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| author | elixir-it |
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| date | Wed, 15 Jul 2020 07:52:10 +0000 |
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CHR start gene ref alt AC 1000g2015aug_all AF_nfe CADD_raw CLNDISDB CLNDN CLNSIG ENSEMBLReg ENSTFBS ENSmiRNA ExAC_nontcga_NFE ExonicFunc.refGene Func.refGene GWAS Kaviar_AF MetaSVM_pred ORegAnno_REGULATORY_R ORegAnno_REGULATORY_TFBS ORegmiRNA Polyphen2_HDIV_pred SIFT_pred dbscSNV_ADA_SCORE dbscSNV_RF_SCORE esp6500siv2_ea nCER95 VINYL_score 10 18429624 CACNB2 C A 11 0.0301518 0.0379 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000025190|Promoter . . 0.0458 . UTR5 . 0.026261 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . 0.0316 Name\x3d99.338950 1 10 18429627 CACNB2 C T 1 0.000199681 . . . . . Name\x3dENSR00000025190|Promoter . . 5.08e-05 . UTR5 . 6.5e-06 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . . Name\x3d99.338950 5 10 18429839 CACNB2 C T 1 0.000399361 0.0022 . . . . Name\x3dENSR00000025190|Promoter . . . . UTR5 . 0.0010758 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . . Name\x3d99.266735 3 10 18430167 CACNB2 G C 9 0.00798722 0.0135 . . . . Name\x3dENSR00000025190|Promoter . . 0.0339 . intronic . 0.0074967 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . 0.0274 Name\x3d99.128546 1 10 18430169 CACNB2 G T 1 0.0091853 . . . . . Name\x3dENSR00000025190|Promoter . . . . intronic . 0.0008085 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . 0.0006 Name\x3d99.128546 3 10 18430220 CACNB2 G A 34 0.107628 0.1136 . . . . Name\x3dENSR00000025190|Promoter . . . . intronic . 0.0210799 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . . Name\x3d97.519956 1 10 18439747 CACNB2 C T 31 0.0970447 0.1121 . . . . . . . . . intronic . 0.0184862 . . . . . . . . . . -2 10 18439784 CACNB2 CTTTTTTT C 7 0.0900559 . . MedGen:C2678477,OMIM:611876 Brugada_syndrome_4 Likely_benign . . . 0.0021 . intronic . 0.0008538 . . . . . . . . . . -2 10 18439900 CACNB2 G A 1 0.000599042 0.0011 6.628 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0015 nonsynonymous_SNV exonic . 0.0007956 D . . . P D . . 0.0009 Name\x3d98.971007 4 10 18439926 CACNB2 T C 27 0.0632987 0.1094 . . . . . . . 0.1308 . intronic . 0.0965641 . . . . . . . . 0.1213 . -2 10 18439993 CACNB2 A C 3 0.00179712 0.0055 . . . . . . . . . intronic . 0.0007697 . . . . . . . . . . 4 10 18691018 CACNB2 G A 116 0.391973 0.5037 . . . . . . . 0.5044 . intronic . 0.0029819 . . . . . . . . 0.5115 Name\x3d98.003371 -1 10 18691019 CACNB2 C A 2 0.00159744 0.0073 . . . . . . . 0.0097 . intronic . 0.0057891 . . . . . . . . 0.0092 Name\x3d98.003371 1 10 18787308 CACNB2 C T 1 0.000199681 . 8.208 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 3.88e-05 D . . . D D . . . Name\x3d99.512539 9 10 18787448 CACNB2 C G 1 0.0792732 0.0030 . . . . . . . 0.0029 . intronic . 0.0226905 . . . . . . . . 0.0030 Name\x3d96.867050 -1 10 18787485 CACNB2 G A 2 0.000798722 . . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d97.017672 1 10 18789724 CACNB2 T G 79 0.229832 0.3182 . MedGen:C2678477,OMIM:611876|MedGen:CN169374 Brugada_syndrome_4|not_specified Benign . . . 0.3254 . intronic . 0.275165 . . . . . . . . 0.3157 Name\x3d97.425850 -1 10 18789924 CACNB2 C G 1 0.000998403 0.0006 . . . . . . . 0.0003 . intronic . 0.0005175 . . . . . . . . 0.0007 . 0 10 18795351 CACNB2 G T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d96.797939 3 10 18795447 CACNB2 G C 2 0.00179712 0.0009 2.683 MedGen:C2678477,OMIM:611876|MedGen:C3150852,OMIM:613601|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome_4|Early_repolarization_associated_with_ventricular_fibrillation|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0013 nonsynonymous_SNV exonic . 0.0009508 T . . . B D . . 0.0012 Name\x3d99.033629 1 10 18795555 CACNB2 G A 1 0.000199681 0.0036 . . . . . . . . . intronic . 0.0005369 . . . . . . . . . Name\x3d96.470435 1 10 18795596 CACNB2 G A 82 0.503395 0.3746 . . . . . . . . . intronic . 0.0555491 . . . . . . . . . Name\x3d95.458555 1 10 18803338 CACNB2 A G 4 0.014377 0.0777 . . . . . . . 0.0725 . intronic . 0.0491391 . . . . . . . . 0.0767 Name\x3d99.402466 -1 10 18804094 CACNB2 T C 86 0.409545 0.3633 . . . . . . . . . intronic . 0.0725023 . . . . . . . . . Name\x3d99.013621 1 10 18807246 CACNB2 G T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d98.772116 3 10 18816565 CACNB2 G A 1 0.00359425 0.0113 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|Brugada_syndrome_4|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0110 synonymous_SNV exonic . 0.0074773 . . . . . . . . 0.0124 Name\x3d99.182161 -1 10 18816633 CACNB2 C T 27 0.239417 0.1794 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign/Likely_benign . . . 0.1575 . intronic . 0.206647 . . . . . . . 0.002 0.1603 Name\x3d98.079948 -1 10 18822993 CACNB2 C T 1 0.000199681 0.0002 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance . . . 0.0003 . intronic . 0.0001552 . . . . . . . . 0.0005 Name\x3d98.771182 1 10 18825201 CACNB2 T G 4 0.0103834 . . . . . . . . . . intronic . 0.0050715 . . . . . . . . . . -2 10 18825202 CACNB2 TGG GGG,T 4 0.607827 0.2460 . . . . . . . . . intronic . 0.0389196 . . . . . . . . . . -2 10 18825203 CACNB2 G T 12 0.0642971 0.0119 . . . . . . . . . intronic . 0.0488704 . . . . . . . . . . -2 10 18825204 CACNB2 G T 12 0.0642971 . . . . . . . . . . intronic . 0.0489089 . . . . . . . . . . -2 10 18827336 CACNB2 T C 1 0.000199681 6.492e-05 . . . . . . . 1.872e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 10 18828191 CACNB2 C T 2 0.00279553 0.0083 2.546 MedGen:C2678477,OMIM:611876|MedGen:CN230736 Brugada_syndrome_4|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0058 synonymous_SNV exonic . 0.0047994 . . . . . . . . 0.0083 Name\x3d98.895652 1 10 18828230 CACNB2 T C 2 0.000998403 0.0016 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0015 synonymous_SNV exonic . 0.0010737 . . . . . . . . 0.0024 Name\x3d99.006497 1 10 18828371 CACNB2 C T 26 0.23722 0.1791 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1573 synonymous_SNV exonic . 0.207184 . . . . . . . . 0.1615 Name\x3d98.755494 -1 10 18828455 CACNB2 C T 1 0.00778754 0.0001 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0001 synonymous_SNV exonic . 0.002445 . . . . . . . . 0.0002 Name\x3d99.214967 1 10 18828486 CACNB2 C G 1 0.00439297 0.0162 4.555 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0144 nonsynonymous_SNV exonic . 0.0099028 D . . . B D . . 0.0170 Name\x3d99.178975 2 10 18828561 CACNB2 A G 1 0.000199681 . 3.389 MedGen:CN169374 not_specified Uncertain_significance . . . 1.848e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B D . . . Name\x3d99.355753 6 10 18828635 CACNB2 T G 53 0.0970447 0.1784 2.791 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1832 nonsynonymous_SNV exonic . 0.136467 T . . . B D . . 0.1729 Name\x3d99.331345 -1 10 18828645 CACNB2 C T 1 0.000998403 . 6.542 MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_4|not_specified|Cardiovascular_phenotype Likely_benign . . . 3.749e-05 nonsynonymous_SNV exonic . 0.0002911 D . . . P D . . . Name\x3d99.267915 4 10 18828663 CACNB2 G T 173 0.774361 0.7944 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374 Brugada_syndrome|Brugada_syndrome_4|not_specified Benign/Likely_benign . . . 0.7884 . UTR3 . 0.706356 . . . . . . . . . Name\x3d96.448897 0 10 18828670 CACNB2 T C 47 0.0756789 0.1966 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Likely_benign . . . 0.2703 . UTR3 . 0.0003816 . . . . . . . . . Name\x3d96.448897 -1 10 21074724 NEBL T C 12 0.0666933 0.0777 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0738 synonymous_SNV exonic . 0.076836 . . . . . . . . 0.0762 Name\x3d98.000609 1 10 21076080 NEBL A C 1 0.000199681 . . . . . . . . 6.936e-05 . intronic . 4.53e-05 . . . . . . . . . . 4 10 21076100 NEBL C A 12 0.221845 0.0173 . . . . . . . 0.0314 . intronic . 0.0824698 . . . . . . . . 0.0238 . 0 10 21076285 NEBL C G 22 0.0251597 0.0662 . . . . . . . 0.0774 . intronic . 0.0441197 . . . . . . . . 0.0705 . 0 10 21076307 NEBL C T 64 0.299521 0.3433 . . . . . . . . . intronic . 0.0658012 . . . . . . . . . . 0 10 21097556 NEBL G A 1 0.000199681 6.48e-05 14.964 MedGen:CN169374 not_specified Uncertain_significance . . . 1.842e-05 stopgain exonic . 2.59e-05 . . . . . . . . 0.0001 Name\x3d97.303046 13 10 21098878 NEBL G A 17 0.0834665 0.0015 . . . . . . . 0.0167 . intronic . 0.0027425 . . . . . . . . . . 0 10 21098879 NEBL G A 43 0.226637 . . . . . . . . . . intronic . 0.0073867 . . . . . . . . . . 0 10 21101734 NEBL T C 2 0.00139776 0.0022 -0.155 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Benign/Likely_benign . . . 0.0015 nonsynonymous_SNV exonic . 0.001119 T . . . B T . . 0.0019 Name\x3d97.894752 4.5 10 21104492 NEBL C T 2 0.000798722 0.0005 . . . . . . . . . intronic . 0.000207 . . . . . . . . . . 2 10 21104694 NEBL A T 90 0.558906 0.3636 . . . . . . . 0.3820 . intronic . 0.432724 . . . . . . . . 0.3794 . 0 10 21108377 NEBL C T 57 0.183706 0.3082 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2985 synonymous_SNV exonic . 0.237397 . . . . . . . . 0.2952 Name\x3d96.290753 1 10 21112068 NEBL G T 1 0.00159744 0.0055 . . . . . . . . . intronic . 0.0006727 . . . . . . . . . . 2 10 21112111 NEBL A T 55 0.302117 0.2739 . . . . . . . 0.3138 . intronic . 0.0008085 . . . . . . . . 0.2187 . 0 10 21112137 NEBL A T 11 0.124601 0.0183 2.904 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0235 nonsynonymous_SNV exonic . 0.0565517 T . . . B T 0.6236 . 0.0224 . 2 10 21112258 NEBL A C 1 0.00459265 6.483e-05 . . . . . . . 4.066e-05 . intronic . 0.0007697 . . . . . . . . . . 2 10 21115332 NEBL T C 91 0.558307 0.3660 . . . . . . . 0.3832 . intronic . 0.437006 . . . . . . . . 0.3815 . 0 10 21115347 NEBL A G 4 0.00559105 0.0095 . . . . . . . 0.0130 . intronic . 0.0096635 . . . . . . . . 0.0131 . 0 10 21115491 NEBL G T 1 0.000199681 0.0001 . . . . . . . 1.86e-05 . intronic . 4.53e-05 . . . . . . . . . . 4 10 21117573 NEBL T A 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 10 21120116 NEBL A G 74 0.46905 0.3386 . MedGen:CN169374 not_specified Benign . . . 0.3456 . intronic . 0.379342 . . Name\x3dOREG1485482|N/A|EGR1|PAZAR . . . . . 0.3458 . 1 10 21129588 NEBL T C 19 0.0449281 0.0742 . . . . . . . . . intronic . 0.0135833 . . . . . . . . . . 0 10 21134282 NEBL C G 19 0.0385383 0.0742 5.403 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . Name\x3dMIMAT0000273|hsa-miR-216a-5p|Experimental 0.0824 nonsynonymous_SNV exonic . 0.0651544 T . . . P D . . 0.0828 Name\x3d96.362963 5 10 21139389 NEBL T C 19 0.038738 0.0741 1.032 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0826 nonsynonymous_SNV exonic . 0.0653226 T . . . B T . . 0.0834 Name\x3d97.175997 2.5 10 21141398 NEBL G A 5 0.0119808 0.0428 . . . . . . . . . intronic . 0.0073414 . . . . . . . . . . 0 10 21141429 NEBL G A 1 0.000199681 0.0007 . . . . . . . 0.0012 . intronic . 0.0007374 . . . . . . . . 0.0014 . 2 10 21141440 NEBL AG A 53 0.252796 0.2585 . . . . . . . 0.2538 . intronic . 0.210573 . . . . . . . . 0.2555 . 0 10 21141469 NEBL T C 214 0.952476 0.9997 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.9994 . intronic . 0.927161 . . . . . . 0.0008 0.036 0.9994 . 0 10 21147144 NEBL G A 2 0.0543131 0.0063 . . . . . . . 0.0077 . intronic . 0.0286413 . . Name\x3dOREG1247684|N/A|SMARCA4|PAZAR . . . . . 0.0052 . 1 10 21148584 NEBL C A 141 0.502995 0.6575 . . . . . . . . . intronic . 0.0001153 . . Name\x3dOREG1247684|N/A|SMARCA4|PAZAR . . . . . . . 1 10 21157673 NEBL C T 1 0.00139776 0.0022 2.566 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN517202 Primary_dilated_cardiomyopathy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0031 nonsynonymous_SNV exonic . 0.0020828 T . . . B T . . 0.0022 Name\x3d97.084069 4.5 10 21157763 NEBL CAA CA,C 1 0.102835 0.0097 . . . . . . . . . intronic . 0.0003458 . . . . . . . . . . 0 10 21157774 NEBL AAAAT A 1 0.0517173 0.0014 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 10 21158728 NEBL C T 1 0.000399361 0.0002 1.228 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004 Primary_dilated_cardiomyopathy Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0001358 T . . . B T . . 0.0001 Name\x3d95.313243 6.5 10 21176945 NEBL G A 196 0.886981 0.9243 . . . . Name\x3dENSR00000942099|Enhancer . . . . intronic . 0.0001153 . . . . . . . . . . 1 10 21177128 NEBL G C 1 0.000599042 0.0026 9.147 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374 Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000942099|Enhancer . . 0.0020 stopgain exonic . 0.0013066 . . . . . . . . 0.0017 Name\x3d97.406572 12 10 21177143 NEBL GA GAA,G 1 0.0111821 0.0008 . . . . . . . 0.0008 . intronic . 0.000207 . . . . . . . . . . 0 10 21177156 NEBL GA G 141 0.540535 0.6548 . . . . . . . 0.6557 . intronic . 0.0027361 . . . . . . . . 0.6444 . 0 10 21178948 NEBL A T 1 0.0181709 0.0002 . . . . . . . . . intronic . 0.0051099 . . . . . . . . . . 0 10 21185821 NEBL A C 214 0.923522 0.9957 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 10 21185931 NEBL A G 1 0.00119808 0.0015 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Benign . . . 0.0014 synonymous_SNV exonic . 0.0017788 . . . . . . . . 0.0008 Name\x3d97.387050 3 10 21185974 NEBL G A 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 10 21250698 NEBL T C 1 0.000199681 . 2.461 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . Name\x3d98.241792 6.5 10 21309211 NEBL C T 5 0.00539137 0.0163 . . . . . . . . . intronic . 0.002542 . . . . . . . . . . 0 10 21461232 NEBL G A 30 0.230232 0.1573 . . . . . . . . . intronic . 0.0331173 . . Name\x3dOREG1629430|N/A|FOXA1|PAZAR,OREG1570644|N/A|FOXA1|PAZAR . . . . . . . 1 10 21461237 NEBL T A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . Name\x3dOREG1629430|N/A|FOXA1|PAZAR,OREG1570644|N/A|FOXA1|PAZAR . . . . . . . 5 10 21461410 NEBL G GA 53 0.353634 0.2050 . MedGen:CN169374 not_specified not_provided Name\x3dENSR00000025357|Promoter . . 0.2169 . intronic . 0.0003687 . . Name\x3dOREG1629430|N/A|FOXA1|PAZAR,OREG1570644|N/A|FOXA1|PAZAR . . . . . . Name\x3d97.993913 3 10 21462769 NEBL G A 3 0.0163738 0.0036 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000025357|Promoter . . 0.0043 . UTR5 . 0.0074902 . . Name\x3dOREG1485481|N/A|EGR1|PAZAR . . . . . 0.0052 Name\x3d96.265883 3 10 21462878 NEBL G A 3 0.0163738 0.0035 . . . . Name\x3dENSR00000025357|Promoter . . . . UTR5 . 0.0009961 . . Name\x3dOREG1485481|N/A|EGR1|PAZAR . . . . . . . 2 10 67726514 CTNNA3 A C 56 0.352636 0.3131 . MedGen:CN169374 not_specified Benign . . . 0.3021 . intronic . 0.334142 . . . . . . 0.0057 0.262 0.3110 . -2 10 67748412 CTNNA3 G A 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d95.768403 3 10 68040240 CTNNA3 G T 4 0.0690895 0.0164 . MedGen:C3810138,OMIM:615616|MedGen:CN169374 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13|not_specified Benign . . . 0.0210 synonymous_SNV exonic . 0.0360862 . . . . . . . . 0.0205 Name\x3d99.558760 -1 10 68040325 CTNNA3 C T 80 0.485024 0.3875 0.202 . . . . . . 0.3745 nonsynonymous_SNV exonic . 0.404141 T . . . B T . . 0.3621 Name\x3d99.280767 0.5 10 68139038 CTNNA3 C T 1 0.000199681 0.0001 3.955 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Uncertain_significance Name\x3dENSR00000945668|Enhancer . . 0.0002 nonsynonymous_SNV exonic . 0.00011 T . . . D T . . 0.0002 Name\x3d99.468039 4 10 68139039 CTNNA3 G A 1 0.00499201 0.0135 4.125 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign Name\x3dENSR00000945668|Enhancer . . 0.0165 nonsynonymous_SNV exonic . 0.0114552 T . . . D T . . 0.0151 Name\x3d99.468039 0 10 68139142 CTNNA3 G A 39 0.0940495 0.1746 . . . . Name\x3dENSR00000945668|Enhancer . . 0.1771 . intronic . 0.15254 . . . . . . . . 0.1845 . -1 10 68381592 CTNNA3 T C 3 0.00239617 0.0038 . . . . . . . 0.0042 . intronic . 0.0026002 . . . . . . . . 0.0042 . 4 10 68381615 CTNNA3 A T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 10 68535233 CTNNA3 A G 1 0.000199681 . 2.979 . . . . . . 1.843e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d99.731773 6 10 68979342 CTNNA3 A T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 2 10 68979343 CTNNA3 C G 14 0.187899 0.1162 . . . . . . . 0.1136 . intronic . 0.12496 . . . . . . . . 0.1072 . -2 10 68979636 CTNNA3 G A 1 0.000798722 0.0023 . MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign . . . 0.0024 . intronic . 0.0015071 . . . . . . . . 0.0020 Name\x3d96.575495 1 10 69281585 CTNNA3 A C 18 0.187101 0.1358 . . . . . . . 0.1131 . intronic . 0.156149 . . . . . . . . 0.1113 Name\x3d98.330022 -1 10 69281701 CTNNA3 A T 7 0.0113818 0.0262 2.461 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign . . . 0.0257 nonsynonymous_SNV exonic . 0.0220114 T . . . D T . . 0.0253 Name\x3d99.260389 -1 10 69281732 CTNNA3 A G 15 0.0593051 0.0525 . MedGen:CN169374 not_specified Benign . . . 0.0530 . intronic . 0.000304 . . . . . . . . 0.0592 Name\x3d98.891749 -1 10 69299192 CTNNA3 C T 5 0.0179712 0.0640 . . . . . . . . . intronic . 0.0082017 . . . . . . . . . . -2 10 69299372 CTNNA3 T G 4 0.0147764 0.0170 . MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign . . . 0.0178 synonymous_SNV exonic . 0.0173154 . . . . . . . . 0.0226 Name\x3d99.183406 -1 10 69299446 CTNNA3 T A 24 0.195487 0.0957 . MedGen:CN169374 not_specified Benign . . . 0.1056 . intronic . 0.128957 . . . . . . . . 0.1024 Name\x3d96.936138 -1 10 69366602 CTNNA3 T C 58 0.529952 0.2882 . MedGen:CN169374 not_specified Benign . . . 0.2907 . intronic . 0.367052 . . . . . . . . 0.2893 Name\x3d98.839083 -1 10 69407239 CTNNA3 G A 1 0.000399361 0.0018 . MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign . . . 0.0029 synonymous_SNV exonic . 0.0018434 . . . . . . . . 0.0035 Name\x3d99.248734 1 10 69407254 CTNNA3 T A 1 0.000199681 6.482e-05 . . . . . . . 0.0002 synonymous_SNV exonic . 0.0001552 . . . . . . . . 0.0002 Name\x3d99.482270 3 10 69882040 MYPN A G 1 0.000199681 0.0002 5.735 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype Uncertain_significance . . . 0.0003 nonsynonymous_SNV exonic . 0.0001488 D . . . D D . . 0.0002 Name\x3d99.776413 11 10 69902919 MYPN T C 4 0.114217 0.0469 . . . . Name\x3dENSR00000945768|Enhancer . . 0.0458 . intronic . 0.0002652 . . . . . . . . 0.0477 Name\x3d95.540898 2 10 69905300 MYPN G A 28 0.295927 0.0749 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign . . . 0.0777 . intronic . 0.150645 . . . . . . . . 0.0807 Name\x3d98.096456 1 10 69905411 MYPN T C 1 0.000599042 0.0003 . . . . . . . . . intronic . 3.23e-05 . . . . . . . . . . 2 10 69908063 MYPN A T 6 0.0577077 0.0168 . . . . . . . 0.0148 . intronic . 0.0247862 . . . . . . . . 0.0126 . 0 10 69908157 MYPN T C 6 0.120607 0.0176 0.535 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0149 nonsynonymous_SNV exonic . 0.043861 T . . . B T . . 0.0147 Name\x3d99.271525 2.5 10 69908241 MYPN G A 22 0.121605 0.0560 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign . . . 0.0616 . intronic . 0.0893714 . . Name\x3dOREG1522046|N/A|ESR1|PAZAR . . . . . 0.0643 . 1 10 69909756 MYPN T C 4 0.0946486 0.0327 . . . . . . . 0.0313 . intronic . 0.0528518 . . . . . . . . 0.0344 Name\x3d95.779753 1 10 69909802 MYPN G A 14 0.0842652 0.0792 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0888 synonymous_SNV exonic . 0.0840093 . . . . . . . . 0.0826 Name\x3d99.405156 1 10 69909844 MYPN C A 1 0.00199681 0.0006 . MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0009 synonymous_SNV exonic . 0.0008085 . . . . . . . . 0.0008 Name\x3d99.385616 3 10 69909899 MYPN G A 15 0.14996 0.0799 . . . . . . . 0.0902 . intronic . 0.100943 . . . . . . . . 0.0826 Name\x3d98.669119 1 10 69918442 MYPN CACTT C 4 0.0379393 0.0167 . . . . . . . . . intronic . 0.003381 . . . . . . . . . Name\x3d96.509998 1 10 69925596 MYPN G C 1 0.00199681 0.0115 . MedGen:C3714995,OMIM:615248 Dilated_cardiomyopathy_1KK Benign . . . 0.0121 . intronic . 0.0074773 . . . . . . . . 0.0095 Name\x3d97.725426 1 10 69926097 MYPN T C 140 0.482628 0.7086 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.6848 synonymous_SNV exonic . 0.621331 . . . . . . . . 0.6960 Name\x3d99.444903 1 10 69926319 MYPN C A 49 0.116613 0.1619 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.1672 synonymous_SNV exonic . 0.155037 . . . . . . . . 0.1735 Name\x3d98.867298 1 10 69926325 MYPN C T 53 0.157748 0.1787 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.1813 synonymous_SNV exonic . 0.176531 . . . . . . . . 0.1866 Name\x3d99.063706 1 10 69926334 MYPN C G 87 0.316494 0.5293 0.756 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.5025 nonsynonymous_SNV exonic . 0.435596 T . . . B T . . 0.5095 Name\x3d99.204429 2.5 10 69933921 MYPN G A 85 0.335863 0.4997 0.657 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.4796 nonsynonymous_SNV exonic . 0.431191 T . . . B T . . 0.48 Name\x3d99.388223 2.5 10 69933969 MYPN G A 85 0.32508 0.4990 1.882 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.4790 nonsynonymous_SNV exonic . 0.422659 T . . . B T . . 0.4798 Name\x3d99.151452 2.5 10 69934012 MYPN C A 4 0.0429313 0.0163 . MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0140 synonymous_SNV exonic . 0.0226258 . . . . . . . . 0.0123 Name\x3d99.701038 1 10 69934258 MYPN C G 108 0.471446 0.5668 2.029 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.5518 nonsynonymous_SNV exonic . 0.512788 T . . . P D . . 0.5509 Name\x3d99.421069 1 10 69934259 MYPN G A 4 0.0103834 0.0247 2.875 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0280 nonsynonymous_SNV exonic . 0.0191589 T . . . P D . . 0.035 Name\x3d99.421069 1 10 69934467 MYPN A G 164 0.817093 0.8178 . . . . . . . . . intronic . 0.157818 . . . . . . . . . . 0 10 69935059 MYPN A G 139 0.547524 0.7210 . . . . . . . 0.7117 . intronic . 0.641706 . . . . . . . . 0.7103 Name\x3d98.698597 1 10 69935062 MYPN T G 1 0.00519169 . . . . . . . . 0.0015 . intronic . 0.0001682 . . . . . . . . . Name\x3d99.128106 3 10 69935235 MYPN T C 214 0.982428 0.9997 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign . . . 0.9996 . intronic . 0.951864 . . . . . . . . 0.9990 Name\x3d97.211278 1 10 69948844 MYPN T C 214 0.984625 0.9998 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.9997 synonymous_SNV exonic . 0.948526 . . . . . . . . 0.9994 Name\x3d99.672016 1 10 69948892 MYPN G C 2 0.0141773 0.0019 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign . . . 0.0025 . intronic . 0.0055497 . . . . . . . . 0.0019 Name\x3d97.871692 1 10 69954090 MYPN A G 4 0.00678914 0.0230 . . . . . . . 0.0208 . intronic . 0.0162546 . . . . . . . . 0.0199 . 0 10 69954290 MYPN G A 85 0.35603 0.4992 . . . . . . . 0.4839 . intronic . 0.431812 . . . . . . . . 0.4774 Name\x3d98.979848 1 10 69954301 MYPN C T 42 0.117812 0.1527 . . . . . . . 0.1608 . intronic . 0.144739 . . . . . . . . 0.1633 Name\x3d99.137292 3 10 69955140 MYPN T A 131 0.48143 0.6754 . . . . . . . . . intronic . 0.0001921 . . . . . . . . . . 0 10 69957279 MYPN T G 1 0.000599042 6.579e-05 . . . . . . . 0.0001 . intronic . 9.06e-05 . . Name\x3dOREG1412240|N/A|E2F1|PAZAR . . . . . 0.0002 Name\x3d96.261007 4 10 69959097 MYPN G T 145 0.538139 0.7553 . . . . . . . 0.7452 . intronic . 0.663543 . . . . . . . . 0.7473 Name\x3d99.134722 1 10 69959174 MYPN C T 2 0.00259585 0.0021 5.849 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C3714995,OMIM:615248|MedGen:C3714998|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1KK|Familial_hypertrophic_cardiomyopathy_22|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0033 nonsynonymous_SNV exonic . 0.002846 T . . . D T . . 0.0024 Name\x3d99.608949 6 10 69959242 MYPN C A 85 0.340256 0.5001 6.536 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.4803 nonsynonymous_SNV exonic . 0.432582 T . . . D D . . 0.4786 Name\x3d99.605475 4 10 69959281 MYPN G C 1 0.000199681 . 6.922 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.635210 11 10 69959345 MYPN GCTGGGA G 85 0.358227 0.4937 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C3714995,OMIM:615248|MedGen:CN169374 Cardiomyopathy|Dilated_cardiomyopathy_1KK|not_specified Benign . . . 0.4697 . intronic . 0.012613 . . . . . . . . 0.4553 Name\x3d98.130942,98.994558 1 10 69959397 MYPN G A 85 0.358227 0.5003 . . . . . . . . . intronic . 0.0865966 . . . . . . . . . Name\x3d96.735011 1 10 69961805 MYPN G A 3 0.00678914 0.0138 . . . . . . . . . intronic . 0.0127939 . . Name\x3dOREG0549335|N/A|CEBPB|JASPAR . . . . . . . 1 10 69966602 MYPN G A 2 0.000399361 0.0001 . . . . . . . 3.681e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d99.610949 5 10 69969986 MYPN C T 77 0.285743 0.3130 . . . . . . . . . intronic . 0.0597146 . . . . . . . . . . 0 10 69969987 MYPN G A 2 0.00898562 0.0019 . . . . . . . . . intronic . 0.0006015 . . . . . . . . . . 2 10 75834538 VCL C T 1 0.000599042 0.0014 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . Name\x3dMIMAT0004515|hsa-miR-29b-2-5p|Experimental 0.0012 synonymous_SNV exonic . 0.0007891 . . . . . . . . 0.0010 Name\x3d99.114408 4 10 75842152 VCL G A 71 0.511182 0.3762 . . . . . . . . . intronic . 0.080704 . . . . . . . . . Name\x3d98.537528 1 10 75843100 VCL T A 108 0.780751 0.5464 . MedGen:CN169374 not_specified Benign . . . 0.5349 . intronic . 0.628439 . . . . . . . . 0.5227 Name\x3d99.094034 1 10 75849921 VCL T C 1 0.00199681 0.0047 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype Benign . . . 0.0059 synonymous_SNV exonic . 0.0044825 . . . . . . . . 0.0056 Name\x3d99.392980 3 10 75849991 VCL C A 1 0.0249601 0.0034 . . . . . . . 0.0045 . intronic . 0.0093078 . . . . . . . . 0.0035 . 0 10 75855541 VCL C T 1 0.00319489 0.0023 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0029 synonymous_SNV exonic . 0.0044178 . . . . . . . . 0.0015 Name\x3d99.561477 3 10 75863750 VCL C T 167 0.500998 0.7184 . . . . . . . . . intronic . 0.126143 . . . . . . . . . Name\x3d98.852024 1 10 75865065 VCL G A 132 0.324681 0.5805 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . Name\x3dMIMAT0004559|hsa-miR-181c-3p|Experimental,MIMAT0000761|hsa-miR-324-5p|Experimental 0.5837 synonymous_SNV exonic . 0.479573 . . . . . . . . 0.5895 Name\x3d99.805936 2 10 75865095 VCL A G 7 0.0365415 . . MedGen:CN230736 Cardiovascular_phenotype Likely_benign . . . . synonymous_SNV exonic . 0.0011837 . . . . . . . . . Name\x3d99.809405 1 10 75865159 VCL C T 16 0.0157748 0.0545 . . . . . . . 0.0566 . intronic . 0.0391974 . . . . . . . . 0.0610 Name\x3d98.066364 1 10 75866929 VCL C A 133 0.400958 0.5858 . . . . . . . . . intronic . 0.0208237 . . Name\x3dOREG1182812|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.346867 3 10 75871735 VCL C G 170 0.623003 0.7456 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.7401 synonymous_SNV exonic . 0.656072 . . . . . . . . 0.7521 Name\x3d99.730915 1 10 75873892 VCL C T 133 0.400958 0.5865 . . . . Name\x3dENSR00000946465|Enhancer . . 0.5897 . intronic . 0.495847 . . . . . . . . 0.5953 Name\x3d98.535256 3 10 75873920 VCL C G 1 0.00279553 0.0108 . . . . Name\x3dENSR00000946465|Enhancer . . 0.0107 . intronic . 0.0073479 . . . . . . . . 0.0124 Name\x3d99.493086 2 10 75874190 VCL T C 2 0.0125799 0.0041 . . . . . . . 0.0036 . intronic . 0.0008991 . . . . . . . . . . 0 10 75874192 VCL T C 126 0.382788 0.5380 . . . . . . . 0.4783 . intronic . 0.0001294 . . . . . . . . . Name\x3d96.454468 1 10 75874667 VCL A T 1 0.000998403 0.0043 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN239310 Dilated_cardiomyopathy_1W|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0057 . intronic . 0.0022574 . . . . . . . . 0.0038 Name\x3d97.871381 3 10 88439094 LDB3 G A 1 0.000798722 0.0038 . . . . . . . 0.0023 . intronic . 0.0017141 . . Name\x3dOREG1768642|N/A|MITF|PAZAR,OREG1861631|N/A|SPI1|PAZAR . . . . . 0.0028 Name\x3d99.456162 4 10 88439175 LDB3 G C 1 0.000199681 6.485e-05 5.907 . . . . . . 3.68e-05 nonsynonymous_SNV exonic . 3.23e-05 T . Name\x3dOREG1861631|N/A|SPI1|PAZAR,OREG1768642|N/A|MITF|PAZAR . D D . . . Name\x3d99.816619 9 10 88439866 LDB3 G A 1 0.00439297 6.487e-05 . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 5.522e-05 synonymous_SNV exonic . 0.0024644 . . . . . . . . 0.0002 Name\x3d99.713696 3 10 88440018 LDB3 G A 9 0.0726837 0.0365 . . . . . . . . . intronic . 0.0571692 . . . . . . . . . . 0 10 88441223 LDB3 G A 2 0.00159744 0.0067 1.436 MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0073 nonsynonymous_SNV exonic . 0.0046248 T . Name\x3dOREG1176609|N/A|TFAP2C|PAZAR . B T . . 0.0070 Name\x3d99.840456 5.5 10 88441269 LDB3 C T 1 0.000199681 . -1.218 MedGen:CN169374 not_specified Likely_benign . . . 7.588e-05 nonsynonymous_SNV exonic . 3.88e-05 T . Name\x3dOREG1176609|N/A|TFAP2C|PAZAR . B T . . 0.0001 Name\x3d99.519844 7.5 10 88441437 LDB3 C T 2 0.000599042 0.0005 1.083 MedGen:C1832244,OMIM:601493|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN229629|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1C|Myofibrillar_myopathy,_ZASP-related|not_specified|Familial_hypertrophic_cardiomyopathy_24|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0007 nonsynonymous_SNV exonic . 0.0005886 T . . . B T . . 0.0002 Name\x3d99.723768 4.5 10 88441527 LDB3 G A 1 0.000199681 . 4.708 MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374 Myofibrillar_myopathy,_ZASP-related|not_specified Uncertain_significance . . . 7.583e-05 nonsynonymous_SNV exonic . 4.53e-05 T . . . D T . . . Name\x3d99.898982 5 10 88445385 LDB3 G C 150 0.624201 0.7450 . MedGen:CN169374 not_specified Benign . . . 0.7435 . intronic . 0.0040297 . . . . . . . . 0.7528 Name\x3d98.723784 1 10 88446811 LDB3 G A 9 0.0613019 0.0408 . Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446 Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign/Likely_benign . . . 0.0357 . intronic . 0.0407369 . . . . . . . . 0.0396 Name\x3d99.516757 1 10 88446830 LDB3 G A 2 0.00778754 0.0031 3.591 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 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0042 nonsynonymous_SNV exonic . 0.0042173 T . . . B D . . 0.0040 Name\x3d99.869135 3 10 88446985 LDB3 T C 9 0.0567093 0.0410 . Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign/Likely_benign . . . 0.0355 synonymous_SNV exonic . 0.0406657 . . . . . . . . 0.0407 Name\x3d99.899103 2 10 88447076 LDB3 A T 2 0.00479233 0.0025 . . . . . . . 0.0022 . intronic . 0.0021863 . . . . . . . . 0.0035 Name\x3d98.306648 3 10 88447082 LDB3 A C 9 0.0439297 0.0407 . . . . . . . . . intronic . 0.0073026 . . . . . . . . . Name\x3d98.534907 2 10 88451649 LDB3 A G 2 0.0061901 0.0025 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0022 . intronic . 0.0026002 . . . . . . 0.0001 . 0.0038 Name\x3d99.150170 3 10 88451715 LDB3 A G 1 0.0171725 0.0012 3.610 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0011 nonsynonymous_SNV exonic . 0.0063195 T . . . D T . . 0.0010 Name\x3d99.835354 1 10 88451869 LDB3 G C 34 0.241214 0.1274 . MedGen:CN169374 not_specified Benign . . . 0.1311 . intronic . 0.174124 . . . . . . . . 0.1154 Name\x3d98.097764 1 10 88452190 LDB3 G A 1 0.000998403 0.0032 . . . . . . . . . intronic . 0.0004334 . . . . . . . . . . 2 10 88452258 LDB3 G A 6 0.00259585 0.0027 . . . . . . . 0.0061 . intronic . 0.0036934 . . . . . . . . 0.0038 Name\x3d98.713266 11 10 88458996 LDB3 TTCTCTCTC CTCTCTCTC,TTCTCTC,TTCTC,TTC,T 6 0.0501198 0.0006 . . . . . . . 0.0284 . intronic . 0.000194 . . . . . . . . . Name\x3d99.611455,99.696200 1 10 88459000 LDB3 C G 2 0.0301518 . . . . . . . . . . intronic . 0.0013907 . . . . . . . . . Name\x3d99.696200 1 10 88459002 LDB3 C T 2 0.0301518 . . . . . . . . 0.0002 . intronic . 0.0013777 . . . . . . . . . Name\x3d99.611455 1 10 88459050 LDB3 G A 1 0.000798722 0.0005 . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 synonymous_SNV exonic . 0.0008279 . . Name\x3dOREG1289486|N/A|CEBPA|PAZAR . . . . . 0.0001 Name\x3d99.910619 4 10 88459055 LDB3 G A 1 0.000199681 . 2.444 . . . . . . 3.68e-05 nonsynonymous_SNV exonic . 1.94e-05 T . Name\x3dOREG1289486|N/A|CEBPA|PAZAR . B T . . . Name\x3d99.933432 7.5 10 88459066 LDB3 C T 1 0.000199681 6.494e-05 2.712 MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN517202 Myofibrillar_myopathy,_ZASP-related|not_provided Uncertain_significance . . . 1.84e-05 nonsynonymous_SNV exonic . 2.59e-05 T . Name\x3dOREG1289486|N/A|CEBPA|PAZAR . D D . . 0.0001 Name\x3d99.888298 9 10 88466465 LDB3 C T 12 0.0201677 0.0485 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0498 synonymous_SNV exonic . 0.0339388 . . . . . . . . 0.0369 Name\x3d99.132953 1 10 88469831 LDB3 G A 2 0.00698882 0.0127 . . . . . . . 0.0079 . intronic . 0.0064747 . . . . . . . . 0.0072 Name\x3d99.207180 1 10 88469837 LDB3 C G 6 0.0385383 0.0399 . MedGen:CN169374 not_specified Likely_benign . . . 0.0355 . intronic . 0.0324575 . . . . . . . . 0.0357 Name\x3d99.207180 1 10 88476105 LDB3 C G 1 0.000199681 0.0001 4.244 MedGen:C0340427,Orphanet:ORPHA217607|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Familial_dilated_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0001035 T . . . D T . . 0.0001 Name\x3d99.752876 5 10 88477932 LDB3 CAT C 1 0.00798722 . . . . . . . . 0.0004 . intronic . 0.0024321 . . . . . . . . 0.0004 . 2 10 88485858 LDB3 C T 2 0.00439297 0.0017 . . . . . . . 0.0018 . intronic . 0.002044 . . . . . . . . 0.0027 . 2 10 92672564 ANKRD1 T C 92 0.354233 0.4788 . MedGen:CN239310 Dilated_Cardiomyopathy,_Dominant Likely_benign . . . . . UTR3 . 0.0868359 . . . . . . . . . . 0 10 92675649 ANKRD1 GA G 39 0.178714 0.1706 . MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.1653 . intronic . 0.0044243 . . . . . . . . 0.1575 . 0 10 92675857 ANKRD1 G A 16 0.0621006 0.0270 . . . . . . . . . intronic . 0.005194 . . . . . . . . . . 0 10 92678728 ANKRD1 G A 1 0.000798722 0.0003 3.758 MedGen:CN119551|MedGen:CN169374|MedGen:CN230736 ANKRD1-related_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype Uncertain_significance Name\x3dENSR00000411683|Promoter . . 0.0002 nonsynonymous_SNV exonic . 0.0001488 T . . . P T 0.9791 0.746 0.0001 Name\x3d97.883274 6.5 10 92678744 ANKRD1 A T 170 0.810104 0.0083 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000411683|Promoter . . 0.0111 . intronic . 0.0436799 . . . . . . . . . . 1 10 92678747 ANKRD1 A G 92 0.357827 . . . . . Name\x3dENSR00000411683|Promoter . . . . intronic . 0.0116881 . . . . . . . . . . 1 10 92678748 ANKRD1 A T 169 0.784545 0.0602 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign Name\x3dENSR00000411683|Promoter . . 0.0446 . intronic . 0.0038874 . . . . . . . . . . 1 10 92678761 ANKRD1 A C 4 0.00419329 . . . . . Name\x3dENSR00000411683|Promoter . . . . intronic . 0.0001358 . . . . . . . . . . 7 10 92678762 ANKRD1 T A 4 0.00419329 . . . . . Name\x3dENSR00000411683|Promoter . . . . intronic . 0.0002587 . . . . . . . . . . 7 10 92678764 ANKRD1 T A 4 0.00419329 . . . . . Name\x3dENSR00000411683|Promoter . . . . intronic . 0.0001358 . . . . . . . . . . 7 10 92678765 ANKRD1 A G 112 0.441094 0.5533 . . . . Name\x3dENSR00000411683|Promoter . . 0.6760 . intronic . 0.428274 . . . . . . . . . . 1 10 92678789 ANKRD1 T C 5 0.00319489 0.0085 . . . . Name\x3dENSR00000411683|Promoter . . . . intronic . 0.0014036 . . . . . . . . . . 11 10 92680886 ANKRD1 G A 1 0.000998403 0.0002 . MedGen:CN239310 Dilated_Cardiomyopathy,_Dominant Uncertain_significance Name\x3dENSR00000411683|Promoter . . . . UTR5 . 0.0001921 . . Name\x3dOREG1645377|N/A|FOXA1|PAZAR,OREG1180501|N/A|TFAP2C|PAZAR,OREG1586947|N/A|FOXA1|PAZAR,OREG1670379|N/A|GATA2|PAZAR,OREG1891617|N/A|STAT1|PAZAR . . . . . . Name\x3d97.369042 5 10 101473218 COX15 A G 188 0.827077 0.8812 0.914 MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED_CT:67434000|MedGen:CN169374|MedGen:CN517202 Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency|not_specified|not_provided Benign . . . 0.8731 nonsynonymous_SNV exonic . 0.843488 T . . . B T . . 0.8733 . -0.5 10 101474499 COX15 T C 50 0.233427 0.3223 . . . . . . . 0.2825 . intronic . 0.256614 . . . . . . . . 0.2957 . -1 10 101487354 COX15 G T 1 0.000599042 0.0022 . . . . . . . 0.0026 . intronic . 0.0015459 . . . . . . . . 0.0033 . 0 10 112404302 RBM20 G A 32 0.222244 0.1405 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000033358|Promoter . . 0.1268 synonymous_SNV exonic . 0.0450188 . . . . . . . . . Name\x3d99.728733 2 10 112541062 RBM20 G A 1 0.0271565 0.0006 5.048 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0024 nonsynonymous_SNV exonic . 0.002542 T . Name\x3dOREG1515382|N/A|EGR1|PAZAR . D D . . 0.0016 Name\x3d99.772611 5 10 112541073 RBM20 T C 1 0.000199681 . -0.375 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1515382|N/A|EGR1|PAZAR,OREG1528648|N/A|ESR1|PAZAR . B T . . . Name\x3d99.808133 7.5 10 112541335 RBM20 A G 1 0.000199681 . -0.710 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1515382|N/A|EGR1|PAZAR . B T . . . Name\x3d99.868653 7.5 10 112541676 RBM20 T C 52 0.132987 0.2941 . . . . . . . 0.2642 . intronic . 0.0663575 . . . . . . . . 0.2788 Name\x3d97.503030 1 10 112541678 RBM20 G A 52 0.132987 0.2937 . . . . . . . 0.2641 . intronic . 0.0656719 . . . . . . . . . Name\x3d97.503030 1 10 112543217 RBM20 G A 153 0.788139 0.8054 . . . . . . . 0.7941 . intronic . 0.263664 . . . . . . . . 0.7879 . 0 10 112544042 RBM20 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 10 112544063 RBM20 A C 109 0.633986 0.5766 . . . . . . . 0.5832 . intronic . 0.189073 . . . . . . . . 0.5698 . 0 10 112544244 RBM20 G A 2 0.00778754 0.0035 . . . . . . . . . intronic . 0.0062241 . . . . . . . . 0.0066 Name\x3d95.775845 3 10 112544505 RBM20 G T 4 0.00139776 0.0033 . . . . . . . 0.0132 . intronic . 0.0009896 . . . . . . . . . . 0 10 112544655 RBM20 C T 41 0.164137 0.2280 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.2057 . intronic . 0.0562541 . . . . . . . . 0.2200 Name\x3d98.560524 1 10 112559490 RBM20 C A 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 4 10 112559652 RBM20 G A 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.842735 5 10 112570130 RBM20 G C 5 0.0365415 0.0222 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0268 . intronic . 0.0121538 . . . . . . . 0.024 0.0245 Name\x3d99.309749 1 10 112570147 RBM20 G A 1 0.000199681 0.0002 7.468 MedGen:C2750995,OMIM:613172|MedGen:CN230736 Dilated_cardiomyopathy_1DD|Cardiovascular_phenotype Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.751411 11 10 112570243 RBM20 T C 91 0.316494 0.3712 . . . . Name\x3dENSR00000949941|Enhancer . . 0.3967 . intronic . 0.11276 . . . . . . . . 0.3755 Name\x3d98.073799 2 10 112572147 RBM20 C T 1 0.000998403 0.0020 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0038 synonymous_SNV exonic . 0.0004722 . . . . . . . . . Name\x3d99.872771 3 10 112572458 RBM20 G C 214 0.991014 0.9997 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000415671|Enhancer . . 0.9998 nonsynonymous_SNV exonic . 0.31257 . . Name\x3dOREG1416621|N/A|E2F1|PAZAR . . . . . 0.9994 Name\x3d99.800262 4.5 10 112579791 RBM20 C T 1 0.000798722 0.0003 . . . . . . . 0.0011 . intronic . 0.0001876 . . . . . . . . . Name\x3d98.602422 3 10 112583178 RBM20 ATGTTGTATTTCTT A 1 0.00359425 . . . . . . . . . . intronic . 0.0001164 . . Name\x3dOREG1193056|N/A|TFAP2C|PAZAR,OREG1601177|N/A|FOXA1|PAZAR,OREG1659450|N/A|FOXA1|PAZAR . . . . . . Name\x3d97.877816,96.419048 4 10 112583294 RBM20 G A 3 0.00199681 0.0043 3.854 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0111 nonsynonymous_SNV exonic . 0.0010349 T . Name\x3dOREG1659450|N/A|FOXA1|PAZAR,OREG1601177|N/A|FOXA1|PAZAR . P D . . 0.0053 Name\x3d99.715618 2 10 112590778 RBM20 G C 1 0.0407348 0.0005 . . . . . . . 0.0005 . intronic . 0.0041073 . . . . . . . . 0.0013 Name\x3d95.774143 1 10 112590810 RBM20 G C 214 0.969649 0.9999 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.9996 . intronic . 0.305209 . . . . . . . . 0.9994 . 0 10 112590980 RBM20 C T 1 0.000199681 0.0005 . . . . . . . 0.0002 . intronic . 0.0001617 . . . . . . . . . . 2 10 112595719 RBM20 G C 172 0.697085 0.8763 5.504 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000415679|Promoter . . 0.8684 nonsynonymous_SNV exonic . 0.0048447 T . . . P D . . 0.8724 Name\x3d99.609389 5 10 121429394 BAG3 G A 7 0.00738818 0.0354 2.270 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0298 nonsynonymous_SNV exonic . 0.0204525 T . . . B T . . 0.0326 Name\x3d99.819489 2.5 10 121429412 BAG3 C T 1 0.000199681 0.0003 0.270 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374 Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0005 nonsynonymous_SNV exonic . 0.0002587 T . . . B T . . 0.0006 Name\x3d99.281516 4.5 10 121429633 BAG3 T C 34 0.0964457 0.2060 4.176 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign . . . 0.2235 nonsynonymous_SNV exonic rs2234962|Idiopathic-dilated-cardiomyopathy|1.52|4E-12|PMID:21459883 0.174092 T . . . P D . . 0.2073 Name\x3d99.802511 1 10 121429645 BAG3 G A 2 0.00179712 0.0031 0.668 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0046 nonsynonymous_SNV exonic . 0.0028525 T . . . B T . . . Name\x3d99.637626 4.5 10 121432040 BAG3 C T 1 0.000199681 . 2.527 MedGen:CN169374 not_specified Likely_benign . . . 1.846e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . B T . . . Name\x3d99.688381 6.5 10 121435955 BAG3 A C 164 0.635184 0.7204 . MedGen:CN169374 not_specified Benign . . . 0.7296 . intronic . 0.666641 . . . . . . . . 0.7245 Name\x3d99.108166 1 10 121436068 BAG3 T G 23 0.155751 0.0951 . MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign . . . 0.0835 synonymous_SNV exonic . 0.110755 . . . . . . . . 0.0881 Name\x3d99.818653 1 10 121436100 BAG3 A T 1 0.000199681 . 5.722 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . D D . . . Name\x3d99.835314 8 10 121436286 BAG3 C T 23 0.155551 0.0953 3.244 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign . . . 0.0833 nonsynonymous_SNV exonic . 0.112547 T . . . B D . . 0.0877 Name\x3d99.687790 1 10 121436362 BAG3 A G 176 0.70647 0.7807 . MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign . . Name\x3dMIMAT0003888|hsa-miR-766-3p|Experimental 0.7811 synonymous_SNV exonic . 0.740042 . . . . . . . . 0.7792 Name\x3d99.820161 2 11 533415 HRAS G A 1 0.000399361 0.0009 . . . . . . . 0.0004 . intronic . 0.0002652 . . Name\x3dOREG1841910|N/A|RB1|PAZAR,OREG1852450|N/A|RB1|PAZAR,OREG1511148|N/A|EGR1|PAZAR . . . . . 0.0007 Name\x3d99.732043 2 11 533546 HRAS G A 2 0.000798722 0.0015 . MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Costello_syndrome|Rasopathy|not_specified Benign . . . 0.0014 nonsynonymous_SNV exonic . 0.000925 . . Name\x3dOREG1852450|N/A|RB1|PAZAR,OREG1841910|N/A|RB1|PAZAR,OREG1848100|N/A|RB1|PAZAR,OREG1511148|N/A|EGR1|PAZAR . . . . . 0.0012 Name\x3d99.838963 3.5 11 533664 HRAS T A 2 0.000399361 0.0001 . . . . . . . 1.841e-05 . intronic . 5.82e-05 . . Name\x3dOREG1511148|N/A|EGR1|PAZAR,OREG1852450|N/A|RB1|PAZAR,OREG1841910|N/A|RB1|PAZAR . . . . . . Name\x3d99.071362 4 11 533821 HRAS G C 1 0.000199681 . 2.510 . . . Name\x3dENSR00000035647|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1841910|N/A|RB1|PAZAR,OREG1852450|N/A|RB1|PAZAR,OREG1848101|N/A|RB1|PAZAR,OREG1511148|N/A|EGR1|PAZAR . P T . . . Name\x3d99.776664 6.5 11 534197 HRAS C T 14 0.0766773 0.0469 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000035647|Promoter . . 0.0396 . intronic . 0.0639125 . . Name\x3dOREG1848102|N/A|RB1|PAZAR,OREG1852451|N/A|RB1|PAZAR,OREG1841911|N/A|RB1|PAZAR . . . . . 0.0431 Name\x3d98.639245 1 11 534242 HRAS A G 69 0.297125 0.3524 . MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Costello_syndrome|Rasopathy|not_specified|not_provided Benign Name\x3dENSR00000035647|Promoter . . 0.3275 synonymous_SNV exonic . 0.313334 . . Name\x3dOREG1848102|N/A|RB1|PAZAR,OREG1852451|N/A|RB1|PAZAR,OREG1841911|N/A|RB1|PAZAR . . . . . 0.3441 Name\x3d99.816824 3 11 534332 HRAS G A 7 0.0357428 0.0435 . MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN169374|MedGen:CN517202 Costello_syndrome|not_specified|not_provided Benign Name\x3dENSR00000035647|Promoter . . 0.0578 . UTR5 . 0.0432983 . . Name\x3dOREG1848102|N/A|RB1|PAZAR,OREG1852451|N/A|RB1|PAZAR,OREG1841911|N/A|RB1|PAZAR . . . . . 0.0462 Name\x3d98.963820 1 11 2466274 KCNQ1 G C 1 0.000199681 . . . . . Name\x3dENSR00000035945|Promoter . . . . UTR5 . 3.84e-05 . . Name\x3dOREG1500675|N/A|EGR1|PAZAR . . . . . . Name\x3d99.294939 7 11 2466501 KCNQ1 C T 1 0.000199681 . 3.646 . . . Name\x3dENSR00000035945|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1500675|N/A|EGR1|PAZAR . P D . . . Name\x3d99.919332 10 11 2549229 KCNQ1 C T 1 0.000399361 6.486e-05 3.595 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic rs143709408|Chronic-kidney-disease||2E-16|PMID:29124443 0.0001811 D . . . B T . . 0.0005 Name\x3d99.933882 3 11 2549230 KCNQ1 G A 1 0.000399361 0.0018 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0015 synonymous_SNV exonic . 0.001216 . . . . . . . . 0.0027 Name\x3d99.933882 3 11 2549257 KCNQ1 C T 1 0.0171725 0.0004 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified Benign/Likely_benign . . . 0.0004 . intronic . 0.0060543 . . . . . . . . 0.0003 Name\x3d99.111971 1 11 2549329 KCNQ1 TGG T 118 0.593251 0.6613 . . . . . . . . . intronic . 0.0002305 . . . . . . . . . Name\x3d98.602069,95.635312 1 11 2591802 KCNQ1 T G 1 0.00419329 0.0003 . . . . . . . . . intronic . 0.0016136 . . . . . . . . . Name\x3d97.064096 3 11 2591893 KCNQ1 C T 1 0.000199681 0.0014 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0011 synonymous_SNV exonic . 0.0009056 . . . . . . . . 0.0016 Name\x3d99.921392 3 11 2592033 KCNQ1 G A 1 0.000599042 0.0019 . . . . . . . 0.0018 . intronic . 0.0013777 . . . . . . . . 0.0037 Name\x3d97.707256 3 11 2593185 KCNQ1 C T 1 0.00658946 0.0282 . . . . . . . . . intronic . 0.0140234 . . . . . . . . . Name\x3d95.914149 1 11 2593416 KCNQ1 A G 58 0.328874 0.2313 . . . . . . . . . intronic . 0.290303 . . . . . . . . . Name\x3d95.111065 1 11 2594037 KCNQ1 C T 1 0.000399361 . . . . . . . . 7.526e-05 . intronic . 5.82e-05 . . . . . . . . 0.0001 Name\x3d96.009946 5 11 2594106 KCNQ1 C T 1 0.000399361 0.0003 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0009 synonymous_SNV exonic . 0.0004981 . . . . . . . . 0.0002 Name\x3d99.920096 3 11 2594268 KCNQ1 T G 3 0.00279553 0.0052 . . . . . . . 0.0062 . intronic . 0.0042108 . . . . . . . . 0.0039 . 6 11 2606519 KCNQ1 G A 1 0.000199681 6.48e-05 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified Benign/Likely_benign . . . 0.0001 synonymous_SNV exonic . 0.0002975 . . . . . . . . 0.0003 Name\x3d99.942483 5 11 2606621 KCNQ1 C T 8 0.00678914 0.0116 . . . . . . . . . intronic . 0.001837 . . . . . . . . . Name\x3d96.963998 1 11 2609919 KCNQ1 A G 1 0.000199681 . . . . . . . . 1.857e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.532182 5 11 2683152 KCNQ1OT1 T G 38 0.305112 0.0956 . . . . . . . 0.0938 . ncRNA_exonic . 0.119449 . . . . . . . . 0.0923 Name\x3d97.193237 -1 11 2683177 KCNQ1OT1 C T 4 0.0129792 0.0136 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified Benign/Likely_benign . . . 0.0105 . ncRNA_exonic . 0.0113259 . . . . . . . . 0.0138 Name\x3d98.940676 -1 11 2683329 KCNQ1OT1 C T 2 0.0191693 6.483e-05 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Benign . . . 0.0006 . ncRNA_exonic . 0.008952 . . . . . . . . 0.0002 Name\x3d99.228112 -1 11 2683357 KCNQ1OT1 A G 88 0.519768 0.4665 . . . . . . . 0.4504 . ncRNA_exonic . 0.441094 . . . . . . . . 0.4637 . -2 11 2683361 KCNQ1OT1 C G 1 0.00139776 0.0014 . . . . . . . 0.0017 . ncRNA_exonic . 0.0013195 . . . . . . . . 0.0034 . 0 11 2790019 KCNQ1 G A 8 0.0908546 0.0256 . . . . . . . . . intronic . 0.0080788 . . . . . . . . 0.0305 . 0 11 2790163 KCNQ1 T C 41 0.0461262 0.1083 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Cardiac_arrhythmia|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified Benign/Likely_benign . . . 0.1177 . intronic . 0.0867712 . . . . . . . . 0.1172 . 0 11 2797197 KCNQ1 G A 1 0.000199681 . 5.912 MedGen:CN517202 not_provided Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 2.59e-05 D . Name\x3dOREG1500684|N/A|EGR1|PAZAR . P D . . . Name\x3d99.937482 9 11 2797237 KCNQ1 G A 35 0.180911 0.2038 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.3016 synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1500684|N/A|EGR1|PAZAR . . . . . 0.1932 Name\x3d99.936874 2 11 2797320 KCNQ1 A G 149 0.668331 0.6854 . . . . . . . 0.6895 . intronic . 0.428591 . . Name\x3dOREG1500684|N/A|EGR1|PAZAR . . . . . 0.6891 Name\x3d96.805043 2 11 2798305 KCNQ1 T C 54 0.223842 0.2473 . . . . Name\x3dENSR00000952519|Promoter . . 0.2408 . intronic . 0.221019 . . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . . . . . 0.2302 . 2 11 2798341 KCNQ1 C T 1 0.000199681 . . . . . Name\x3dENSR00000952519|Promoter . . . . intronic . 3.84e-05 . . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . . . . . . . 6 11 2799211 KCNQ1 A G 1 0.000199681 . 0.782 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . B T . . . Name\x3d99.902951 6 11 2799299 KCNQ1 G T 9 0.0133786 0.0613 . . . . . . . 0.0475 . intronic . 0.0346373 . . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . . . . . 0.0511 Name\x3d97.401843 2 11 2799369 KCNQ1 C G 7 0.0155751 0.0285 . . . . . . . . . intronic . 0.0214 . . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.643325 2 11 2799380 KCNQ1 G A 2 0.000399361 0.0015 . . . . . . . . . intronic . 0.0003074 . . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.577914 4 11 2869002 KCNQ1 G A 1 0.000599042 0.0004 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0007 synonymous_SNV exonic . 0.0002587 . . Name\x3dOREG1493654|N/A|EGR1|PAZAR . . . . . 0.0009 Name\x3d99.887308 4 11 2869188 KCNQ1 C T 45 0.0832668 0.2683 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.3820 synonymous_SNV exonic . 0.142611 . . Name\x3dOREG1493654|N/A|EGR1|PAZAR . . . . . 0.2328 Name\x3d99.891667 2 11 6625566 ILK A G 1 0.000399361 0.0011 2.601 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374 Primary_familial_hypertrophic_cardiomyopathy|not_specified Likely_benign Name\x3dENSR00000036315|Promoter . . 0.0035 nonsynonymous_SNV exonic . 0.0013842 T . Name\x3dOREG1247960|N/A|SMARCA4|PAZAR . P T . . 0.0007 Name\x3d98.674504 6.5 11 6629332 ILK T C 1 0.000199681 . 3.622 MedGen:CN169374 not_specified Uncertain_significance . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P D . . . Name\x3d96.343153 5 11 6629665 ILK C T 58 0.314696 0.2617 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2626 synonymous_SNV exonic . 0.265527 . . . . . . . . 0.25 . 0 11 6630028 ILK TC T 214 1 1 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign . . . 1 . intronic . 0.0293981 . . . . . . . . . . 0 11 6630043 ILK C T 1 0.000199681 . -0.079 . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 11 6630410 ILK T C 51 0.120807 0.2600 . . . . . . . 0.2550 . intronic . 0.205761 . . . . . . . . 0.2548 . 0 11 6630524 ILK C T 1 0.000399361 0.0004 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_familial_hypertrophic_cardiomyopathy Benign . . . 0.0008 . intronic . 0.000705 . . . . . . 0.0003 0.014 0.0010 . 2 11 6630833 ILK G A 59 0.347444 0.2621 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2634 synonymous_SNV exonic . 0.275398 . . . . . . . . 0.2514 . 0 11 6630962 ILK C T 1 0.000199681 0.0002 . MedGen:CN169374 not_specified Benign . . Name\x3dMIMAT0000419|hsa-miR-27b-3p|Experimental 0.0003 synonymous_SNV exonic . 0.000194 . . . . . . . . 0.0002 . 5 11 6631016 ILK C T 51 0.160144 0.2683 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2599 synonymous_SNV exonic . 0.226996 . . . . . . . . 0.2647 . 1 11 6631300 ILK G A 8 0.00579073 0.0128 . . . . . . . 0.0173 . intronic . 0.0113647 . . . . . . . . 0.0177 . 0 11 6631561 ILK A C 1 0.00279553 0.0021 . . . . . . . 0.0021 . intronic . 0.002031 . . Name\x3dOREG1258265|N/A|SMARCA4|PAZAR . . . . . 0.0015 . 3 11 19204403 CSRP3 A G 43 0.155152 0.1940 . . . . . . . . . intronic . 0.034204 . . . . . . . . . . 0 11 19206426 CSRP3 A T 57 0.300919 0.2414 . . . . . . . . . intronic . 0.0516423 . . . . . . . . . Name\x3d96.688190 1 11 19207841 CSRP3 C T 28 0.0427316 0.0982 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN235865|MedGen:CN239310 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . Name\x3dMIMAT0000070|hsa-miR-17-5p|Experimental 0.1143 synonymous_SNV exonic . 0.0830002 . . . . . . . . 0.1073 Name\x3d99.546454 2 11 19209640 CSRP3 T C 1 0.00139776 0.0017 . . . . Name\x3dENSR00000954250|Enhancer . . 0.0033 . intronic . 0.0025032 . . . . . . . . 0.0024 Name\x3d99.613307 4 11 19209912 CSRP3 T A 2 0.00239617 0.0069 . . . . Name\x3dENSR00000954250|Enhancer . . . . intronic . 0.0010155 . . . . . . . . . . 3 11 19213986 CSRP3 A G 4 0.00179712 0.0047 5.529 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1843808,OMIM:607482|MedGen:C2677491,OMIM:612124|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1M|Familial_hypertrophic_cardiomyopathy_12|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0036 nonsynonymous_SNV exonic . 0.0027684 T . . . P D . . 0.0054 Name\x3d99.685021 10 11 47353498 MYBPC3 G A 24 0.356629 0.1750 . . . . . . . . . intronic . 0.0454199 . . Name\x3dOREG1504537|N/A|EGR1|PAZAR,OREG1183181|N/A|TFAP2C|PAZAR . . . . . 0.1747 Name\x3d98.840870 4 11 47354068 MYBPC3 G A 24 0.341454 0.1753 . MedGen:CN169374 not_specified Benign . . . 0.1609 . intronic . 0.240197 . . . . . . . . 0.1646 Name\x3d98.452619 3 11 47354787 MYBPC3 C T 49 0.476238 0.3168 . 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|MedGen:CN517202 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.3972 synonymous_SNV exonic . 0.353605 . . Name\x3dOREG1504538|N/A|EGR1|PAZAR . . . . . 0.3039 Name\x3d99.864445 4 11 47354851 MYBPC3 G C 1 0.000199681 . 1.231 MedGen:CN169374 not_specified Uncertain_significance . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1504538|N/A|EGR1|PAZAR . B T . . . Name\x3d99.873147 7.5 11 47354905 MYBPC3 T C 24 0.0329473 0.1183 . MedGen:CN169374 not_specified Benign . . . 0.1594 . intronic . 0.0585245 . . Name\x3dOREG1504538|N/A|EGR1|PAZAR . . . . . 0.1060 Name\x3d96.947408 2 11 47355233 MYBPC3 C G 1 0.000199681 . 7.255 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1861862,OMIM:115197|MedGen:CN169374 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified Conflicting_interpretations_of_pathogenicity . . . 3.719e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . D D . . . Name\x3d99.863446 11 11 47356644 MYBPC3 G C 7 0.0239617 . -2.099 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . . nonsynonymous_SNV exonic . 0.0007762 T . . . B T . . . Name\x3d99.774432 2.5 11 47357416 MYBPC3 G A 4 0.0547125 0.0284 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0619 . intronic . 0.0271342 . . . . . . . . 0.0257 Name\x3d98.758324 1 11 47357437 MYBPC3 G T 1 0.000199681 0.0004 0.220 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype Uncertain_significance . . . 0.0005 nonsynonymous_SNV exonic . 0.000207 T . . . B T . . . Name\x3d99.868602 4.5 11 47358997 MYBPC3 G A 4 0.048123 0.0413 . 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 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000430073|TF_binding_site . . 0.0378 synonymous_SNV exonic . 0.0437252 . . . . . . . . 0.0351 Name\x3d99.915080 2 11 47360053 MYBPC3 G C 4 0.0694888 0.0424 . MedGen:C1861862,OMIM:115197|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_4|not_specified Benign . . . 0.0386 . intronic . 0.0497212 . . . . . . . . 0.0363 Name\x3d99.461397 1 11 47361011 MYBPC3 C T 1 0.000798722 0.0039 . . . . . . . . . intronic . 0.0005175 . . . . . . . . 0.0038 Name\x3d98.908623 3 11 47361164 MYBPC3 T A 1 0.000798722 0.0095 . . . . . . . 0.0077 . intronic . 0.0029172 . . . . . . . . 0.0034 Name\x3d97.785442 3 11 47362465 MYBPC3 G C 25 0.340056 0.1882 . . . . . . . . . intronic rs10769254|Cardiovascular-disease||1E-15|PMID:30595370 0.246158 . . . . . . . . . Name\x3d96.364232 3 11 47362642 MYBPC3 C T 6 0.00898562 0.0229 . . . . . . . 0.0288 . intronic . 0.0122508 . . . . . . . . 0.0192 Name\x3d97.026346 1 11 47364187 MYBPC3 C T 1 0.000199681 0.0003 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 synonymous_SNV exonic . 0.000207 . . . . . . . . 0.0001 Name\x3d99.750641 5 11 47364762 MYBPC3 A G 214 0.964058 0.9992 . . . . . . . 0.9989 . intronic . 0.941696 . . . . . . . . 0.9982 Name\x3d96.831149 1 11 47365014 MYBPC3 C T 27 0.0782748 0.1177 . MedGen:CN169374 not_specified Benign . . . 0.1836 . intronic . 0.0767972 . . . . . . . . 0.1174 Name\x3d96.066008 1 11 47365199 MYBPC3 G A 68 0.249601 0.2912 . MedGen:CN169374 not_specified Benign . . . 0.3315 . intronic . 0.261911 . . . . . . . . 0.3084 Name\x3d99.405246 3 11 47365214 MYBPC3 G A 14 0.0147764 0.0434 . . . . . . . 0.0419 . intronic . 0.0221019 . . . . . . . . 0.0368 Name\x3d96.053271 1 11 47367738 MYBPC3 C A 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d97.810661 5 11 47367848 MYBPC3 C T 1 0.000998403 . 4.875 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 2.066e-05 nonsynonymous_SNV exonic . 0.0002911 T . . . P D . . . Name\x3d99.932637 3 11 47367871 MYBPC3 C T 1 0.000798722 0.0095 4.274 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 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1A|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0073 nonsynonymous_SNV exonic . 0.0039068 T . . . B D . . 0.0038 Name\x3d99.905358 3 11 47368153 MYBPC3 G T 2 0.00838658 0.0247 . . . . . . . 0.0260 . intronic . 0.0174771 . . . . . . . . 0.0242 Name\x3d99.235897 1 11 47368860 MYBPC3 AAACC A 1 0.00139776 0.0018 . . . . . . . . . intronic . 0.000461 . . . . . . . . . Name\x3d96.366485 3 11 47369443 MYBPC3 G A 26 0.0611022 0.1180 . 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 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.2346 synonymous_SNV exonic . 0.0725993 . . . . . . . . 0.1184 Name\x3d99.777187 1 11 47369453 MYBPC3 G A 1 0.000199681 . 1.955 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . Name\x3d99.854016 6.5 11 47370041 MYBPC3 T C 27 0.0670927 0.1217 0.243 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|MedGen:CN517202 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.1411 nonsynonymous_SNV exonic . 0.100898 T . . . B T . . 0.1263 Name\x3d99.574377 3.5 11 47370107 MYBPC3 G A 1 0.000199681 . . MedGen:CN169374 not_specified Likely_benign . . . 5.354e-05 . intronic . 1.94e-05 . . . . . . . . . Name\x3d96.555180 5 11 47370150 MYBPC3 C T 1 0.000399361 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d97.349997 5 11 47371261 MYBPC3 C T 1 0.00239617 0.0026 . . . . . . . . . intronic . 0.0019594 . . . . . . . . . Name\x3d97.566781 3 11 47371330 MYBPC3 T C 1 0.00179712 0.0008 1.738 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0010 nonsynonymous_SNV exonic . 0.0017852 T . . . P D . . 0.0012 Name\x3d99.807663 3 11 47371414 MYBPC3 C T 1 0.00199681 0.0025 2.583 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 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0033 nonsynonymous_SNV exonic . 0.0024191 T . . . B T . . 0.0034 Name\x3d99.756327 4.5 11 47371442 MYBPC3 G A 7 0.0249601 0.0466 . 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 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0495 synonymous_SNV exonic . 0.0392039 . . . . . . . . 0.0463 Name\x3d99.788302 1 11 47371484 MYBPC3 AG A 164 0.610823 0.7227 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.7338 . intronic . 0.0186738 . . . . . . . . 0.7248 Name\x3d96.588193 1 11 47371578 MYBPC3 G A 3 0.00838658 0.0301 . 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 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0539 synonymous_SNV exonic . 0.015168 . . . . . . . . 0.0307 Name\x3d99.855628 1 11 47371598 MYBPC3 C T 21 0.0329473 0.1015 4.662 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 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.1541 nonsynonymous_SNV exonic . 0.0469787 T . . . P D . . 0.0864 Name\x3d99.787283 1 11 47371664 MYBPC3 C T 1 0.000199681 . 3.139 . . . . . . 0.0002 . splicing . 1.29e-05 . . . . . . 1.0000 0.948 . Name\x3d99.189846 14 11 47372741 MYBPC3 C A 2 0.000798722 0.0012 . . . . . . . 0.0030 . intronic . 0.0005304 . . . . . . . . 0.0018 Name\x3d99.313923 3 11 47372749 MYBPC3 C G 1 0.0607029 0.0261 . . . . . . . 0.0365 . intronic . 0.0236025 . . . . . . . . 0.0217 Name\x3d99.313923 1 11 74168330 KCNE3 A G 1 0.000199681 . . . . . . . . 5.598e-05 synonymous_SNV exonic . 4.53e-05 . . . . . . . . . Name\x3d98.824776 3 11 74168361 KCNE3 C T 1 0.000998403 0.0050 2.265 EFO:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,MedGen:C0042510,SNOMED_CT:71908006|Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070|Human_Phenotype_Ontology:HP:0003768,MedGen:C1279412|MedGen:C2751089,OMIM:613119|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Ventricular_fibrillation|Syncope|Periodic_paralysis|Brugada_syndrome_6|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0042 nonsynonymous_SNV exonic . 0.0030595 D . . . B D . . 0.0068 Name\x3d98.553020 4 11 74168411 KCNE3 A G 25 0.141174 0.1309 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.1168 synonymous_SNV exonic rs2270676|Corneal-astigmatism|1.29|5E-6|PMID:22144915 0.128297 . . . . . . . . 0.1084 Name\x3d99.003009 -1 11 111781003 CRYAB A T 1 0.000199681 . . . . . Name\x3dENSR00000044928|Promoter . . 1.86e-05 . intronic . 1.29e-05 . . Name\x3dOREG1496730|N/A|EGR1|PAZAR . . . . . . Name\x3d99.450023 7 11 111781047 CRYAB A C 75 0.239816 0.2796 -0.652 Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446 Posterior_polar_cataract|Alpha-B_crystallinopathy|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant Benign Name\x3dENSR00000044928|Promoter . . 0.2925 . intronic . 0.26968 T . Name\x3dOREG1496730|N/A|EGR1|PAZAR . B T . . 0.3000 Name\x3d99.411629 5 11 111782284 CRYAB C T 4 0.0091853 0.0212 . Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:C3554649,OMIM:615184|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446 Posterior_polar_cataract|Alpha-B_crystallinopathy|Dilated_cardiomyopathy_1II|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant Benign Name\x3dENSR00000044928|Promoter . . 0.0238 synonymous_SNV exonic . 0.0158148 . . . . . . . . 0.0226 Name\x3d99.834016 2 11 118011860 SCN4B G A 43 0.141973 0.1833 . . . . . . . . . intronic . 0.0361121 . . Name\x3dOREG1485369|N/A|EGR1|PAZAR . . . . . . . -1 11 118015832 SCN4B G A 8 0.0349441 0.0373 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678484,OMIM:611819|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_10|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0400 synonymous_SNV exonic . 0.0353876 . . Name\x3dOREG1485365|N/A|EGR1|PAZAR . . . . . 0.0374 Name\x3d99.865055 0 11 118015959 SCN4B C G 2 0.000399361 . . . . . Name\x3dENSR00000045588|Promoter . . 9.28e-05 . UTR5 . 4.53e-05 . . Name\x3dOREG1485365|N/A|EGR1|PAZAR . . . . . . Name\x3d99.139305 5 11 118023424 SCN4B G C 1 0.000199681 0.0001 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000443850|Promoter . . 4.876e-05 . UTR5 . 3.88e-05 . . Name\x3dOREG1943539|N/A|ZNF263|PAZAR . . . . . . Name\x3d99.629526 5 11 118037564 SCN2B G A 23 0.0780751 0.1038 . . . . . . . 0.1062 . UTR3 . 0.0890674 . . Name\x3dOREG1502562|N/A|EGR1|PAZAR . . . . . 0.0928 Name\x3d98.015659 0 11 118037569 SCN2B C T 1 0.000399361 . . . . . . . . 3.683e-05 . UTR3 . 4.53e-05 . . Name\x3dOREG1502562|N/A|EGR1|PAZAR . . . . . . Name\x3d98.015659 4 11 118037813 SCN2B G T 110 0.514377 0.4682 . MedGen:CN169374 not_specified Benign . . . 0.4746 . intronic . 0.489121 . . Name\x3dOREG1502562|N/A|EGR1|PAZAR . . . 0.0003 0.034 0.4707 . 0 11 118038741 SCN2B C T 3 0.251797 0.0211 . . . . . . . . . intronic . 0.0152521 . . . . . . . . . . -2 11 118039016 SCN2B G A 1 0.000199681 . . MedGen:C3809312,OMIM:615378 Atrial_fibrillation,_familial,_14 Likely_benign . . . . . intronic . 6.5e-06 . . . . . . 0.0001 0.01 . Name\x3d99.133619 3 11 118039273 SCN2B T C 8 0.249601 0.0106 . . . . . . . 0.0152 . intronic . 0.0828903 . . . . . . . . 0.0163 . -2 11 123504959 SCN3B C G 126 0.750599 0.5417 . . . . . . . 0.5547 . intronic . 0.605458 . . . . . . . . 0.5523 . -2 11 123508842 SCN3B A G 3 0.0958466 0.0143 . . . . . . . . . intronic . 0.0072832 . . . . . . . . 0.0113 . -2 11 123513161 SCN3B G A 25 0.0820687 0.0878 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0911 synonymous_SNV exonic . 0.0865254 . . . . . . . . 0.0896 Name\x3d99.804817 -1 11 123513341 SCN3B G A 1 0.000199681 0.0001 . . . . . . . 7.425e-05 synonymous_SNV exonic . 6.5e-06 . . . . . . . . 0.0002 Name\x3d99.869310 3 11 123524389 SCN3B A G 1 0.0443291 0.0022 . . . . Name\x3dENSR00000445310|Promoter . . . . intronic . 0.0043596 . . Name\x3dOREG1510012|N/A|EGR1|PAZAR . . . . . 0.0022 Name\x3d98.903517 1 11 123524411 SCN3B G A 32 0.142173 0.1371 . . . . Name\x3dENSR00000445310|Promoter . . 0.1413 . intronic . 0.143814 . . Name\x3dOREG1510012|N/A|EGR1|PAZAR . . . . . 0.1395 Name\x3d98.921114 1 11 128781287 KCNJ5 C T 1 0.000599042 . 5.122 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 5.17e-05 D . . . D D . . . Name\x3d99.920523 7 11 128781339 KCNJ5 T C 188 0.869808 0.8248 . MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.8289 synonymous_SNV exonic . 0.833178 . . . . . . . . 0.8250 Name\x3d99.914987 -1 11 128781441 KCNJ5 C T 1 0.000199681 0.0004 . MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified Benign/Likely_benign . . . 0.0002 synonymous_SNV exonic . 0.0002587 . . . . . . . . 0.0009 Name\x3d99.911585 1 11 128781606 KCNJ5 C T 1 0.000399361 . . . . . . . . . synonymous_SNV exonic . 4.53e-05 . . . . . . . . . Name\x3d99.889317 3 11 128781978 KCNJ5 T G 188 0.866214 0.8211 . MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.8270 synonymous_SNV exonic . 0.829368 . . . . . . . . 0.8216 Name\x3d99.918617 0 11 128782002 KCNJ5 T C 188 0.867013 0.8210 . MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.8269 synonymous_SNV exonic . 0.822868 . . . . . . . . 0.8216 Name\x3d99.923949 0 11 128782012 KCNJ5 C G 213 0.995008 0.9777 0.157 MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.9786 nonsynonymous_SNV exonic . 0.967031 T . . . B T . . 0.9820 Name\x3d99.837086 0.5 11 128782112 KCNJ5 C T 3 0.076278 0.0079 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified Benign Name\x3dENSR00000963232|Enhancer . . 0.0109 . intronic . 0.0296827 . . . . . . 0.0001 . 0.0083 Name\x3d96.830285 0 11 128786294 KCNJ5 G A 179 0.735823 0.7279 . MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified Benign . . . 0.7328 . intronic . 0.724635 . . . . . . . 0.002 0.7279 . -2 12 2224511 CACNA1C C T 5 0.0117812 0.0219 . 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:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0380 synonymous_SNV exonic . 0.0177165 . . . . . . . . 0.0235 Name\x3d99.624601 1 12 2224553 CACNA1C G A 1 0.013778 0.0001 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0007 synonymous_SNV exonic . 0.0038809 . . . . . . . . 0.0005 Name\x3d99.337287 1 12 2229476 CACNA1C G A 6 0.0253594 0.0220 . MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374 Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified Benign/Likely_benign . . . 0.0265 . intronic . 0.0250061 . . . . . . . . 0.0265 Name\x3d99.279141 1 12 2558186 CACNA1C G A 54 0.120407 0.2137 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign . . . 0.2520 synonymous_SNV exonic . 0.171744 . . . . . . . . 0.2146 Name\x3d99.668478 1 12 2558292 CACNA1C C T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d95.895333 5 12 2558298 CACNA1C G A 63 0.260184 0.2575 . MedGen:CN169374 not_specified Benign . . . 0.2776 . intronic . 0.139623 . . . . . . . . 0.2386 Name\x3d95.895333 1 12 2558300 CACNA1C T C 63 0.26258 0.2574 . MedGen:CN169374 not_specified Benign . . . 0.2776 . intronic . 0.140063 . . . . . . . . 0.2332 Name\x3d95.895333 1 12 2602288 CACNA1C C T 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d98.583121 5 12 2602307 CACNA1C C G 11 0.0876597 0.0489 . . . . . . . 0.0526 . intronic . 0.052412 . . . . . . . . 0.0491 Name\x3d95.577165 1 12 2613521 CACNA1C A G 96 0.546326 0.3714 . . . . . . . . . intronic . 0.0817842 . . Name\x3dOREG1231293|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.410224 2 12 2613716 CACNA1C C T 26 0.0782748 0.0718 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0806 . intronic . 0.0752836 . . . . . . . . 0.0868 Name\x3d99.228769 1 12 2614070 CACNA1C G T 1 0.000399361 0.0031 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0035 synonymous_SNV exonic . 0.0021927 . . . . . . . . 0.0034 Name\x3d99.805318 3 12 2621912 CACNA1C G A 20 0.0597045 0.0448 . . . . . . . . . intronic . 0.0089456 . . . . . . . . . . 0 12 2622016 CACNA1C G C 1 0.000199681 . 5.692 . . . . . . 1.952e-05 nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.619773 11 12 2659082 CACNA1C G T 59 0.294928 0.2291 . . . . . . . 0.3213 . intronic . 0.208788 . . . . . . . . 0.2256 Name\x3d98.769595 1 12 2666051 CACNA1C T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 12 2675802 CACNA1C G A 5 0.0561102 0.0117 . . . . . . . . . intronic . 0.0345781 . . Name\x3dOREG1501388|N/A|EGR1|PAZAR . . . . . . Name\x3d95.105736 2 12 2676683 CACNA1C C T 166 0.86222 0.8408 . . . . . . . . . intronic . 0.170593 . . Name\x3dOREG1501388|N/A|EGR1|PAZAR . . . . . . Name\x3d98.331030 2 12 2690702 CACNA1C G A 127 0.586661 0.7184 . . . . . . . . . intronic . 0.118343 . . . . . . . . . . 0 12 2692186 CACNA1C T G 153 0.632588 0.7738 . . . . Name\x3dENSR00000448446|Promoter . . . . intronic . 0.0001153 . . Name\x3dOREG1180333|N/A|TFAP2C|PAZAR,OREG1837260|N/A|PRDM14|PAZAR,OREG1231295|N/A|SMARCA4|PAZAR . . . . . . Name\x3d98.994648 3 12 2693848 CACNA1C G A 1 0.00339457 0.0003 . . . . . . . . . intronic . 0.0010373 . . . . . . . . . Name\x3d96.799344 3 12 2694470 CACNA1C G A 1 0.0415335 0.0006 . . . . . . . . . intronic . 0.0122176 . . . . . . . . . Name\x3d96.765479 1 12 2694638 CACNA1C C T 25 0.145567 0.0772 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign . . . 0.1356 synonymous_SNV exonic . 0.0873727 . . . . . . . . 0.0786 Name\x3d99.726858 1 12 2694651 CACNA1C C T 2 0.00159744 0.0054 4.997 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0074 nonsynonymous_SNV exonic . 0.0021927 D . . . D T . . 0.0047 Name\x3d99.801019 6 12 2695136 CACNA1C C T 2 0.00638978 0.0206 . . . . . . . . . intronic . 0.0027167 . . . . . . . . 0.0189 Name\x3d95.798291 1 12 2706720 CACNA1C G C 204 0.951278 0.9756 . . . . . . . . . intronic . 0.186485 . . . . . . . . 0.9739 Name\x3d97.694135 1 12 2706781 CACNA1C G A 1 0.000599042 0.0001 . . . . . . . . . intronic . 0.0002305 . . . . . . . . . Name\x3d97.842218 3 12 2714835 CACNA1C C T 1 0.00119808 0.0006 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0015 . intronic . 0.0010543 . . Name\x3dOREG1501389|N/A|EGR1|PAZAR . . . . . 0.0012 Name\x3d98.993995 4 12 2715687 CACNA1C A G 33 0.0535144 0.1081 . . . . . . . . . intronic . 0.0135703 . . . . . . . . . Name\x3d95.250824 1 12 2715941 CACNA1C G A 2 0.00678914 0.0002 . . . . . . . . . intronic . 0.0020363 . . . . . . . . . Name\x3d97.069674 3 12 2717661 CACNA1C C A 1 0.000199681 6.482e-05 . . . . . . . 9.811e-05 . intronic . 5.82e-05 . . . . . . . . . Name\x3d99.787542 5 12 2719934 CACNA1C C T 33 0.052516 0.1079 . . . . . . . . . intronic . 0.0157242 . . . . . . . . . . 0 12 2720988 CACNA1C T C 60 0.261781 0.1898 . . . . . . . . . intronic . 0.0394756 . . . . . . . . . . 0 12 2721137 CACNA1C C T 60 0.259185 0.1903 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign . . . 0.1837 synonymous_SNV exonic . 0.205521 . . . . . . . . . Name\x3d99.826561 1 12 2743567 CACNA1C C T 1 0.000199681 0.0001 . . . . . . . 0.0003 . intronic . 0.0001164 . . . . . . . . 0.0001 Name\x3d99.663284 5 12 2743650 CACNA1C A AT 48 0.204273 0.2752 . . . . . . . . . intronic . 0.0026126 . . . . . . . . . Name\x3d97.825804 1 12 2757756 CACNA1C T C 153 0.666933 0.8153 . . . . . . . . . intronic . 0.659136 . . . . . . . . . Name\x3d97.554267 1 12 2757769 CACNA1C T C 154 0.666534 0.8153 . . . . . . . . . intronic . 0.124015 . . . . . . . . . Name\x3d98.534468 1 12 2757782 CACNA1C C T 152 0.652955 0.8011 . . . . . . . . . intronic . 0.141686 . . . . . . . . . Name\x3d99.318145 1 12 2760708 CACNA1C G A 148 0.670727 0.7791 . . . . . . . 0.7638 . intronic . 0.731414 . . . . . . . . 0.7671 Name\x3d98.468885 1 12 2760898 CACNA1C C T 13 0.023762 0.0682 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0688 synonymous_SNV exonic . 0.0483758 . . . . . . . . 0.0673 Name\x3d99.830000 1 12 2760965 CACNA1C GA G 79 0.382987 0.2604 . . . . . . . 0.2907 . intronic . 0.0092431 . . . . . . . . 0.2809 . 0 12 2760970 CACNA1C G A 132 0.553914 0.7353 . . . . . . . 0.7238 . intronic . 0.652786 . . . . . . . . 0.7204 . 0 12 2763143 CACNA1C G T 3 0.0119808 0.0022 . . . . . . . . . intronic . 0.0009185 . . . . . . . . . Name\x3d96.979367 1 12 2774833 CACNA1C T C 3 0.0385383 0.0030 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign . . . 0.0031 synonymous_SNV exonic . 0.0139067 . . . . . . . . 0.0035 Name\x3d99.828309 1 12 2778044 na G A 1 0.000199681 0.0003 . . . . . . . . . ncRNA_exonic . 2.59e-05 . . . . . . . . . . 2 12 2778061 na C G 1 0.0738818 0.0008 . . . . . . . 0.0007 . ncRNA_exonic . 0.0217591 . . . . . . . . 0.0009 . -2 12 2778272 na G GC 11 0.104633 0.0394 . . . . . . . . . ncRNA_intronic . 0.0134855 . . . . . . . . . . -2 12 2786193 na A G 1 0.000199681 6.495e-05 . . . . . . . . . ncRNA_exonic . 7.68e-05 . . . . . . . . . . 2 12 2787058 na C T 9 0.0802716 0.0356 . . . . . . . 0.0345 . ncRNA_exonic . 0.0538738 . . . . . . . . 0.0346 . -2 12 2788615 CACNA1C C T 3 0.00299521 0.0135 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0297 synonymous_SNV exonic . 0.0056403 . . . . . . . . 0.0072 Name\x3d99.792239 1 12 2788637 CACNA1C G A 1 0.000199681 0.0003 4.307 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0007 nonsynonymous_SNV exonic . 0.0002652 D . . . P T . . 0.0001 Name\x3d99.762694 3 12 2788732 CACNA1C C A 2 0.000998403 0.0016 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0024 synonymous_SNV exonic . 0.0012548 . . . . . . . . 0.0020 Name\x3d99.694112 3 12 2788810 CACNA1C C T 11 0.019369 0.0678 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0681 synonymous_SNV exonic . 0.044579 . . . . . . . . 0.0613 Name\x3d99.722031 1 12 2788879 CACNA1C G A 137 0.526358 0.7400 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign . . . 0.7357 synonymous_SNV exonic . 0.628414 . . . . . . . . 0.7295 Name\x3d99.549075 1 12 2788925 CACNA1C C A 1 0.000199681 . . . . . . . . 9.595e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.646159 5 12 2789787 na A G 13 0.189097 0.0439 . . . . . . . 0.0449 . ncRNA_intronic . 0.0354717 . . . . . . . . 0.0338 . -2 12 2789789 na C G 13 0.189097 0.0439 . . . . . . . 0.0466 . ncRNA_intronic . 0.0354394 . . . . . . . . 0.0340 . -2 12 2791130 CACNA1C C T 170 0.669129 0.8197 0.086 MedGen:CN169374 not_specified Benign . . . 0.8096 nonsynonymous_SNV exonic . 0.726103 T . . . B T . . 0.8213 Name\x3d98.816671 2.5 12 2791132 CACNA1C A G 174 0.770567 0.8267 0.106 MedGen:CN169374 not_specified Benign . . . 0.8186 nonsynonymous_SNV exonic . 0.0007827 T . . . B T . . 0.8310 Name\x3d98.793459 2.5 12 2791205 CACNA1C A G 214 1 1 . MedGen:CN169374 not_specified Benign . . . 1 nonsynonymous_SNV exonic . 0.928746 . . . . . . . . 1 Name\x3d98.807959 2.5 12 2791722 CACNA1C C T 1 0.000199681 0.0006 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided Likely_benign . . . 0.0006 synonymous_SNV exonic . 0.0004269 . . Name\x3dOREG1928344|N/A|TRIM28|PAZAR . . . . . 0.0006 Name\x3d99.719640 4 12 2794977 CACNA1C G A 4 0.0359425 0.0202 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0298 synonymous_SNV exonic . 0.0253748 . . . . . . . . . Name\x3d99.578635 1 12 2795023 na C T 1 0.0159744 0.0002 . MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374 Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified Benign/Likely_benign . . . 3.813e-05 . ncRNA_intronic . 0.0045213 . . . . . . . . . Name\x3d98.196180 -1 12 2795255 na C T 199 0.770767 0.9554 . . . . . . . . . ncRNA_intronic . 0.0001153 . . . . . . . . . Name\x3d95.652066 -1 12 2797824 CACNA1C C T 1 0.000399361 6.494e-05 0.108 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Uncertain_significance . . . 5.644e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . B T . . . Name\x3d99.294279 6.5 12 2798006 na C T 1 0.000399361 0.0009 . . . . . . . . . ncRNA_intronic . 0.0013831 . . . . . . . . . . 0 12 5153694 KCNA5 C T 5 0.0147764 0.0416 . MedGen:C2677106,OMIM:612240|MedGen:C3468561,Orphanet:ORPHA334 Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation Benign/Likely_benign Name\x3dENSR00000449123|Promoter . . 0.0376 synonymous_SNV exonic . 0.0275029 . . . . . . . . 0.0411 Name\x3d99.913473 0 12 5153820 KCNA5 G T 1 0.000199681 . . . . . Name\x3dENSR00000449123|Promoter . . 1.855e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.932107 4 12 5154064 KCNA5 G A 2 0.0081869 0.0181 1.589 MedGen:C2677106,OMIM:612240|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374 Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation|not_specified Benign/Likely_benign Name\x3dENSR00000449123|Promoter . . 0.0119 nonsynonymous_SNV exonic . 0.0127036 T . . . B T . . 0.0127 Name\x3d99.914867 1.5 12 5154232 KCNA5 C T 1 0.00139776 0.0035 -2.109 MedGen:C2677106,OMIM:612240|MedGen:CN231063 Atrial_fibrillation,_familial,_7|altered_potassium_channel_function Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000449123|Promoter . . 0.0030 nonsynonymous_SNV exonic . 0.0021022 D . . . B T . . 0.0028 Name\x3d99.823197 2 12 5154242 KCNA5 C T 1 0.00319489 0.0055 1.204 MedGen:C2677106,OMIM:612240|MedGen:CN169374 Atrial_fibrillation,_familial,_7|not_specified Benign Name\x3dENSR00000449123|Promoter . . 0.0054 nonsynonymous_SNV exonic . 0.0039974 T . . . B T . . 0.0064 Name\x3d99.836173 3.5 12 5154277 KCNA5 G T 1 0.000199681 . 5.771 . . . Name\x3dENSR00000449123|Promoter . . 1.853e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.899245 10 12 5154462 KCNA5 T C 214 0.98103 0.9999 . MedGen:C2677106,OMIM:612240|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374 Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation|not_specified Benign/Likely_benign Name\x3dENSR00000449123|Promoter . . 1.0000 synonymous_SNV exonic . 0.0001423 . . . . . . . . 0.9999 Name\x3d99.867730 0 12 5155046 KCNA5 G A 2 0.00319489 0.0084 0.664 MedGen:C2677106,OMIM:612240|MedGen:C4551804,OMIM:601144|MedGen:CN169374 Atrial_fibrillation,_familial,_7|Brugada_syndrome_1|not_specified Benign Name\x3dENSR00000449123|Promoter . . 0.0082 nonsynonymous_SNV exonic . 0.0059184 T . . . B D . . 0.0093 Name\x3d99.856854 2 12 5155130 KCNA5 A G 1 0.000199681 . 5.406 . . . Name\x3dENSR00000449123|Promoter . . 1.895e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.918375 10 12 21918616 KCNJ8 G A 1 0.000199681 . . . . . . . . 0.0001 . UTR3 . 8.41e-05 . . . . . . . . 0.0002 . 2 12 21918667 KCNJ8 G A 1 0.000199681 0.0005 2.046 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0026 nonsynonymous_SNV exonic . 0.0014618 T . . . B T . . 0.0022 Name\x3d98.098618 2.5 12 21926614 KCNJ8 C T 1 0.000199681 . . . . . Name\x3dENSR00000049646|Promoter . . . . UTR5 . 3.84e-05 . . Name\x3dOREG1575939|N/A|FOXA1|PAZAR,OREG1634675|N/A|FOXA1|PAZAR . . . . . . . 4 12 21960458 ABCC9 T C 1 0.000199681 . . . . . . . . 1.845e-05 . intronic . 1.29e-05 . . . . . . . . . . 4 12 21962721 ABCC9 G A 1 0.000998403 6.483e-05 . . . . . . . . . intronic . 0.0002305 . . . . . . . . . . 2 12 21965173 ABCC9 CTTAG C 4 0.00638978 0.0086 . . . . . . . . . intronic . 0.0019594 . . . . . . . . . . 6 12 21971087 ABCC9 A G 1 0.000998403 0.0031 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1837839,OMIM:608569|MedGen:CN169374 Cardiomyopathy|Dilated_cardiomyopathy_1O|not_specified Benign . . . 0.0032 synonymous_SNV exonic . 0.0019017 . . . . . . . . 0.0031 Name\x3d99.237309 3 12 21981916 ABCC9 G A 1 0.000199681 . . . . . . . . 1.84e-05 synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1574897|N/A|FOXA1|PAZAR,OREG1633616|N/A|FOXA1|PAZAR . . . . . . Name\x3d99.451843 6 12 21991197 ABCC9 T C 4 0.0115815 0.0345 . . . . . . . . . intronic . 0.0057761 . . . . . . . . . . 0 12 21995253 ABCC9 G A 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.285821 5 12 21997678 ABCC9 G T 1 0.000199681 . . . . . . . . 3.686e-05 . intronic . 1.94e-05 . . . . . . . . . . 4 12 21997874 ABCC9 C T 5 0.0501198 0.0347 . . . . . . . 0.0366 . intronic . 0.0356528 . . . . . . . . 0.0420 . 0 12 21998493 ABCC9 A C 1 0.00239617 6.483e-05 . . . . . . . 0.0019 . intronic . 0.00174 . . . . . . . . 0.0007 . 2 12 22001255 ABCC9 G A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 12 22001272 ABCC9 C T 5 0.0117812 0.0158 . . . . . . . . . intronic . 0.0032859 . . . . . . . . . . 0 12 22005003 ABCC9 T G 84 0.334665 0.4031 . MedGen:CN169374 not_specified Benign . . . 0.4102 . intronic rs2307024|Offspring-birth-weight|0.016621|3E-8|PMID:31043758 0.382576 . . . . . . . . 0.4124 . 0 12 22005167 ABCC9 C T 2 0.00259585 0.0139 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310 Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0090 . intronic . 0.0064876 . . . . . . . 0.036 0.0098 Name\x3d97.879803 1 12 22005258 ABCC9 G T 13 0.0171725 0.0456 . . . . . . . 0.0512 . intronic . 0.0345144 . . . . . . . . 0.0512 . 0 12 22005510 ABCC9 A G 214 0.994609 0.9999 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 12 22015858 ABCC9 G A 1 0.000199681 . . . . . . . . 2.008e-05 . intronic . 1.29e-05 . . . . . . . . 0.0001 . 4 12 22016004 ABCC9 GA AA,GAA,G 1 0.360423 0.3192 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.4118 . intronic . 0.0193076 . . . . . . . . . . 0 12 22017278 ABCC9 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d95.997264 5 12 22017398 ABCC9 C T 1 0.000199681 . 3.625 . . . . . . 3.698e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . B T . . . Name\x3d99.052726 5 12 22017410 ABCC9 C T 1 0.00399361 0.0089 2.389 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 Cardiomyopathy|Myocardial_infarction|Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0103 nonsynonymous_SNV exonic . 0.0077942 T . . . B T 0.0344 0.194 0.0132 Name\x3d99.147069 2.5 12 22017422 ABCC9 A G 214 0.998203 1 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 1 . intronic . 0.941288 . . . . . . 0.7220 0.39 1 Name\x3d99.030706 1.5 12 22017428 ABCC9 C G 1 0.000199681 . . . . . . . . 3.698e-05 . intronic . 1.94e-05 . . . . . . . . 0.0001 Name\x3d99.030706 5 12 22017486 ABCC9 C G 214 0.998203 1 . . . . . . . . . intronic . 0.0001153 . . . . . . . . 1 . 0 12 22025671 ABCC9 A G 1 0.000798722 0.0045 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1837839,OMIM:608569|MedGen:CN169374 Hypertrichotic_osteochondrodysplasia|Brugada_syndrome|Dilated_cardiomyopathy_1O|not_specified Benign/Likely_benign . . . 0.0039 . intronic . 0.0028072 . . . . . . 0.0001 0.002 0.0035 . 2 12 22035615 ABCC9 A T 3 0.0391374 0.0156 . . . . . . . . . intronic . 0.0044372 . . . . . . . . . . 0 12 22035847 ABCC9 T C 1 0.000199681 . . . . . . . . 3.7e-05 . intronic . 2.59e-05 . . . . . . . . . . 4 12 22035873 ABCC9 C T 150 0.534744 0.7825 . . . . . . . . . intronic . 0.135432 . . . . . . . . . . 0 12 22035883 ABCC9 T G 53 0.421925 0.2004 . . . . . . . . . intronic . 0.0519528 . . . . . . . . . . 0 12 22040784 ABCC9 C A 2 0.000399361 0.0005 2.197 MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0002 nonsynonymous_SNV exonic . 0.000194 T . . . B T . . 0.0010 Name\x3d99.309743 4.5 12 22040854 ABCC9 T G 1 0.000199681 6.478e-05 2.400 MedGen:C1837839,OMIM:608569 Dilated_cardiomyopathy_1O Uncertain_significance . . . 3.683e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . 0.0001 Name\x3d99.208202 6.5 12 22047151 ABCC9 G T 214 0.997804 1 . MedGen:CN169374 not_specified Benign . . . 1.0000 . intronic . 0.934878 . . . . . . . . 1 . 0 12 22047174 ABCC9 C T 166 0.686302 0.6842 . . . . . . . . . intronic . 0.131344 . . . . . . . . . . 0 12 22059121 ABCC9 C T 2 0.000399361 0.0002 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C1837839,OMIM:608569|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Dilated_cardiomyopathy_1O|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0006 synonymous_SNV exonic . 0.0003169 . . Name\x3dOREG1633617|N/A|FOXA1|PAZAR . . . . . 0.0002 Name\x3d99.613253 4 12 22059244 ABCC9 A G 1 0.000199681 . . . . . . . . 3.902e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d95.635949 5 12 22063115 ABCC9 A G 214 0.997204 1 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000965892|Enhancer . . 1.0000 synonymous_SNV exonic . 0.941314 . . . . . . . . 1 Name\x3d99.146457 2 12 22063251 ABCC9 CA C 72 0.375799 0.4676 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310 Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.4487 . intronic . 0.0001164 . . . . . . . . . . 0 12 22063737 ABCC9 G T 214 0.991613 0.9997 . MedGen:CN169374 not_specified Benign . . . 0.9998 . intronic . 0.00011 . . . . . . . . 0.9998 . 0 12 22063749 ABCC9 T C 214 0.991613 0.9997 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.9998 . intronic . 0.0001164 . . . . . . . . 0.9998 . 0 12 22063971 ABCC9 A G 154 0.667332 0.6022 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 12 22068591 ABCC9 C T 1 0.000399361 . . MedGen:CN169374 not_specified Likely_benign . . . 0.0001 . intronic . 0.0001229 . . . . . . . . 0.0001 Name\x3d98.197308 5 12 22068849 ABCC9 G T 148 0.644768 0.5918 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.6004 . intronic . 0.600891 . . . . . . 0.0003 0.1 0.5925 Name\x3d98.653107 1 12 22078838 ABCC9 T G 155 0.701677 0.6030 . MedGen:CN169374 not_specified Benign . . . 0.6145 . intronic . 0.628918 . . . . . . . . 0.6074 . 0 12 22089425 ABCC9 A G 1 0.00199681 0.0078 . . . . . . . 0.0101 . intronic . 0.0059637 . . . . . . . . 0.0088 . 0 12 25362777 KRAS A G 46 0.175519 0.2130 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified|not_provided Benign . . . 0.2221 synonymous_SNV exonic . 0.194758 . . . . . . . . 0.2160 Name\x3d99.450857 -1 12 25362854 KRAS C T 1 0.0836661 0.0035 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified Benign/Likely_benign . . . 0.0060 . intronic . 0.0269013 . . . . . . 0.0009 0.062 0.0049 Name\x3d98.923621 -1 12 25368462 KRAS C T 214 0.997604 1 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign . . . 1 synonymous_SNV exonic . 0.936689 . . . . . . . . 1 Name\x3d99.523630 -1 12 25398162 KRAS A C 1 0.000399361 0.0019 . MedGen:CN169374 not_specified Likely_benign . . . 0.0033 . intronic . 0.0015459 . . . . . . . . 0.0031 Name\x3d98.040179 1 12 32945486 PKP2 G T 6 0.0339457 0.0243 . . . . . . . . . intronic . 0.0054851 . . . . . . . . 0.0283 Name\x3d95.639552 1 12 32945495 PKP2 C T 143 0.450479 0.6576 . . . . . . . . . intronic . 0.115354 . . . . . . . . . Name\x3d96.122638 1 12 32945721 PKP2 G T 143 0.45028 0.6579 . . . . . . . . . intronic . 0.115354 . . . . . . . . 0.6760 Name\x3d98.798832 1 12 32949029 PKP2 A AG 23 0.318291 0.1390 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified Benign/Likely_benign . . . 0.1402 . intronic . 0.0059637 . . . . . . . . 0.1393 Name\x3d97.767636 1 12 32949101 PKP2 G T 2 0.000599042 0.0006 7.211 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0012 nonsynonymous_SNV exonic . 0.000815 T . . . B D . . 0.0006 Name\x3d99.868951 6 12 32949252 PKP2 AC A 23 0.304912 0.1195 . MedGen:CN169374 not_specified Benign . . . 0.1114 . intronic . 0.000304 . . . . . . . . 0.1207 Name\x3d96.915329 1 12 32974245 PKP2 C T 177 0.591653 0.8152 . MedGen:CN169374 not_specified Benign . . . 0.8161 . intronic . 0.702416 . . . . . . . . 0.8183 Name\x3d99.032486 1 12 32974352 PKP2 G A 1 0.000199681 0.0001 7.044 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 0.0001423 D . . . D D . . . Name\x3d99.909625 11 12 32974523 PKP2 C T 2 0.00399361 0.0110 . . . . . . . . . intronic . 0.0019469 . . . . . . . . . Name\x3d99.438194 1 12 32977103 PKP2 G GA 2 0.00219649 0.0054 . MedGen:C1836906,OMIM:609040|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified Benign/Likely_benign . . . 0.0054 . intronic . 0.0001035 . . . . . . . . 0.0044 Name\x3d99.227632 3 12 32994144 PKP2 A G 1 0.000199681 . . MedGen:C1836906,OMIM:609040|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified Conflicting_interpretations_of_pathogenicity . . . 3.682e-05 . intronic . 2.59e-05 . . . . . . 0.0059 0.038 0.0001 Name\x3d99.739357 5 12 32994180 PKP2 G T 1 0.000199681 . . . . . . . . 1.844e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.547518 5 12 33003918 PKP2 A G 1 0.00279553 0.0039 . MedGen:C1836906,OMIM:609040|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified Benign/Likely_benign Name\x3dENSR00000454896|Enhancer . . 0.0035 . intronic . 0.0029042 . . . . . . 0.0002 0.038 0.0030 Name\x3d99.129710 4 12 33021934 PKP2 A G 37 0.151358 0.2195 0.112 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.2072 nonsynonymous_SNV exonic . 0.183161 T . . . B T . . 0.2301 Name\x3d99.695445 2.5 12 33030802 PKP2 T C 1 0.000998403 0.0006 -1.051 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 Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000454924|Enhancer . . 0.0028 nonsynonymous_SNV exonic . 0.0016365 T . . . B T . . 0.0022 Name\x3d99.908348 5.5 12 33031309 PKP2 T C 1 0.000199681 0.0012 0.338 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . Name\x3dMIMAT0000279|hsa-miR-222-3p|Experimental 0.0014 nonsynonymous_SNV exonic . 0.0010996 T . . . B T . . 0.0019 Name\x3d99.865158 5.5 12 33031799 PKP2 A G 1 0.00179712 0.0072 . . . . . . . . . intronic . 0.0009767 . . . . . . . . . Name\x3d99.016007 3 12 33049590 PKP2 C T 2 0.00299521 0.0081 6.871 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign Name\x3dENSR00000050745|Promoter . . 0.0230 nonsynonymous_SNV exonic . 0.0058925 D . Name\x3dOREG1177020|N/A|TFAP2C|PAZAR,OREG1497724|N/A|EGR1|PAZAR . D D . . 0.0068 Name\x3d99.954482 9 12 98909876 TMPO C T 1 0.000199681 . . . . . Name\x3dENSR00000056128|Promoter . . 4.381e-05 synonymous_SNV exonic . 3.23e-05 . . Name\x3dOREG1251609|N/A|SMARCA4|PAZAR,OREG1169900|N/A|TFAP2C|PAZAR,OREG1490154|N/A|EGR1|PAZAR,OREG1221463|N/A|SMARCA4|PAZAR,OREG1792011|N/A|RBL2|PAZAR . . . . . . Name\x3d98.774619 7 12 98925650 TMPO G T 110 0.530351 0.5641 . . . . . . . 0.5553 . intronic . 0.526552 . . . . . . . . 0.5688 . 0 12 98926985 TMPO C G 1 0.0299521 0.0014 3.863 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2674574,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0015 nonsynonymous_SNV exonic . 0.010168 T . Name\x3dOREG1251610|N/A|SMARCA4|PAZAR . B D . . 0.0017 Name\x3d99.262299 2 12 98927147 TMPO C G 1 0.000199681 . 5.570 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d99.367424 8 12 98927278 TMPO T G 1 0.000199681 . 0.194 . . . . . . 9.209e-05 nonsynonymous_SNV exonic . 5.17e-05 T . . . B D . . 0.0001 Name\x3d98.925601 5 12 98927830 TMPO C G 29 0.0589058 0.0945 1.914 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000972255|Enhancer . . 0.0983 nonsynonymous_SNV exonic . 0.0845397 T . Name\x3dOREG1734232|N/A|HNF4A|PAZAR,OREG1709425|N/A|HNF4A|PAZAR . P T . . 0.0965 Name\x3d99.334910 6.5 12 98938894 TMPO T C 1 0.000199681 7.183e-05 . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 4 12 98938907 TMPO G T 99 0.444089 0.0115 . . . . . . . . . intronic . 0.0879822 . . . . . . . . . . 0 12 98938911 TMPO T TG 4 0.0425319 0.0142 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 12 98940228 TMPO A AT 23 0.086262 0.0844 . MedGen:CN169374 not_specified Benign . . . 0.0731 . intronic . 0.0024838 . . . . . . . . 0.0840 Name\x3d99.262833 1 12 98940250 TMPO A G 1 0.000199681 . . . . . . . . 0.0001 . intronic . 0.0001746 . . . . . . . . 0.0001 . 4 12 98940289 TMPO T A 3 0.00199681 0.0039 . . . . . . . . . intronic . 0.0007115 . . . . . . . . . . 6 12 98941637 TMPO A G 2 0.00279553 0.0040 . MedGen:CN169374 not_specified Likely_benign . . . 0.0053 . UTR3 . 0.0037322 . . . . . . . . 0.0059 Name\x3d99.244344 3 12 111350807 MYL2 G A 3 0.00439297 0.0175 . . . . . . . . . intronic . 0.0023868 . . . . . . . . . . 0 12 111350999 MYL2 G A,T 3 0.00439297 0.0176 . . . . . . . 0.0140 . intronic . 0.0109701 . . . . . . . . . Name\x3d98.757976 1 12 111351002 MYL2 CA C 1 0.0449281 0.0002 . . . . . . . 0.0003 . intronic . 0.0002781 . . . . . . . . 0.0005 Name\x3d98.532868 1 12 111351003 MYL2 A AG 11 0.10024 0.0725 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN517202 Primary_familial_hypertrophic_cardiomyopathy|not_specified|not_provided Benign . . . 0.0710 . intronic . 0.0071668 . . . . . . . . 0.0664 Name\x3d98.532868 1 12 111351029 MYL2 TC T 57 0.252596 0.3080 . MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_10|not_specified|not_provided Benign . . . 0.2951 . intronic . 0.0086157 . . . . . . . . 0.3138 Name\x3d98.955156 1 12 111351186 MYL2 C T 11 0.102636 0.0723 . MedGen:CN517202 not_provided not_provided . . . . . intronic . 0.015058 . . . . . . . . 0.0644 Name\x3d97.151560 1 12 111351204 MYL2 T G 3 0.00439297 0.0175 . . . . . . . . . intronic . 0.0023609 . . . . . . . . . Name\x3d97.665065 1 12 111351932 MYL2 C A 3 0.00439297 0.0176 . . . . . . . . . intronic . 0.0107192 . . . . . . . . . . 0 12 111351937 MYL2 C T 11 0.0982428 0.0726 . . . . . . . . . intronic . 0.0753419 . . . . . . . . . . 0 12 111351973 MYL2 C CAG 3 0.00539137 0.0176 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1834460,OMIM:608758 Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10 Benign . . . 0.0139 . intronic . 0.0002652 . . . . . . . . 0.0134 Name\x3d95.730780 1 12 111353556 MYL2 A G 15 0.115216 0.0900 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0854 synonymous_SNV exonic . 0.099643 . . . . . . . . 0.0801 Name\x3d99.934138 1 12 111357074 MYL2 T A 15 0.166134 0.0901 . . . . Name\x3dENSR00000469763|Promoter . . . . intronic . 0.0203296 . . . . . . . . . Name\x3d97.406044 2 12 111358234 MYL2 G A 3 0.0207668 0.0140 . . . . Name\x3dENSR00000469763|Promoter . . . . intronic . 0.0022251 . . . . . . . . 0.0116 Name\x3d98.765627 2 12 111358252 MYL2 C G 2 0.00119808 0.0019 . . . . Name\x3dENSR00000469763|Promoter . . . . intronic . 0.0003558 . . . . . . . . . Name\x3d98.370126 4 12 111358266 MYL2 C T 3 0.0155751 0.0143 . . . . Name\x3dENSR00000469763|Promoter . . . . intronic . 0.0025291 . . . . . . . . 0.0116 Name\x3d98.842829 2 12 111358423 MYL2 A G 1 0.000199681 . . . . . . . . . . upstream . 3.84e-05 . . . . . . . . . Name\x3d99.815549 5 12 112856954 PTPN11 G C 2 0.0632987 0.0177 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign Name\x3dENSR00000057523|Promoter . . 0.0099 . intronic . 0.0070956 . . Name\x3dOREG1487050|N/A|EGR1|PAZAR,OREG1167254|N/A|TFAP2C|PAZAR,OREG1249163|N/A|SMARCA4|PAZAR,OREG1219070|N/A|SMARCA4|PAZAR,OREG1876458|N/A|STAT1|PAZAR . . . . . . Name\x3d99.618165 2 12 112856983 PTPN11 C A 2 0.0453275 0.0176 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006 Noonan_syndrome Benign Name\x3dENSR00000057523|Promoter . . . . intronic . 0.0217458 . . Name\x3dOREG1487050|N/A|EGR1|PAZAR,OREG1876458|N/A|STAT1|PAZAR,OREG1219070|N/A|SMARCA4|PAZAR,OREG1249163|N/A|SMARCA4|PAZAR,OREG1167254|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.767916 2 12 112888140 PTPN11 C T 1 0.000199681 . . . . . . . . 1.84e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.767811 3 12 112891203 PTPN11 G C 2 0.00599042 0.0146 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Noonan_syndrome|Rasopathy|not_specified|not_provided Benign . . . 0.0149 . intronic . 0.0102263 . . . . . . . . 0.0127 Name\x3d98.361145 -1 12 112893675 PTPN11 GTTT GTT 104 . . . . . . . . . . . intronic . . . . . . . . . . . Name\x3d97.537355 13 12 112910723 PTPN11 A G 1 0.000199681 0.0008 . . . . . . . 0.0006 . intronic . 0.0003105 . . . . . . . . 0.0006 Name\x3d98.735471 1 12 112915434 PTPN11 C T 11 0.0365415 0.0800 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign . . . 0.0785 . intronic . 0.0604003 . . . . . . . . 0.0741 Name\x3d96.940777 1 12 112919869 PTPN11 C A 1 0.0429313 0.0162 . 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 Noonan_syndrome|Noonan_syndrome_with_multiple_lentigines|Metachondromatosis|Rasopathy|not_specified Benign/Likely_benign . . . 0.0104 . intronic . 0.0195793 . . . . . . 0.0068 0.106 0.0107 Name\x3d99.002032 0 12 114793297 TBX5 T C 3 0.0806709 0.0046 . MedGen:C0265264,OMIM:142900,SNOMED_CT:19092004|MedGen:CN169374 Holt-Oram_syndrome|not_specified Benign . . . 0.0051 . UTR3 . 0.0318042 . . . . . . . . 0.0028 Name\x3d98.156487 -1 12 114803927 TBX5 A G 1 0.000798722 . -0.076 . . . . . . . . intronic . 0.0001035 T . . . B D . . . Name\x3d99.566178 1 12 114803954 TBX5 G A 1 0.00239617 0.0094 -0.054 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Likely_benign . . . 0.0076 . intronic . 0.0056791 T . . . D T . . 0.0097 Name\x3d99.353174 1 12 114832510 TBX5 C A 129 0.528754 0.6126 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.6266 . intronic . 0.592625 . . . . . . . . 0.6307 Name\x3d98.128885 -1 12 114841589 TBX5 G A 2 0.000798722 . 5.798 . . . Name\x3dENSR00000470627|Promoter . . 3.762e-05 nonsynonymous_SNV exonic . 8.41e-05 D . Name\x3dOREG1820206|N/A|RBL2|PAZAR . P D . . . Name\x3d99.930310 6 14 23851325 MYH6 G A 1 0.0485224 0.0041 . . . . . . . . . intronic . 0.0029948 . . . . . . . . 0.0041 . 0 14 23851400 MYH6 C T 30 0.122005 0.1157 . . . . . . . . . intronic . 0.0221731 . . . . . . . . . . 1 14 23852497 MYH6 T C 1 0.0848642 0.0044 . 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 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0033 synonymous_SNV exonic . 0.0258276 . . . . . . . . 0.0069 Name\x3d99.883800 1 14 23852537 MYH6 T G 19 0.240415 0.0265 . . . . . . . 0.0115 . intronic . 0.0078071 . . . . . . . 0.014 . Name\x3d97.511401 1 14 23852541 MYH6 A G 19 0.241214 0.0253 . . . . . . . 0.0091 . intronic . 0.0078265 . . . . . . 0.0001 0.002 . . 0 14 23852545 MYH6 T G 18 0.240016 0.0224 . . . . . . . 0.0970 . intronic . 0.0077877 . . . . . . . . . . 0 14 23852548 MYH6 G A 3 0.0523163 . . . . . . . . 0.0006 . intronic . 0.0016947 . . . . . . . . . . 0 14 23852550 MYH6 G A 9 0.141573 0.0001 . . . . . . . 0.0082 . intronic . 0.0045989 . . . . . . . . . . 0 14 23853629 MYH6 T C 75 0.229633 0.2396 . MedGen:CN169374 not_specified Benign . . . 0.2694 . intronic . 0.2499 . . . . . . . . 0.2644 . 0 14 23853739 MYH6 C T 1 0.000399361 0.0002 1.468 . . . . . . 0.0003 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d99.906427 6.5 14 23853740 MYH6 C T 1 0.000399361 0.0002 0.952 . . . . . . 0.0003 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d99.906427 6.5 14 23854155 MYH6 G A 29 0.0363419 0.1116 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.1045 synonymous_SNV exonic . 0.0772823 . . . . . . . . 0.1158 Name\x3d99.826898 2 14 23854272 MYH6 T C 19 0.072484 0.0785 . MedGen:CN169374 not_specified Benign . . . 0.0898 . intronic . 0.0795915 . . . . . . . . 0.0844 . 1 14 23854324 MYH6 A G 124 0.488019 0.4519 . . . . . . . . . intronic . 0.0920234 . . . . . . . . . Name\x3d97.203124 1 14 23855320 MYH6 G A 29 0.0365415 0.1116 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.1047 synonymous_SNV exonic . 0.0777868 . . . . . . . . 0.1159 Name\x3d99.760304 2 14 23855357 MYH6 T A 1 0.0489217 0.0042 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0031 . intronic . 0.0153426 . . . . . . . . 0.0059 . 0 14 23855478 MYH6 C G 29 0.0365415 0.1114 . MedGen:CN169374 not_specified Benign . . . 0.1038 . intronic . 0.0767778 . . . . . . . . 0.1149 . 1 14 23855511 MYH6 C T 3 0.00539137 0.0130 . 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 Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0144 . intronic . 0.00967 . . . . . . . . 0.0109 Name\x3d96.810167 1 14 23855569 MYH6 A G 124 0.492812 0.4530 . 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 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.4844 synonymous_SNV exonic . 0.433811 . . . . . . . . 0.4855 Name\x3d99.731303 1 14 23855645 MYH6 A G 1 0.048722 0.0044 1.714 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 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0030 nonsynonymous_SNV exonic . 0.0029495 T . . . B T . . 0.0019 Name\x3d99.874320 2.5 14 23855705 MYH6 T A 1 0.0491214 0.0041 1.421 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 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0030 nonsynonymous_SNV exonic . 0.0029172 T . . . B T . . 0.0034 Name\x3d99.694755 2.5 14 23855711 MYH6 T C 1 0.000599042 0.0001 4.594 MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_14|not_specified|not_provided Uncertain_significance . . . 3.68e-05 nonsynonymous_SNV exonic . 9.06e-05 D . . . D D . . 0.0001 Name\x3d99.896955 6 14 23855849 MYH6 C T 74 0.235224 0.2390 . MedGen:CN169374 not_specified Benign . . . 0.2698 . intronic . 0.247021 . . . . . . . . 0.2634 Name\x3d96.350017 1 14 23856714 MYH6 G A 14 0.019369 0.0334 . . . . . . . 0.0413 . intronic . 0.0303489 . . . . . . . . 0.0417 . 0 14 23856861 MYH6 C T 1 0.0325479 0.0043 . 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 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0032 synonymous_SNV exonic . 0.0112806 . . . . . . 0.0269 0.166 0.0057 Name\x3d99.643398 1 14 23856896 MYH6 A G 96 0.471645 0.5002 . MedGen:CN169374 not_specified Benign . . . 0.4970 . intronic . 0.490039 . . . . . . . . 0.4965 . 0 14 23857100 MYH6 C T 1 0.000199681 . . . . . . . . 3.682e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d99.848252 5 14 23857351 MYH6 G A 95 0.419728 0.3462 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.3588 . intronic . 0.346321 . . . . . . . . 0.3660 Name\x3d96.733952 1 14 23858008 MYH6 C T 1 0.000998403 0.0029 . . . . . . . . . intronic . 0.0003105 . . . . . . . . . Name\x3d99.045804 3 14 23858232 MYH6 C T 30 0.0347444 0.1168 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.1078 synonymous_SNV exonic . 0.0789964 . . . . . . . . 0.1172 Name\x3d99.902271 2 14 23858275 MYH6 G C 1 0.0279553 0.0077 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0070 . intronic . 0.011203 . . . . . . 0.0002 0.026 . Name\x3d98.665719 1 14 23858697 MYH6 C G 3 0.00419329 0.0026 6.301 MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0024 nonsynonymous_SNV exonic . 0.003247 D . . . D D . . 0.0044 Name\x3d99.898914 13 14 23859551 MYH6 G C 1 0.000199681 . 5.232 MedGen:CN169374 not_specified Uncertain_significance . . . 0.0003 nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.932802 11 14 23859610 MYH6 C T 35 0.0728834 0.1119 5.149 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.1203 nonsynonymous_SNV exonic . 0.091894 T . . . P T . . . Name\x3d99.917217 1 14 23859714 MYH6 C T 10 0.0992412 0.0678 . . . . . . . . . intronic . 0.0139325 . . . . . . . . . Name\x3d98.029449 1 14 23861811 MYH6 A G 87 0.3748 0.3666 0.873 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.3613 nonsynonymous_SNV exonic rs365990|Resting-heart-rate|0.7840639|4E-10|PMID:28270201 0.334659 T . . . B T . . 0.3737 Name\x3d99.907217 2.5 14 23862710 MYH6 C T 2 0.00419329 0.0147 . 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 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0131 synonymous_SNV exonic . 0.0096506 . . . . . . . . 0.0120 Name\x3d99.934523 1 14 23862783 MYH6 C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 14 23862785 MYH6 A T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 14 23863152 MYH6 A G 4 0.0585064 0.0067 . . . . . . . 0.0115 . intronic . 0.0257435 . . . . . . . . 0.0099 Name\x3d98.127534 1 14 23863247 MYH6 A G 1 0.000199681 . . . . . . . . . . intronic . 1.29e-05 . . . . . . . . . . 4 14 23865885 MYH6 G A 84 0.367812 0.3590 . MedGen:CN169374 not_specified Benign . . . 0.3525 . intronic rs452036|Pulse-pressure|0.27|2E-16|PMID:27618448 0.339006 . . . . . . . . 0.3628 . 0 14 23866146 MYH6 G C 11 0.0325479 0.0099 . . . . . . . 0.0146 . intronic . 0.0213257 . . . . . . . . 0.0124 . 0 14 23866189 MYH6 G A 11 0.0339457 0.0100 . 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 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0148 synonymous_SNV exonic . 0.021785 . . . . . . . . 0.0127 Name\x3d99.914829 1 14 23866713 MYH6 A G 73 0.30651 0.3235 . MedGen:CN169374 not_specified Benign . . . 0.3140 . intronic . 0.291173 . . . . . . . . 0.3187 Name\x3d95.363987 1 14 23866872 MYH6 C G 2 0.000399361 0.0005 . . . . . . . 0.0007 . intronic . 0.000401 . . . . . . . . . . 2 14 23866925 MYH6 G C 3 0.0499201 0.0056 . . . . . . . . . intronic . 0.0038098 . . . . . . . . . . 0 14 23868285 MYH6 G A 64 0.16873 0.2597 . MedGen:CN169374 not_specified Benign . . . 0.2591 . intronic . 0.211808 . . . . . . . . 0.2597 . 0 14 23869665 MYH6 CA C 1 0.00379393 0.0093 . . . . . . . 0.0107 . intronic . 0.0002652 . . . . . . . . 0.0118 Name\x3d96.904842 1 14 23869993 MYH6 G A 26 0.0321486 0.0556 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0688 synonymous_SNV exonic . 0.0529877 . . . . . . . . 0.0620 Name\x3d99.865212 1 14 23871753 MYH6 G A 1 0.000199681 . 4.859 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . P D . . . Name\x3d99.894652 8 14 23871840 MYH6 G T 1 0.00119808 0.0059 . . . . Name\x3dENSR00000492685|Promoter . . 0.0068 . intronic . 0.0046248 . . . . . . . . 0.0060 . 3 14 23871909 MYH6 G A 3 0.0423323 0.0055 . 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 Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000492685|Promoter . . 0.0103 synonymous_SNV exonic . 0.0195728 . . . . . . . . 0.0087 Name\x3d99.812513 2 14 23871999 MYH6 C T 2 0.0311502 0.0008 . 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 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000492685|Promoter . . 0.0006 synonymous_SNV exonic . 0.0091137 . . . . . . . . 0.0007 Name\x3d99.875589 2 14 23872666 MYH6 T C 159 0.784944 0.7590 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000492685|Promoter . . 0.7616 . intronic . 0.0001423 . . . . . . . . 0.7680 Name\x3d98.013707 2 14 23873021 MYH6 C T 9 0.0455272 0.0299 . . . . Name\x3dENSR00000492685|Promoter . . 0.0378 . intronic . 0.0289194 . . . . . . . . 0.0364 Name\x3d98.029508 2 14 23873056 MYH6 A C 1 0.00139776 0.0034 . . . . Name\x3dENSR00000492685|Promoter . . . . intronic . 0.0006339 . . . . . . . . 0.0047 Name\x3d97.253559 4 14 23873092 MYH6 G A 61 0.159145 0.2564 . . . . Name\x3dENSR00000492685|Promoter . . . . intronic . 0.0366425 . . . . . . . . . . 1 14 23873940 MYH6 C T 2 0.00199681 0.0060 3.478 MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000492685|Promoter . . 0.0087 nonsynonymous_SNV exonic . 0.0053686 T . . . B T . . 0.0069 Name\x3d99.923043 5.5 14 23874364 MYH6 G A 1 0.000199681 0.0002 . . . . Name\x3dENSR00000492685|Promoter . . 9.2e-05 . intronic . 4.53e-05 . . . . . . . . 0.0001 . 5 14 23874507 MYH6 G T 27 0.0776757 0.0995 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000492685|Promoter . . 0.1056 synonymous_SNV exonic . 0.0926443 . . . . . . . . 0.1095 Name\x3d99.918043 2 14 23874523 MYH6 C T 61 0.154353 0.2605 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000492685|Promoter . . 0.2609 synonymous_SNV exonic . 0.209881 . . . . . . . . 0.2608 Name\x3d99.885635 2 14 23874541 MYH6 C T 9 0.0571086 0.0858 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000492685|Promoter . . 0.0805 synonymous_SNV exonic . 0.0691712 . . . . . . . . 0.0884 Name\x3d99.927291 2 14 23874851 MYH6 C T 1 0.00139776 0.0072 . 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 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000492685|Promoter . . 0.0052 synonymous_SNV exonic . 0.003661 . . . . . . . . 0.0051 Name\x3d99.900130 4 14 23876216 MYH6 G A 9 0.0497204 0.0301 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000492685|Promoter . . 0.0289 . intronic . 0.0310992 . . . . . . . . 0.0364 . 1 14 23876267 MYH6 C T 9 0.0567093 0.0854 5.156 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 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign Name\x3dENSR00000492685|Promoter . . 0.0805 nonsynonymous_SNV exonic . 0.0673342 T . . . D D . . 0.0883 Name\x3d99.738408 5 14 23876347 MYH6 C T 1 0.00419329 0.0003 3.306 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|MedGen:CN517202 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000492685|Promoter . . 0.0003 nonsynonymous_SNV exonic . 0.0014165 T . . . P T . . 0.0002 Name\x3d99.869857 5.5 14 23881950 MYH7 C T 19 0.0636981 0.0759 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . . . UTR3 . 0.0138226 . . . . . . . . . Name\x3d99.771126 1 14 23882043 MYH7 C T 1 0.00139776 0.0073 . 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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0080 . UTR3 . 0.0053492 . . . . . . . . 0.0066 Name\x3d98.786623 3 14 23882144 MYH7 T C 81 0.384385 0.3720 . . . . . . . . . intronic . 0.0711246 . . . . . . . . 0.3705 Name\x3d96.876321 1 14 23882186 MYH7 T G 72 0.351038 0.3639 . . . . . . . . . intronic . 0.066351 . . . . . . . . . Name\x3d96.461272 1 14 23883184 MYH7 C T 34 0.134984 0.1652 . MedGen:CN169374 not_specified Benign . . . 0.1566 . intronic . 0.133963 . . . . . . . . 0.1524 Name\x3d96.414736 1 14 23883374 MYH7 C T 1 0.00479233 0.0005 . . . . . . . . . intronic . 0.0002458 . . . . . . . . . . 2 14 23883404 MYH7 C G 19 0.0617013 0.0751 . . . . . . . . . intronic . 0.0134604 . . . . . . . . . . 0 14 23884137 MYH7 T A 19 0.116813 0.1213 . . . . . . . . . intronic . 0.0227423 . . . . . . . . . . 0 14 23884174 MYH7 G T 1 0.000199681 0.0002 . . . . . . . 0.0002 . intronic . 7.76e-05 . . . . . . . . 0.0001 . 4 14 23884524 MYH7 C A 9 0.0309505 0.0074 . MedGen:CN169374 not_specified Benign . . . 0.0113 . intronic . 0.0195664 . . . . . . . . 0.0098 Name\x3d98.581077 1 14 23884889 MYH7 C T 19 0.117612 0.1214 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.1148 synonymous_SNV exonic . 0.10853 . . . . . . . . 0.1317 Name\x3d99.956978 1 14 23884981 MYH7 C T 1 0.000199681 . 4.429 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . B D . . . Name\x3d99.961127 8 14 23886010 MHRT G T 1 0.000199681 0.0003 . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 2 14 23886155 MYH7 A G 3 0.0111821 0.0139 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0078 synonymous_SNV exonic . 0.0119339 . . . . . . . . 0.0067 Name\x3d99.942853 1 14 23886264 MHRT C T 35 0.136981 0.1640 . . . . . . . . . ncRNA_intronic . 0.0289906 . . . . . . . . . Name\x3d96.574244 -1 14 23886409 MYH7 G C 3 0.00519169 0.0112 3.122 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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign . . . 0.0103 nonsynonymous_SNV exonic . 0.008137 T . . . B D . . 0.0115 Name\x3d99.951914 1 14 23886509 MYH7 G C 1 0.000199681 . 4.335 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.940907 8 14 23886597 MHRT C A 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . Name\x3d98.113237 3 14 23887645 MYH7 T C 73 0.351238 0.3611 . MedGen:CN169374 not_specified Benign . . . 0.3636 . intronic . 0.315158 . . . . . . . . 0.3634 Name\x3d99.429998 1 14 23888323 MYH7 T TG 73 0.337061 0.3603 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_familial_hypertrophic_cardiomyopathy Uncertain_significance . . . . . intronic . 0.0472115 . . . . . . . . . Name\x3d95.776626 1 14 23888368 MYH7 C T 1 0.000199681 . . . . . . . . 1.84e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.115275 5 14 23888371 MYH7 G A 2 0.00459265 0.0204 . 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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0161 . intronic . 0.0114811 . . . . . . . . 0.0135 Name\x3d99.287787 1 14 23888665 MYH7 A T 73 0.336661 0.3608 . MedGen:CN169374 not_specified Benign . . . 0.3504 . intronic . 0.314136 . . . . . . . . 0.3628 Name\x3d97.431162 1 14 23888671 MYH7 G A 1 0.00179712 0.0055 . MedGen:CN169374 not_specified Benign . . . 0.0054 . intronic . 0.0039909 . . . . . . . . 0.0043 Name\x3d98.456038 3 14 23889445 MYH7 T TG 11 0.0403355 0.0709 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|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 Benign . . . 0.0002 . splicing . 0.0021151 . . . . . . . . . Name\x3d99.911055 9 14 23890074 MYH7 G A 2 0.000599042 0.0004 . . . . . . . . . intronic . 0.000461 . . . . . . . . . Name\x3d98.334011 3 14 23891481 MYH7 C T 2 0.00319489 0.0090 . 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|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0069 synonymous_SNV exonic . 0.0052522 . . . . . . . . 0.0077 Name\x3d99.944357 3 14 23891496 MYH7 C T 1 0.000199681 . 3.877 MedGen:CN169374 not_specified Uncertain_significance . . . 5.52e-05 nonsynonymous_SNV exonic . 2.59e-05 D . . . D D . . . Name\x3d99.961235 8 14 23892819 MYH7 G A 2 0.00259585 0.0003 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0005 synonymous_SNV exonic . 0.001423 . . . . . . . . . Name\x3d99.935932 3 14 23892879 MYH7 C T 1 0.000199681 . . MedGen:CN169374 not_specified Likely_benign . . . 5.52e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . 0.0001 Name\x3d99.952616 5 14 23892888 MYH7 A G 73 0.376398 0.3260 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.3256 synonymous_SNV exonic . 0.32052 . . Name\x3dOREG0804994|N/A|JUND(var.2)|JASPAR . . . . . 0.3288 Name\x3d99.945404 2 14 23892948 MYH7 C A 1 0.000199681 . . . . . . . . 1.84e-05 . intronic . 1.29e-05 . . Name\x3dOREG1721436|N/A|HNF4A|PAZAR . . . . . . Name\x3d98.890238 6 14 23892950 MYH7 C T 1 0.0507188 0.0007 . MedGen:CN169374 not_specified Benign . . . 0.0006 . intronic . 0.0145664 . . Name\x3dOREG1721436|N/A|HNF4A|PAZAR . . . . . 0.0009 Name\x3d98.890238 2 14 23894051 MYH7 C T 1 0.000199681 . 7.365 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 3.68e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . D D . . . Name\x3d99.956137 11 14 23894291 MYH7 C T 9 0.0301518 0.0073 . . . . . . . . . intronic . 0.0030271 . . . . . . . . . Name\x3d97.785330 1 14 23895083 MYH7 T C 29 0.251997 0.1542 . . . . . . . . . intronic . 0.0230463 . . . . . . . . . Name\x3d97.594066 1 14 23896823 MYH7 A T 1 0.000199681 . 5.665 . . . . . . 1.844e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . P D . . . Name\x3d99.944014 8 14 23897077 MYH7 T C 1 0.0329473 0.0005 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0006 synonymous_SNV exonic . 0.0099223 . . . . . . . . 0.0009 Name\x3d99.953995 1 14 23897156 MYH7 G A 3 0.00119808 0.0032 . . . . . . . . . intronic . 0.000414 . . . . . . . . . Name\x3d98.087525 7 14 23898105 MYH7 C A 1 0.000199681 0.0001 . . . . . . . . . intronic . 0.0002305 . . . . . . . . . . 4 14 23898122 MYH7 G C 2 0.000599042 0.0002 . . . . . . . 0.0007 . intronic . 0.0007827 . . . . . . . . 0.0007 Name\x3d95.095864 3 14 23898504 MYH7 C T 1 0.000199681 6.488e-05 . 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:C3495498,OMIM:192600|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0002 synonymous_SNV exonic . 0.0001617 . . . . . . . . 0.0001 Name\x3d99.944366 5 14 23898994 MYH7 G A 9 0.15615 0.0788 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0777 synonymous_SNV exonic . 0.0943131 . . . . . . . . 0.0867 Name\x3d99.861634 1 14 23899027 MYH7 C T 35 0.0796725 0.1631 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.1570 synonymous_SNV exonic . 0.118517 . . . . . . . . 0.1513 Name\x3d99.919528 1 14 23899060 MYH7 G A 19 0.0638978 0.0740 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0775 synonymous_SNV exonic . 0.0701091 . . . . . . . . 0.0795 Name\x3d99.937441 1 14 23899725 MYH7 A G 9 0.170527 0.0811 . MedGen:CN169374 not_specified Benign . . . 0.0877 . intronic . 0.097088 . . . . . . . . 0.0886 . 0 14 23899793 MYH7 G A 8 0.0145767 0.0237 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign . . . 0.0291 synonymous_SNV exonic . 0.0210541 . . . . . . . . 0.0290 Name\x3d99.923626 1 14 23900093 MYH7 C T 7 0.0471246 0.0066 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000492689|Promoter . . 0.0096 . intronic . 0.0225288 . . . . . . . . 0.0091 Name\x3d99.498820 3 14 23900794 MYH7 G A 31 0.263778 0.1551 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign Name\x3dENSR00000492689|Promoter . . 0.1598 synonymous_SNV exonic . 0.18208 . . . . . . 0.0008 0.104 0.1680 Name\x3d99.958007 2 14 23901012 MYH7 T C 7 0.00579073 0.0128 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign Name\x3dENSR00000492689|Promoter . . 0.0155 synonymous_SNV exonic . 0.0110477 . . . . . . . . 0.0147 Name\x3d99.929636 2 14 23901581 MYH7 G T 1 0.033147 0.0005 . . . . Name\x3dENSR00000492689|Promoter . . . . intronic . 0.0016623 . . . . . . . . . . 1 14 23901582 MYH7 G C 19 0.061901 0.0740 . . . . Name\x3dENSR00000492689|Promoter . . . . intronic . 0.0017673 . . . . . . . . . . 1 14 23902269 MYH7 C T 1 0.000998403 0.0016 . . . . Name\x3dENSR00000492689|Promoter . . 0.0020 . intronic . 0.0013777 . . . . . . . . 0.0023 . 3 14 23902753 MYH7 G A 103 0.520367 0.4776 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign Name\x3dENSR00000492689|Promoter . . 0.4760 synonymous_SNV exonic . 0.485375 . . . . . . . . 0.4841 Name\x3d99.951153 2 14 23902966 MYH7 C G 1 0.000199681 . . . . . Name\x3dENSR00000492689|Promoter . . 1.862e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.384884 6 14 23902974 MYH7 C A 19 0.0615016 0.0742 . . . . Name\x3dENSR00000492689|Promoter . . 0.0787 . intronic . 0.06595 . . . . . . . . 0.0778 Name\x3d98.614317 2 14 73614748 PSEN1 G A 1 0.000399361 . . MedGen:CN043596|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant Uncertain_significance . . Name\x3dMIMAT0000066|hsa-let-7e-5p|Experimental 9.25e-05 synonymous_SNV exonic . 6.47e-05 . . . . . . . . 0.0001 Name\x3d99.483541 6 14 73637794 PSEN1 G A 1 0.000998403 0.0051 . . . . . . . 0.0042 . intronic . 0.0027684 . . . . . . . . 0.0052 Name\x3d97.323207 3 14 73664718 PSEN1 T C 21 0.0189696 0.0520 . . . . Name\x3dENSR00000501807|Enhancer . . 0.0727 . intronic . 0.0361444 . . . . . . . . 0.0523 Name\x3d97.422357 2 14 73664853 PSEN1 G T 124 0.671526 0.5402 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000501807|Enhancer . . 0.5715 . intronic . 0.58791 . . . . . . . . 0.5613 Name\x3d98.910676 2 14 73673178 PSEN1 A G 3 0.00559105 0.0228 2.110 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 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 Benign/Likely_benign . . . 0.0203 nonsynonymous_SNV exonic . 0.0145406 D . . . B T 0.0688 0.186 0.0187 Name\x3d98.705170 1 14 76425507 TGFB3 C G 1 0.000199681 . . . . . Name\x3dENSR00000987039|Enhancer . . 1.84e-05 . UTR3 . 1.29e-05 . . . . . . . . . Name\x3d98.361607 6 14 76429868 TGFB3 A G 25 0.146166 0.0674 . . . . Name\x3dENSR00000987041|Enhancer . . 0.0774 . intronic . 0.0936146 . . . . . . . . 0.0766 . 1 14 76432117 TGFB3 GC G 25 0.123203 0.0629 . . . . . . . . . intronic . 0.0127171 . . . . . . . . . Name\x3d95.988896 1 14 76446886 TGFB3 G A 1 0.000199681 6.481e-05 . MedGen:C3553762,OMIM:614816|MedGen:CN169374|MedGen:CN230736 Loeys-Dietz_syndrome_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000071002|Promoter . . 0.0002 synonymous_SNV exonic . 0.0001035 . . . . . . 0.0238 0.124 0.0001 Name\x3d99.495395 6 14 90863452 CALM1 G T 2 0.00519169 0.0021 . . . . Name\x3dENSR00000071950|Promoter . . . . UTR5 . 0.0032273 . . Name\x3dOREG1168103|N/A|TFAP2C|PAZAR,OREG1488045|N/A|EGR1|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1542714|N/A|ETS1|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1249922|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.928977 3 14 90863488 CALM1 C CA 2 0.000998403 0.0010 . . . . Name\x3dENSR00000071950|Promoter . . . . UTR5 . 0.0003458 . . Name\x3dOREG1542714|N/A|ETS1|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1168103|N/A|TFAP2C|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1488045|N/A|EGR1|PAZAR,OREG1249922|N/A|SMARCA4|PAZAR . . . . . 0.0186 Name\x3d97.594244 1 14 90863489 CALM1 G A,GCA 2 0.000998403 0.0008 . . . . Name\x3dENSR00000071950|Promoter . . . . UTR5 . 0.0003458 . . Name\x3dOREG1249922|N/A|SMARCA4|PAZAR,OREG1542714|N/A|ETS1|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1168103|N/A|TFAP2C|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1488045|N/A|EGR1|PAZAR . . . . . . Name\x3d97.594244 3 14 90866346 CALM1 C T 121 0.484425 0.6183 . . . . Name\x3dENSR00000071950|Promoter . . . . intronic . 0.117618 . . Name\x3dOREG1249922|N/A|SMARCA4|PAZAR . . . . . 0.6245 . 0 14 90866350 CALM1 T C 1 0.000199681 0.0004 . . . . Name\x3dENSR00000071950|Promoter . . . . intronic . 1.29e-05 . . Name\x3dOREG1249922|N/A|SMARCA4|PAZAR . . . . . 0.0003 . 4 14 90870167 CALM1 G A 2 0.000798722 0.0033 . . . . . . . 0.0037 . intronic . 0.0023868 . . . . . . . . 0.0043 . 0 14 90870689 CALM1 A G 1 0.000199681 . . . . . . . . 1.877e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 14 90870740 CALM1 C T 1 0.000199681 0.0008 . MedGen:C3554047,OMIM:614916|MedGen:C4015671,OMIM:616247|MedGen:CN169374|MedGen:CN230736 Ventricular_tachycardia,_catecholaminergic_polymorphic,_4|Long_QT_syndrome_14|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0019 synonymous_SNV exonic . 0.0009638 . . . . . . . . 0.0009 Name\x3d98.773995 1 14 90870909 CALM1 T G 3 0.00159744 0.0058 . . . . . . . 0.0067 . intronic . 0.0039327 . . . . . . . . 0.0052 . 4 15 35083378 ACTC1 A G 2 0.0285543 0.0037 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C2677506,OMIM:612098|MedGen:C2748552,OMIM:612794|MedGen:C3150681,OMIM:613424|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_11|Atrial_septal_defect_5|Dilated_cardiomyopathy_1R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0036 synonymous_SNV exonic . 0.0097088 . . . . . . . . 0.0042 Name\x3d98.720799 1 15 35083508 LOC101928174 TCACA T 65 0.244808 0.1316 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|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:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . . . ncRNA_intronic . 0.0006404 . . . . . . . . . . -2 15 35084543 LOC101928174 A C 1 0.000199681 . . . . . Name\x3dENSR00000074836|Promoter . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 3 15 35084562 LOC101928174 G A 1 0.000199681 6.482e-05 . . . . Name\x3dENSR00000074836|Promoter . . 7.361e-05 . ncRNA_intronic . 4.53e-05 . . . . . . . . 0.0001 . 3 15 48703130 FBN1 T C 1 0.019369 0.0023 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection Likely_benign . . Name\x3dMIMAT0000086|hsa-miR-29a-3p|Experimental,MIMAT0000100|hsa-miR-29b-3p|Experimental,MIMAT0000681|hsa-miR-29c-3p|Experimental . . UTR3 . 0.001326 . . . . . . . . . Name\x3d99.538168 0 15 48703579 FBN1 G A 1 0.000199681 . . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Likely_benign . . . 3.681e-05 . intronic . 4.53e-05 . . . . . . 0.0004 0.046 0.0001 Name\x3d99.589402 3 15 48712876 FBN1 T G 2 0.0491214 0.0080 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Benign . . . 0.0103 . intronic . 0.0254719 . . . . . . . . 0.0099 Name\x3d99.084991 -1 15 48713959 FBN1 A T 1 0.0253594 0.0025 . . . . Name\x3dENSR00000515046|Enhancer . . . . intronic . 0.0015977 . . . . . . . . . Name\x3d97.310398 0 15 48718045 FBN1 C T 1 0.000199681 . . . . . . . . 1.843e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.790785 3 15 48718098 FBN1 T C 1 0.000399361 . . . . . . . . 0.0001 . intronic . 9.7e-05 . . . . . . . . 0.0001 Name\x3d97.968503 3 15 48718120 FBN1 T C 1 0.000399361 . . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d97.972348 3 15 48719701 FBN1 G T 2 0.0489217 0.0080 . . . . . . . . . intronic . 0.0042496 . . . . . . . . . . -2 15 48720526 FBN1 G C 169 0.65595 0.7602 . MedGen:CN169374 not_specified Benign . . . 0.7638 . intronic . 0.731129 . . . . . . . . 0.7771 Name\x3d97.687960 -1 15 48720652 FBN1 C T 2 0.0509185 0.0135 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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 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 Benign . . . 0.0146 synonymous_SNV exonic . 0.0285443 . . . . . . . . 0.0172 Name\x3d99.778812 -1 15 48722884 FBN1 A G 2 0.0511182 0.0135 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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 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 Benign . . . 0.0146 synonymous_SNV exonic . 0.0285507 . . . . . . . . 0.0172 Name\x3d99.680571 -1 15 48722887 FBN1 A G 1 0.000199681 6.482e-05 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 5.523e-05 synonymous_SNV exonic . 6.47e-05 . . . . . . . . 0.0002 Name\x3d99.680571 3 15 48725121 FBN1 T G 2 0.000798722 0.0010 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.0013 synonymous_SNV exonic . 0.0010543 . . . . . . . . 0.0014 Name\x3d99.765798 1 15 48725206 FBN1 T A 2 0.0507188 0.0135 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0146 . intronic . 0.0285313 . . . . . . . . 0.0172 Name\x3d98.551345 -1 15 48726805 FBN1 A C 1 0.000199681 . 4.877 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D T . . . Name\x3d99.793973 3 15 48729619 FBN1 T G 1 0.000199681 . . . . . . . . . . intronic . 1.29e-05 . . . . . . . . . Name\x3d96.683528 3 15 48729648 FBN1 T C 200 0.930112 0.8595 . . . . . . . . . intronic . 0.173478 . . . . . . . . 0.8866 Name\x3d95.276548 -1 15 48729950 FBN1 A G 1 0.000199681 . . . . . . . . 1.862e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d97.050638 3 15 48736684 FBN1 A T 168 0.620807 0.7442 . . . . . . . . . intronic . 0.141279 . . . . . . . . . . -2 15 48739082 FBN1 C A 2 0.0425319 0.0136 . . . . . . . . . intronic . 0.0047283 . . . . . . . . . Name\x3d95.058891 -1 15 48740907 FBN1 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d97.439025 3 15 48740936 FBN1 G GA 2 0.0425319 0.0136 . MedGen:CN169374 not_specified Benign . . . 0.0157 . intronic . 0.0008085 . . . . . . . . 0.0177 . -2 15 48744726 FBN1 G A 1 0.000599042 0.0003 . . . . Name\x3dENSR00000515051|Enhancer . . 0.0008 . intronic . 0.0006209 . . . . . . . . 0.0003 Name\x3d97.107235 2 15 48744908 FBN1 AAGG A 2 0.0405351 0.0082 . . . . Name\x3dENSR00000515051|Enhancer . . 0.0104 . intronic . 0.0007762 . . . . . . . . 0.0102 Name\x3d98.568935,98.510825 0 15 48748913 FBN1 C T 2 0.00259585 0.0093 . MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0068 synonymous_SNV exonic . 0.0051875 . . . . . . . . 0.0086 Name\x3d99.778744 1 15 48755434 FBN1 A C 1 0.000199681 . 4.356 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B D . . . Name\x3d99.763430 6 15 48755450 FBN1 T TA 2 0.0477236 0.0084 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Benign . . . 0.0104 . intronic . 0.0008538 . . . . . . . . 0.0103 Name\x3d97.977445 -1 15 48755472 FBN1 G A 28 0.0467252 0.0926 . MedGen:CN169374 not_specified Benign . . . 0.0927 . intronic . 0.0682074 . . . . . . . . 0.0932 Name\x3d97.955257 0 15 48756163 FBN1 G A 1 0.000199681 . . MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN230736|MedGen:CN517202 Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0002 synonymous_SNV exonic . 0.0001229 . . . . . . . . 0.0001 Name\x3d99.650673 3 15 48756199 FBN1 A G 1 0.000199681 . . . . . . . . 5.554e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d99.705529 3 15 48758132 FBN1 A C 36 0.207268 0.1505 . . . . . . . . . intronic . 0.030323 . . . . . . . . . . -1 15 48760067 FBN1 G A 2 0.047524 0.0082 . . . . . . . . . intronic . 0.0042367 . . . . . . . . . Name\x3d96.051856 -1 15 48760087 FBN1 G C 1 0.000199681 . . . . . . . . 1.842e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.605088 3 15 48760750 FBN1 T C 2 0.0405351 0.0082 . MedGen:CN169374 not_specified Benign . . . 0.0104 . intronic . 0.0233826 . . Name\x3dOREG1754562|N/A|IGF1R|PAZAR,OREG1755146|N/A|IGF1R|PAZAR . . . . . 0.0101 Name\x3d98.100079 0 15 48760805 FBN1 C T 1 0.000199681 0.0037 . . . . . . . . . intronic . 0.0003428 . . . . . . . . . Name\x3d95.378979 1 15 48763008 FBN1 A T 15 0.0682907 0.1406 . . . . . . . . . intronic . 0.0169144 . . . . . . . . . . -2 15 48764709 FBN1 A T 1 0.000199681 . . . . . . . . 1.84e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.753779 3 15 48764942 FBN1 A G 2 0.110024 0.0194 . . . . . . . . . intronic rs16960981|Skin-reflectance-(Melanin-index)|0.506585|2E-7|PMID:30895295 0.0099999 . . . . . . . . . . -2 15 48766737 FBN1 T C 1 0.000199681 . 0.242 MedGen:CN230736 Cardiovascular_phenotype Uncertain_significance . . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1416737|N/A|E2F1|PAZAR,OREG1274672|N/A|SMARCA4|PAZAR . B T . . 0.0001 Name\x3d99.724406 5.5 15 48779200 FBN1 AATAAC A 47 0.301318 0.2470 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 15 48779231 FBN1 GTAAAA ATAAAA,G 47 0.196685 0.1535 . MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374 Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Benign/Likely_benign . . . 0.1299 . intronic . 0.0082017 . . . . . . . . 0.1656 . -2 15 48779402 FBN1 C T 16 0.196486 0.1556 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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 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 Benign . . . 0.1510 . intronic . 0.166641 . . . . . . . . 0.1390 Name\x3d98.442579 -1 15 48779550 FBN1 G A 1 0.000399361 6.48e-05 7.283 Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0014 nonsynonymous_SNV exonic . 0.0006274 D . . . D D . . 0.0015 Name\x3d99.597762 7 15 48779604 FBN1 A T 1 0.000199681 . 5.592 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.638421 9 15 48779649 FBN1 T C 1 0.000399361 . . . . . . . . . . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.792642 3 15 48780504 FBN1 TTAAAGA T 28 0.048722 0.0909 . . . . . . . . . intronic . 0.0137544 . . . . . . . . . Name\x3d96.629521 -1 15 48780551 FBN1 G C 1 0.000199681 . . . . . . . . 5.52e-05 . intronic . 3.23e-05 . . . . . . . . . Name\x3d98.750919 3 15 48782072 FBN1 T C 3 0.000599042 0.0006 2.075 MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0006 nonsynonymous_SNV exonic . 0.0004722 T . . . B D . . 0.0003 Name\x3d99.682927 5 15 48782151 FBN1 G A 1 0.000199681 6.485e-05 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection Likely_benign . . . 3.68e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . 0.0001 Name\x3d99.638291 3 15 48787360 FBN1 G A 1 0.000199681 0.0001 . . . . . . . 5.538e-05 synonymous_SNV exonic . 5.17e-05 . . . . . . . . . Name\x3d99.718617 3 15 48787523 FBN1 T C 1 0.00299521 0.0001 . . . . . . . . . intronic . 0.0005763 . . . . . . . . . Name\x3d95.606575 1 15 48787842 FBN1 TA T 2 0.0197684 0.0023 . MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006 Marfan_syndrome Uncertain_significance . . . . . intronic . 0.0009605 . . . . . . . . . Name\x3d97.169305 -1 15 48788436 FBN1 G C 1 0.000199681 . . . . . . . . 1.842e-05 . intronic . 7.76e-05 . . . . . . . . . Name\x3d98.104239 3 15 48789634 FBN1 T C 49 0.378594 0.2528 . MedGen:CN169374 not_specified Benign . . . 0.2643 . intronic . 0.276128 . . . . . . . . 0.2427 Name\x3d97.045016 -1 15 48797146 FBN1 C T 6 0.0756789 0.0568 . . . . . . . . . intronic . 0.0100257 . . . . . . . . . . -1 15 48797158 FBN1 T C 1 0.000199681 . . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d95.144336 3 15 48797192 FBN1 C T 2 0.0221645 0.0023 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0025 . intronic . 0.0071733 . . . . . . . . 0.0026 . -2 15 48797307 FBN1 A G 18 0.296925 0.1581 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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|MedGen:CN517202 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|not_provided Benign . . . 0.1539 synonymous_SNV exonic . 0.195398 . . . . . . . . 0.1420 Name\x3d99.739965 -1 15 48807637 FBN1 C T 214 1 1 . MedGen:CN169374 not_specified Benign . . Name\x3dMIMAT0000092|hsa-miR-92a-3p|Experimental 1 nonsynonymous_SNV exonic . 0.938235 . . . . . . . . . Name\x3d99.659792 1.5 15 48818303 FBN1 C A 1 0.000199681 0.0003 . . . . . . . 0.0001 . intronic . 0.0001229 . . . . . . . . 0.0002 . 2 15 48826356 FBN1 A G 1 0.000599042 0.0012 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.0013 synonymous_SNV exonic . 0.0008538 . . . . . . . . 0.0008 Name\x3d99.718571 1 15 48826428 FBN1 A G 1 0.00579073 . . . . . . . . . . intronic . 0.0088032 . . . . . . . . . Name\x3d99.078443 1 15 48888508 FBN1 G A 1 0.000399361 0.0025 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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|MedGen:CN517202 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|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 synonymous_SNV exonic . 0.0006404 . . Name\x3dOREG1274680|N/A|SMARCA4|PAZAR . . . . . 0.0012 Name\x3d99.698052 2 15 48888610 FBN1 T C 11 0.0151757 0.0194 . . . . . . . 0.0218 . intronic . 0.0164746 . . Name\x3dOREG1274680|N/A|SMARCA4|PAZAR . . . . . 0.0235 Name\x3d98.871569 0 15 48892427 FBN1 T A 1 0.000199681 . 4.225 . . . . . . 3.685e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D D . . . Name\x3d99.646845 6 15 48892504 FBN1 T C 1 0.00439297 0.0089 . . . . . . . . . intronic . 0.0015136 . . . . . . . . . Name\x3d97.646387 1 15 48902965 FBN1 G A 1 0.000798722 0.0038 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0009782|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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|MedGen:CN517202 Ectopia_lentis|Connective_tissue_disorder|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0063 synonymous_SNV exonic . 0.0040232 . . . . . . . . 0.0070 Name\x3d99.720767 1 15 63335907 TPM1 C G 1 0.00419329 0.0001 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000077719|Promoter . . 0.0038 synonymous_SNV exonic . 0.0008215 . . . . . . . . . Name\x3d99.896019 4 15 63335910 TPM1 G A 1 0.000199681 0.0001 . MedGen:CN169374 not_specified Likely_benign Name\x3dENSR00000077719|Promoter . . 0.0012 synonymous_SNV exonic . 0.0001552 . . . . . . . . . Name\x3d99.896019 4 15 63336099 TPM1 C G 17 0.028754 0.0799 . . . . Name\x3dENSR00000077719|Promoter . . . . intronic . 0.0668895 . . . . . . . . . Name\x3d99.921063 2 15 63340705 LOC100128979 C T 16 0.210863 0.1184 . . . . Name\x3dENSR00000077719|Promoter . . 0.2085 . ncRNA_exonic . 0.0403552 . . Name\x3dOREG1725385|N/A|HNF4A|PAZAR,OREG1271416|N/A|SMARCA4|PAZAR,OREG1676422|N/A|GATA2|PAZAR,OREG1852947|N/A|RB1|PAZAR,OREG1902832|N/A|STAT1|PAZAR,OREG1190035|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.912126 1 15 63349132 TPM1 T A 30 0.126198 0.1325 . . . . . . . . . intronic . 0.0246827 . . . . . . . . 0.1316 Name\x3d98.389911 1 15 63351687 TPM1 A G 160 0.861422 0.8018 . . . . . . . . . intronic . 0.161246 . . . . . . . . . Name\x3d98.656370 1 15 63351736 TPM1 G A 1 0.00119808 0.0001 . . . . . . . 0.0004 . intronic . 0.0006274 . . . . . . . . 0.0007 Name\x3d99.215568 3 15 63351840 TPM1 C A 130 0.705671 0.6539 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.6555 synonymous_SNV exonic . 0.669267 . . . . . . . . 0.6458 Name\x3d99.739207 1 15 63351873 TPM1 T C 15 0.0241613 0.0706 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0779 synonymous_SNV exonic . 0.0524314 . . . . . . . . 0.0713 Name\x3d99.803976 1 15 63353451 TPM1 A G 2 0.00259585 0.0005 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000993718|Enhancer . . 0.0006 synonymous_SNV exonic . 0.0010673 . . . . . . . . 0.0005 Name\x3d99.871204 4 15 63353565 TPM1 A G 1 0.000199681 . . . . . Name\x3dENSR00000993718|Enhancer . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d99.832509 6 15 63354009 TPM1 G C 4 0.00898562 0.0120 . . . . Name\x3dENSR00000993718|Enhancer . . 0.0139 . intronic . 0.0119727 . . . . . . . . 0.0128 Name\x3d99.525360 2 15 63356184 TPM1 C T 1 0.000798722 0.0001 . . . . . . . . . intronic . 0.0002305 . . Name\x3dOREG1271417|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.603191 4 15 63356237 TPM1 C T 3 0.000599042 0.0003 . . . . . . . 0.0005 . intronic . 0.0003105 . . Name\x3dOREG1271417|N/A|SMARCA4|PAZAR . . . . . 0.0005 Name\x3d99.839659 8 15 63358033 TPM1 T C 1 0.0151757 0.0017 . . . . . . Name\x3dMIMAT0000076|hsa-miR-21-5p|Experimental . . intronic . 0.0042646 . . . . . . . . . . 1 15 63362256 TPM1 A G 1 0.000599042 0.0006 . . . . Name\x3dENSR00000993720|Enhancer . . . . UTR3 . 0.000194 . . . . . . . . . Name\x3d98.998416 4 15 63363401 TPM1 C CATTTT,CATTTTGTTTT 1 0.127396 0.5105 . . . . . . . 0.5274 . UTR3 . 0.0115328 . . . . . . . . . Name\x3d98.277992 1 15 63363402 TPM1 G A 72 0.372005 0.0097 . MedGen:CN169374 not_specified Benign . . . 0.0074 . UTR3 . 0.0122185 . . . . . . . . . Name\x3d98.277992 1 15 66679649 MAP2K1 T TC 19 0.147165 0.0757 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|not_specified Benign/Likely_benign Name\x3dENSR00000078166|Promoter . . 0.1089 . UTR5 . 0.0004851 . . Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR . . . . . 0.0874 Name\x3d99.371543 1 15 66679798 MAP2K1 C G 2 0.00758786 0.0252 . . . . Name\x3dENSR00000078166|Promoter . . 0.0159 . intronic . 0.0048835 . . Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR . . . . . 0.0140 Name\x3d99.844827 1 15 66679819 MAP2K1 G C 21 0.0361422 0.0862 . . . . Name\x3dENSR00000078166|Promoter . . . . intronic . 0.0581681 . . Name\x3dOREG1548518|N/A|ETS1|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1231486|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.893784 3 15 66679850 MAP2K1 TG T 21 0.0361422 0.0864 . . . . Name\x3dENSR00000078166|Promoter . . . . intronic . 0.0107961 . . Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR . . . . . . Name\x3d99.859840 1 15 66679867 MAP2K1 C T 1 0.000199681 . . . . . Name\x3dENSR00000078166|Promoter . . . . intronic . 3.84e-05 . . Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.861026 5 15 66727597 MAP2K1 G C 69 0.270767 0.3215 . MedGen:CN169374 not_specified Benign . . . 0.3226 . intronic . 0.310293 . . . . . . . . 0.3353 Name\x3d97.091206 0 15 66729250 MAP2K1 C T 6 0.0191693 0.0200 . MedGen:CN169374 not_specified Benign . . . 0.0283 . intronic . 0.0263386 . . . . . . . . 0.0236 . -2 15 66735551 MAP2K1 C T 193 0.855232 0.9127 . . . . . . . . . intronic . 0.177346 . . . . . . . . . Name\x3d96.869498 1 15 66736922 MAP2K1 G A 2 0.000998403 0.0045 . . . . . . . . . intronic . 0.0004851 . . . . . . . . . Name\x3d98.245217 1 15 66777345 MAP2K1 G A 2 0.00539137 0.0182 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign . . . 0.0165 synonymous_SNV exonic . 0.0113582 . . . . . . . . 0.0207 Name\x3d99.772167 -1 15 66779537 MAP2K1 A C 1 0.000199681 6.482e-05 . . . . . . . 0.0001 . intronic . 8.41e-05 . . . . . . . . . Name\x3d99.552630 3 15 66779698 MAP2K1 C T 17 0.0900559 0.0903 . . . . . . . . . intronic . 0.0164746 . . . . . . . . 0.0893 . -1 15 66782048 MAP2K1 C T 17 0.0892572 0.0899 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified Benign . . . 0.0860 . intronic . 0.0828838 . . . . . . 0.0003 0.008 0.0854 Name\x3d99.701726 0 15 66782108 SNAPC5 CTATT C 1 0.00119808 0.0029 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified Benign . . . 0.0031 . UTR3 . 0.0018434 . . . . . . . . 0.0029 Name\x3d98.356641,99.640818 1 15 73614834 HCN4 T C 202 0.859625 0.9396 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.9273 synonymous_SNV exonic . 0.88158 . . . . . . . . 0.9344 Name\x3d99.917057 -1 15 73614974 HCN4 G A 1 0.000199681 0.0001 4.878 . . . . . . . nonsynonymous_SNV exonic . 5.17e-05 D . . . D D . . . Name\x3d99.885622 6 15 73615084 HCN4 G A 1 0.000599042 0.0030 3.325 MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0065 nonsynonymous_SNV exonic . 0.0013519 D . . . B D . . 0.0009 Name\x3d99.866784 4 15 73615097 HCN4 T C 5 0.0081869 0.0119 -3.599 MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign . . . 0.0322 nonsynonymous_SNV exonic . 0.008247 T . . . B T . . 0.0126 Name\x3d99.847514 0.5 15 73615146 HCN4 G A 1 0.0071885 0.0003 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign . . . 0.0025 synonymous_SNV exonic . 0.0016106 . . . . . . . . 0.0004 Name\x3d99.872069 1 15 73615531 HCN4 G A 2 0.000399361 . 1.536 MedGen:CN169374 not_specified Uncertain_significance . . . 7.257e-05 nonsynonymous_SNV exonic . 5.82e-05 D . . . B T . . . Name\x3d99.616832 3 15 73615786 HCN4 G C 2 0.00339457 0.0121 0.186 Human_Phenotype_Ontology:HP:0030682,MedGen:C1960469,Orphanet:ORPHA54260,SNOMED_CT:427608000|MedGen:C1834144,OMIM:163800|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Left_ventricular_noncompaction|Sick_sinus_syndrome_2,_autosomal_dominant|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0115 nonsynonymous_SNV exonic . 0.0077554 T . . . B D . . 0.0132 Name\x3d99.668182 -1 15 73615878 HCN4 C T 8 0.0275559 0.0483 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign . . . 0.0471 synonymous_SNV exonic . 0.0447148 . . . . . . . . 0.0488 Name\x3d99.712799 -1 15 73615940 HCN4 G A 1 0.000199681 . . . . . . . . 3.76e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.611743 3 15 73616252 HCN4 C T 1 0.000199681 . 3.312 MedGen:C2751083,OMIM:613123 Brugada_syndrome_8 Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 5.82e-05 D . . . D D . . . Name\x3d99.919174 6 15 73616635 HCN4 T C 202 0.772963 0.9348 . MedGen:CN169374 not_specified Benign . . . 0.9241 . intronic . 0.0002458 . . . . . . . . 0.9314 . -2 15 73617239 HCN4 C T 2 0.00379393 0.0131 . . . . . . . . . intronic . 0.0020634 . . . . . . . . . Name\x3d97.538347 -1 15 73617250 HCN4 C T 4 0.00778754 0.0218 . . . . . . . 0.0216 . intronic . 0.0146052 . . . . . . . . 0.0216 . -2 15 73617804 HCN4 G T 2 0.00339457 0.0119 . MedGen:CN169374 not_specified Benign . . . 0.0096 . intronic . 0.0071539 . . . . . . . . 0.0145 Name\x3d98.527667 -1 15 73617851 HCN4 C T 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 2 15 73621933 HCN4 C T 1 0.000199681 . 6.335 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 2.59e-05 D . . . D D . . . Name\x3d99.938418 9 15 73621946 HCN4 G A 21 0.053115 0.1063 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0928 synonymous_SNV exonic . 0.0839058 . . . . . . . . 0.0910 Name\x3d99.933404 -1 15 73622049 HCN4 C T 1 0.000199681 0.0001 . MedGen:CN230736 Cardiovascular_phenotype Likely_benign . . . 3.683e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d99.925392 3 15 73622061 HCN4 G A 1 0.000199681 . . MedGen:C2751083,OMIM:613123|MedGen:CN169374 Brugada_syndrome_8|not_specified Benign/Likely_benign . . . 3.71e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d99.905001 3 15 73624463 HCN4 C T 1 0.000599042 6.482e-05 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN517202 Brugada_syndrome_8|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 1.842e-05 . intronic . 0.0001682 . . . . . . . . . Name\x3d99.371777 1 15 73660154 HCN4 T C 1 0.000199681 0.0018 0.242 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000520949|Promoter . . . nonsynonymous_SNV exonic . 0.0001035 T . Name\x3dOREG1506778|N/A|EGR1|PAZAR . B T . . . Name\x3d99.942508 4.5 15 73660505 HCN4 C T 24 0.0249601 0.0593 2.191 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000520949|Promoter . . 0.1281 nonsynonymous_SNV exonic . 0.0002717 T . Name\x3dOREG1506778|N/A|EGR1|PAZAR . B D . . 0.0508 Name\x3d99.766523 1 15 73660576 HCN4 G C 2 0.00359425 0.0063 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000520949|Promoter . . 0.0087 synonymous_SNV exonic . 0.0027684 . . Name\x3dOREG1506778|N/A|EGR1|PAZAR . . . . . 0.0047 Name\x3d99.852221 3 16 30913382 CTF1 C T 1 0.000599042 . . . . . . . . . . intronic . 3.88e-05 . . Name\x3dOREG1256361|N/A|SMARCA4|PAZAR,OREG1226096|N/A|SMARCA4|PAZAR . . . . . . Name\x3d95.437069 4 16 30913405 CTF1 C T 1 0.000199681 . 2.493 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1226096|N/A|SMARCA4|PAZAR,OREG1256361|N/A|SMARCA4|PAZAR . B T . . . Name\x3d97.573393 7.5 16 30913845 CTF1 C G 1 0.00119808 0.0016 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0087 synonymous_SNV exonic . 0.0008797 . . Name\x3dOREG1256361|N/A|SMARCA4|PAZAR,OREG1226096|N/A|SMARCA4|PAZAR,OREG0075153|N/A|TFAP2A|JASPAR,OREG1174768|N/A|TFAP2C|PAZAR . . . . . . Name\x3d97.544957 4 17 8192158 RANGRF C T 1 0.000599042 0.0005 1.830 MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Uncertain_significance Name\x3dENSR00000548740|Promoter . . 0.0008 nonsynonymous_SNV exonic . 0.0005498 T . Name\x3dOREG1792302|N/A|RBL2|PAZAR,OREG1806025|N/A|RBL2|PAZAR . B T . . 0.0013 Name\x3d95.632641 4.5 17 8192922 na C T 11 0.141573 0.0430 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000548740|Promoter . . 0.0426 . UTR3 . 0.0920816 . . . . . . . . 0.0433 . -1 17 8192970 RANGRF G A 2 0.00778754 0.0187 . . . . Name\x3dENSR00000548740|Promoter . . 0.0194 . UTR3 . 0.0131952 . . . . . . 0.0002 0.036 0.0197 . -1 17 8192987 RANGRF C A 1 0.000199681 . . . . . Name\x3dENSR00000548740|Promoter . . 1.867e-05 . UTR3 . 1.29e-05 . . . . . . . . . . 3 17 37821770 TCAP C T 3 0.0301518 0.0545 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000093970|Promoter . . 0.0537 . intronic . 0.041112 . . . . . . . . 0.0561 Name\x3d98.546347 2 17 37821927 TCAP G C 4 0.00379393 0.0020 . . . . Name\x3dENSR00000093970|Promoter . . 0.0039 . intronic . 0.0029495 . . . . . . . . 0.0029 Name\x3d98.386216 8 17 37822174 TCAP C T 2 0.00838658 0.0039 6.733 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C4225408,OMIM:607487|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1N|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign Name\x3dENSR00000093970|Promoter . Name\x3dMIMAT0004804|hsa-miR-615-5p|Experimental,MIMAT0019737|hsa-miR-4664-5p|Experimental,MIMAT0004694|hsa-miR-342-5p|Experimental 0.0039 nonsynonymous_SNV exonic . 0.0168885 D . Name\x3dOREG1492801|N/A|EGR1|PAZAR . D D . . 0.0042 Name\x3d99.323358 10 17 37822311 TCAP A C 149 0.54972 0.7039 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign Name\x3dENSR00000093970|Promoter . . 0.7260 synonymous_SNV exonic . 0.66428 . . Name\x3dOREG1492801|N/A|EGR1|PAZAR . . . . . 0.7122 Name\x3d99.114223 5 17 39911975 JUP G T 1 0.00159744 0.0026 . MedGen:CN169374 not_specified Benign . . . 0.0029 . UTR3 . 0.0029042 . . . . . . 0.0001 0.018 0.0035 Name\x3d96.265799 3 17 39912145 JUP T A 155 0.58726 0.7420 1.242 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.7257 nonsynonymous_SNV exonic . 0.657482 T . . . B T . . 0.7391 Name\x3d99.303397 2.5 17 39912581 JUP A G 160 0.636581 0.7696 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 17 39912590 JUP G A 3 0.000798722 0.0015 . . . . . . . . . intronic . 0.00146 . . . . . . . . . . 6 17 39913645 JUP T C 155 0.717252 0.7529 . MedGen:CN169374 not_specified Benign . . . 0.7367 . intronic . 0.705741 . . . . . . . . 0.7456 . 0 17 39913826 JUP G A 1 0.00279553 0.0004 . . . . . . . 0.0007 . intronic . 0.0012742 . . . . . . . . 0.0001 . 2 17 39914070 JUP G T 155 0.638978 0.7493 . MedGen:CN169374 not_specified Benign . . . 0.7328 . intronic . 0.662385 . . . . . . . . 0.7430 . 0 17 39915057 JUP T C 1 0.00239617 0.0112 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0063 synonymous_SNV exonic . 0.0046118 . . . . . . . . 0.0042 Name\x3d99.242843 1 17 39919367 JUP G A 1 0.00119808 6.483e-05 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0002 synonymous_SNV exonic . 0.0004269 . . . . . . . . . Name\x3d98.788548 3 17 39923614 JUP A G 177 0.744209 0.8138 . MedGen:CN169374 not_specified Benign . . . 0.8079 . intronic . 0.740928 . . . . . . . . 0.8084 . 0 17 39925713 JUP C T 14 0.0239617 0.0675 7.586 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0620 nonsynonymous_SNV exonic rs41283425|Balding-type-1||8E-10|PMID:30595370 0.0426062 T . . . D D . . 0.0581 Name\x3d99.062306 4 17 39925925 JUP A G 174 0.715655 0.7559 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.7592 synonymous_SNV exonic . 0.691272 . . . . . . . . 0.7552 Name\x3d99.243610 1 17 48243312 SGCA C A 4 0.00459265 0.0114 . . . . Name\x3dENSR00000095614|Promoter . . . . upstream . 0.0015653 . . . . . . . . . Name\x3d99.622953 2 17 48243323 SGCA C T 1 0.00139776 . . . . . Name\x3dENSR00000095614|Promoter . . . . upstream . 0.0003074 . . . . . . . . . Name\x3d98.510978 4 17 48243461 SGCA G A 12 0.0283546 0.0706 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign/Likely_benign Name\x3dENSR00000095614|Promoter . . 0.0692 . intronic . 0.0529941 . . . . . . . . 0.0627 Name\x3d99.541115 2 17 48243504 SGCA C T 214 0.988618 0.9997 . . . . Name\x3dENSR00000095614|Promoter . . 0.9998 . intronic . 0.944212 . . . . . . 0.0002 . 0.9997 Name\x3d95.967132 2 17 48244683 SGCA G C 3 0.0081869 0.0089 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000095614|Promoter . . 0.0084 . intronic . 0.0088615 . . Name\x3dOREG1505010|N/A|EGR1|PAZAR . . . . . 0.0067 Name\x3d99.114083 9 17 48244932 SGCA G A 1 0.00159744 0.0014 . MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2D|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0019 . intronic . 0.0013713 . . . . . . 0.0001 . 0.0014 Name\x3d99.298689 3 17 48245269 SGCA C A 19 0.122404 0.1498 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000558161|Promoter . . 0.1396 . intronic . 0.139222 . . . . . . . . 0.1379 Name\x3d95.568663 2 17 48245324 SGCA G A 1 0.000798722 0.0001 6.470 MedGen:CN169374 not_specified Benign Name\x3dENSR00000558161|Promoter . . 0.0011 nonsynonymous_SNV exonic . 0.0008861 D . . . D D . . 0.0005 Name\x3d99.886478 10 17 48245770 SGCA C A 1 0.00139776 0.0004 2.670 MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2D|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0021 nonsynonymous_SNV exonic . 0.0005563 D . . . P T . . 0.0007 Name\x3d99.891253 3 17 48247689 SGCA C T 7 0.0786741 0.0399 . MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2D|not_specified|not_provided Benign/Likely_benign . . . 0.0370 synonymous_SNV exonic . 0.0452517 . . . . . . . . 0.0416 Name\x3d99.783359 1 17 48247996 SGCA C T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . 0.0001 0.008 . Name\x3d99.668316 5 17 48248083 SGCA C A 1 0.00179712 0.0151 . . . . . . . . . intronic . 0.0018442 . . . . . . . . 0.0057 . 0 17 48252804 SGCA T C 207 0.921925 0.9597 . MedGen:CN169374 not_specified Benign . . . 0.9630 . UTR3 . 0.934264 . . . . . . . . 0.9589 Name\x3d99.248115 1 17 68172326 KCNJ2 C T 24 0.153954 0.1121 . MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED_CT:422348008|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736 Andersen_Tawil_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype Benign . . . 0.1167 synonymous_SNV exonic . 0.128841 . . . . . . . . 0.1186 Name\x3d99.932274 1 17 78078341 GAA T G 1 0.00279553 0.0053 . Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|MeSH:D030342,MedGen:C0950123|MedGen:C0017919,Orphanet:ORPHA79201,SNOMED_CT:29633007|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:C4016981|MedGen:CN517202 Muscular_Diseases|Inborn_genetic_diseases|Glycogen_storage_disease|Glycogen_storage_disease,_type_II|Glycogen_storage_disease_II,_adult_form|not_provided Pathogenic . . . 0.0049 . intronic . 0.0035316 . . . . . . . . 0.0057 Name\x3d98.906401 1 17 78078656 GAA G A 1 0.0115815 0.0348 4.921 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:C1847465|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|Acid_alpha-glucosidase,_allele_2|not_specified|not_provided Benign/Likely_benign,_other . . . 0.0309 nonsynonymous_SNV exonic . 0.0213969 T . . . D T . . 0.0315 Name\x3d99.767635 -1 17 78078709 GAA T C 166 0.714457 0.7537 . 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 Ciliary_dyskinesia|Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7670 synonymous_SNV exonic . 0.0031112 . . . . . . . . 0.7490 Name\x3d99.591056 0 17 78078832 GAA G A 1 0.00958466 0.0060 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0041 synonymous_SNV exonic . 0.0050129 . . Name\x3dOREG0405492|N/A|ESR2|JASPAR . . . . . 0.0038 Name\x3d99.651471 2 17 78079481 GAA C G 165 0.602436 0.7403 . . . . . . . . . intronic . 0.131945 . . . . . . . . . . -1 17 78079509 GAA T G 165 0.605631 0.7396 . MedGen:CN169374 not_specified Benign . . . 0.7462 . intronic . 0.664513 . . . . . . . . 0.7352 Name\x3d96.713393 -1 17 78079544 GAA C G 165 0.602835 0.7403 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7469 . intronic . 0.664603 . . . . . . . . 0.7384 Name\x3d99.486055 0 17 78079597 GAA A G 165 0.600839 0.7401 -1.974 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7469 nonsynonymous_SNV exonic . 0.670573 T . . . B T . . 0.7383 Name\x3d99.528089 1.5 17 78079643 GAA C T 52 0.10603 0.2145 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign/Likely_benign . . . 0.2309 synonymous_SNV exonic . 0.178484 . . . . . . . . 0.22 Name\x3d99.623896 -1 17 78079669 GAA G A 165 0.602436 0.7399 1.133 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign/Likely_benign . . . 0.7474 nonsynonymous_SNV exonic . 0.667863 T . . . B T . . 0.7381 Name\x3d99.557421 1.5 17 78081307 GAA C T 20 0.0870607 0.0702 . MedGen:CN169374 not_specified Benign . . . 0.0651 . intronic . 0.0680328 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.0719 . -1 17 78081515 GAA G A 4 0.00239617 0.0093 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.0105 synonymous_SNV exonic . 0.0066881 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.0120 Name\x3d99.375628 0 17 78081526 GAA AGCGGCGG AGCAGCGGGCGGCGG 164 0.592851 0.7305 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7455 . intronic . 0.0061254 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . . Name\x3d98.919469 0 17 78081551 GAA T C 164 0.601038 0.7302 . MedGen:CN169374 not_specified Benign . . . 0.7468 . intronic . 0.586629 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.7315 Name\x3d97.040998 0 17 78081655 GAA G A 1 0.000399361 0.0016 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0015 synonymous_SNV exonic . 0.0010543 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.0015 Name\x3d99.505217 2 17 78081661 GAA A T 20 0.110224 0.0702 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign/Likely_benign . . . 0.0680 synonymous_SNV exonic . 0.0723212 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.0719 Name\x3d99.695166 0 17 78081707 GAA G A 165 0.604433 0.7398 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7979 . intronic . 0.6232 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.7545 Name\x3d97.689936 0 17 78081786 GAA C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . . Name\x3d95.352252 4 17 78082221 GAA C T 2 0.00519169 0.0139 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0150 . intronic . 0.0107631 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.0166 Name\x3d99.017227 0 17 78082504 GAA G A 164 0.602835 0.7394 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7487 synonymous_SNV exonic . 0.668859 . . . . . . . . 0.7380 Name\x3d99.416633 -1 17 78083726 GAA A G 165 0.711661 0.7527 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7638 . intronic . 0.720638 . . Name\x3dOREG1940686|N/A|TP53|PAZAR . . . . . 0.7486 Name\x3d98.719453 1 17 78083791 GAA C T 20 0.0982428 0.0701 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign/Likely_benign . . . 0.0654 synonymous_SNV exonic . 0.0713251 . . Name\x3dOREG1492585|N/A|EGR1|PAZAR . . . . . 0.0715 Name\x3d99.727705 0 17 78084459 GAA T C 2 0.000399361 . . . . . . . . . . intronic . 7.68e-05 . . Name\x3dOREG1492585|N/A|EGR1|PAZAR . . . . . . Name\x3d96.923924 4 17 78084507 GAA G C 164 0.603035 0.7392 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7469 . intronic . 0.661958 . . Name\x3dOREG1492585|N/A|EGR1|PAZAR . . . . . 0.7379 Name\x3d98.704587 0 17 78084688 GAA C A 164 0.599241 0.7392 . MedGen:CN169374 not_specified Benign . . . 0.7468 . intronic . 0.661828 . . Name\x3dOREG1492585|N/A|EGR1|PAZAR . . . . . 0.7380 Name\x3d99.468177 1 17 78084727 GAA G A 1 0.00279553 0.0060 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0040 . intronic . 0.0028913 . . Name\x3dOREG1492585|N/A|EGR1|PAZAR . . . . . 0.0040 Name\x3d99.076528 2 17 78084769 GAA G A 59 0.159545 0.2710 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign/Likely_benign . . . 0.2746 synonymous_SNV exonic . 0.232131 . . . . . . . . 0.2816 Name\x3d99.582472 1 17 78084887 GAA G A 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d96.953601 3 17 78085710 GAA T G 1 0.00339457 . . . . . . . . . . intronic . 0.0006531 . . . . . . . . . Name\x3d97.193653 1 17 78085911 GAA G A 5 0.063099 0.0660 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign/Likely_benign . . . 0.0621 . intronic . 0.0576707 . . . . . . . . 0.0628 Name\x3d98.074921 -1 17 78086531 GAA G A 9 0.0778754 0.0471 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.0557 . intronic . 0.0001811 . . . . . . . . 0.0313 Name\x3d96.553209 -1 17 78086846 GAA A G 166 0.715056 0.7527 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7731 . intronic . 0.67818 . . . . . . . . 0.7513 Name\x3d98.071406 0 17 78086869 GAA A C 4 0.0463259 . . . . . . . . 4.308e-05 . intronic . 0.0015588 . . . . . . . . . Name\x3d97.662183 -1 17 78086892 GAA C T 6 0.0638978 0.0701 . . . . . . . . . intronic . 0.058975 . . . . . . . . . Name\x3d98.195822 -1 17 78086895 GAA A G 6 0.0621006 0.0704 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002 Glycogen_storage_disease,_type_II Benign . . . . . intronic . 0.0567466 . . . . . . . . . Name\x3d98.195822 -1 17 78086953 GAA G A 67 0.228035 0.3130 . . . . . . . . . intronic . 0.265868 . . . . . . . . . Name\x3d98.287196 -1 17 78087041 GAA G A 9 0.0780751 0.0473 2.321 .|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Acid_alpha-glucosidase,_allele_4|Glycogen_storage_disease,_type_II|not_specified|not_provided Conflicting_interpretations_of_pathogenicity,_other . . . 0.0714 nonsynonymous_SNV exonic . 0.0494172 T . . . B T . . 0.0348 Name\x3d99.667593 0.5 17 78087109 GAA A G 71 0.241613 0.2965 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign/Likely_benign . . . 0.3797 synonymous_SNV exonic . 0.244932 . . . . . . . . 0.2793 Name\x3d99.724578 -1 17 78090928 GAA G A 166 0.789337 0.7549 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7679 . intronic . 0.73446 . . . . . . . . 0.7530 Name\x3d97.377457 0 17 78090932 GAA T C 14 0.207069 0.1240 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Likely_benign . . . 0.1188 . intronic . 0.146719 . . . . . . . . 0.1056 . -2 17 78091359 GAA C G 2 0.00259585 0.0068 . . . . . . . 0.0070 . intronic . 0.0055433 . . . . . . . . 0.0060 Name\x3d97.061299 1 17 78091405 GAA G A 165 0.711861 0.7531 -0.394 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7655 nonsynonymous_SNV exonic . 0.720676 T . . . B T . . 0.7499 Name\x3d99.422464 1.5 17 78091929 GAA C T 1 0.000199681 . . . . . . . . . . intronic . 9.06e-05 . . . . . . . . . Name\x3d97.729624 3 17 78092063 GAA G A 151 0.509385 0.6282 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.6470 synonymous_SNV exonic . 0.574527 . . . . . . . . 0.6427 Name\x3d99.688943 1 17 78092195 GAA G A 1 0.00199681 0.0080 . MedGen:CN517202 not_provided Likely_benign . . . 0.0048 . intronic . 0.0033699 . . . . . . . . 0.0045 Name\x3d96.359759 1 17 78092211 GAA G T 2 0.00219649 0.0077 . MedGen:CN517202 not_provided Likely_benign . . . . . intronic . 0.0014101 . . . . . . . . . Name\x3d96.412140 1 17 78093011 GAA G A 1 0.0145767 0.0056 . . . . . . . . . intronic . 0.0028137 . . . . . . . . 0.0057 Name\x3d96.270375 -1 17 78093221 GAA G A 22 0.120008 0.0776 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002 Glycogen_storage_disease,_type_II Likely_benign . . . . . UTR3 . 0.0159248 . . . . . . . . . . -1 18 3067195 MYOM1 C T 1 0.000199681 . . . . . . . . . . UTR3 . 3.84e-05 . . . . . . . . . . 2 18 3067278 MYOM1 A G 97 0.594449 0.4698 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.5434 synonymous_SNV exonic . 0.486417 . . . . . . . . 0.4664 . -2 18 3067599 MYOM1 A G 26 0.0694888 0.0750 . . . . . . . 0.0808 . intronic . 0.0701737 . . . . . . . . 0.0816 . -2 18 3075503 MYOM1 C CAAA 212 0.992612 0.9925 . . . . . . . 0.9945 . intronic . 0.0978771 . . . . . . . . 0.9933 . -2 18 3075504 MYOM1 G A 1 0.00339457 . . . . . . . . . . intronic . 0.000207 . . . . . . . . . . 0 18 3075554 MYOM1 T C 21 0.193291 0.1270 . . . . . . . . . intronic . 0.030226 . . . . . . . . 0.1216 . -2 18 3075712 MYOM1 C A 98 0.622804 0.4633 . MedGen:CN169374 not_specified Benign . . . 0.5032 . intronic . 0.484994 . . . . . . . . 0.4632 . -2 18 3075746 MYOM1 G A 31 0.183506 0.1955 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2221 synonymous_SNV exonic . 0.157812 . . . . . . . . 0.1697 Name\x3d96.460710 -1 18 3075778 MYOM1 A C 31 0.183506 0.1957 . . . . . . . 0.2104 . intronic . 0.132586 . . . . . . . . 0.1614 . -2 18 3075872 MYOM1 C G 31 0.174121 0.1953 . . . . . . . . . intronic . 0.168396 . . . . . . . . . . -2 18 3083922 MYOM1 A C 4 0.00279553 0.0031 . . . . . . . 0.0106 . intronic . 0.0026649 . . . . . . . . 0.0044 . -2 18 3084152 MYOM1 C T 200 0.863019 0.9300 . . . . . . . . . intronic . 0.900607 . . . . . . . . . . -2 18 3085165 MYOM1 C T 2 0.000399361 6.656e-05 . . . . . . . 0.0002 . intronic . 9.7e-05 . . . . . . . . . . 2 18 3086065 MYOM1 C T 10 0.0521166 0.0806 5.971 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0794 nonsynonymous_SNV exonic . 0.0722306 T . . . D T . . 0.0716 Name\x3d95.549078 2 18 3089123 MYOM1 CTATTT C 10 0.0696885 0.0804 . . . . . . . 0.0849 . intronic . 0.0022574 . . . . . . . . 0.0724 . -2 18 3089522 MYOM1 G T 173 0.800319 0.8161 . MedGen:CN169374 not_specified Benign . . . 0.8034 . intronic . 0.0032535 . . . . . . . . 0.7970 . -2 18 3089677 MYOM1 A G 3 0.00279553 0.0068 . . . . . . . . . intronic . 0.000925 . . . . . . . . . . 4 18 3090661 MYOM1 C T 1 0.000199681 . 6.060 . . . . . . 3.682e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . D T . . . Name\x3d97.503262 6 18 3094131 MYOM1 A G 13 0.01877 0.0181 . . . . . . . 0.0201 . intronic . 0.0216039 . . . . . . . . 0.0215 . -2 18 3100051 MYOM1 T C 205 0.913339 0.9178 . . . . . . . . . intronic . 0.0335024 . . . . . . . . . . -2 18 3100429 MYOM1 G A 109 0.348043 0.4369 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.4727 . intronic . 0.407026 . . Name\x3dOREG1519899|N/A|EGR1|PAZAR . . . . . 0.4470 . -1 18 3102499 MYOM1 C T 1 0.000399361 0.0002 6.258 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0005 nonsynonymous_SNV exonic . 0.0002329 D . . . D D . . 0.0005 . 6 18 3102674 MYOM1 A G 1 0.000199681 6.48e-05 . . . . . . . 7.446e-05 . intronic . 5.82e-05 . . . . . . . . . . 2 18 3112230 MYOM1 A C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 18 3112231 MYOM1 G C 135 0.596046 0.5835 . . . . . . . . . intronic . 0.117793 . . . . . . . . . . -2 18 3112252 MYOM1 C A 39 0.0810703 0.1792 . . . . . . . 0.1865 . intronic . 0.135807 . . . . . . . . 0.1805 . -2 18 3120060 MYOM1 G A 178 0.852436 0.7970 . . . . . . . . . intronic . 0.808552 . . Name\x3dOREG1684796|N/A|GATA3|PAZAR,OREG1628683|N/A|FOS|PAZAR . . . . . . . -1 18 3126632 MYOM1 C T 146 0.813698 0.6995 . . . . . . . . . intronic . 0.140567 . . Name\x3dOREG1107687|N/A|TP63|JASPAR . . . . . . . -1 18 3126811 MYOM1 A G 32 0.254393 0.1416 0.079 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1533 nonsynonymous_SNV exonic . 0.184202 T . . . B T . . 0.1415 . -0.5 18 3129535 MYOM1 C T 3 0.00199681 0.0040 . . . . Name\x3dENSR00000567718|Promoter . . 0.0052 . intronic . 0.0030983 . . Name\x3dOREG1278593|N/A|SMARCA4|PAZAR,OREG1246787|N/A|SMARCA4|PAZAR . . . . . 0.0042 Name\x3d97.658426 7 18 3134610 MYOM1 A G 34 0.238019 0.1491 . . . . . . . 0.1591 . intronic . 0.180418 . . . . . . . . 0.1403 . -2 18 3134826 MYOM1 A C 3 0.00599042 0.0152 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign . . . 0.0141 . intronic . 0.0103362 . . . . . . . 0.002 0.0136 . -2 18 3135644 MYOM1 C T 1 0.00239617 0.0126 7.909 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign . . . 0.0062 nonsynonymous_SNV exonic . 0.0052457 T . . . D T . . 0.0039 . 1 18 3142040 MYOM1 G A 2 0.000399361 . 7.299 . . . . . . 3.692e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . D D . . . Name\x3d95.579271 9 18 3164385 MYOM1 C T 54 0.16873 0.1897 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2444 synonymous_SNV exonic . 0.182617 . . . . . . . . 0.2072 . -2 18 3168816 MYOM1 G A 45 0.282149 0.2756 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2619 synonymous_SNV exonic . 0.258082 . . . . . . 0.0006 0.042 0.2648 . -2 18 3173873 MYOM1 G A 60 0.315895 0.3229 . . . . . . . . . intronic . 0.0601674 . . . . . . . . 0.3240 . -2 18 3173964 MYOM1 G A 60 0.316094 0.3235 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.3110 synonymous_SNV exonic . 0.29834 . . . . . . . . 0.3157 . -2 18 3174018 MYOM1 C T 40 0.192292 0.2670 . . . . . . . 0.2474 . intronic . 0.221084 . . . . . . . . 0.2582 . -2 18 3174056 MYOM1 C A 60 0.315695 0.3220 . . . . . . . . . intronic . 0.0595529 . . . . . . . . 0.3240 . -2 18 3174064 MYOM1 G T 40 0.191893 0.2671 . . . . . . . . . intronic . 0.0391198 . . . . . . . . 0.2652 . -2 18 3174076 MYOM1 A AAC 40 0.233427 0.2683 . . . . . . . 0.2491 . intronic . 0.0141913 . . . . . . . . 0.2591 . -2 18 3174084 MYOM1 C CAT 20 0.0810703 0.0548 . . . . . . . 0.0617 . intronic . 0.0020051 . . . . . . . . 0.0564 . -2 18 3174238 MYOM1 G A 7 0.00958466 0.0248 . . . . . . . 0.0321 . intronic . 0.0211834 . . . . . . . . 0.0269 . -2 18 3176017 MYOM1 C T 39 0.191693 0.2668 . . . . . . . 0.2505 . intronic . 0.212591 . . . . . . . . 0.2556 . -2 18 3176040 MYOM1 C G 138 0.757188 0.7317 -1.049 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.7034 nonsynonymous_SNV exonic . 0.72391 T . . . B T 0.9992 0.75 0.7156 . 0.5 18 3176063 MYOM1 C T 59 0.273163 0.3222 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.3062 synonymous_SNV exonic . 0.282008 . . . . . . . . 0.3116 Name\x3d95.189371 -1 18 3176190 MYOM1 A AACACACACAT 20 0.0808706 . . . . . . . . . . intronic . 0.0155602 . . . . . . . . . . -2 18 3188715 MYOM1 T C 16 0.0898562 0.0465 . . . . . . . 0.0944 . intronic . 0.0493655 . . . . . . . . 0.0573 . -2 18 3188778 MYOM1 C T 2 0.00219649 0.0051 5.491 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0060 nonsynonymous_SNV exonic . 0.0040103 T . . . P D . . 0.0056 . 3 18 3188857 MYOM1 A G 16 0.0894569 0.0466 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0574 synonymous_SNV exonic . 0.0124901 . . . . . . . . 0.0589 . -2 18 3188873 MYOM1 G A 16 0.0716853 0.0463 0.500 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0571 nonsynonymous_SNV exonic . 0.055562 T . . . B T . . 0.0586 . -0.5 18 3188927 MYOM1 G A 2 0.00379393 0.0005 -0.419 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign . . . 0.0011 nonsynonymous_SNV exonic . 0.0021669 T . . . P T . . 0.0008 . 1.5 18 3188976 MYOM1 A G 67 0.443291 0.4435 2.095 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.4159 nonsynonymous_SNV exonic . 0.429069 T . . . D T . . 0.4153 . -2 18 3214918 MYOM1 G C 34 0.286142 0.2878 . MedGen:CN169374 not_specified Benign . . . 0.2858 . intronic . 0.264169 . . . . . . . . 0.2615 . -2 18 3215004 MYOM1 G A 1 0.000199681 . 1.311 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . P D . . . . 2 18 3215030 MYOM1 C A 9 0.0730831 0.0661 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0653 synonymous_SNV exonic . 0.063311 . . . . . . . . 0.0565 . -2 18 3215083 MYOM1 T C 1 0.00259585 0.0125 2.576 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign . . . 0.0057 nonsynonymous_SNV exonic . 0.0045924 T . . . B D . . 0.0025 Name\x3d95.661735 -1 18 3215131 MYOM1 G T 2 0.013778 0.0169 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign . . . 0.0174 synonymous_SNV exonic . 0.0162676 . . . . . . . . 0.0127 Name\x3d95.172521 -1 18 3215156 MYOM1 C G 11 0.128994 0.0948 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0988 synonymous_SNV exonic . 0.0951669 . . . . . . . . 0.0858 . -2 18 3215158 MYOM1 C G 11 0.127995 0.0948 1.149 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0993 nonsynonymous_SNV exonic . 0.0956003 T . . . B T . . 0.0859 . -0.5 18 3215230 MYOM1 C T 55 0.335663 0.2311 . MedGen:CN169374 not_specified Benign . . . 0.2693 . UTR5 . 0.251064 . . . . . . . . 0.2245 . -2 18 9102713 NDUFV2 G A 1 0.000199681 . . . . . Name\x3dENSR00000100502|Promoter . . 7.759e-05 . UTR5 . 1.94e-05 . . Name\x3dOREG1879398|N/A|STAT1|PAZAR,OREG1480278|N/A|E2F4|PAZAR,OREG1490087|N/A|EGR1|PAZAR,OREG1850725|N/A|RB1|PAZAR,OREG1608484|N/A|FOXP1|PAZAR,OREG1251554|N/A|SMARCA4|PAZAR,OREG1543500|N/A|ETS1|PAZAR . . . . . . Name\x3d99.548319 5 18 9102738 NDUFV2 C T 1 0.000199681 . . . . . Name\x3dENSR00000100502|Promoter . . 6.982e-05 . UTR5 . 2.59e-05 . . Name\x3dOREG0253837|N/A|YY1|JASPAR,OREG1608484|N/A|FOXP1|PAZAR,OREG1850725|N/A|RB1|PAZAR,OREG1251554|N/A|SMARCA4|PAZAR,OREG1490087|N/A|EGR1|PAZAR,OREG1879398|N/A|STAT1|PAZAR . . . . . . Name\x3d99.516286 5 18 9117867 NDUFV2 T C 179 0.778954 0.8148 0.840 MedGen:C1838867,OMIM:556500|MedGen:C2936907,Orphanet:ORPHA2609|MedGen:CN169374|MedGen:CN517202 Parkinson_disease,_mitochondrial|Mitochondrial_complex_I_deficiency|not_specified|not_provided Benign Name\x3dENSR00000568994|Promoter . . 0.8135 nonsynonymous_SNV exonic . 0.792913 T . Name\x3dOREG1251555|N/A|SMARCA4|PAZAR,OREG1221377|N/A|SMARCA4|PAZAR . B T . . 0.8194 Name\x3d99.503277 2.5 18 9119489 NDUFV2 A T 19 0.0750799 0.1004 . MedGen:C2936907,Orphanet:ORPHA2609|MedGen:CN169374|MedGen:CN517202 Mitochondrial_complex_I_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1014 synonymous_SNV exonic . 0.0861632 . . . . . . . . 0.1129 Name\x3d99.705047 -1 18 9124799 na CT C 142 0.630391 0.5877 . . . . . . . . . ncRNA_intronic . 0.0001153 . . . . . . . . . Name\x3d96.637622 -1 18 9124909 NDUFV2 C G 1 0.000199681 6.5e-05 5.999 . . . . . . 3.697e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . D D . . . Name\x3d99.724504 6 18 9126856 NDUFV2 G T 1 0.000199681 . 14.347 . . . . . . 1.844e-05 stopgain exonic . 1.29e-05 . . . . . . . . . Name\x3d99.694918 11 18 9134344 na T C 1 0.00339457 0.0104 . . . . . . . . . ncRNA_intronic . 0.0016559 . . . . . . . . . Name\x3d96.248345 -1 18 9134354 na C G 19 0.0754792 0.1003 . MedGen:C2936907,Orphanet:ORPHA2609 Mitochondrial_complex_I_deficiency Likely_benign . . . . . ncRNA_intronic . 0.0194693 . . . . . . . . . . -2 18 19358240 MIB1 G C 6 0.0071885 0.0341 . . . . . . . . . intronic . 0.005595 . . Name\x3dOREG1580803|N/A|FOXA1|PAZAR,OREG1639411|N/A|FOXA1|PAZAR . . . . . . Name\x3d96.156903 0 18 19418264 MIB1 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 18 19423003 MIB1 T C 20 0.0872604 0.0748 . . . . . . . . . intronic . 0.0152973 . . . . . . . . . . -2 18 19427096 MIB1 A G 20 0.0878594 0.0754 . MedGen:C3554496,OMIM:615092|MedGen:CN169374 Left_ventricular_noncompaction_7|not_specified Benign . . . 0.0932 . intronic . 0.0780779 . . . . . . . . 0.0848 Name\x3d98.554109 -1 18 19429173 MIB1 C T 1 0.000199681 . 7.064 . . . . . . 1.852e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d99.031782 6 18 19444661 MIB1 A C 20 0.0856629 0.0730 . . . . . . . 0.0795 . UTR3 . 0.0740159 . . Name\x3dOREG1256525|N/A|SMARCA4|PAZAR . . . . . 0.0815 Name\x3d98.699221 0 18 28647935 DSC2 T A 1 0.00519169 0.0042 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005 Arrhythmogenic_right_ventricular_cardiomyopathy Likely_benign . . . 0.0032 . UTR3 . 0.0039197 . . . . . . . . . . 2 18 28647996 DSC2 T C 1 0.000199681 . . . . . . . Name\x3dMIMAT0004683|hsa-miR-362-3p|Experimental . synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.850691 6 18 28647999 DSC2 T TTC 2 0.00359425 0.0169 . 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:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0120 frameshift_insertion exonic . 0.0003234 . . . . . . . . 0.0134 Name\x3d99.850691 9 18 28648200 DSC2 C T 18 0.0199681 0.0586 . . . . . . . 0.0538 . intronic . 0.0369788 . . . . . . . . 0.0607 Name\x3d99.659321 1 18 28648975 DSC2 C T 9 0.0275559 0.0525 0.324 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0551 nonsynonymous_SNV exonic . 0.0472762 T . . . B T . . 0.0452 Name\x3d99.720223 2.5 18 28649042 DSC2 T C 15 0.196486 0.0801 -1.683 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . Name\x3dMIMAT0017982|hsa-miR-3605-3p|Experimental,MIMAT0006789|hsa-miR-1468-5p|Experimental,MIMAT0004601|hsa-miR-145-3p|Experimental 0.0834 nonsynonymous_SNV exonic . 0.118148 T . . . B T . . 0.0837 Name\x3d99.813745 3.5 18 28649144 DSC2 G T 2 0.00579073 0.0232 . . . . . . . 0.0187 . intronic . 0.0138873 . . . . . . . . 0.0186 . 0 18 28649166 DSC2 A G 10 0.0611022 0.0486 . MedGen:CN169374 not_specified Benign . . . 0.0553 . intronic . 0.0619397 . . . . . . . . 0.0498 Name\x3d96.810692 1 18 28650748 DSC2 A C 1 0.000599042 0.0023 0.742 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0022 nonsynonymous_SNV exonic . 0.0012678 T . . . B T . . 0.0013 Name\x3d99.944164 4.5 18 28654750 DSC2 G A 1 0.00219649 0.0005 4.177 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . Name\x3dMIMAT0003339|hsa-miR-421|Experimental 0.0013 nonsynonymous_SNV exonic . 0.0011578 T . . . P D . . 0.0013 Name\x3d99.717268 4 18 28660379 DSC2 G A 1 0.000199681 0.0001 . . . . . . . . . intronic . 2.59e-05 . . . . . . . . . . 4 18 28666526 DSC2 T TTAA 214 0.996006 1 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified Benign/Likely_benign . . . 1 . intronic . 0.0292752 . . . . . . . . 1 Name\x3d97.856104 1 18 28666646 DSC2 G A 1 0.000199681 . 5.339 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN517202 Cardiomyopathy|not_provided Conflicting_interpretations_of_pathogenicity . . . 7.366e-05 nonsynonymous_SNV exonic . 6.47e-05 T . . . D D . . 0.0001 Name\x3d99.782558 8 18 28669387 DSC2 C T 1 0.000399361 . . . . . . . . 1.842e-05 . intronic . 3.23e-05 . . . . . . . . . Name\x3d97.065063 5 18 28669470 DSC2 C A 1 0.000199681 . 2.982 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d99.933617 6.5 18 28670946 DSC2 G C 1 0.00439297 0.0169 . . . . . . . 0.0111 . intronic . 0.0086868 . . . . . . . . 0.0124 Name\x3d98.264198 1 18 28671068 DSC2 C T 1 0.000599042 . 0.476 . . . . . . 5.582e-05 nonsynonymous_SNV exonic . 8.41e-05 T . . . B T . . . Name\x3d99.837421 4.5 18 28671130 DSC2 A G 1 0.000199681 . . . . . . . . 1.923e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.249109 5 18 28672067 DSC2 T C 3 0.00379393 0.0152 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0127 synonymous_SNV exonic . 0.0087386 . . . . . . . . 0.0117 Name\x3d99.904930 1 18 28673565 DSC2 T C 25 0.123602 0.1166 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1084 synonymous_SNV exonic . 0.113071 . . . . . . . . 0.1210 Name\x3d99.531283 1 18 29078121 DSG2 G C 1 0.00738818 0.0042 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign Name\x3dENSR00000101963|Promoter . . . . UTR5 . 0.0041494 . . Name\x3dOREG1184072|N/A|TFAP2C|PAZAR,OREG1505543|N/A|EGR1|PAZAR . . . . . . Name\x3d99.573500 5 18 29078160 DSG2 G C 1 0.000399361 0.0027 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Uncertain_significance Name\x3dENSR00000101963|Promoter . . . . UTR5 . 0.0074535 . . Name\x3dOREG1184072|N/A|TFAP2C|PAZAR,OREG1505543|N/A|EGR1|PAZAR . . . . . . Name\x3d99.775761 5 18 29078333 DSG2 C G 7 0.0189696 0.0166 . . . . Name\x3dENSR00000101963|Promoter . . . . intronic . 0.003053 . . Name\x3dOREG1184072|N/A|TFAP2C|PAZAR,OREG1505543|N/A|EGR1|PAZAR . . . . . . Name\x3d99.189136 3 18 29098253 DSG2 G T 1 0.000199681 0.0003 . . . . . . . 0.0002 . intronic . 0.0001552 . . . . . . . . . Name\x3d98.937025 5 18 29098254 DSG2 A G 1 0.000199681 0.0003 . . . . . . . 0.0002 . intronic . 0.0001552 . . . . . . . . . Name\x3d98.937025 5 18 29098323 DSG2 G A 73 0.369209 0.3890 . . . . . . . . . intronic . 0.0734855 . . . . . . . . . Name\x3d98.669675 1 18 29098345 DSG2 C T 43 0.219848 0.2725 . . . . . . . . . intronic . 0.0511766 . . . . . . . . . Name\x3d97.295206 1 18 29099850 DSG2 G A 1 0.000199681 0.0021 5.774 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1857777,OMIM:610193|MedGen:C2752072,OMIM:612877|MedGen:C4053736,OMIM:604772|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|Dilated_cardiomyopathy_1BB|Catecholaminergic_polymorphic_ventricular_tachycardia_type_1|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity,_risk_factor . . . 0.0028 nonsynonymous_SNV exonic . 0.0019275 T . . . D D . . 0.0035 Name\x3d99.897715 6 18 29101010 DSG2 G A 1 0.000599042 0.0006 . . . . . . . . . intronic . 0.0001552 . . . . . . . . 0.0013 Name\x3d96.253135 3 18 29101230 DSG2 T A 31 0.141374 0.1115 . MedGen:CN169374 not_specified Benign . . . 0.1141 . intronic . 0.0143012 . . . . . . . . 0.0699 . 0 18 29104564 DSG2 C A 44 0.211462 0.265 . MedGen:CN169374 not_specified Benign . . . 0.2530 . intronic . 0.244977 . . . . . . . . 0.2609 Name\x3d97.102655 1 18 29104632 DSG2 A T 1 0.000399361 0.0002 . . . . . . . 0.0001 . intronic . 0.0001035 . . . . . . . . 0.0002 Name\x3d97.648853 5 18 29104698 DSG2 C T 74 0.526558 0.3800 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.3679 synonymous_SNV exonic . 0.408766 . . . . . . . . 0.3787 Name\x3d99.858351 1 18 29104714 DSG2 A G 23 0.0323482 0.0937 3.997 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0895 nonsynonymous_SNV exonic . 0.0683626 T . . . D D . . 0.0859 Name\x3d99.893970 4 18 29104878 DSG2 G A 44 0.216254 0.2658 . MedGen:CN169374 not_specified Benign . . . 0.2558 . intronic . 0.247856 . . . . . . . . 0.2614 Name\x3d97.570463 1 18 29116462 DSG2 T C 33 0.14357 0.1162 . . . . . . . . . intronic . 0.0221407 . . . . . . . . . Name\x3d98.719724 1 18 29122618 DSG2 G A 14 0.0259585 0.0845 1.194 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0723 nonsynonymous_SNV exonic . 0.0534728 T . . . P T . . 0.0777 Name\x3d99.730255 2.5 18 29122799 DSG2 G A 41 0.240016 0.2606 2.152 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.2549 nonsynonymous_SNV exonic . 0.256601 T . . . B T . . 0.2540 Name\x3d99.929106 2.5 18 29125854 DSG2 A G 29 0.197484 0.1089 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.1085 synonymous_SNV exonic . 0.12745 . . . . . . . . 0.1076 Name\x3d99.924682 1 18 29126108 DSG2 T G 4 0.00319489 0.0042 3.890 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0048 nonsynonymous_SNV exonic . 0.0034023 T . . . P D . . 0.0050 Name\x3d99.805216 7 18 29126592 DSG2 C T 1 0.0103834 0.0044 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . Name\x3dMIMAT0000690|hsa-miR-296-5p|Experimental 0.0052 synonymous_SNV exonic . 0.0057826 . . . . . . . . 0.0040 Name\x3d99.707654 2 18 29126670 DSG2 T C 74 0.542931 0.3816 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.3694 synonymous_SNV exonic . 0.419658 . . . . . . . . 0.3777 Name\x3d99.903203 1 18 29171787 TTR C T 1 0.000399361 . . . . . Name\x3dENSR00001016941|TF_binding_site . . . . UTR5 . 7.68e-05 . . Name\x3dOREG1631307|N/A|FOXA1|PAZAR,OREG1572593|N/A|FOXA1|PAZAR,OREG1167690|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.855012 7 18 29172865 TTR G A 9 0.0233626 0.0818 -0.088 .|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 TRANSTHYRETIN_POLYMORPHISM|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0698 nonsynonymous_SNV exonic . 0.0509825 T . . . B T . . 0.0780 Name\x3d99.333449 2.5 18 29178513 TTR G C 10 0.0660942 0.0441 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign . . . 0.0347 . intronic . 0.0510472 . . . . . . . . 0.0383 Name\x3d99.128424 1 18 32335915 DTNA A G 19 0.0479233 0.0868 . MedGen:CN169374 not_specified Benign . . . 0.0846 . intronic . 0.0624701 . . . . . . . . 0.0780 Name\x3d98.984495 1 18 32374062 DTNA G A 2 0.00139776 0.0083 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1858725,OMIM:604169|MedGen:CN169374|MedGen:CN517202 Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Left_ventricular_noncompaction_1|not_specified|not_provided Benign/Likely_benign . . . 0.0069 synonymous_SNV exonic . 0.004793 . . . . . . . . 0.0087 Name\x3d99.731206 3 18 32386101 DTNA C A 23 0.152356 0.1279 . . . . . . . . . intronic . 0.0229945 . . . . . . . . . . 0 18 32386125 DTNA T C 35 0.1248 0.1175 . . . . . . . . . intronic . 0.023305 . . . . . . . . 0.1116 Name\x3d99.065509 1 18 32386340 DTNA T C 23 0.152356 0.1280 . . . . . . . . . intronic . 0.0232274 . . . . . . . . . . 0 18 32398330 DTNA G C 1 0.000199681 . . . . . Name\x3dENSR00001017152|Promoter . . 2.162e-05 . UTR5 . 1.29e-05 . . . . . . . . . Name\x3d99.354172 6 18 32400909 DTNA AC A 22 0.114617 0.1284 . . . . . . . 0.1095 . intronic . 0.0029172 . . . . . . . . 0.1147 . 0 18 32407495 DTNA G A 2 0.000399361 0.0010 . . . . . . . . . intronic . 0.00011 . . . . . . . . . Name\x3d98.909511 3 18 32408892 DTNA A G 3 0.00758786 0.0147 . . . . . . . . . intronic . 0.0019405 . . . . . . . . . Name\x3d98.448154 1 18 32408900 DTNA T C 63 0.229633 0.2631 . . . . . . . . . intronic . 0.0092208 . . . . . . . . . Name\x3d98.448154 1 18 32408968 DTNA C A 1 0.000599042 0.0016 . . . . . . . 0.0013 . intronic . 0.0013389 . . . . . . . . 0.0011 Name\x3d99.654894 3 18 32418186 DTNA T A 63 0.204073 0.2630 . . . . . . . 0.2568 . intronic . 0.224053 . . Name\x3dOREG1590898|N/A|FOXA1|PAZAR . . . . . 0.2615 Name\x3d99.501621 2 18 32418189 DTNA A G 2 0.0361422 0.0003 . . . . . . . . . intronic . 0.001824 . . Name\x3dOREG1590898|N/A|FOXA1|PAZAR . . . . . 0.0003 Name\x3d99.501621 2 18 32418634 DTNA T A 20 0.0553115 0.1276 . . . . . . . . . intronic . 0.0184668 . . . . . . . . . Name\x3d99.578210 1 18 32418771 DTNA A C 1 0.000199681 . 2.223 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D T . . . Name\x3d99.652691 5 18 32444040 DTNA G A 77 0.29373 0.3523 . Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374 Left_ventricular_noncompaction_cardiomyopathy|not_specified Benign . . . 0.4047 . intronic . 0.28933 . . . . . . . . 0.3304 Name\x3d97.749129 1 18 32455379 DTNA T C 30 0.128195 0.1410 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000572779|Enhancer . . 0.1214 . intronic . 0.121732 . . . . . . . . 0.1264 Name\x3d99.035438 2 18 32459584 DTNA C G 1 0.000199681 . 3.167 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d99.609253 8 18 32459697 DTNA G A 3 0.00559105 0.0189 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1858725,OMIM:604169|MedGen:CN169374 Cardiomyopathy|Left_ventricular_noncompaction_1|not_specified Benign . . . 0.0100 . intronic . 0.0074255 . . . . . . . . 0.0105 Name\x3d96.677582 1 18 32459704 DTNA A G 53 0.262181 0.2115 . . . . . . . 0.2213 . intronic . 0.221679 . . . . . . . . 0.2241 Name\x3d95.039333 1 18 32470291 DTNA G A 48 0.266973 0.1985 2.442 MedGen:CN169374 not_specified Benign . . . 0.2558 nonsynonymous_SNV exonic . 0.0590484 . . . . . . . . . Name\x3d99.706037 2.5 18 32470459 DTNA C T 45 0.155551 0.1925 . . . . . . . . . UTR3 . 0.0304136 . . . . . . . . . Name\x3d98.999299 1 18 33935432 FHOD3 G A 1 0.000399361 0.0004 . . . . . . . . . intronic . 0.0003458 . . . . . . . . . . 2 18 33952806 FHOD3 C A 1 0.000199681 6.482e-05 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 18 34081849 FHOD3 A G 77 0.225439 0.4393 . . . . . . . 0.4256 . intronic . 0.267855 . . . . . . . . 0.4057 . -2 18 34092327 FHOD3 G C 15 0.0934505 0.0653 . . . . . . . . . intronic . 0.0167462 . . . . . . . . . . -2 18 34156497 FHOD3 A G 1 0.0660942 0.0051 0.448 . . . . . . 0.0051 nonsynonymous_SNV exonic . 0.0300449 T . . . B T . . 0.0043 . -0.5 18 34182800 FHOD3 A G 73 0.257188 0.3024 . . . . . . . . . intronic . 0.0562606 . . . . . . . . . . -2 18 34191954 FHOD3 G A 1 0.000199681 . 3.056 . . . . . . . nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . . 3.5 18 34205415 FHOD3 T C 30 0.128195 0.1407 . . . . . . . . . intronic . 0.0266491 . . . . . . . . . . -2 18 34205551 FHOD3 C T 14 0.0872604 0.0556 2.410 . . . . . . 0.0596 synonymous_SNV exonic . 0.0643135 . . . . . . . . 0.0604 Name\x3d95.820949 -1 18 34232543 FHOD3 G A 7 0.0165735 0.0255 -0.091 . . . . . . 0.0378 nonsynonymous_SNV exonic . 0.0063971 . . . . . . . . . . -0.5 18 34232610 FHOD3 C T 57 0.319489 0.2828 1.357 . . . . . . 0.3151 nonsynonymous_SNV exonic . 0.0853482 . . . . . . . . . . 0.5 18 34232657 FHOD3 G A 38 0.0702875 0.1714 -0.089 . . . . . . 0.1381 nonsynonymous_SNV exonic . 0.0329427 . . . . . . . . . . -0.5 18 34232952 FHOD3 T C 56 0.3125 0.2815 . . . . . . . . . intronic . 0.302021 . . . . . . . . . . -1 18 34233231 FHOD3 C T 103 0.571086 0.4989 . . . . . . . . . intronic . 0.524474 . . Name\x3dOREG1859776|N/A|RUNX1|PAZAR . . . . . . . -1 18 34233356 FHOD3 C G 1 0.00299521 . 2.577 . . . . . . . nonsynonymous_SNV exonic . 0.0001682 . . Name\x3dOREG1859776|N/A|RUNX1|PAZAR . . . . . . . 2.5 18 34238093 FHOD3 A C 1 0.000199681 . 1.407 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B D . . . . 2 18 34238217 FHOD3 G A 1 0.00299521 . . . . . . . . . . intronic . 0.0008837 . . . . . . . . . . 0 18 34261559 FHOD3 T A 100 0.460264 0.4880 . . . . . . . 0.5024 . intronic . 0.449315 . . . . . . . . 0.4265 . 0 18 34261581 FHOD3 AG A 145 0.63099 0.6529 . . . . . . . 0.6622 . intronic . 0.0184344 . . . . . . . . 0.6421 . -2 18 34273111 FHOD3 C G 12 0.0107827 0.0340 . . . . Name\x3dENSR00000573257|Promoter . . . . intronic . 0.0045989 . . Name\x3dOREG1510214|N/A|EGR1|PAZAR . . . . . . Name\x3d97.211657 1 18 34273149 FHOD3 A C 1 0.000399361 0.0018 . . . . Name\x3dENSR00000573257|Promoter . . 0.0028 . intronic . 0.0013389 . . Name\x3dOREG1510214|N/A|EGR1|PAZAR . . . . . 0.0013 Name\x3d98.127833 3 18 34273279 FHOD3 C G 44 0.0902556 0.1758 1.318 . . . Name\x3dENSR00000573257|Promoter . . 0.1792 nonsynonymous_SNV exonic . 0.136745 T . Name\x3dOREG1510214|N/A|EGR1|PAZAR . P T . . 0.1810 . 1.5 18 34273440 FHOD3 C T 103 0.476238 0.4874 . . . . Name\x3dENSR00000573257|Promoter . . . . intronic . 0.0927543 . . Name\x3dOREG1510214|N/A|EGR1|PAZAR . . . . . . . 0 18 34289142 FHOD3 A G 11 0.014976 0.0325 -1.504 . . . . . . 0.0389 nonsynonymous_SNV exonic . 0.027891 T . . . B T . . 0.0335 . -0.5 18 34289245 FHOD3 C T 1 0.000199681 6.483e-05 . . . . . . . 0.0002 synonymous_SNV exonic . 9.06e-05 . . . . . . . . . Name\x3d95.843120 3 18 34289285 FHOD3 G T 3 0.00579073 0.0219 4.122 . . . . . . 0.0195 nonsynonymous_SNV exonic rs61735998|Resting-heart-rate|0.97629|2E-6|PMID:29769521 0.0141137 T . . . B D . . 0.0236 Name\x3d95.391942 -1 18 34289364 FHOD3 G A 44 0.0760783 0.1756 . . . . . . . 0.1808 . intronic . 0.12721 . . . . . . . . 0.1782 . -2 18 34297753 FHOD3 C T 70 0.419329 0.3785 . . . . . . . 0.3667 . intronic . 0.377253 . . Name\x3dOREG1269680|N/A|SMARCA4|PAZAR . . . . . 0.3933 . -1 18 34298542 FHOD3 G A 1 0.00379393 0.0017 3.308 . . . . . . 0.0018 nonsynonymous_SNV exonic . 0.0023932 T . Name\x3dOREG1269680|N/A|SMARCA4|PAZAR . P T . . 0.0023 Name\x3d95.805976 3.5 18 34298732 FHOD3 G C 65 0.395367 0.3393 . . . . Name\x3dENSR00001017391|Enhancer . . . . intronic . 0.068893 . . Name\x3dOREG1269680|N/A|SMARCA4|PAZAR . . . . . . . 1 18 34298737 FHOD3 G A 1 0.000199681 . . . . . Name\x3dENSR00001017391|Enhancer . . . . intronic . 3.84e-05 . . Name\x3dOREG1269680|N/A|SMARCA4|PAZAR . . . . . . . 4 18 34310668 FHOD3 C T 64 0.319489 0.3375 . . . . . . . 0.3199 synonymous_SNV exonic . 0.33768 . . . . . . . . 0.3427 . -1 18 34322621 FHOD3 C A 1 0.000199681 0.0007 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 0 18 34322877 FHOD3 G A 2 0.00139776 0.0036 . . . . . . . . . intronic . 0.0004981 . . . . . . . . . . 0 18 34324091 FHOD3 G A 64 0.376198 0.3175 3.145 . . . . . . 0.3022 nonsynonymous_SNV exonic . 0.336212 T . . . B T . . 0.3263 Name\x3d95.058529 1.5 18 34324190 FHOD3 C T 63 0.302117 0.3168 . . . . . . . 0.3018 . intronic . 0.313269 . . . . . . . . 0.3251 . -1 18 34335047 FHOD3 C T 1 0.000798722 . . . . . . . . 0.0003 . intronic . 0.0004398 . . Name\x3dOREG1269681|N/A|SMARCA4|PAZAR . . . . . 0.0002 . 1 18 34340773 FHOD3 T C 1 0.000199681 6.483e-05 . . . . . . . 0.0001 . intronic . 4.53e-05 . . . . . . . . 0.0002 . 2 18 34349434 FHOD3 C T 1 0.000399361 0.0012 . . . . . . . 0.0008 . intronic . 0.0005369 . . . . . . . . 0.0006 . 0 19 16591464 CALR3 G A 160 0.650559 0.7046 . MedGen:C3151266|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.7092 synonymous_SNV exonic . 0.69243 . . . . . . . . 0.7043 Name\x3d99.478238 2 19 16593198 CALR3 A G 55 0.175319 0.0005 . . . . . . . . . intronic . 0.0001537 . . . . . . . . . . 0 19 16593203 CALR3 A G 105 0.43131 0.6979 . . . . . . . . . intronic . 0.238359 . . . . . . . . . . 0 19 16593213 CALR3 AAAAC A 55 0.175319 . . . . . . . . . . intronic . 0.0056791 . . . . . . . . . . 0 19 16593318 CALR3 C T 1 0.00539137 0.0203 . MedGen:C3151266|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|Cardiovascular_phenotype|not_provided Benign . . . 0.0159 synonymous_SNV exonic . 0.0122637 . . . . . . . . 0.0167 Name\x3d98.999780 1 19 16593415 CALR3 G A 160 0.660144 0.7044 . . . . . . . 0.7095 . intronic . 0.693367 . . . . . . . . 0.7048 . 1 19 16593573 CALR3 G A 33 0.144569 0.1677 . MedGen:C3151266|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.1664 synonymous_SNV exonic . 0.146156 . . . . . . . . 0.1692 Name\x3d99.802942 1 19 16594967 CALR3 A G 160 0.659744 0.6998 . . . . . . . 0.7082 . intronic . 0.003758 . . . . . . . . 0.7026 . 0 19 16594979 CALR3 C T 162 0.692492 0.6959 . . . . . . . . . intronic . 0.0001294 . . . . . . . . . . 0 19 16594989 CALR3 C T 111 0.510583 0.0021 . . . . . . . . . intronic . 0.0002305 . . . . . . . . . . 0 19 16601154 CALR3 T C 159 0.603035 0.6990 . . . . . . . 0.7033 . intronic . 0.651324 . . . . . . . . 0.6966 . 0 19 16601168 CALR3 G A 29 0.114018 0.1466 . MedGen:C3151266|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_provided Benign . . . 0.1379 . intronic . 0.121493 . . . . . . . . 0.1415 . 0 19 16601194 CALR3 C T 159 0.658946 0.7032 . MedGen:C3151266|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.7085 synonymous_SNV exonic . 0.695373 . . . . . . . . 0.7038 Name\x3d99.248025 1 19 16601358 CALR3 G C 1 0.000199681 . 6.383 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . D D . . . Name\x3d99.778717 8 19 16601411 CALR3 A T 4 0.0355431 0.0558 . . . . . . . 0.0534 . intronic . 0.047121 . . . . . . . . 0.0564 Name\x3d98.114091 2 19 16606589 CALR3 A G 1 0.000199681 . 6.072 . . . Name\x3dENSR00000107764|Promoter . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1787468|N/A|RBL2|PAZAR . P D . . . Name\x3d99.915669 10 19 16606727 CALR3 G A 4 0.00179712 0.0067 . . . . Name\x3dENSR00000107764|Promoter . . . . intronic . 0.0009379 . . . . . . . . . Name\x3d99.508743 8 19 16606742 CALR3 G C 193 0.802316 0.8724 . . . . Name\x3dENSR00000107764|Promoter . . . . intronic . 0.163801 . . . . . . . . . Name\x3d99.373565 4 19 16606766 CALR3 G C 193 0.810104 0.8723 . . . . Name\x3dENSR00000107764|Promoter . . . . intronic . 0.0001921 . . . . . . . . . Name\x3d99.197480 4 19 16606821 CALR3 C T 1 0.000798722 0.0023 . . . . Name\x3dENSR00000107764|Promoter . . 0.0056 . intronic . 0.0017335 . . Name\x3dOREG1822681|N/A|RBL2|PAZAR . . . . . 0.0028 Name\x3d99.794574 5 19 35521779 SCN1B G T 63 0.148163 0.2040 . EFO:EFO_0005137,MedGen:C2748542|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374 Cardiac_conduction_defect,_nonspecific|Brugada_syndrome|Generalized_epilepsy_with_febrile_seizures_plus|not_specified Benign Name\x3dENSR00001023991|Promoter . . 0.5 . intronic . 0.024534 . . Name\x3dOREG1175688|N/A|TFAP2C|PAZAR . . . . . . Name\x3d98.241974 1 19 35524558 SCN1B C T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.510107 3 19 35524824 SCN1B T C 112 0.377596 0.3890 -0.608 MedGen:CN169374 not_specified Benign . . . 0.4642 nonsynonymous_SNV exonic . 0.295397 T . . . B D . . 0.3721 Name\x3d98.418747 -1 19 35524836 SCN1B G A 1 0.000399361 0.0038 1.067 MedGen:C1858672,OMIM:604233|MedGen:C2748541,OMIM:612838|MedGen:C3809311,OMIM:615377|MedGen:C4479236,OMIM:617350|MedGen:CN169374|MedGen:CN517202 Generalized_epilepsy_with_febrile_seizures_plus,_type_1|Brugada_syndrome_5|Atrial_fibrillation,_familial,_13|Epileptic_encephalopathy,_early_infantile,_52|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0073 nonsynonymous_SNV exonic . 0.0022509 T . . . B T . . 0.0047 Name\x3d98.498282 2.5 19 35524939 SCN1B C A 48 0.127396 0.1679 3.869 MedGen:CN169374 not_specified Benign . . . 0.1928 nonsynonymous_SNV exonic . 0.0493008 T . . . B D . . 0.1455 Name\x3d99.032540 -1 19 35524944 SCN1B G C 48 0.119209 0.1676 1.238 MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Benign . . . 0.1932 nonsynonymous_SNV exonic . 0.0480912 T . . . B D . . 0.1454 Name\x3d98.223272 -1 19 35530073 SCN1B T C 7 0.0155751 0.0294 . EFO:EFO_0005137,MedGen:C2748542|Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2748541,OMIM:612838|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374|MedGen:CN230736 Cardiac_conduction_defect,_nonspecific|Seizures|Brugada_syndrome|Brugada_syndrome_5|Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0305 synonymous_SNV exonic . 0.0241459 . . . . . . . . 0.0321 Name\x3d99.483376 -1 19 35530482 SCN1B C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 19 35530514 SCN1B T G 3 0.0081869 0.0154 . . . . Name\x3dENSR00000588898|Promoter . . 0.0140 . intronic . 0.0118692 . . . . . . . . 0.015 Name\x3d98.420194 0 19 35530525 SCN1B C A 3 0.00798722 0.0155 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000588898|Promoter . . 0.0140 . intronic . 0.0119145 . . . . . . . . 0.0151 Name\x3d99.185828 0 19 35530580 SCN1B G A 2 0.000399361 0.0005 5.991 Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|MedGen:C2748541,OMIM:612838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Seizures|Brugada_syndrome_5|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000588898|Promoter . . 0.0006 nonsynonymous_SNV exonic . 0.0004075 D . . . D D . . 0.0005 Name\x3d99.541412 8 19 35530586 SCN1B G A 1 0.000199681 6.49e-05 5.849 MedGen:C2748541,OMIM:612838|MedGen:CN169374 Brugada_syndrome_5|not_specified Uncertain_significance Name\x3dENSR00000588898|Promoter . . 1.842e-05 nonsynonymous_SNV exonic . 2.59e-05 D . . . D D . . . Name\x3d99.682159 10 19 35530690 SCN1B C G 16 0.0383387 0.0987 . . . . Name\x3dENSR00000588898|Promoter . . . . intronic . 0.0119791 . . . . . . . . . Name\x3d98.412912 0 19 46273462 na CCAGCAGCAGCAGCAGCAGCAGCAGCAG C 181 0.891573 0.1490 . . . . Name\x3dENSR00000110263|Promoter . . . . ncRNA_intronic . 0.0001537 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1772482|N/A|MITF|PAZAR,OREG1197685|N/A|TFAP2C|PAZAR . . . . . . . 0 19 46273522 na G T 1 0.000399361 0.0003 . . . . Name\x3dENSR00000110263|Promoter . . . . ncRNA_intronic . 0.0003074 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1772482|N/A|MITF|PAZAR,OREG1197685|N/A|TFAP2C|PAZAR . . . . . . Name\x3d95.556010 5 19 46273627 na G A 2 0.000399361 0.0010 . . . . Name\x3dENSR00000110263|Promoter . . . . ncRNA_intronic . 0.0008837 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1772482|N/A|MITF|PAZAR,OREG1197685|N/A|TFAP2C|PAZAR . . . . . . Name\x3d98.773124 3 19 46274171 na A C 110 0.608227 0.4695 . . . . Name\x3dENSR00000110263|Promoter . . . . ncRNA_intronic . 0.0001537 . . Name\x3dOREG1197685|N/A|TFAP2C|PAZAR,OREG1810922|N/A|RBL2|PAZAR,OREG1520271|N/A|EGR1|PAZAR,OREG1826234|N/A|RBL2|PAZAR,OREG1628849|N/A|FOS|PAZAR . . . . . . Name\x3d96.641974 1 19 46274357 na G A 2 0.00299521 0.0147 . . . . Name\x3dENSR00000110263|Promoter . . 0.0231 . ncRNA_intronic . 0.0034411 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1911343|N/A|STAT1|PAZAR . . . . . 0.0125 Name\x3d99.318060 1 19 46274392 na G C 14 0.0543131 0.0550 . . . . Name\x3dENSR00000110263|Promoter . . 0.1435 . ncRNA_intronic . 0.0215974 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR . . . . . . Name\x3d97.711432 1 19 46274553 na G A 11 0.0177716 0.0525 0.279 . . . Name\x3dENSR00000110263|Promoter . . 0.0595 . ncRNA_intronic . 0.03857 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR . . . . . 0.0519 Name\x3d97.860318 1 19 46274624 DMPK G A 1 0.00559105 0.0168 3.047 . . . Name\x3dENSR00000110263|Promoter . . 0.0160 nonsynonymous_SNV exonic . 0.0115134 T . Name\x3dOREG1520271|N/A|EGR1|PAZAR . P T . . 0.0149 Name\x3d99.081705 2.5 19 46274650 DMPK G A 1 0.000199681 . . . . . Name\x3dENSR00000110263|Promoter . Name\x3dMIMAT0000752|hsa-miR-328-3p|Experimental 1.859e-05 synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR . . . . . . Name\x3d99.142812 6 19 46274701 na G A 1 0.000199681 . . . . . Name\x3dENSR00000110263|Promoter . . 1.875e-05 . ncRNA_intronic . 1.29e-05 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR . . . . . . Name\x3d99.172526 5 19 46274972 na A C 110 0.576078 0.4674 . . . . Name\x3dENSR00000110263|Promoter . . 0.4603 . ncRNA_exonic . 0.488474 . . . . . . . . 0.4529 Name\x3d96.522029 0 19 46275976 DMPK G C 22 0.145168 0.1269 2.333 MedGen:CN169374 not_specified Benign . . . 0.1169 nonsynonymous_SNV exonic . 0.137463 T . . . B T . . 0.1129 Name\x3d99.809992 0.5 19 46276056 DMPK C A 110 0.53754 0.4681 . . . . . . . 0.4737 . intronic . 0.442232 . . . . . . . . 0.4545 . -2 19 46278189 DMPK G A 1 0.00559105 0.0001 . . . . Name\x3dENSR00001025154|TF_binding_site . . 0.0001 . intronic . 0.0019211 . . . . . . . . . Name\x3d98.839230 2 19 46280783 DMPK C T 1 0.000199681 . . . . . . . . 1.853e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.673643 3 19 46280917 DMPK G A 2 0.00599042 0.0035 . MedGen:CN517202 not_provided Likely_benign . . . 0.0043 . intronic . 0.0056856 . . . . . . . 0.002 0.0044 Name\x3d98.705398 1 19 46281893 DMPK C T 1 0.000199681 0.0002 3.368 . . . . . . 0.0004 nonsynonymous_SNV exonic . 0.0002005 T . . . P D . . 0.0002 Name\x3d99.838515 3 19 46282503 DMPK A C 23 0.122604 0.1352 . . . . Name\x3dENSR00000110267|Promoter . . 0.1222 . intronic . 0.134539 . . Name\x3dOREG1556196|N/A|ETS1|PAZAR . . . . . 0.1176 Name\x3d99.312514 1 19 46282683 DMPK G A 3 0.0127796 0.0084 . . . . Name\x3dENSR00000110267|Promoter . . 0.0085 . intronic . 0.0102651 . . . . . . . . 0.0093 Name\x3d99.496527 0 19 46285498 DMPK G A 1 0.000199681 . 2.577 . . . Name\x3dENSR00000110267|Promoter . . 0.0001 nonsynonymous_SNV exonic . 4.53e-05 T . Name\x3dOREG1186606|N/A|TFAP2C|PAZAR . B T . . . Name\x3d99.696254 6.5 19 47104678 CALM3 C A 4 0.00379393 0.0169 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000110393|Promoter . . 0.0295 . UTR5 . 0.0047218 . . Name\x3dOREG1249839|N/A|SMARCA4|PAZAR,OREG1609468|N/A|FOXP1|PAZAR,OREG1944831|N/A|ZNF263|PAZAR . . . . . 0.0106 . 0 19 47104779 CALM3 A C 5 0.0249601 0.0239 . . . . Name\x3dENSR00000110393|Promoter . . . . intronic . 0.0226295 . . Name\x3dOREG1249839|N/A|SMARCA4|PAZAR,OREG1944831|N/A|ZNF263|PAZAR . . . . . . . 0 19 47109011 CALM3 T C 152 0.843051 0.6929 . . . . . . . . . intronic . 0.736207 . . . . . . . . 0.6911 . -2 19 47109190 CALM3 G A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 19 47111663 CALM3 T C 152 0.846446 0.6768 . . . . . . . . . intronic . 0.140082 . . Name\x3dOREG1487862|N/A|EGR1|PAZAR . . . . . . . -1 19 47111722 CALM3 CT C 1 0.000798722 0.0005 . MedGen:CN169374 not_specified Likely_benign . . . 0.0009 . intronic . 0.0007374 . . Name\x3dOREG1487862|N/A|EGR1|PAZAR . . . . . 0.0038 . 1 19 47112159 CALM3 G A 1 0.000199681 . . . . . . . . 1.911e-05 synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1487862|N/A|EGR1|PAZAR . . . . . . Name\x3d97.259635 4 19 47112357 CALM3 CCT C 3 0.00599042 0.0219 . MedGen:CN169374 not_specified Likely_benign . . . 0.0176 . intronic . 0.0003428 . . Name\x3dOREG1487862|N/A|EGR1|PAZAR . . . . . 0.0251 . -1 19 47112464 CALM3 C T 1 0.000399361 . . . . . . . . . . UTR3 . 0.0001153 . . . . . . . . . Name\x3d96.280663 3 19 47258674 FKRP C T 55 0.103834 0.2514 . MedGen:CN169374 not_specified Benign . . . 0.2908 . UTR5 . 0.169791 . . Name\x3dOREG1506101|N/A|EGR1|PAZAR . . . . . 0.2281 Name\x3d99.307915 4 19 47258842 FKRP C T 32 0.15016 0.1365 . MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified|not_provided Benign . . . 0.1644 synonymous_SNV exonic . 0.133756 . . Name\x3dOREG1506101|N/A|EGR1|PAZAR . . . . . 0.1418 Name\x3d99.335022 4 19 47258956 FKRP C T 2 0.0061901 0.0135 . MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374 Walker-Warburg_congenital_muscular_dystrophy|not_specified Benign . . . 0.0225 synonymous_SNV exonic . 0.0091719 . . Name\x3dOREG1506101|N/A|EGR1|PAZAR . . . . . 0.0134 Name\x3d99.529250 2 19 47259048 FKRP C G 9 0.0061901 0.0116 0.398 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374|MedGen:CN517202 Walker-Warburg_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0409 nonsynonymous_SNV exonic . 0.0057826 D . Name\x3dOREG1506101|N/A|EGR1|PAZAR . B T . . 0.0106 Name\x3d99.369872 2 19 47259134 FKRP C A 4 0.00259585 0.0048 1.067 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374|MedGen:CN517202 Walker-Warburg_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0134 nonsynonymous_SNV exonic . 0.0018434 D . Name\x3dOREG1506101|N/A|EGR1|PAZAR . B T . . 0.0049 Name\x3d99.256031 2 19 47259488 FKRP G A 2 0.000399361 . 1.329 . . . . . . . nonsynonymous_SNV exonic . 1.29e-05 D . Name\x3dOREG1506101|N/A|EGR1|PAZAR . B T . . . Name\x3d99.216862 6 19 49661112 TRPM4 G A 61 0.150359 0.2865 . MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871 not_specified|Progressive_familial_heart_block Benign/Likely_benign Name\x3dENSR00000110849|Promoter . . 0.3047 . UTR5 . 0.0014877 . . Name\x3dOREG1195783|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.751585 3 19 49661274 TRPM4 T G 1 0.000199681 . . . . . Name\x3dENSR00000110849|Promoter . . . . intronic . 3.84e-05 . . Name\x3dOREG1195783|N/A|TFAP2C|PAZAR . . . . . . Name\x3d97.772546 7 19 49661547 TRPM4 A G 29 0.223642 0.1320 . . . . Name\x3dENSR00000110849|Promoter . . 0.1416 . intronic . 0.173814 . . Name\x3dOREG1195783|N/A|TFAP2C|PAZAR . . . . . 0.1345 Name\x3d98.598376 3 19 49661582 TRPM4 T C 180 0.599441 0.8594 . . . . Name\x3dENSR00000110849|Promoter . . . . intronic . 0.0001153 . . Name\x3dOREG1195783|N/A|TFAP2C|PAZAR . . . . . 0.8564 Name\x3d99.199773 3 19 49669486 TRPM4 C G 1 0.0319489 0.0016 . MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871 not_specified|Progressive_familial_heart_block Benign/Likely_benign . . . 0.0036 . intronic . 0.0104074 . . . . . . . . 0.0026 Name\x3d98.912389 3 19 49671118 TRPM4 C T 1 0.0207668 . . . . . . . . . . intronic . 0.0009379 . . . . . . . . . . 0 19 49671151 TRPM4 G A 72 0.338858 0.1345 . . . . . . . 0.3313 . intronic . 0.0008085 . . . . . . . . 0.3301 . 0 19 49671207 TRPM4 G A 6 0.0159744 0.0115 0.454 MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign . . . 0.0219 nonsynonymous_SNV exonic . 0.0197151 T . . . B T . . 0.0187 Name\x3d99.049363 2.5 19 49671212 TRPM4 T G 6 0.0159744 0.0114 . MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign . . . 0.0219 synonymous_SNV exonic . 0.0031242 . . . . . . . . 0.0187 Name\x3d99.096345 1 19 49671281 TRPM4 G A 12 0.0910543 0.0406 . MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0504 synonymous_SNV exonic . 0.060355 . . . . . . . . 0.0423 Name\x3d98.429518 1 19 49671482 TRPM4 C T 1 0.00219649 0.0039 . . . . . . . 0.0053 . intronic . 0.0033764 . . . . . . . . 0.0051 . 2 19 49671507 TRPM4 G A 2 0.0119808 0.0294 . MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871 Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block Benign/Likely_benign . . . 0.0227 . intronic . 0.0203814 . . . . . . 0.0012 0.006 0.0257 Name\x3d96.899522 1 19 49671771 TRPM4 C T 6 0.0159744 0.0315 . . . . . . . 0.0221 . intronic . 0.0199027 . . . . . . . . 0.0186 . 2 19 49671893 TRPM4 C T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.469685 5 19 49671980 TRPM4 G A 6 0.0157748 0.0313 . MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0443 synonymous_SNV exonic . 0.0187643 . . . . . . . . 0.0185 Name\x3d99.145692 3 19 49674722 TRPM4 G A 4 0.00359425 0.0081 . . . . . . . 0.0098 . intronic . 0.0058343 . . . . . . . . 0.0070 . 6 19 49674846 TRPM4 C T 1 0.000798722 0.0073 . MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0044 synonymous_SNV exonic . 0.003247 . . . . . . . . 0.0056 Name\x3d99.454331 3 19 49675017 TRPM4 G T 10 0.0597045 0.0382 . MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0460 synonymous_SNV exonic . 0.0467782 . . . . . . . . 0.0372 Name\x3d99.315756 1 19 49675038 TRPM4 G GGGGC 2 0.0279553 0.0017 . MedGen:CN230454,Orphanet:ORPHA871 Progressive_familial_heart_block Likely_benign . . . 0.0030 . intronic . 0.0003428 . . . . . . . . 0.0023 Name\x3d98.801509 1 19 49675233 TRPM4 C T 12 0.0914537 0.0406 . . . . . . . 0.0494 . intronic . 0.0578259 . . . . . . . . 0.0421 . 0 19 49675366 TRPM4 G A 1 0.000399361 6.493e-05 4.520 MedGen:C1970298,OMIM:604559|MedGen:CN517202 Progressive_familial_heart_block_type_1B|not_provided Conflicting_interpretations_of_pathogenicity . . . 3.686e-05 . splicing . 2.59e-05 . . . . . . 1.0000 0.936 . Name\x3d99.216093 14 19 49675439 TRPM4 A G 1 0.000199681 0.0012 . . . . . . . . . intronic . 0.0002005 . . . . . . . . . . 2 19 49675456 TRPM4 C T 6 0.00599042 0.0317 . . . . . . . . . intronic . 0.0024838 . . . . . . . . . . 2 19 49684586 TRPM4 T A 5 0.0145767 0.0642 . MedGen:CN169374 not_specified Benign . . . 0.0571 . intronic . 0.0405752 . . . . . . . . 0.0581 . 1 19 49684787 TRPM4 CTTTTTTTTTT C 6 0.0181709 0.0367 . . . . . . . . . intronic . 0.0026126 . . . . . . . . . . 0 19 49685794 TRPM4 C T 1 0.000199681 0.0002 . . . . . . . 0.0009 . intronic . 0.0004916 . . . . . . . . 0.0003 . 2 19 49685865 TRPM4 G A 1 0.000399361 0.0002 6.830 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1970298,OMIM:604559|MedGen:CN169374 Brugada_syndrome|Progressive_familial_heart_block_type_1B|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0006 nonsynonymous_SNV exonic . 0.0004981 D . . . P D . . 0.0010 Name\x3d99.352157 6 19 49686028 TRPM4 CCAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT C 1 0.00439297 0.0112 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1970298,OMIM:604559|MedGen:CN230736 Brugada_syndrome|Progressive_familial_heart_block_type_1B|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0110 nonframeshift_deletion exonic . 0.0002264 . . . . . . . . 0.0098 Name\x3d99.200078,99.310502,99.196968,99.262524,99.302314 1 19 49686146 TRPM4 G A 1 0.000399361 0.0016 6.169 EFO:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,MeSH:D016757,MedGen:C0085298,SNOMED_CT:95281009|MedGen:C1970298,OMIM:604559|MedGen:CN169374 Sudden_cardiac_death|Progressive_familial_heart_block_type_1B|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0018 stopgain exonic . 0.0013195 . . . . . . . . 0.0011 Name\x3d99.104700 11 19 49691870 TRPM4 C T 3 0.00878594 0.0060 . . . . . . . 0.0061 . intronic . 0.0078136 . . Name\x3dOREG1518156|N/A|EGR1|PAZAR . . . . . 0.0059 . 7 19 49691871 TRPM4 G A 1 0.00119808 0.0027 . . . . . . . 0.0025 . intronic . 0.0022251 . . Name\x3dOREG1518156|N/A|EGR1|PAZAR . . . . . 0.0045 . 3 19 49691898 TRPM4 G A 1 0.000399361 0.0003 2.616 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1970298,OMIM:604559|MedGen:CN169374 Brugada_syndrome|Progressive_familial_heart_block_type_1B|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0007 nonsynonymous_SNV exonic . 0.0005239 T . Name\x3dOREG1518156|N/A|EGR1|PAZAR . B T 0.0689 0.292 0.0010 Name\x3d99.382074 5.5 19 49692171 TRPM4 T G 1 0.000199681 6.488e-05 . . . . . . . . . intronic . 6.5e-06 . . Name\x3dOREG1518156|N/A|EGR1|PAZAR . . . . . . . 5 19 49692373 TRPM4 C G 64 0.34365 0.2948 . . . . . . . 0.3180 . intronic . 0.312984 . . . . . . . . 0.3220 . 0 19 49694029 TRPM4 G A 2 0.00339457 0.0029 -1.018 MedGen:C1970298,OMIM:604559|MedGen:CN169374 Progressive_familial_heart_block_type_1B|not_specified Benign . . . 0.0018 nonsynonymous_SNV exonic . 0.0019663 T . . . B T . 0.008 0.0017 Name\x3d97.662850 4.5 19 49699866 TRPM4 C T 16 0.11242 0.0464 . MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign . . Name\x3dMIMAT0000101|hsa-miR-103a-3p|Experimental,MIMAT0000104|hsa-miR-107|Experimental 0.1031 synonymous_SNV exonic . 0.0482982 . . . . . . . . 0.0411 Name\x3d99.734596 2 19 49700017 TRPM4 G A 1 0.00179712 0.0009 3.333 MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0046 nonsynonymous_SNV exonic . 0.0007244 T . . . P D . . 0.0016 Name\x3d99.390722 3 19 49703799 TRPM4 T G 2 0.00259585 0.0063 . . . . . . . . . intronic . 0.0008085 . . . . . . . . . . 2 19 49713732 TRPM4 G A 1 0.000599042 0.0010 . . . . Name\x3dENSR00000592527|Promoter . . . . intronic . 0.0009605 . . . . . . . . . Name\x3d97.914772 4 19 49714732 TRPM4 C G 3 0.0203674 0.0030 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000592527|Promoter . . 0.0041 . intronic . 0.0081047 . . Name\x3dOREG1729593|N/A|HNF4A|PAZAR . . . . . 0.0027 Name\x3d96.824986 3 19 49714839 TRPM4 C T 3 0.00199681 0.0023 . MedGen:CN230454,Orphanet:ORPHA871 Progressive_familial_heart_block Uncertain_significance Name\x3dENSR00000592527|Promoter . . . . UTR3 . 0.0005757 . . . . . . . . 0.0016 . 7 19 49714878 TRPM4 T A 1 0.000199681 . . . . . Name\x3dENSR00000592527|Promoter . . . . UTR3 . 3.84e-05 . . . . . . . . . . 5 19 55665349 TNNI3 A G 1 0.00159744 0.0020 . . . . . . . 0.0015 . intronic . 0.0012807 . . . . . . . . 0.0014 . 2 19 55665410 TNNI3 C T 20 0.0477236 0.0644 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0724 unknown exonic . 0.0637314 . . . . . . . . 0.0658 Name\x3d99.946490 1 19 55665584 TNNI3 A C 214 1 1 . Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN239479 Ciliary_dyskinesia|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Nemaline_Myopathy,_Recessive Benign/Likely_benign Name\x3dENSR00001026301|Enhancer . . 1 . intronic . 0.938261 . . . . . . 0.0052 0.15 . Name\x3d98.896030 2 19 55666036 TNNI3 G A 1 0.000199681 . . . . . Name\x3dENSR00001026302|Enhancer . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d99.325848 6 19 55666281 TNNI3 C G 1 0.000998403 0.0005 . . . . Name\x3dENSR00001026302|Enhancer . . . . intronic . 0.0001921 . . . . . . . . . . 3 19 55667500 TNNI3 A T 1 0.137181 0.0280 . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 0.0001153 . . Name\x3dOREG1518091|N/A|EGR1|PAZAR . . . . . . Name\x3d98.735592 3 19 55667647 TNNI3 C A 21 0.0227636 0.0549 2.843 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000111601|Promoter . . 0.0653 unknown exonic . 3.88e-05 . . Name\x3dOREG1518091|N/A|EGR1|PAZAR . . . . . 0.0505 Name\x3d99.960088 3 19 55667871 TNNI3 C A 1 0.000199681 6.494e-05 . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 0.0002305 . . Name\x3dOREG1518091|N/A|EGR1|PAZAR,OREG1909172|N/A|STAT1|PAZAR,OREG0396464|N/A|EGR1|JASPAR . . . . . . Name\x3d99.867355 7 19 55667958 TNNI3 C T 2 0.076877 0.0019 . 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 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Benign/Likely_benign Name\x3dENSR00000111601|Promoter . . 0.0060 . intronic . 0.0168627 . . Name\x3dOREG1909172|N/A|STAT1|PAZAR,OREG1518091|N/A|EGR1|PAZAR . . . . . 0.0036 Name\x3d99.154740 3 19 55668105 TNNI3 C T 1 0.000199681 . . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 3.84e-05 . . Name\x3dOREG1909172|N/A|STAT1|PAZAR,OREG1518091|N/A|EGR1|PAZAR . . . . . . Name\x3d99.937105 7 19 55668116 TNNI3 T C 1 0.000199681 6.496e-05 . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 3.84e-05 . . Name\x3dOREG1518091|N/A|EGR1|PAZAR . . . . . . Name\x3d99.855055 7 19 55668397 TNNI3 C T 20 0.0477236 0.065 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000111601|Promoter . . 0.1308 . intronic . 0.0492814 . . . . . . . . 0.0622 Name\x3d99.853733 2 19 55668509 TNNI3 A T 51 0.458067 0.1971 . 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 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Benign/Likely_benign Name\x3dENSR00000111601|Promoter . . 0.2447 . intronic . 0.283651 . . . . . . 0.0021 0.14 0.1948 Name\x3d99.869269 2 19 55668819 TNNI3 A G 48 0.247204 0.1668 . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 0.0364032 . . Name\x3dOREG0604679|N/A|ELF1|JASPAR . . . . . . Name\x3d99.801440 3 19 55668848 TNNI3 G C 25 0.0716853 0.0613 . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 0.0136674 . . . . . . . . 0.0679 Name\x3d98.637312 2 19 55668992 TNNI3 G T 2 0.076877 0.0019 . 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 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Benign/Likely_benign . . . 0.0028 . UTR5 . 0.0224318 . . . . . . . . 0.0033 Name\x3d99.341289 1 19 55669004 TNNI3 G A 1 0.00259585 0.0088 . . . . . . . 0.0108 . UTR5 . 0.0074579 . . . . . . . . 0.0094 Name\x3d99.562649 1 19 55669055 TNNI3 G T 1 0.00519169 0.0127 . . . . . . . 0.0177 . UTR5 . 0.010375 . . . . . . . . . Name\x3d99.531250 2 1 2985808 PRDM16 T C 26 0.0347444 . . . . . Name\x3dENSR00000000391|Promoter . . 0.0003 . UTR5 . 0.0011255 . . Name\x3dOREG1506430|N/A|EGR1|PAZAR . . . . . . Name\x3d99.562232 1 1 2985885 PRDM16 C G 75 0.360224 0.4221 . . . . Name\x3dENSR00000000391|Promoter . . 0.4487 . intronic . 0.340642 . . Name\x3dOREG1506430|N/A|EGR1|PAZAR . . . . . 0.3766 Name\x3d99.516698 1 1 3102751 PRDM16 G A 1 0.00119808 0.0036 3.057 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign . . . 0.0028 nonsynonymous_SNV exonic . 0.0020504 T . . . P D . . 0.0025 Name\x3d99.609489 1 1 3102852 PRDM16 G A 1 0.00119808 0.0013 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign . . . 0.0032 synonymous_SNV exonic . 0.0019275 . . Name\x3dOREG1184902|N/A|TFAP2C|PAZAR . . . . . 0.0029 Name\x3d99.777510 2 1 3301721 PRDM16 C T 56 0.340455 0.2763 . MedGen:CN169374 not_specified Benign . . . 0.2708 synonymous_SNV exonic . 0.316684 . . . . . . . . 0.2668 Name\x3d99.546050 -1 1 3313213 PRDM16 G A 2 0.00379393 0.0079 . . . . . . . . . intronic . 0.0068772 . . . . . . . . . . 0 1 3319339 PRDM16 G A 14 0.0213658 0.0753 . MedGen:CN169374 not_specified Benign . . . 0.0693 . intronic . 0.0514806 . . . . . . . . . . -2 1 3319461 PRDM16 C T 3 0.0115815 0.0110 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign . . . 0.0101 synonymous_SNV exonic . 0.0133375 . . . . . . . . 0.0107 Name\x3d99.864227 -1 1 3319541 PRDM16 G A 1 0.000199681 . 1.963 MedGen:C3809288,OMIM:615373 Left_ventricular_noncompaction_8 Uncertain_significance . . . 3.694e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . P T . . . Name\x3d99.898933 4.5 1 3319601 PRDM16 ACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTG A 54 0.35603 0.2805 . . . . . . . 0.1615 . intronic . 0.169881 . . . . . . . . 0.1776 . -2 1 3321303 PRDM16 C T 1 0.000199681 . . . . . . . . 1.847e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . 0.0142 0.272 . Name\x3d99.833138 3 1 3322049 PRDM16 G A 1 0.000399361 0.0003 . MedGen:C3809288,OMIM:615373 Left_ventricular_noncompaction_8 Likely_benign . . . 7.79e-05 . intronic . 8.41e-05 . . . . . . 0.0001 0.002 0.0002 Name\x3d97.168282 3 1 3327904 PRDM16 G A 3 0.00199681 0.0104 . . . . . . . 0.0058 . intronic . 0.0043466 . . . . . . . . 0.0051 Name\x3d98.695749 -1 1 3327973 PRDM16 G A 2 0.00279553 0.0066 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign . . . 0.0059 synonymous_SNV exonic . 0.0039456 . . . . . . . . 0.0054 Name\x3d99.895594 1 1 3328358 PRDM16 T C 181 0.945088 0.8435 -0.543 MedGen:CN169374 not_specified Benign . . . 0.8420 nonsynonymous_SNV exonic . 0.871858 T . . . B T . . 0.8356 Name\x3d99.876291 0.5 1 3328499 PRDM16 G A 1 0.000599042 6.499e-05 0.428 . . . . . . 3.719e-05 nonsynonymous_SNV exonic . 9.06e-05 T . . . B T . . . Name\x3d99.688538 2.5 1 3328646 PRDM16 G A 1 0.000199681 . 1.763 . . . . . . 3.79e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . P T . . . Name\x3d99.892011 4.5 1 3328659 PRDM16 C T 48 0.10603 0.1399 3.424 MedGen:CN169374 not_specified Benign . . . 0.1654 nonsynonymous_SNV exonic rs2493292|Systolic-blood-pressure|0.37|1E-8|PMID:27618448 0.126176 T . . . B D . . 0.1516 Name\x3d99.885826 -1 1 3329051 PRDM16 G A 1 0.000798722 0.0015 -0.133 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0019 nonsynonymous_SNV exonic . 0.001313 T . Name\x3dOREG1506439|N/A|EGR1|PAZAR . P T . . 0.0024 Name\x3d99.765136 3.5 1 3329182 PRDM16 C T 1 0.000399361 . . . . . . . . . synonymous_SNV exonic . 9.06e-05 . . Name\x3dOREG1506439|N/A|EGR1|PAZAR . . . . . . Name\x3d99.810339 4 1 3329213 PRDM16 G A 2 0.00119808 0.0025 0.736 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign . . . 0.0057 nonsynonymous_SNV exonic . 0.0016041 T . Name\x3dOREG1506439|N/A|EGR1|PAZAR . D T . . 0.0020 Name\x3d99.670412 2 1 3329229 PRDM16 G C 1 0.000798722 0.0034 4.698 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign . . . 0.0078 nonsynonymous_SNV exonic . 0.0012742 T . Name\x3dOREG1506439|N/A|EGR1|PAZAR . D D . . 0.0019 Name\x3d99.798685 5 1 3329384 PRDM16 C T 46 0.107029 0.1381 . MedGen:CN169374 not_specified Benign . . . 0.2509 . intronic rs2493291|Rheumatoid-arthritis||2E-14|PMID:30891314 0.0647469 . . Name\x3dOREG1506439|N/A|EGR1|PAZAR . . . . . 0.1344 Name\x3d98.800923 0 1 3331099 PRDM16 C T 2 0.00199681 0.0081 . . . . . . . 0.0130 . intronic . 0.0057179 . . . . . . . . 0.0098 Name\x3d99.532652 -1 1 3331192 PRDM16 C T 1 0.000399361 . 6.541 . . . . . . 1.93e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . D D . . . Name\x3d99.699868 6 1 3334598 PRDM16 C T 1 0.00539137 0.0159 . . . . . . . 0.0149 . intronic . 0.0090749 . . . . . . . . 0.0090 . -2 1 3335162 PRDM16 A G 2 0.00319489 6.504e-05 . . . . . . . . . intronic . 0.00073 . . . . . . . . . . 0 1 3342109 PRDM16 G T 66 0.117412 0.1958 . . . . . . . 0.2241 . intronic . 0.167973 . . . . . . . . 0.2125 . -2 1 3342128 PRDM16 G A 1 0.00539137 0.0215 . MedGen:CN169374 not_specified Benign . . . 0.0178 . intronic . 0.0131434 . . . . . . . . 0.0206 Name\x3d95.477051 -1 1 3342364 PRDM16 C T 11 0.0613019 0.0384 . . . . . . . 0.0401 . intronic . 0.0397537 . . . . . . . . 0.0374 . -2 1 3342804 PRDM16 G T 61 0.379393 0.2639 . MedGen:CN169374 not_specified Benign . . . 0.2665 . intronic . 0.292745 . . Name\x3dOREG1896606|N/A|STAT1|PAZAR . . . . . 0.2724 . -1 1 3342817 PRDM16 A T 1 0.000399361 0.0003 . . . . . . . 0.0003 . intronic . 0.0001876 . . Name\x3dOREG1896606|N/A|STAT1|PAZAR . . . . . 0.0004 . 3 1 3350173 PRDM16 T C 71 0.403754 0.0367 . . . . . . . . . intronic . 0.0355041 . . . . . . . . . . -2 1 3350409 PRDM16 G A 4 0.0982428 0.0254 . . . . . . . 0.0285 . UTR3 . 0.0558466 . . . . . . . . 0.0266 Name\x3d97.118171 -1 1 11905974 na A G 10 0.0309505 0.0548 . . . . Name\x3dENSR00000347430|TF_binding_site . . . . ncRNA_intronic rs5068|Systolic-blood-pressure-(cigarette-smoking-interaction)||9E-35|PMID:29455858 0.0091202 . . . . . . . . 0.0522 . -1 1 11905981 na A G 24 0.179113 0.1377 . . . . Name\x3dENSR00000347430|TF_binding_site . . . . ncRNA_intronic . 0.0285443 . . . . . . . . 0.1496 . 0 1 11905995 na C A 10 0.0221645 0.0513 . . . . Name\x3dENSR00000347430|TF_binding_site . . . . ncRNA_intronic . 0.0093272 . . . . . . . . 0.0641 . 0 1 11906068 NPPA A G 24 0.179113 0.1381 1.595 MedGen:CN169374 not_specified Benign . . . 0.1315 stoploss exonic . 0.142514 . . . . . . . . 0.1552 Name\x3d97.212879 8 1 11906129 na G T 1 0.000199681 6.488e-05 . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 2 1 11907603 na G A 14 0.129593 0.0864 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Benign . . . 0.0730 . ncRNA_exonic . 0.0886405 . . . . . . . . 0.0877 . -1 1 11907648 NPPA C T 3 0.0734824 0.0456 0.267 . . . . . . 0.0425 nonsynonymous_SNV exonic rs5063|Psoriasis|1.1764705|4E-9|PMID:25854761 0.0558854 T . . . P T . . 0.0471 Name\x3d97.940426 0.5 1 26378362 TRIM63 C T 1 0.00219649 0.0072 . . . . . . . 0.0062 . UTR3 . 0.0045148 . . . . . . . . 0.0086 . 0 1 26378415 TRIM63 G A 1 0.000199681 . . . . . . . . 2.051e-05 . intronic . 6.5e-06 . . . . . . . . . . 2 1 26383618 TRIM63 C G 2 0.0964457 0.0019 . . . . . . . . . intronic . 0.0052393 . . . . . . . . . . -2 1 26383645 TRIM63 CCAGGGGT C 52 0.0926518 0.2515 . . . . . . . 0.2398 . intronic . 0.005388 . . . . . . . . 0.2340 . -2 1 26383647 TRIM63 A G 1 0.000199681 . . . . . . . . 9.809e-05 . intronic . 2.59e-05 . . . . . . . . . . 2 1 26383700 TRIM63 C G 1 0.000199681 . 2.499 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d97.818774 4.5 1 26383875 TRIM63 A G 62 0.260783 0.1931 . . . . . . . . . intronic . 0.044883 . . . . . . . . . . 0 1 26384013 TRIM63 A G 59 0.117412 0.1902 . . . . . . . . . intronic . 0.0349931 . . . . . . . . . . 0 1 26385003 TRIM63 T C 60 0.182308 0.1924 1.211 . . . . . . 0.2233 nonsynonymous_SNV exonic . 0.19232 T . . . B T . . 0.2165 Name\x3d97.333441 2.5 1 26385150 TRIM63 G C 60 0.156749 0.1923 . . . . . . . 0.2238 . intronic . 0.182469 . . . . . . . . 0.2160 . 0 1 26386771 TRIM63 G A 1 0.000199681 . 1.871 . . . Name\x3dENSR00000351410|TF_binding_site . . 3.683e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . 0.0001 Name\x3d98.755141 5.5 1 26387625 TRIM63 A C 50 0.11881 0.1613 . . . . . . . 0.1881 . intronic . 0.146182 . . . . . . . . 0.1777 . -1 1 26387783 TRIM63 G A 1 0.00119808 0.0023 . . . . . . . 0.0016 synonymous_SNV exonic . 0.0011449 . . . . . . . . 0.0026 Name\x3d98.084419 1 1 26392824 TRIM63 C A 5 0.0183706 0.1037 . . . . Name\x3dENSR00000351413|Promoter . . 0.0786 synonymous_SNV exonic . 0.0555814 . . . . . . . . 0.0844 Name\x3d98.071261 1 1 26393974 TRIM63 C T 3 0.0415335 0.0010 . . . . Name\x3dENSR00000351413|Promoter . . 0.0011 synonymous_SNV exonic . 0.0153297 . . . . . . . . 0.0010 Name\x3d97.728132 0 1 74701107 TNNI3K C T 4 0.00559105 0.0131 . . . . . . . 0.0126 . UTR5 . 0.0090102 . . . . . . . . 0.0136 . -2 1 74701295 na T A 214 0.976837 0.9999 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 1 74701950 na T A 63 0.351837 0.3152 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -1 1 74716310 na C A 1 0.0692891 0.0004 . . . . . . . 0.0007 . intronic . 0.0180205 . . . . . . . . 0.0010 . -2 1 74716515 na CT CTT,C 1 0.0299521 0.0746 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 1 74716524 na T C 5 0.0299521 0.0591 . . . . . . . . . intronic . 0.0171738 . . . . . . . . . . -2 1 74737269 na T C 1 0.000399361 0.0001 . . . . . . . 0.0004 . intronic . 0.0002717 . . . . . . . . 0.0003 . 2 1 74737274 na C T 3 0.00579073 0.0052 . . . . . . . 0.0086 . intronic . 0.0055433 . . . . . . . 0.002 0.0083 . 4 1 74801864 na A G 9 0.113019 0.0335 . . . . . . . 0.0459 . intronic . 0.063602 . . . . . . . . 0.0399 . -2 1 74801871 na G C 5 0.00339457 0.0096 . . . . . . . 0.0090 . intronic . 0.0061642 . . . . . . . . 0.0081 . 8 1 74801878 na G A 1 0.000199681 0.0004 . . . . . . . 0.0005 . intronic . 0.0002458 . . . . . . . . 0.0001 . 0 1 74808620 na G C 2 0.00119808 0.0025 -2.697 . . . . . . 0.0022 nonsynonymous_SNV exonic . 0.001423 T . . . B T . . 0.0016 . 1.5 1 74808631 na C T 1 0.00199681 0.0016 5.184 . . . . . . 0.0019 nonsynonymous_SNV exonic . 0.0022315 T . . . P D . . 0.0024 Name\x3d95.291731 4 1 74818872 na G A 6 0.0535144 0.0585 . . . . . . . . . intronic . 0.0105238 . . . . . . . . . . -2 1 74819077 na T G 208 0.939097 0.9416 . . . . . . . 0.9435 . intronic . 0.924555 . . . . . . . . 0.9423 . -2 1 74832855 na C T 1 0.00159744 0.0042 . . . . . . . . . intronic . 0.0003752 . . . . . . . . . . 0 1 74833505 na G A 1 0.00359425 0.0001 . . . . . . . . . intronic . 0.0002911 . . . . . . . . . . 0 1 74836154 na T G 6 0.0535144 0.0588 . . . . . . . . . intronic . 0.0104397 . . . . . . . . . . -2 1 74901739 na CT C 119 0.540335 0.7325 . . . . . . . 0.1365 . intronic . 0.0003622 . . . . . . . . . . -2 1 74901829 na A C 8 0.0776757 0.0596 . . . . . . . 0.0616 . intronic . 0.0636085 . . . . . . . . 0.06 . -2 1 74902244 na A G 8 0.0662939 0.0619 . . . . . . . 0.0621 . intronic . 0.0607301 . . . . . . . . 0.0619 Name\x3d95.654677 -1 1 74929048 na T G 2 0.00319489 0.0093 . . . . . . . . . intronic . 0.0001921 . . . . . . . . . . 0 1 74929075 na T C 3 0.0660942 0.0056 . . . . . . . 0.0076 . intronic . 0.0267849 . . . . . . . . 0.0070 . -2 1 74929131 na C G 3 0.00858626 . 6.930 . . . . . . 1.862e-05 nonsynonymous_SNV exonic . 0.0002781 D . . . D D . . . Name\x3d97.509553 11 1 74954856 na C CT 4 0.081869 0.0119 . . . . . . . 0.0137 . intronic . 0.0010155 . . . . . . . . 0.0168 . -2 1 74957896 na G C 1 0.000199681 6.484e-05 7.042 . . . . . . 7.374e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . D T . . 0.0001 Name\x3d97.168821 6 1 75005984 na C T 1 0.000199681 . . . . . . . . 3.701e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d95.128939 3 1 75006027 na A G 120 0.324481 0.5647 . . . . . . . 0.5594 . intronic . 0.0032665 . . . . . . . . 0.5560 . -2 1 75006076 na G A 204 0.916334 0.9606 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 1 75009539 na G A 1 0.000199681 . . . . . . . . 1.866e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 1 75009749 na A G 1 0.000199681 . . . . . . . . . . UTR3 . 3.84e-05 . . . . . . . . . Name\x3d98.637970 3 1 78383467 NEXN G A 189 0.763778 0.8547 . . . . . . . 0.8610 . intronic . 0.788858 . . . . . . . . 0.8608 Name\x3d99.448456 1 1 78383669 NEXN G C 1 0.000199681 . 5.175 . . . . . . 1.844e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P D . . . Name\x3d99.825396 8 1 78383732 NEXN C T 1 0.000199681 . . . . . . . . 1.844e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d97.926567 5 1 78390821 NEXN CA C 5 0.00938498 0.0163 . . . . . . . . . intronic . 0.0016905 . . . . . . . . 0.0251 Name\x3d99.749426 1 1 78391020 NEXN T C 4 0.0341454 0.0174 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . Name\x3d95.131935 1 1 78392446 NEXN G A 48 0.150759 0.2103 5.664 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000008757|Promoter . . 0.2162 nonsynonymous_SNV exonic rs1166698|Lung-function-(FEV1/FVC)||2E-15|PMID:30595370 0.0013907 T . . . D D . . 0.2073 Name\x3d99.839430 5 1 78394997 NEXN T C 1 0.000199681 . . . . . . . . 1.864e-05 . intronic . 1.29e-05 . . . . . . . 0.03 . Name\x3d97.612935 5 1 78399207 NEXN C G 172 0.664537 0.8149 . . . . . . . 0.8178 . intronic . 0.0001552 . . . . . . . . 0.8166 . 0 1 78399212 NEXN T C 17 0.0944489 0.0396 . . . . . . . 0.0612 . intronic . 0.0485311 . . . . . . . . 0.0437 . 0 1 78407911 NEXN C G 1 0.00119808 0.0038 . MedGen:CN169374 not_specified Benign . . . 0.0028 . intronic . 0.0027555 . . Name\x3dOREG1242724|N/A|SMARCA4|PAZAR . . . . . 0.0032 Name\x3d96.932182 4 1 78408536 NEXN C G 16 0.122005 0.0856 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . 0.1187 . UTR3 . 0.0998111 . . . . . . . . 0.0849 Name\x3d99.352839 1 1 112318945 KCND3 C A 1 0.000199681 . . . . . Name\x3dENSR00000368797|Enhancer . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d98.612548 4 1 112319899 KCND3 C T 2 0.000399361 . . . . . . . . 7.36e-05 . intronic . 4.53e-05 . . . . . . . . . Name\x3d99.583364 3 1 112320984 KCND3 G A 1 0.0285543 0.0007 . . . . Name\x3dENSR00000368799|Enhancer . . . . intronic . 0.0086061 . . . . . . . . . Name\x3d98.627817 0 1 112321032 KCND3 T A 26 0.192692 0.2084 . . . . Name\x3dENSR00000368799|Enhancer . . 0.1952 . intronic . 0.180444 . . . . . . . . 0.1974 Name\x3d99.550118 1 1 112329551 KCND3 G T 35 0.192692 0.1555 . MedGen:CN169374 not_specified Benign . . . 0.1486 . intronic . 0.161634 . . . . . . . . 0.1417 Name\x3d98.047328 -1 1 112524467 KCND3 G C 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1520082|N/A|EGR1|PAZAR . . . . . . Name\x3d99.758332 4 1 112524583 KCND3 G A 1 0.000199681 . 6.470 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1520082|N/A|EGR1|PAZAR . D D . . . Name\x3d99.769855 10 1 112524680 KCND3 C G 3 0.0081869 0.0255 . MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736 Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype Benign . . . 0.0200 synonymous_SNV exonic . 0.0141395 . . Name\x3dOREG1520082|N/A|EGR1|PAZAR . . . . . 0.0186 Name\x3d99.770690 0 1 112525085 KCND3 G A 14 0.0471246 0.1159 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1249 synonymous_SNV exonic . 0.0906068 . . Name\x3dOREG1520082|N/A|EGR1|PAZAR . . . . . 0.1205 Name\x3d99.749781 0 1 115252142 NRAS A T 1 0.000199681 . . . . . . . . 1.843e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d95.365687 3 1 115252280 NRAS C T 1 0.000199681 0.0006 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Rasopathy|not_specified|not_provided Benign/Likely_benign . . . 0.0005 synonymous_SNV exonic . 0.0002911 . . . . . . . . 0.0006 Name\x3d99.689718 1 1 115256669 NRAS G A 144 0.8752 0.6349 . . . . . . . . . intronic . 0.0002689 . . . . . . . . . Name\x3d99.124346 -1 1 115258827 NRAS T G 46 0.202276 6.491e-05 . . . . Name\x3dENSR00000011708|Promoter . . 0.0049 . intronic . 0.0136221 . . Name\x3dOREG1255760|N/A|SMARCA4|PAZAR,OREG1494612|N/A|EGR1|PAZAR . . . . . . Name\x3d99.361805 1 1 115258830 NRAS C G 46 0.221446 . . . . . Name\x3dENSR00000011708|Promoter . . 0.0543 . intronic . 0.0638284 . . Name\x3dOREG1255760|N/A|SMARCA4|PAZAR,OREG1494612|N/A|EGR1|PAZAR . . . . . . Name\x3d99.361805 1 1 116243868 CASQ2 A G 14 0.0309505 0.0683 . Human_Phenotype_Ontology:HP:0045005,MedGen:C3891448,OMIM:182940,Orphanet:ORPHA3388,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0625 synonymous_SNV exonic . 0.0529683 . . . . . . . . 0.0614 Name\x3d99.698690 1 1 116243877 CASQ2 G A 106 0.425719 0.3610 . Human_Phenotype_Ontology:HP:0045005,MedGen:C3891448,OMIM:182940,Orphanet:ORPHA3388,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.3609 synonymous_SNV exonic . 0.0005692 . . . . . . . . 0.3573 Name\x3d99.771213 1 1 116245655 CASQ2 G C 61 0.216054 0.2199 . . . . . . . 0.2322 . intronic . 0.196233 . . Name\x3dOREG1489158|N/A|EGR1|PAZAR . . . . . 0.2029 Name\x3d99.527187 2 1 116247790 CASQ2 G A 60 0.428714 0.2944 . MedGen:CN169374 not_specified Benign . . . 0.3097 . intronic . 0.342441 . . . . . . . . 0.3197 . 0 1 116260532 CASQ2 A T 134 0.642772 0.5360 . MedGen:C2677794,OMIM:611938|MedGen:CN169374 Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified Benign Name\x3dENSR00000369737|Enhancer . . 0.5446 . intronic . 0.573414 . . . . . . . . 0.5505 Name\x3d98.848888 2 1 116260544 CASQ2 C T 74 0.250799 0.2373 . . . . Name\x3dENSR00000369737|Enhancer . . 0.2309 . intronic . 0.231912 . . . . . . . . 0.2274 Name\x3d98.991300 2 1 116260604 CASQ2 G A 134 0.630591 0.5365 . . . . Name\x3dENSR00000369737|Enhancer . . . . intronic . 0.111221 . . . . . . . . . Name\x3d97.371601 2 1 116268154 CASQ2 C T 1 0.000399361 . 5.979 MedGen:CN169374 not_specified Uncertain_significance . . . 9.216e-05 nonsynonymous_SNV exonic . 7.76e-05 T . . . B D . . . Name\x3d99.915304 8 1 116268178 CASQ2 GAA G 117 0.505391 0.5078 . MedGen:CN169374 not_specified Benign . . . 0.1112 . intronic . 0.0001552 . . . . . . . . . Name\x3d99.780676 1 1 116268283 CASQ2 C T 129 0.567292 0.5282 . . . . . . . . . intronic . 0.548025 . . . . . . . . . Name\x3d95.605143 1 1 116269560 CASQ2 C T 1 0.000199681 0.0001 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d98.652906 5 1 116275561 CASQ2 G C 1 0.000399361 0.0006 5.974 MedGen:C0344432|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Ventricular_tachycardia,_polymorphic|Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0010 nonsynonymous_SNV exonic . 0.0006986 D . . . D D . . 0.0010 Name\x3d99.855039 9 1 116283343 CASQ2 A G 188 0.64357 0.8592 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified Benign . . . 0.8695 . intronic . 0.785559 . . . . . . 0.0183 0.076 0.8780 Name\x3d99.773890 1 1 116283526 CASQ2 G A 188 0.64357 0.8592 . . . . . . . . . intronic . 0.157837 . . . . . . . . . Name\x3d97.990499 1 1 116310943 CASQ2 C A 1 0.000199681 . 11.767 . . . Name\x3dENSR00000369751|Promoter . . 1.84e-05 stopgain exonic . 1.29e-05 . . Name\x3dOREG1489157|N/A|EGR1|PAZAR . . . . . . Name\x3d99.870293 15 1 116310967 CASQ2 T C 79 0.401158 0.2586 -1.622 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000369751|Promoter . . 0.2848 nonsynonymous_SNV exonic rs4074536|QRS-duration|0.33213338|2E-11|PMID:30012220 0.320132 T . Name\x3dOREG1489157|N/A|EGR1|PAZAR . B T . . 0.2891 Name\x3d99.668376 5.5 1 116311198 CASQ2 T C 214 0.96246 0.9993 . . . . Name\x3dENSR00000369751|Promoter . . 0.9991 . UTR5 . 0.955673 . . Name\x3dOREG1489157|N/A|EGR1|PAZAR . . . . . 0.9994 Name\x3d97.930141 3 1 147230217 GJA5 T C 167 0.880391 0.7750 . . . . . . . . . UTR3 . 0.163019 . . . . . . . . . . -2 1 147230978 GJA5 G A 3 0.0163738 0.0050 . MedGen:C3279693,OMIM:614049|MedGen:C3468561,Orphanet:ORPHA334|MedGen:C4551959,OMIM:108770 Atrial_fibrillation,_familial,_11|Familial_atrial_fibrillation|Atrial_standstill_1 Benign/Likely_benign . . . 0.0071 synonymous_SNV exonic . 0.0088162 . . . . . . . . 0.0064 Name\x3d98.569602 -1 1 156084760 LMNA C T 2 0.00678914 0.0115 . 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:C0270914,Orphanet:ORPHA64746|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:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Primary_dilated_cardiomyopathy|Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign Name\x3dENSR00000014148|Promoter . . 0.0405 synonymous_SNV exonic . 0.0088873 . . Name\x3dOREG1888508|N/A|STAT1|PAZAR,OREG1228955|N/A|SMARCA4|PAZAR,OREG1259368|N/A|SMARCA4|PAZAR . . . . . 0.0126 Name\x3d99.741400 3 1 156104292 LMNA G A 5 0.00798722 0.0078 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|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:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign . . . 0.0088 synonymous_SNV exonic . 0.0089973 . . . . . . . . 0.0073 Name\x3d99.637898 11 1 156104375 LMNA G T 3 0.077476 0.0226 . . . . . . . . . intronic . 0.007335 . . . . . . . . . Name\x3d96.702863 1 1 156104392 LMNA C T 3 0.0750799 0.0227 . . . . . . . . . intronic . 0.007018 . . . . . . . . . Name\x3d96.072802 1 1 156104659 LMNA C T 1 0.000199681 . 4.678 . . . . . Name\x3dMIMAT0004687|hsa-miR-371a-5p|Experimental . nonsynonymous_SNV exonic . 1.29e-05 D . . . B T . . . Name\x3d99.613897 6 1 156105028 LMNA T C 32 0.193091 0.0701 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|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:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign . . Name\x3dMIMAT0000071|hsa-miR-17-3p|Experimental 0.0717 synonymous_SNV exonic . 0.106389 . . . . . . . . 0.0751 Name\x3d99.584850 2 1 156105928 LMNA G A 31 0.192292 0.0692 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN517202 Primary_dilated_cardiomyopathy|not_specified|not_provided Benign/Likely_benign . . . 0.0708 . intronic . 0.10364 . . . . . . . . 0.0748 Name\x3d99.059805 1 1 156105961 LMNA C T 3 0.00219649 0.0133 . MedGen:C0270914,Orphanet:ORPHA64746|MedGen:CN169374|MedGen:CN517202 Charcot-Marie-Tooth_disease,_type_2|not_specified|not_provided Benign . . . 0.0109 . intronic . 0.0079624 . . . . . . . . 0.0069 Name\x3d98.499001 1 1 156106185 LMNA T C 31 0.249201 0.0703 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|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:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|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|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign . . . 0.0977 synonymous_SNV exonic . 0.120911 . . . . . . . . 0.0760 Name\x3d99.702397 1 1 156106863 LMNA C T 31 0.182308 0.0697 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0713 . intronic . 0.102677 . . . . . . . . 0.0751 Name\x3d97.631424 1 1 156107470 LMNA G A 1 0.000199681 0.0006 4.275 Human_Phenotype_Ontology:HP:0009830,MedGen:C0031117,Orphanet:ORPHA98496|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Peripheral_neuropathy|Charcot-Marie-Tooth_disease,_type_2|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 nonsynonymous_SNV exonic . 0.0001358 D . . . D T . . 0.0004 Name\x3d99.670614 6 1 156107534 LMNA C T 45 0.220248 0.2487 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|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:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|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|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign . . . 0.2886 synonymous_SNV exonic . 0.116195 . . . . . . . . 0.2531 Name\x3d99.674683 1 1 156108325 LMNA G A 1 0.000199681 6.483e-05 7.313 MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348|MedGen:CN517202 Familial_partial_lipodystrophy_2|not_provided Pathogenic . . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1498572|N/A|EGR1|PAZAR . D D . . . Name\x3d99.626187 12 1 156108610 LMNA G T 2 0.000998403 0.0018 . . . . . . . . . intronic . 0.0002717 . . Name\x3dOREG1498572|N/A|EGR1|PAZAR . . . . . . Name\x3d97.866814 4 1 156108976 LMNA G C 32 0.185304 0.0696 . MedGen:CN517202 not_provided not_provided . . . . . UTR3 . 0.0188031 . . . . . . . . 0.0773 Name\x3d99.120371 1 1 156109536 LMNA G A 4 0.00319489 0.0109 . . . . . . . 0.0192 . UTR3 . 0.0024126 . . . . . . . . . Name\x3d99.321233 1 1 162257246 NOS1AP A G 2 0.00599042 0.0131 . . . . . . . 0.0177 . intronic . 0.0117916 . . . . . . . . 0.0174 . -2 1 162270589 NOS1AP T C 1 0.000199681 . . . . . Name\x3dENSR00000375341|Enhancer . . . . intronic . 3.84e-05 . . . . . . . . . . 3 1 162302846 NOS1AP C T 2 0.00319489 0.0049 . MedGen:CN517202 not_provided Benign . . . 0.0042 synonymous_SNV exonic . 0.0033764 . . . . . . . . 0.0041 Name\x3d98.165457 1 1 162313597 NOS1AP T C 208 0.925919 0.9815 . . . . . . . 0.9796 . intronic . 0.947808 . . . . . . . . 0.9816 . -2 1 162313735 NOS1AP C T 74 0.430911 0.3649 . . . . . . . 0.3669 synonymous_SNV exonic . 0.397168 . . . . . . . . 0.3571 Name\x3d97.807592 -1 1 162324934 NOS1AP G T 1 0.000998403 6.487e-05 . . . . . . . 1.843e-05 . intronic . 0.0003169 . . . . . . . . . . 0 1 162325172 NOS1AP T G 1 0.000199681 0.0003 . . . . . . . 0.0003 . intronic . 0.000207 . . . . . . . . 0.0005 . 0 1 162326755 NOS1AP G A 1 0.000599042 0.0003 . . . . . . . 7.363e-05 synonymous_SNV exonic . 0.00011 . . . . . . . . 0.0002 Name\x3d96.457502 1 1 162326851 NOS1AP C T 1 0.00159744 0.0082 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Likely_benign . . . 0.0092 synonymous_SNV exonic . 0.0059378 . . . . . . . . 0.0073 Name\x3d98.477502 1 1 162335256 NOS1AP C T 37 0.250799 0.1074 . . . . Name\x3dENSR00000932148|Enhancer . . 0.1186 synonymous_SNV exonic . 0.166621 . . . . . . . . 0.1199 Name\x3d97.930348 0 1 162335289 NOS1AP G A 1 0.000199681 . 3.967 . . . Name\x3dENSR00000932148|Enhancer . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B D . . . Name\x3d98.122376 4 1 162335424 NOS1AP T C 176 0.719249 0.8913 . . . . . . . . . intronic . 0.162191 . . . . . . . . . . -2 1 201328267 TNNT2 G A 3 0.00678914 0.0282 . . . . . . . . . UTR3 . 0.0031371 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.0270 Name\x3d98.232803 2 1 201328272 TNNT2 C T 7 0.00738818 0.0244 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . . . UTR3 . 0.003564 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.0330 Name\x3d97.895900 2 1 201328301 TNNT2 G A 1 0.00159744 0.0005 . . . . . . . 0.0008 . UTR3 . 0.0012031 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.0003 Name\x3d95.543918 4 1 201328329 TNNT2 G A 1 0.000199681 . . . . . . . . 5.033e-05 . UTR3 . 2.59e-05 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.0001 . 5 1 201328348 TNNT2 C A 1 0.000199681 . 8.083 . . . Name\x3dENSR00000935437|Enhancer . . 2.359e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . D D . . . Name\x3d99.903008 10 1 201328705 TNNT2 G A 10 0.0113818 0.0263 . . . . . . . 0.0384 . intronic rs45576635|Neurofibrillary-tangles|1.1179|9E-6|PMID:25188341 0.0193788 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.0283 Name\x3d96.534858 2 1 201328824 TNNT2 G A 23 0.277157 0.0993 . MedGen:CN169374 not_specified Benign . . . 0.1404 . intronic . 0.132896 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.1020 Name\x3d97.174482 2 1 201328913 TNNT2 G C 23 0.277955 0.0988 . . . . . . . . . intronic . 0.152144 . . . . . . . . . . 0 1 201330429 TNNT2 T C 5 0.0974441 0.0179 2.213 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 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0168 nonsynonymous_SNV exonic . 0.047024 T . . . B T . . 0.0148 Name\x3d99.885874 2.5 1 201330583 TNNT2 A G 12 0.170927 0.1028 . . . . . . . . . intronic . 0.003112 . . . . . . . . . Name\x3d99.196602 1 1 201331240 TNNT2 C T 1 0.0341454 0.0005 . . . . . . . 0.0007 nonsynonymous_SNV exonic . 0.0091719 . . . . . . . . . Name\x3d99.348823 2.5 1 201331335 TNNT2 A G 12 0.165535 0.1032 . . . . . . . . . intronic . 0.0212546 . . . . . . . . 0.1018 Name\x3d98.670438 1 1 201331379 TNNT2 T C 12 0.165335 0.1030 . . . . . . . . . intronic . 0.0238677 . . . . . . . . . Name\x3d97.911480 1 1 201334382 TNNT2 G A 160 0.695088 0.7215 . 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 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.7150 synonymous_SNV exonic . 0.712837 . . . . . . . . 0.7184 Name\x3d99.912799 1 1 201334795 TNNT2 C T 23 0.0824681 0.0613 . 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 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0626 synonymous_SNV exonic . 0.0622954 . . . . . . . . 0.0634 Name\x3d99.887891 1 1 201335899 TNNT2 C T 214 0.98143 0.9995 . . . . . . . . . intronic . 0.947287 . . . . . . . . 0.9991 . 0 1 201336984 TNNT2 C T 97 0.285543 0.4637 . MedGen:CN169374 not_specified Benign . . . 0.4556 . intronic . 0.389284 . . . . . . . . 0.4466 Name\x3d98.303597 1 1 201337340 TNNT2 G T 1 0.000199681 . -0.485 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B T . . . Name\x3d99.438160 5 1 201338553 TNNT2 T C 160 0.734625 0.7233 . . . . . . . . . intronic . 0.0237821 . . . . . . . . 0.7219 Name\x3d98.438366 1 1 201338586 TNNT2 A G 137 0.519169 0.6265 . . . . . . . . . intronic . 0.0995653 . . . . . . . . . . 0 1 201338896 TNNT2 T C 137 0.529952 0.6267 . . . . . . . 0.6176 . intronic . 0.0034088 . . . . . . . . 0.6210 Name\x3d96.452912 1 1 201339043 TNNT2 C T 142 0.536142 0.6338 . . . . . . . . . intronic . 0.115717 . . . . . . . . 0.6332 Name\x3d95.498272 1 1 201339044 TNNT2 G A 12 0.0678914 0.0995 . . . . . . . . . intronic . 0.0184409 . . . . . . . . 0.1009 Name\x3d95.498272 1 1 201341175 TNNT2 CAGAAG C 137 0.520367 0.6186 . . . . . . . 0.6146 . intronic . 0.0179364 . . . . . . . . . Name\x3d99.766280 1 1 201341341 TNNT2 C T 161 0.771765 0.7269 . . . . . . . . . intronic . 0.141499 . . . . . . . . 0.7244 Name\x3d96.472642 1 1 227069677 PSEN2 T C 169 0.735623 0.7630 . MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.7835 synonymous_SNV exonic . 0.755857 . . . . . . . . 0.7801 Name\x3d99.219904 1 1 227069737 PSEN2 C T 141 0.443291 0.5185 . MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.5458 synonymous_SNV exonic . 0.494392 . . . . . . . . 0.5388 Name\x3d98.315941 1 1 227071364 PSEN2 G A 141 0.443291 0.5187 . . . . . . . 0.5468 . intronic . 0.473131 . . . . . . . . 0.5378 . 0 1 227071377 PSEN2 T C 168 0.624401 0.7604 . . . . . . . 0.7805 . intronic . 0.695211 . . . . . . . . 0.775 . 0 1 227071383 PSEN2 C T 1 0.0219649 0.0014 . . . . . . . 0.0037 . intronic . 0.0099611 . . . . . . . . 0.0026 . 0 1 227071449 PSEN2 G A 1 0.0179712 0.0015 2.001 MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN239310|MedGen:CN517202 Alzheimer's_disease|Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0036 nonsynonymous_SNV exonic . 0.0091267 D . . . B T . . 0.0026 Name\x3d99.143693 1 1 227071475 PSEN2 C T 1 0.00139776 0.0047 5.492 MedGen:CN169374 not_specified Likely_benign . . . 0.0038 nonsynonymous_SNV exonic . 0.003053 D . . . P D . . 0.0037 Name\x3d99.227454 6 1 227071525 PSEN2 C T 141 0.443291 0.5191 . MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.5452 synonymous_SNV exonic . 0.496235 . . . . . . . . 0.5395 Name\x3d99.494062 1 1 227071564 PSEN2 C T 2 0.000399361 . . . . . . . . 7.361e-05 synonymous_SNV exonic . 0.00011 . . . . . . . . . Name\x3d99.338584 5 1 227073410 PSEN2 G C 169 0.735623 0.7633 . . . . . . . 0.7840 . intronic . 6.5e-06 . . . . . . . . 0.78 . 0 1 227073420 PSEN2 G A 1 0.000998403 0.0023 . . . . . . . 0.0025 . intronic . 0.0016688 . . . . . . . . 0.0033 . 2 1 227075920 PSEN2 A G 2 0.00419329 0.0209 . . . . . . . . . intronic . 0.0016365 . . . . . . . . 0.0113 . 0 1 227075939 PSEN2 C T 4 0.00838658 0.0184 . . . . . . . . . intronic . 0.0174043 . . . . . . . . . . 0 1 227076653 PSEN2 C G 1 0.000199681 0.0004 . MedGen:CN043596|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant Uncertain_significance . . . 0.0003 synonymous_SNV exonic . 0.0002523 . . . . . . . . 0.0007 Name\x3d99.370835 3 1 227076671 PSEN2 T C 5 0.0291534 0.0055 . MedGen:CN043596|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0064 synonymous_SNV exonic . 0.0127941 . . . . . . . . 0.0073 Name\x3d99.319730 1 1 227078955 PSEN2 T C 169 0.722843 0.7634 . . . . . . . 0.7893 . intronic . 0.741077 . . . . . . . . 0.7797 . 0 1 227081850 PSEN2 G A 146 0.574081 0.5395 . . . . . . . 0.5714 . intronic . 0.556481 . . . . . . . . 0.5608 . 0 1 228399482 na C G 143 0.721046 0.6102 . . . . . . . 0.6195 . ncRNA_intronic . 0.576681 . . Name\x3dOREG1507123|N/A|EGR1|PAZAR . . . . . 0.6129 Name\x3d98.339343 0 1 228399519 OBSCN T A 1 0.00179712 0.0046 3.232 MedGen:CN517202 not_provided Uncertain_significance . . . 0.0074 nonsynonymous_SNV exonic . 0.0034088 D . Name\x3dOREG1507123|N/A|EGR1|PAZAR . D T . . 0.0057 Name\x3d98.767242 7 1 228399671 OBSCN G A 2 0.0245607 0.0016 4.150 . . . . . . 0.0035 nonsynonymous_SNV exonic . 0.0085769 T . Name\x3dOREG1507123|N/A|EGR1|PAZAR . P T . . 0.0018 Name\x3d99.227586 3.5 1 228399766 OBSCN T C 143 0.726238 0.6103 . . . . . . . 0.6251 synonymous_SNV exonic . 0.445602 . . Name\x3dOREG1507123|N/A|EGR1|PAZAR . . . . . 0.6178 Name\x3d98.799616 2 1 228399799 OBSCN C T 3 0.0507188 0.0477 . . . . . . . 0.0467 synonymous_SNV exonic . 0.0192236 . . Name\x3dOREG1507123|N/A|EGR1|PAZAR . . . . . 0.037 Name\x3d98.686199 2 1 228401183 OBSCN G C 1 0.000998403 0.0002 4.903 . . . Name\x3dENSR00000021279|Promoter . . 0.0003 nonsynonymous_SNV exonic . 0.0004528 D . Name\x3dOREG1850440|N/A|RB1|PAZAR,OREG1507123|N/A|EGR1|PAZAR,OREG1820737|N/A|RBL2|PAZAR . D T . . . Name\x3d99.127294 8 1 228401329 OBSCN C T 1 0.00339457 0.0066 . . . . Name\x3dENSR00000021279|Promoter . . 0.0144 synonymous_SNV exonic . 0.0032147 . . Name\x3dOREG1820737|N/A|RBL2|PAZAR,OREG1507123|N/A|EGR1|PAZAR . . . . . 0.0074 Name\x3d98.907049 3 1 228402047 OBSCN A G 143 0.719848 0.6102 . . . . Name\x3dENSR00000021279|Promoter . . 0.6125 synonymous_SNV exonic . 0.0035899 . . Name\x3dOREG1507123|N/A|EGR1|PAZAR . . . . . 0.6095 Name\x3d97.279925 3 1 228402097 OBSCN C G 1 0.000199681 . 3.698 . . . Name\x3dENSR00000021279|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1507123|N/A|EGR1|PAZAR . P T . . . Name\x3d97.294174 7 1 228402121 OBSCN A G 142 0.719649 0.6108 3.331 . . . Name\x3dENSR00000021279|Promoter . . 0.6122 nonsynonymous_SNV exonic . 0.638129 T . Name\x3dOREG1507123|N/A|EGR1|PAZAR . B T . . 0.6065 Name\x3d97.607743 4.5 1 228402508 OBSCN C T 70 0.275759 0.3886 . . . . . . . 0.4010 synonymous_SNV exonic . 0.339226 . . . . . . . . 0.3900 . 0 1 228402639 OBSCN C T 1 0.000199681 . . . . . . . . 1.88e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . . 4 1 228403476 OBSCN C G 1 0.000199681 0.0001 -1.394 . . . . . . 0.0002 nonsynonymous_SNV exonic . 7.12e-05 T . Name\x3dOREG1507134|N/A|EGR1|PAZAR . B T . . . Name\x3d95.715202 7.5 1 228403500 OBSCN A C 1 0.000199681 . 0.728 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1507134|N/A|EGR1|PAZAR . B T . . . . 6.5 1 228404198 OBSCN G A 3 0.0535144 0.0462 . . . . . . . 0.0954 synonymous_SNV exonic . 0.0294563 . . . . . . . . 0.0367 Name\x3d95.581921 1 1 228404305 OBSCN G A 1 0.00279553 0.0086 -0.246 . . . . . . 0.0186 nonsynonymous_SNV exonic . 0.0049935 T . Name\x3dOREG1507133|N/A|EGR1|PAZAR . B T . . 0.0084 . 2.5 1 228404368 OBSCN G A 1 0.000998403 0.0017 0.297 . . . . . . 0.0074 nonsynonymous_SNV exonic . 0.0014101 T . Name\x3dOREG1507133|N/A|EGR1|PAZAR . B T . . 0.0019 . 4.5 1 228404668 OBSCN T C 74 0.336462 0.3960 . . . . . . . 0.4056 . intronic . 0.341697 . . Name\x3dOREG1507133|N/A|EGR1|PAZAR . . . . . 0.3954 . 1 1 228404901 OBSCN G A 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1507133|N/A|EGR1|PAZAR . . . . . . . 5 1 228404997 OBSCN C T 6 0.0169728 0.0417 . . . . . . . 0.0403 . intronic . 0.0304783 . . Name\x3dOREG1507133|N/A|EGR1|PAZAR . . . . . 0.0401 . 1 1 228407010 OBSCN C T 72 0.285343 0.3852 . . . . . . . 0.4492 . intronic . 0.322253 . . . . . . . . . . 0 1 228407059 OBSCN G T 5 0.0135783 0.0374 . . . . . . . 0.0372 synonymous_SNV exonic . 0.0252843 . . . . . . . . . . 0 1 228407260 OBSCN G A 72 0.277157 0.3848 . . . . . . . 0.4159 synonymous_SNV exonic . 0.319084 . . . . . . . . . . 0 1 228407265 OBSCN G A 1 0.0429313 0.0338 0.971 . . . . . . 0.0363 nonsynonymous_SNV exonic . 0.0318237 . . . . . . . . . . 1.5 1 228407285 OBSCN C T 2 0.0307508 0.0018 3.265 . . . . . . 0.0035 nonsynonymous_SNV exonic . 0.010388 . . . . . . . . . . 1.5 1 228412106 OBSCN T C 75 0.412141 0.3910 . . . . . . . . . intronic . 0.077347 . . . . . . . . . . 0 1 228412227 OBSCN T C 75 0.41254 0.3887 . . . . . . . 0.3911 synonymous_SNV exonic . 0.0004722 . . . . . . . . . . 0 1 228412228 OBSCN G A 73 0.284145 0.3841 2.136 . . . . . . 0.3853 nonsynonymous_SNV exonic . 0.325927 T . . . B D . . . . 0 1 228412308 OBSCN G A 75 0.41254 0.3940 . . . . . . . 0.3930 synonymous_SNV exonic . 0.394186 . . . . . . . . 0.3925 . 0 1 228412415 OBSCN C T 1 0.000399361 0.0001 1.038 . . . . . . 0.0003 nonsynonymous_SNV exonic . 0.0002458 T . . . B T . . 0.0002 . 5.5 1 228431095 OBSCN A G 122 0.616613 0.6897 . . . . . . . 0.6811 synonymous_SNV exonic . 0.640968 . . . . . . . . 0.6828 . 0 1 228431930 OBSCN C T 122 0.616813 0.6902 . . . . . . . . . intronic . 0.128588 . . Name\x3dOREG1925937|N/A|TRIM28|PAZAR . . . . . . . 1 1 228432061 OBSCN C T 2 0.000599042 0.0045 . . . . . . . 0.0018 synonymous_SNV exonic . 0.0001423 . . Name\x3dOREG1925937|N/A|TRIM28|PAZAR . . . . . . . 3 1 228432264 OBSCN A T 11 0.0171725 0.0385 0.066 . . . . . . 0.0430 nonsynonymous_SNV exonic . 0.031345 T . . . B T . . 0.0401 . 1.5 1 228432323 OBSCN T C 2 0.0832668 0.0034 . . . . . . . . . intronic . 0.0052845 . . . . . . . . 0.0055 . 0 1 228433171 OBSCN C T 1 0.000798722 0.0005 0.182 . . . . . . 0.0009 nonsynonymous_SNV exonic . 0.0007762 T . . . P T . . 0.0005 . 3.5 1 228433217 OBSCN A G 122 0.616613 0.6899 . . . . . . . 0.6808 synonymous_SNV exonic . 0.639436 . . . . . . . . 0.6825 . 0 1 228433346 OBSCN C T 2 0.0587061 0.0029 . . . . . . . 0.0039 synonymous_SNV exonic . 0.0238936 . . . . . . . . 0.0028 . 0 1 228434395 OBSCN T C 122 0.617612 0.6896 . . . . . . . 0.6809 synonymous_SNV exonic . 0.641861 . . . . . . . . 0.6833 . 0 1 228434467 OBSCN T C 122 0.66254 0.6904 . . . . . . . 0.6816 synonymous_SNV exonic . 0.658174 . . . . . . . . 0.6824 . 0 1 228437603 OBSCN T C 122 0.663738 0.6898 . . . . . . . . . intronic . 0.131396 . . . . . . . . . . 0 1 228437772 OBSCN G A 2 0.0611022 0.0026 . . . . . . . 0.0028 synonymous_SNV exonic . 0.0238613 . . . . . . . . 0.0025 Name\x3d95.088721 1 1 228444297 OBSCN T G 69 0.159744 0.3405 . . . . . . . . . intronic . 0.0563317 . . Name\x3dOREG1507131|N/A|EGR1|PAZAR . . . . . . . 2 1 228444318 OBSCN T G 122 0.617013 0.6893 . . . . . . . 0.6815 . intronic . 0.635128 . . Name\x3dOREG1507131|N/A|EGR1|PAZAR . . . . . 0.6821 . 1 1 228444419 OBSCN C T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1507131|N/A|EGR1|PAZAR . . . . . . . 5 1 228444565 OBSCN T A 214 1 1 0.030 . . . . . . 1 nonsynonymous_SNV exonic . 0.0050646 T . . . B T . . . . 1.5 1 228447463 OBSCN G A 2 0.00239617 0.0104 0.355 . . . . . . 0.0136 nonsynonymous_SNV exonic . 0.0078783 T . . . . . . . 0.0110 . 1.5 1 228447513 OBSCN T G 71 0.296925 0.3845 . . . . . . . 0.3841 . intronic . 0.346076 . . . . . . . . 0.3890 . 0 1 228447519 OBSCN T A 71 0.296925 0.3846 . . . . . . . 0.3838 . intronic . 0.34519 . . . . . . . . 0.3890 . 0 1 228451826 OBSCN C T 51 0.30631 0.2998 0.352 . . . . . . 0.2937 nonsynonymous_SNV exonic . 0.279912 T . . . B T . . 0.2810 . 1.5 1 228451941 OBSCN C T 3 0.00439297 0.0053 . . . . . . . 0.0066 synonymous_SNV exonic . 0.0054527 . . . . . . . . 0.0044 Name\x3d95.455630 7 1 228452016 OBSCN G C 1 0.00399361 0.0184 -1.319 . . . . . . 0.0190 nonsynonymous_SNV exonic . 0.0134345 T . . . B T . . 0.0195 . 1.5 1 228452032 OBSCN G A 2 0.0571086 0.0032 3.095 . . . . . . 0.0044 nonsynonymous_SNV exonic . 0.0242106 T . . . P T . . 0.0044 . 1.5 1 228456294 OBSCN C G 1 0.000399361 . 2.128 . . . . . . 1.918e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d97.960017 6.5 1 228456295 OBSCN C G 1 0.000399361 . . . . . . . . . synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d97.960017 5 1 228456296 OBSCN A G 1 0.000399361 . 3.369 . . . . . . . nonsynonymous_SNV exonic . 1.29e-05 D . . . D T . . . Name\x3d97.960017 8 1 228461097 OBSCN C G 3 0.00219649 0.0097 1.035 . . . . . . 0.0081 nonsynonymous_SNV exonic . 0.0049999 T . . . . . . . . Name\x3d96.432207 8.5 1 228461129 OBSCN A G 125 0.69349 0.7084 -0.541 . . . . . . 0.6992 nonsynonymous_SNV exonic . 0.680023 T . . . . . . . 0.6953 . 1.5 1 228461187 OBSCN T C 4 0.00958466 0.0201 . . . . . . . 0.0228 synonymous_SNV exonic . 0.0164875 . . . . . . . . 0.0250 . 0 1 228461408 OBSCN A AGGG 214 0.999201 . . . . . . . . . . intronic . 0.032367 . . . . . . . . . . 0 1 228461504 OBSCN G A 1 0.00139776 0.0008 0.409 . . . . . . 0.0011 nonsynonymous_SNV exonic . 0.0010608 T . . . D T . . 0.0019 Name\x3d95.629023 3 1 228461757 OBSCN G A 33 0.206669 0.1770 . . . . . . . 0.1905 . intronic . 0.184163 . . . . . . . 0.002 0.1774 . 0 1 228462520 OBSCN C T 1 0.00179712 0.0006 . . . . . . . 0.0007 synonymous_SNV exonic . 0.0008473 . . . . . . . . 0.0002 . 2 1 228462570 OBSCN C T 1 0.00159744 0.0077 . . . . . . . 0.0104 . intronic . 0.0049223 . . . . . . . . 0.0101 . 0 1 228463425 OBSCN A G 1 0.00279553 . . . . . Name\x3dENSR00000021285|Promoter . . . . intronic . 9.06e-05 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . . 4 1 228463433 OBSCN C T 47 0.258786 0.2970 . . . . Name\x3dENSR00000021285|Promoter . . 0.3481 . intronic . 0.129487 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . 0.2507 . 2 1 228463763 OBSCN G A 1 0.000399361 . . . . . Name\x3dENSR00000021285|Promoter . . 0.0004 . intronic . 3.88e-05 . . Name\x3dOREG1135426|N/A|ZNF263|JASPAR,OREG1945738|N/A|ZNF263|PAZAR,OREG1820739|N/A|RBL2|PAZAR,OREG1840839|N/A|RB1|PAZAR,OREG1850441|N/A|RB1|PAZAR . . . . . . . 6 1 228463774 OBSCN G T 3 0.00279553 0.0067 . . . . Name\x3dENSR00000021285|Promoter . . 0.01 . intronic . 0.0021474 . . Name\x3dOREG1840839|N/A|RB1|PAZAR,OREG1820739|N/A|RBL2|PAZAR,OREG1945738|N/A|ZNF263|PAZAR,OREG1135426|N/A|ZNF263|JASPAR,OREG1850441|N/A|RB1|PAZAR . . . . . 0.0048 . 8 1 228464100 OBSCN G A 33 0.207069 0.1768 . . . . Name\x3dENSR00000021285|Promoter . . . . intronic . 0.035116 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . . 2 1 228464141 OBSCN T G 1 0.000199681 . . . . . Name\x3dENSR00000021285|Promoter . . 1.936e-05 . intronic . 1.29e-05 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . 0.7406 0.61 . . 7 1 228464248 OBSCN T G 125 0.695487 0.7106 -0.460 . . . Name\x3dENSR00000021285|Promoter . . 0.7018 nonsynonymous_SNV exonic . 0.660729 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . B T . . 0.6965 Name\x3d96.060850 4.5 1 228464255 OBSCN T C 3 0.00259585 0.0101 4.777 . . . Name\x3dENSR00000021285|Promoter . . 0.0119 nonsynonymous_SNV exonic . 0.0068498 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . D D . . 0.0109 . 5 1 228464276 OBSCN T C 125 0.663538 0.7101 -0.742 . . . Name\x3dENSR00000021285|Promoter . . 0.7011 nonsynonymous_SNV exonic . 0.648944 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . B T . . 0.6960 . 3.5 1 228464303 OBSCN G T 1 0.00459265 0.0268 1.771 . . . Name\x3dENSR00000021285|Promoter . . 0.0283 nonsynonymous_SNV exonic . 0.0173413 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . P T . . 0.0278 . 3.5 1 228464385 OBSCN G A 1 0.000199681 . 3.941 . . . Name\x3dENSR00000021285|Promoter . . 4.08e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . D T . . . Name\x3d95.630039 7 1 228464440 OBSCN C T 1 0.000199681 0.0012 . . . . Name\x3dENSR00000021285|Promoter . . 0.0011 . intronic . 0.0002975 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . 0.0005 . 4 1 228464759 OBSCN C T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . . 5 1 228464842 OBSCN C G 124 0.69369 0.7040 . . . . . . . 0.7177 . intronic . 0.594837 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . 0.6953 . 1 1 228464899 OBSCN C T 1 0.000199681 . . . . . . . . 0.0002 synonymous_SNV exonic . 7.76e-05 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . . 5 1 228464937 OBSCN G A 1 0.000199681 . 0.694 . . . . . . 6.789e-05 nonsynonymous_SNV exonic . 2.59e-05 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . P T . . 0.0001 . 6.5 1 228465346 OBSCN A G 74 0.330072 0.3808 3.591 . . . . . . 0.5264 nonsynonymous_SNV exonic . 0.303961 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . Name\x3d96.173877 3.5 1 228465370 OBSCN T G 128 0.669529 0.7128 . . . . . . . 0.7387 . intronic . 0.655761 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . 0.0001 0.002 . Name\x3d96.973539 2 1 228465403 OBSCN G T 11 0.102835 0.0606 . . . . . . . 0.0682 . intronic . 0.0737959 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . . 1 1 228465426 OBSCN C T 1 0.000399361 0.0016 . . . . . . . 0.0025 . intronic . 0.0017982 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . 0.0030 . 3 1 228466819 OBSCN C T 11 0.0167732 0.0378 . . . . . . . . . intronic . 0.0058149 . . Name\x3dOREG1507130|N/A|EGR1|PAZAR . . . . . . . 1 1 228466843 OBSCN C T 3 0.00499201 0.0108 . . . . . . . 0.0106 . intronic . 0.0077942 . . Name\x3dOREG1507130|N/A|EGR1|PAZAR . . . . . 0.0111 . 1 1 228466862 OBSCN C T 4 0.0421326 0.0365 . . . . . . . 0.0369 . intronic . 0.038156 . . Name\x3dOREG1507130|N/A|EGR1|PAZAR . . . . . 0.0331 . 1 1 228467072 OBSCN C G 1 0.00299521 0.0199 . . . . . . . 0.0128 synonymous_SNV exonic . 0.0089197 . . Name\x3dOREG1507130|N/A|EGR1|PAZAR . . . . . 0.0101 . 1 1 228467095 OBSCN T C 1 0.00219649 0.0080 2.990 . . . . . . 0.0071 nonsynonymous_SNV exonic . 0.0052328 T . Name\x3dOREG1507130|N/A|EGR1|PAZAR . D D . . 0.0089 . 6 1 228467158 OBSCN G A 1 0.000998403 0.0032 . . . . . . . 0.0024 . intronic . 0.0014165 . . Name\x3dOREG1507130|N/A|EGR1|PAZAR . . . . . 0.0018 . 3 1 228467642 OBSCN C T 1 0.000599042 . 3.815 . . . . . . 0.0002 nonsynonymous_SNV exonic . 0.0001358 T . . . D T . . 0.0002 . 2 1 228467711 OBSCN G A 6 0.0836661 0.0222 3.250 . . . . . . 0.0395 nonsynonymous_SNV exonic . 0.0425803 T . . . D T . . 0.0184 . 0 1 228467969 OBSCN G C 1 0.000998403 0.0012 4.087 . . . . . . 0.0004 nonsynonymous_SNV exonic . 0.0007503 T . . . P T . . 0.0002 Name\x3d95.194632 4.5 1 228468179 OBSCN A C 1 0.000199681 0.0004 . . . . . . . 0.0009 . intronic . 0.0003946 . . Name\x3dOREG1945742|N/A|ZNF263|PAZAR . . . . . 0.0005 . 3 1 228468244 OBSCN G A 6 0.113618 0.0227 . . . . . . . 0.0235 synonymous_SNV exonic . 0.0530976 . . Name\x3dOREG1945742|N/A|ZNF263|PAZAR . . . . . 0.0183 . 1 1 228468458 OBSCN G A 54 0.31889 0.3185 1.572 . . . . . . 0.3113 nonsynonymous_SNV exonic . 0.288424 T . . . D T . . 0.2785 . 0 1 228468566 OBSCN A G 74 0.239816 0.3703 . . . . . . . . . intronic . 0.326802 . . . . . . . . . . 0 1 228469720 OBSCN G A 1 0.000199681 . 2.733 . . . . . . 3.697e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . D T . . . . 4 1 228469801 OBSCN G C 8 0.0111821 0.0217 5.043 . . . . . . 0.0217 nonsynonymous_SNV exonic . 0.0150516 T . . . D D . . 0.0219 . 3 1 228469870 OBSCN C T 6 0.0872604 0.0218 2.777 . . . . . . 0.0225 nonsynonymous_SNV exonic . 0.0446501 T . . . B T . . 0.0178 . 1.5 1 228469903 OBSCN A T 3 0.0766773 0.0050 11.513 . . . . . . 0.0062 stopgain exonic . 0.0310604 . . . . . . . . 0.0025 . 8 1 228469904 OBSCN G T 3 0.0766773 0.0050 3.320 . . . . . . 0.0062 nonsynonymous_SNV exonic . 0.0310798 T . . . P D 0.0006 0.052 0.0024 . 0 1 228470995 OBSCN G T 53 0.318091 0.3179 . . . . Name\x3dENSR00000389191|TF_binding_site . . 0.3786 . intronic . 0.217817 . . Name\x3dOREG1507126|N/A|EGR1|PAZAR,OREG1945741|N/A|ZNF263|PAZAR . . . . . 0.2859 . 2 1 228471028 OBSCN C T 1 0.000199681 . . . . . . . . 0.0002 . intronic . 1.29e-05 . . Name\x3dOREG1945741|N/A|ZNF263|PAZAR,OREG1507126|N/A|EGR1|PAZAR . . . . . . . 5 1 228471046 OBSCN C T 70 0.147364 0.3324 . . . . . . . . . intronic . 0.268288 . . Name\x3dOREG1507126|N/A|EGR1|PAZAR,OREG1945741|N/A|ZNF263|PAZAR . . . . . . . 2 1 228471379 OBSCN G C 75 0.230232 0.3703 . . . . . . . 0.3724 synonymous_SNV exonic . 0.318256 . . Name\x3dOREG1507126|N/A|EGR1|PAZAR . . . . . 0.3681 . 2 1 228473733 OBSCN G A 1 0.000199681 0.0001 . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 1 228474422 OBSCN G C 1 0.00219649 0.0081 . . . . . . . . . intronic . 0.001313 . . . . . . . . . . 2 1 228475715 OBSCN A G 4 0.00559105 0.0175 . . . . . . . 0.0176 . intronic . 0.0120374 . . . . . . . . 0.0157 . 0 1 228475848 OBSCN G A 53 0.302716 0.3160 4.107 . . . . . . 0.3057 nonsynonymous_SNV exonic . 0.289078 T . . . P T . . 0.2973 . 1.5 1 228476366 OBSCN G T 6 0.0958466 0.0223 2.734 . . . . . . 0.0229 nonsynonymous_SNV exonic . 0.04661 T . . . B T . . 0.0149 . 1.5 1 228476367 OBSCN A T 6 0.0958466 0.0225 2.116 . . . . . . 0.0229 nonsynonymous_SNV exonic . 0.0466229 T . . . P T . . 0.0142 . 1.5 1 228476390 OBSCN G A 1 0.000199681 6.484e-05 . . . . . . . 3.68e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . . . 4 1 228476414 OBSCN G A 6 0.0938498 0.0225 . . . . . . . 0.0229 synonymous_SNV exonic . 0.0477355 . . . . . . . . 0.0186 . 0 1 228476526 OBSCN G A 1 0.000199681 . 5.578 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . . 10 1 228480282 OBSCN A G 134 0.698882 0.7136 . . . . . . . 0.7050 synonymous_SNV exonic . 0.684137 . . . . . . . . 0.7022 . 0 1 228481116 OBSCN G A 1 0.000199681 . 0.259 . . . . . . 7.372e-05 nonsynonymous_SNV exonic . 7.12e-05 T . . . B T . . 0.0001 . 5.5 1 228481382 OBSCN C T 3 0.00459265 0.0184 . . . . . . . . . intronic . 0.0018046 . . . . . . . . . . 0 1 228481917 OBSCN G A 4 0.00878594 0.0160 . . . . . . . 0.0192 synonymous_SNV exonic . 0.0141589 . . . . . . . . 0.0229 . 0 1 228482010 OBSCN C T 94 0.381989 0.5198 . . . . . . . 0.4965 synonymous_SNV exonic . 0.430609 . . . . . . . . 0.4953 . 0 1 228482028 OBSCN G C 34 0.21246 0.1699 . . . . . . . 0.1850 synonymous_SNV exonic . 0.196634 . . . . . . . . 0.1766 Name\x3d95.602941 1 1 228482059 OBSCN G A 5 0.00798722 0.0358 5.747 . . . . . Name\x3dMIMAT0000510|hsa-miR-320a-3p|Experimental 0.0321 nonsynonymous_SNV exonic . 0.0225612 T . . . D D . . 0.0421 . 4 1 228482125 OBSCN C T 1 0.000199681 6.486e-05 . . . . . . . 9.201e-05 . intronic . 0.0001164 . . . . . . . . . . 4 1 228482160 OBSCN C T 1 0.0225639 0.0031 . . . . . . . 0.0021 . intronic . 0.0170761 . . . . . . . . 0.0023 . 0 1 228482569 OBSCN G A 9 0.0127796 0.0343 . . . . . . . 0.0313 synonymous_SNV exonic . 0.0214874 . . . . . . . . 0.0324 . 0 1 228482663 OBSCN C A 1 0.000199681 . -0.373 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P T . . . . 5.5 1 228486404 OBSCN C T 31 0.165935 0.1674 0.548 . . . . . . 0.1822 nonsynonymous_SNV exonic . 0.17633 T . . . . . . . 0.1788 . 1.5 1 228487165 OBSCN C T 1 0.000599042 6.487e-05 . . . . . . . 5.528e-05 synonymous_SNV exonic . 5.17e-05 . . . . . . . . . . 2 1 228491633 OBSCN G A 5 0.052516 0.0373 0.427 . . . . . . 0.0392 nonsynonymous_SNV exonic . 0.0433759 T . . . . . . . 0.0397 . 1.5 1 228492044 OBSCN G A 97 0.369209 0.5205 . . . . . . . 0.4992 synonymous_SNV exonic . 0.427582 . . . . . . . . 0.4905 . 0 1 228492061 OBSCN C T 1 0.000199681 6.488e-05 0.464 . . . . . . 7.421e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . . D . . . . 4 1 228492125 OBSCN C T 1 0.000798722 0.0059 . . . . . . . 0.0039 synonymous_SNV exonic . 0.0025226 . . . . . . . . 0.0058 . 2 1 228492220 OBSCN C T 4 0.00539137 0.0176 2.422 . . . . . . 0.0178 nonsynonymous_SNV exonic . 0.0123349 T . . . . . . . 0.0158 . 1.5 1 228494070 OBSCN C G 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . 0.9998 0.9 . . 5 1 228494209 OBSCN T C 1 0.000599042 0.0010 . . . . . . . 0.0016 synonymous_SNV exonic . 0.0009832 . . . . . . . . 0.0010 . 2 1 228494346 OBSCN T C 1 0.000199681 . . . . . . . Name\x3dMIMAT0005905|hsa-miR-1254|Experimental . . intronic . 6.5e-06 . . . . . . . . . . 5 1 228494357 OBSCN C T 31 0.166733 0.1684 . . . . . . . 0.1903 . intronic . 0.172216 . . . . . . . . 0.1716 . 0 1 228494382 OBSCN T C,G 31 0.383387 0.5210 . . . . . . . 0.5092 . intronic . 0.401159 . . . . . . . . 0.6220 . 0 1 228494394 OBSCN C T 1 0.00239617 0.0060 . . . . . . . . . intronic . 0.0037268 . . . . . . . . . . 2 1 228494552 OBSCN C G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 1 228494696 OBSCN G A 37 0.308506 0.1927 . . . . . . . 0.2696 synonymous_SNV exonic . 0.239111 . . . . . . . . 0.1945 . 0 1 228494790 OBSCN G A 97 0.26857 0.5198 2.944 . . . . . . 0.4980 nonsynonymous_SNV exonic . 0.393889 T . . . P T . . 0.4939 . 1.5 1 228496014 OBSCN G A 31 0.213059 0.1706 . . . . . . . 0.2182 synonymous_SNV exonic . 0.192514 . . . . . . . . 0.1772 . 0 1 228497053 OBSCN A G 134 0.698682 0.7142 . . . . . . . . . intronic . 0.135723 . . . . . . . . . . 0 1 228497066 OBSCN A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 1 228497286 OBSCN C A 6 0.0932508 0.0225 . . . . . . . 0.0230 . intronic . 0.0477484 . . . . . . . . 0.0188 . 0 1 228503677 OBSCN A G 134 0.700879 0.7134 -2.279 . . . . . . 0.7121 nonsynonymous_SNV exonic . 0.63267 T . . . B T . . 0.7056 . 1.5 1 228503711 OBSCN G A 2 0.0129792 0.0431 . . . . . . . 0.0522 synonymous_SNV exonic . 0.0229945 . . . . . . . . 0.0327 Name\x3d95.031577 1 1 228503798 OBSCN G A 1 0.000399361 . . . . . . . . 0.0002 synonymous_SNV exonic . 7.12e-05 . . . . . . . . . . 4 1 228504373 OBSCN G A 1 0.000199681 6.494e-05 . . . . . . . 2.517e-05 . intronic . 3.23e-05 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . . . 5 1 228504472 OBSCN T C 134 0.699281 0.7136 -1.304 . . . . . . 0.7063 nonsynonymous_SNV exonic . 0.659759 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . B T . . 0.7008 . 2.5 1 228504507 OBSCN G T 4 0.00499201 0.0174 . . . . . . . 0.0265 synonymous_SNV exonic . 0.0137385 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . 0.0203 . 1 1 228504591 OBSCN C A 31 0.145367 0.1683 1.476 . . . . . . 0.2717 nonsynonymous_SNV exonic . 0.142967 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . D T . . 0.1672 . 1 1 228504669 OBSCN G A 31 0.145567 0.1727 . . . . . . . 0.2176 synonymous_SNV exonic . 0.0800054 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . 0.1453 . 1 1 228504670 OBSCN C T 97 0.330272 0.5220 3.693 . . . . . . 0.4984 nonsynonymous_SNV exonic . 0.207882 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . B T . . 0.4398 . 2.5 1 228504701 OBSCN G GCTCC 134 0.699081 0.7119 . . . . . . . 0.7038 . intronic . 0.0302066 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . 0.6286 . 1 1 228505204 OBSCN G A 37 0.315296 0.1926 3.357 . . . . . . 0.2105 nonsynonymous_SNV exonic . 0.242164 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . P D . . 0.1944 . 1 1 228505518 OBSCN C T 1 0.00159744 0.0056 . . . . . . . . . intronic . 0.0010608 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . . . 3 1 228505668 OBSCN C G 134 0.699281 0.7136 0.755 . . . . . . 0.7049 nonsynonymous_SNV exonic . 0.684881 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . B T . . 0.7016 . 2.5 1 228505699 OBSCN T C 134 0.705871 0.7135 . . . . . . . 0.7061 synonymous_SNV exonic . 0.004172 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . 0.7008 . 1 1 228505725 OBSCN A C 1 0.000399361 0.0005 3.123 . . . . . . 0.0017 nonsynonymous_SNV exonic . 0.0009638 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . D D . . 0.0009 . 6 1 228505727 OBSCN C T 6 0.086262 0.0223 2.382 . . . . . . 0.0230 nonsynonymous_SNV exonic . 0.0456721 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . B D . . 0.0186 . 1 1 228505739 OBSCN G A 31 0.173123 0.1683 0.313 . . . . . . 0.1817 nonsynonymous_SNV exonic . 0.17992 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . B T . . 0.1735 . 2.5 1 228505925 OBSCN G A 4 0.00519169 0.0174 . . . . . . . . . intronic . 0.0021086 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . 0.0148 . 1 1 228506661 OBSCN G A 6 0.0107827 0.0185 . . . . . . . 0.0695 synonymous_SNV exonic . 0.0139196 . . . . . . . . 0.0230 . 0 1 228506768 OBSCN C T 1 0.000199681 0.0007 1.693 . . . . . . 0.0003 nonsynonymous_SNV exonic . 0.0002329 T . . . B T . . 0.0005 . 3.5 1 228506965 OBSCN C T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 1 228509367 OBSCN G A 1 0.000199681 6.482e-05 6.644 . . . . . . 0.0002 nonsynonymous_SNV exonic . 0.0002005 T . Name\x3dOREG1507127|N/A|EGR1|PAZAR . B T . . 0.0002 . 5 1 228509427 OBSCN A G 134 0.684704 0.7137 -0.311 . . . . . . 0.7041 nonsynonymous_SNV exonic . 0.678102 T . Name\x3dOREG1507127|N/A|EGR1|PAZAR . B T . . 0.6968 . 2.5 1 228511197 OBSCN G A 1 0.000199681 . 5.134 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D T . . . Name\x3d95.039834 8 1 228511240 OBSCN C T 1 0.000199681 6.485e-05 . . . . . . . 0.0002 synonymous_SNV exonic . 0.0002975 . . . . . . . . 0.0002 Name\x3d95.667258 5 1 228520538 OBSCN C T 1 0.000199681 0.0010 . . . . . . . 0.0015 . intronic . 0.0008667 . . . . . . . . 0.0013 . 2 1 228520880 OBSCN C T 86 0.341853 0.4468 . . . . . . . 0.4582 . intronic . 0.320293 . . . . . . . . 0.4158 . 0 1 228520973 OBSCN C G 86 0.335064 0.4465 1.995 . . . . . . 0.4687 nonsynonymous_SNV exonic . 0.282719 T . . . B T . . 0.4179 . 1.5 1 228521002 OBSCN C A 1 0.000399361 0.0012 . . . . . . . 0.0040 synonymous_SNV exonic . 0.0005886 . . . . . . . . 0.0010 Name\x3d96.076251 3 1 228522357 OBSCN G A 11 0.00938498 0.0228 . . . . . . . . . intronic . 0.019018 . . . . . . . . . . 0 1 228522483 OBSCN C T 5 0.034345 0.0370 . . . . . . . 0.0498 . intronic . 0.0188807 . . . . . . . . 0.0328 . 0 1 228522509 OBSCN C A 1 0.000199681 . . . . . . . . 0.0002 . intronic . 1.94e-05 . . . . . . 0.0045 0.144 . . 4 1 228523005 OBSCN T TG 100 0.469449 0.6602 . . . . . . . 0.4422 . intronic . 0.0016947 . . . . . . . . 0.4253 . 0 1 228523042 OBSCN T G,TG 100 0.344449 0.5166 . . . . . . . . . intronic . 0.0018499 . . . . . . . . 0.4471 . 0 1 228523412 OBSCN G A 17 0.126797 0.0953 . . . . . . . . . intronic . 0.0182921 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR . . . . . . . 1 1 228523442 OBSCN T C 103 0.478435 0.5398 . . . . . . . 0.5191 . intronic . 0.466288 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR . . . . . 0.5171 . 1 1 228523447 OBSCN T C 175 0.813498 0.8291 . . . . . . . 0.8269 . intronic . 0.0071797 . . Name\x3dOREG1945739|N/A|ZNF263|PAZAR,OREG1507125|N/A|EGR1|PAZAR . . . . . 0.8251 . 1 1 228523448 OBSCN G A 86 0.352636 0.4443 . . . . . . . 0.4258 . intronic . 0.347027 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR . . . . . 0.3968 . 1 1 228523596 OBSCN G A 3 0.000998403 6.482e-05 . . . . . . . 0.0002 . intronic . 0.0001488 . . Name\x3dOREG1945739|N/A|ZNF263|PAZAR,OREG1507125|N/A|EGR1|PAZAR . . . . . 0.0001 . 7 1 228523618 OBSCN G A 103 0.474241 0.5422 . . . . . . . . . intronic . 0.0982976 . . Name\x3dOREG1945739|N/A|ZNF263|PAZAR,OREG1507125|N/A|EGR1|PAZAR . . . . . 0.5195 . 1 1 228523866 OBSCN C G 2 0.00119808 0.0023 . . . . . . . 0.0047 . intronic . 0.002859 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR . . . . . 0.0031 . 3 1 228524642 OBSCN T C 5 0.0353435 0.0373 . . . . . . . . . intronic . 0.0057761 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . . . 1 1 228524671 OBSCN C T 1 0.000199681 0.0008 . . . . . . . 0.0013 . intronic . 0.0003169 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . 0.0008 . 3 1 228524919 OBSCN G A 86 0.240016 0.4458 . . . . . . . 0.4284 . intronic . 0.348902 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . 0.4207 . 1 1 228524961 OBSCN C A 86 0.239816 0.4461 . . . . . . . 0.4304 synonymous_SNV exonic . 0.346296 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . 0.4226 . 1 1 228525008 OBSCN G A 25 0.0766773 0.1307 4.879 . . . . . . 0.1512 nonsynonymous_SNV exonic . 0.117198 T . Name\x3dOREG1507125|N/A|EGR1|PAZAR . B D . . 0.1356 . 2 1 228525627 OBSCN C A 86 0.240216 0.4444 . . . . . . . 0.4571 . intronic . 0.337945 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . 0.4221 . 1 1 228525689 OBSCN G A 1 0.000199681 0.0001 . . . . . . . 8.063e-05 synonymous_SNV exonic . 3.23e-05 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . . . 5 1 228525799 OBSCN C A 1 0.000199681 . 16.481 . . . . . . 1.968e-05 stopgain exonic . 1.29e-05 . . . . . . . . . . 12 1 228525823 OBSCN C T 1 0.000998403 0.0005 6.985 . . . . . . 0.0004 nonsynonymous_SNV exonic rs2760061|Cardiovascular-disease||1E-9|PMID:30595370 0.0004269 T . . . D D . . 0.0004 . 5 1 228525898 OBSCN C G 103 0.538339 0.5457 . . . . . . . . . intronic . 0.521746 . . . . . . . . . . 0 1 228526011 OBSCN C T 25 0.117612 0.1546 . . . . . . . 0.1765 synonymous_SNV exonic . 0.130121 . . . . . . . . 0.1578 . 0 1 228526486 OBSCN G A 86 0.228435 0.4454 . . . . Name\x3dENSR00000389203|TF_binding_site . . . . intronic . 0.0609371 . . . . . . . . . . 1 1 228526578 OBSCN T A 3 0.00439297 0.0107 4.894 . . . Name\x3dENSR00000389203|TF_binding_site . . 0.0142 nonsynonymous_SNV exonic . 0.0037451 T . . . P T . . 0.0095 Name\x3d96.249129 3.5 1 228526653 OBSCN C A 1 0.00119808 0.0007 1.750 . . . Name\x3dENSR00000389203|TF_binding_site . . 0.0011 nonsynonymous_SNV exonic . 0.0005369 T . . . B T . . 0.0015 . 4.5 1 228526665 OBSCN T C 103 0.494409 0.5435 . . . . . . . 0.5246 synonymous_SNV exonic . 0.214577 . . . . . . . . 0.5569 . 0 1 228527685 OBSCN C T 3 0.00259585 0.0067 . MedGen:CN517202 not_provided Benign Name\x3dENSR00000938254|Enhancer,ENSR00000918313|TF_binding_site . . 0.0056 synonymous_SNV exonic . 0.004269 . . Name\x3dOREG1507126|N/A|EGR1|PAZAR . . . . . 0.0065 Name\x3d95.167062 9 1 228527749 OBSCN C T 1 0.00858626 0.0007 7.261 . . . Name\x3dENSR00000918313|TF_binding_site,ENSR00000938254|Enhancer . . 0.0012 nonsynonymous_SNV exonic . 0.0031759 T . Name\x3dOREG1507126|N/A|EGR1|PAZAR . D D . . 0.0018 Name\x3d95.539750 8 1 228527758 OBSCN G C 1 0.000399361 0.0003 6.172 . . . Name\x3dENSR00000938254|Enhancer,ENSR00000918313|TF_binding_site . . 0.0006 nonsynonymous_SNV exonic . 0.0004204 T . Name\x3dOREG1507126|N/A|EGR1|PAZAR . D D . . 0.0004 Name\x3d95.112814 8 1 228527844 OBSCN T G 5 0.0297524 0.0358 . . . . Name\x3dENSR00000918313|TF_binding_site,ENSR00000938254|Enhancer . . 0.0427 . intronic . 0.0286607 . . Name\x3dOREG1507126|N/A|EGR1|PAZAR . . . . . 0.0352 . 2 1 228528412 OBSCN G A 86 0.351837 0.4467 . . . . Name\x3dENSR00000021290|TF_binding_site . . 0.4378 . intronic . 0.371625 . . . . . . . . 0.4247 . 1 1 228528563 OBSCN C G 103 0.538738 0.5462 0.194 . . . Name\x3dENSR00000021290|TF_binding_site . . 0.5592 nonsynonymous_SNV exonic . 0.464489 T . . . B T . . 0.5203 Name\x3d95.313182 3.5 1 228528752 OBSCN A G 1 0.000199681 . . . . . Name\x3dENSR00000021290|TF_binding_site . . 9.071e-05 . intronic . 0.0001876 . . . . . . . . . . 5 1 228529129 OBSCN C A 17 0.138179 0.1048 . . . . Name\x3dENSR00000021290|TF_binding_site . . 0.1113 . intronic . 0.118776 . . . . . . 0.0005 0.1 0.0945 . 1 1 228538470 OBSCN C G 17 0.147764 0.0982 . . . . . . . . . intronic . 0.0207177 . . . . . . . . . . 0 1 228538568 OBSCN C G 1 0.00119808 0.0022 5.894 . . . . . . 0.0035 nonsynonymous_SNV exonic . 0.0023932 T . . . D D . . 0.0041 . 5 1 228538635 OBSCN C T 1 0.000798722 0.0009 6.415 . . . . . . 0.0008 nonsynonymous_SNV exonic . 0.0005951 D . . . D D . . 0.0006 . 8 1 228538968 OBSCN C T 24 0.139577 0.1351 . . . . . . . . . intronic . 0.0215456 . . . . . . . . . . 0 1 228538982 OBSCN G T 2 0.00379393 0.0055 . . . . . . . 0.0066 . intronic . 0.0029366 . . . . . . . . 0.0046 . 2 1 228539034 OBSCN C T 1 0.000399361 0.0014 . . . . . . . 0.0034 synonymous_SNV exonic . 0.0006727 . . . . . . . . 0.0012 . 2 1 228543800 OBSCN C T 17 0.172125 0.0985 . . . . . . . . . intronic . 0.0224577 . . . . . . . . 0.0899 . 0 1 228547256 OBSCN G A 17 0.147564 0.0974 . . . . . . . 0.1400 . intronic . 0.0848954 . . . . . . . . 0.0836 . 0 1 228547769 OBSCN C T 3 0.00479233 0.0110 . . . . . . . 0.0182 synonymous_SNV exonic . 0.0066623 . . . . . . . . 0.0106 . 0 1 228547901 OBSCN C T 82 0.298722 0.2856 . . . . . . . 0.2952 synonymous_SNV exonic . 0.303088 . . . . . . . . 0.3011 . 0 1 228548029 OBSCN C A 2 0.000399361 . 2.012 . . . . . . 1.856e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B D . . . . 4 1 228548094 OBSCN C G 1 0.000199681 . 2.418 . . . . . . 1.873e-05 nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . . 7 1 228548129 OBSCN T C 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . . 4 1 228548197 OBSCN G A 17 0.147764 0.0970 -0.089 . . . . . . 0.1004 nonsynonymous_SNV exonic . 0.114714 T . . . B T . . 0.0857 . 1.5 1 228548257 OBSCN G C 1 0.000199681 . -0.317 . . . . . . . nonsynonymous_SNV exonic . 2.59e-05 T . . . B T . . . . 5.5 1 228548360 OBSCN G A 3 0.00199681 0.0055 . . . . . . . 0.0045 synonymous_SNV exonic . 0.0032212 . . . . . . . . 0.0055 . 6 1 228550344 OBSCN G A 1 0.000199681 0.0006 . . . . . . . 0.0008 synonymous_SNV exonic . 0.000511 . . . . . . . . 0.0007 . 2 1 228550426 OBSCN C T 17 0.146965 0.0970 -0.124 . . . . . . 0.1424 nonsynonymous_SNV exonic . 0.1054 T . . . B T . . 0.0834 . 1.5 1 228550429 OBSCN C T 5 0.0443291 0.0359 0.627 . . . . . . 0.0643 nonsynonymous_SNV exonic . 0.0342557 T . . . B T . . 0.0362 . 1.5 1 228552618 OBSCN C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 1 228554767 OBSCN G A 1 0.000199681 . 1.354 . . . . . . 3.06e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . . 5.5 1 228556014 OBSCN C T 1 0.00159744 0.0011 . . . . . . . 0.0028 . intronic . 0.0011643 . . Name\x3dOREG1721719|N/A|HNF4A|PAZAR,OREG1745725|N/A|HNF4A|PAZAR . . . . . 0.0011 . 3 1 228556403 OBSCN C T 17 0.125599 0.0975 . . . . . . . 0.0951 . intronic . 0.106493 . . . . . . . . 0.0859 . 0 1 228556788 OBSCN C T 83 0.320487 0.3617 . . . . . . . 0.3907 . intronic . 0.326147 . . . . . . . . 0.3585 . 0 1 228556986 OBSCN G C 1 0.000599042 0.0008 . . . . . . . . . intronic . 0.0009989 . . Name\x3dOREG1622171|N/A|FOS|PAZAR . . . . . . . 3 1 228557755 OBSCN G A 1 0.00239617 0.0027 5.942 . . . Name\x3dENSR00000938301|Enhancer,ENSR00000938274|Enhancer . . 0.0027 nonsynonymous_SNV exonic . 0.0020828 T . . . D D . . 0.0012 . 6 1 228557980 OBSCN T C 1 0.00199681 0.0012 . . . . . . . 0.0007 . intronic . 0.000925 . . . . . . . . 0.0010 . 2 1 228558307 OBSCN T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 1 228558389 OBSCN C T 1 0.000199681 . 4.526 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D D . . . . 7 1 228558817 OBSCN C T 1 0.000399361 . 6.323 . . . . . . 1.859e-05 nonsynonymous_SNV exonic . 9.06e-05 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . D D . . . . 8 1 228558892 OBSCN C T 12 0.033746 0.0722 6.518 . . . . . . 0.0770 nonsynonymous_SNV exonic . 0.0549087 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . D D . . 0.0650 . 4 1 228558952 OBSCN T G 2 0.00219649 0.0123 2.292 . . . . . . 0.0163 nonsynonymous_SNV exonic . 0.0063324 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . P D . . 0.0103 Name\x3d95.025643 2 1 228558992 OBSCN CCA C 2 0.00199681 0.0088 . . . . . . . 0.0094 frameshift_deletion exonic . 0.0022768 . . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . . . . . 0.0038 . 11 1 228559008 OBSCN C T 1 0.000399361 . . . . . . . . . synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . . . . . . . 5 1 228559430 OBSCN G A 7 0.0217652 0.0376 -0.220 . . . . . . 0.0368 nonsynonymous_SNV exonic . 0.0289453 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . B T . . 0.0309 . 2.5 1 228559450 OBSCN G A 2 0.00199681 0.0100 -0.731 . . . . . . 0.0109 nonsynonymous_SNV exonic . 0.0061901 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . B T . . 0.0077 . 2.5 1 228559654 OBSCN G A 5 0.00499201 0.0111 1.765 . . . . . . 0.0153 nonsynonymous_SNV exonic . 0.0099287 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . B T . . 0.0152 . 2.5 1 228559967 OBSCN C T 4 0.00499201 0.0109 2.939 . . . . . . 0.0357 nonsynonymous_SNV exonic . 0.0090102 T . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . P D . . 0.0136 . 1 1 228559994 OBSCN C T 99 0.589058 0.5001 2.792 . . . . . . 0.6059 nonsynonymous_SNV exonic . 0.457226 T . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . B T . . 0.5033 . 3.5 1 228560034 OBSCN C T 1 0.013778 0.0008 . . . . . . . 0.0019 synonymous_SNV exonic . 0.0042626 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . 0.0005 . 1 1 228560139 OBSCN A G 187 0.974241 0.9212 . . . . . . . 0.9241 synonymous_SNV exonic . 0.816445 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . 0.9259 Name\x3d95.502104 2 1 228560251 OBSCN G C 1 0.000199681 . 2.276 . . . . . . . nonsynonymous_SNV exonic . 2.59e-05 T . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . B D . . . . 5 1 228560700 OBSCN T C 124 0.757987 0.5373 . . . . . . . 0.5552 synonymous_SNV exonic . 0.559029 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . 0.5485 . 1 1 228561779 OBSCN C T 1 0.00179712 0.0085 . . . . . . . . . intronic . 0.0010608 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . . . 3 1 228562350 OBSCN T C 1 0.00519169 0.0278 . . . . . . . 0.0255 synonymous_SNV exonic . 0.0183051 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . 0.0280 Name\x3d95.305033 2 1 228562523 OBSCN C G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . . . 5 1 228563558 OBSCN C A 1 0.000599042 0.0015 . . . . . . . 0.0012 . intronic . 0.0008473 . . . . . . . . 0.0011 . 2 1 228563748 OBSCN G A 1 0.000599042 0.0001 6.122 . . . . . . 0.0001 nonsynonymous_SNV exonic . 0.0003428 T . . . P D . . . Name\x3d96.913305 6 1 228564757 OBSCN C T 1 0.00878594 0.0003 6.283 . . . . . . 0.0013 nonsynonymous_SNV exonic . 0.0048059 T . . . D D . . 0.0004 . 5 1 228564796 OBSCN G A 1 0.000199681 . 4.260 . . . . . . 7.476e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . B D . . . . 4 1 228564884 OBSCN G A 17 0.140775 0.0993 1.749 . . . . . . 0.1456 nonsynonymous_SNV exonic . 0.101926 T . . . B T . . 0.0847 . 1.5 1 228565208 OBSCN C T 2 0.0117812 0.0428 . . . . . . . 0.0430 synonymous_SNV exonic . 0.0264744 . . . . . . . . 0.0354 . 0 1 228565209 OBSCN G A 1 0.00179712 0.0004 7.258 . . . . . . 0.0018 nonsynonymous_SNV exonic . 0.0011513 T . . . D D . . 0.0010 . 5 1 228565255 OBSCN T C 1 0.000199681 . 5.069 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . . 10 1 228565311 OBSCN G A 1 0.000199681 6.49e-05 6.702 . . . . . . 0.0002 nonsynonymous_SNV exonic . 0.0001423 T . . . D D . . 0.0001 Name\x3d95.017004 8 1 228565329 OBSCN G A 4 0.00499201 0.0178 3.334 . . . . . . 0.0229 nonsynonymous_SNV exonic . 0.0152197 T . . . B T . . 0.0231 Name\x3d95.583646 2.5 1 228565445 OBSCN C A 17 0.124201 0.0975 . . . . . . . 0.1002 . intronic . 0.104604 . . . . . . . . 0.0852 . 0 1 228565556 OBSCN T G 3 0.00479233 0.0108 . . . . . . . . . intronic . 0.0013777 . . . . . . . . . . 0 1 228565826 OBSCN T C 2 0.00279553 0.0164 . . . . . . . . . intronic . 0.010604 . . . . . . . . . . 0 1 228566528 OBSCN G A 1 0.000199681 . . . . . . . . 2.218e-05 . UTR3 . 1.29e-05 . . . . . . . . . . 4 1 229567663 ACTA1 C GG 43 . . . MedGen:CN169374 not_specified Benign . . . . . intronic . 0.0005627 . . . . . . . . . Name\x3d99.559150 11 1 229567683 ACTA1 TC T 43 0.209465 0.1611 . MedGen:CN169374 not_specified Benign . . . 0.1561 . intronic . 0.0049223 . . . . . . . . 0.1609 Name\x3d99.586072 1 1 229567826 ACTA1 G A 1 0.000199681 6.488e-05 . . . . . . . 9.425e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d99.939397 5 1 229568231 ACTA1 T G 213 0.999002 0.9994 . . . . Name\x3dENSR00000938431|Promoter . . . . intronic . 0.0001423 . . . . . . . . . Name\x3d98.588790 2 1 229568300 ACTA1 C A 1 0.000199681 0.0001 . MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN235628 Nemaline_myopathy|Familial_restrictive_cardiomyopathy|Congenital_fiber-type_disproportion Uncertain_significance Name\x3dENSR00000938431|Promoter . . 5.89e-05 . intronic . 3.88e-05 . . . . . . 0.6445 0.462 0.0002 Name\x3d99.849690 6.5 1 229568632 ACTA1 A G 44 0.273962 0.1623 . MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628 Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion Benign/Likely_benign . . Name\x3dMIMAT0000710|hsa-miR-365a-3p|Experimental 0.1806 . intronic . 0.204376 . . . . . . . 0.024 0.1807 Name\x3d99.613966 4 1 229568637 ACTA1 C G 44 0.211861 0.1605 . MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628 Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion Benign/Likely_benign . . Name\x3dMIMAT0000710|hsa-miR-365a-3p|Experimental 0.1768 . intronic . 0.183335 . . . . . . . 0.086 0.1751 Name\x3d99.613966 4 1 236849952 ACTN2 C T 11 0.0115815 0.0316 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000022391|Promoter . . 0.0376 . UTR5 . 0.0243076 . . Name\x3dOREG1497882|N/A|EGR1|PAZAR . . . . . 0.0399 Name\x3d99.706106 3 1 236849999 ACTN2 A G 1 0.000599042 0.0014 1.768 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000022391|Promoter . . 0.0010 nonsynonymous_SNV exonic . 0.0006921 T . Name\x3dOREG1497882|N/A|EGR1|PAZAR . B T . . 0.0008 Name\x3d99.831313 6.5 1 236881185 ACTN2 C T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.47e-05 . . . . . . . . 0.0001 Name\x3d99.696288 5 1 236882303 ACTN2 T C 214 0.992612 1 . MedGen:CN169374 not_specified Benign . . . 0.9999 synonymous_SNV exonic . 0.95645 . . . . . . . . 0.9998 Name\x3d99.683489 1 1 236883421 ACTN2 C T 214 0.920727 0.9946 . MedGen:CN169374 not_specified Benign . . . 0.9955 synonymous_SNV exonic . 0.949224 . . . . . . . . 0.9953 Name\x3d99.617908 1 1 236883564 ACTN2 G A 214 0.922324 0.9946 . . . . . . . . . intronic . 0.186459 . . . . . . . . . Name\x3d96.650803 1 1 236883585 ACTN2 T G 4 0.00179712 0.0071 . . . . . . . . . intronic . 0.001009 . . . . . . . . . Name\x3d95.772872 7 1 236894647 ACTN2 G A 69 0.491613 0.2910 . . . . . . . 0.3119 . intronic . 0.375403 . . . . . . . . 0.3102 Name\x3d95.564112 1 1 236894667 ACTN2 G A 1 0.000199681 0.0003 . . . . . . . . . intronic . 1.94e-05 . . . . . . . . 0.0006 . 2 1 236899042 ACTN2 G A 25 0.195887 0.1255 . MedGen:CN169374 not_specified Benign . . . 0.1382 . intronic . 0.15646 . . . . . . . . 0.1356 Name\x3d98.899984 1 1 236900334 ACTN2 C T 4 0.00119808 0.0014 . . . . . . . . . intronic . 0.0002458 . . . . . . . . . . 6 1 236900554 ACTN2 C T 4 0.00539137 0.0227 . . . . . . . 0.0226 . intronic . 0.0153879 . . Name\x3dOREG1497883|N/A|EGR1|PAZAR . . . . . 0.0266 Name\x3d99.362508 2 1 236900598 ACTN2 C T 158 0.531949 0.5332 . . . . . . . . . intronic . 0.0002305 . . Name\x3dOREG1497883|N/A|EGR1|PAZAR . . . . . . . 1 1 236902532 ACTN2 ATT A 8 0.0509185 0.0602 . . . . . . . . . intronic . 0.0096819 . . . . . . . . . . 0 1 236902560 ACTN2 C G,T 8 0.372404 0.6298 . . . . . . . 0.5992 . intronic . 0.500272 . . . . . . . . 0.6395 . 0 1 236902594 ACTN2 C G 172 0.767572 0.7883 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.7758 . intronic . 0.763173 . . . . . . 0.3121 . 0.7763 Name\x3d99.688691 1 1 236902865 ACTN2 A C 134 0.422724 0.6814 . . . . . . . 0.6662 . intronic . 0.559702 . . . . . . . . 0.6570 . 0 1 236907966 ACTN2 G A 3 0.0347444 0.0112 . 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 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0107 synonymous_SNV exonic . 0.0180399 . . . . . . . . 0.0144 Name\x3d99.379015 1 1 236908011 ACTN2 C T 1 0.000399361 0.0024 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736 Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0037 synonymous_SNV exonic . 0.002348 . . . . . . . . 0.0042 Name\x3d99.802534 3 1 236908053 ACTN2 C T 1 0.000998403 0.0014 . 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 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0012 synonymous_SNV exonic . 0.0009767 . . . . . . . . 0.0019 Name\x3d99.745310 3 1 236908144 ACTN2 T C 3 0.0189696 0.0106 . . . . . . . . . intronic . 0.0026714 . . . . . . . . . . 0 1 236911045 ACTN2 G A 1 0.000199681 6.481e-05 . MedGen:CN169374 not_specified Likely_benign . . . 7.559e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . . Name\x3d99.633162 5 1 236911122 ACTN2 C T 7 0.0782748 0.0384 . . . . . . . 0.0418 . intronic . 0.0524767 . . . . . . . . 0.0324 Name\x3d98.527607 1 1 236911137 ACTN2 A G 19 0.10623 0.0648 . . . . . . . . . intronic . 0.0167398 . . . . . . . . . Name\x3d96.490998 1 1 236912597 ACTN2 A G 25 0.189896 0.0945 . . . . . . . 0.1043 . intronic . 0.137657 . . . . . . . . 0.1073 . 0 1 236912622 ACTN2 T A 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 4 1 236914738 ACTN2 ATTGT A 6 0.0145767 0.0295 . . . . . . . 0.0324 . intronic . 0.0007891 . . . . . . . . 0.0320 Name\x3d98.696720,99.003311 1 1 236914754 ACTN2 T C 4 0.00119808 0.0013 . MedGen:C2677338,OMIM:612158|MedGen:CN169374 Dilated_cardiomyopathy_1AA|not_specified Benign . . . 0.0018 . intronic . 0.0011643 . . . . . . . . 0.0014 Name\x3d99.462539 7 1 236914923 ACTN2 A G 1 0.0195687 0.0003 0.771 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|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0005 nonsynonymous_SNV exonic . 0.0057244 T . . . B T . . 0.0014 Name\x3d99.909309 2.5 1 236920782 ACTN2 A G 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . 0.8759 0.846 . Name\x3d99.564547 6 1 236920960 ACTN2 A G 1 0.0215655 0.0004 . . . . . . . 0.0005 . intronic . 0.0064682 . . . . . . . . 0.0015 Name\x3d98.702438 1 1 236923197 ACTN2 C T 25 0.0664936 0.0629 . . . . . . . . . intronic . 0.01293 . . . . . . . . . Name\x3d97.679730 1 1 236924506 ACTN2 A G 188 0.798123 0.8953 . . . . . . . 0.8871 . intronic . 0.843572 . . . . . . . . 0.8909 Name\x3d95.962402 1 1 236925844 ACTN2 G A 32 0.196086 0.1434 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000939231|TF_binding_site . . 0.1441 synonymous_SNV exonic . 0.164118 . . . . . . . . 0.1392 Name\x3d99.699444 2 1 237205759 RYR2 G T 1 0.000599042 0.0005 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia Uncertain_significance Name\x3dENSR00000022413|Promoter . . . . UTR5 . 0.0001153 . . . . . . . . . Name\x3d97.442588 4 1 237205892 RYR2 G A 1 0.000998403 0.0021 . . . . Name\x3dENSR00000022413|Promoter . . 0.0023 . intronic . 0.0006274 . . . . . . . . 0.0016 Name\x3d99.662651 4 1 237519165 RYR2 G T 53 0.186901 0.2223 . . . . . . . . . intronic . 0.0393527 . . . . . . . . . Name\x3d98.947334 1 1 237527551 RYR2 A G 8 0.0103834 0.0183 . . . . . . . . . intronic . 0.00326 . . . . . . . . . Name\x3d97.889333 1 1 237532763 RYR2 T G 3 0.0189696 0.0414 . . . . . . . . . intronic . 0.0057955 . . . . . . . . . . 0 1 237532860 RYR2 A G 1 0.000199681 . . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Likely_benign . . . 0.0001 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d99.910213 5 1 237532996 RYR2 G A 2 0.000399361 0.0001 . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d95.744476 5 1 237540615 RYR2 A C 55 0.362819 0.2506 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.2500 . intronic . 0.282719 . . . . . . . 0.002 0.2293 Name\x3d99.244447 1 1 237551298 RYR2 C T 1 0.000399361 0.0003 . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d95.869764 5 1 237551376 RYR2 T A 120 0.55651 0.5469 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.5723 . intronic . 0.558725 . . . . . . 0.0001 0.008 0.5597 Name\x3d95.787306 1 1 237586384 RYR2 T C 24 0.170128 0.0876 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.1022 . intronic . 0.13527 . . . . . . 0.0001 0.006 0.0985 Name\x3d99.727925 1 1 237586449 RYR2 A T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.890199 5 1 237608663 RYR2 A G 2 0.000399361 6.486e-05 . . . . . . . 0.0002 . intronic . 0.00011 . . . . . . . . 0.0004 . 4 1 237608842 RYR2 C T 3 0.00658946 0.0075 . MedGen:CN169374 not_specified Benign . . . 0.0073 . intronic . 0.0078718 . . . . . . . . 0.0060 Name\x3d96.417798 7 1 237617757 RYR2 C T 125 0.535743 0.5983 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.5917 synonymous_SNV exonic . 0.569876 . . . . . . . . 0.6005 Name\x3d99.695180 1 1 237619875 RYR2 ATT ATTT,ATTTT,AT,A 125 0.0127796 0.0006 . . . . . . . 0.0166 . intronic . 0.000414 . . . . . . . . . Name\x3d95.923485 1 1 237619971 RYR2 T C 2 0.000399361 0.0008 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0007 synonymous_SNV exonic . 0.0004398 . . . . . . . . 0.0010 Name\x3d99.524418 3 1 237620049 RYR2 T C 118 0.53115 0.5515 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.5456 . intronic . 0.542658 . . . . . . . . 0.5441 Name\x3d99.072911 1 1 237620108 RYR2 G A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 1 237632512 RYR2 T C 1 0.00299521 0.0079 . . . . . . . 0.0081 . intronic . 0.0050581 . . . . . . . . 0.0092 . 2 1 237632514 RYR2 G T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 1 237655057 RYR2 C T 1 0.00139776 0.0015 . . . . . . . 0.0013 . intronic . 0.0006015 . . . . . . . . 0.0022 Name\x3d95.435834 3 1 237655173 RYR2 A T 8 0.0215655 0.0228 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0403 synonymous_SNV exonic . 0.0136544 . . . . . . . . 0.0180 Name\x3d99.835212 1 1 237655267 RYR2 T C 6 0.00399361 0.0129 . . . . . . . 0.0142 . intronic . 0.0043984 . . . . . . . . 0.0049 Name\x3d95.462747 1 1 237656185 RYR2 A G 80 0.396565 9.889e-05 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 1 237656289 RYR2 C T 2 0.00219649 0.0055 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0132 synonymous_SNV exonic . 0.0048124 . . . . . . . . 0.0083 Name\x3d99.931995 1 1 237664004 RYR2 C G 5 0.00459265 0.0180 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.0121 . intronic . 0.0090555 . . . . . . 0.0039 0.1 0.0124 Name\x3d99.334388 1 1 237670140 RYR2 A G 143 0.699481 0.6675 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000939271|Enhancer . . 0.6666 . intronic . 0.653497 . . . . . . . . 0.6578 Name\x3d99.757939 2 1 237670190 RYR2 C T 1 0.00119808 6.484e-05 . . . . Name\x3dENSR00000939271|Enhancer . . . . intronic . 0.0002689 . . . . . . . . . Name\x3d98.734137 4 1 237675150 RYR2 A AG 55 0.343251 0.1630 . . . . . . . . . intronic . 0.0001537 . . Name\x3dOREG1491355|N/A|EGR1|PAZAR . . . . . . . 1 1 237675152 RYR2 A C 1 0.00239617 0.0080 . . . . . . . . . intronic . 0.0020363 . . Name\x3dOREG1491355|N/A|EGR1|PAZAR . . . . . . . 3 1 237675163 RYR2 G A 81 0.295327 0.4259 . . . . . . . . . intronic . 0.3502 . . Name\x3dOREG1491355|N/A|EGR1|PAZAR . . . . . . . 1 1 237693662 RYR2 C T 3 0.0323482 0.0096 . . . . . . . . . intronic . 0.0004995 . . . . . . . . . . 0 1 237711797 RYR2 A G 201 0.830272 0.9564 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.9592 synonymous_SNV exonic . 0.908384 . . . . . . . . 0.9585 Name\x3d99.734657 1 1 237730059 RYR2 C T 1 0.00239617 0.0143 2.658 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0112 nonsynonymous_SNV exonic . 0.0074579 T . Name\x3dOREG1710412|N/A|HNF4A|PAZAR . B T . . 0.0130 Name\x3d99.926699 3.5 1 237730124 RYR2 A G 205 0.905551 0.9705 . MedGen:CN169374 not_specified Benign . . . 0.9734 . intronic . 0.932155 . . Name\x3dOREG1710412|N/A|HNF4A|PAZAR . . . . . 0.9754 . 1 1 237732395 RYR2 G A 150 0.492812 0.7082 . MedGen:CN169374 not_specified Benign . . . 0.7160 . intronic . 0.621635 . . . . . . . . 0.7105 Name\x3d96.925715 1 1 237732617 RYR2 A G 1 0.000199681 . 4.237 MedGen:CN169374 not_specified Uncertain_significance . . . 2.081e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B D 0.3523 0.482 . Name\x3d99.870532 5 1 237732673 RYR2 C T 1 0.0197684 0.0506 . . . . . . . . . intronic . 0.0083958 . . . . . . . . . . 0 1 237732684 RYR2 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 1 237753074 RYR2 AT ATT,A 1 0.285144 0.4491 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign/Likely_benign . . . 0.4997 . intronic . 0.012005 . . . . . . . . 0.4430 Name\x3d97.178351 1 1 237753364 RYR2 A C 101 0.336861 0.4881 . . . . . . . . . intronic . 0.0869329 . . . . . . . . . . 0 1 237754020 RYR2 C T 1 0.000599042 0.0009 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0012 synonymous_SNV exonic . 0.000705 . . . . . . . . 0.0008 Name\x3d99.898378 3 1 237754340 RYR2 A G 100 0.33746 0.4849 . MedGen:CN169374 not_specified Benign . . . 0.4852 . intronic . 0.407239 . . . . . . . . 0.4731 . 0 1 237754963 RYR2 A G 6 0.0071885 0.0275 . . . . . . . . . intronic . 0.0038033 . . . . . . . . . . 0 1 237755076 RYR2 A G 6 0.0071885 0.0275 1.769 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0248 nonsynonymous_SNV exonic . 0.0174319 T . . . B T . . 0.0218 Name\x3d99.848202 2.5 1 237755188 RYR2 C T 100 0.335863 0.4863 . MedGen:CN169374 not_specified Benign . . . 0.5113 . intronic . 0.409678 . . . . . . . . 0.4748 . 0 1 237755203 RYR2 T C 100 0.33746 0.4886 . MedGen:CN169374 not_specified Benign . . . 0.4854 . intronic . 0.401948 . . . . . . . . 0.4624 . 0 1 237759023 RYR2 C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d96.913877 5 1 237765458 RYR2 G T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 1 237765470 RYR2 A T 96 0.293131 0.4713 . . . . . . . . . intronic . 0.0832589 . . . . . . . . 0.4598 . 0 1 237774017 RYR2 A G 2 0.00159744 0.0055 . . . . . . . 0.0068 . intronic . 0.0023286 . . . . . . . . 0.0037 Name\x3d97.185930 3 1 237778082 RYR2 G A 6 0.00978435 0.0282 -1.771 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0232 nonsynonymous_SNV exonic . 0.0164163 T . . . B T . . 0.0234 Name\x3d99.715638 2.5 1 237778084 RYR2 G A 7 0.076278 0.0262 0.814 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0308 nonsynonymous_SNV exonic . 0.0419917 T . . . B T . . 0.0311 Name\x3d99.715638 2.5 1 237780803 RYR2 A G 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d96.798190 5 1 237794913 RYR2 A ATT 77 0.553315 . . . . . . . . . . intronic . 0.106462 . . . . . . . . . . 0 1 237796837 RYR2 G A 64 0.428514 0.3475 . MedGen:CN169374 not_specified Benign . . . 0.3283 . intronic . 0.0018887 . . . . . . . . 0.3323 Name\x3d98.575087 1 1 237796850 RYR2 A G 7 0.155152 0.0596 . MedGen:CN169374 not_specified Benign . . . 0.0626 . intronic . 0.0018887 . . . . . . . . 0.0561 Name\x3d99.279769 1 1 237797082 RYR2 T G 64 0.440695 0.3478 . . . . . . . . . intronic . 0.0714933 . . . . . . . . . . 0 1 237798342 RYR2 G A 17 0.029353 0.1204 . MedGen:CN169374 not_specified Likely_benign . . . 0.1126 . intronic . 0.054346 . . . . . . . . 0.1161 . 0 1 237801770 RYR2 T C 214 0.954872 0.9999 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.9997 synonymous_SNV exonic . 0.937362 . . . . . . . . 0.9994 Name\x3d99.920601 1 1 237802559 RYR2 T C 214 0.998203 0.9999 . . . . . . . . . intronic . 0.0001537 . . . . . . . . . . 0 1 237806606 RYR2 G GT 1 0.0129792 0.0004 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0007 . intronic . 0.0002199 . . . . . . . . 0.0006 . 0 1 237806819 RYR2 G A 23 0.14357 0.0994 . . . . . . . . . intronic . 0.02238 . . . . . . . . . . 0 1 237811766 RYR2 C T 2 0.00159744 0.0062 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0080 synonymous_SNV exonic . 0.003965 . . . . . . . . 0.0067 Name\x3d99.929263 3 1 237811896 RYR2 G A 1 0.000399361 6.483e-05 7.278 . . . . . . 0.0004 nonsynonymous_SNV exonic . 0.0001617 D . . . D D . . 0.0001 Name\x3d99.909780 11 1 237813126 RYR2 A G 92 0.573083 0.4505 . . . . . . . . . intronic . 0.0942032 . . . . . . . . . . 0 1 237814783 RYR2 C T 91 0.554912 0.4479 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4775 synonymous_SNV exonic . 0.427834 . . . . . . . . 0.4361 Name\x3d99.838067 1 1 237814843 RYR2 C T 1 0.00219649 . . . . . . . . . . intronic . 7.76e-05 . . . . . . . . . Name\x3d98.516597 3 1 237817514 RYR2 GA G 40 0.447484 0.2619 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 1 237817784 RYR2 A G 33 0.353435 0.2131 . . . . . . . . . intronic . 0.0061088 . . . . . . . . . . 0 1 237823256 RYR2 A C 12 0.0407348 0.0512 . MedGen:CN169374 not_specified Benign . . . 0.0815 . intronic . 0.0431366 . . . . . . . . 0.0530 Name\x3d98.534701 1 1 237823258 RYR2 A C 1 0.000199681 . . . . . . . . 3.126e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.534701 5 1 237829952 RYR2 G A 2 0.00119808 0.0026 . . . . . . . . . intronic . 0.0002329 . . . . . . . . 0.0041 Name\x3d99.348525 3 1 237831103 RYR2 C A 214 0.952077 0.9999 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 1 237831365 RYR2 C T 1 0.000998403 0.0030 . . . . . . . . . intronic . 0.0029584 . . . . . . . . . . 2 1 237838001 RYR2 G A 2 0.00179712 0.0131 . . . . . . . 0.0149 . intronic . 0.0064359 . . . . . . . . 0.0079 Name\x3d98.106732 1 1 237841339 RYR2 A C 1 0.000199681 0.0003 . Human_Phenotype_Ontology:HP:0001627,MedGen:C4021866|Human_Phenotype_Ontology:HP:0001688,MedGen:C0085610|Human_Phenotype_Ontology:HP:0001714,MedGen:C0340279|Human_Phenotype_Ontology:HP:0005184,MedGen:C1560305|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|Human_Phenotype_Ontology:HP:0012630,MedGen:C4022814|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN517202 Abnormal_heart_morphology|Sinus_bradycardia|Ventricular_hypertrophy|Prolonged_QTc_interval|Left_ventricular_noncompaction_cardiomyopathy|Abnormality_of_the_trabecular_meshwork|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000939276|Enhancer . . 0.0005 . intronic . 0.0002005 . . . . . . . . 0.0001 Name\x3d99.653611 4 1 237841390 RYR2 A G 54 0.0992412 0.3164 2.365 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign Name\x3dENSR00000939276|Enhancer . . 0.3501 nonsynonymous_SNV exonic rs34967813|Smoking-initiation-(ever-regular-vs-never-regular)|0.011|8E-7|PMID:30679032 0.216757 T . . . B T . . 0.3042 Name\x3d99.917075 3.5 1 237841393 RYR2 A C 1 0.000199681 . 4.217 . . . Name\x3dENSR00000939276|Enhancer . . 8.159e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . D D . . . Name\x3d99.944688 9 1 237850666 RYR2 C CT 151 0.561102 . . . . . . . . . . intronic . 0.0002305 . . . . . . . . . Name\x3d98.965336 1 1 237850703 RYR2 C T 6 0.00559105 . . . . . Name\x3dENSR00000391365|Enhancer . . . . intronic . 0.0010758 . . . . . . . . . Name\x3d99.661070 12 1 237850729 RYR2 C T 10 0.00958466 . . . . . Name\x3dENSR00000391365|Enhancer . . . . intronic . 0.0003105 . . . . . . . . . Name\x3d99.671939 12 1 237850816 RYR2 C T 1 0.000399361 0.0018 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000391365|Enhancer . . 0.0027 . intronic . 0.0014812 . . . . . . . . 0.0024 Name\x3d99.902829 4 1 237862360 RYR2 A G 1 0.000199681 6.488e-05 . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 1 237862421 RYR2 T A 1 0.000199681 0.0012 . . . . . . . . . intronic . 0.0005763 . . . . . . . . . Name\x3d98.278148 3 1 237862436 RYR2 T C 155 0.727436 0.7497 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 1 237863718 RYR2 T G 214 0.969249 0.9994 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.9994 synonymous_SNV exonic rs2797436|Adolescent-idiopathic-scoliosis||7E-7|PMID:30019117 0.971902 . . . . . . . . 0.9995 Name\x3d99.940279 1 1 237865203 RYR2 C T 214 0.969249 0.9995 . . . . . . . . . intronic . 0.193756 . . . . . . . . . . 0 1 237865451 RYR2 C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d97.813096 5 1 237870203 RYR2 C T 6 0.00579073 0.0095 . . . . . . . 0.0102 . intronic . 0.0080788 . . . . . . . . 0.0128 . 0 1 237870542 RYR2 G A 1 0.000199681 6.481e-05 4.327 . . . . . . 3.394e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . B T . . . Name\x3d99.921260 5 1 237872714 RYR2 GT G 208 0.765974 0.9867 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 1 237872887 RYR2 T C 6 0.00938498 0.0116 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0187 . intronic . 0.0106079 . . . . . . . . 0.0166 . 0 1 237875040 RYR2 C T 1 0.000599042 0.0001 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0016 . intronic . 0.0004916 . . . . . . 0.0002 0.068 0.0004 Name\x3d99.774261 3 1 237875068 RYR2 C T 1 0.00339457 0.0031 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0056 synonymous_SNV exonic . 0.00315 . . . . . . . . 0.0033 Name\x3d99.907421 3 1 237880443 RYR2 G A 1 0.00159744 0.0017 . . . . . . . . . intronic . 0.0003105 . . . . . . . . . . 2 1 237881770 RYR2 C T 214 0.960463 0.9996 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.9994 synonymous_SNV exonic . 0.966372 . . . . . . . . 0.9995 Name\x3d99.933581 1 1 237890437 RYR2 C T 214 0.960264 0.9996 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.9994 synonymous_SNV exonic . 0.969903 . . . . . . . . 0.9995 Name\x3d99.855105 1 1 237893674 RYR2 C T 214 0.985224 0.9998 . MedGen:CN169374 not_specified Benign . . . 0.9998 . intronic . 0.0001035 . . . . . . . . 0.9998 . 0 1 237905520 RYR2 A G 1 0.000599042 0.0010 . . . . . . . . . intronic . 0.0006147 . . . . . . . . . . 2 1 237905568 RYR2 T TC 61 0.195088 0.2767 . . . . . . . 0.2293 . intronic . 0.0009573 . . . . . . . . 0.2912 . 0 1 237905586 RYR2 A T 1 0.0081869 0.0011 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia Likely_benign . . . 0.0002 . intronic . 0.000304 . . . . . . . 0.012 . Name\x3d95.029922 3 1 237923053 RYR2 C T 147 0.761581 0.6807 . MedGen:CN169374 not_specified Benign . . . 0.6863 . intronic . 0.69688 . . Name\x3dOREG1118953|N/A|USF2|JASPAR,OREG1880749|N/A|STAT1|PAZAR . . . . . 0.6923 Name\x3d99.580996 2 1 237923243 RYR2 A G 18 0.0930511 0.1049 . . . . . . . . . intronic . 0.0208277 . . Name\x3dOREG1880749|N/A|STAT1|PAZAR . . . . . . . 1 1 237934206 RYR2 C T 2 0.0061901 0.0295 . MedGen:CN169374 not_specified Benign . . . 0.0200 . intronic . 0.0080853 . . . . . . . . 0.0227 . 0 1 237941906 RYR2 C A 6 0.00978435 0.0126 . . . . . . . . . intronic . 0.0027555 . . . . . . . . . Name\x3d98.512987 1 1 237941945 RYR2 G A 7 0.0445288 0.0476 . MedGen:CN169374 not_specified Likely_benign . . . 0.0420 . intronic . 0.0432336 . . . . . . . . 0.0458 Name\x3d99.408047 1 1 237942082 RYR2 AACTG A 6 0.00978435 0.0126 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.0137 . intronic . 0.0003299 . . . . . . . . 0.0158 Name\x3d98.351284 1 1 237944814 RYR2 C T 21 0.121006 0.0815 . . . . . . . . . intronic . 0.0197022 . . . . . . . . 0.0998 Name\x3d98.616522 1 1 237946964 RYR2 T C 65 0.414736 0.3402 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.4705 . intronic . 0.356794 . . . . . . 0.0017 0.088 0.3387 Name\x3d99.603074 1 1 237947000 RYR2 C T 6 0.0123802 0.0133 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0168 synonymous_SNV exonic . 0.0119403 . . . . . . . . 0.0173 Name\x3d99.891071 1 1 237948286 RYR2 A G 4 0.0107827 0.0080 0.618 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.0150 . intronic . 0.0069598 . . . . . . . . 0.0092 Name\x3d96.383836 1 1 237949440 RYR2 C G 1 0.000199681 6.48e-05 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 1 237949456 RYR2 T C 15 0.0407348 0.0576 . . . . . . . . . intronic . 0.0114552 . . . . . . . . . . 0 1 237951226 RYR2 A G 2 0.0397364 0.0355 . . . . . . . . . intronic . 0.0062806 . . . . . . . . . . 0 1 237951451 RYR2 A G 113 0.636581 0.5359 . MedGen:CN169374 not_specified Benign . . . 0.5482 . intronic . 0.549178 . . . . . . . . 0.5443 Name\x3d98.585776 1 1 237951482 RYR2 G A 62 0.297923 0.2812 . MedGen:CN169374 not_specified Benign . . . 0.2886 . intronic . 0.252616 . . . . . . . . 0.2861 . 0 1 237955364 RYR2 A G 14 0.0535144 0.0309 . MedGen:C4053736,OMIM:604772|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia_type_1|not_specified Benign . . . 0.0437 . intronic . 0.0291523 . . . . . . . . 0.0312 Name\x3d98.918745 1 1 237955649 RYR2 CTGTG C 107 0.528155 0.3917 . . . . . . . 0.4759 . intronic . 0.0001811 . . . . . . . . . Name\x3d97.395491 1 1 237955678 RYR2 T C 107 0.528155 0.3919 . . . . . . . . . intronic . 0.12452 . . . . . . . . . . 0 1 237955680 RYR2 T C 107 0.528155 0.3890 . . . . . . . . . intronic . 0.0216306 . . . . . . . . . . 0 1 237957146 RYR2 G A 125 0.734026 0.6737 . MedGen:CN169374 not_specified Benign . . . 0.6640 . intronic . 0.676544 . . . . . . . . 0.6579 Name\x3d99.475319 1 1 237957161 RYR2 A G 127 0.757588 0.6923 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.6874 . intronic . 0.0035252 . . . . . . . . 0.6785 Name\x3d99.755143 1 1 237957309 RYR2 A C 123 0.750799 0.6834 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.6716 . intronic . 0.709325 . . . . . . . . 0.6684 Name\x3d99.758262 1 1 237958750 RYR2 A AT 109 0.647764 0.6656 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 1 237961297 RYR2 A ATGGTTGTGGTTG 5 0.00938498 . . . . . . . . . . intronic . 3.23e-05 . . . . . . . . . Name\x3d98.011046 11 1 237965065 RYR2 C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 1 237965094 RYR2 G T 80 0.46226 0.4175 . . . . . . . . . intronic . 0.0807816 . . . . . . . . . . 0 1 237965131 RYR2 G A 80 0.405152 0.4121 . MedGen:CN169374 not_specified Benign . . . 0.4119 . intronic . 0.392524 . . . . . . . . 0.4032 Name\x3d98.355954 1 1 237965133 RYR2 A AT 70 0.377995 0.3775 . MedGen:CN169374 not_specified Likely_benign . . . 0.3296 . intronic . 0.00011 . . . . . . . . . Name\x3d98.355954 1 1 237969638 RYR2 A G 35 0.28774 0.2109 . . . . . . . . . intronic . 0.0436864 . . . . . . . . . . 0 1 237972148 RYR2 C A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 1 237972152 RYR2 T C 4 0.0091853 0.0073 . . . . . . . 0.0084 . intronic . 0.0086157 . . . . . . . . 0.0078 Name\x3d98.006337 7 1 237972189 RYR2 A G 4 0.0091853 0.0073 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.0084 . intronic . 0.0083699 . . . . . . 0.0005 0.024 0.0078 Name\x3d99.692462 7 1 237991614 RYR2 G C 1 0.00179712 0.0090 . . . . . . . . . intronic . 0.001533 . . . . . . . . 0.0060 Name\x3d95.002539 3 1 237991767 RYR2 T C 5 0.00938498 0.0080 . . . . . . . 0.0120 . intronic . 0.0062418 . . . . . . . . 0.0072 . 0 1 237991862 RYR2 TG T 10 0.0209665 0.0731 . . . . . . . . . intronic . 0.0106808 . . . . . . . . . . 0 1 237993743 RYR2 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 1 237993798 RYR2 C T 3 0.00159744 0.0032 . . . . . . . 0.0039 . intronic . 0.0029366 . . . . . . . . 0.0037 Name\x3d98.902368 7 1 237994957 RYR2 G A 1 0.158347 0.0057 . . . . . . . . . intronic . 0.0097347 . . . . . . . . . . 0 1 237996016 RYR2 C G 1 0.000199681 . . . . . Name\x3dENSR00000391398|Enhancer . . . . UTR3 . 3.84e-05 . . . . . . . . . Name\x3d99.642075 6 20 30407387 MYLK2 G A 4 0.00119808 0.0031 4.332 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000648953|Promoter . . 0.0012 nonsynonymous_SNV exonic . 0.0005304 T . . . B T . . 0.0016 Name\x3d99.951784 7.5 20 30408306 MYLK2 C G 7 0.00838658 0.0205 4.119 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 Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000648953|Promoter . . 0.0189 nonsynonymous_SNV exonic . 0.0137838 T . . . D D . . 0.0202 Name\x3d99.842390 3 20 30409207 MYLK2 G A 1 0.000599042 . . . . . . . . . . intronic . 0.0001164 . . . . . . . . . Name\x3d99.313475 1 20 30409452 MYLK2 T C 23 0.0720847 0.0658 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign . . . 0.0781 synonymous_SNV exonic . 0.0680134 . . . . . . . . 0.0802 Name\x3d99.852089 -1 20 30409573 MYLK2 C T 23 0.071885 0.0644 . . . . . . . 0.0779 . intronic . 0.0620302 . . . . . . . . 0.0706 Name\x3d99.005837 -1 20 30409584 MYLK2 G C 14 0.0549121 0.1192 . . . . . . . 0.1262 . intronic . 0.0890868 . . . . . . . . 0.1195 Name\x3d99.030764 -1 20 30411427 MYLK2 T C 23 0.0720847 0.0658 . . . . . . . 0.0785 . intronic . 0.0670366 . . . . . . . . 0.0802 Name\x3d98.478916 -1 20 30412101 MYLK2 C T 1 0.00599042 0.0167 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Benign . . . 0.0164 synonymous_SNV exonic . 0.0114358 . . Name\x3dOREG1501378|N/A|EGR1|PAZAR . . . . . 0.0193 Name\x3d99.904036 0 20 30414334 MYLK2 G A 23 0.0720847 0.0656 . . . . . . . . . intronic . 0.0139196 . . . . . . . . . Name\x3d95.528867 -1 20 30414503 MYLK2 C T 5 0.00499201 0.0134 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0156 synonymous_SNV exonic . 0.0106661 . . . . . . . . 0.0185 Name\x3d99.912412 -1 20 30414528 MYLK2 G A 5 0.00958466 0.0262 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign . . . 0.0307 . intronic . 0.0202779 . . . . . . . . 0.0265 Name\x3d99.326815 -1 20 30414560 MYLK2 C G 23 0.0720847 0.0658 . . . . . . . 0.0782 . intronic . 0.0672824 . . . . . . . . 0.08 Name\x3d96.392839 -1 20 30414578 MYLK2 G A 7 0.0201677 0.0408 . . . . . . . 0.0438 . intronic . 0.0336218 . . . . . . . . 0.0469 Name\x3d96.809468 -1 20 30414621 MYLK2 C T 1 0.0081869 0.0293 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Benign/Likely_benign . . . 0.0228 synonymous_SNV exonic . 0.0202326 . . . . . . . . 0.0216 Name\x3d99.897062 -1 20 30418996 MYLK2 G A 4 0.00179712 0.0056 . . . . . . . 0.0047 . intronic . 0.003454 . . . . . . . . 0.0048 Name\x3d99.292048 5 20 30419595 MYLK2 C T 1 0.000199681 . 5.477 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d99.937496 3 20 30419954 MYLK2 A G 23 0.0722843 0.0641 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign . . . 0.0914 . intronic . 0.0641389 . . . . . . . . 0.0755 Name\x3d98.672132 -1 20 30421459 MYLK2 C T 44 0.222444 0.2209 . . . . . . . . . intronic . 0.0385571 . . . . . . . . 0.2040 Name\x3d98.357362 1 20 31996336 SNTA1 T G 2 0.0365415 . 3.397 . . . . . . 3.7e-05 nonsynonymous_SNV exonic . 0.0011837 D . . . D D . . . Name\x3d99.679101 2 20 32000351 SNTA1 A G 144 0.6877 0.6871 . . . . . . . 0.6933 . intronic . 0.682941 . . Name\x3dOREG1187476|N/A|TFAP2C|PAZAR . . . . . 0.6893 Name\x3d96.216822 0 20 32000462 SNTA1 C T 2 0.0071885 0.0176 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity Name\x3dENSR00001050272|Enhancer . . 0.0138 synonymous_SNV exonic . 0.0109184 . . Name\x3dOREG1187476|N/A|TFAP2C|PAZAR . . . . . 0.0195 Name\x3d99.409965 1 20 32000520 SNTA1 G C 2 0.000998403 0.0041 4.849 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2751830,OMIM:612955|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_12|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity Name\x3dENSR00001050272|Enhancer . . 0.0033 nonsynonymous_SNV exonic . 0.0019211 T . Name\x3dOREG1524827|N/A|ESR1|PAZAR,OREG1533887|N/A|ESR1|PAZAR,OREG1187476|N/A|TFAP2C|PAZAR . D D . . 0.0030 Name\x3d99.220788 6 20 32031206 SNTA1 G A 2 0.000599042 0.0039 1.143 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2751830,OMIM:612955|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_12|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000136252|Promoter . . 0.0029 nonsynonymous_SNV exonic . 0.0003881 T . Name\x3dOREG1187477|N/A|TFAP2C|PAZAR . B D . . . Name\x3d99.787778 3 20 32031227 SNTA1 G A 1 0.000199681 . 1.553 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN517202 Long_QT_syndrome|not_provided Uncertain_significance Name\x3dENSR00000136252|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1187477|N/A|TFAP2C|PAZAR . B T . . . Name\x3d99.791355 6.5 20 42743454 JPH2 A G 66 0.257388 0.3044 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign . . . 0.3514 synonymous_SNV exonic . 0.247313 . . . . . . . . 0.3065 Name\x3d99.674575 1 20 42743559 JPH2 G A 1 0.000199681 6.498e-05 . . . . . . . . . intronic . 5.82e-05 . . . . . . . . . Name\x3d97.652494 5 20 42743616 JPH2 G C 6 0.00499201 0.0136 . . . . . . . . . intronic . 0.0117566 . . . . . . . . . . 0 20 42744265 JPH2 G C 14 0.104433 0.0738 . . . . . . . 0.0727 . intronic . 0.0727352 . . . . . . . . 0.0740 Name\x3d97.935933 1 20 42744587 JPH2 G C 51 0.152955 0.2304 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign . . . 0.2773 synonymous_SNV exonic . 0.139054 . . . . . . . . 0.1887 Name\x3d99.775908 1 20 42744802 JPH2 C T 3 0.0153754 0.0080 0.202 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign . . . 0.0368 nonsynonymous_SNV exonic . 0.003564 T . . . B T . . 0.004 Name\x3d99.737037 2.5 20 42745033 JPH2 G A 4 0.00738818 0.0318 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified Benign . . . 0.0248 . intronic . 0.0055627 . . . . . . 0.0001 . . Name\x3d99.475903 1 20 42747247 JPH2 C T 28 0.270367 0.1302 5.490 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign . . . 0.1342 nonsynonymous_SNV exonic . 0.17732 T . . . D T . . 0.1290 Name\x3d99.436092 4 20 42747254 JPH2 G A 25 0.048722 0.1011 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign . . . 0.0930 synonymous_SNV exonic . 0.0727675 . . . . . . . . 0.1027 Name\x3d99.604477 1 20 42789053 JPH2 G A 1 0.00199681 0.0022 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified Benign . . . 0.0030 . intronic . 0.002652 . . . . . . 0.0011 0.02 0.0021 Name\x3d99.791148 3 20 42789056 JPH2 G C 1 0.00299521 0.0053 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified Benign . . . 0.0063 . intronic . 0.0036545 . . . . . . 0.0001 0.048 0.0027 Name\x3d99.791148 3 20 42806581 JPH2 G A 1 0.000199681 . . . . . . . . 1.84e-05 . UTR3 . 1.94e-05 . . . . . . . . . . 4 20 42806597 JPH2 C T 1 0.000399361 . . . . . . . . 1.84e-05 . UTR3 . 3.88e-05 . . . . . . . . . Name\x3d97.594677 5 20 42814931 JPH2 T C 175 0.862819 0.8303 . . . . Name\x3dENSR00000137483|Promoter . . 0.8275 . intronic . 0.827687 . . . . . . . . 0.8244 Name\x3d96.717802 2 20 42815190 JPH2 G A 175 0.854233 0.8376 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype|not_provided Benign Name\x3dENSR00000137483|Promoter . . 0.8318 synonymous_SNV exonic . 0.83832 . . . . . . . . 0.8293 Name\x3d99.918953 2 20 61039958 GATA5 T C 100 0.629193 0.5371 . . . . . . . 0.5140 synonymous_SNV exonic . 0.532716 . . . . . . . . 0.5094 Name\x3d95.655235 -1 20 61040014 GATA5 C T 1 0.000399361 6.57e-05 1.651 . . . . . . 0.0001 nonsynonymous_SNV exonic . 1.29e-05 D . . . B T . . 0.0002 Name\x3d96.984617 3 20 61040453 GATA5 C G 94 0.534545 0.5035 . . . . . . . 0.4900 synonymous_SNV exonic . 0.469942 . . Name\x3dOREG1413158|N/A|E2F1|PAZAR . . . . . 0.4841 Name\x3d96.786518 0 20 61040951 GATA5 C T 95 0.529553 0.4987 . . . . . . . 0.5504 synonymous_SNV exonic . 0.442724 . . . . . . . . 0.4776 Name\x3d98.086064 -1 20 61040991 GATA5 C T 1 0.000199681 0.0004 . . . . . . . 0.0003 . intronic . 9.06e-05 . . . . . . . . 0.0002 . 2 20 61041422 GATA5 C T 1 0.000399361 . . . . . . . . . . intronic . 0.0001921 . . Name\x3dOREG1485716|N/A|EGR1|PAZAR . . . . . . . 3 20 61041640 GATA5 G A 1 0.000599042 0.0011 . . . . . . . 0.0024 . intronic . 0.0004981 . . Name\x3dOREG1485716|N/A|EGR1|PAZAR . . . . . 0.0010 . 1 20 61041651 GATA5 G A 1 0.000199681 . . . . . . . . . . intronic . 5.17e-05 . . Name\x3dOREG1485716|N/A|EGR1|PAZAR . . . . . . . 3 20 61041653 GATA5 G C 94 0.420327 0.4121 . . . . . . . 0.4391 . intronic rs6061244|Benign-prostatic-hyperplasia-and-lower-urinary-tract-symptoms-(prostate-cancer-excluded)|1.0869565|3E-10|PMID:30410027 0.175043 . . Name\x3dOREG1485716|N/A|EGR1|PAZAR . . . . . 0.3733 . -1 20 61048460 GATA5 A G 2 0.00219649 0.0016 3.750 . . . Name\x3dENSR00000657241|Promoter . . 0.0032 nonsynonymous_SNV exonic . 0.001216 D . . . P D 0.4452 0.502 0.0014 Name\x3d98.107154 5 20 61048549 GATA5 G A 94 0.388179 0.4329 . . . . Name\x3dENSR00000657241|Promoter . . 0.4697 synonymous_SNV exonic . 0.383902 . . . . . . . . 0.4344 Name\x3d98.040156 0 20 61050082 GATA5 C T 1 0.00239617 . 2.628 . . . Name\x3dENSR00000657241|Promoter . . . nonsynonymous_SNV exonic . 0.0006598 T . Name\x3dOREG1485709|N/A|EGR1|PAZAR . B T . . 0.0001 Name\x3d98.801386 4.5 20 61050154 GATA5 A G 1 0.000599042 0.0006 4.737 MedGen:CN169374 not_specified Uncertain_significance Name\x3dENSR00000657241|Promoter . . 0.0064 nonsynonymous_SNV exonic . 0.0003493 D . Name\x3dOREG1485709|N/A|EGR1|PAZAR . D D . . 0.0002 Name\x3d98.308121 6 20 61050379 GATA5 T G 35 0.142572 0.1795 0.113 . . . Name\x3dENSR00000657241|Promoter . . 0.375 nonsynonymous_SNV exonic . 0.0343851 T . Name\x3dOREG1485709|N/A|EGR1|PAZAR . B T . . . Name\x3d97.830015 2.5 20 61050552 GATA5 G C 1 0.000998403 . 1.970 . . . Name\x3dENSR00000657241|Promoter . . . nonsynonymous_SNV exonic . 5.17e-05 D . Name\x3dOREG1485709|N/A|EGR1|PAZAR . P D . . . Name\x3d98.522779 6 20 61050625 GATA5 G A 5 0.101837 0.0091 . . . . Name\x3dENSR00000657241|Promoter . . 0.0275 . intronic . 0.0207242 . . Name\x3dOREG1485709|N/A|EGR1|PAZAR . . . . . 0.0070 . 0 21 35742722 KCNE2 C T 34 0.286941 0.1455 . . . . . . . . . intronic . 0.0366101 . . . . . . . . . Name\x3d98.361661 -1 21 35742750 KCNE2 A G 4 0.0744808 0.0284 . MedGen:CN169374 not_specified Benign . . . 0.0272 . intronic . 0.0386023 . . . . . . . . 0.0316 Name\x3d98.254505 -1 21 35742947 KCNE2 T C 2 0.000798722 0.0001 5.453 MedGen:C0003811,OMIM:115000|MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiac_arrhythmia|Long_QT_syndrome_6|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0011 nonsynonymous_SNV exonic . 0.0008603 D . . . D D . . 0.0002 Name\x3d99.905103 7 21 35821609 na G A 1 0.000199681 . . . . . . . . 3.699e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d99.597612 3 21 35821680 na C T 1 0.00379393 0.0104 2.892 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C1867904,OMIM:613695|MedGen:C3150956|MedGen:C3150957|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Long_QT_syndrome_5|Long_QT_syndrome_5,_acquired,_susceptibility_to|Long_QT_syndrome_2/5|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity,_other,_risk_factor . . . 0.0134 nonsynonymous_SNV exonic rs1805128|QT-interval|7.409|3E-15|PMID:30679814 0.0092431 T . . . P D . . 0.0122 Name\x3d99.562698 -1 21 35821821 na T C 127 0.673922 0.6452 -1.420 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 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Hearing_loss,_noise-induced,_susceptibility_to|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.6427 nonsynonymous_SNV exonic . 0.640548 T . . . B T . . 0.6369 Name\x3d99.420721 0.5 21 35821849 na C T 1 0.00379393 0.0055 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0054 synonymous_SNV exonic . 0.0039003 . . . . . . . . 0.0056 Name\x3d99.547099 1 21 35821939 KCNE1B C T 1 0.000399361 . 0.846 . . . . . . . nonsynonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.577943 4.5 22 19864694 TXNRD2 C T 1 0.000199681 0.0003 . MedGen:CN169374 not_specified Likely_benign . . . 0.0005 unknown exonic . 0.0006015 . . Name\x3dOREG1513432|N/A|EGR1|PAZAR . . . . . 0.0001 Name\x3d96.545331 4 22 19865925 TXNRD2 C T 1 0.000199681 . . . . . . . . . unknown exonic . 1.29e-05 . . Name\x3dOREG1513432|N/A|EGR1|PAZAR . . . . . . Name\x3d97.531187 6 22 19867771 TXNRD2 C T 41 0.269169 0.1511 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1600 unknown exonic . 0.180043 . . Name\x3dOREG1944311|N/A|ZNF263|PAZAR,OREG1513433|N/A|EGR1|PAZAR . . . . . 0.1615 Name\x3d97.876249 3 22 19868218 TXNRD2 A G 162 0.718251 0.7309 2.110 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000666574|Promoter . . 0.7403 unknown exonic . 0.69829 T . Name\x3dOREG1513433|N/A|EGR1|PAZAR,OREG1944311|N/A|ZNF263|PAZAR . B T . . 0.7377 Name\x3d95.253025 3 22 19868228 TXNRD2 G A 1 0.0169728 0.0022 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000666574|Promoter . . 0.0043 unknown exonic . 0.006811 . . Name\x3dOREG1513433|N/A|EGR1|PAZAR,OREG1944311|N/A|ZNF263|PAZAR . . . . . 0.0044 Name\x3d97.119797 3 22 19868255 TXNRD2 AG A 42 0.156749 0.1479 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000666574|Promoter . . 0.1644 . intronic . 0.0045536 . . Name\x3dOREG1513433|N/A|EGR1|PAZAR,OREG1944311|N/A|ZNF263|PAZAR . . . . . 0.1610 . 2 22 19870831 TXNRD2 C T 68 0.221645 0.3011 . MedGen:CN169374 not_specified Benign . . . 0.3064 . intronic . 0.266141 . . Name\x3dOREG1513433|N/A|EGR1|PAZAR . . . . . 0.2962 . 2 22 19871018 TXNRD2 C T 1 0.000199681 . . . . . . . . 1.844e-05 . intronic . 1.29e-05 . . Name\x3dOREG1513433|N/A|EGR1|PAZAR . . . . . 0.0001 . 5 22 19882984 TXNRD2 T G 32 0.251198 0.1588 -1.829 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1653 nonsynonymous_SNV exonic . 0.185929 T . Name\x3dOREG1944307|N/A|ZNF263|PAZAR,OREG1513448|N/A|EGR1|PAZAR . B T . . 0.1662 . 4.5 22 19883123 TXNRD2 C T 1 0.000399361 0.0005 . MedGen:CN169374 not_specified Likely_benign . . . 0.0008 . intronic . 0.0006921 . . Name\x3dOREG1513448|N/A|EGR1|PAZAR,OREG1944307|N/A|ZNF263|PAZAR . . . . . 0.0004 . 3 22 19885548 TXNRD2 G T 32 0.242212 0.1585 . MedGen:CN169374 not_specified Benign . . . 0.2206 . intronic . 0.111493 . . Name\x3dOREG1513442|N/A|EGR1|PAZAR,OREG1944316|N/A|ZNF263|PAZAR . . . . . 0.1568 . 3 22 19898818 TXNRD2 C A 1 0.0483227 0.0194 . . . . . . . . . intronic . 0.0060543 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . . . 2 22 19898837 TXNRD2 A G 116 0.751198 0.5672 . . . . . . . . . intronic . 0.124701 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . 0.5632 . 1 22 19898886 TXNRD2 C T 18 0.171526 0.1066 . MedGen:CN169374 not_specified Benign . . . 0.0892 . intronic . 0.125839 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . 0.0903 . 1 22 19898887 TXNRD2 G A 1 0.048123 0.0193 . MedGen:CN169374 not_specified Benign . . . 0.0191 . intronic . 0.0331432 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . 0.0214 . 2 22 19899061 TXNRD2 G C 1 0.0483227 0.0191 . . . . . . . . . intronic . 0.0058731 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . . . 2 22 19902671 TXNRD2 C T 8 0.0585064 0.0422 . . . . . . . . . intronic . 0.0100063 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . 0.0525 . 2 22 19902896 TXNRD2 C T 76 0.507987 0.3788 . . . . . . . . . intronic . 0.0001153 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . . . 1 22 19905802 TXNRD2 G A 114 0.7498 0.5647 . . . . . . . . . intronic . 0.119746 . . Name\x3dOREG1944310|N/A|ZNF263|PAZAR,OREG1513443|N/A|EGR1|PAZAR . . . . . 0.5597 . 1 22 19906367 TXNRD2 G T 1 0.00259585 0.0001 . MedGen:CN169374 not_specified Benign . . . 0.0004 . intronic . 0.001119 . . Name\x3dOREG1513443|N/A|EGR1|PAZAR,OREG1944310|N/A|ZNF263|PAZAR . . . . . 0.0007 . 3 22 19906370 TXNRD2 G A 7 0.0297524 0.0232 . MedGen:CN169374 not_specified Benign . . . 0.0245 . intronic . 0.0298573 . . Name\x3dOREG1513443|N/A|EGR1|PAZAR,OREG1944310|N/A|ZNF263|PAZAR . . . . . 0.0297 . 1 22 19906511 TXNRD2 G A 30 0.168131 0.1440 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1502 synonymous_SNV exonic . 0.141783 . . Name\x3dOREG1944310|N/A|ZNF263|PAZAR,OREG1513443|N/A|EGR1|PAZAR . . . . . 0.1476 Name\x3d96.105989 3 22 19907099 TXNRD2 C A 76 0.483027 0.3760 6.178 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.4121 nonsynonymous_SNV exonic . 0.309356 T . Name\x3dOREG1513443|N/A|EGR1|PAZAR . D D . . 0.3312 Name\x3d95.222680 5 22 19907118 TXNRD2 G A 105 0.596845 0.5194 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.5443 synonymous_SNV exonic . 0.414833 . . Name\x3dOREG1944319|N/A|ZNF263|PAZAR,OREG1513443|N/A|EGR1|PAZAR . . . . . 0.4793 Name\x3d96.062314 2 22 19907192 TXNRD2 A G 113 0.754393 0.5652 . . . . . . . . . intronic . 0.106415 . . Name\x3dOREG1513443|N/A|EGR1|PAZAR,OREG1944319|N/A|ZNF263|PAZAR . . . . . 0.5575 . 1 22 19918723 TXNRD2 G A 10 0.0107827 0.0288 . . . . . . . . . intronic . 0.0041267 . . Name\x3dOREG1272801|N/A|SMARCA4|PAZAR,OREG1513434|N/A|EGR1|PAZAR . . . . . . . 1 2 39224112 SOS1 T C 1 0.000599042 0.0040 1.576 MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Rasopathy|not_specified Benign . . . 0.0031 nonsynonymous_SNV exonic . 0.0017852 T . . . B T . . 0.0028 Name\x3d99.676631 2.5 2 39224351 SOS1 G T 199 0.90016 0.9399 . MedGen:CN169374 not_specified Benign . . . 0.9336 . intronic . 0.0001035 . . . . . . . . 0.9369 . -2 2 39224614 SOS1 A G 2 0.00359425 0.0304 . MedGen:CN169374 not_specified Likely_benign . . . 0.0395 . intronic . 0.0034152 . . . . . . . . . Name\x3d95.538457 -1 2 39224615 SOS1 G GT 199 0.787939 0.9396 . MedGen:CN169374 not_specified Benign . . . 0.9317 . intronic . 0.0001035 . . . . . . . . 0.9326 Name\x3d95.538457 -1 2 39233500 SOS1 G A 199 0.905152 0.9387 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006 Noonan_syndrome Benign . . . . . intronic . 0.0003458 . . . . . . . . . Name\x3d97.945279 -1 2 39239386 SOS1 T G 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.715627 3 2 39240758 SOS1 C T 1 0.000399361 0.0005 . . . . . . . . . intronic . 0.0001035 . . . . . . . . . Name\x3d98.932330 1 2 39241107 SOS1 G A 4 0.00319489 0.0107 1.732 MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Rasopathy|not_specified|not_provided Benign . . . 0.0126 nonsynonymous_SNV exonic . 0.0079624 T . . . B T . . 0.0098 Name\x3d99.731899 0.5 2 39249896 SOS1 A G 1 0.000199681 . 2.765 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . P D . . . Name\x3d99.762476 6 2 39250386 SOS1 A G 1 0.00778754 0.0086 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign . . . 0.0101 . intronic . 0.0091396 . . . . . . . . 0.0077 Name\x3d97.552488 -1 2 39262348 SOS1 C G 1 0.00279553 0.0153 . Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified|not_provided Benign . . . 0.0170 . intronic . 0.0076519 . . . . . . 0.2881 0.442 0.0081 Name\x3d99.329274 -1 2 39278394 SOS1 A G 1 0.000199681 . 5.873 MedGen:CN517202 not_provided Uncertain_significance . . . 9.205e-05 nonsynonymous_SNV exonic . 6.47e-05 D . . . P D . . . Name\x3d99.712627 6 2 39278497 SOS1 A G 1 0.000399361 0.0006 . . . . . . . . . intronic . 9.7e-05 . . . . . . . . . Name\x3d99.176011 1 2 39281730 SOS1 G C 199 0.891374 0.9190 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign . . . 0.9118 . intronic . 0.882977 . . . . . . . . 0.9209 . -2 2 39281905 SOS1 G A 2 0.000998403 0.0034 . Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified|not_provided Benign . . . 0.0036 synonymous_SNV exonic . 0.0022703 . . . . . . . . 0.0045 Name\x3d99.645939 1 2 39283784 SOS1 G C 4 0.00658946 0.0189 . . . . . . . . . intronic . 0.0023674 . . . . . . . . . Name\x3d96.839047 -1 2 39285762 SOS1 G C 6 0.0515176 0.0116 . . . . . . . . . intronic . 0.0041849 . . Name\x3dOREG1247580|N/A|SMARCA4|PAZAR . . . . . 0.0131 Name\x3d95.281481 0 2 39347388 SOS1 GC G 12 0.0135783 0.0221 . MedGen:CN517202 not_provided Likely_benign Name\x3dENSR00000115638|Promoter . . . . intronic . 0.0028431 . . Name\x3dOREG1165803|N/A|TFAP2C|PAZAR,OREG1247587|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.690461 1 2 47389342 CALM2 A C 20 0.205072 0.0744 . . . . . . . . . intronic . 0.0157372 . . . . . . . . . . -2 2 47389467 CALM2 G A 2 0.000599042 0.0005 . MedGen:C4551647,OMIM:192500,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome_1|not_specified Benign/Likely_benign . . . 0.0016 synonymous_SNV exonic . 0.0008473 . . . . . . . . 0.0010 Name\x3d95.064076 1 2 47389842 CALM2 T C 2 0.00559105 0.0003 . . . . . . . 0.0002 . intronic . 0.0023932 . . . . . . . . 0.0003 . 0 2 105977761 FHL2 G A 40 0.111422 0.1926 . MedGen:CN169374 not_specified Benign . . Name\x3dMIMAT0004762|hsa-miR-486-3p|Experimental 0.1949 synonymous_SNV exonic . 0.157094 . . Name\x3dOREG1542996|N/A|ETS1|PAZAR . . . . . 0.1959 Name\x3d96.130399 3 2 105977776 FHL2 G A 25 0.0517173 0.1181 . MedGen:CN169374 not_specified Benign . . Name\x3dMIMAT0004762|hsa-miR-486-3p|Experimental 0.1187 synonymous_SNV exonic rs3087523|Body-mass-index||1E-8|PMID:30595370 0.0922368 . . Name\x3dOREG1542996|N/A|ETS1|PAZAR . . . . . 0.1270 Name\x3d95.218007 3 2 105977903 FHL2 G C 25 0.305511 0.1415 . MedGen:CN169374 not_specified Benign . . . 0.1299 . intronic . 0.200567 . . Name\x3dOREG1542996|N/A|ETS1|PAZAR . . . 0.0006 0.062 0.1364 . 1 2 105979730 FHL2 C A 81 0.277356 0.3797 . MedGen:CN169374 not_specified Benign . . . 0.3791 . intronic . 0.333443 . . . . . . . . 0.3766 . 1 2 105979752 FHL2 G A 2 0.00459265 0.0100 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Benign . . . 0.0071 synonymous_SNV exonic . 0.0062289 . . . . . . . . 0.0126 Name\x3d95.803674 1 2 105979986 FHL2 C T 3 0.00219649 0.0051 . . . . . . . . . intronic . 0.0050715 . . . . . . . . . . 6 2 179391754 TTN A G 1 0.000399361 0.0014 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0010 synonymous_SNV exonic . 0.0006727 . . . . . . . . 0.0011 Name\x3d97.150907 3 2 179392015 TTN T C 2 0.00599042 0.0016 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0018 synonymous_SNV exonic . 0.003661 . . . . . . . . 0.0018 Name\x3d98.415750 3 2 179392080 na A T 26 0.209065 0.1529 . MedGen:CN169374 not_specified Benign . . . 0.1492 . ncRNA_intronic . 0.163336 . . . . . . . . 0.1461 . -2 2 179392277 TTN A G 1 0.00219649 0.0006 1.541 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0019987 T . . . B D . . 0.0016 Name\x3d97.851703 3 2 179393111 TTN A G 15 0.0920527 0.0178 0.471 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 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 Benign/Likely_benign . . . 0.0217 nonsynonymous_SNV exonic . 0.0430007 T . . . B T . . 0.0207 Name\x3d97.461935 2.5 2 179393691 TTN G A 1 0.00379393 0.0157 3.210 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 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 Benign/Likely_benign . . . 0.0097 nonsynonymous_SNV exonic . 0.0086674 T . . . B T . . 0.0068 Name\x3d97.647082 2.5 2 179393840 TTN C T 2 0.00599042 0.0016 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0018 synonymous_SNV exonic . 0.0036481 . . . . . . . . 0.0020 Name\x3d97.549799 3 2 179393859 TTN A G 6 0.00459265 0.0176 2.010 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0206 nonsynonymous_SNV exonic . 0.0124449 T . . . B T . . 0.0178 Name\x3d96.596643 2.5 2 179395067 TTN C G 15 0.0509185 0.0873 . 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 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 Benign/Likely_benign . . . 0.0866 synonymous_SNV exonic . 0.0668685 . . . . . . . . 0.0874 Name\x3d97.345107 1 2 179395554 TTN G A 5 0.00519169 0.0154 2.704 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000629513|Promoter . . 0.0173 nonsynonymous_SNV exonic . 0.010679 T . . . B T . . 0.0143 Name\x3d98.631762 3.5 2 179395555 TTN C A 5 0.00519169 0.0154 2.275 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000629513|Promoter . . 0.0173 nonsynonymous_SNV exonic . 0.0106467 T . . . B T . . 0.0143 Name\x3d98.631762 3.5 2 179395560 TTN G A 15 0.0792732 0.0177 3.557 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 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 Benign/Likely_benign Name\x3dENSR00000629513|Promoter . . 0.0216 nonsynonymous_SNV exonic . 0.038376 T . . . B D . . 0.0208 Name\x3d98.631762 2 2 179395573 TTN C T 7 0.00658946 0.0186 4.028 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000629513|Promoter . . 0.0210 nonsynonymous_SNV exonic . 0.0137062 T . . . D D . . 0.0175 Name\x3d98.634310 5 2 179395760 TTN G A 15 0.091254 0.0180 . 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 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 Benign/Likely_benign Name\x3dENSR00000629513|Promoter . . 0.0216 synonymous_SNV exonic . 0.0424445 . . . . . . . . 0.0205 Name\x3d98.908030 2 2 179395874 TTN C T 1 0.00319489 0.0101 . 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 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 Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000629513|Promoter . . 0.0111 synonymous_SNV exonic . 0.0084346 . . . . . . . . 0.0119 Name\x3d98.856270 2 2 179395958 TTN T C 57 0.508187 0.2291 . 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 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 Benign/Likely_benign Name\x3dENSR00000629513|Promoter . . 0.2328 synonymous_SNV exonic . 0.333728 . . . . . . . . 0.2231 Name\x3d98.616577 2 2 179396162 TTN C G 9 0.0229633 0.0478 2.686 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 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 Benign/Likely_benign . . . 0.0411 nonsynonymous_SNV exonic . 0.0384989 T . . . B T . . 0.0436 Name\x3d98.243897 2.5 2 179396354 TTN G A 26 0.231829 0.1528 . 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 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 Benign/Likely_benign . . . 0.1473 synonymous_SNV exonic . 0.177579 . . . . . . . . 0.1451 Name\x3d98.070010 1 2 179396573 TTN T G 1 0.00379393 0.0156 . 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 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 Benign/Likely_benign . . . 0.0099 synonymous_SNV exonic . 0.0086998 . . . . . . . . 0.0068 Name\x3d98.012148 1 2 179396766 TTN C T 1 0.00359425 0.0222 3.918 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0169 nonsynonymous_SNV exonic . 0.012212 T . . . D D . . 0.0145 Name\x3d98.023696 4 2 179396782 TTN C G 2 0.00239617 0.0073 2.504 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0076 nonsynonymous_SNV exonic . 0.0051422 T . . . B D . . 0.0090 Name\x3d98.388015 3 2 179397561 TTN C T 26 0.208666 0.1525 4.497 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 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 Benign/Likely_benign . . . 0.1459 nonsynonymous_SNV exonic . 0.170761 T . . . D D . . 0.1442 Name\x3d98.925808 4 2 179398195 TTN C G 1 0.00219649 0.0021 2.784 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0028784 T . . . D D . . 0.0006 Name\x3d98.355946 6 2 179398509 TTN C A 15 0.0780751 0.0176 3.098 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 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 Benign/Likely_benign . . . 0.0214 nonsynonymous_SNV exonic rs3731752|Bone-mineral-density-(hip)||8E-6|PMID:30172743 0.0379491 T . . . D D . . 0.0198 Name\x3d97.951876 4 2 179398591 TTN T C 2 0.00119808 0.0019 0.513 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0012 nonsynonymous_SNV exonic . 0.0007633 T . . . B T . . 0.0012 Name\x3d97.843738 4.5 2 179398747 TTN T C 2 0.00599042 0.0016 1.457 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0036481 T . . . B T . . 0.0019 Name\x3d98.041026 4.5 2 179398823 TTN G A 26 0.232029 0.1531 . 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 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 Benign/Likely_benign . . . 0.1473 synonymous_SNV exonic . 0.17743 . . . . . . . . 0.1465 Name\x3d98.278344 1 2 179398989 TTN C T 1 0.000199681 . 3.802 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . D D . . . Name\x3d98.382088 8 2 179399071 TTN G A 2 0.000798722 0.0011 3.933 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0016 nonsynonymous_SNV exonic . 0.0010155 T . . . D D . . 0.0016 Name\x3d97.817307 6 2 179399451 TTN C T 2 0.00599042 0.0016 4.009 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0018 nonsynonymous_SNV exonic . 0.0037516 T . . . B D . . 0.0019 Name\x3d97.977310 3 2 179399537 TTN A C 1 0.000199681 6.481e-05 0.640 MedGen:CN517202 not_provided Uncertain_significance . . . 5.559e-05 nonsynonymous_SNV exonic . 2.59e-05 D . . . D D . . . Name\x3d97.654604 8 2 179399576 TTN C G 4 0.00459265 0.0107 1.720 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0098 nonsynonymous_SNV exonic . 0.0070568 T . . . D D . . 0.0104 Name\x3d97.536771 4 2 179399677 TTN C T 2 0.00119808 0.0054 2.339 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0058 nonsynonymous_SNV exonic . 0.0037322 T . . . B D . . 0.0065 Name\x3d97.935117 3 2 179399936 TTN G C 2 0.00599042 0.0016 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0017 synonymous_SNV exonic . 0.003661 . . . . . . . . 0.0020 Name\x3d97.352120 3 2 179400586 na A G 3 0.0233626 0.0266 . 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 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 Benign/Likely_benign . . . 0.2528 . ncRNA_intronic . 0.0001682 . . . . . . 0.0006 0.004 0.0050 . -2 2 179400895 TTN C T 13 0.0654952 0.0161 3.526 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 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 Benign/Likely_benign . . . 0.0183 nonsynonymous_SNV exonic . 0.0303554 T . . . P T . . 0.0174 Name\x3d97.346311 2.5 2 179401074 TTN A C 2 0.000798722 0.0005 2.164 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 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 Uncertain_significance . . . 0.0006 nonsynonymous_SNV exonic . 0.0003363 D . . . D D . . 0.0006 Name\x3d97.555167 6 2 179401311 na C CA 2 0.00359425 0.0090 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0064 . ncRNA_intronic . 0.0002781 . . . . . . . . 0.0072 . 0 2 179401740 TTN C T 3 0.0231629 0.0244 3.001 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 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 Benign/Likely_benign . . . 0.0272 nonsynonymous_SNV exonic . 0.0262739 T . . . D T . . 0.0207 Name\x3d97.115041 1 2 179401742 TTN C T 2 0.00479233 0.0195 4.269 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 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 Benign/Likely_benign . . . 0.0184 nonsynonymous_SNV exonic . 0.0129235 T . . . D D . . 0.0210 Name\x3d97.243624 4 2 179401777 TTN A T 2 0.00599042 0.0016 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0017 synonymous_SNV exonic . 0.0036481 . . . . . . . . 0.0018 Name\x3d97.510863 3 2 179402301 TTN A T 1 0.000199681 . . . . . . . . 1.845e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d98.381445 5 2 179402474 TTN G A 3 0.000599042 6.481e-05 4.461 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance . . . 5.533e-05 nonsynonymous_SNV exonic . 5.17e-05 T . . . D D . . . Name\x3d98.632990 10 2 179403425 TTN G A 1 0.000199681 . 3.515 . . . Name\x3dENSR00000629516|Enhancer . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P D . . . Name\x3d97.927466 6 2 179403593 na G A 26 0.185104 0.1530 . . . . . . . 0.1473 . ncRNA_exonic . 0.160522 . . . . . . . . 0.1444 . -2 2 179403750 TTN C T 10 0.076877 0.0290 4.332 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 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 Benign/Likely_benign . . . 0.0326 nonsynonymous_SNV exonic . 0.0646175 T . . . D D . . 0.0287 Name\x3d98.244583 4 2 179404197 TTN T C 3 0.00399361 0.0163 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0181 synonymous_SNV exonic . 0.012102 . . . . . . . . 0.0166 Name\x3d97.947865 1 2 179404293 TTN G A 2 0.00599042 0.0016 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0018 synonymous_SNV exonic . 0.0037192 . . . . . . . . 0.0020 Name\x3d98.229635 3 2 179404402 TTN T C 6 0.00399361 0.0056 1.106 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0067 nonsynonymous_SNV exonic . 0.0047412 T . Name\x3dOREG1300393|N/A|CEBPA|PAZAR . B T . . 0.0081 Name\x3d97.955154 13.5 2 179404461 TTN C T 1 0.000199681 . . . . . . . . 1.84e-05 synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1300393|N/A|CEBPA|PAZAR . . . . . . Name\x3d98.447063 6 2 179404498 TTN G C 1 0.000998403 0.0043 2.862 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0044 nonsynonymous_SNV exonic . 0.0027167 T . Name\x3dOREG1300393|N/A|CEBPA|PAZAR . D D . . 0.0041 Name\x3d98.221837 7 2 179404550 TTN G A 1 0.00139776 0.0104 3.839 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0054 nonsynonymous_SNV exonic . 0.0038615 T . Name\x3dOREG1300393|N/A|CEBPA|PAZAR . D D . . 0.0041 Name\x3d98.356611 5 2 179404628 TTN T A 13 0.0425319 0.0159 2.893 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 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 Benign/Likely_benign . . . 0.0178 nonsynonymous_SNV exonic . 0.0247927 T . Name\x3dOREG1300393|N/A|CEBPA|PAZAR . D T . . 0.0170 Name\x3d98.370116 2 2 179404786 na A T 26 0.232628 0.1532 . 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 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 Benign/Likely_benign . . . 0.1476 . ncRNA_intronic . 0.176259 . . . . . . . . 0.1464 Name\x3d96.277699 -1 2 179406003 na C A 56 0.504593 0.2274 . 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 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 Benign/Likely_benign . . . 0.2808 . ncRNA_intronic . 0.185942 . . . . . . . 0.06 0.2102 Name\x3d96.588161 -1 2 179406191 TTN C T 26 0.209265 0.1528 5.326 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 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 Benign/Likely_benign . . . 0.1476 nonsynonymous_SNV exonic . 0.170593 T . . . D D . . 0.1453 Name\x3d97.437378 4 2 179407663 TTN G A 2 0.00119808 0.0008 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign/Likely_benign . . . 0.0012 synonymous_SNV exonic . 0.0006662 . . . . . . . . 0.0012 Name\x3d98.824661 3 2 179408713 TTN A G 11 0.115815 0.0308 2.368 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 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 Benign/Likely_benign . . . 0.0344 nonsynonymous_SNV exonic . 0.0767002 T . . . B T . . 0.0322 Name\x3d97.837078 2.5 2 179410282 TTN A G 3 0.00559105 0.0143 2.442 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0158 nonsynonymous_SNV exonic . 0.0104979 T . . . P T . . 0.0159 Name\x3d98.023311 2.5 2 179410468 na A G 2 0.00599042 0.0016 . . . . . . . 0.0017 . ncRNA_intronic . 0.0035446 . . . . . . . . 0.0020 . 0 2 179410666 TTN G A 2 0.00599042 0.0016 2.870 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.003661 T . . . D D . . 0.0019 Name\x3d97.604288 6 2 179410704 TTN G A 1 0.00219649 0.0104 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0118 synonymous_SNV exonic . 0.0077554 . . . . . . . . 0.0108 Name\x3d98.115024 1 2 179410815 TTN G A 2 0.00599042 0.0016 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0017 synonymous_SNV exonic . 0.0035575 . . . . . . . . 0.0019 Name\x3d98.040376 3 2 179411011 TTN T C 3 0.0223642 0.0238 1.667 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 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 Benign/Likely_benign . . . 0.0258 nonsynonymous_SNV exonic . 0.0243658 T . . . D T . . 0.0205 Name\x3d98.009037 1 2 179411207 TTN A T 1 0.00179712 0.0032 2.403 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0038 nonsynonymous_SNV exonic . 0.0029236 T . . . D T . . 0.0035 Name\x3d98.551689 3 2 179411212 TTN G A 1 0.000399361 0.0014 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0015 synonymous_SNV exonic . 0.0011319 . . . . . . . . 0.0015 Name\x3d98.603683 3 2 179411665 na A G 41 0.327476 0.1720 . . . . . . . 0.1702 . ncRNA_intronic rs2288327|Atrial-fibrillation|1.1|7E-25|PMID:30061737 0.217481 . . . . . . . . 0.1683 . -2 2 179412966 TTN G A 3 0.00898562 0.0315 . 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 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 Benign/Likely_benign . . . 0.0322 synonymous_SNV exonic . 0.0213839 . . . . . . . . 0.0284 Name\x3d98.418712 1 2 179413110 TTN G A 26 0.234225 0.1529 . 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 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 Benign/Likely_benign . . . 0.1474 synonymous_SNV exonic . 0.174946 . . . . . . . . 0.1460 Name\x3d98.849898 1 2 179413452 TTN G A 7 0.0121805 0.0242 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0280 synonymous_SNV exonic . 0.0200321 . . . . . . . . 0.0315 Name\x3d98.693281 1 2 179413657 TTN A G 1 0.000199681 0.0004 2.176 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0003 nonsynonymous_SNV exonic . 0.0002393 T . . . B D . . 0.0004 Name\x3d98.663835 5 2 179414177 TTN G A 1 0.00199681 0.0036 2.180 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0031 nonsynonymous_SNV exonic . 0.0024838 D . . . D D . . 0.0023 Name\x3d97.875263 6 2 179414318 TTN C T 10 0.15016 0.0302 2.929 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 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 Benign/Likely_benign . . . 0.0338 nonsynonymous_SNV exonic . 0.0856975 T . . . D D . . 0.0308 Name\x3d97.748916 4 2 179414633 na C A 41 0.323482 0.1721 . . . . . . . 0.1686 . ncRNA_intronic . 0.213367 . . . . . . . . 0.1680 . -2 2 179414705 na A T 3 0.0223642 0.0238 . 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 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 Benign/Likely_benign . . . 0.0267 . ncRNA_intronic . 0.0248574 . . . . . . . 0.114 0.0196 Name\x3d95.211971 -1 2 179414800 TTN C T 2 0.00599042 0.0016 3.867 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0036675 T . . . D D . . 0.0019 Name\x3d98.128310 6 2 179415013 na G A 2 0.00599042 0.0016 . MedGen:CN169374 not_specified Benign . . . 0.0018 . ncRNA_intronic . 0.0036351 . . . . . . . . 0.0015 . 0 2 179415833 TTN G A 1 0.000199681 0.0001 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0003 synonymous_SNV exonic . 0.0001682 . . . . . . . . . Name\x3d98.056252 5 2 179415942 TTN A C 1 0.000199681 . 3.814 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P D . . . Name\x3d98.531104 5 2 179416556 TTN A C 11 0.152356 0.0319 . 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 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 Benign/Likely_benign . . . 0.0353 synonymous_SNV exonic . 0.0863702 . . . . . . . . 0.0328 Name\x3d98.389048 1 2 179416801 TTN A C 2 0.00599042 0.0016 1.496 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0018 nonsynonymous_SNV exonic . 0.0035705 T . . . D D . . 0.0019 Name\x3d97.689141 6 2 179417091 TTN C T 2 0.0061901 0.0019 3.757 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0018 nonsynonymous_SNV exonic . 0.0036481 T . . . D D . . 0.0020 Name\x3d97.651739 6 2 179417415 TTN C T 1 0.000199681 . 1.435 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d98.316310 6.5 2 179417633 TTN C T 2 0.00599042 0.0016 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0018 synonymous_SNV exonic . 0.0037063 . . . . . . . . 0.0019 Name\x3d98.539530 3 2 179418144 na C T 1 0.000199681 6.488e-05 . . . . . . . 0.0002 . ncRNA_intronic . 7.12e-05 . . . . . . . . 0.0001 . 2 2 179418306 TTN C T 1 0.000199681 0.0009 3.208 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0009 nonsynonymous_SNV exonic . 0.0005304 T . . . B T . . 0.0010 Name\x3d98.550306 4.5 2 179419342 TTN G A 1 0.000199681 . 4.209 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 6.5e-06 T . . . D D . . . Name\x3d97.504981 8 2 179419792 TTN G A 3 0.00179712 0.0076 3.106 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0037 nonsynonymous_SNV exonic . 0.0028201 T . . . D T . . 0.0045 Name\x3d97.072213 7 2 179421609 TTN C T 10 0.0842652 0.0291 . 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 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 Benign/Likely_benign . . . 0.0328 synonymous_SNV exonic . 0.066364 . . . . . . . . 0.0291 Name\x3d96.675892 1 2 179421694 TTN A G 56 0.507188 0.2273 -0.530 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 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 Benign/Likely_benign . . . 0.2312 nonsynonymous_SNV exonic . 0.33788 T . . . B T . . 0.2206 Name\x3d96.436715 2.5 2 179422073 TTN G A 1 0.000199681 . 2.379 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D D . . . Name\x3d96.873272 8 2 179422181 TTN C T 1 0.00259585 0.0040 2.139 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0025 nonsynonymous_SNV exonic . 0.0030401 T . . . B T . . 0.0010 Name\x3d97.464763 4.5 2 179422286 na C A 1 0.000798722 0.0024 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0028 . ncRNA_intronic . 0.001837 . . . . . . 0.0001 0.044 0.0025 Name\x3d95.739189 1 2 179422669 TTN G T 2 0.00219649 0.0007 1.974 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0009 nonsynonymous_SNV exonic . 0.0010026 D . . . D D . . 0.0001 Name\x3d97.344853 6 2 179422834 TTN C A 1 0.000199681 . 1.943 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B D . . . Name\x3d97.338187 5 2 179423099 TTN A G 3 0.0223642 0.0238 . 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 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 Benign/Likely_benign . . . 0.0264 synonymous_SNV exonic . 0.0252713 . . . . . . . . 0.0208 Name\x3d98.386890 1 2 179423168 TTN T C 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d98.558322 5 2 179424048 TTN T C 9 0.0161741 0.0341 . 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 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 Benign/Likely_benign . . . 0.0312 synonymous_SNV exonic . 0.0231562 . . . . . . . . 0.0324 Name\x3d98.373604 1 2 179424558 TTN C T 1 0.00279553 0.0103 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0112 synonymous_SNV exonic . 0.0086351 . . . . . . . . 0.0118 Name\x3d98.078554 1 2 179424734 TTN C T 1 0.000199681 . 4.062 . . . . . . 1.844e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d98.252257 8 2 179424834 TTN C T 1 0.000199681 0.0001 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0001 synonymous_SNV exonic . 9.06e-05 . . . . . . . . 0.0001 Name\x3d97.728468 5 2 179425470 TTN G A 1 0.000199681 . . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 3.697e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d97.156711 5 2 179425988 TTN G A 2 0.000399361 0.0011 3.592 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0008667 T . . . D D . . 0.0007 Name\x3d97.935487 6 2 179426219 TTN T C 1 0.000399361 0.0004 0.707 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_provided Uncertain_significance . . . 0.0004 nonsynonymous_SNV exonic . 0.0003299 T . . . B T . . 0.0002 Name\x3d98.338412 6.5 2 179426596 TTN C T 2 0.000599042 0.0007 2.154 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0009 nonsynonymous_SNV exonic . 0.0006339 T . . . B T . . 0.0009 Name\x3d98.466657 4.5 2 179426682 TTN T C 1 0.000199681 . . . . . . . . 1.856e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d98.480377 5 2 179427186 TTN A G 57 0.508786 0.2291 . 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 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 Benign/Likely_benign . . . 0.2325 synonymous_SNV exonic . 0.337078 . . . . . . . . 0.2228 Name\x3d97.378453 1 2 179427536 TTN T C 57 0.508387 0.2291 0.936 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 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 Benign/Likely_benign . . . 0.2347 nonsynonymous_SNV exonic . 0.337777 T . . . B T . . 0.2229 Name\x3d96.753193 2.5 2 179428119 TTN C T 4 0.00778754 0.0098 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0077 synonymous_SNV exonic . 0.0081629 . . . . . . . . 0.0073 Name\x3d96.961404 7 2 179428299 TTN G T 2 0.00579073 0.0016 1.633 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.003564 T . . . D D . . 0.0018 Name\x3d98.365337 6 2 179429004 TTN G A 3 0.0221645 0.0238 . 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 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 Benign/Likely_benign . . . 0.0256 synonymous_SNV exonic . 0.0243399 . . . . . . . . 0.0206 Name\x3d96.521228 1 2 179429301 TTN A G 1 0.00299521 0.0047 . 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 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 Benign/Likely_benign . . . 0.0056 synonymous_SNV exonic . 0.005194 . . . . . . . . 0.0065 Name\x3d96.694037 3 2 179429612 TTN A G 2 0.000599042 0.0005 1.929 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0005 nonsynonymous_SNV exonic . 0.0002911 T . . . P D . . 0.0007 Name\x3d97.112428 3 2 179430060 TTN G T 3 0.0221645 0.0238 . 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 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 Benign/Likely_benign . . . 0.0257 synonymous_SNV exonic . 0.0251484 . . . . . . . . 0.0206 Name\x3d96.002088 1 2 179430105 TTN C T 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d96.614760 5 2 179430137 TTN T G 1 0.000399361 0.0002 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign/Likely_benign . . . 0.0002 synonymous_SNV exonic . 0.0001294 . . . . . . . . . Name\x3d95.233752 5 2 179430997 TTN G A 41 0.342252 0.1717 2.294 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 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 Benign/Likely_benign . . . 0.1697 nonsynonymous_SNV exonic . 0.223128 T . . . P T . . 0.1669 Name\x3d97.147702 2.5 2 179431076 TTN C G 8 0.00738818 0.0248 2.573 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0181 nonsynonymous_SNV exonic . 0.0144112 D . . . D D . . 0.0200 Name\x3d97.079100 4 2 179431594 TTN A G 3 0.0223642 0.0238 1.803 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 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 Benign/Likely_benign . . . 0.0258 nonsynonymous_SNV exonic . 0.0250967 T . . . D D . . 0.0207 Name\x3d96.772015 4 2 179431797 TTN A T 15 0.0926518 0.0187 . 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 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 Benign/Likely_benign . . . 0.0223 synonymous_SNV exonic . 0.0441391 . . . . . . . . 0.0208 Name\x3d97.244511 1 2 179432004 TTN A G 2 0.00119808 0.0001 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0004 synonymous_SNV exonic . 0.0003428 . . . . . . . . 0.0009 Name\x3d98.118295 3 2 179432185 TTN A G 52 0.129992 0.3247 3.368 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 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 Benign/Likely_benign . . . 0.3015 nonsynonymous_SNV exonic . 0.23653 T . . . P T . . 0.3030 Name\x3d97.904737 2.5 2 179433221 TTN T C 3 0.0223642 0.0238 0.167 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 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 Benign/Likely_benign . . . 0.0258 nonsynonymous_SNV exonic . 0.0250902 T . . . B T . . 0.0209 Name\x3d97.078343 2.5 2 179433580 TTN T C 3 0.0223642 0.0238 0.998 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 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 Benign/Likely_benign . . . 0.0257 nonsynonymous_SNV exonic . 0.0253166 T . . . B T . . 0.0206 Name\x3d97.401979 2.5 2 179433654 TTN C T 2 0.000399361 0.0005 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0009 synonymous_SNV exonic . 0.0008603 . . . . . . . . 0.0011 Name\x3d96.965696 3 2 179434139 TTN A G 3 0.0223642 0.0238 1.818 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 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 Benign/Likely_benign . . . 0.0258 nonsynonymous_SNV exonic . 0.0251355 T . . . D T . . 0.0207 Name\x3d96.628499 1 2 179434303 TTN A G 1 0.000199681 . 2.873 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_provided Uncertain_significance . . . 3.826e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . B T . . 0.0001 Name\x3d98.321363 6.5 2 179434516 TTN C T 15 0.0792732 0.0183 2.413 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 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 Benign/Likely_benign . . . 0.0223 nonsynonymous_SNV exonic . 0.0397602 T . . . P T . . 0.0202 Name\x3d98.098843 2.5 2 179435337 TTN T G 11 0.143171 0.0316 . 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 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 Benign/Likely_benign . . . 0.0353 synonymous_SNV exonic . 0.0841645 . . . . . . . . 0.0327 Name\x3d96.850534 1 2 179435418 TTN T C 1 0.00599042 0.0060 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0051 synonymous_SNV exonic . 0.0060737 . . . . . . . . 0.0059 Name\x3d98.050815 3 2 179436020 TTN G A 26 0.208067 0.1512 3.394 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 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 Benign/Likely_benign . . . 0.1452 nonsynonymous_SNV exonic . 0.169823 T . . . D D . . 0.1442 Name\x3d98.349158 4 2 179436257 TTN T C 1 0.000399361 0.0004 0.906 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|MedGen:CN517202 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|not_provided Uncertain_significance . . . 0.0004 nonsynonymous_SNV exonic . 0.0003234 T . . . B T . . 0.0002 Name\x3d98.506059 6.5 2 179436303 TTN G C 1 0.000199681 . . . . . . . . 9.268e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d98.753032 5 2 179437034 TTN C G 1 0.00159744 0.0060 2.191 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0036 nonsynonymous_SNV exonic . 0.003053 T . . . P T . . 0.0024 Name\x3d98.728459 4.5 2 179438235 TTN T C 2 0.00599042 0.0016 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0017 synonymous_SNV exonic . 0.0027943 . . . . . . . . 0.0019 Name\x3d98.052107 3 2 179438866 TTN C T 9 0.0978435 0.0292 4.024 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 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 Benign/Likely_benign . . . 0.0328 nonsynonymous_SNV exonic . 0.0704842 T . . . D D . . 0.0292 Name\x3d98.246934 4 2 179439511 TTN C T 1 0.000199681 6.486e-05 4.171 MedGen:CN517202 not_provided Uncertain_significance . . . . nonsynonymous_SNV exonic . 7.12e-05 T . . . D D . . . Name\x3d98.890331 8 2 179440029 TTN G A 50 0.146565 0.3221 . 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 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 Benign/Likely_benign . . . 0.2981 synonymous_SNV exonic . 0.237216 . . . . . . . . 0.2975 Name\x3d98.031764 1 2 179440182 TTN A G 1 0.000599042 0.0071 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0045 synonymous_SNV exonic . 0.0029042 . . . . . . . . 0.0051 Name\x3d97.883991 3 2 179441119 TTN G A 1 0.00778754 6.483e-05 2.369 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 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 Benign/Likely_benign . . . 3.815e-05 nonsynonymous_SNV exonic . 0.002238 T . . . B T . . 0.0001 Name\x3d97.104464 4.5 2 179441295 TTN T C 1 0.00299521 0.0073 1.439 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0095 nonsynonymous_SNV exonic . 0.0073091 D . . . D D . . 0.0092 Name\x3d97.654685 6 2 179441738 TTN A G 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d98.766990 5 2 179441932 TTN G A 1 0.000998403 0.0051 2.114 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0046 nonsynonymous_SNV exonic . 0.0034023 D . . . P D . . 0.0052 Name\x3d98.158697 6 2 179442292 na TA T 26 0.0678914 0.1117 . . . . . . . 0.1652 . ncRNA_intronic . 0.002335 . . . . . . . . 0.1192 . -2 2 179442784 TTN C G 1 0.000798722 0.0021 2.997 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0027 nonsynonymous_SNV exonic . 0.0019211 D . . . D D . . 0.0031 Name\x3d98.280985 6 2 179443540 TTN A G 11 0.135982 0.0317 . 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 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 Benign/Likely_benign . . . 0.0353 synonymous_SNV exonic . 0.0825474 . . . . . . . . 0.0327 Name\x3d98.237475 1 2 179444137 na A G 42 0.347444 0.1730 . MedGen:CN169374 not_specified Benign . . . 0.1733 . ncRNA_intronic . 0.226271 . . . . . . . . 0.1688 . -2 2 179444166 na G A 1 0.000399361 . . . . . . . . 7.811e-05 . ncRNA_intronic . 8.41e-05 . . . . . . . . . . 2 2 179444289 TTN A G 5 0.0283546 0.0256 . 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 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 Benign/Likely_benign . . . 0.0276 synonymous_SNV exonic . 0.0290553 . . . . . . 0.0001 0.016 0.0225 Name\x3d97.948089 1 2 179444626 na A C 3 0.0223642 0.0240 . . . . . . . 0.0258 . ncRNA_intronic . 0.0250191 . . . . . . . . 0.0207 . -2 2 179444768 TTN C G 214 0.994609 0.9999 -0.011 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 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 Benign/Likely_benign . . . 0.9997 nonsynonymous_SNV exonic . 0.947562 T . . . B T . . 0.9999 Name\x3d98.226625 2.5 2 179444939 TTN C T 48 0.351238 0.1781 1.514 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 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 Benign/Likely_benign . . . 0.1782 nonsynonymous_SNV exonic . 0.233192 T . . . B T . . 0.1769 Name\x3d97.290230 2.5 2 179446381 TTN C T 8 0.00579073 0.0177 3.234 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0229 nonsynonymous_SNV exonic . 0.015168 T . . . B T . . 0.0219 Name\x3d97.423139 2.5 2 179447848 TTN T C 58 0.513778 0.2299 . 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 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 Benign/Likely_benign . . . 0.2388 synonymous_SNV exonic . 0.339782 . . . . . . . . 0.2244 Name\x3d96.583328 1 2 179448315 na A C 5 0.0391374 0.0257 . MedGen:CN169374 not_specified Benign . . . 0.0401 . ncRNA_exonic . 0.0308664 . . . . . . . . 0.0227 . -2 2 179448967 na A AAAC 5 0.0920527 0.0247 . . . . . . . 0.0271 . ncRNA_intronic . 0.002031 . . . . . . . . 0.0237 . -2 2 179449131 TTN G A 7 0.0107827 0.0350 3.355 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 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 Benign/Likely_benign . . . 0.0377 nonsynonymous_SNV exonic . 0.0270889 T . . . P D . . 0.0426 Name\x3d98.438228 1 2 179449186 TTN G A 2 0.0129792 0.0016 4.103 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 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 Benign/Likely_benign . . . 0.0036 nonsynonymous_SNV exonic . 0.0079624 T . . . D T . . 0.0028 Name\x3d98.684260 1 2 179449579 TTN C T 2 0.00599042 0.0016 2.898 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.003661 D . . . D D . . 0.0019 Name\x3d98.610841 6 2 179451420 TTN G A 56 0.507588 0.2261 3.015 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 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 Benign/Likely_benign . . . 0.2315 nonsynonymous_SNV exonic . 0.336522 T . . . B T . . 0.2197 Name\x3d97.427326 2.5 2 179451906 TTN G A 2 0.0131789 0.0058 . 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 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 Benign/Likely_benign . . . 0.0063 synonymous_SNV exonic . 0.0091525 . . . . . . . . 0.0053 Name\x3d97.456756 1 2 179453429 TTN G A 4 0.00579073 0.0124 -0.383 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0140 nonsynonymous_SNV exonic . 0.0097153 T . . . B T . . 0.0163 Name\x3d98.010315 2.5 2 179454394 TTN A G 57 0.51238 0.2297 . 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 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 Benign/Likely_benign . . . 0.2340 synonymous_SNV exonic . 0.335668 . . . . . . . . 0.2249 Name\x3d98.402423 1 2 179454530 TTN C T 1 0.000998403 0.0040 3.623 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0043 nonsynonymous_SNV exonic . 0.0025614 T . . . D D . . 0.0043 Name\x3d98.527623 6 2 179455207 TTN T C 57 0.51238 0.2297 . 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 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 Benign/Likely_benign . . . 0.2345 synonymous_SNV exonic . 0.339491 . . . . . . . . 0.2242 Name\x3d97.804101 1 2 179455352 TTN C T 1 0.00119808 0.0044 3.890 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0066 nonsynonymous_SNV exonic . 0.0037839 T . . . D D . . 0.0043 Name\x3d97.286035 6 2 179455595 TTN T C 1 0.000199681 . 0.486 . . . . . . 1.845e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d98.384777 6.5 2 179456310 na C G 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 6.5e-06 . . . . . . . . . . 2 2 179457147 TTN G A 27 0.213059 0.1522 2.159 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 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 Benign/Likely_benign . . . 0.1466 nonsynonymous_SNV exonic . 0.168329 T . . . B T . . 0.1473 Name\x3d98.571913 2.5 2 179457446 na A G 20 0.10004 0.0251 . . . . . . . . . ncRNA_intronic . 0.0093207 . . . . . . . . . . -2 2 179457457 na G T 1 0.000199681 . . . . . . . . 1.846e-05 . ncRNA_intronic . 1.29e-05 . . . . . . . . . . 2 2 179457928 TTN G T 1 0.000199681 . . . . . . . . 1.843e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d97.299100 5 2 179458591 TTN C T 27 0.21246 0.1521 4.706 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 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 Benign/Likely_benign . . . 0.1469 nonsynonymous_SNV exonic . 0.17005 T . . . D D . . 0.1473 Name\x3d97.179832 4 2 179460433 TTN G A 2 0.00599042 0.0016 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0024 synonymous_SNV exonic . 0.0035963 . . . . . . . . 0.0018 Name\x3d97.061917 3 2 179460557 na A T 5 0.0285543 0.0254 . . . . . . . 0.0383 . ncRNA_intronic . 0.0235702 . . . . . . . . 0.0208 . -2 2 179462494 TTN A G 50 0.126997 0.3239 . 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 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 Benign/Likely_benign . . . 0.3004 synonymous_SNV exonic . 0.234699 . . . . . . . . 0.3001 Name\x3d96.777310 1 2 179462580 na T C 1 0.000199681 6.484e-05 . . . . . . . 1.847e-05 . ncRNA_intronic . 1.29e-05 . . . . . . . . . . 2 2 179462796 na A G 1 0.000199681 6.48e-05 . MedGen:CN169374 not_specified Likely_benign . . . 1.844e-05 . ncRNA_intronic . 6.5e-06 . . . . . . 0.0012 0.106 . . 2 2 179463422 na A G 1 0.00219649 0.0080 . . . . . . . 0.0096 . ncRNA_intronic . 0.005912 . . . . . . . . 0.0103 . -2 2 179463446 na T TA 9 0.0265575 0.0296 . . . . . . . 0.0324 . ncRNA_intronic . 0.0010479 . . . . . . . . 0.0295 . -2 2 179463823 na T A 5 0.00658946 0.0066 . . . . . . . 0.0079 . ncRNA_intronic . 0.0012225 . . . . . . . . 0.0065 . 8 2 179463991 TTN C T 1 0.00359425 0.0106 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0123 synonymous_SNV exonic . 0.0086933 . . . . . . . . 0.0110 Name\x3d98.229485 1 2 179464245 na A G 5 0.0285543 0.0255 . . . . . . . 0.0280 . ncRNA_intronic . 0.0270566 . . . . . . . . 0.0225 . -2 2 179464527 TTN T C 57 0.51278 0.2300 2.157 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 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 Benign/Likely_benign . . . 0.2354 nonsynonymous_SNV exonic . 0.340966 T . . . B T . . 0.2261 Name\x3d98.386272 2.5 2 179464637 na A T 1 0.00219649 0.0021 . . . . . . . . . ncRNA_intronic . 0.0002652 . . . . . . . . . . 0 2 179465706 TTN A T 1 0.000199681 0.0004 1.091 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0007 nonsynonymous_SNV exonic . 0.0004592 T . . . P D . . 0.0007 Name\x3d98.204063 3 2 179466859 TTN A G 1 0.000599042 0.0001 2.502 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Uncertain_significance . . . 9.266e-05 nonsynonymous_SNV exonic . 6.47e-05 T . . . P D . . . Name\x3d98.970412 3 2 179467070 TTN A G 1 0.000199681 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign . . . 7.385e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d98.808645 5 2 179467226 TTN G C 3 0.00159744 0.0005 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0016 synonymous_SNV exonic . 0.0007891 . . . . . . . . 0.0007 Name\x3d98.876456 7 2 179468704 TTN A G 2 0.000798722 0.0014 1.896 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0008 nonsynonymous_SNV exonic . 0.0005563 T . . . B T . . 0.0008 Name\x3d98.668818 4.5 2 179469386 na A G 12 0.119209 0.0365 . . . . . . . 0.0420 . ncRNA_intronic . 0.0654519 . . . . . . . . 0.0358 . -2 2 179470047 na C A 7 0.0832668 0.0117 . . . . . . . 0.0151 . ncRNA_exonic . 0.0332143 . . . . . . . . 0.0133 . -2 2 179472223 TTN A G 3 0.00459265 0.0147 2.046 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 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 Benign/Likely_benign . . . 0.0171 nonsynonymous_SNV exonic . 0.0122832 D . . . D D . . 0.0143 Name\x3d98.157111 4 2 179472292 TTN T A 3 0.0295527 0.0232 1.552 . . . . . . 0.0261 nonsynonymous_SNV exonic . 0.0269919 T . . . B T . . 0.0204 Name\x3d97.739847 2.5 2 179472319 TTN C T 1 0.00119808 0.0018 3.630 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0026 nonsynonymous_SNV exonic . 0.0019275 T . . . D D . . 0.0030 Name\x3d97.771092 6 2 179472693 TTN A G 3 0.0305511 0.0231 . 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 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 Benign/Likely_benign . . . 0.0263 synonymous_SNV exonic . 0.0282079 . . . . . . . . 0.0205 Name\x3d98.031019 1 2 179472825 na T C 14 0.0107827 0.0208 . MedGen:CN169374 not_specified Benign . . . 0.0246 . ncRNA_intronic . 0.0158148 . . . . . . . . 0.0226 . -2 2 179473238 na C A 1 0.000199681 0.0002 . . . . . . . 0.0004 . ncRNA_intronic . 0.0002652 . . . . . . . . . . 2 2 179473705 na G A 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 2 2 179474075 TTN C T 1 0.000199681 . 3.675 . . . . . . 1.856e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . D D . . . Name\x3d97.878535 8 2 179474466 TTN C T 3 0.0299521 0.0232 . 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 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 Benign/Likely_benign . . . 0.0263 synonymous_SNV exonic . 0.0266361 . . . . . . . . 0.0204 Name\x3d98.156662 1 2 179474668 TTN G A 7 0.0726837 0.0114 3.431 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 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 Benign/Likely_benign . . . 0.0142 nonsynonymous_SNV exonic . 0.0323605 T . . . D D . . 0.0131 Name\x3d98.569477 4 2 179474787 na T C 2 0.00599042 0.0016 . . . . . . . 0.0018 . ncRNA_intronic . 0.0036804 . . . . . . . . 0.0019 . 0 2 179477267 TTN T G 3 0.00638978 0.0202 1.693 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 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 Benign/Likely_benign . . . 0.0232 nonsynonymous_SNV exonic . 0.015472 T . . . P T . . 0.0198 Name\x3d98.093837 2.5 2 179477332 na ATT AT 55 . . . . . . . . . . . ncRNA_intronic . . . . . . . . . . . . 12 2 179477435 na C T 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 2 2 179477476 na T G 5 0.0361422 0.0251 . . . . . . . 0.0318 . ncRNA_intronic . 0.031041 . . . . . . . . 0.0219 . -2 2 179477529 TTN C G 2 0.00599042 0.0016 2.501 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0019 nonsynonymous_SNV exonic . 0.0037192 T . . . D T . . 0.0019 Name\x3d98.127878 3 2 179477717 TTN A G 7 0.0736821 0.0114 . 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 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 Benign/Likely_benign . . . 0.0142 synonymous_SNV exonic . 0.0325352 . . . . . . . . 0.0130 Name\x3d97.645943 1 2 179477802 na G A 1 0.000599042 . . . . . . . . 5.547e-05 . ncRNA_intronic . 3.88e-05 . . . . . . 0.0267 0.274 . Name\x3d96.501613 1 2 179478639 TTN T A 2 0.00599042 0.0016 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0018 synonymous_SNV exonic . 0.0036869 . . . . . . . . 0.0019 Name\x3d98.081437 3 2 179478829 TTN C T 1 0.000199681 . 3.307 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d98.888834 8 2 179479118 na A AT 5 0.0365415 0.0251 . . . . . . . 0.0277 . ncRNA_exonic . 0.0009444 . . . . . . . . 0.0227 . -2 2 179479245 TTN C T 7 0.072484 0.0113 . 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 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 Benign/Likely_benign . . . 0.0142 synonymous_SNV exonic . 0.0318883 . . . . . . . . 0.0127 Name\x3d98.166193 1 2 179479741 na G A 4 0.0938498 0.0227 . . . . . . . 0.0314 . ncRNA_intronic . 0.0536604 . . . . . . . . 0.0209 . -2 2 179482089 TTN C T 1 0.00299521 0.0067 4.000 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0157 nonsynonymous_SNV exonic . 0.0064359 T . . . D D . . 0.0088 Name\x3d98.383064 4 2 179482280 na G A 1 0.000199681 . . . . . . . . 4.665e-05 . ncRNA_intronic . 1.29e-05 . . . . . . . . . . 2 2 179482309 na CAATT C 7 0.081869 0.0116 . . . . . . . . . ncRNA_intronic . 0.0056862 . . . . . . . . . . -2 2 179482533 TTN G T 2 0.00599042 0.0016 1.986 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0018 nonsynonymous_SNV exonic . 0.0036804 T . . . B T . . 0.0019 Name\x3d97.907411 4.5 2 179482852 na G A 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 1.29e-05 . . . . . . . . . . 2 2 179482937 TTN C T 1 0.000599042 0.0026 2.837 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0025 nonsynonymous_SNV exonic . 0.0018046 T . . . D T . . 0.0023 Name\x3d98.210362 3 2 179482994 TTN G A 4 0.00139776 0.0038 2.977 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0034 nonsynonymous_SNV exonic . 0.0024644 D . . . D D . . 0.0029 Name\x3d97.859568 10 2 179483040 TTN C T 1 0.000199681 . . . . . . . . 1.843e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d98.198089 5 2 179484892 na T A 5 0.0363419 0.0249 . . . . . . . . . ncRNA_exonic . 0.0053428 . . . . . . . . . . -2 2 179485521 TTN A T 1 0.000199681 . -1.228 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d97.639538 6.5 2 179485599 TTN A G 5 0.0363419 0.0250 . 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 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 Benign/Likely_benign . . . 0.0278 synonymous_SNV exonic . 0.0312739 . . . . . . . . 0.0224 Name\x3d98.705858 1 2 179485707 TTN G A 1 0.000199681 . . . . . . . . 3.701e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d98.669136 5 2 179486037 TTN C A 1 0.00219649 0.0070 3.020 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0068 nonsynonymous_SNV exonic . 0.0048253 T . . . D D . . 0.0086 Name\x3d98.183556 6 2 179486376 TTN C T 2 0.00339457 0.0016 4.195 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0018 nonsynonymous_SNV exonic . 0.0027943 T . . . D D . . 0.0019 Name\x3d97.755334 6 2 179486478 MIR548N T C 1 0.00219649 0.0106 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0124 . ncRNA_intronic . 0.0078136 . . . . . . 0.5138 0.574 0.0109 . -2 2 179487314 MIR548N C CT 5 0.0391374 0.0251 . . . . . . . . . ncRNA_intronic . 0.0003074 . . . . . . . . . . -2 2 179495795 TTN C T 1 0.000199681 . . . . . . . . 1.845e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d98.821571 5 2 179497025 TTN A G 2 0.0395367 0.0039 . 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 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 Benign/Likely_benign . . . 0.0066 synonymous_SNV exonic . 0.0166169 . . . . . . . . 0.0036 Name\x3d97.940713 1 2 179497133 TTN C T 3 0.00698882 0.0427 . 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 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 Benign/Likely_benign . . . 0.0345 synonymous_SNV exonic . 0.0189713 . . . . . . . . 0.0290 Name\x3d98.156356 1 2 179498022 TTN G A 1 0.00119808 6.487e-05 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0002 synonymous_SNV exonic . 0.0008473 . . . . . . . . 0.0001 Name\x3d98.742230 3 2 179498042 TTN T C 25 0.0509185 0.1113 2.465 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 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 Benign/Likely_benign . . . 0.1042 nonsynonymous_SNV exonic . 0.082748 T . . . D T . . 0.1098 Name\x3d98.774815 1 2 179498303 TTN T C 4 0.109425 0.0233 . 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 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 Benign/Likely_benign . . . 0.0249 synonymous_SNV exonic . 0.0678969 . . . . . . . . 0.0211 Name\x3d98.865320 1 2 179499038 MIR548N A G 4 0.109625 0.0232 . . . . . . . . . ncRNA_intronic . 0.0115716 . . . . . . . . . . -2 2 179499530 TTN T C 3 0.0305511 0.0233 1.512 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 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 Benign/Likely_benign . . . 0.0260 nonsynonymous_SNV exonic . 0.0279751 T . . . B T . . 0.0205 Name\x3d98.890441 2.5 2 179500629 MIR548N C T 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 2 2 179500777 TTN C T 1 0.000399361 0.0005 2.678 Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Muscular_Diseases|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 nonsynonymous_SNV exonic . 0.0003881 T . . . B T . . 0.0004 Name\x3d98.861749 4.5 2 179500790 TTN A G 5 0.0365415 0.0250 . 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 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 Benign/Likely_benign . . . 0.0278 synonymous_SNV exonic . 0.031455 . . . . . . . . 0.0220 Name\x3d98.936296 1 2 179501351 TTN G A 2 0.00119808 0.0043 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0052 synonymous_SNV exonic . 0.0032276 . . . . . . . . 0.0043 Name\x3d98.670542 3 2 179505896 MIR548N A G 5 0.0365415 0.0248 . . . . Name\x3dENSR00000629524|Enhancer . . . . ncRNA_intronic . 0.004573 . . . . . . . . . Name\x3d95.322958 0 2 179506911 MIR548N G A 2 0.00119808 0.0008 . . . . . . . 0.0018 . ncRNA_intronic . 0.0003428 . . . . . . . . . . 0 2 179509245 MIR548N T C 3 0.00159744 0.0005 . . . . . . . 0.0023 . ncRNA_intronic . 0.000718 . . . . . . . . 0.0007 . 4 2 179510833 MIR548N A T 4 0.10603 0.0048 . . . . . . . . . ncRNA_intronic . 7.68e-05 . . . . . . . . . . -2 2 179513923 MIR548N A T 4 0.0934505 0.0229 . . . . . . . . . ncRNA_intronic . 0.0101292 . . . . . . . . . . -2 2 179513966 MIR548N G A 1 0.000199681 6.507e-05 . . . . . . . 0.0003 . ncRNA_intronic . 1.94e-05 . . . . . . . . . . 2 2 179514208 MIR548N G A 5 0.0327476 0.0073 . . . . . . . . . ncRNA_intronic . 0.0025614 . . . . . . . . . . -2 2 179514420 MIR548N G A 3 0.0305511 0.0232 . . . . . . . . . ncRNA_intronic . 0.024781 . . . . . . . . . . -2 2 179514433 MIR548N T C 51 0.32488 0.1999 . . . . . . . . . ncRNA_intronic . 0.0458015 . . . . . . . . . . -2 2 179514479 MIR548N C T 2 0.00119808 0.0048 . . . . . . . . . ncRNA_intronic . 0.001022 . . . . . . . . . . 0 2 179514508 MIR548N A C 3 0.0305511 0.0233 . . . . . . . 0.0260 . ncRNA_intronic . 0.027477 . . . . . . . . 0.0195 . -2 2 179514941 TTN TTTTCCTCTTCAGGAGCAA T 5 0.033147 0.0078 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0113 nonframeshift_deletion exonic . 0.000401 . . . . . . . . 0.0049 Name\x3d97.840239,97.958201 1 2 179515437 MIR548N T G 3 0.0307508 0.0233 . . . . . . . 0.0355 . ncRNA_intronic . 0.0230721 . . . . . . . . 0.0198 . -2 2 179515472 MIR548N G A 2 0.00159744 0.0095 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign . . . 0.0192 . ncRNA_intronic . 0.0054398 . . . . . . . 0.004 0.0091 Name\x3d96.757213 -1 2 179515475 MIR548N T C 1 0.000199681 . . . . . . . . 9.423e-05 . ncRNA_intronic . 1.94e-05 . . . . . . 0.9964 0.846 . Name\x3d96.757213 4 2 179515483 TTN G C 2 0.0393371 0.0040 0.743 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 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 Benign/Likely_benign . . . 0.0106 nonsynonymous_SNV exonic . 0.0160865 T . . . B T . . 0.0034 Name\x3d95.484665 2.5 2 179516580 MIR548N G C 3 0.00838658 0.0215 . . . . . . . 0.0308 . ncRNA_intronic . 0.0199092 . . . . . . . . 0.0231 . -2 2 179516690 TTN G A 1 0.000399361 . . MedGen:CN169374 not_specified Likely_benign . . . 4.547e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d96.880171 5 2 179517019 TTN A T 1 0.00279553 0.0106 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0119 synonymous_SNV exonic . 0.0081694 . . . . . . . . 0.0110 Name\x3d97.299074 1 2 179517105 MIR548N G A 1 0.000199681 . . . . . . . . 1.845e-05 . ncRNA_intronic . 1.94e-05 . . . . . . . . . . 2 2 179517605 TTN G A 1 0.00638978 0.0060 1.597 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign . . . 0.0051 nonsynonymous_SNV exonic . 0.0058925 . . . . . . . . 0.0068 Name\x3d95.465734 4.5 2 179517632 TTN G A 2 0.00259585 0.0007 1.228 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0010 nonsynonymous_SNV exonic . 0.0010155 . . . . . . . . 0.0003 . 3.5 2 179517654 TTN T C 5 0.0365415 0.0250 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign . . . 0.0281 synonymous_SNV exonic . 0.030226 . . . . . . . . . Name\x3d96.078236 1 2 179517725 MIR548N T G 1 0.000199681 . . . . . . . . 3.788e-05 . ncRNA_intronic . 2.59e-05 . . . . . . . . . . 2 2 179518003 TTN A G 10 0.117013 0.0478 -0.768 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign . . . 0.0539 nonsynonymous_SNV exonic . 0.0002458 . . . . . . . . . . 1.5 2 179518170 TTN T G 1 0.000199681 . 0.677 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 . . . . . . . . . . 5.5 2 179518273 MIR548N G A 1 0.00159744 0.0109 . . . . . . . 0.0065 . ncRNA_intronic . 0.0006209 . . . . . . . . . . -2 2 179518854 MIR548N G A 2 0.00599042 0.0016 . . . . . . . 0.0018 . ncRNA_intronic . 0.0035511 . . . . . . . . . . 0 2 179518911 MIR548N TAGC T 42 0.109425 0.2015 . . . . . . . 0.1919 . ncRNA_intronic . 0.0009573 . . . . . . . . . . -2 2 179519086 MIR548N A T 1 0.0413339 0.0043 . . . . . . . . . ncRNA_intronic . 0.0102966 . . . . . . . . . . -2 2 179519330 MIR548N C A 11 0.103035 0.0156 . . . . . . . . . ncRNA_intronic . 0.0198248 . . . . . . . . . . -2 2 179519351 MIR548N T C 11 0.102436 0.0135 . . . . . . . . . ncRNA_intronic . 0.0217074 . . . . . . . . . . -2 2 179522337 MIR548N G A 5 0.136581 0.0087 . . . . . . . 0.0002 . ncRNA_intronic . 0.0050452 . . . . . . . . . . -2 2 179522377 MIR548N T C 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 6.5e-06 . . . . . . . . . . 2 2 179522513 MIR548N T C 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 6.5e-06 . . . . . . . . . . 2 2 179522795 MIR548N A G 1 0.000199681 . . . . . . . . 3.885e-05 . ncRNA_intronic . 6.5e-06 . . . . . . . . . . 2 2 179523368 MIR548N G A 51 0.0680911 0.1885 . . . . . . . . . ncRNA_intronic . 0.0388428 . . . . . . . . . . -2 2 179527095 TTN G A 4 0.0091853 0.0177 0.568 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign . . . 0.0275 nonsynonymous_SNV exonic . 0.0137967 . . . . . . . . . . 1.5 2 179527475 TTN C T 5 0.0329473 0.0063 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign . . . 0.0556 synonymous_SNV exonic . 0.0011578 . . . . . . . . . Name\x3d95.326013 1 2 179528068 TTN C A 2 0.057508 0.0041 1.906 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign . . . 0.0064 nonsynonymous_SNV exonic . 0.0234538 T . . . P . . . 0.0045 Name\x3d95.654090 2.5 2 179528335 MIR548N T C 4 0.0698882 0.0228 . . . . . . . 0.0248 . ncRNA_intronic . 0.0559566 . . . . . . . . 0.0221 . -2 2 179528378 TTN C T 14 0.259185 0.0575 2.900 MedGen:CN169374 not_specified Benign . . . 0.0642 nonsynonymous_SNV exonic . 0.135956 T . . . . . . . 0.0560 . 1.5 2 179529273 MIR548N A G 5 0.0367412 0.0249 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign . . . 0.0281 . ncRNA_intronic . 0.030834 . . . . . . 0.0005 0.084 0.0218 . -2 2 179529497 MIR548N T G 5 0.0369409 0.0249 . . . . . . . 0.0284 . ncRNA_intronic . 0.0304977 . . . . . . . . 0.0216 . -2 2 179529584 TTN A T 1 0.000199681 . 2.012 . . . . . . 2.134e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D . . . . Name\x3d95.139021 5 2 179531693 MIR548N A G 3 0.0309505 0.0233 . . . . . . . . . ncRNA_intronic . 0.0048512 . . . . . . . . . . -2 2 179534224 MIR548N C T 1 0.000399361 0.0001 . . . . . . . 6.467e-05 . ncRNA_intronic . 7.12e-05 . . . . . . . . . . 2 2 179534225 MIR548N G A 3 0.00838658 0.0217 . . . . . . . . . ncRNA_intronic . 0.0032923 . . . . . . . . . . -2 2 179535068 MIR548N T C 1 0.000199681 . . . . . . . . 0.0002 . ncRNA_intronic . 1.29e-05 . . . . . . . . . . 2 2 179537200 TTN C T 1 0.000998403 0.0043 2.829 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0064 nonsynonymous_SNV exonic . 0.0034152 T . . . B T . . 0.0036 Name\x3d96.025657 4.5 2 179538492 MIR548N C T 1 0.000798722 0.0053 . . . . . . . . . ncRNA_intronic . 0.0005627 . . . . . . . . 0.0016 . 0 2 179539803 TTN G A 1 0.000199681 . . MedGen:CN517202 not_provided Uncertain_significance . . . . synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d95.084435 5 2 179539812 TTN T G 2 0.00599042 0.0016 1.654 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0018 nonsynonymous_SNV exonic . 0.0036869 T . . . B T . . 0.0018 . 3.5 2 179539903 MIR548N C A 54 0.471246 0.2179 . . . . . . . . . ncRNA_intronic . 0.0584663 . . . . . . . . 0.2126 . -1 2 179540461 TTN G T 3 0.00159744 0.0039 2.531 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign . . . 0.1039 nonsynonymous_SNV exonic . 0.0012613 . . . . . . . . . Name\x3d97.741684 2.5 2 179541899 TTN C G 148 0.773363 0.7498 . . . . . . . 0.6667 . intronic . 0.111965 . . . . . . . . . . 0 2 179542046 TTN A G 1 0.000199681 . . . . . . . . 0.0833 . intronic . 1.29e-05 . . . . . . . . . . 0 2 179542068 TTN T C 4 0.0666933 0.0003 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 2 179542674 TTN C T 1 0.00419329 0.0101 . . . . . . . 0.0094 . intronic . 0.0068628 . . . . . . . . 0.0094 . 0 2 179543217 TTN C T 40 0.238419 0.1617 . 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.2426 synonymous_SNV exonic . 0.172566 . . . . . . . . 0.1604 Name\x3d97.837761 2 2 179543382 TTN T G 1 0.000199681 0.0003 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 4 2 179543399 TTN C T 2 0.00599042 0.0016 . . . . . . . . . intronic . 0.0019594 . . . . . . . . . . 2 2 179544427 TTN A G 2 0.00599042 0.0016 . MedGen:CN169374 not_specified Benign . . . 0.0021 . intronic . 0.0036351 . . . . . . . . 0.0017 . 2 2 179544701 TTN A G 1 0.000199681 . 0.576 . . . . . . 1.845e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1678488|N/A|GATA2|PAZAR . B T . . . Name\x3d97.359923 7.5 2 179544983 TTN C G 1 0.00159744 0.0019 1.435 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Likely_benign . . . 0.0023 nonsynonymous_SNV exonic . 0.0015718 T . . . B T . . 0.0033 Name\x3d97.235671 4.5 2 179545107 TTN C T 1 0.000399361 0.0003 . . . . . . . 0.0001 . intronic . 0.0001294 . . . . . . . . 0.0002 . 4 2 179545177 TTN C T 1 0.00199681 0.0012 . . . . . . . . . intronic . 0.0002846 . . . . . . . . . . 2 2 179545859 TTN C T 49 0.125998 0.3249 2.302 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 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 Benign/Likely_benign . . . 0.3004 nonsynonymous_SNV exonic . 0.234117 T . . . B T . . 0.3031 Name\x3d95.885390 2.5 2 179547455 TTN T C 3 0.00459265 0.0091 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0080 synonymous_SNV exonic . 0.0056985 . . . . . . . . 0.0086 . 6 2 179547465 TTN C T 2 0.00139776 0.0012 1.213 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0011 nonsynonymous_SNV exonic . 0.0009508 T . . . B T . . 0.0011 . 3.5 2 179547860 TTN A G 45 0.284944 0.1709 . . . . . . . . . intronic . 0.0357693 . . . . . . . . . . 0 2 179548633 TTN C CT 2 0.00599042 0.0017 . . . . . . . . . intronic . 0.0003842 . . . . . . . . . . 2 2 179548704 TTN T C 1 0.000798722 0.0029 . . . . . . . 0.0027 . intronic . 0.0017982 . . . . . . . . 0.0022 . 2 2 179549048 TTN C T 1 0.00279553 0.0106 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign . . . 0.0125 . intronic . 0.0081629 . . . . . . . . 0.0111 . 0 2 179549131 TTN C T 6 0.00539137 0.0169 2.951 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 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 Benign/Likely_benign . . . 0.0178 nonsynonymous_SNV exonic . 0.0120956 T . . . B T . . 0.0180 Name\x3d96.899228 2.5 2 179549407 TTN G A 4 0.00179712 0.0062 2.586 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0074 nonsynonymous_SNV exonic . 0.0051552 T . . . B D . . 0.0059 Name\x3d96.752270 7 2 179549474 TTN G A 1 0.000199681 0.0004 2.695 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 nonsynonymous_SNV exonic . 0.0003752 T . . . B T . . 0.0001 Name\x3d96.561560 6.5 2 179549500 TTN A G 2 0.00599042 0.0016 . . . . . . . 0.0018 . intronic . 0.0036869 . . . . . . . . 0.0020 . 2 2 179549608 TTN G GA 2 0.00599042 0.0016 . . . . . . . 0.0025 . intronic . 0.0033505 . . . . . . . . 0.0022 . 2 2 179549707 TTN G A 1 0.000798722 0.0023 2.765 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Likely_benign . . . 0.0047 nonsynonymous_SNV exonic . 0.0016106 T . . . B T . . 0.0021 Name\x3d98.297516 4.5 2 179550069 TTN T C 5 0.0329473 0.0073 . 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 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 Benign/Likely_benign . . . 0.0109 . intronic . 0.00815 . . . . . . 0.0006 0.168 0.0089 Name\x3d97.283838 1 2 179550302 TTN C T 1 0.000199681 . 2.215 . . . . . . . nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d95.885663 6.5 2 179550393 TTN T G 2 0.00599042 0.0016 . . . . . . . . . intronic . 0.0019594 . . . . . . . . . . 2 2 179553542 TTN G T 6 0.00539137 0.0173 . . . . . . . 0.0183 . intronic . 0.0123737 . . . . . . . . 0.0187 . 0 2 179553566 TTN A G 5 0.00658946 0.0065 . . . . . . . . . intronic . 0.0013583 . . . . . . . . . . 10 2 179553730 TTN ATTTTTTTT A 7 0.110423 . . . . . . . . 0.0007 . intronic . 0.0001294 . . . . . . . . . . 0 2 179553781 TTN T C 1 0.00139776 . . . . . . . . . synonymous_SNV exonic . 4.53e-05 . . . . . . 0.9996 0.986 . Name\x3d96.841759 4 2 179553787 TTN A G 2 0.00119808 . . . . . . . . . synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d96.841759 3 2 179553790 TTN A G 2 0.00119808 . . . . . . . . . synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d96.841759 3 2 179553793 TTN A G 2 0.00119808 . . . . . . . . . synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d96.738733 3 2 179553917 TTN G A 14 0.261581 0.0574 . . . . . . . . . intronic . 0.0241459 . . . . . . . . 0.0550 . 0 2 179554305 TTN C T 63 0.413339 0.3829 4.097 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 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 Benign/Likely_benign . . . 0.3711 nonsynonymous_SNV exonic . 0.373372 T . . . . T . . 0.3605 Name\x3d96.163603 2.5 2 179554549 TTN G C 1 0.000599042 0.0002 1.700 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0005 nonsynonymous_SNV exonic . 0.0002911 T . . . P D . . 0.0001 Name\x3d96.390007 3 2 179558282 TTN T A 50 0.322284 0.1945 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 1 2 179558366 TTN T C 55 0.477835 0.2276 1.533 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 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 Benign/Likely_benign . . . 0.2475 nonsynonymous_SNV exonic rs2042995|Waist-to-hip-ratio-adjusted-for-BMI-x-sex-interaction||6E-6|PMID:26426971 0.327027 T . . . . T . . 0.2286 Name\x3d95.986405 2.5 2 179563622 TTN C T 2 0.00339457 . . . . . . . . . synonymous_SNV exonic . 0.00011 . . . . . . . . . Name\x3d96.845248 3 2 179563702 TTN C T 8 0.00938498 0.0257 . . . . . . . . . intronic . 0.0161365 . . . . . . . . . . 0 2 179566398 TTN C G 2 0.00599042 0.0017 . . . . . . . . . intronic . 0.0020363 . . . . . . . . . . 2 2 179566802 TTN T TA 6 0.130192 0.0277 . 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 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 Benign/Likely_benign . . . 0.0452 . intronic . 0.0024062 . . . . . . . . 0.0286 . 0 2 179567230 TTN A G 2 0.00599042 0.0016 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0018 synonymous_SNV exonic . 0.0036545 . . . . . . . . 0.0019 Name\x3d97.300910 3 2 179567340 TTN G A 1 0.00119808 0.0104 2.770 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 Primary_dilated_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0055 nonsynonymous_SNV exonic . 0.0039391 T . . . B T . . 0.0041 Name\x3d97.130176 2.5 2 179567431 TTN A C 1 0.00539137 0.0016 . . . . . . . 0.0031 . intronic . 0.0046312 . . . . . . . . 0.0035 . 2 2 179569147 TTN T C 1 0.00219649 0.0024 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0027 . intronic . 0.001824 . . . . . . . . 0.0032 . 2 2 179569387 TTN T A 10 0.0105831 0.0301 2.427 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 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 Benign/Likely_benign . . . 0.0252 nonsynonymous_SNV exonic . 0.0191459 T . . . B T . . 0.0266 Name\x3d95.881356 2.5 2 179569400 TTN C T 5 0.0842652 0.0260 . 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 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 Benign/Likely_benign . . . 0.0303 synonymous_SNV exonic . 0.0474444 . . . . . . . . 0.0243 Name\x3d97.068363 1 2 179569436 TTN A G 5 0.096845 0.0263 . 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 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 Benign/Likely_benign . . . 0.0313 synonymous_SNV exonic . 0.0518622 . . . . . . . . 0.0248 Name\x3d97.745865 1 2 179569583 TTN T A 2 0.00599042 0.0016 . . . . . . . 0.0018 . intronic . 0.0036739 . . . . . . . . 0.0018 . 2 2 179569705 TTN A G 2 0.00599042 0.0016 . MedGen:CN169374 not_specified Benign . . . 0.0018 . intronic . 0.0036675 . . . . . . 0.0004 0.008 0.0018 . 2 2 179570114 TTN A T 5 0.0866613 0.0261 . . . . . . . 0.0379 . intronic . 0.0297732 . . . . . . . . 0.0227 . 0 2 179570122 TTN C A 3 0.0513179 0.0239 . . . . . . . 0.0289 . intronic . 0.0215521 . . . . . . . . 0.0195 . 0 2 179571448 TTN A G 5 0.127396 0.0255 2.835 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 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 Benign/Likely_benign . . . 0.0284 nonsynonymous_SNV exonic . 0.0753807 T . . . B T . . 0.0261 Name\x3d97.246323 2.5 2 179571697 TTN C T 5 0.0942492 0.0248 . MedGen:CN169374 not_specified Benign . . . 0.0393 . intronic . 0.0609436 . . . . . . . . 0.0239 . 0 2 179572222 TTN G T 2 0.00898562 . . . . . . . . 2.179e-05 . intronic . 0.0002911 . . . . . . . . . . 2 2 179572445 TTN C T 1 0.000199681 0.0001 3.339 MedGen:CN169374 not_specified Uncertain_significance . . . 9.21e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . P T . . . Name\x3d97.437924 6.5 2 179574384 TTN C T 5 0.0752796 0.0257 . 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 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 Benign/Likely_benign . . . 0.0297 synonymous_SNV exonic . 0.0460861 . . . . . . . . 0.0237 Name\x3d98.128889 1 2 179575295 TTN C T 1 0.000199681 0.0010 . . . . . . . . . intronic . 5.82e-05 . . . . . . . . . . 2 2 179575511 TTN C T 11 0.0273562 0.0549 3.915 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 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 Benign/Likely_benign . . . 0.0508 nonsynonymous_SNV exonic . 0.0463448 T . . . B T . . 0.0570 Name\x3d98.412747 2.5 2 179575949 TTN G T 28 0.0740815 . . MedGen:CN230736 Cardiovascular_phenotype Likely_benign . . . 7.38e-05 synonymous_SNV exonic rs200655768|Epstein-Barr-virus-copy-number-in-lymphoblastoid-cell-lines||3E-7|PMID:28654678 0.0024062 . . . . . . . . . Name\x3d96.821472 1 2 179576855 TTN A G 1 0.000998403 0.0005 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0007 synonymous_SNV exonic . 0.0006404 . . . . . . . . 0.0009 Name\x3d98.004203 3 2 179577736 TTN G A 2 0.00599042 0.0016 . . . . . . . 0.0018 . intronic . 0.0036287 . . . . . . . . 0.0020 . 2 2 179577998 TTN T C 1 0.00219649 0.0020 1.184 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0022 nonsynonymous_SNV exonic . 0.0027813 T . . . P T . . 0.0005 Name\x3d97.404834 4.5 2 179578108 TTN T TACAAA,TACAAAACAAA 1 0.0211661 0.0024 . 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 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 Benign/Likely_benign . . . 0.0008 . intronic . 0.0009056 . . . . . . . . 0.0499 . 0 2 179578159 TTN A G 2 0.00359425 0.0153 . . . . . . . . . intronic . 0.0114876 . . . . . . . . . . 0 2 179578703 TTN C T 3 0.00459265 0.0045 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0040 synonymous_SNV exonic . 0.0045795 . . . . . . . . 0.0034 Name\x3d95.749361 7 2 179578704 TTN G A 5 0.111422 0.0251 2.101 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 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 Benign/Likely_benign . . . 0.0281 nonsynonymous_SNV exonic . 0.0705812 T . . . B T . . 0.0256 Name\x3d95.749361 2.5 2 179578730 TTN G A 50 0.444688 0.2013 . 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 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 Benign/Likely_benign . . . 0.2029 synonymous_SNV exonic . 0.296794 . . . . . . . . 0.2012 Name\x3d97.007646 1 2 179578937 TTN A G 5 0.0804712 0.0260 . . . . . . . 0.0300 . intronic . 0.0473215 . . . . . . . . 0.0238 . 0 2 179579093 TTN T C 40 0.247005 0.1494 -0.712 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.1451 nonsynonymous_SNV exonic . 0.175845 T . . . B T . . 0.1506 Name\x3d96.090561 3.5 2 179579212 TTN T C 50 0.483427 0.2009 . 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 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 Benign/Likely_benign . . . 0.2045 synonymous_SNV exonic . 0.307622 . . . . . . . . 0.2019 Name\x3d96.792847 2 2 179579366 TTN G A 5 0.0800719 0.0260 . . . . . . . . . intronic . 0.0079106 . . . . . . . . . . 0 2 179579694 TTN T A 5 0.0754792 0.0260 . MedGen:CN169374 not_specified Benign . . . 0.0302 . intronic . 0.0453293 . . . . . . . . 0.0237 . 0 2 179579822 TTN T A 50 0.444489 0.2008 . 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 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 Benign/Likely_benign . . . 0.2026 synonymous_SNV exonic . 0.290714 . . . . . . . . 0.2005 Name\x3d96.537750 2 2 179579977 TTN G A 8 0.00938498 0.0259 3.568 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0199 nonsynonymous_SNV exonic . 0.0163905 T . . . B T . . 0.0223 Name\x3d96.742853 2.5 2 179580171 TTN T C 1 0.000199681 . . . . . . . . 1.904e-05 . intronic . 1.29e-05 . . . . . . . . . . 4 2 179580210 TTN G A 5 0.111422 0.0250 . 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 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 Benign/Likely_benign . . . 0.0282 . intronic . 0.0703484 . . . . . . . . 0.0251 . 0 2 179580434 TTN A G 3 0.0507188 0.0239 . 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 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 Benign/Likely_benign . . . 0.0430 synonymous_SNV exonic . 0.0359374 . . . . . . . . 0.0215 Name\x3d96.497784 1 2 179580525 TTN C T 5 0.111422 0.0251 . . . . . . . 0.0394 . intronic . 0.053738 . . . . . . . . 0.0246 . 0 2 179581835 TTN C A 3 0.0513179 0.0239 0.191 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 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 Benign/Likely_benign . . . 0.0277 nonsynonymous_SNV exonic . 0.0369853 T . . . . T . . 0.0214 Name\x3d96.868842 2.5 2 179581933 TTN T G 7 0.028754 . 1.592 . . . . . . . nonsynonymous_SNV exonic . 0.0009314 T . . . D T . . . Name\x3d96.857827 1 2 179581971 TTN C T 2 0.00599042 0.0016 2.691 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0018 nonsynonymous_SNV exonic . 0.0037192 T . . . D D . . 0.0019 Name\x3d97.234590 6 2 179582063 TTN A T 2 0.028754 0.0021 0.979 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 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 Benign/Likely_benign . . . 0.0024 nonsynonymous_SNV exonic . 0.0103492 T . . . B T . . 0.0027 Name\x3d96.417210 2.5 2 179582162 TTN C T 40 0.24401 0.1496 . . . . . . . . . intronic . 0.0347538 . . . . . . . . . . 1 2 179582166 TTN G A 1 0.000199681 0.0002 . . . . . . . . . intronic . 4.53e-05 . . . . . . . . . . 4 2 179582327 TTN C T 40 0.24381 0.1495 1.700 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 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 Benign/Likely_benign . . . 0.1456 nonsynonymous_SNV exonic . 0.17503 T . . . B T . . 0.1508 Name\x3d95.891581 3.5 2 179582537 TTN G T 50 0.444888 0.2006 2.566 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 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 Benign/Likely_benign . . . 0.2042 nonsynonymous_SNV exonic . 0.294537 T . . . . T 0.0003 0.03 0.2018 Name\x3d96.894624 3.5 2 179582605 TTN A G 42 0.279153 0.1523 . . . . . . . . . intronic . 0.0369594 . . . . . . . . . . 1 2 179582760 TTN T C 1 0.00159744 0.0070 1.518 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0100 nonsynonymous_SNV exonic . 0.0060737 T . . . B T . . 0.0076 Name\x3d96.831918 4.5 2 179582824 TTN C T 3 0.0235623 0.0077 . 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 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 Benign/Likely_benign . . . 0.0114 synonymous_SNV exonic . 0.0129623 . . . . . . . . 0.0069 Name\x3d96.076578 1 2 179582853 TTN T C 5 0.0121805 0.0256 1.513 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 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 Benign/Likely_benign . . . 0.0295 nonsynonymous_SNV exonic . 0.0214616 T . . . B T . . 0.0308 Name\x3d96.939035 2.5 2 179583317 TTN G A 23 0.0734824 0.1118 . 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.1052 synonymous_SNV exonic . 0.0885305 . . . . . . . . 0.1101 Name\x3d97.103769 1 2 179583326 TTN T G 1 0.00499201 . 1.396 . . . . . . . nonsynonymous_SNV exonic . 0.0001617 T . . . D T 0.0012 0.03 . Name\x3d97.564293 3 2 179583398 TTN T C 42 0.271565 0.1523 . . . . . . . 0.1481 . intronic . 0.185825 . . . . . . . . 0.1537 . 1 2 179583496 TTN T G 40 0.238818 0.1498 0.820 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.1447 nonsynonymous_SNV exonic . 0.174739 T . . . B D . . 0.1517 Name\x3d96.218816 1 2 179583966 TTN C T 1 0.000199681 6.488e-05 3.412 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . B D . . . Name\x3d97.010188 8 2 179583967 TTN G A 2 0.00599042 0.0016 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0019 synonymous_SNV exonic . 0.0036739 . . . . . . . . 0.0019 Name\x3d97.010188 3 2 179584152 TTN G A 1 0.000399361 0.0001 3.575 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 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 Conflicting_interpretations_of_pathogenicity . . . 1.849e-05 nonsynonymous_SNV exonic . 0.0001423 D . . . D T . . 0.0001 Name\x3d97.661391 8 2 179584366 TTN G T 1 0.00279553 0.0016 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0022 synonymous_SNV exonic . 0.0031759 . . . . . . . . 0.0033 Name\x3d96.461981 3 2 179584831 TTN G C 2 0.00599042 0.0016 0.555 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0018 nonsynonymous_SNV exonic . 0.003661 T . . . P T . . 0.0020 Name\x3d97.280483 4.5 2 179585257 TTN G C 2 0.00499201 0.0016 1.967 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0026 nonsynonymous_SNV exonic . 0.0038809 T . . . B T . . 0.0021 Name\x3d97.021140 4.5 2 179585266 TTN C T 214 0.982029 0.9999 . 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 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 Benign/Likely_benign . . . 0.9997 synonymous_SNV exonic . 0.943694 . . . . . . . . 0.9999 Name\x3d97.079564 1 2 179585393 TTN A G 50 0.460064 0.2008 . 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 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 Benign/Likely_benign . . . 0.2129 . intronic . 0.298812 . . . . . . 0.0001 0.016 0.1985 . 1 2 179585963 TTN A G 3 0.0513179 0.0239 . . . . . . . 0.0387 . intronic . 0.0332208 . . . . . . . . 0.0210 . 0 2 179586604 TTN C G 8 0.0201677 0.0398 2.558 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 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 Benign/Likely_benign . . . 0.0353 nonsynonymous_SNV exonic . 0.0278651 T . . . D T . . 0.0386 Name\x3d97.768209 1 2 179586901 TTN G GT 2 0.00758786 0.0246 . . . . Name\x3dENSR00000629535|Enhancer . . 0.0205 . intronic . 0.0003558 . . . . . . . . 0.0223 . 1 2 179587130 TTN C G 40 0.247005 0.1499 2.840 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|MedGen:CN517202 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|not_provided Benign/Likely_benign Name\x3dENSR00000629535|Enhancer . . 0.1449 nonsynonymous_SNV exonic . 0.176026 T . . . D T . . 0.1523 Name\x3d97.414269 3 2 179587546 TTN A G 5 0.0940495 0.0250 . 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|MedGen:CN517202 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|not_provided Benign/Likely_benign Name\x3dENSR00000629535|Enhancer . . 0.0273 synonymous_SNV exonic . 0.0664222 . . . . . . . . 0.0242 Name\x3d98.479550 2 2 179587552 TTN T C 3 0.00279553 0.0090 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000629535|Enhancer . . 0.0121 synonymous_SNV exonic . 0.0074126 . . . . . . . . 0.0118 Name\x3d98.657078 2 2 179587670 TTN G A 1 0.000599042 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign Name\x3dENSR00000629535|Enhancer . . 0.0003 . intronic . 0.0001811 . . . . . . . . 0.0001 Name\x3d98.020239 4 2 179587687 TTN T C 50 0.48722 0.2017 . . . . Name\x3dENSR00000629535|Enhancer . . 0.2059 . intronic . 0.30693 . . . . . . . . 0.2016 . 2 2 179588535 TTN G A 3 0.00199681 0.0089 . . . . . . . 0.0046 . intronic . 0.003454 . . . . . . . . 0.0055 . 6 2 179588908 TTN A C 1 0.00219649 0.0020 . . . . . . . 0.0016 . intronic . 0.002749 . . . . . . . . 0.0005 . 2 2 179589058 TTN G A 2 0.0357428 0.0037 2.818 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 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 Benign/Likely_benign . . . 0.0042 nonsynonymous_SNV exonic . 0.0150904 T . . . B T . . 0.0031 Name\x3d97.299206 2.5 2 179589217 TTN C T 1 0.000199681 . 3.330 . . . . . . 1.856e-05 nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d97.020355 8 2 179589241 TTN G A 3 0.0515176 0.0194 3.167 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 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 Benign/Likely_benign . . . 0.0197 nonsynonymous_SNV exonic . 0.0467652 T . . . P T . . 0.0190 Name\x3d97.726248 2.5 2 179589260 TTN C T 1 0.000199681 6.483e-05 3.991 . . . . . . 1.937e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . D T . . . Name\x3d97.751399 5 2 179590133 TTN C G 2 0.000599042 0.0007 2.435 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0014 nonsynonymous_SNV exonic . 0.0006533 T . . . B T . . 0.0008 Name\x3d97.354348 4.5 2 179590329 TTN C T 3 0.00658946 0.0149 3.112 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0163 nonsynonymous_SNV exonic . 0.0119856 D . . . D T . . 0.0173 Name\x3d98.232425 4 2 179591757 TTN T C 1 0.000399361 . . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 4 2 179591917 TTN T C 2 0.00599042 0.0016 -1.660 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0018 nonsynonymous_SNV exonic . 0.003661 T . . . B T . . 0.0019 Name\x3d97.530850 4.5 2 179592161 TTN A G 3 0.0513179 0.0239 . . . . . . . . . intronic . 0.0062742 . . . . . . . . . . 0 2 179593270 TTN A G 1 0.00219649 0.0100 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0116 synonymous_SNV exonic . 0.0074449 . . . . . . . . 0.0104 Name\x3d97.545508 1 2 179593352 TTN C T 5 0.0932508 0.0250 1.515 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.0278 nonsynonymous_SNV exonic . 0.0656654 T . . . P T . . 0.0246 Name\x3d97.031751 2.5 2 179593862 TTN G A 1 0.0241613 0.0063 . 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 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 Benign/Likely_benign . . . 0.0068 synonymous_SNV exonic . 0.0238677 . . . . . . . . 0.0065 Name\x3d96.442886 1 2 179594059 TTN T C 2 0.00599042 0.0016 0.545 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0019 nonsynonymous_SNV exonic . 0.0037904 T . . . B T . . 0.0019 Name\x3d97.083578 4.5 2 179594653 TTN C A 1 0.000199681 . 3.147 . . . . . . 2.019e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P T . . . Name\x3d98.247269 6.5 2 179595117 TTN C G 46 0.348043 0.1770 . MedGen:CN169374 not_specified Benign . . . 0.1845 . intronic . 0.233147 . . . . . . . . 0.1789 . 1 2 179595372 TTN T C 1 0.00219649 0.0099 1.928 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0113 nonsynonymous_SNV exonic . 0.0074643 T . . . B T . . 0.0104 Name\x3d97.107385 2.5 2 179595577 TTN GT GTT,G 1 0.109225 0.0284 . . . . . . . . . intronic . 0.0034962 . . . . . . . . . . 0 2 179595588 TTN TA T 2 0.00858626 0.0197 . . . . . . . . . intronic . 0.0051099 . . . . . . . . . . 0 2 179595589 TTN A T 3 0.0205671 0.0004 . . . . . . . . . intronic . 0.0047641 . . . . . . . . . . 0 2 179596554 TTN T C 1 0.00199681 0.0066 -1.446 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0088 nonsynonymous_SNV exonic . 0.0058667 T . . . B T . . 0.0072 Name\x3d95.103214 4.5 2 179597242 TTN C A 1 0.000399361 0.0008 1.791 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0007 nonsynonymous_SNV exonic . 0.0005369 D . . . D D . . 0.0013 Name\x3d96.928142 6 2 179597273 TTN A G 1 0.000199681 0.0001 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0003 synonymous_SNV exonic . 0.0001876 . . . . . . . . 0.0002 Name\x3d97.163806 5 2 179597600 TTN C T 1 0.00359425 0.0095 2.783 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0075 nonsynonymous_SNV exonic . 0.0058214 T . . . B T . . 0.0091 Name\x3d97.575959 4.5 2 179598228 TTN A G 26 0.0295527 0.0769 . 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 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 Benign/Likely_benign . . . 0.0788 synonymous_SNV exonic . 0.0534663 . . . . . . . . 0.0792 Name\x3d96.551159 1 2 179599355 TTN G C 2 0.00599042 0.0016 . . . . . . . 0.0019 . intronic . 0.0034799 . . . . . . . . 0.0020 . 2 2 179599473 TTN C G 2 0.00339457 0.0038 1.514 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0041 nonsynonymous_SNV exonic . 0.0034864 T . . . P T . . 0.0038 Name\x3d97.148805 4.5 2 179599667 TTN G C 1 0.00439297 0.0109 1.674 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 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 Benign/Likely_benign . . . 0.0130 nonsynonymous_SNV exonic . 0.0072703 T . . . P T . . 0.0090 Name\x3d98.451773 2.5 2 179600303 TTN G C 1 0.00179712 0.0036 1.289 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0043 nonsynonymous_SNV exonic . 0.0031436 T . . . B T . . 0.0035 Name\x3d97.229185 4.5 2 179600563 TTN G A 214 0.981829 0.9999 . 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 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 Benign/Likely_benign . . . 0.9997 synonymous_SNV exonic . 0.943662 . . . . . . . . 0.9999 Name\x3d96.791376 1 2 179600648 TTN C T 7 0.144768 0.0466 0.315 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 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 Benign/Likely_benign . . Name\x3dMIMAT0004598|hsa-miR-141-5p|Experimental 0.0498 nonsynonymous_SNV exonic . 0.0916288 T . . . . T . . 0.0479 . 2.5 2 179603837 TTN C T 2 0.00599042 0.0016 . . . . . . . 0.0020 . intronic . 0.0025032 . . . . . . . . 0.0019 . 2 2 179604101 TTN C T 2 0.00599042 0.0016 2.576 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0019 nonsynonymous_SNV exonic . 0.0038033 T . . . B T . . 0.0019 Name\x3d97.099094 4.5 2 179604160 TTN T G 5 0.076278 0.0439 -1.298 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0458 nonsynonymous_SNV exonic . 0.0691194 T . . . B T . . 0.0431 Name\x3d95.067253 2.5 2 179604366 TTN T G 5 0.0760783 0.0438 -0.781 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0458 nonsynonymous_SNV exonic . 0.0690547 T . . . B T . . 0.0435 Name\x3d95.400124 2.5 2 179604440 TTN A G 1 0.000399361 . -1.764 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance . . . 9.203e-05 nonsynonymous_SNV exonic . 0.0002717 T . . . B T . . . Name\x3d95.247544 6.5 2 179604742 TTN G A 5 0.0766773 0.0439 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0458 synonymous_SNV exonic . 0.0696433 . . . . . . . . 0.0433 Name\x3d96.496540 1 2 179604871 TTN G A 1 0.000599042 . . . . . . . . 1.844e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d97.186491 3 2 179605180 TTN C A,T 1 0.238818 0.1308 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1289 synonymous_SNV exonic . 0.158594 . . . . . . . . 0.1283 . 1 2 179605380 TTN T A 1 0.00299521 0.0046 -0.005 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0057 nonsynonymous_SNV exonic . 0.0052975 T . . . B T . . 0.0067 . 3.5 2 179605705 TTN A G 5 0.0760783 0.0440 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0458 synonymous_SNV exonic . 0.0694299 . . . . . . . . 0.0437 . 0 2 179605725 TTN T C 9 0.0161741 0.0170 -1.264 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0182 nonsynonymous_SNV exonic . 0.0176582 T . . . B T . . 0.0185 . 1.5 2 179605755 TTN G C 1 0.000199681 . 0.306 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . . 5.5 2 179605991 TTN G A 3 0.00279553 0.0089 1.510 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0121 nonsynonymous_SNV exonic . 0.007432 T . . . B T . . 0.0118 Name\x3d95.507677 2.5 2 179606172 TTN C T 2 0.000798722 0.0005 0.926 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0006 nonsynonymous_SNV exonic . 0.0003299 T . . . B T . . 0.0007 . 3.5 2 179606538 TTN G A 12 0.273163 0.0716 1.979 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0859 nonsynonymous_SNV exonic . 0.165819 T . . . B T . . 0.0732 Name\x3d95.604801 2.5 2 179606590 TTN T C 2 0.000599042 0.0008 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0015 synonymous_SNV exonic . 0.0005433 . . . . . . . . 0.0010 . 2 2 179610967 TTN C T 2 0.00119808 0.0043 1.745 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0046 nonsynonymous_SNV exonic . 0.0028266 T . . . B D . . 0.0041 Name\x3d97.131287 3 2 179611279 TTN G A 1 0.000199681 . 1.499 . . . . . . . nonsynonymous_SNV exonic . 1.29e-05 T . . . D T . . . Name\x3d98.401742 5 2 179611552 TTN C T 1 0.000199681 0.0005 1.711 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance . . . 0.0003 nonsynonymous_SNV exonic . 0.0002717 T . . . B T . . 0.0005 Name\x3d98.492367 4.5 2 179611711 TTN C A 5 0.0772764 0.0440 0.758 MedGen:CN169374 not_specified Benign . . . 0.0458 nonsynonymous_SNV exonic . 0.0696757 T . . . D D . . 0.0433 Name\x3d97.067797 4 2 179611847 TTN T G 1 0.000998403 0.0004 . MedGen:CN169374 not_specified Likely_benign . . . 0.0002 synonymous_SNV exonic . 0.0005045 . . . . . . . . 0.0002 Name\x3d98.288260 3 2 179611851 TTN C T 1 0.0399361 0.0008 . MedGen:CN169374 not_specified Benign . . . 0.0005 synonymous_SNV exonic . 0.0021798 . . . . . . . . 0.0007 Name\x3d97.714041 1 2 179611875 TTN A G 1 0.0397364 0.0008 . MedGen:CN169374 not_specified Benign . . . 0.0002 synonymous_SNV exonic . 0.001727 . . . . . . . . 0.0007 Name\x3d98.259929 1 2 179612373 TTN A C 1 0.00579073 0.0019 . MedGen:CN169374 not_specified Benign . . . 0.0031 synonymous_SNV exonic . 0.0049353 . . . . . . . . 0.0037 Name\x3d96.505474 3 2 179612383 TTN C T 17 0.0145767 0.0498 1.322 MedGen:CN169374 not_specified Benign . . . 0.0562 nonsynonymous_SNV exonic . 0.0379943 T . . . B T . . 0.0582 Name\x3d96.567117 2.5 2 179612511 TTN G A 1 0.000399361 0.0005 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 synonymous_SNV exonic . 0.0003363 . . . . . . . . 0.0003 . 2 2 179612635 TTN C T 2 0.00599042 0.0018 0.214 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Benign/Likely_benign Name\x3dENSR00001041498|Enhancer . . 0.0024 nonsynonymous_SNV exonic . 0.004075 T . . . B T . . 0.0022 . 4.5 2 179612883 TTN A G 2 0.00339457 0.0108 . MedGen:CN169374 not_specified Benign . . . 0.0109 synonymous_SNV exonic . 0.0076648 . . . . . . . . 0.0128 . 0 2 179613049 TTN A G 1 0.000399361 0.0006 0.341 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0006 nonsynonymous_SNV exonic . 0.0005239 T . . . B T . . 0.0013 . 3.5 2 179613191 TTN T C 1 0.00259585 0.0068 0.041 MedGen:CN169374 not_specified Benign . . . 0.0109 nonsynonymous_SNV exonic . 0.0076196 T . . . B D . . 0.0093 . 0 2 179613651 TTN G A 7 0.0109824 0.0299 . MedGen:CN169374 not_specified Benign . . . 0.0285 synonymous_SNV exonic . 0.0222248 . . . . . . . . 0.0356 . 0 2 179613763 TTN T C 1 0.000798722 0.0003 0.715 Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202 Syncope|Hypertrophic_cardiomyopathy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 nonsynonymous_SNV exonic . 0.0003946 T . . . P D . . 0.0001 . 2 2 179614952 TTN A G 214 0.97504 0.9999 . MedGen:CN169374 not_specified Benign . . . 0.9997 synonymous_SNV exonic . 0.979502 . . . . . . . . 0.9992 . 0 2 179615318 TTN T G 1 0.000399361 . 0.356 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 0.0002393 T . . . B T . . . . 5.5 2 179615321 TTN G T 1 0.000199681 0.0001 . MedGen:CN169374 not_specified Benign . . . 0.0002 synonymous_SNV exonic . 0.0001617 . . . . . . . . 0.0002 . 4 2 179615887 TTN T C 202 0.733027 0.9310 0.654 MedGen:CN169374 not_specified Benign . . . 0.9248 nonsynonymous_SNV exonic rs922984|PR-interval|1.5|2E-11|PMID:30046033 0.828586 T . . . B T . . 0.9303 . 1.5 2 179615931 TTN C G 214 0.97504 0.9999 0.163 MedGen:CN169374 not_specified Benign . . . 0.9997 nonsynonymous_SNV exonic . 0.971107 T . . . B T . . 0.9992 . 1.5 2 179615994 TTN T C 214 0.97504 0.9999 . MedGen:CN169374 not_specified Benign . . . 0.9997 synonymous_SNV exonic . 0.979276 . . . . . . . . 0.9992 . 0 2 179616210 TTN G A 1 0.000998403 0.0019 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0012 synonymous_SNV exonic . 0.0009573 . . . . . . . . 0.0017 Name\x3d97.129566 3 2 179616481 TTN C T 1 0.000399361 0.0001 1.324 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 nonsynonymous_SNV exonic . 0.0005886 T . . . D D . . 0.0005 Name\x3d96.623886 6 2 179616770 TTN GAAA GAAAA,GAA,GA,G 1 0.00179712 0.0002 . . . . . . . 0.0039 . intronic . 0.0001294 . . . . . . . . . . 2 2 179618019 TTN T A 202 0.804513 0.9320 . . . . . . . . . intronic . 0.0004226 . . Name\x3dOREG1269466|N/A|SMARCA4|PAZAR . . . . . . . 1 2 179620951 TTN C T 202 0.804513 0.9322 3.252 MedGen:CN169374 not_specified Benign . . . 0.9269 nonsynonymous_SNV exonic . 0.845047 T . . . B T 0.0021 . 0.9321 Name\x3d97.122867 2.5 2 179621184 TTN G A 5 0.00519169 0.0156 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign . . . 0.0172 synonymous_SNV exonic . 0.0113323 . . . . . . . . 0.0146 . 0 2 179621477 TTN C T 214 0.999002 1 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 1 nonsynonymous_SNV exonic . 0.937963 . . . . . . . . 1 Name\x3d96.475236 2.5 2 179621503 TTN C T 6 0.00638978 0.0185 2.386 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign . . . 0.0209 nonsynonymous_SNV exonic . 0.0140166 T . . . B T . . 0.0176 Name\x3d97.079130 2.5 2 179623758 TTN C T 202 0.808906 0.9321 1.814 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 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 Benign/Likely_benign . . . 0.9270 nonsynonymous_SNV exonic . 0.852447 T . . . B T . . 0.9324 Name\x3d96.908843 2.5 2 179623772 TTN G A 2 0.00259585 0.0071 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0074 synonymous_SNV exonic . 0.0054398 . . . . . . . . 0.0087 Name\x3d97.267224 3 2 179623939 TTN T C 214 0.998403 1 . . . . . . . 1.0000 . intronic . 0.934619 . . . . . . . . 1 . 0 2 179628918 TTN C T 2 0.00379393 0.0152 3.746 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0141 nonsynonymous_SNV exonic . 0.0103944 T . . . B T . . 0.0164 Name\x3d97.820478 2.5 2 179629363 TTN T C 214 0.973642 0.9999 . 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 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 Benign/Likely_benign . . . 0.9997 synonymous_SNV exonic . 0.971275 . . . . . . . . 0.9992 Name\x3d97.496194 1 2 179629461 TTN C T 202 0.804912 0.9322 2.855 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 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 Benign/Likely_benign . . . 0.9268 nonsynonymous_SNV exonic . 0.850164 T . . . D T . . 0.9322 Name\x3d97.484036 1 2 179631091 TTN A T 2 0.000798722 0.0009 . MedGen:CN169374 not_specified Benign . . . 0.0013 . intronic . 0.0008667 . . . . . . . . 0.0015 . 2 2 179631214 TTN T C 11 0.167732 0.0677 . 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 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 Benign/Likely_benign . . . 0.0724 synonymous_SNV exonic . 0.135445 . . . . . . . . 0.0667 Name\x3d97.779455 1 2 179631357 TTN TA T 1 0.00199681 0.0003 . MedGen:CN169374 not_specified Benign . . . 0.0003 . intronic . 0.0007827 . . . . . . . . . . 2 2 179631362 TTN A C 15 0.145367 0.0745 . . . . . . . 0.0757 . intronic . 0.0175548 . . . . . . . . . . 0 2 179631364 TTN AC A 4 0.0846645 0.0236 . . . . . . . 0.0268 . intronic . 0.0001617 . . . . . . . . 0.0223 . 0 2 179632496 TTN T C 5 0.0860623 0.0221 1.376 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.0248 nonsynonymous_SNV exonic . 0.062179 T . . . B T . . 0.0212 Name\x3d97.311493 2.5 2 179632598 TTN C T 1 0.00159744 0.0108 4.072 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0056 nonsynonymous_SNV exonic . 0.0041655 T . Name\x3dOREG1859688|N/A|RUNX1|PAZAR . D T . . 0.0044 Name\x3d97.595183 2 2 179632710 TTN T C 165 0.503994 0.8001 . . . . . . . 0.7967 . intronic . 0.666201 . . Name\x3dOREG1859688|N/A|RUNX1|PAZAR . . . . . 0.7988 . 1 2 179633644 TTN G C 5 0.0866613 0.0221 . 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.0248 synonymous_SNV exonic . 0.062192 . . . . . . . . 0.0215 Name\x3d97.362301 1 2 179634389 TTN TA T 214 0.996605 0.1253 . . . . . . . 0.0428 . intronic . 0.00011 . . . . . . . . . . 0 2 179634391 TTN TA T 214 0.996605 0.1252 . MedGen:CN169374 not_specified Benign . . . 0.0397 . intronic . 0.0026843 . . . . . . . . . . 0 2 179634421 TTN T G 42 0.215455 0.0108 2.313 MedGen:CN169374 not_specified Benign . . . 0.3325 nonsynonymous_SNV exonic . 0.0071733 D . . . D T . . . Name\x3d98.579335 4 2 179634936 TTN C T 6 0.08127 0.0454 2.325 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 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 Benign/Likely_benign . . . 0.0475 nonsynonymous_SNV exonic . 0.0730327 T . . . B T . . 0.0451 Name\x3d98.565039 2.5 2 179634961 TTN C A 1 0.00758786 0.0233 2.904 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0212 nonsynonymous_SNV exonic . 0.015058 T . . . D T . . 0.0220 Name\x3d98.573169 1 2 179635882 TTN C T 214 0.967851 0.9997 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 2 179635888 TTN C T 1 0.000199681 6.488e-05 . . . . . . . 1.848e-05 . intronic . 3.23e-05 . . . . . . . . . . 4 2 179635919 TTN C T 11 0.0155751 0.0350 . MedGen:CN169374 not_specified Benign . . . 0.0359 . intronic . 0.0257371 . . . . . . . . 0.0377 . 0 2 179636257 TTN T A 6 0.0814696 0.0452 . . . . . . . . . intronic . 0.012626 . . . . . . . . . . 0 2 179637861 TTN C G 5 0.0754792 0.0440 1.057 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 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 Benign/Likely_benign . . . 0.0458 nonsynonymous_SNV exonic . 0.068796 T . . . B T . . 0.0433 Name\x3d95.704223 2.5 2 179638238 TTN G A 22 0.0754792 0.1139 . 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.1078 synonymous_SNV exonic . 0.0923533 . . . . . . . . 0.1147 Name\x3d98.210169 1 2 179638246 TTN C G 2 0.000399361 . 1.644 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D D . . . Name\x3d98.179970 8 2 179638721 TTN C T 5 0.0874601 0.0221 2.444 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.0253 nonsynonymous_SNV exonic . 0.0620238 T . . . D D . . 0.0221 Name\x3d98.341374 4 2 179640152 TTN C T 1 0.000199681 . 2.105 . . . . . . 1.843e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B D . . . Name\x3d99.881833 8 2 179641112 TTN C A 2 0.000798722 0.0009 2.291 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0013 nonsynonymous_SNV exonic . 0.0008667 T . . . P T . . 0.0015 Name\x3d99.877503 4.5 2 179641336 TTN C T 1 0.000199681 6.483e-05 3.253 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 3.684e-05 nonsynonymous_SNV exonic . 0.0001682 T . . . D D . . . Name\x3d99.898512 8 2 179641802 LOC101927055 A G 1 0.00579073 0.0014 . . . . . . . 0.0019 . ncRNA_exonic . 0.0038292 . . . . . . . . 0.0020 Name\x3d99.321781 1 2 179641975 TTN C T 5 0.0752796 0.0438 2.306 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 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 Benign/Likely_benign . . . 0.0454 nonsynonymous_SNV exonic rs12476289|QT-interval|0.29|2E-6|PMID:20031603 0.0688154 T . . . P T . . 0.0430 Name\x3d99.755814 2.5 2 179642425 LOC101927055 G A 212 0.911542 0.9892 . 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 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 Benign/Likely_benign . . . 0.9884 . ncRNA_exonic . 0.946476 . . . . . . . . 0.9914 Name\x3d99.642426 -1 2 179642589 TTN C G,T 212 0.000399361 . 4.476 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 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 Uncertain_significance . . . 3.687e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . D D . . . Name\x3d99.660324 16 2 179643775 TTN C T 1 0.00379393 0.0159 3.042 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 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 Benign/Likely_benign . . . 0.0099 nonsynonymous_SNV exonic . 0.0088356 T . . . D T . . 0.0073 Name\x3d99.754354 1 2 179643886 LOC101927055 A G 212 0.919928 0.9892 . . . . . . . 0.9885 . ncRNA_intronic . 0.952433 . . . . . . . . 0.9913 Name\x3d97.433063 -1 2 179643934 LOC101927055 A G 212 0.920128 0.9892 . . . . . . . 0.9885 . ncRNA_intronic . 0.94308 . . . . . . . . 0.9916 Name\x3d98.558053 -1 2 179644035 TTN G A 212 0.920128 0.9892 2.581 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 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 Benign/Likely_benign . . . 0.9885 nonsynonymous_SNV exonic . 0.956534 T . . . B T . . 0.9914 Name\x3d99.595224 2.5 2 179644160 TTN T C 5 0.0756789 0.0439 . 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 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 Benign/Likely_benign . . . 0.0571 synonymous_SNV exonic . 0.0675864 . . . . . . . . 0.0422 Name\x3d99.515780 1 2 179644848 TTN C G 1 0.000199681 6.482e-05 1.775 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 7.12e-05 T . . . B T . . . Name\x3d99.610085 6.5 2 179644855 TTN T C 188 0.5002 0.8670 2.524 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 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 Benign/Likely_benign . . . 0.8643 nonsynonymous_SNV exonic . 0.70208 T . . . B T . . 0.8702 Name\x3d99.771433 2.5 2 179647546 TTN A G 8 0.0776757 0.0517 . 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 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 Benign/Likely_benign . . . 0.0499 synonymous_SNV exonic rs55863869|QT-interval|1.92|2E-10|PMID:29213071 0.0718878 . . . . . . . . 0.0476 Name\x3d99.800342 1 2 179647823 TTN C T 2 0.0828674 0.0106 . . . . . . . 0.0120 . intronic . 0.037645 . . . . . . . . 0.0090 Name\x3d97.280250 1 2 179647824 TTN G A 6 0.0181709 0.0349 . . . . . . . 0.0335 . intronic . 0.0300966 . . . . . . . . 0.0362 Name\x3d97.280250 1 2 179648778 TTN C A 1 0.000199681 0.0003 . MedGen:CN169374 not_specified Likely_benign . . . 0.0004 . intronic . 0.0002393 . . . . . . . . 0.0006 Name\x3d98.170684 3 2 179649134 TTN C A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d95.914376 5 2 179650408 TTN G A 56 0.100439 0.2103 2.681 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 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 Benign/Likely_benign . . . 0.2378 nonsynonymous_SNV exonic . 0.174571 T . . . D D . . 0.2345 Name\x3d99.739854 4 2 179650701 TTN C T 81 0.204673 0.4251 . 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 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 Benign/Likely_benign . . . 0.4008 synonymous_SNV exonic . 0.322059 . . . . . . . . 0.4057 Name\x3d99.875789 1 2 179650932 TTN G A 1 0.000199681 0.0001 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d99.366185 5 2 179654032 TTN T G 2 0.00439297 0.0136 . . . . . . . . . intronic . 0.0019275 . . . . . . . . . Name\x3d99.596408 1 2 179654121 TTN G T 16 0.0644968 . 1.430 . . . . . Name\x3dMIMAT0000728|hsa-miR-375-3p|Experimental 0.0002 nonsynonymous_SNV exonic . 0.0020892 T . . . B D . . . Name\x3d99.519624 2 2 179654136 TTN C A 1 0.000199681 . 3.304 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B D . . . Name\x3d99.736727 5 2 179654695 TTN C G 2 0.00599042 0.0017 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0024 . intronic . 0.0041267 . . . . . . . . 0.0022 Name\x3d99.723088 3 2 179656963 TTN T C 1 0.000199681 0.0012 . . . . . . . 0.0012 . intronic . 0.000718 . . . . . . . . 0.0015 Name\x3d98.528760 3 2 179656977 TTN A C 3 0.00958466 0.0089 . . . . . . . . . intronic . 0.0016753 . . . . . . . . . Name\x3d98.421752 7 2 179656993 TTN A C 1 0.00339457 0.0064 . . . . . . . . . intronic . 0.0009573 . . . . . . . . . Name\x3d99.069894 3 2 179658175 TTN C T 5 0.00758786 0.0214 2.756 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 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 Benign/Likely_benign . . . 0.0194 nonsynonymous_SNV exonic . 0.0157048 T . . . B T . . 0.0233 Name\x3d99.726320 2.5 2 179658310 TTN T C 1 0.00119808 0.0107 . . . . . . . 0.0054 . intronic . 0.0038421 . . . . . . . . 0.0042 Name\x3d98.229434 1 2 179659064 TTN T C 1 0.000199681 0.0005 . . . . . . . . . intronic . 0.0001921 . . . . . . . . . . 2 2 179659110 TTN G A 2 0.00599042 0.0017 . MedGen:CN169374 not_specified Benign . . . 0.0024 . intronic . 0.0041138 . . . . . . . . 0.0022 . 2 2 179659334 TTN A C 2 0.0934505 0.0107 . . . . . . . . . intronic . 0.0062612 . . . . . . . . . Name\x3d97.484814 1 2 179659722 TTN G A 1 0.000199681 . 2.255 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B D . . . Name\x3d99.709739 5 2 179659757 TTN T C 2 0.00599042 0.0017 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0024 synonymous_SNV exonic . 0.0041267 . . . . . . . . 0.0022 Name\x3d99.603759 3 2 179659815 TTN C G 2 0.0119808 0.0019 2.453 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 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 Benign/Likely_benign . . . 0.0024 nonsynonymous_SNV exonic . 0.0056015 T . . . B T . . 0.0022 Name\x3d99.732317 2.5 2 179659912 TTN G A 12 0.236022 0.0542 2.207 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 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 Benign/Likely_benign . . . 0.0512 nonsynonymous_SNV exonic . 0.118575 T . . . B D . . 0.0531 Name\x3d99.284283 1 2 179659928 TTN C A 1 0.000199681 . 1.766 . . . . . . 9.204e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . B D . . . Name\x3d99.534258 5 2 179660030 TTN T C 4 0.101837 0.0125 . . . . . . . 0.0143 . intronic . 0.0449283 . . . . . . . . 0.0112 . 0 2 179665231 TTN G C 1 0.000199681 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign . . . 3.68e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . . Name\x3d99.771502 5 2 179665279 TTN G A 2 0.00599042 0.0017 . 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0024 synonymous_SNV exonic . 0.0041073 . . . . . . . . 0.0022 Name\x3d99.821198 3 2 179666830 TTN G A 19 0.0313498 0.0790 . . . . . . . 0.0817 . intronic . 0.0581752 . . . . . . . . 0.0849 . 0 2 179666956 TTN G A 1 0.000199681 . . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 7.365e-05 synonymous_SNV exonic . 5.17e-05 . . . . . . . . . Name\x3d99.685325 5 2 179666982 TTN C A 3 0.0289537 0.0051 3.822 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 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 Benign/Likely_benign . . . 0.0066 nonsynonymous_SNV exonic . 0.0131499 T . . . D D . . 0.0059 Name\x3d99.658872 4 2 179667090 TTN C T 107 0.703474 0.5620 . . . . . . . 0.5710 . intronic . 0.602754 . . . . . . . . 0.5384 Name\x3d99.038438 1 2 179669199 TTN C T 1 0.000998403 0.0020 . . . . Name\x3dENSR00000629547|Promoter . . . . intronic . 0.0016905 . . . . . . . . . Name\x3d98.941845 4 2 179669227 TTN CTGGAG C 2 0.0628994 0.0105 . . . . Name\x3dENSR00000629547|Promoter . . . . intronic . 0.0008021 . . . . . . . . 0.0086 Name\x3d98.987319,99.153827 2 2 179669244 TTN G GA 1 0.00419329 0.0002 . . . . Name\x3dENSR00000629547|Promoter . . 0.0060 . intronic . 0.0002135 . . . . . . . . 0.0045 Name\x3d98.207101 4 2 220283259 DES A G 214 0.886182 0.9895 . 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|MedGen:CN517202 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign Name\x3dENSR00000637249|Promoter . . 0.9891 synonymous_SNV exonic . 0.877634 . . . . . . . . 0.9877 Name\x3d99.848673 3 2 220283277 DES T C 214 0.866014 0.9892 . 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|MedGen:CN517202 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign Name\x3dENSR00000637249|Promoter . . 0.9886 synonymous_SNV exonic . 0.0001358 . . . . . . . . 0.9880 Name\x3d99.863755 3 2 220283591 DES T A 1 0.000399361 0.0002 6.000 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120|Human_Phenotype_Ontology:HP:0001319,MedGen:C2267233|Human_Phenotype_Ontology:HP:0002091,MedGen:C3277226|Human_Phenotype_Ontology:HP:0002098,MedGen:C0476273,SNOMED_CT:271825005|Human_Phenotype_Ontology:HP:0002643,MedGen:C4281993|Human_Phenotype_Ontology:HP:0002747,MedGen:C3806467|Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|Human_Phenotype_Ontology:HP:0003701,MedGen:C0221629|Human_Phenotype_Ontology:HP:0003756,MedGen:C1533847,Orphanet:ORPHA98472|Human_Phenotype_Ontology:HP:0006517,MedGen:C0034050,SNOMED_CT:10501004|Human_Phenotype_Ontology:HP:0006530,MedGen:C0206062,Orphanet:ORPHA182095|Human_Phenotype_Ontology:HP:0006903,MedGen:C4024967|Human_Phenotype_Ontology:HP:0008997,MedGen:C1866012|Human_Phenotype_Ontology:HP:0009062,MedGen:C3806604|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Generalized_hypotonia|Neonatal_hypotonia|Restrictive_ventilatory_defect|Respiratory_distress|Neonatal_respiratory_distress|Respiratory_insufficiency_due_to_muscle_weakness|Muscular_Diseases|Proximal_muscle_weakness|Skeletal_myopathy|Pulmonary_alveolar_proteinosis|Interstitial_pulmonary_abnormality|Congenital_peripheral_neuropathy|Proximal_muscle_weakness_in_upper_limbs|Infantile_axial_hypotonia|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|not_provided Uncertain_significance Name\x3dENSR00000637249|Promoter . . 0.0002 nonsynonymous_SNV exonic . 7.76e-05 D . . . D D . . . Name\x3d99.934248 12 2 220283592 DES C T 9 0.0123802 0.0432 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign Name\x3dENSR00000637249|Promoter . . 0.0823 synonymous_SNV exonic . 0.0179817 . . . . . . . . 0.0352 Name\x3d99.934248 2 2 220283826 DES T G 214 1 1 . . . . Name\x3dENSR00000637249|Promoter . . . . intronic . 0.92777 . . . . . . . . . Name\x3d98.692797 2 2 220284779 DES C T 133 0.529353 0.6462 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000637249|Promoter . . 0.6272 . intronic . 0.601318 . . . . . . . . 0.6303 Name\x3d98.513007 2 2 220284873 DES G A 1 0.000399361 0.0001 6.700 Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Scapuloperoneal_weakness|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000637249|Promoter . . 0.0003 nonsynonymous_SNV exonic . 0.000207 D . . . D T . . 0.0002 Name\x3d99.830802 9 2 220284876 DES C T 4 0.00559105 0.0145 5.554 Gene:1732,Human_Phenotype_Ontology:HP:0000776,MeSH:D065630,MedGen:C0235833,OMIM:142340,Orphanet:ORPHA2140|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,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 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 Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000637249|Promoter . . 0.0152 nonsynonymous_SNV exonic . 0.0106014 D . . . P D 0.0534 0.296 0.0137 Name\x3d99.830802 5 2 220285054 DES A G 1 0.000199681 . 6.166 . . . Name\x3dENSR00000637249|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.934923 12 2 220285088 DES C T 5 0.00419329 0.0094 . Human_Phenotype_Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED_CT:699269005|MedGen:CN169374 Myofibrillar_myopathy|not_specified Benign Name\x3dENSR00000637249|Promoter . . 0.0141 . intronic . 0.0093854 . . . . . . . . 0.0109 Name\x3d98.852853 2 2 220285182 DES C A 7 0.0127796 0.0486 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000637249|Promoter . . 0.0509 . intronic . 0.035517 . . . . . . . . 0.0521 Name\x3d98.820483 2 2 220285273 DES C T 1 0.00419329 0.0002 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000637249|Promoter . . 7.369e-05 synonymous_SNV exonic . 0.0036157 . . . . . . . . 0.0001 Name\x3d99.917028 4 2 220285309 DES C T 81 0.33746 0.3420 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign Name\x3dENSR00000637249|Promoter . . 0.3600 synonymous_SNV exonic . 0.336574 . . . . . . . . 0.3555 Name\x3d99.948048 2 2 220285395 DES G A 1 0.000399361 . . . . . Name\x3dENSR00000637249|Promoter . . 3.697e-05 . intronic . 3.88e-05 . . . . . . . . . Name\x3d99.640491 6 2 220285666 DES G C 81 0.33766 0.3420 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign Name\x3dENSR00000637249|Promoter . . 0.3633 synonymous_SNV exonic . 0.334828 . . . . . . . . 0.3551 Name\x3d99.935688 2 2 220286142 DES G A 81 0.333666 0.3429 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign Name\x3dENSR00000637249|Promoter . . 0.3604 synonymous_SNV exonic . 0.337221 . . . . . . . . 0.3552 Name\x3d99.929558 2 2 220288562 DES C G 1 0.00539137 . . . . . Name\x3dENSR00000637249|Promoter . . 3.706e-05 . intronic . 0.0002199 . . . . . . . . . Name\x3d98.009519 4 2 220290674 DES G A 1 0.00978435 6.496e-05 1.930 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Primary_dilated_cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0001 nonsynonymous_SNV exonic . 0.0029172 D . . . P T . . 0.0001 Name\x3d99.933336 3 3 8775589 CAV3 C T 25 0.0425319 0.1252 . 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 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 Benign/Likely_benign Name\x3dENSR00000676564|Promoter . . 0.1268 synonymous_SNV exonic . 0.0890609 . . . . . . . . 0.1248 Name\x3d97.041043 0 3 8775661 CAV3 C T 71 0.371006 0.2651 . 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 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 Benign/Likely_benign Name\x3dENSR00000676564|Promoter . . 0.2664 synonymous_SNV exonic . 0.292357 . . . . . . . . 0.2388 Name\x3d97.931840 0 3 8775702 CAV3 G A 4 0.076877 0.0585 . MedGen:CN517202 not_provided not_provided Name\x3dENSR00000676564|Promoter . . 0.0558 . intronic . 0.0510925 . . . . . . . . 0.0499 . -1 3 8775724 CAV3 G A 3 0.000998403 0.0012 . . . . Name\x3dENSR00000676564|Promoter . . 0.0016 . intronic . 0.0012484 . . . . . . . . 0.0015 . 5 3 8787164 CAV3 AAGCGGGTGGCTTCTGTG A 27 0.0461262 0.1362 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Likely_benign . . . 0.1399 . intronic . 0.0027361 . . . . . . . . . Name\x3d96.069285,98.419569 -1 3 8787189 CAV3 G C 10 0.0648962 0.0933 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0874 . intronic . 0.0709823 . . . . . . . . 0.0891 Name\x3d98.419569 0 3 8787220 CAV3 T C 38 0.152955 0.2470 . 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 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 Benign/Likely_benign . . . 0.2366 synonymous_SNV exonic . 0.188866 . . . . . . . . 0.2410 Name\x3d99.338850 -1 3 8787313 CAV3 C G 2 0.000998403 0.0016 4.285 Human_Phenotype_Ontology:HP:0003236,MedGen:C0241005,OMIM:123320|Human_Phenotype_Ontology:HP:0006785,MedGen:C0686353,Orphanet:ORPHA263,SNOMED_CT:93153005|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832560|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C1853698,OMIM:606072,Orphanet:ORPHA97238|MedGen:C2678485,OMIM:611818|MedGen:C3280443,OMIM:614321|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Elevated_serum_creatine_phosphokinase|Limb-girdle_muscular_dystrophy|Long_QT_syndrome|Rippling_muscle_disease_2|Limb-girdle_muscular_dystrophy,_type_1C|Rippling_muscle_disease|Long_QT_syndrome_9|Distal_myopathy,_Tateyama_type|Familial_hypertrophic_cardiomyopathy_1|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0009 nonsynonymous_SNV exonic . 0.0011837 D . . . P T . . 0.0017 Name\x3d99.717448 1 3 8787330 CAV3 C T 4 0.00199681 0.0025 4.085 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678485,OMIM:611818|MedGen:C3279093|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_9|Long_QT_syndrome_2/9,_digenic|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0040 nonsynonymous_SNV exonic . 0.0028395 D . . . D T . . 0.0044 Name\x3d99.578455 8 3 12626019 RAF1 G A 3 0.00439297 0.0094 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN230736 Rasopathy|not_specified|Cardiovascular_phenotype Benign . . Name\x3dMIMAT0000252|hsa-miR-7-5p|Experimental 0.0113 synonymous_SNV exonic . 0.0073091 . . . . . . . . 0.0112 Name\x3d99.273534 2 3 12626516 RAF1 G A 92 0.364617 0.3588 . MedGen:CN169374 not_specified Benign . . . 0.3591 . intronic rs3729931|Cardiac-hypertrophy||7E-7|PMID:21348951 0.0021798 . . . . . . . . 0.3652 Name\x3d95.372492 3 3 12633168 RAF1 A G 8 0.0213658 0.0114 . MedGen:CN169374 not_specified Benign . . . 0.0132 . intronic . 0.01608 . . . . . . . . 0.0119 Name\x3d95.248269 2 3 12641349 RAF1 A G 2 0.00459265 0.0114 . MedGen:CN169374 not_specified Likely_benign . . . 0.0146 . intronic . 0.0105303 . . . . . . . . 0.0155 . 0 3 12641350 RAF1 A G 2 0.00459265 0.0114 . MedGen:CN169374 not_specified Likely_benign . . . 0.0146 . intronic . 0.0105367 . . . . . . . . 0.0156 . 0 3 12641873 RAF1 C T 1 0.000199681 . . . . . . . . 1.84e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.053672 5 3 12647830 RAF1 G A 1 0.00299521 0.0024 . . . . . . . 0.0048 . intronic . 0.0033893 . . . . . . . . 0.0042 Name\x3d99.163209 3 3 12650482 RAF1 T A 214 1 1 . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d96.949610 1 3 14166739 TMEM43 G C 1 0.00199681 0.0047 . . . . Name\x3dENSR00000148875|Promoter . . 0.0056 . intronic . 0.0032665 . . Name\x3dOREG1247986|N/A|SMARCA4|PAZAR,OREG1790899|N/A|RBL2|PAZAR,OREG1166145|N/A|TFAP2C|PAZAR,OREG1943771|N/A|ZNF263|PAZAR,OREG1811303|N/A|RBL2|PAZAR,OREG1777220|N/A|RBL2|PAZAR,OREG1795662|N/A|RBL2|PAZAR . . . . . 0.0037 Name\x3d99.808404 5 3 14166813 TMEM43 G C 1 0.00119808 0.0012 . . . . Name\x3dENSR00000148875|Promoter . . . . intronic . 0.0011142 . . Name\x3dOREG1795662|N/A|RBL2|PAZAR,OREG1811303|N/A|RBL2|PAZAR,OREG1943771|N/A|ZNF263|PAZAR,OREG1166145|N/A|TFAP2C|PAZAR,OREG1247986|N/A|SMARCA4|PAZAR,OREG1790899|N/A|RBL2|PAZAR . . . . . . Name\x3d99.263684 5 3 14166835 TMEM43 C T 27 0.245807 0.1160 . . . . Name\x3dENSR00000148875|Promoter . . . . intronic . 0.170778 . . Name\x3dOREG1247986|N/A|SMARCA4|PAZAR,OREG1790899|N/A|RBL2|PAZAR,OREG1943771|N/A|ZNF263|PAZAR,OREG1166145|N/A|TFAP2C|PAZAR,OREG1811303|N/A|RBL2|PAZAR . . . . . . Name\x3d99.413950 3 3 14171082 TMEM43 C T 1 0.00179712 0.0082 . . . . . . . 0.0061 . intronic . 0.0041785 . . . . . . . . 0.0055 Name\x3d98.458430 3 3 14172381 TMEM43 C T 9 0.00399361 0.0128 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0122 synonymous_SNV exonic . 0.0084928 . . . . . . . . 0.0121 Name\x3d99.696209 1 3 14172494 TMEM43 G A 1 0.00139776 . . . . . . . . 1.885e-05 . intronic . 0.0003169 . . . . . . . . . . 2 3 14173963 TMEM43 G T 54 0.45627 0.2917 . . . . . . . . . intronic . 0.0691194 . . . . . . . . . . 0 3 14174002 TMEM43 G A 1 0.000199681 . . . . . . . . 1.841e-05 . intronic . 1.29e-05 . . . . . . . . . . 4 3 14174146 TMEM43 T C 77 0.557308 0.4136 . . . . . . . 0.3986 . intronic . 0.457271 . . . . . . . . 0.4069 . 0 3 14174170 TMEM43 G C 1 0.000199681 6.494e-05 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 3 14174318 TMEM43 G A 3 0.00499201 0.0123 . . . . . . . 0.0101 . intronic . 0.0072962 . . . . . . . . 0.0095 . 0 3 14174427 TMEM43 A T 53 0.352636 0.2899 2.489 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.2795 nonsynonymous_SNV exonic . 0.31735 T . . . B T . . 0.2878 Name\x3d99.649266 2.5 3 14174454 TMEM43 G T 2 0.00798722 0.0215 . MedGen:CN169374 not_specified Benign . . . 0.0190 . intronic . 0.013842 . . . . . . . . 0.0226 . 0 3 14175262 TMEM43 T C 54 0.463259 0.2970 0.428 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.2869 nonsynonymous_SNV exonic . 0.366011 T . . . B T . . 0.2955 Name\x3d99.270300 2.5 3 14176446 TMEM43 G A 52 0.350839 0.2821 . . . . . . . . . intronic . 0.0617909 . . . . . . . . . . 0 3 14177251 TMEM43 G A 46 0.201877 0.2557 . . . . . . . . . intronic . 0.0472504 . . . . . . . . . . 0 3 14177433 TMEM43 G A 1 0.000599042 0.0006 . MedGen:CN517202 not_provided Likely_benign . . . 0.0010 . intronic . 0.0007956 . . . . . . . . 0.0015 . 2 3 14180633 TMEM43 C T 38 0.0964457 0.2079 . . . . . . . 0.2118 . intronic . 0.159856 . . Name\x3dOREG1485844|N/A|EGR1|PAZAR . . . . . 0.2149 . 2 3 14180706 TMEM43 C T 7 0.0213658 0.0184 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0213 synonymous_SNV exonic . 0.0200838 . . Name\x3dOREG1485844|N/A|EGR1|PAZAR . . . . . 0.02 Name\x3d99.493196 2 3 14180732 TMEM43 G A 1 0.000199681 . 6.388 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1485844|N/A|EGR1|PAZAR . D D . . . Name\x3d99.462727 9 3 14183326 TMEM43 T C 1 0.00579073 0.0104 . . . . . . . 0.0105 . UTR3 . 0.0070245 . . . . . . . . 0.0083 Name\x3d98.553780 1 3 32148371 GPD1L G T 1 0.000199681 0.0018 . . . . Name\x3dENSR00000150479|Promoter . . . . intronic . 0.001191 . . Name\x3dOREG1193921|N/A|TFAP2C|PAZAR,OREG1660415|N/A|FOXA1|PAZAR . . . . . . Name\x3d99.635226 3 3 32169509 GPD1L G A 1 0.000199681 . . . . . . . . . . intronic . 0.0001153 . . Name\x3dOREG1275263|N/A|SMARCA4|PAZAR . . . . . . . 3 3 32181709 GPD1L C A 1 0.000199681 6.48e-05 . . . . . . . 0.0003 . intronic . 0.00011 . . Name\x3dOREG1275264|N/A|SMARCA4|PAZAR . . . 0.0016 0.084 . . 3 3 32181710 GPD1L A T 1 0.000199681 6.484e-05 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance . . . 0.0003 . intronic . 0.00011 . . Name\x3dOREG1275264|N/A|SMARCA4|PAZAR . . . . 0.018 . . 3 3 32181725 GPD1L A G 1 0.000399361 0.0001 2.478 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance . . . 3.68e-05 nonsynonymous_SNV exonic . 6.47e-05 T . Name\x3dOREG1275264|N/A|SMARCA4|PAZAR . B T . . . Name\x3d99.360262 5.5 3 32181761 GPD1L C T 35 0.14976 0.1261 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1321 synonymous_SNV exonic . 0.129106 . . Name\x3dOREG1275264|N/A|SMARCA4|PAZAR . . . . . 0.1387 Name\x3d99.465636 0 3 32181798 GPD1L C T 2 0.000399361 6.482e-05 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign . . . 0.0003 synonymous_SNV exonic . 0.0001746 . . Name\x3dOREG1243675|N/A|SMARCA4|PAZAR,OREG1275264|N/A|SMARCA4|PAZAR . . . . . 0.0003 Name\x3d99.186835 4 3 32188248 GPD1L GA G 4 0.101637 0.0161 . . . . . . . 0.0181 . intronic . 0.0011643 . . Name\x3dOREG1862151|N/A|SPI1|PAZAR,OREG1769698|N/A|MITF|PAZAR,OREG1243677|N/A|SMARCA4|PAZAR . . . . . 0.0194 Name\x3d99.139296 0 3 32200322 GPD1L T C 46 0.479433 0.3227 . . . . . . . 0.3365 . intronic . 0.350979 . . . . . . . . 0.3065 . -1 3 32200588 GPD1L C T 2 0.000399361 0.0001 0.097 Human_Phenotype_Ontology:HP:0001522,MedGen:C1858430|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2673193,OMIM:611777|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Death_in_infancy|Brugada_syndrome|Brugada_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0001 nonsynonymous_SNV exonic . 9.06e-05 T . . . B T . . 0.0001 Name\x3d99.521506 4.5 3 32201104 GPD1L C T 1 0.000199681 . . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN230736 Brugada_syndrome|Cardiovascular_phenotype Likely_benign . . . 0.0001 synonymous_SNV exonic . 7.76e-05 . . . . . . . . . Name\x3d99.352555 3 3 32201123 GPD1L G T 1 0.000199681 . 2.083 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d98.912936 4.5 3 38591847 SCN5A G C 1 0.000399361 0.0017 -2.385 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C4551804,OMIM:601144|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|Brugada_syndrome_1|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0011384 T . Name\x3dOREG1506234|N/A|EGR1|PAZAR . B T . . 0.0016 Name\x3d99.870231 5.5 3 38591888 SCN5A C G 1 0.000199681 . -3.096 . . . . . . 1.938e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1506234|N/A|EGR1|PAZAR . B T . . . Name\x3d99.856033 7.5 3 38592406 SCN5A A G 76 0.492412 0.3233 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.3357 synonymous_SNV exonic rs1805126|Electrocardiographic-conduction-measures|0.6568|3E-20|PMID:23463857 0.379568 . . . . . . . . 0.3336 Name\x3d99.926716 1 3 38592799 SCN5A G A 1 0.000199681 . . MedGen:CN169374 not_specified Benign/Likely_benign . . . 7.36e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . . Name\x3d99.945261 5 3 38597180 SCN5A G A 1 0.00119808 0.0058 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0042 synonymous_SNV exonic . 0.0030207 . . . . . . . . 0.0045 Name\x3d99.910864 3 3 38597867 SCN5A C T 30 0.0854633 0.0874 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign . . . . . intronic . 0.0919394 . . . . . . . . . Name\x3d98.090329 2 3 38598669 SCN5A A G 12 0.127995 0.0582 . . . . . . . . . intronic . 0.0150063 . . . . . . . . 0.0597 Name\x3d95.485776 1 3 38601665 SCN5A C T 2 0.00359425 0.0121 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0130 synonymous_SNV exonic . 0.0084734 . . . . . . . . 0.0138 Name\x3d99.942324 1 3 38601722 SCN5A C G 1 0.000199681 . 1.309 . . . . . . 1.869e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . B T . . . Name\x3d99.927219 5 3 38603958 SCN5A G A 1 0.000199681 0.0001 5.635 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1859062,OMIM:603830|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Congenital_long_QT_syndrome|Brugada_syndrome|Long_QT_syndrome_3|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0002 nonsynonymous_SNV exonic . 0.000194 D Name\x3dOREG0070925|N/A|N/A|VistaEnhancers . . D D . . 0.0005 Name\x3d99.852384 10 3 38618080 SCN5A A G 11 0.0345447 0.0624 . . . . . . . . . intronic . 0.0090232 . . . . . . . . . . 0 3 38618142 SCN5A G A 1 0.00199681 0.0094 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202 Cardiomyopathy|Brugada_syndrome|not_specified|not_provided Benign . . . 0.0100 . intronic . 0.0054915 . . . . . . . . 0.0064 Name\x3d98.883231 3 3 38618342 SCN5A G A 1 0.000798722 0.0004 . . . . . . . . . intronic . 0.0005379 . . . . . . . . . Name\x3d96.382076 3 3 38622467 SCN5A T C 193 0.923123 0.8984 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.8887 synonymous_SNV exonic . 0.898106 . . . . . . . . 0.8830 Name\x3d99.925456 1 3 38622745 SCN5A C A 2 0.000399361 . 6.503 . . . . . . 4.181e-05 nonsynonymous_SNV exonic . 2.59e-05 D . . . D D . . . Name\x3d99.942508 11 3 38622868 SCN5A G A 8 0.0323482 0.0369 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN239310 Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0448 . intronic . 0.0328133 . . . . . . 0.0001 0.002 0.0430 Name\x3d99.755610 1 3 38627153 SCN5A G GGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT 8 0.359824 . . . . . . . . . . intronic . 0.0002264 . . . . . . . . . Name\x3d95.567744 1 3 38627537 SCN5A G T 1 0.000399361 0.0010 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0005 . intronic . 0.0003816 . . . . . . 0.0005 0.018 0.0007 Name\x3d99.883128 3 3 38628851 SCN5A A AC 2 0.00139776 0.0042 . . . . . . . 0.0039 . intronic . 0.0001423 . . . . . . . . 0.0042 Name\x3d98.598871 3 3 38628879 SCN5A C T 5 0.00239617 0.0035 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN239310 Cardiomyopathy|Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0047 . intronic . 0.0029948 . . . . . . . . 0.0031 Name\x3d99.719204 11 3 38640536 SCN5A C T 1 0.000199681 . . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Likely_benign . . . 3.949e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.937040 5 3 38645420 SCN5A T C 50 0.230431 0.2462 -1.102 . . . . . . 0.2219 nonsynonymous_SNV exonic . 0.219577 T . . . B T . . 0.2321 Name\x3d99.875248 2.5 3 38645506 SCN5A A G 2 0.00199681 0.0058 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0088 synonymous_SNV exonic . 0.0054268 . . . . . . . . 0.0081 Name\x3d99.911414 3 3 38645516 SCN5A C T 1 0.000399361 6.487e-05 2.390 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202 Brugada_syndrome|not_specified|not_provided Uncertain_significance . . . 5.131e-05 nonsynonymous_SNV exonic . 5.82e-05 T . . . B T . . 0.0001 Name\x3d99.902378 6.5 3 38646423 SCN5A C T 42 0.17512 0.2161 . MedGen:CN169374 not_specified Benign . . . 0.2262 . intronic . 0.170586 . . . . . . . . 0.1935 Name\x3d96.472926 1 3 38647642 SCN5A G T 42 0.151158 0.2081 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.1811 . intronic . 0.169442 . . . . . . 0.9992 0.79 0.1850 Name\x3d99.803424 2 3 38649621 SCN5A G A 1 0.000199681 . . . . . . . . 1.841e-05 . intronic . 5.82e-05 . . . . . . . . . Name\x3d97.063805 5 3 38651442 SCN5A G A 2 0.00139776 0.0044 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0054 synonymous_SNV exonic . 0.0039715 . . . . . . . . 0.0067 Name\x3d99.944546 3 3 38655354 SCN5A C A 1 0.000199681 . . . . . . . . 4.445e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.915269 5 3 38655358 SCN5A G A 1 0.000199681 0.0002 . . . . . . . 0.0005 . intronic . 0.0001488 . . . . . . . . 0.0006 Name\x3d99.915269 3 3 38655643 SCN5A C T 43 0.223043 0.1569 . . . . . . . . . intronic . 0.187606 . . . . . . . . . Name\x3d97.193966 1 3 38662276 SCN5A C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 3 38662310 SCN5A C T 1 0.000599042 . . . . . . . . . . intronic . 5.17e-05 . . . . . . . . . Name\x3d96.292862 3 3 38671768 SCN5A G T 10 0.0465256 0.0316 . MedGen:CN169374 not_specified Benign . . . 0.0335 . intronic . 0.0350125 . . . . . . . . 0.0368 . 0 3 38671840 SCN5A G A 1 0.00539137 0.0033 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0031 synonymous_SNV exonic . 0.0041267 . . . . . . . . 0.0029 Name\x3d99.885377 3 3 38671944 SCN5A G A 2 0.0644968 0.0185 . MedGen:CN169374 not_specified Benign . . . 0.0180 . intronic . 0.0311833 . . . . . . . . 0.0175 Name\x3d99.466462 1 3 38674475 SCN5A C T 11 0.0385383 0.0351 . . . . . . . . . intronic . 0.0076454 . . Name\x3dOREG1506233|N/A|EGR1|PAZAR . . . . . 0.0377 Name\x3d97.510145 2 3 38674652 SCN5A C T 2 0.000399361 . . . . . . . . 3.786e-05 synonymous_SNV exonic . 2.59e-05 . . Name\x3dOREG1506233|N/A|EGR1|PAZAR . . . . . . Name\x3d99.922518 6 3 38674712 SCN5A T C 178 0.781749 0.7795 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.7891 synonymous_SNV exonic . 0.763852 . . Name\x3dOREG1506233|N/A|EGR1|PAZAR . . . . . 0.8072 Name\x3d99.922640 2 3 38739353 SCN10A G A 1 0.000399361 0.0005 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign . . . 0.0006 synonymous_SNV exonic . 0.0004075 . . . . . . . . 0.0003 Name\x3d99.634544 1 3 38739455 SCN10A G A 1 0.000199681 0.0001 . . . . . . . 5.52e-05 synonymous_SNV exonic . 4.53e-05 . . . . . . . . 0.0002 Name\x3d99.788227 3 3 38739494 SCN10A G A 5 0.014377 0.0333 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.0298 synonymous_SNV exonic . 0.0256077 . . . . . . . . 0.0308 Name\x3d99.780425 -1 3 38739574 SCN10A T C 214 1 1 0.227 MedGen:CN169374 not_specified Benign . . . 1 nonsynonymous_SNV exonic . 0.938267 T . . . B T . . . Name\x3d99.865245 0.5 3 38739622 SCN10A C T 4 0.00638978 0.0136 0.274 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.0145 nonsynonymous_SNV exonic . 0.0119468 T . . . B T . . 0.0137 Name\x3d99.729685 0.5 3 38739845 SCN10A A G 201 0.92472 0.9126 . MedGen:CN169374 not_specified Benign . . . 0.9179 synonymous_SNV exonic . 0.910105 . . . . . . . . 0.9151 Name\x3d99.900556 -1 3 38740001 SCN10A C T 4 0.0579073 0.0141 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.0148 synonymous_SNV exonic . 0.0356852 . . . . . . . . 0.0142 Name\x3d99.325116 -1 3 38743314 SCN10A G A 1 0.00519169 0.0003 . MedGen:CN169374 not_specified Benign . . . 0.0005 . intronic . 0.0013907 . . . . . . . . 0.0006 . 0 3 38743571 SCN10A G A 1 0.000199681 0.0042 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign/Likely_benign . . . 0.0014 synonymous_SNV exonic . 0.0010543 . . . . . . . . 0.0009 Name\x3d99.483915 1 3 38743629 SCN10A G A 4 0.00359425 0.0066 . . . . . . . 0.0079 . intronic . 0.0054268 . . . . . . . . 0.0064 . 4 3 38748833 SCN10A T C 39 0.242412 0.1390 . MedGen:CN169374 not_specified Benign . . . 0.1379 synonymous_SNV exonic . 0.174959 . . . . . . . . 0.1430 Name\x3d99.480955 -1 3 38748883 SCN10A A G 1 0.000199681 . . . . . . . . 3.684e-05 . intronic . 2.59e-05 . . . . . . . . . Name\x3d97.405637 3 3 38752386 SCN10A T G 1 0.000199681 . . . . . . . . 2.034e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.769075 3 3 38753977 SCN10A C T 60 0.251997 0.2678 . . . . . . . 0.2707 . intronic . 0.24609 . . . . . . . . 0.2617 . -2 3 38755505 SCN10A G A 1 0.000199681 . 11.990 . . . . . . 3.682e-05 stopgain exonic . 3.23e-05 . . . . . . . . . Name\x3d99.338287 11 3 38755637 SCN10A A G 1 0.0740815 0.0132 . . . . . . . . . intronic . 0.005595 . . . . . . . . . . -2 3 38763863 SCN10A G C 61 0.219649 0.2670 . MedGen:CN169374 not_specified Benign . . . 0.2679 synonymous_SNV exonic . 0.239654 . . . . . . . . 0.2602 Name\x3d98.433880 -1 3 38764998 SCN10A A G 61 0.219649 0.2672 0.961 MedGen:CN169374 not_specified Benign . . . 0.3097 nonsynonymous_SNV exonic . 0.237862 T . . . B T . . 0.26 Name\x3d99.271556 0.5 3 38765075 SCN10A C T 1 0.000599042 . . . . . . . . 0.0004 . intronic . 0.0001876 . . . . . . . . 0.0001 Name\x3d95.395093 1 3 38766675 SCN10A A G 130 0.757987 0.6172 -0.943 MedGen:CN169374 not_specified Benign . . . 0.6060 nonsynonymous_SNV exonic rs6795970|Electrocardiographic-traits|14.81|1E-58|PMID:20062063 0.648258 T . Name\x3dOREG1250038|N/A|SMARCA4|PAZAR . B T . . 0.6019 Name\x3d98.896503 1.5 3 38766701 SCN10A C T 17 0.115415 0.1503 . MedGen:CN169374 not_specified Benign . . . 0.1400 synonymous_SNV exonic . 0.126564 . . Name\x3dOREG1250038|N/A|SMARCA4|PAZAR . . . . . 0.1414 Name\x3d99.136024 0 3 38766825 SCN10A A G 13 0.0844649 0.0479 . MedGen:CN169374 not_specified Benign . . . 0.0508 . intronic . 0.0616163 . . Name\x3dOREG1250038|N/A|SMARCA4|PAZAR . . . . . 0.0492 . -1 3 38768212 SCN10A G A 1 0.000599042 0.0013 4.779 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign . . . 0.0013 nonsynonymous_SNV exonic . 0.0009832 T . . . D D . . 0.0014 Name\x3d99.060883 4 3 38768247 SCN10A G A 70 0.190495 0.2663 . MedGen:CN169374 not_specified Benign . . . 0.2677 synonymous_SNV exonic . 0.231646 . . . . . . . . 0.2614 Name\x3d99.200632 -1 3 38768300 SCN10A T C 70 0.210663 0.2664 -1.544 MedGen:CN169374 not_specified Benign . . . 0.2684 nonsynonymous_SNV exonic . 0.235411 T . . . B T . . 0.2620 Name\x3d98.896335 0.5 3 38768334 SCN10A T C 17 0.135982 0.0621 . MedGen:CN169374 not_specified Benign . . . 0.0638 synonymous_SNV exonic . 0.0912989 . . . . . . . . 0.0648 Name\x3d99.434816 -1 3 38768427 SCN10A G T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.345942 3 3 38768609 SCN10A G A 1 0.000199681 6.48e-05 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 2 3 38769983 SCN10A C T 1 0.000199681 . . . . . . . . 3.873e-05 . intronic . 1.94e-05 . . . . . . . . . . 2 3 38770391 SCN10A A G 1 0.000199681 . 5.824 . . . . . . 3.751e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D D 0.1749 0.444 . Name\x3d99.575404 9 3 38780971 SCN10A G A 42 0.1873 0.2643 . . . . . . . 0.2540 . intronic . 0.0013519 . . . . . . . . 0.2509 . -2 3 38784010 SCN10A C A 1 0.000199681 . 2.858 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B D . . . Name\x3d99.500608 6 3 38784029 SCN10A T C 131 0.757788 0.6099 . MedGen:CN169374 not_specified Benign . . . 0.5996 . intronic rs6599250|PR-interval|3.8|4E-242|PMID:30046033 0.642851 . . . . . . 0.0001 0.01 0.5951 Name\x3d98.443089 -1 3 38784056 SCN10A A C 5 0.137979 0.0290 . . . . . . . 0.0294 . intronic . 0.0722759 . . . . . . . . 0.0297 Name\x3d96.946063 -1 3 38791482 SCN10A C T 5 0.137979 0.0279 . . . . . . . . . intronic . 0.0126518 . . . . . . . . . . -2 3 38791507 SCN10A C T 13 0.0880591 0.0476 . . . . . . . . . intronic . 0.0089779 . . . . . . . . . Name\x3d96.617260 -1 3 38793940 SCN10A A G 5 0.139976 0.0280 -0.356 MedGen:CN169374 not_specified Benign . . . 0.0283 nonsynonymous_SNV exonic . 0.0723859 T . . . B T . . 0.0280 Name\x3d99.103293 0.5 3 38793989 SCN10A G A 70 0.207668 0.2587 . MedGen:CN169374 not_specified Benign . . . 0.2635 synonymous_SNV exonic . 0.229538 . . . . . . . . 0.2523 Name\x3d99.526908 -1 3 38798171 SCN10A C T 70 0.207468 0.2570 . MedGen:CN169374 not_specified Benign . . . 0.2579 synonymous_SNV exonic . 0.227681 . . . . . . . . 0.2509 Name\x3d99.455034 -1 3 38802155 SCN10A A G 1 0.00139776 0.0027 . MedGen:CN169374 not_specified Likely_benign . . . 0.0031 . intronic . 0.0021539 . . . . . . . . 0.0031 . 0 3 38802251 SCN10A A G 77 0.388778 0.2872 . MedGen:CN169374 not_specified Benign . . . 0.2881 . intronic . 0.321044 . . . . . . . . 0.2826 . -2 3 38802620 SCN10A TGTCCCTATATGATACCAAGGGTCCAACCAGACCTTG T 3 0.0091853 0.0236 . . . . . . . . . intronic . 0.0005886 . . . . . . . . . . -2 3 38804951 SCN10A G A 2 0.00159744 0.0040 . . . . . . . 0.0045 . intronic . 0.0031436 . . . . . . . . 0.0064 . 0 3 38805069 SCN10A T C 4 0.0419329 0.0149 1.807 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.0155 nonsynonymous_SNV exonic . 0.0243852 T . . . B D . . 0.0159 Name\x3d99.229262 -1 3 38805130 SCN10A C G 7 0.11901 0.0481 . . . . . . . 0.0464 . intronic . 0.0664222 . . . . . . . . 0.0463 . -2 3 38805157 SCN10A G A 6 0.00279553 0.0106 . . . . . . . . . intronic . 0.0017011 . . Name\x3dOREG1281719|N/A|CEBPA|PAZAR . . . . . . . -1 3 38812708 SCN10A C T 77 0.416334 0.3809 . . . . . . . . . intronic . 0.0821852 . . . . . . . . . . -2 3 38835173 SCN10A T A 2 0.00379393 0.0098 . . . . . . . . . intronic . 0.0018111 . . . . . . . . . . 0 3 38835457 SCN10A G A 4 0.00299521 0.0105 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.0070 synonymous_SNV exonic . 0.0056338 . . . . . . . . 0.0107 Name\x3d99.461943 -1 3 38835461 SCN10A C A 2 0.00119808 0.0030 5.749 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C3809893,OMIM:615551|MedGen:CN169374 Brugada_syndrome|Episodic_pain_syndrome,_familial,_2|not_specified Likely_benign . . . 0.0033 nonsynonymous_SNV exonic . 0.0019146 D . . . D D . . 0.0030 Name\x3d99.225351 7 3 38835509 SCN10A T A 1 0.000599042 0.0034 . MedGen:CN169374 not_specified Likely_benign . . . 0.0013 . upstream . 0.0008279 . . . . . . . . 0.0013 Name\x3d99.753586 1 3 46899725 MYL3 G A 1 0.000199681 0.0002 . MedGen:CN169374 not_specified Benign . . . 0.0001 . UTR3 . 6.47e-05 . . . . . . . . 0.0002 Name\x3d98.939816 3 3 46900051 MYL3 G A 11 0.147165 0.0780 . . . . . . . . . intronic . 0.0189325 . . . . . . . . . Name\x3d96.867032 0 3 46902129 MYL3 T G 26 0.462859 0.1193 . MedGen:CN169374 not_specified Benign . . . 0.1266 . intronic . 0.247416 . . . . . . . . 0.1248 Name\x3d97.525554 -1 3 46902491 MYL3 C A 2 0.000998403 0.0021 . MedGen:C1837471,OMIM:608751|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_8|not_specified Benign/Likely_benign . . . 0.0019 . intronic . 0.0015782 . . . . . . . . 0.0037 Name\x3d99.302261 1 3 46902578 MYL3 C T 1 0.000399361 0.0003 . . . . . . . . . intronic . 0.000461 . . . . . . . . . Name\x3d97.766111 1 3 46904708 MYL3 C A 26 0.39397 0.1182 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000684896|Promoter . . 0.1250 . intronic . 0.209887 . . . . . . . . 0.1230 Name\x3d97.934619 1 3 46904812 MYL3 G A 3 0.0371406 0.0075 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837471,OMIM:608751|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_8|not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000684896|Promoter . . 0.0068 synonymous_SNV exonic . 0.0175095 . . . . . . . . 0.0074 Name\x3d99.539383 0 3 52485889 TNNC1 C T 1 0.000199681 . . . . . Name\x3dENSR00000152555|Promoter . . . . intronic . 6.5e-06 . . Name\x3dOREG1707415|N/A|HNF4A|PAZAR,OREG1732360|N/A|HNF4A|PAZAR . . . . . . Name\x3d98.807697 7 3 57743337 SLMAP C G 51 0.192492 0.1865 . . . . Name\x3dENSR00000153102|Promoter . . 0.1976 . UTR5 . 0.196828 . . Name\x3dOREG1256099|N/A|SMARCA4|PAZAR . . . . . 0.1936 Name\x3d97.513890 2 3 57835630 SLMAP G A 1 0.000399361 6.479e-05 . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 2 3 57843561 SLMAP C T 1 0.000599042 0.0001 . . . . . . . 0.0002 . intronic . 0.0001617 . . . . . . . 0.002 . . 0 3 57846577 SLMAP C A 55 0.228634 0.1997 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.2348 . intronic . 0.0131305 . . . . . . . . 0.1615 . -2 3 57846627 SLMAP A G 1 0.000798722 0.0012 . . . . . . . . . intronic . 0.0006531 . . . . . . . . . . 0 3 57847871 SLMAP A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 3 57857439 SLMAP A G 8 0.0147764 0.0459 . MedGen:CN169374 not_specified Benign . . . 0.0494 . intronic . 0.0342298 . . . . . . . . 0.0506 Name\x3d96.848298 -1 3 57882601 SLMAP C T 60 0.299521 0.2522 . MedGen:CN169374 not_specified Benign . . . 0.2697 synonymous_SNV exonic . 0.279466 . . . . . . . . 0.2420 . -2 3 57893558 SLMAP A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 3 57898376 SLMAP T A 7 0.0071885 0.0249 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign . . . 0.0288 synonymous_SNV exonic . 0.0167268 . . . . . . . . 0.0320 Name\x3d96.563219 -1 3 57898433 SLMAP A G 1 0.000399361 0.0002 . . . . . . . 0.0003 . intronic . 0.0002652 . . . . . . 0.0001 0.022 0.0005 . 0 3 57902639 SLMAP G A 9 0.0133786 0.0330 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign . . . 0.0323 synonymous_SNV exonic . 0.0233244 . . . . . . . . 0.0322 Name\x3d96.012318 -1 3 57908594 SLMAP CT C 51 0.1875 0.1819 . . . . . . . 0.2006 . intronic . 0.0059184 . . . . . . . . 0.1907 Name\x3d96.026722 -1 3 57912985 SLMAP G A 1 0.000399361 0.0001 . . . . . . . 0.0005 . intronic . 0.0001294 . . . . . . . . 0.0001 Name\x3d96.078911 1 3 57913141 SLMAP T A 1 0.000199681 . . . . . . . . . . UTR3 . 1.29e-05 . . . . . . . . . Name\x3d97.171516 3 3 180702494 DNAJC19 T G 1 0.00199681 0.0100 . MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374|MedGen:CN517202 3-methylglutaconic_aciduria_type_V|not_specified|not_provided Benign . . . 0.0079 synonymous_SNV exonic . 0.0043272 . . . . . . . . 0.0043 Name\x3d99.549875 1 3 180703653 DNAJC19 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d95.812597 3 3 180703663 DNAJC19 A C 1 0.00199681 0.0024 . . . . . . . 0.0050 . intronic . 0.0032341 . . . . . . . . 0.0062 . 0 3 180703743 DNAJC19 C T 1 0.000199681 . 4.150 . . . . . . 3.685e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d99.332081 4.5 3 180705871 DNAJC19 C T 3 0.00279553 0.0027 . MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374|MedGen:CN517202 3-methylglutaconic_aciduria_type_V|not_specified|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000162646|Promoter . . 0.0043 synonymous_SNV exonic . 0.0041591 . . . . . . . . 0.0044 Name\x3d99.637186 6 3 180705940 DNAJC19 C T 1 0.000199681 . . . . . Name\x3dENSR00000162646|Promoter . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d99.453258 4 3 180706141 DNAJC19 CT C 61 0.289936 0.0382 . . . . Name\x3dENSR00000162646|Promoter . . . . intronic . 0.0010373 . . . . . . . . . . -1 3 196771513 DLG1 G A 7 0.0251597 0.0561 4.635 . . . . . . 0.0537 nonsynonymous_SNV exonic . 0.0422634 T . . . D D . . 0.0471 . 3 3 196771521 DLG1 G A 1 0.000199681 0.0003 . . . . . . . 9.214e-05 synonymous_SNV exonic . 0.0001876 . . . . . . . . . . 4 3 196771554 DLG1 T C 7 0.0253594 0.0561 . . . . . . . 0.0538 synonymous_SNV exonic . 0.0422634 . . . . . . . . 0.0470 . 0 3 196778421 DLG1 A C 3 0.0115815 0.0022 . . . . . . . 0.0045 . intronic . 0.0074385 . . . . . . . . 0.0031 . 0 3 196778438 DLG1 C T 57 0.264577 0.2587 . . . . . . . 0.2668 . intronic . 0.258121 . . . . . . . . 0.28 . 0 3 196786804 DLG1 G A 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d95.639192 5 3 196792163 DLG1 C T 1 0.00419329 0.0240 7.123 . . . . . . 0.0248 nonsynonymous_SNV exonic . 0.0165781 T . Name\x3dOREG1262715|N/A|SMARCA4|PAZAR . P T . . 0.0245 . 1 3 196793475 DLG1 A T 7 0.0289537 0.0584 . . . . . . . . . intronic . 3.84e-05 . . Name\x3dOREG1262715|N/A|SMARCA4|PAZAR . . . . . . . 1 3 196795292 DLG1 TAATC T 1 0.00299521 0.0059 . . . . . . . . . intronic . 0.00073 . . . . . . . . . . 2 3 196795342 DLG1 A C 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 3 196795442 DLG1 T C 1 0.00119808 0.0017 . . . . . . . 0.0019 . intronic . 0.000912 . . . . . . . . 0.0020 . 2 3 196795990 DLG1 T C 2 0.000399361 6.488e-05 . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 4 3 196796231 DLG1 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 3 196796248 DLG1 TTTTC T 15 0.0369409 0.0447 . . . . . . . . . intronic . 0.0051099 . . . . . . . . . . 0 3 196802740 DLG1 T C 1 0.000199681 . 2.048 . . . . . . 1.843e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T 0.0137 0.028 . Name\x3d97.734434 6.5 3 196803647 DLG1 T C 63 0.252596 0.2817 . . . . . . . . . intronic . 0.0520368 . . . . . . . . . Name\x3d97.057768 1 3 196807928 DLG1 A C 4 0.00559105 0.0100 1.923 . . . . . . 0.0108 nonsynonymous_SNV exonic . 0.0076713 T . . . B T . . 0.0134 Name\x3d96.870038 2.5 3 196808026 DLG1 A C 1 0.000199681 0.0003 . . . . . . . 0.0003 . intronic . 0.0001617 . . . . . . . . . . 4 3 196817735 DLG1 A T 7 0.029353 0.0583 . . . . . . . 0.0562 . intronic . 0.0447019 . . Name\x3dOREG1262717|N/A|SMARCA4|PAZAR . . . . . 0.0502 . 1 3 196831946 DLG1 C T 3 0.00738818 0.0185 . . . . . . . . . intronic . 0.0024256 . . . . . . . . . . 0 3 196846378 DLG1 G A 1 0.000199681 . 2.660 . . . . . . 3.701e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d95.539963 6.5 3 196846437 DLG1 C T 34 0.0794728 0.1737 . . . . . . . 0.2002 . intronic . 0.129972 . . . . . . . . 0.1755 . 0 3 196865242 DLG1 C T 38 0.127995 0.1376 4.417 . . . . . . 0.1488 nonsynonymous_SNV exonic . 0.149519 T . . . P T . . 0.1473 . 1.5 3 196865301 DLG1 A G 7 0.0255591 0.0557 . . . . . . . 0.1794 . intronic . 0.028803 . . . . . . . . . . 0 3 196869518 DLG1 T C 57 0.257188 0.2615 . . . . . . . . . intronic . 0.051707 . . . . . . . . 0.2719 . 0 3 196869688 DLG1 A G 214 0.993211 1 . . . . . . . 1 . intronic . 0.944309 . . . . . . . . 0.9999 . 0 3 196876600 DLG1 G A 34 0.0766773 0.1735 . . . . . . . 0.1795 . intronic rs73210523|Educational-attainment-(years-of-education)|0.0122|6E-11|PMID:30038396 0.135134 . . . . . . . . 0.1783 . 0 3 196876717 DLG1 G A 1 0.00139776 0.0027 . . . . . . . 0.0023 . intronic . 0.0019081 . . . . . . . . 0.0031 . 2 3 196876775 DLG1 T TTA 34 0.105032 0.1734 . . . . . . . . . intronic . 0.0237437 . . . . . . . . . . 0 3 196921360 DLG1 T C 13 0.0145767 0.0504 2.040 . . . . . . 0.0464 nonsynonymous_SNV exonic . 0.0323476 T . . . B T . . 0.0443 . 1.5 3 196921477 DLG1 C T 2 0.000998403 0.0003 . . . . . . . 0.0007 . intronic . 0.0008797 . . . . . . . . 0.0009 . 2 3 197009609 DLG1 G A 1 0.000199681 . 4.090 . . . . . Name\x3dMIMAT0004588|hsa-miR-27b-5p|Experimental,MIMAT0000419|hsa-miR-27b-3p|Experimental,MIMAT0000232|hsa-miR-199a-3p|Experimental,MIMAT0000424|hsa-miR-128-3p|Experimental,MIMAT0004563|hsa-miR-199b-3p|Experimental 0.0001 nonsynonymous_SNV exonic . 7.12e-05 T . . . P T . . 0.0002 Name\x3d95.999583 7.5 4 113825680 ANK2 G T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d99.543641 5 4 113971067 ANK2 A G 1 0.000399361 0.0013 . . . . Name\x3dENSR00000172116|Promoter . . . . intronic . 0.000194 . . . . . . . . . Name\x3d99.677334 4 4 114117472 ANK2 C T 31 0.179113 0.1482 . . . . . . . . . intronic . 0.0300449 . . . . . . . . . Name\x3d97.032597 1 4 114117474 ANK2 A AT 31 0.179113 0.1484 . . . . . . . 0.1522 . intronic . 0.0047735 . . . . . . . . 0.1442 Name\x3d97.032597 1 4 114120284 ANK2 C T 3 0.0253594 0.0401 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Benign . . . 0.0333 . intronic . 0.029508 . . . . . . . . 0.0293 Name\x3d97.945297 1 4 114158111 ANK2 T C 1 0.000399361 0.0005 . . . . . . . 0.0006 . intronic . 0.0003752 . . . . . . . . 0.0005 . 2 4 114158395 ANK2 TA T 3 0.0107827 0.0376 . . . . . . . . . intronic . 0.0038036 . . . . . . . . . Name\x3d99.301541 1 4 114161619 ANK2 T C 2 0.00279553 0.0121 . . . . . . . 0.0107 . intronic . 0.007626 . . . . . . . . 0.0116 Name\x3d96.413888 1 4 114171076 ANK2 A G 5 0.0549121 0.0492 . . . . . . . . . intronic . 0.0083763 . . . . . . . . . . 0 4 114176848 ANK2 GA G 1 0.00159744 0.0393 . . . . . . . 0.2083 . intronic . 0.0008797 . . . . . . . . 0.1409 Name\x3d97.879617 1 4 114176850 ANK2 A G 1 0.00159744 . . . . . . . . . . intronic . 0.0001035 . . . . . . . . . Name\x3d97.879617 3 4 114179348 ANK2 C T 1 0.000399361 0.0006 . . . . . . . 0.0007 . intronic . 0.0003816 . . . . . . . . 0.0003 Name\x3d99.633578 3 4 114186005 ANK2 C T 3 0.0291534 0.0412 . . . . . . . 0.0244 . intronic . 0.0125483 . . . . . . . . 0.0318 Name\x3d97.147601 1 4 114186067 ANK2 A G 1 0.00159744 0.0028 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0095 synonymous_SNV exonic . 0.0017464 . . . . . . . . 0.0040 Name\x3d99.833615 3 4 114209691 ANK2 C T 28 0.0790735 0.1067 . . . . . . . 0.1182 . intronic . 0.101059 . . . . . . . . 0.1069 Name\x3d97.756851 1 4 114209732 ANK2 T C 32 0.177716 0.1139 . . . . . . . . . intronic rs29356|Diastolic-blood-pressure|1.91|1E-6|PMID:31469255 0.137659 . . . . . . . . . Name\x3d96.949094 1 4 114213551 ANK2 C T 4 0.00359425 0.0115 . . . . Name\x3dENSR00000733744|Promoter . . 0.0194 . intronic . 0.0105497 . . Name\x3dOREG1790870|N/A|RBL2|PAZAR . . . . . 0.0094 Name\x3d99.581974 3 4 114213561 ANK2 G A 1 0.00119808 0.0082 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related Benign/Likely_benign Name\x3dENSR00000733744|Promoter . . 0.0099 . intronic . 0.0046312 . . Name\x3dOREG1790870|N/A|RBL2|PAZAR . . . 0.0003 0.056 0.0071 Name\x3d99.753507 5 4 114213631 ANK2 C T 5 0.0215655 0.0456 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000733744|Promoter . . 0.0442 synonymous_SNV exonic . 0.0284343 . . Name\x3dOREG1790870|N/A|RBL2|PAZAR . . . . . 0.0366 Name\x3d99.911971 3 4 114213705 ANK2 C T 9 0.00499201 0.0102 . . . . Name\x3dENSR00000733744|Promoter . . 0.0154 . intronic . 0.0064876 . . Name\x3dOREG1790870|N/A|RBL2|PAZAR . . . . . 0.0122 Name\x3d99.340453 3 4 114214524 ANK2 G T 2 0.00479233 6.483e-05 . . . . Name\x3dENSR00000733744|Promoter . . . . intronic . 0.0002781 . . Name\x3dOREG1795619|N/A|RBL2|PAZAR . . . . . . Name\x3d99.835521 5 4 114214588 ANK2 C T 1 0.00419329 0.0080 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified Benign/Likely_benign Name\x3dENSR00000733744|Promoter . . 0.0097 . intronic . 0.0018176 . . Name\x3dOREG1795619|N/A|RBL2|PAZAR,OREG1777184|N/A|RBL2|PAZAR . . . 0.0001 0.014 0.0110 Name\x3d99.716817 3 4 114254240 ANK2 G T 1 0.000599042 0.0003 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0014 synonymous_SNV exonic . 0.0009638 . . . . . . . . 0.0009 Name\x3d99.846688 3 4 114254322 ANK2 A G 2 0.000399361 . 2.396 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D T . . . Name\x3d99.706599 8 4 114257201 ANK2 C T 19 0.260383 0.1040 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0981 synonymous_SNV exonic . 0.142657 . . . . . . . . 0.1038 Name\x3d99.755460 1 4 114257694 ANK2 A G 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 4 114260492 ANK2 G T 19 0.228634 0.1050 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374 Long_QT_syndrome|not_specified Benign/Likely_benign Name\x3dENSR00001086178|Enhancer . . 0.0986 . intronic . 0.134468 . . . . . . . . 0.1044 Name\x3d96.343325 2 4 114260538 ANK2 C T 19 0.230032 0.1047 . . . . Name\x3dENSR00001086178|Enhancer . . . . intronic . 0.0262804 . . . . . . . . . . 1 4 114263101 ANK2 T G 34 0.0479233 0.1237 . . . . . . . 0.1348 . intronic . 0.0940673 . . . . . . . . 0.1369 Name\x3d97.613844 1 4 114267023 ANK2 G A 214 0.9998 0.9995 . . . . . . . 0.9997 . intronic . 0.973843 . . . . . . . . 0.9997 Name\x3d97.556547 1 4 114269499 ANK2 T G 19 0.0894569 . . . . . . . . 0.0004 . intronic . 0.0028978 . . . . . . . . . Name\x3d99.524547 1 4 114269509 ANK2 G A 3 0.0960463 0.0182 . . . . . . . 0.0186 . intronic . 0.0393721 . . . . . . . . 0.0213 Name\x3d99.607284 1 4 114269552 ANK2 G A 38 0.284744 0.1606 . . . . . . . . . intronic . 0.0361056 . . . . . . . . . Name\x3d96.655079 1 4 114275177 ANK2 C G 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.640615 5 4 114275243 ANK2 C T 24 0.0389377 0.1211 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1145 synonymous_SNV exonic . 0.0808916 . . . . . . . . 0.1119 Name\x3d99.736381 1 4 114275541 ANK2 G A 57 0.26258 . 4.891 . . . . . . 0.0017 nonsynonymous_SNV exonic . 0.0085057 T . . . P D . . . Name\x3d99.921132 1 4 114275942 ANK2 C G 5 0.11881 0.0209 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0233 synonymous_SNV exonic . 0.0476902 . . . . . . . . 0.0244 Name\x3d99.647808 1 4 114275950 ANK2 C T 1 0.000199681 0.0012 1.613 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0009 nonsynonymous_SNV exonic . 0.0006533 T . . . P D . . 0.0007 Name\x3d99.647808 3 4 114275980 ANK2 G A 1 0.000998403 0.0010 3.507 Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Cardiac_arrest|Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Likely_benign . . . 0.0015 nonsynonymous_SNV exonic . 0.0009314 T . . . D D . . 0.0012 Name\x3d99.572303 6 4 114276422 ANK2 C G 3 0.00139776 0.0029 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . Name\x3dMIMAT0002174|hsa-miR-484|Experimental 0.0036 synonymous_SNV exonic . 0.0023221 . . . . . . . . 0.0033 Name\x3d99.886637 8 4 114276880 ANK2 T C 24 0.0920527 0.1245 -2.250 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000733758|Promoter . . 0.1196 nonsynonymous_SNV exonic . 0.0970169 T . Name\x3dOREG1217977|N/A|SMARCA4|PAZAR,OREG1857110|N/A|RUNX1|PAZAR . B T . . 0.1163 Name\x3d99.181926 4.5 4 114276884 ANK2 A G 38 0.284944 0.1611 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000733758|Promoter . . 0.1604 synonymous_SNV exonic . 0.185787 . . Name\x3dOREG1217977|N/A|SMARCA4|PAZAR,OREG0677412|N/A|FOXH1|JASPAR,OREG1857110|N/A|RUNX1|PAZAR . . . . . 0.1620 Name\x3d99.472388 3 4 114276957 ANK2 A C 1 0.000199681 0.0003 0.715 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Uncertain_significance Name\x3dENSR00000733758|Promoter . Name\x3dMIMAT0000423|hsa-miR-125b-5p|Experimental,MIMAT0000443|hsa-miR-125a-5p|Experimental 0.0002 nonsynonymous_SNV exonic . 0.000207 T . Name\x3dOREG1857110|N/A|RUNX1|PAZAR,OREG0432123|N/A|BATF::JUN|JASPAR,OREG1217977|N/A|SMARCA4|PAZAR,OREG1541715|N/A|ETS1|PAZAR . D D . . 0.0002 Name\x3d99.223977 11 4 114276986 ANK2 A T 1 0.000199681 . 4.593 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 1.94e-05 T . Name\x3dOREG1217977|N/A|SMARCA4|PAZAR,OREG1857110|N/A|RUNX1|PAZAR,OREG1541715|N/A|ETS1|PAZAR . P D . . . Name\x3d99.745621 6 4 114278277 ANK2 C T 14 0.187899 0.0371 0.373 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0409 nonsynonymous_SNV exonic . 0.0872628 T . . . B T . . 0.0457 Name\x3d99.526234 2.5 4 114278684 ANK2 C T 1 0.000199681 . . . . . . . Name\x3dMIMAT0004926|hsa-miR-708-5p|Experimental 1.84e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.059120 6 4 114278935 ANK2 C T 1 0.000199681 . 2.531 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D T . . . Name\x3d99.859512 8 4 114279422 ANK2 A G 26 0.0920527 0.1240 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1199 synonymous_SNV exonic . 0.0981941 . . . . . . . . 0.1158 Name\x3d99.272082 1 4 114279628 ANK2 T C 4 0.00399361 0.0126 4.950 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0109 nonsynonymous_SNV exonic . 0.0080917 D . . . D D . . 0.0090 Name\x3d99.821681 4 4 114279674 ANK2 C A 8 0.00998403 0.0296 2.371 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0257 nonsynonymous_SNV exonic . 0.0193529 D . . . B D . . 0.0317 Name\x3d99.641676 4 4 114280145 ANK2 G A 2 0.00199681 0.0024 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0046 synonymous_SNV exonic . 0.0026972 . . . . . . . . 0.0031 Name\x3d99.683714 3 4 114280169 ANK2 G A 1 0.000399361 0.0034 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0026 synonymous_SNV exonic . 0.0022315 . . . . . . . . 0.0043 Name\x3d99.818065 3 4 114284645 ANK2 C T 24 0.0756789 0.1240 . MedGen:C1970119,OMIM:600919|MedGen:CN169374 Cardiac_arrhythmia,_ankyrin_B-related|not_specified Benign . . . 0.1191 . intronic . 0.0913895 . . . . . . . . 0.1156 . 0 4 114286207 ANK2 T A 2 0.00199681 0.0024 4.753 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 Arrhythmia|Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0044 nonsynonymous_SNV exonic . 0.0026067 T . . . B T . . 0.0031 Name\x3d99.643542 4.5 4 114286357 ANK2 ATG A 198 0.76877 0.7821 . MedGen:CN169374 not_specified Benign . . . 0.5255 . intronic . 0.0001035 . . . . . . . . . Name\x3d97.447315 1 4 114289049 ANK2 A C 1 0.000199681 . . . . . . . . 1.87e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d97.691871 5 4 114289062 ANK2 G A 4 0.0714856 0.0205 . . . . . . . . . intronic . 0.0079559 . . . . . . . . . Name\x3d96.000845 1 4 114294308 ANK2 T C 38 0.313299 0.1614 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1580 synonymous_SNV exonic . 0.194545 . . . . . . . . 0.1601 Name\x3d99.769104 1 4 114302634 ANK2 C T 6 0.0177716 0.0281 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified Benign/Likely_benign Name\x3dENSR00001086182|Enhancer . . 0.0407 . UTR3 . 0.0294045 . . . . . . . . 0.0347 Name\x3d99.732055 2 4 120072006 MYOZ2 C T 1 0.000399361 0.0011 . . . . . . . 0.0018 . intronic . 0.000912 . . . . . . . . 0.0015 . 2 4 120072187 MYOZ2 A G 4 0.00379393 0.0125 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0149 synonymous_SNV exonic . 0.0098446 . . . . . . . . 0.0140 Name\x3d99.332482 1 4 120072233 MYOZ2 G C 145 0.54353 0.7029 . . . . . . . 0.6986 . intronic . 0.601726 . . . . . . . . 0.7245 . 2 4 120072238 MYOZ2 A G 145 0.544129 0.7026 . . . . . . . 0.6987 . intronic . 0.6371 . . . . . . . . 0.7248 . 2 4 120079159 MYOZ2 A G 145 0.546326 0.7052 . MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_16|not_specified|not_provided Benign . . . 0.6992 . intronic . 0.0002458 . . . . . . . . 0.7257 Name\x3d99.369454 3 4 120085448 MYOZ2 A G 7 0.0838658 0.0253 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0245 synonymous_SNV exonic . 0.0428714 . . . . . . . . 0.0248 Name\x3d99.754084 1 4 120107098 MYOZ2 G GT 37 0.240216 0.2051 . MedGen:CN169374 not_specified Benign . . . 0.2672 . intronic . 0.0057502 . . . . . . . . 0.1878 Name\x3d97.515454 1 4 186064502 SLC25A4 G A 4 0.0788738 0.0142 . MedGen:CN169374|MedGen:CN239267 not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions Benign Name\x3dENSR00000177010|Promoter . . 0.0185 . UTR5 . 0.0132857 . . Name\x3dOREG1514830|N/A|EGR1|PAZAR,OREG1274044|N/A|SMARCA4|PAZAR . . . . . 0.0099 Name\x3d99.145465 1 4 186066373 SLC25A4 T C 2 0.00239617 0.0146 . MedGen:CN169374|MedGen:CN239267|MedGen:CN517202 not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions|not_provided Benign/Likely_benign Name\x3dENSR00000177010|Promoter . . 0.0106 synonymous_SNV exonic . 0.0085963 . . . . . . . . 0.0105 Name\x3d99.780542 0 4 186067934 SLC25A4 G A 1 0.000199681 6.483e-05 . . . . . . . 1.841e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.870275 3 4 186423397 PDLIM3 G A 1 0.00379393 0.0047 . . . . . . . 0.0038 . UTR3 . 0.0052069 . . . . . . . . 0.0052 . 2 4 186423436 PDLIM3 G A 4 0.00858626 0.0131 . MedGen:CN169374 not_specified Benign . . . 0.0126 . UTR3 . 0.0109442 . . . . . . . . 0.0129 . 0 4 186423637 PDLIM3 G A 153 0.659545 0.8586 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.8488 synonymous_SNV exonic . 0.778496 . . . . . . 0.0005 0.088 0.8535 Name\x3d97.078458 1 4 186423655 PDLIM3 G A 24 0.139177 0.1655 . MedGen:CN169374 not_specified Benign . . . 0.1599 . intronic . 0.156382 . . . . . . . . 0.1602 . 0 4 186423677 PDLIM3 G A 153 0.659545 0.8588 . . . . . . . 0.8497 . intronic . 0.76966 . . . . . . . . 0.8542 . 0 4 186425571 PDLIM3 A G 3 0.0369409 0.0126 . . . . . . . . . intronic . 0.0035575 . . Name\x3dOREG1725750|N/A|HNF4A|PAZAR,OREG1749494|N/A|HNF4A|PAZAR . . . . . . . 1 4 186425638 PDLIM3 C T 1 0.000199681 0.0003 2.167 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 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0002 nonsynonymous_SNV exonic . 9.7e-05 T . Name\x3dOREG1749494|N/A|HNF4A|PAZAR,OREG1842298|N/A|RB1|PAZAR,OREG1302906|N/A|CEBPA|PAZAR,OREG1725750|N/A|HNF4A|PAZAR,OREG1787830|N/A|RBL2|PAZAR . B T . . 0.0003 Name\x3d98.515990 7.5 4 186427686 PDLIM3 G A 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . . 4 4 186427735 PDLIM3 G A 5 0.00559105 0.0279 1.346 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 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0246 nonsynonymous_SNV exonic . 0.0175095 T . . . B D . . 0.0210 Name\x3d95.985870 1 4 186427841 PDLIM3 T C 154 0.764177 0.8605 . . . . . . . 0.8512 . intronic . 0.787085 . . . . . . . . 0.8549 . 0 4 186427871 PDLIM3 A G 57 0.197883 0.1237 . . . . . . . . . intronic . 0.0281885 . . . . . . . . . . 0 4 186435435 PDLIM3 C T 1 0.000599042 0.0023 . 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 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified Benign . . . 0.0029 synonymous_SNV exonic . 0.00174 . . Name\x3dOREG1598303|N/A|FOXA1|PAZAR,OREG1656640|N/A|FOXA1|PAZAR,OREG1190569|N/A|TFAP2C|PAZAR . . . . . 0.0020 Name\x3d97.389337 4 4 186435563 PDLIM3 A G 1 0.000199681 0.0002 . . . . . . . . . intronic . 0.0002305 . . Name\x3dOREG1656640|N/A|FOXA1|PAZAR,OREG1598303|N/A|FOXA1|PAZAR . . . . . . . 5 4 186444698 PDLIM3 A C 160 0.719249 0.8747 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 4 186446257 PDLIM3 G A 2 0.00259585 0.0098 . 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 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign . . . 0.0108 synonymous_SNV exonic . 0.0078201 . . . . . . . . 0.0099 Name\x3d97.508747 1 4 186446365 PDLIM3 G A 1 0.000399361 0.0001 . . . . . . . 0.0002 . intronic . 0.0002587 . . . . . . . . 0.0001 . 4 4 186456617 PDLIM3 A G 214 0.948283 0.9998 . . . . Name\x3dENSR00000177061|Promoter . . 0.9997 . UTR5 . 0.0052781 . . . . . . . . 0.9993 . 1 5 218381 SDHA T TC 20 0.247005 0.1123 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208 Pheochromocytoma|Leigh_syndrome|Mitochondrial_complex_II_deficiency Likely_benign Name\x3dENSR00000177383|Promoter . . . . UTR5 . 0.025972 . . Name\x3dOREG1184337|N/A|TFAP2C|PAZAR,OREG1479573|N/A|E2F4|PAZAR,OREG1265680|N/A|SMARCA4|PAZAR,OREG1505826|N/A|EGR1|PAZAR,OREG1849817|N/A|RB1|PAZAR . . . . . . Name\x3d98.808005 3 5 218598 SDHA G A 100 0.329872 0.4997 . . . . Name\x3dENSR00000177383|Promoter . . . . intronic . 0.403489 . . Name\x3dOREG1184337|N/A|TFAP2C|PAZAR,OREG1265680|N/A|SMARCA4|PAZAR,OREG1505826|N/A|EGR1|PAZAR . . . . . . Name\x3d98.862887 3 5 223646 SDHA A T 8 0.0185703 0.0453 0.820 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 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified|not_provided Benign/Likely_benign . . . 0.0436 nonsynonymous_SNV exonic . 0.0349931 T . . . B T . . 0.0456 Name\x3d98.927148 2.5 5 224418 SDHA T G 20 0.247404 0.1130 . . . . . . . . . intronic . 0.0229816 . . . . . . . . . . 1 5 224633 SDHA A G 20 0.240016 0.1125 . 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1258 synonymous_SNV exonic . 0.149092 . . . . . . . . 0.1294 Name\x3d99.433347 2 5 224684 SDHA G A 2 0.00439297 0.0047 . . . . . . . 0.0038 . intronic . 0.0042043 . . . . . . . . 0.0057 . 2 5 224692 SDHA G T 20 0.244209 0.1128 . . . . . . . . . intronic . 0.0289065 . . . . . . . . . . 1 5 225515 SDHA G T 1 0.00139776 0.0041 . MedGen:C3279992,OMIM:614165|MedGen:CN169374 Paragangliomas_5|not_specified Likely_benign . . . 0.0033 . intronic . 0.0018564 . . . . . . . . 0.0026 Name\x3d98.769861 3 5 225709 SDHA G A 1 0.113019 0.0021 . . . . . . . 0.0032 . intronic . 0.0307564 . . . . . . . . 0.0034 Name\x3d96.985478 3 5 225941 SDHA C T 40 0.307907 0.2578 . . . . . . . . . intronic . 0.0506656 . . . . . . . . . Name\x3d97.806467 2 5 226160 SDHA A C 20 0.247404 0.1126 . 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1286 synonymous_SNV exonic . 0.154228 . . . . . . 0.0001 . 0.1359 Name\x3d99.261354 2 5 226222 SDHA T C 20 0.247404 0.1128 . . . . . . . . . intronic . 0.0307435 . . . . . . . . . . 1 5 228278 SDHA CT C 20 0.234625 0.1119 . MedGen:CN169374 not_specified Benign . . . 0.1274 . intronic . 0.0003752 . . . . . . . . 0.1308 Name\x3d96.209094 1 5 228362 SDHA T C 20 0.247404 0.1130 . 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1282 synonymous_SNV exonic . 0.152249 . . . . . . . . 0.1360 Name\x3d99.311559 2 5 230942 SDHA G C 3 0.000998403 . . . . . . . . . . intronic . 0.0001035 . . . . . . . . . Name\x3d97.527022 7 5 230943 SDHA T C 3 0.000998403 . . . . . . . . . . intronic . 0.0001229 . . . . . . . . . Name\x3d97.527022 7 5 230980 SDHA A G 167 0.858427 0.8849 . 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 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign . . . 0.8853 . intronic . 0.0002975 . . . . . . . . 0.8817 Name\x3d97.455746 3 5 231042 SDHA C T 1 0.00998403 0.0025 . 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 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign . . . 0.0036 synonymous_SNV exonic . 0.0045407 . . . . . . . . 0.0036 Name\x3d98.877112 3 5 231111 SDHA T C 140 0.653355 0.7581 . 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.7582 synonymous_SNV exonic . 0.693354 . . . . . . . . 0.7582 Name\x3d99.521608 3 5 231143 SDHA T C 20 0.247404 0.1130 . . . . . . . 0.1281 . intronic . 0.152702 . . . . . . . . 0.1356 Name\x3d97.132462 2 5 233560 SDHA G A 1 0.114018 0.0021 . . . . . . . 0.0032 . intronic . 0.0313515 . . . . . . . . 0.0035 . 2 5 233572 SDHA A G 20 0.247204 0.1128 . MedGen:CN169374 not_specified Benign . . . 0.1284 . intronic . 0.153931 . . . . . . . . 0.1364 . 1 5 233698 SDHA G A 2 0.000399361 0.0010 . MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Likely_benign . . . 0.0012 synonymous_SNV exonic . 0.0008215 . . . . . . . . 0.0012 Name\x3d99.202933 3 5 233734 SDHA C G 20 0.257788 0.1123 . 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1290 synonymous_SNV exonic . 0.157113 . . . . . . . . 0.1373 Name\x3d99.378984 2 5 235345 SDHA C G 2 0.000399361 . 12.451 MedGen:C0027672,SNOMED_CT:699346009 Hereditary_cancer-predisposing_syndrome Pathogenic . . . 3.684e-05 stopgain exonic . 2.59e-05 . . . . . . . . . Name\x3d99.398012 13 5 235364 SDHA C T 1 0.113618 0.0021 . 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 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign . . . 0.0032 synonymous_SNV exonic . 0.0312415 . . . . . . . . 0.0035 Name\x3d99.272564 3 5 235416 SDHA T C 1 0.000199681 . 6.036 . . . . . . 1.844e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.452563 11 5 236482 SDHA A G 2 0.00219649 . . . . . . . . . . intronic . 0.0004226 . . . . . . . . . . 2 5 236587 SDHA G T 3 0.0151757 0.0199 . 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 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign . . . 0.0242 synonymous_SNV exonic . 0.0176582 . . . . . . . . 0.0208 Name\x3d99.137033 1 5 236695 SDHA C T 1 0.000798722 0.0019 . MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign . . . 0.0033 synonymous_SNV exonic . 0.001934 . . . . . . . . 0.0036 Name\x3d99.192125 3 5 236753 SDHA C T 20 0.246805 0.1111 . . . . . . . 0.1259 . intronic . 0.138763 . . . . . . . . 0.1336 . 1 5 236760 SDHA C A 22 0.2498 0.1182 . . . . . . . 0.1356 . intronic . 0.143219 . . . . . . . . 0.1403 . 1 5 240663 SDHA A T 20 0.247604 0.1125 . . . . . . . . . intronic . 0.0205883 . . . . . . . . . . 1 5 251055 SDHA G A 1 0.00239617 0.0131 . . . . . . . . . intronic . 0.0011643 . . . . . . . . 0.0083 Name\x3d95.178484 1 5 251178 SDHA G A 4 0.00199681 0.0016 . MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign . . . 0.0030 synonymous_SNV exonic . 0.0019922 . . . . . . . . 0.0028 Name\x3d99.035141 7 5 251207 SDHA C T 1 0.000399361 . 3.930 MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5 Uncertain_significance . . . 1.841e-05 nonsynonymous_SNV exonic . 4.53e-05 D . . . P D . . . Name\x3d98.958665 8 5 251419 SDHA C T 20 0.248203 0.1121 . . . . . . . 0.1198 . intronic . 0.118194 . . . . . . . . . Name\x3d97.297854 1 5 251469 SDHA G A 20 0.248403 0.1123 . 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1291 synonymous_SNV exonic . 0.136589 . . . . . . . . . Name\x3d99.239810 1 5 251526 SDHA C T 1 0.000199681 . . MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Likely_benign . . . 5.557e-05 synonymous_SNV exonic . 4.53e-05 . . . . . . . . . Name\x3d99.421960 5 5 251541 SDHA A G 20 0.248403 0.1128 . 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1281 synonymous_SNV exonic . 0.0006145 . . . . . . . . 0.1357 Name\x3d99.431633 2 5 254442 SDHA C T 214 0.973442 0.9998 . . . . . . . 0.9997 . intronic . 0.323974 . . Name\x3dOREG1196537|N/A|TFAP2C|PAZAR . . . . . . . 1 5 254636 SDHA C T 17 0.0355431 0.1168 . 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 Pheochromocytoma|Leigh_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign . . . 0.1189 . intronic . 0.0075096 . . Name\x3dOREG1196537|N/A|TFAP2C|PAZAR . . . . . . Name\x3d95.090341 2 5 256422 SDHA A T 1 0.000399361 0.0003 . . . . . . . 0.0002 . intronic . 0.0001229 . . . . . . . . 0.0001 Name\x3d95.750638 5 5 256472 SDHA G A 53 0.335264 0.1223 . 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1420 synonymous_SNV exonic . 0.166518 . . . . . . . . 0.1436 Name\x3d99.240301 2 5 256509 SDHA G A 19 0.175319 0.1079 0.913 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1213 nonsynonymous_SNV exonic . 0.126143 T . . . B T . . 0.1299 Name\x3d98.946319 3.5 5 37294473 NUP155 T C 68 0.277157 0.2890 . . . . . . . 0.3083 synonymous_SNV exonic . 0.28281 . . . . . . . . 0.2929 Name\x3d99.288645 1 5 37298896 NUP155 C T 1 0.000199681 6.483e-05 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 5 37307389 NUP155 T C 5 0.0589058 0.0492 . . . . . . . 0.0420 . intronic . 0.0483823 . . . . . . . . 0.0406 Name\x3d96.994926 1 5 37309371 NUP155 TAGA T 67 0.269169 0.2863 . . . . . . . 0.3048 . intronic . 0.0083375 . . . . . . . . 0.2911 Name\x3d96.956893 1 5 37314287 NUP155 T TA 1 0.000599042 0.0023 . . . . . . . 0.0028 . intronic . 0.0001488 . . . . . . . . 0.0019 . 2 5 37318029 NUP155 T C 1 0.000199681 0.0001 . . . . . . . . . intronic . 1.29e-05 . . . . . . . . . Name\x3d95.791170 5 5 37325919 NUP155 A C 5 0.0423323 0.0477 . . . . . . . . . intronic . 0.0080788 . . . . . . . . . . 0 5 37325940 NUP155 T C 26 0.147963 0.1649 . . . . . . . . . intronic . 0.0292881 . . . . . . . . 0.1479 . 0 5 37327832 NUP155 G A 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d98.738026 5 5 37328643 NUP155 T C 1 0.000599042 0.0018 . . . . . . . . . intronic . 0.0001746 . . . . . . . . . . 2 5 37331795 NUP155 A G 1 0.00159744 0.0051 . . . . . . . 0.0070 synonymous_SNV exonic . 0.0045342 . . . . . . . . 0.0069 Name\x3d98.333359 3 5 37333727 NUP155 A G 29 0.355032 0.1689 . . . . . . Name\x3dMIMAT0000272|hsa-miR-215-5p|Experimental,MIMAT0003393|hsa-miR-425-5p|Experimental 0.1698 synonymous_SNV exonic . 0.221685 . . . . . . . . 0.1599 Name\x3d99.118516 2 5 37337942 NUP155 T C 1 0.000199681 . 2.170 . . . . . Name\x3dMIMAT0000256|hsa-miR-181a-5p|Experimental 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d98.711293 7.5 5 37341352 NUP155 T C 50 0.188698 0.2135 . . . . . . . 0.2127 . intronic . 0.203574 . . . . . . 0.0001 0.002 0.2115 Name\x3d98.829204 1 5 37350390 NUP155 C A 28 0.33766 0.1692 . . . . . . . 0.1654 . intronic . 0.215948 . . . . . . . . 0.1597 . 0 5 37351270 NUP155 C A 1 0.000798722 0.0023 . . . . . . . 0.0015 . intronic . 0.00163 . . . . . . . . . . 2 5 37352816 NUP155 C T 1 0.000798722 0.0002 . . . . . . . 0.0001 . intronic . 0.000207 . . . . . . . . 0.0002 . 2 5 37352829 NUP155 G A 2 0.0656949 0.0032 . . . . . . . 0.0038 . intronic . 0.021882 . . . . . . . . 0.0041 . 0 5 37364133 NUP155 CTTT C 1 0.0169728 0.0003 . . . . . . . 0.0002 . intronic . 0.0001552 . . . . . . . . 0.0005 . 0 5 37364443 NUP155 C T 214 0.969649 0.9999 . . . . . . . 1.0000 synonymous_SNV exonic . 0.947614 . . . . . . . . 0.9999 Name\x3d99.426196 1 5 37371059 NUP155 G A 4 0.0071885 0.0100 . . . . Name\x3dENSR00000179619|Promoter . . 0.0103 synonymous_SNV exonic . 0.0087903 . . Name\x3dOREG1898549|N/A|STAT1|PAZAR,OREG1236977|N/A|SMARCA4|PAZAR,OREG1786159|N/A|RBL2|PAZAR,OREG1792151|N/A|RBL2|PAZAR,OREG1841146|N/A|RB1|PAZAR,OREG1862360|N/A|SPI1|PAZAR,OREG1821245|N/A|RBL2|PAZAR,OREG1805811|N/A|RBL2|PAZAR,OREG1551289|N/A|ETS1|PAZAR,OREG1851033|N/A|RB1|PAZAR,OREG1846798|N/A|RB1|PAZAR . . . . . 0.0085 Name\x3d99.249928 3 5 155756623 SGCD G T 1 0.000199681 0.0025 . . . . . . . 0.0026 . intronic . 0.0003493 . . . . . . . . 0.0020 . 2 5 155771458 SGCD G T 1 0.00119808 0.0106 . . . . . . . 0.0138 . intronic . 0.0084928 . . . . . . . . 0.0128 Name\x3d99.400906 1 5 155771579 SGCD T C 100 0.485423 0.4324 . MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign . . . 0.4358 synonymous_SNV exonic . 0.453118 . . . . . . . . 0.4316 Name\x3d99.799992 1 5 155935708 SGCD G A 9 0.0189696 0.0577 7.006 MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0641 nonsynonymous_SNV exonic . 0.0441327 T . . . P T . . 0.0642 Name\x3d99.317093 1 5 155935720 SGCD T C 3 0.00279553 0.0089 . 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 Cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 0.0086 . intronic . 0.006216 . . . . . . 0.0001 . 0.0091 Name\x3d99.569232 7 5 156022101 SGCD G A 1 0.000399361 0.0006 . . . . . . . 0.0003 . intronic . 0.0006662 . . . . . . . . 0.0002 . 2 5 156074654 SGCD TAAATTGA T 186 0.89996 0.8855 . . . . Name\x3dENSR00000774931|Enhancer . . . . intronic . 0.0004226 . . Name\x3dOREG1656508|N/A|FOXA1|PAZAR . . . . . . . 2 5 172659511 na C A 71 0.255591 0.3627 . MedGen:CN169374 not_specified Benign . . . . . UTR3 . 0.0632786 . . Name\x3dOREG1497667|N/A|EGR1|PAZAR . . . . . . Name\x3d99.326052 0 5 172660004 na C T 4 0.00479233 0.0060 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|MedGen:C3276096,OMIM:108900|MedGen:CN169374|MedGen:CN230736 Atrial_septal_defect|Atrial_septal_defect_7_with_or_without_atrioventricular_conduction_defects|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0103 synonymous_SNV exonic . 0.0067722 . . Name\x3dOREG1497667|N/A|EGR1|PAZAR . . . . . 0.0077 Name\x3d99.955476 0 5 172660099 na C T 1 0.000199681 . 6.295 MedGen:CN230736 Cardiovascular_phenotype Uncertain_significance . . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1497667|N/A|EGR1|PAZAR . P D . . . Name\x3d99.954493 7 5 172660523 na T A 98 0.610623 0.2944 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000778148|Promoter . . 0.3978 . intronic . 0.0002393 . . . . . . . . . . -1 5 172660527 na T A 85 0.403355 0.4262 . . . . Name\x3dENSR00000778148|Promoter . . 0.3689 . intronic . 0.0001035 . . . . . . . . . . -1 5 172661690 na C T 1 0.00519169 0.0178 . . . . Name\x3dENSR00000778148|Promoter . . . . intronic . 0.0054557 . . Name\x3dOREG1497668|N/A|EGR1|PAZAR . . . . . . Name\x3d99.722202 1 5 172661843 na A T 1 0.000199681 6.491e-05 1.130 . . . Name\x3dENSR00000778148|Promoter . . 4.083e-05 nonsynonymous_SNV exonic . 1.94e-05 T . Name\x3dOREG1497668|N/A|EGR1|PAZAR . B T . . . Name\x3d99.950030 6.5 5 172662024 na T C 60 0.535743 0.2933 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000778148|Promoter . . 0.3030 synonymous_SNV exonic . 0.0015847 . . Name\x3dOREG1497668|N/A|EGR1|PAZAR . . . . . 0.2813 Name\x3d99.951883 1 6 7542148 DSP C CA 23 0.199681 0.1430 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000192801|Promoter . Name\x3dMIMAT0004776|hsa-miR-505-5p|Experimental 0.1680 . UTR5 . 0.0053233 . . . . . . . . 0.1456 Name\x3d99.934522 3 6 7542236 DSP G A 1 0.00219649 0.0016 -2.115 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011663,MedGen:C2063326|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000192801|Promoter . . 0.0034 nonsynonymous_SNV exonic . 0.0014812 T . . . B T . . 0.0019 Name\x3d99.934048 5.5 6 7542253 DSP G A 3 0.00339457 0.0050 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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 Cardiomyopathy|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 Benign/Likely_benign Name\x3dENSR00000192801|Promoter . . 0.0164 synonymous_SNV exonic . 0.0050452 . . . . . . . . 0.0087 Name\x3d99.944163 2 6 7542274 DSP T C 15 0.0609026 0.0535 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000192801|Promoter . . 0.1182 synonymous_SNV exonic . 0.0413449 . . . . . . . . 0.0524 Name\x3d99.927953 2 6 7556063 DSP C T 6 0.0125799 0.0338 . 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 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 Benign/Likely_benign . . . 0.0371 . intronic . 0.023719 . . . . . . . . 0.0378 Name\x3d97.662519 1 6 7558318 DSP T C 59 0.15615 0.2280 . MedGen:CN169374 not_specified Benign . . . 0.2353 . intronic . 0.195897 . . Name\x3dOREG1605381|N/A|FOXA1|PAZAR,OREG1663620|N/A|FOXA1|PAZAR . . . . . 0.2349 Name\x3d98.908118 2 6 7563982 DSP C T 1 0.000199681 . 2.649 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . D D . . . Name\x3d99.831270 8 6 7563983 DSP T G 214 1 0.9992 . MedGen:CN169374 not_specified Likely_benign . . . 0.9985 synonymous_SNV exonic . 0.964399 . . . . . . . . 0.9981 Name\x3d99.831270 1 6 7564139 DSP C G 60 0.345647 0.2847 . . . . . . . . . intronic . 0.0593524 . . . . . . . . . . 0 6 7565627 DSP G T 1 0.000199681 . 2.456 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B D . . . Name\x3d99.896415 5 6 7565727 DSP A T 10 0.0183706 0.0389 5.980 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0386 nonsynonymous_SNV exonic . 0.0303877 D . . . D D . . 0.0419 Name\x3d99.907885 7 6 7565801 DSP C G 1 0.000199681 . . . . . . . . 1.844e-05 . intronic . 1.29e-05 . . . . . . . . . . 4 6 7566745 DSP G GA 4 0.0239617 0.0009 . . . . . . . 0.0776 . intronic . 0.0002846 . . . . . . . . 0.0299 Name\x3d97.223129 1 6 7567970 DSP C T 166 0.772764 0.7559 . MedGen:CN169374 not_specified Benign . . . 0.7653 . intronic . 0.75272 . . . . . . . . 0.7752 . 0 6 7569353 DSP T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 6 7571874 DSP G A 167 0.819688 0.7604 . . . . . . . . . intronic . 0.150134 . . . . . . . . . Name\x3d97.423943 1 6 7572026 DSP T A 92 0.508986 0.4026 . MedGen:CN169374 not_specified Benign . . . 0.4082 . intronic . 0.442459 . . . . . . . . 0.4183 . 0 6 7572262 DSP A G 167 0.774361 0.76 . MedGen:CN169374 not_specified Benign . . . 0.7690 synonymous_SNV exonic . 0.750851 . . . . . . . . 0.7795 Name\x3d99.831281 1 6 7574536 DSP T C 4 0.140974 0.0083 . . . . . . . 0.0123 . intronic . 0.0680586 . . . . . . . . 0.0104 Name\x3d96.085969 1 6 7574852 DSP T C 15 0.0638978 0.0532 . . . . . . . 0.0544 . intronic . 0.0523991 . . . . . . . . 0.0577 Name\x3d99.336561 1 6 7576527 DSP G A 170 0.735423 0.7828 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign . . . 0.7990 synonymous_SNV exonic . 0.76891 . . . . . . 0.0001 0.03 0.8024 Name\x3d99.670850 1 6 7577260 DSP C T 50 0.27516 0.2310 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign . . . 0.2189 synonymous_SNV exonic . 0.238263 . . Name\x3dOREG1934472|N/A|TAL1|PAZAR . . . . . 0.2159 Name\x3d99.933623 2 6 7577354 DSP C A 141 0.69389 0.6020 . . . . . . . . . intronic . 0.123064 . . Name\x3dOREG1934472|N/A|TAL1|PAZAR . . . . . . Name\x3d96.351438 2 6 7578189 DSP G A 62 0.279353 0.3079 . . . . . . . . . intronic . 0.296219 . . . . . . . . . Name\x3d97.980652 1 6 7578819 DSP T G 170 0.740016 0.7803 . MedGen:CN169374 not_specified Benign . . . 0.7987 . intronic . 0.75261 . . . . . . . . 0.8023 Name\x3d99.050066 1 6 7578823 DSP G A 170 0.764377 0.7818 . MedGen:CN169374 not_specified Benign . . . 0.7991 . intronic . 0.004573 . . . . . . . . 0.8030 Name\x3d97.850793 1 6 7579705 DSP G C 1 0.000199681 . 5.683 . . . . . . 3.683e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . P D . . . Name\x3d99.930087 8 6 7580285 DSP A C 1 0.000399361 6.486e-05 0.765 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:CN517202 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|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000782355|TF_binding_site,ENSR00000192808|Promoter . . 0.0004 nonsynonymous_SNV exonic . 0.0002975 D . Name\x3dOREG1934472|N/A|TAL1|PAZAR . D T . . 0.0001 Name\x3d99.952498 10 6 7580346 DSP G C 1 0.000199681 . 4.219 . . . Name\x3dENSR00000782355|TF_binding_site,ENSR00000192808|Promoter . . 3.699e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . P D . . . Name\x3d99.910344 6 6 7580386 DSP G A 3 0.00579073 0.0168 . 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 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 Benign/Likely_benign Name\x3dENSR00000782355|TF_binding_site . . 0.0199 synonymous_SNV exonic . 0.0135186 . . . . . . . . 0.0149 Name\x3d99.955118 2 6 7580935 DSP C T 1 0.000199681 . . . . . . . . 1.842e-05 synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1663621|N/A|FOXA1|PAZAR,OREG1685201|N/A|GATA3|PAZAR . . . . . . Name\x3d99.855564 6 6 7580958 DSP A G 8 0.203275 0.0386 0.670 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign . . . 0.0457 nonsynonymous_SNV exonic . 0.109785 T . Name\x3dOREG1663621|N/A|FOXA1|PAZAR,OREG1685201|N/A|GATA3|PAZAR . P T . . 0.0442 Name\x3d99.927395 3.5 6 7581001 DSP C A 1 0.0511182 0.0003 -0.527 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 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 Benign . . . 0.0005 nonsynonymous_SNV exonic . 0.0130723 T . Name\x3dOREG1685201|N/A|GATA3|PAZAR,OREG1663621|N/A|FOXA1|PAZAR . B T . . 0.0007 Name\x3d99.907499 3.5 6 7581196 DSP G A 2 0.0071885 0.0169 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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 Cardiomyopathy|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 Benign/Likely_benign . . . 0.0198 synonymous_SNV exonic . 0.013635 . . Name\x3dOREG1663621|N/A|FOXA1|PAZAR . . . . . 0.0174 Name\x3d99.942304 2 6 7581636 DSP G A 33 0.240415 0.1256 0.509 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.1221 nonsynonymous_SNV exonic . 0.167656 T . Name\x3dOREG1308513|N/A|CEBPA|PAZAR . B T . . 0.1257 Name\x3d99.874629 3.5 6 7581641 DSP G A 1 0.000399361 0.0010 0.993 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0002076,MedGen:C3887485,OMIM:157300,SNOMED_CT:37796009|Human_Phenotype_Ontology:HP:0002301,MedGen:C0018991|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:CN517202 Primary_dilated_cardiomyopathy|Migraine|Hemiplegia|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|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0012872 T . Name\x3dOREG1308513|N/A|CEBPA|PAZAR . D D . . 0.0013 Name\x3d99.893308 7 6 7582993 DSP A T 6 0.00399361 0.0148 6.311 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:CN517202 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|not_provided Conflicting_interpretations_of_pathogenicity . . Name\x3dMIMAT0000076|hsa-miR-21-5p|Experimental 0.0142 nonsynonymous_SNV exonic . 0.0092431 T . . . D D . . 0.0130 Name\x3d99.955679 5 6 7583885 DSP T C 3 0.00658946 0.0126 . 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 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 Benign/Likely_benign . . . 0.0123 synonymous_SNV exonic . 0.0102909 . . . . . . . . 0.0136 Name\x3d99.934046 1 6 7583946 DSP C T 1 0.000199681 . 6.649 MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma Uncertain_significance . . . . nonsynonymous_SNV exonic . 7.12e-05 D . . . D D . . . Name\x3d99.943048 11 6 7584617 DSP C T 83 0.211661 0.3326 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign . . . 0.3558 synonymous_SNV exonic . 0.289957 . . . . . . . . 0.3690 Name\x3d99.934879 1 6 7584876 DSP C T 1 0.000199681 . 5.363 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.943321 11 6 7585670 DSP C A 9 0.0239617 0.0611 . 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 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 Benign/Likely_benign . . Name\x3dMIMAT0000415|hsa-let-7i-5p|Experimental,MIMAT0000096|hsa-miR-98-5p|Experimental,MIMAT0000064|hsa-let-7c-5p|Experimental 0.0680 synonymous_SNV exonic . 0.0466618 . . Name\x3dOREG0600254|N/A|ELF1|JASPAR . . . . . 0.0633 Name\x3d99.921658 3 6 7585967 DSP G C 153 0.709465 0.6834 . 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:C4014393,OMIM:615821|MedGen:CN169374|MedGen:CN230736 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|Cardiomyopathy,_dilated,_with_woolly_hair,_keratoderma,_and_tooth_agenesis|not_specified|Cardiovascular_phenotype Benign . . . 0.7106 synonymous_SNV exonic . 0.139468 . . . . . . . . 0.7173 Name\x3d99.911143 1 6 7586120 DSP T A 2 0.00319489 0.0071 . 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:CN517202 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|not_provided Benign/Likely_benign . . Name\x3dMIMAT0000451|hsa-miR-150-5p|Experimental 0.0071 . UTR3 . 0.0055821 . . . . . . . . 0.0109 Name\x3d99.702399 2 6 26087649 LOC108783645 G A 1 0.000199681 . . . . . Name\x3dENSR00000786464|Promoter . . 0.0001 . ncRNA_exonic . 5.82e-05 . . Name\x3dOREG1253332|N/A|SMARCA4|PAZAR,OREG1491899|N/A|EGR1|PAZAR,OREG1798393|N/A|RBL2|PAZAR . . . . . 0.0002 Name\x3d99.351223 5 6 26087856 LOC108783645 T A 71 0.39377 0.4142 . . . . Name\x3dENSR00000786464|Promoter . . . . ncRNA_exonic . 0.397994 . . Name\x3dOREG1491899|N/A|EGR1|PAZAR,OREG1253332|N/A|SMARCA4|PAZAR,OREG1798393|N/A|RBL2|PAZAR . . . . . . Name\x3d99.260303 3 6 26091047 LOC108783645 A G 1 0.000199681 0.0003 . . . . . . . 0.0001 . ncRNA_exonic . 0.0002264 . . . . . . . . 0.0002 Name\x3d97.355485 3 6 26091179 HFE C G 38 0.0730831 0.1452 4.570 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3469186,OMIM:235200|MedGen:CN517202 Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_provided Pathogenic,_other,_risk_factor . . . 0.1334 nonsynonymous_SNV exonic rs1799945|Systolic-blood-pressure|0.627|8E-10|PMID:28739976 0.109171 D . . . B D . . 0.1513 Name\x3d99.738438 2 6 26091185 HFE A T 1 0.00399361 0.0137 4.972 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200 Hereditary_hemochromatosis|Hemochromatosis_type_1 Uncertain_significance . . . 0.0146 nonsynonymous_SNV exonic . 0.0102263 D . . . D D . . 0.0151 Name\x3d99.765894 2 6 26091309 HFE T C 1 0.000199681 . 3.831 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D T . . . Name\x3d99.757263 6 6 26091336 HFE T C 75 0.426717 0.3210 . MedGen:C0392514,SNOMED_CT:35400008|MedGen:CN169374 Hereditary_hemochromatosis|not_specified Benign/Likely_benign . . . 0.3174 . intronic rs2071303|Number-of-sexual-partners|0.013890003|2E-8|PMID:30643258 0.363973 . . . . . . . 0.014 0.3356 Name\x3d99.669660 -1 6 26092865 HFE C G 1 0.0425319 0.0013 . . . . . . . 0.0017 . intronic . 0.0127359 . . . . . . . . 0.0007 Name\x3d99.349569 -1 6 26093125 HFE G A 1 0.00179712 0.0003 5.999 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200|MedGen:CN517202 Hereditary_hemochromatosis|Hemochromatosis_type_1|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0006 nonsynonymous_SNV exonic . 0.0032859 T . . . D D . . 0.0007 Name\x3d99.712262 4 6 26093141 HFE G A 6 0.0125799 0.0595 5.270 .|.|.|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 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 Conflicting_interpretations_of_pathogenicity,_association,_other,_risk_factor . . . 0.0504 nonsynonymous_SNV exonic rs1800562|Cholesterol,-total|0.056|2E-12|PMID:24097068 0.0349737 D . . . D D . . 0.0641 Name\x3d99.809052 6 6 26093236 HFE G A 16 0.13139 0.1255 . . HFE_INTRONIC_POLYMORPHISM Benign . . . 0.1288 . intronic . 0.129895 . . . . . . . . 0.1291 Name\x3d98.119702 -1 6 26093297 HFE G A 1 0.00319489 0.0110 . . . . . . . 0.0102 . intronic . 0.006727 . . . . . . . . 0.0083 Name\x3d96.191714 -1 6 26093303 HFE T C 13 0.21865 0.0653 . . . . . . . 0.0694 . intronic . 0.137831 . . . . . . . . 0.0628 Name\x3d96.397956 -1 6 26094346 HFE G A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d96.229116 3 6 26094367 HFE G A 91 0.590655 0.4531 . . . . . . . 0.4518 . intronic . 0.504263 . . . . . . . . 0.4708 Name\x3d95.797290 -1 6 26094515 HFE C T 1 0.0091853 0.0004 . . . . . . . . . UTR3 . 0.0004722 . . . . . . . . . . 0 6 76538403 MYO6 G A 110 0.687899 0.5244 . . . . . . . . . intronic . 0.111072 . . . . . . . . . . 0 6 76540088 MYO6 A G 1 0.000199681 0.0002 . . . . . . . 0.0002 . intronic . 0.0001682 . . . . . . . . . . 4 6 76545684 MYO6 T C 33 0.102636 0.1481 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign . . . 0.1494 . intronic . 0.0008344 . . . . . . . . 0.1521 Name\x3d97.846450 1 6 76550237 MYO6 A G 33 0.102835 0.1476 . . . . . . . . . intronic . 0.0248897 . . . . . . . . . . 0 6 76554593 MYO6 G A 209 0.997804 0.9875 . . . . . . . 0.9845 . intronic . 0.0003234 . . . . . . . . 0.9868 Name\x3d96.069541 1 6 76558200 MYO6 G A 1 0.000199681 0.0004 3.506 MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0003 nonsynonymous_SNV exonic . 0.0002911 T . . . D T . . 0.0002 Name\x3d99.377391 5 6 76558260 MYO6 A AT 7 0.139577 0.0577 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign . . . 0.0587 . intronic . 0.0002005 . . . . . . . . 0.0583 Name\x3d96.410949 1 6 76564953 MYO6 A G 2 0.0265575 0.0147 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign Name\x3dENSR00000796121|TF_binding_site . . 0.0139 synonymous_SNV exonic . 0.0164552 . . . . . . . . 0.0130 Name\x3d99.559899 2 6 76566810 MYO6 A G 3 0.00199681 0.0038 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0031 . intronic . 0.0023286 . . . . . . . 0.002 0.0042 . 6 6 76572240 MYO6 T G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 6 76572389 MYO6 A G 1 0.000199681 . . . . . . . . 1.842e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.270533 5 6 76576290 MYO6 C T 14 0.0289537 0.0593 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439|MedGen:CN517202 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive|not_provided Benign/Likely_benign . . . 0.0627 synonymous_SNV exonic . 0.0509178 . . . . . . . . 0.0609 Name\x3d99.138922 1 6 76595634 MYO6 C A 33 0.1252 0.1481 . . . . . . . . . intronic . 0.0258664 . . . . . . . . . Name\x3d96.128717 1 6 76596728 MYO6 C T 71 0.147764 0.3233 . MedGen:CN169374 not_specified Benign . . . 0.3198 . intronic . 0.251691 . . . . . . . . 0.3349 . 2 6 76599787 MYO6 C T 1 0.000399361 0.0001 3.313 MedGen:CN239435|MedGen:CN239439 Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Uncertain_significance . . . 3.689e-05 nonsynonymous_SNV exonic . 0.0001423 D . . . D D . . 0.0001 Name\x3d99.077154 8 6 76607983 MYO6 T A 84 0.348842 0.3908 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 1 6 76608251 MYO6 T C 1 0.00139776 0.0013 . . . . . . . . . intronic . 0.0002717 . . . . . . . . . Name\x3d97.332260 3 6 76617511 MYO6 A ATGTGTGTG 53 0.138778 0.3128 . . . . . . . . . intronic . 0.0001537 . . Name\x3dOREG1603746|N/A|FOXA1|PAZAR . . . . . . . 1 6 76618299 MYO6 A G 1 0.000199681 6.482e-05 2.531 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 8.41e-05 T . . . B T . . 0.0001 Name\x3d99.596500 6.5 6 76624538 MYO6 G A 5 0.00559105 0.0091 7.271 MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign . . . 0.0145 nonsynonymous_SNV exonic . 0.0094953 D . . . D D . . 0.0130 Name\x3d99.624047 7 6 76624741 MYO6 C T 71 0.146965 0.3223 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign . . Name\x3dMIMAT0000430|hsa-miR-138-5p|Experimental 0.3597 . UTR3 . 0.249841 . . . . . . . . 0.3343 Name\x3d97.069782 4 6 112430850 LAMA4 C T 2 0.0463259 . . . . . Name\x3dENSR00001114943|Enhancer . . . . intronic . 0.0107192 . . . . . . . . . Name\x3d98.554391 2 6 112435264 LAMA4 T G 55 0.240016 0.2617 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.2671 . intronic . 0.241316 . . . . . . . . 0.2706 Name\x3d98.367788 1 6 112435273 LAMA4 A C 55 0.240016 0.2620 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.2671 . intronic . 0.241323 . . . . . . 0.0001 0.028 0.2716 Name\x3d99.277984 1 6 112435335 LAMA4 G A 1 0.000599042 . 7.024 MedGen:CN169374 not_specified Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0003687 D . . . D D . . . Name\x3d99.359547 9 6 112435444 LAMA4 G GAAT 55 0.240815 0.2639 . . . . . . . 0.2655 . intronic . 0.0071603 . . . . . . . . 0.2699 Name\x3d96.804649 1 6 112435796 LAMA4 G C 56 0.240815 0.2680 . . . . . . . . . intronic . 0.0498441 . . . . . . . . . . 0 6 112435807 LAMA4 G T 56 0.227236 0.2680 . . . . . . . . . intronic . 0.0493525 . . . . . . . . . Name\x3d95.406150 1 6 112435912 LAMA4 A T 59 0.281749 0.2854 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.2908 synonymous_SNV exonic . 0.268043 . . . . . . . . 0.2894 Name\x3d99.275632 1 6 112438912 LAMA4 GA G 31 0.229233 0.2038 . . . . . . . 0.1778 . intronic . 0.0059055 . . Name\x3dOREG0743312|N/A|JUNB|JASPAR,OREG0770517|N/A|JUND|JASPAR,OREG0642785|N/A|FOS|JASPAR . . . . . 0.1688 Name\x3d99.088779 2 6 112439071 LAMA4 G C 1 0.00139776 . 3.989 . . . . . . 3.754e-05 nonsynonymous_SNV exonic . 4.53e-05 T . . . D T . . . Name\x3d99.581503 3 6 112440311 LAMA4 C G 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d95.923160 5 6 112440380 LAMA4 T C 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.306844 5 6 112440464 LAMA4 G A 2 0.0666933 0.0007 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0013 synonymous_SNV exonic . 0.0197734 . . . . . . . . 0.0020 Name\x3d99.380826 1 6 112441727 LAMA4 A C 1 0.000199681 . . . . . . . . 2.304e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.469218 5 6 112451012 LAMA4 A AT 1 0.00579073 0.0033 . . . . . . . . . intronic . 0.0008837 . . . . . . . . . Name\x3d98.847505 3 6 112457383 LAMA4 G C 55 0.210463 0.2529 4.097 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.2549 nonsynonymous_SNV exonic . 0.222753 T . . . D T . . 0.2603 Name\x3d99.345281 1 6 112457390 LAMA4 C T 142 0.839856 0.7201 2.280 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.7013 nonsynonymous_SNV exonic . 0.713031 T . . . B T . . 0.6965 Name\x3d99.345281 2.5 6 112457471 LAMA4 G A 142 0.840455 0.7195 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.7012 . intronic . 0.725036 . . . . . . . . 0.6959 Name\x3d96.986079 1 6 112460365 LAMA4 C T 1 0.00359425 0.0136 8.015 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0137 nonsynonymous_SNV exonic . 0.0099158 D . . . D D . . 0.0130 Name\x3d99.767722 7 6 112460511 LAMA4 C T 1 0.00159744 0.0003 . MedGen:CN169374 not_specified Likely_benign . . . 0.0003 . intronic . 0.000608 . . . . . . . . 0.0006 Name\x3d98.702303 3 6 112460541 LAMA4 G A 60 0.300519 0.2592 . . . . . . . 0.2625 . intronic . 0.255223 . . . . . . . . 0.27 Name\x3d99.040131 2 6 112461135 LAMA4 C T 1 0.000798722 0.0019 . . . . . . . 0.0020 . intronic . 0.0016235 . . . . . . . . 0.0023 . 2 6 112463253 LAMA4 T G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d98.913721 5 6 112463419 LAMA4 C T 1 0.000199681 0.0001 1.299 MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0002 nonsynonymous_SNV exonic . 7.76e-05 T . . . B T . . 0.0002 Name\x3d99.626879 6.5 6 112463545 LAMA4 G A 1 0.000798722 0.0005 . . . . . . . 0.0004 . intronic . 0.0003816 . . . . . . . . 0.0001 . 2 6 112466086 LAMA4 C T 1 0.000798722 . . MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 1.842e-05 synonymous_SNV exonic . 0.0002199 . . . . . . . . . Name\x3d99.265517 3 6 112469480 LAMA4 C T 1 0.000199681 0.0002 . MedGen:C3808935,OMIM:615235 Dilated_cardiomyopathy_1JJ Likely_benign . . . 9.204e-05 synonymous_SNV exonic . 6.47e-05 . . . . . . . . . Name\x3d99.514261 5 6 112471688 LAMA4 G C 64 0.3127 0.2636 . . . . . . . 0.2703 . intronic . 0.266303 . . Name\x3dOREG1790553|N/A|RBL2|PAZAR . . . . . 0.2797 Name\x3d99.042535 3 6 112476210 LAMA4 T C 63 0.3127 0.2644 . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d95.535879 2 6 112480041 LAMA4 A G 22 0.091254 0.1284 . MedGen:CN169374 not_specified Benign . . . 0.0979 synonymous_SNV exonic . 0.100413 . . . . . . . . 0.0881 Name\x3d99.214315 1 6 112486397 LAMA4 G A 2 0.000798722 0.0030 4.719 MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype|not_provided Likely_benign . . . 0.0022 nonsynonymous_SNV exonic . 0.0015782 T . . . D T . . 0.0023 Name\x3d98.968811 3 6 112493774 LAMA4 C T 2 0.00139776 0.0040 . . . . . . . 0.0040 . intronic . 0.0029301 . . . . . . . . 0.0053 . 2 6 112493790 LAMA4 T C 2 0.000399361 0.0007 . . . . . . . 0.0008 . intronic . 0.0003752 . . . . . . . . 0.0007 Name\x3d97.068222 3 6 112493872 LAMA4 A G 140 0.758387 0.6042 -0.041 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign Name\x3dENSR00000802030|Enhancer . . 0.5987 nonsynonymous_SNV exonic . 0.657656 T . . . B T . . 0.6020 Name\x3d99.462924 3.5 6 112496511 LAMA4 C A 6 0.08127 0.0108 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0155 . intronic . 0.0308728 . . . . . . . 0.002 0.0110 Name\x3d99.590685 1 6 112496690 LAMA4 G C 2 0.0315495 0.0005 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0005 . intronic . 0.009353 . . . . . . 0.0035 0.076 0.0005 Name\x3d99.698308 1 6 112499245 LAMA4 G A 2 0.0329473 0.0005 . . . . . . . . . intronic . 0.011065 . . . . . . . . . Name\x3d98.891877 1 6 112506375 LAMA4 G A 111 0.416933 0.4530 . . . . . . . . . intronic . 0.0901023 . . . . . . . . . Name\x3d98.726170 1 6 112506583 LAMA4 G T 168 0.900559 0.7044 . . . . . . . 0.7126 . intronic . 0.769654 . . . . . . . . 0.7115 . 0 6 112508745 LAMA4 G A 1 0.000199681 0.0003 . MedGen:CN169374 not_specified Likely_benign . . . 0.0003 synonymous_SNV exonic . 0.0001423 . . . . . . . . 0.0005 Name\x3d99.039803 3 6 112508769 LAMA4 T G 214 1 1 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 1 synonymous_SNV exonic . 0.911056 . . . . . . . . . Name\x3d99.206740 1 6 112508770 LAMA4 G T 214 1 1 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 1 nonsynonymous_SNV exonic . 0.91046 . . . . . . . . . Name\x3d99.206740 2.5 6 112512905 LAMA4 G A 28 0.316893 0.1515 . MedGen:CN169374 not_specified Benign . . . 0.1337 synonymous_SNV exonic . 0.191201 . . Name\x3dOREG1309126|N/A|CEBPA|PAZAR . . . . . 0.1219 Name\x3d99.475759 2 6 112522852 LAMA4 G A 14 0.0309505 0.0645 7.272 MedGen:CN169374 not_specified Benign . . . 0.0603 nonsynonymous_SNV exonic . 0.0517975 T . . . D D . . 0.0649 Name\x3d99.323231 4 6 112522893 LAMA4 A C 3 0.0207668 0.0102 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0151 . intronic . 0.012917 . . . . . . 0.0005 0.044 0.0103 Name\x3d98.473566 1 6 112528149 LAMA4 AAAACA AAAACAAAACAAAACG,A 3 . . . . . . . . . . . intronic . . . . . . . . . . . Name\x3d96.329973 11 6 112537497 LAMA4 A G 92 0.489417 0.3344 . . . . . . . . . intronic . 0.0711181 . . . . . . . . . Name\x3d97.880294 1 6 112537682 LAMA4 A G 9 0.0121805 0.0215 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0260 . intronic . 0.0188613 . . . . . . 0.0091 0.142 0.0195 Name\x3d97.230869 1 6 112574962 LOC101927640 C T 1 0.000199681 . . . . . Name\x3dENSR00000201313|Promoter . . 1.842e-05 . ncRNA_intronic . 1.29e-05 . . . . . . . . . Name\x3d99.130178 4 6 112575203 LAMA4 C T 2 0.000399361 0.0001 . MedGen:C3808935,OMIM:615235 Dilated_cardiomyopathy_1JJ Likely_benign Name\x3dENSR00000201313|Promoter . . 0.0001 synonymous_SNV exonic . 4.53e-05 . . . . . . . . . Name\x3d99.836769 6 6 118880029 PLN C T 1 0.000599042 0.0008 . . . . . . . . . UTR5 . 0.00073 . Name\x3dOREG0070927|N/A|N/A|VistaEnhancers . . . . . . . . 3 6 121768710 GJA1 G A 4 0.034345 0.0156 . Human_Phenotype_Ontology:HP:0001159,MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:C4551854,OMIM:241550|MedGen:CN169374 Syndactyly|Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|Hypoplastic_left_heart_syndrome_1|not_specified Benign/Likely_benign . . . 0.0123 synonymous_SNV exonic . 0.0190166 . . . . . . . . 0.0148 Name\x3d99.946027 -1 6 121768751 GJA1 C T 4 0.00299521 0.0120 0.820 MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:CN169374 Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|not_specified Benign/Likely_benign . . . 0.0121 nonsynonymous_SNV exonic . 0.0085186 T . . . B T . . 0.0160 Name\x3d99.895947 0.5 6 121769144 GJA1 T TA 3 0.0579073 0.0520 . Human_Phenotype_Ontology:HP:0001159,MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:C4551854,OMIM:241550|MedGen:CN169374 Syndactyly|Oculodentodigital_dysplasia|Hypoplastic_left_heart_syndrome_1|not_specified Benign . . Name\x3dMIMAT0000416|hsa-miR-1-3p|Experimental 0.0441 . UTR3 . 0.0028331 . . . . . . . . 0.0471 Name\x3d99.797641 0 6 123539684 TRDN C T 174 0.761182 0.7906 . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Benign . . . . . UTR3 . 0.0374981 . . . . . . . . . Name\x3d97.644000 -1 6 123539685 TRDN T C 106 0.465256 0.4554 . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Benign . . . . . UTR3 . 0.0474573 . . . . . . . . . Name\x3d97.644000 -1 6 123539904 TRDN C T 106 0.375998 0.4524 . MedGen:CN169374 not_specified Benign . . . 0.5017 . intronic . 0.0027361 . . . . . . . . 0.4593 . -2 6 123542784 TRDN C A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 6 123545159 TRDN GA G 110 0.50639 0.4790 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 6 123580660 TRDN C T 119 0.335264 0.5102 . . . . . . . . . intronic . 0.471608 . . . . . . . . . . -2 6 123580675 TRDN C T 40 0.319888 0.1894 . . . . . . . . . intronic . 0.218227 . . . . . . . . . . -2 6 123581843 TRDN T A 1 0.00279553 . . . . . . . . . . intronic . 0.0005379 . . . . . . . . . . 0 6 123588810 TRDN A G 1 0.00239617 0.0040 . . . . . . . 0.0061 . intronic . 0.0020698 . . . . . . . . 0.0037 . 0 6 123591138 TRDN T A 40 0.324481 0.1890 . . . . . . . . . intronic . 0.0413578 . . . . . . . . . Name\x3d97.014060 -1 6 123594217 TRDN G A 5 0.00219649 0.0055 . . . . . . . . . intronic . 0.003381 . . . . . . . . . . 8 6 123594426 TRDN G A 1 0.00119808 0.0038 . . . . . . . . . intronic . 0.000401 . . . . . . . . . . 0 6 123594510 TRDN T TA 40 0.262979 0.1884 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.2173 . splicing . 0.0025097 . . . . . . . . 0.1584 Name\x3d98.750889 7 6 123594634 TRDN G T 1 0.000399361 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 2 6 123595869 TRDN A C 40 0.263179 0.1886 . . . . . . . . . intronic . 0.0054941 . . . . . . . . 0.1708 . -2 6 123599505 TRDN A C 2 0.00279553 0.0077 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0175 . intronic . 0.0025032 . . . . . . . . 0.0092 Name\x3d98.417645 -1 6 123600184 TRDN G A 1 0.000199681 0.0003 . MedGen:CN169374 not_specified Likely_benign . . . 0.0002 . intronic . 0.00011 . . . . . . . . 0.0001 Name\x3d99.105353 3 6 123600356 TRDN T A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 6 123653127 TRDN A G 1 0.000798722 0.0053 . . . . . . . . . intronic . 0.0007244 . . . . . . . . 0.0047 . 0 6 123658671 TRDN T C 58 0.222843 0.3058 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 6 123658680 TRDN A G 104 0.305511 0.4198 . . . . . . . . . intronic . 0.0001921 . . . . . . . . . . -2 6 123658825 TRDN G T 40 0.29373 0.1880 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign . . . 0.2001 . intronic . 0.0758722 . . . . . . 0.0022 0.212 0.1503 Name\x3d98.733696 -1 6 123673628 TRDN C T 11 0.00898562 0.0474 . . . . . . . 0.0408 . UTR3 . 0.0264874 . . . . . . . . 0.0399 Name\x3d99.804325 -1 6 123673672 TRDN A AT 1 0.00179712 0.0004 . MedGen:CN169374 not_specified Uncertain_significance . . . 0.0002 stoploss exonic . 0.0002652 . . . . . . . . 0.0006 Name\x3d99.832957 9 6 123687288 TRDN A C 202 0.939297 0.9148 0.489 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign . . . 0.9100 nonsynonymous_SNV exonic . 0.0001811 T . . . B T . . 0.9156 Name\x3d99.593905 0.5 6 123687318 TRDN C T 1 0.000399361 0.0001 2.244 . . . . . . 3.761e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . B T . . . Name\x3d99.504067 4.5 6 123687432 TRDN T C 202 0.954473 0.9147 . . . . . . . . . intronic . 0.177637 . . . . . . . . . Name\x3d99.236441 -1 6 123696766 TRDN G T 32 0.147364 0.1292 0.783 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1469 nonsynonymous_SNV exonic . 0.0677352 T . . . B T . . 0.1188 Name\x3d99.738983 1.5 6 123698748 TRDN A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 6 123699019 TRDN A C 23 0.169129 0.1681 2.548 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1874 nonsynonymous_SNV exonic . 0.133937 T . . . B D . . 0.1454 Name\x3d99.591453 0 6 123699042 TRDN T C 91 0.272165 0.3632 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4458 synonymous_SNV exonic . 0.244874 . . . . . . 0.0023 0.126 0.3635 Name\x3d99.594866 -1 6 123702499 TRDN G A 64 0.476238 0.3621 . MedGen:CN169374 not_specified Benign . . . 0.3762 . intronic . 0.0020116 . . . . . . . . 0.3270 Name\x3d99.329527 0 6 123702587 TRDN G A 1 0.00199681 0.0095 . . . . . . . . . intronic . 0.0018057 . . . . . . . . 0.0026 Name\x3d98.331548 1 6 123702642 TRDN T G 32 0.120807 0.1304 . . . . . . . . . intronic . 0.124635 . . . . . . . . . Name\x3d97.262537 0 6 123703168 TRDN C T 32 0.120807 0.1298 . . . . . . . . . intronic . 0.123982 . . . . . . . . . . -2 6 123714764 TRDN C T 13 0.0163738 0.0476 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0916 . intronic . 0.0323023 . . Name\x3dOREG1637760|N/A|FOXA1|PAZAR,OREG1579122|N/A|FOXA1|PAZAR . . . 0.4824 0.506 0.0483 Name\x3d99.795319 0 6 123714938 TRDN C T 1 0.00399361 . . . . . . . . . . intronic . 0.0013447 . . Name\x3dOREG1637760|N/A|FOXA1|PAZAR,OREG1579122|N/A|FOXA1|PAZAR . . . . . . . 1 6 123818365 TRDN T C 1 0.000199681 . 0.195 MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Uncertain_significance . . . . nonsynonymous_SNV exonic . 2.59e-05 T . . . B D . . . Name\x3d99.874300 3 6 123833457 TRDN G C 178 0.843251 0.8670 -0.289 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign . . . 0.8257 nonsynonymous_SNV exonic . 0.793101 T . . . B T . . 0.8615 Name\x3d99.390978 0.5 6 123837214 TRDN C A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 6 123837416 TRDN G A 2 0.00279553 6.492e-05 . . . . . . . . . intronic . 0.00073 . . . . . . . . . . 0 6 123851590 TRDN G A 133 0.497804 0.6421 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 6 123851610 TRDN G A 133 0.497404 0.6413 . . . . . . . 0.5937 . intronic . 0.0002458 . . . . . . . . . . -2 6 123851757 TRDN A C 1 0.000199681 . . . . . . . . 0.0003 . intronic . 1.29e-05 . . . . . . . . . . 2 6 123868506 TRDN C T 4 0.00279553 0.0138 4.510 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign . . . 0.0102 nonsynonymous_SNV exonic . 0.0042043 T . . . P D . . 0.0099 Name\x3d99.440747 -1 6 123869607 TRDN G C 114 0.392971 0.5248 -0.436 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign . . . 0.5689 nonsynonymous_SNV exonic . 0.421152 T . . . B T . . 0.5375 Name\x3d99.257118 0.5 6 123869615 TRDN G A 1 0.000399361 0.0004 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0003 synonymous_SNV exonic . 0.0001035 . . . . . . . . 0.0002 Name\x3d99.293686 3 6 123869769 TRDN TAA T 123 0.500599 0.5587 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign . . . 0.5416 . intronic . 0.0001423 . . . . . . . . . Name\x3d97.931712,99.435288 -1 6 123892001 TRDN G A 78 0.495807 0.3950 . . . . . . . . . intronic . 0.0840998 . . . . . . . . . . -2 6 123892044 TRDN A G 23 0.0467252 0.0785 . . . . . . . 0.0948 . intronic . 0.068285 . . . . . . . . 0.0938 Name\x3d95.413899 -1 6 123892337 TRDN G A 90 0.24361 0.3335 . . . . . . . . . intronic . 0.0606331 . . . . . . . . . Name\x3d95.708252 -1 6 123957876 TRDN C T 1 0.000199681 6.49e-05 . . . . Name\x3dENSR00000803992|Promoter . . 9.247e-05 . intronic . 8.41e-05 . . . . . . . . . Name\x3d99.261590 4 6 129371106 LAMA2 C T 40 0.0706869 0.1153 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.1245 synonymous_SNV exonic . 0.0988668 . . . . . . . . 0.1164 Name\x3d99.611828 -1 6 129381026 LAMA2 C A 208 0.936701 0.9718 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign . . . 0.9708 synonymous_SNV exonic . 0.948435 . . . . . . . . 0.9699 Name\x3d99.531499 -1 6 129419454 LAMA2 C T 1 0.000399361 6.481e-05 4.755 MedGen:CN117977 Laminin_alpha_2-related_dystrophy Uncertain_significance . . . 9.201e-05 nonsynonymous_SNV exonic . 9.06e-05 T . . . D D . . . Name\x3d99.118695 6 6 129419609 LAMA2 G A 1 0.00159744 0.0053 . . . . . . . 0.0044 . intronic . 0.0031242 . . . . . . . . 0.0066 Name\x3d98.491023 1 6 129465020 LAMA2 G A 34 0.247404 0.1892 . MedGen:CN169374 not_specified Benign . . . 0.2016 . intronic . 0.193853 . . . . . . . . 0.1932 Name\x3d97.177285 -1 6 129468288 LAMA2 A T 34 0.352236 0.1915 . . . . Name\x3dENSR00000804985|Enhancer . . . . intronic . 0.0452129 . . . . . . . . . Name\x3d99.371025 0 6 129486657 LAMA2 C A 1 0.00219649 0.0092 . . . . . . . . . intronic . 0.0014877 . . . . . . . . . Name\x3d96.748327 1 6 129486815 LAMA2 G A 1 0.000199681 . 0.655 . . . . . . 0.0001 nonsynonymous_SNV exonic . 5.82e-05 T . . . B T . . . Name\x3d99.346840 4.5 6 129511373 LAMA2 T C 4 0.0565096 0.0089 . MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.0136 synonymous_SNV exonic . 0.0302325 . . . . . . . . 0.0112 Name\x3d99.329573 -1 6 129513850 LAMA2 T A 1 0.00159744 0.0053 5.154 MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|not_provided Benign/Likely_benign . . . 0.0044 nonsynonymous_SNV exonic . 0.0030401 T . . . D D . . 0.0070 Name\x3d99.459134 4 6 129514008 LAMA2 C T 1 0.000199681 0.0045 . MedGen:CN239326|MedGen:CN517202 Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided Uncertain_significance . . . 0.0011 . intronic . 0.0005627 . . . . . . . . 0.0005 Name\x3d98.738623 1 6 129571330 LAMA2 G A 27 0.270966 0.1374 -0.271 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign . . . 0.1350 nonsynonymous_SNV exonic . 0.177811 T . . . B T . . 0.14 Name\x3d99.000114 0.5 6 129601231 LAMA2 C T 1 0.00319489 0.0075 5.122 MedGen:CN117977|MedGen:CN169374|MedGen:CN239326|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0066 nonsynonymous_SNV exonic . 0.0048318 T . . . B D . . 0.0064 Name\x3d99.479070 4 6 129609026 LAMA2 C T 1 0.000199681 . 6.647 . . . . . . . nonsynonymous_SNV exonic . 1.29e-05 T . . . P D . . . Name\x3d99.670692 6 6 129609237 LAMA2 T C 1 0.0341454 0.0007 . MedGen:CN169374 not_specified Benign . . . 0.0006 . intronic . 0.0104397 . . . . . . . . 0.0008 Name\x3d99.569901 -1 6 129612765 LAMA2 G T 1 0.0463259 0.0008 2.558 MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.0008 nonsynonymous_SNV exonic . 0.0136674 T . . . B T . . 0.0010 Name\x3d99.252063 0.5 6 129612808 LAMA2 A G 48 0.313898 0.2221 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign . . . 0.2248 synonymous_SNV exonic . 0.260501 . . . . . . . . 0.2272 Name\x3d98.828695 -1 6 129618791 LAMA2 T C 4 0.00359425 0.0154 . MedGen:CN169374 not_specified Likely_benign . . . 0.0176 . intronic . 0.0114682 . . . . . . . . 0.0156 Name\x3d95.776306 -1 6 129618905 LAMA2 G A 1 0.000199681 0.0003 6.101 MedGen:CN169374 not_specified Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 8.41e-05 T . . . D T . . . Name\x3d99.389640 6 6 129619059 LAMA2 G A 13 0.182508 0.0770 . MedGen:CN169374 not_specified Benign . . . 0.0835 . intronic . 0.117004 . . . . . . . . 0.0769 . -2 6 129621840 LAMA2 T A 1 0.000199681 . . . . . . . . 1.841e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 6 129622055 LAMA2 A G 111 0.303714 0.4491 . MedGen:CN169374 not_specified Benign . . . 0.4659 . intronic . 0.393805 . . . . . . . . 0.4524 . -2 6 129633970 LAMA2 TTG T 14 0.170128 0.0771 . MedGen:CN169374 not_specified Benign Name\x3dENSR00001116158|Enhancer . . 0.0828 . intronic . 0.0039715 . . Name\x3dOREG1899960|N/A|STAT1|PAZAR . . . . . 0.0774 Name\x3d96.404549 1 6 129634255 LAMA2 G A 20 0.355232 0.1175 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign Name\x3dENSR00001116158|Enhancer . . 0.1212 . intronic . 0.205748 . . Name\x3dOREG1899960|N/A|STAT1|PAZAR . . . . . 0.1241 Name\x3d96.711048 1 6 129635800 LAMA2 G A 7 0.120008 0.0396 2.722 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.0408 nonsynonymous_SNV exonic . 0.066047 T . . . B T 0.0857 0.288 0.0469 Name\x3d99.447159 0.5 6 129636606 LAMA2 T G 1 0.0081869 0.0054 . MedGen:CN169374|MedGen:CN239326 not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Conflicting_interpretations_of_pathogenicity . . . 0.0091 . intronic . 0.0085381 . . . . . . . . 0.005 Name\x3d96.614197 1 6 129637037 LAMA2 G A 1 0.000199681 . 4.218 . . . . . . 3.681e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d99.708442 4.5 6 129663463 LAMA2 ACTT A 6 0.00579073 0.0147 . MedGen:CN517202 not_provided Uncertain_significance . . . 0.0122 . intronic . 0.0002329 . . . . . . . . 0.0143 Name\x3d96.910643 -1 6 129670438 LAMA2 T A 1 0.00279553 0.0080 . MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|not_provided Benign/Likely_benign . . . 0.0084 . intronic . 0.0059249 . . . . . . 0.8827 0.572 0.0098 Name\x3d99.367174 1.5 6 129670476 LAMA2 C T 1 0.00299521 0.0078 . MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Benign . . . 0.0082 synonymous_SNV exonic . 0.0056856 . . . . . . . . 0.0095 Name\x3d99.368198 1 6 129670493 LAMA2 C T 3 0.00279553 0.0027 5.746 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN257926,OMIM:618138|MedGen:CN517202 Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|MUSCULAR_DYSTROPHY,_LIMB-GIRDLE,_AUTOSOMAL_RECESSIVE_23|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0052 nonsynonymous_SNV exonic . 0.0032018 T . . . D D . . 0.0044 Name\x3d99.554363 8 6 129670548 LAMA2 C T 13 0.0970447 0.0545 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374 Merosin_deficient_congenital_muscular_dystrophy|not_specified Benign . . . 0.0639 . intronic . 0.0816872 . . . . . . . . 0.0613 . -2 6 129674561 LAMA2 TC T 13 0.116813 0.0526 . . . . Name\x3dENSR00001116164|Enhancer . . . . intronic . 0.0188259 . . . . . . . . . Name\x3d99.094876 0 6 129687396 LAMA2 G A 4 0.0101837 0.0282 2.753 MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Benign . . . 0.0280 nonsynonymous_SNV exonic . 0.020362 T . . . B T . . 0.0330 Name\x3d99.820159 0.5 6 129691132 LAMA2 C G 13 0.0966454 0.0543 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.0637 synonymous_SNV exonic . 0.0823793 . . . . . . . . 0.0615 Name\x3d99.647413 -1 6 129704460 LAMA2 C G 1 0.000399361 6.483e-05 . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d99.257030 3 6 129722389 LAMA2 A G 99 0.544529 0.4537 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign . . . 0.4667 synonymous_SNV exonic . 0.489541 . . . . . . . . 0.4653 Name\x3d99.315909 -1 6 129722425 LAMA2 G A 99 0.543331 0.4510 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign . . . 0.4642 synonymous_SNV exonic . 0.487141 . . . . . . . . 0.4641 Name\x3d99.426074 -1 6 129722453 LAMA2 C A 1 0.00499201 0.0160 2.879 Human_Phenotype_Ontology:HP:0002126,MedGen:C0266464,Orphanet:ORPHA35981|MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Polymicrogyria|Laminin_alpha_2-related_dystrophy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0171 nonsynonymous_SNV exonic . 0.0113582 T . . . B T . . 0.0171 Name\x3d99.446649 0.5 6 129722481 LAMA2 T G 1 0.000199681 0.0002 3.035 MedGen:CN117977|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|Congenital_Muscular_Dystrophy,_LAMA2-related Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0001488 T . . . P D . . 0.0005 Name\x3d99.459482 1 6 129724942 LAMA2 T A 96 0.539936 0.4418 . MedGen:CN169374 not_specified Benign . . . 0.4540 . intronic . 0.418009 . . . . . . . . 0.1772 Name\x3d97.015877 -1 6 129724944 LAMA2 C T 96 0.540735 0.4418 . . . . . . . 0.4542 . intronic . 0.417866 . . . . . . . . 0.0005 Name\x3d97.015877 -1 6 129724945 LAMA2 T G 96 0.540735 0.4417 . . . . . . . 0.4541 . intronic . 0.417866 . . . . . . . . 0.0049 Name\x3d97.015877 -1 6 129748836 LAMA2 G A 3 0.00359425 0.0100 . . . . . . . . . intronic . 0.0014359 . . . . . . . . . . 4 6 129749070 LAMA2 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d95.839996 3 6 129759802 LAMA2 C A 1 0.000199681 . 0.259 . . . . . . 5.545e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . B T . . 0.0001 Name\x3d99.364494 4.5 6 129762036 LAMA2 A G 3 0.00119808 0.0010 -0.014 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0012 nonsynonymous_SNV exonic . 0.0008279 T . . . B T . . 0.0014 Name\x3d99.488683 6.5 6 129762062 LAMA2 G A 1 0.000399361 . 2.360 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . P T . . . Name\x3d99.541478 4.5 6 129762112 LAMA2 G A 30 0.182508 0.1696 . MedGen:CN169374|MedGen:CN239326 not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.1516 synonymous_SNV exonic . 0.1658 . . . . . . . . 0.1457 Name\x3d99.406276 -1 6 129763248 LAMA2 G T 1 0.000199681 6.491e-05 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 6 129774077 LAMA2 C T 2 0.000399361 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d98.863054 3 6 129775470 LAMA2 T C 28 0.172324 0.1348 . MedGen:CN169374 not_specified Benign . . . 0.1458 . intronic . 0.142049 . . . . . . . . 0.1206 Name\x3d99.001769 -1 6 129781525 LAMA2 A T 3 0.00658946 0.0155 . . . . Name\x3dENSR00000805051|Enhancer . . . . intronic . 0.002044 . . . . . . . . . Name\x3d97.174418 0 6 129785391 LAMA2 T C 123 0.660942 0.5723 . MedGen:CN169374 not_specified Benign . . . 0.5780 . intronic . 0.596532 . . . . . . . . 0.5763 . -2 6 129796620 LAMA2 C T 97 0.408347 0.3865 . . . . Name\x3dENSR00000805056|Enhancer . . . . intronic . 0.0780326 . . . . . . . . 0.4104 Name\x3d99.104293 0 6 129807629 LAMA2 C T 160 0.583866 0.7162 7.378 MedGen:CN169374 not_specified Benign Name\x3dENSR00000805058|Enhancer . . 0.7133 nonsynonymous_SNV exonic . 0.664092 D . Name\x3dOREG0456106|N/A|CEBPB|JASPAR . D T . . 0.7265 Name\x3d99.660625 4 6 129807697 LAMA2 G A 1 0.000199681 . 5.529 . . . Name\x3dENSR00000805058|Enhancer . . 3.684e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . D D . . 0.0001 Name\x3d99.569754 7 6 129807699 LAMA2 G C 160 0.584265 0.7163 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign Name\x3dENSR00000805058|Enhancer . . 0.7134 synonymous_SNV exonic . 0.665295 . . . . . . . . 0.7266 Name\x3d99.569754 0 6 129807714 LAMA2 G A 46 0.403754 0.2601 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign Name\x3dENSR00000805058|Enhancer . . 0.2617 synonymous_SNV exonic . 0.302066 . . . . . . . . 0.2488 Name\x3d99.554154 0 6 129813043 LAMA2 C T 1 0.000199681 . . . . . . . . 4.557e-05 . intronic . 3.88e-05 . . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . . . 0.0028 0.176 . Name\x3d99.338910 4 6 129813053 LAMA2 A G 10 0.111621 0.0675 2.164 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.0787 nonsynonymous_SNV exonic . 0.0845849 T . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . B D . . 0.0630 Name\x3d99.300311 0 6 129813175 LAMA2 T C 1 0.0185703 0.0123 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.0138 synonymous_SNV exonic . 0.0131628 . . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . . . . . 0.0130 Name\x3d99.421703 0 6 129813288 LAMA2 A G 1 0.000399361 . . . . . . . . . . intronic . 7.68e-05 . . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.370312 4 6 129813429 LAMA2 T TA 5 0.0129792 0.0264 . . . . . . . 0.0207 . intronic . 0.0007762 . . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . . . . . 0.0208 Name\x3d95.737858 0 6 129813697 LAMA2 G C 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . . . . . . Name\x3d95.062581 4 6 129823857 LAMA2 C T 1 0.000199681 0.0003 . MedGen:CN117977 Laminin_alpha_2-related_dystrophy Likely_benign . . . 0.0003 synonymous_SNV exonic . 0.0002135 . . Name\x3dOREG1269126|N/A|SMARCA4|PAZAR . . . . . 0.0003 Name\x3d99.688857 4 6 129826335 LAMA2 T C 1 0.00359425 0.0121 . MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|not_provided Benign/Likely_benign . . . 0.0135 . intronic . 0.0090167 . . Name\x3dOREG1269127|N/A|SMARCA4|PAZAR . . . 0.0004 0.018 0.0127 Name\x3d98.454078 0 6 129826383 LAMA2 T C 1 0.000798722 0.0005 . MedGen:CN117977|MedGen:CN169374|MedGen:CN239326|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0012 synonymous_SNV exonic . 0.0006598 . . Name\x3dOREG1269127|N/A|SMARCA4|PAZAR . . . . . 0.0006 Name\x3d99.487326 2 6 129826488 LAMA2 A G 1 0.0179712 0.0001 . MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.0001 synonymous_SNV exonic . 0.0047089 . . Name\x3dOREG1269127|N/A|SMARCA4|PAZAR . . . . . 0.0005 Name\x3d99.636526 0 6 129835530 LAMA2 G C 1 0.000399361 0.0001 3.224 MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0001164 T . . . D D . . 0.0001 Name\x3d99.675911 6 6 129835690 LAMA2 C A 1 0.000199681 0.0003 2.437 MedGen:CN117977 Laminin_alpha_2-related_dystrophy Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0001294 T . . . D T . . 0.0001 Name\x3d99.494444 3 6 129837320 LAMA2 C A 7 0.0091853 0.0333 . MedGen:CN169374 not_specified Benign . . . 0.0351 . intronic . 0.0241135 . . . . . . . . 0.0415 Name\x3d96.508025 -1 6 129837549 LAMA2 A C 1 0.0509185 0.0048 . MedGen:CN239326 Congenital_Muscular_Dystrophy,_LAMA2-related Likely_benign . . . . . UTR3 . 0.0034346 . . . . . . . . . Name\x3d98.609228 -1 6 133596051 EYA4 A G 1 0.000599042 . . . . . . . . . . intronic . 0.0001153 . . . . . . . . . Name\x3d98.960786 3 6 133703698 EYA4 T C 3 0.0922524 0.0015 . . . . . . . . . intronic . 0.0045342 . . . . . . . . . Name\x3d98.594508 1 6 133777690 EYA4 G A 2 0.000399361 6.482e-05 . . . . Name\x3dENSR00000805937|Enhancer . Name\x3dMIMAT0004490|hsa-miR-19a-5p|Experimental 5.521e-05 . intronic . 5.17e-05 . . . . . . . . . Name\x3d99.875193 7 6 133777842 EYA4 C G 1 0.000199681 . . . . . Name\x3dENSR00000805937|Enhancer . . . . intronic . 0.0001153 . . . . . . . . . Name\x3d99.147019 6 6 133782375 EYA4 T A 10 0.201278 0.0598 . . . . . . . . . intronic . 0.0211705 . . . . . . . . 0.0669 Name\x3d96.534516 1 6 133789728 EYA4 G A 73 0.409545 0.3118 5.411 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Benign/Likely_benign . . . 0.3193 nonsynonymous_SNV exonic . 0.339142 T . Name\x3dOREG1704507|N/A|GATA3|PAZAR . D T . . 0.3128 Name\x3d99.952146 5 6 133789737 EYA4 C A 1 0.000199681 . 6.665 . . . . . . 9.213e-05 nonsynonymous_SNV exonic . 3.88e-05 D . Name\x3dOREG1704507|N/A|GATA3|PAZAR . D D . . 0.0001 Name\x3d99.942966 12 6 133802542 EYA4 G A 23 0.0283546 0.0793 . . . . . . . . . intronic . 0.0134022 . . . . . . . . . Name\x3d99.702670 1 6 133802711 EYA4 T C 1 0.000199681 . 4.879 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . B D . . . Name\x3d99.950244 8 6 133827354 TARID A G 136 0.722244 0.5630 . . . . . . . 0.5657 . ncRNA_exonic . 0.610561 . . . . . . . . 0.5607 Name\x3d98.146255 -1 6 133833915 EYA4 A G 1 0.000199681 0.0003 . MedGen:CN239310|MedGen:CN239435 Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Uncertain_significance . . . 3.68e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . 0.0009 0.006 0.0001 Name\x3d99.959727 5 6 133836430 TARID G A 6 0.00539137 0.0146 . . . . . . . 0.0161 . ncRNA_intronic . 0.0122961 . . . . . . . . 0.0164 Name\x3d95.295710 -1 6 133844137 TARID C A 28 0.154752 0.1414 . . . . . . . . . ncRNA_intronic . 0.0290553 . . . . . . . . . Name\x3d98.454046 1 6 133844339 TARID G C 1 0.0373403 0.0006 . . . . . . . 0.0004 . ncRNA_intronic . 0.0114099 . . . . . . . . 0.0012 Name\x3d99.220735 -1 6 133849789 TARID A G 129 0.770367 0.5461 . . . . . . . . . ncRNA_intronic rs3822939|Estimated-glomerular-filtration-rate|0.0025|5E-23|PMID:31152163 0.117159 . . . . . . . . . Name\x3d97.737781 -1 6 133849868 EYA4 C T 4 0.0081869 0.0108 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Dilated_cardiomyopathy_1J|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0146 synonymous_SNV exonic . 0.0116751 . . . . . . . . 0.0128 Name\x3d99.960392 1 6 133849966 TARID C T 95 0.471046 0.3949 . MedGen:CN239310|MedGen:CN239435 Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Likely_benign . . . 0.3749 . ncRNA_intronic . 0.0021022 . . . . . . . . 0.3865 Name\x3d99.895395 -1 6 152443744 SYNE1 G T 25 0.076877 0.1616 4.671 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.1532 nonsynonymous_SNV exonic . 0.117728 T . . . D D . . 0.1398 Name\x3d99.824604 4 6 152443761 SYNE1 C T 6 0.0648962 0.0444 1.625 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.0392 nonsynonymous_SNV exonic . 0.0480007 T . . . B T . . 0.0335 Name\x3d99.664822 2.5 6 152453291 SYNE1 G A 15 0.0257588 0.0775 1.797 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.0732 nonsynonymous_SNV exonic . 0.0534857 T . . . B T . . 0.0745 Name\x3d99.069594 2.5 6 152456437 SYNE1 A C 1 0.00119808 . . . . . . . . . . intronic . 0.0002305 . . . . . . . . . . 2 6 152456438 SYNE1 A C 2 0.00599042 0.0136 . . . . . . . . . intronic . 0.0026326 . . . . . . . . . . 0 6 152457897 SYNE1 G A 1 0.000199681 . . MedGen:CN517202 not_provided Uncertain_significance . . . 3.683e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.383771 5 6 152461061 SYNE1 G A 99 0.444489 0.3635 . MedGen:CN169374 not_specified Benign . . . 0.3698 . intronic . 0.392032 . . . . . . . . 0.3941 Name\x3d99.006134 1 6 152461162 SYNE1 C T 1 0.000798722 0.0006 4.590 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:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0007 nonsynonymous_SNV exonic . 0.0006145 T . . . P T . . 0.0013 Name\x3d99.483013 4.5 6 152462480 SYNE1 C A 6 0.00559105 0.0059 . MedGen:CN169374 not_specified Benign . . . 0.0092 . intronic . 0.0074061 . . . . . . . . 0.0097 Name\x3d97.234411 11 6 152462524 SYNE1 C T 1 0.0303514 0.0001 . . . . . . . . . intronic . 0.0083372 . . . . . . . . . . 0 6 152464839 SYNE1 A G 123 0.689696 0.5460 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.5468 synonymous_SNV exonic . 0.602735 . . . . . . . . 0.5564 Name\x3d99.051753 1 6 152466578 SYNE1 A C 2 0.0567093 0.0087 . MedGen:CN169374 not_specified Likely_benign . . . 0.0064 . intronic . 0.0285766 . . . . . . . . 0.0051 Name\x3d98.368461 1 6 152466582 SYNE1 A G 79 0.381589 0.3173 . MedGen:CN169374 not_specified Benign . . . 0.3207 . intronic . 0.0015459 . . . . . . . . 0.3359 Name\x3d98.298421 1 6 152466674 SYNE1 T C 79 0.366214 0.3136 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.3142 synonymous_SNV exonic . 0.342117 . . . . . . . . 0.3301 Name\x3d99.036820 1 6 152469188 SYNE1 C G 81 0.399361 0.3186 0.755 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.3194 nonsynonymous_SNV exonic . 0.355202 T . . . P T . . 0.3373 Name\x3d99.285969 2.5 6 152469204 SYNE1 G A 2 0.00219649 0.0093 2.924 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Benign/Likely_benign . . Name\x3dMIMAT0000096|hsa-miR-98-5p|Experimental,MIMAT0000063|hsa-let-7b-5p|Experimental,MIMAT0000066|hsa-let-7e-5p|Experimental,MIMAT0000064|hsa-let-7c-5p|Experimental,MIMAT0000067|hsa-let-7f-5p|Experimental,MIMAT0000062|hsa-let-7a-5p|Experimental,MIMAT0000415|hsa-let-7i-5p|Experimental,MIMAT0000414|hsa-let-7g-5p|Experimental 0.0075 nonsynonymous_SNV exonic . 0.0050646 T . . . P D . . 0.0056 Name\x3d98.885134 4 6 152469331 SYNE1 C T 66 0.339457 0.2805 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.2729 synonymous_SNV exonic . 0.309795 . . . . . . . . 0.2944 Name\x3d99.461894 1 6 152469354 SYNE1 C T 1 0.000199681 6.487e-05 6.962 MedGen:CN517202 not_provided Uncertain_significance . . . 5.538e-05 nonsynonymous_SNV exonic . 4.53e-05 T . . . D D . . . Name\x3d99.622014 8 6 152469433 SYNE1 G C 1 0.000199681 0.0005 -1.526 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0011 nonsynonymous_SNV exonic . 0.0006598 T . . . B T . . 0.0006 Name\x3d99.429159 4.5 6 152470752 SYNE1 C A 22 0.115615 0.0438 2.796 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign . . . 0.0560 nonsynonymous_SNV exonic . 0.0668038 T . . . B T . . 0.0548 Name\x3d99.193134 2.5 6 152472631 MIR3163 A G 13 0.024361 0.0348 . . . . . . . . . ncRNA_intronic . 0.0068304 . . . . . . . . . Name\x3d97.811193 -1 6 152472660 MIR3163 T A 14 0.0317492 0.0379 . MedGen:CN169374 not_specified Benign . . . 0.0476 . ncRNA_intronic . 0.0381302 . . . . . . . . 0.0434 Name\x3d96.961588 -1 6 152473136 SYNE1 G T 1 0.000199681 . 5.447 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D D . . . Name\x3d99.725408 8 6 152473181 SYNE1 T C 14 0.0365415 0.0381 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0477 synonymous_SNV exonic . 0.039799 . . . . . . . . 0.0441 Name\x3d99.283014 1 6 152476985 MIR3163 T G 5 0.057508 . . . . . . . . . . ncRNA_intronic . 0.011065 . . . . . . . . . . -2 6 152497500 MIR3163 C T 12 0.0225639 0.0574 . MedGen:CN169374 not_specified Benign . . . 0.0589 . ncRNA_intronic . 0.039896 . . . . . . . . 0.0597 Name\x3d97.696224 -1 6 152501313 SYNE1 A G 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.103215 5 6 152510429 SYNE1 G A 1 0.00119808 0.0016 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Benign/Likely_benign . . . 0.0022 synonymous_SNV exonic . 0.0015588 . . . . . . . . 0.0023 Name\x3d98.940664 3 6 152510573 MIR3163 G A 1 0.0680911 0.0084 . . . . . . . 0.0104 . ncRNA_intronic . 0.0321406 . . . . . . . . 0.0085 . -2 6 152522926 MIR3163 G A 47 0.134585 0.1764 . MedGen:CN169374 not_specified Benign . . . 0.1720 . ncRNA_intronic . 0.14939 . . . . . . . . 0.1767 Name\x3d98.031737 -1 6 152523143 MIR3163 G A 141 0.645567 0.5840 . . . . . . . . . ncRNA_intronic . 0.0003842 . . . . . . . . . Name\x3d98.201005 -1 6 152529122 SYNE1 G A 3 0.00339457 0.0190 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0167 synonymous_SNV exonic . 0.0117851 . . Name\x3dOREG1636788|N/A|FOXA1|PAZAR,OREG1578107|N/A|FOXA1|PAZAR . . . . . 0.0177 Name\x3d99.448078 2 6 152529260 SYNE1 G A 29 0.155152 0.1217 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified|not_provided Benign . . . 0.1319 synonymous_SNV exonic . 0.140451 . . Name\x3dOREG1285696|N/A|CEBPA|PAZAR,OREG1636788|N/A|FOXA1|PAZAR,OREG1578107|N/A|FOXA1|PAZAR . . . . . 0.1341 Name\x3d99.640757 2 6 152532702 SYNE1 T C 4 0.00459265 0.0143 6.017 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0212 nonsynonymous_SNV exonic . 0.0133439 T . Name\x3dOREG0929036|N/A|MAFK|JASPAR . D T . . 0.0171 Name\x3d99.296241 5 6 152534768 SYNE1 C T 5 0.0205671 0.0273 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0334 synonymous_SNV exonic . 0.0249609 . . . . . . . . 0.0271 Name\x3d99.136858 1 6 152534789 SYNE1 T C 6 0.0135783 0.0423 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0358 synonymous_SNV exonic . 0.0245275 . . . . . . . . 0.0302 Name\x3d99.091516 1 6 152534946 MIR3163 T A 214 0.997005 0.9893 . . . . . . . 0.9904 . ncRNA_intronic . 0.0099934 . . . . . . . . 0.9890 . -2 6 152534947 MIR3163 T A 83 0.307508 0.4550 . . . . . . . . . ncRNA_intronic . 0.0625154 . . . . . . . . . . -2 6 152539350 MIR3163 C G 33 0.279153 0.2272 . MedGen:CN169374 not_specified Benign . . . 0.2197 . ncRNA_intronic . 0.244719 . . . . . . . . 0.2219 . -2 6 152539515 SYNE1 G A 1 0.000599042 0.0009 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0012 synonymous_SNV exonic . 0.0009056 . . . . . . . . 0.0019 Name\x3d98.901909 3 6 152539572 MIR3163 TA TAA,T 1 0.404952 0.4481 . . . . . . . 0.4534 . ncRNA_intronic . 0.0046183 . . . . . . . . . Name\x3d95.662064 -1 6 152540230 SYNE1 C T 1 0.000199681 0.0001 3.652 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 9.202e-05 nonsynonymous_SNV exonic . 0.0001035 T . Name\x3dOREG1636790|N/A|FOXA1|PAZAR,OREG1578108|N/A|FOXA1|PAZAR,OREG1172552|N/A|TFAP2C|PAZAR . D T . . 0.0001 Name\x3d98.478390 6 6 152540278 SYNE1 A C 211 0.995607 0.9889 -0.224 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign . . . 0.9886 nonsynonymous_SNV exonic . 0.982057 T . Name\x3dOREG1172552|N/A|TFAP2C|PAZAR,OREG1636790|N/A|FOXA1|PAZAR,OREG1578108|N/A|FOXA1|PAZAR . B T . . 0.9901 Name\x3d98.536829 3.5 6 152540357 MIR3163 T C 25 0.0696885 0.0810 . . . . . . . 0.0899 . ncRNA_intronic . 0.0882848 . . Name\x3dOREG1172552|N/A|TFAP2C|PAZAR,OREG1578108|N/A|FOXA1|PAZAR,OREG1636790|N/A|FOXA1|PAZAR . . . . . 0.0913 . -1 6 152542234 MIR3163 G T 62 0.389377 0.3161 . . . . . . . . . ncRNA_intronic . 0.066668 . . . . . . . . . Name\x3d95.176582 -1 6 152542548 MIR3163 A G 34 0.337859 0.2291 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.2225 . ncRNA_intronic . 0.271601 . . . . . . . . 0.2248 Name\x3d96.735379 -1 6 152545600 MIR3163 G A 5 0.00758786 0.0261 . . . . . . . 0.0258 . ncRNA_intronic . 0.0190101 . . . . . . . . 0.0241 Name\x3d95.009272 -1 6 152545865 MIR3163 T C 43 0.124002 0.1956 . . . . . . . . . ncRNA_intronic . 0.0030352 . . . . . . . . . . -2 6 152555057 SYNE1 T A 3 0.00978435 0.0255 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0267 synonymous_SNV exonic . 0.0200256 . . . . . . . . 0.0259 Name\x3d99.595730 1 6 152555112 SYNE1 C T 35 0.208866 0.2308 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.2230 . intronic . 0.229318 . . . . . . . . 0.2167 Name\x3d97.236054 1 6 152555762 SYNE1 C T 1 0.000599042 0.0010 . . . . . . . 0.0009 . intronic . 0.0004981 . . . . . . . . 0.0005 . 2 6 152557178 SYNE1 G C 1 0.000798722 0.0041 . . . . . . . . . intronic . 0.0004204 . . . . . . . . . . 2 6 152557220 SYNE1 T C 1 0.00239617 0.0098 . . . . . . . 0.0087 . intronic . 0.0061189 . . . . . . . . 0.0098 Name\x3d96.952310 3 6 152558111 SYNE1 T TA 35 0.210264 0.2302 . MedGen:CN169374 not_specified Likely_benign . . . 0.2218 . intronic . 0.0070568 . . . . . . . . 0.2170 Name\x3d96.440658 1 6 152563312 SYNE1 T C 4 0.00519169 0.0065 . . . . . . . . . intronic . 0.001009 . . . . . . . . . . 6 6 152565669 SYNE1 C T 2 0.00439297 0.0005 . 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 Cerebellar_ataxia|Abnormality_of_brain_morphology|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0008 . intronic . 0.0038745 . . . . . . . 0.056 0.0007 Name\x3d97.344315 3 6 152570274 SYNE1 A G 19 0.0607029 0.0688 . . . . . . . 0.0780 . intronic rs17215781|Heel-bone-mineral-density|0.029709|9E-14|PMID:30048462 0.077554 . . . . . . . . 0.0780 Name\x3d97.694021 1 6 152570415 SYNE1 G A 109 0.680711 0.6467 . MedGen:CN169374 not_specified Benign . . . 0.6227 . intronic . 0.639248 . . . . . . . . 0.6098 Name\x3d97.830414 1 6 152577752 SYNE1 T C 9 0.0764776 0.0502 . MedGen:CN169374 not_specified Benign . . . 0.0625 . intronic . 0.067677 . . . . . . . . 0.0598 . 0 6 152589378 SYNE1 A C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d98.270465 5 6 152590434 SYNE1 A G 1 0.000798722 0.0023 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Likely_benign . . . 0.0019 . intronic . 0.0012354 . . . . . . . . 0.0015 Name\x3d99.222423 3 6 152599173 SYNE1 C T 2 0.00439297 0.0075 . . . . Name\x3dENSR00001118515|TF_binding_site Name\x3dTEAD4::MAX|ENSPFM0566|ENSM00205113205|8.40808342725 . 0.0076 . intronic . 0.0062224 . . Name\x3dOREG1711525|N/A|HNF4A|PAZAR,OREG1736173|N/A|HNF4A|PAZAR . . . . . 0.0040 . 5 6 152603139 SYNE1 T C 11 0.0722843 0.0627 . MedGen:CN169374 not_specified Benign . . . 0.0655 . intronic . 0.0665774 . . . . . . . . 0.0645 . 0 6 152605242 SYNE1 C T 1 0.000199681 6.483e-05 . . . . . . . 3.681e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.309375 5 6 152614766 SYNE1 G C 1 0.000199681 . 1.546 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d99.122377 6.5 6 152615042 SYNE1 G T 5 0.0473243 0.0558 . . . . . . . . . intronic . 0.0104915 . . . . . . . . . Name\x3d97.819075 1 6 152615200 SYNE1 G A 41 0.147764 0.1926 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.1971 synonymous_SNV exonic . 0.184098 . . . . . . . . 0.1917 Name\x3d98.860939 1 6 152621818 SYNE1 G A 2 0.000399361 0.0010 . MedGen:CN517202 not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000205405|Promoter . . 0.0005 synonymous_SNV exonic . 0.0002911 . . . . . . . . 0.0010 Name\x3d99.576573 4 6 152621955 SYNE1 A G 2 0.00379393 0.0120 . . . . Name\x3dENSR00000205405|Promoter . . 0.0108 . intronic . 0.0072962 . . . . . . . . 0.0126 Name\x3d99.582865 2 6 152623056 SYNE1 T A 1 0.000199681 . 5.841 . . . Name\x3dENSR00000205405|Promoter . . 1.845e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1224039|N/A|SMARCA4|PAZAR,OREG1172553|N/A|TFAP2C|PAZAR,OREG1798829|N/A|RBL2|PAZAR,OREG1578113|N/A|FOXA1|PAZAR,OREG1780029|N/A|RBL2|PAZAR . P D . . . Name\x3d99.812403 10 6 152629586 SYNE1 G A 116 0.457468 0.5540 . MedGen:CN169374 not_specified Benign . . . 0.5308 . intronic . 0.497005 . . . . . . . . 0.5247 Name\x3d95.369334 1 6 152629617 SYNE1 C T 73 0.304313 0.3331 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.3230 . intronic . 0.311484 . . . . . . . . 0.3235 Name\x3d98.166992 1 6 152629631 SYNE1 C T 2 0.038139 0.0077 6.154 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0074 nonsynonymous_SNV exonic . 0.0184668 T . . . B T . . 0.0071 Name\x3d99.286541 1 6 152629772 SYNE1 GAA GAAA,GA,G 2 0.014377 0.0131 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign . . . 0.0244 . intronic . 0.0002846 . . . . . . . . . Name\x3d96.828777 1 6 152629815 SYNE1 C T 178 0.884784 0.8188 . . . . . . . 0.8013 . intronic . 0.816995 . . . . . . . . 0.7880 . 0 6 152630946 SYNE1 C T 25 0.117612 0.0941 . MedGen:CN169374 not_specified Benign . . . 0.1012 . intronic . 0.119481 . . Name\x3dOREG1544750|N/A|ETS1|PAZAR,OREG1934307|N/A|TAL1|PAZAR . . . . . 0.0981 Name\x3d97.219624 2 6 152631802 SYNE1 C CT 3 0.00678914 0.0101 . . . . . . . 0.0237 . intronic . 0.0004334 . . . . . . . . 0.0168 . 0 6 152632033 SYNE1 G A 2 0.0443291 0.0317 . MedGen:CN169374 not_specified Benign . . . 0.0290 . intronic . 0.034508 . . . . . . . . 0.0235 . 0 6 152638192 SYNE1 C T 4 0.00539137 0.0121 . . . . . . . . . intronic . 0.002445 . . . . . . . . . . 0 6 152639184 SYNE1 C G 8 0.0864617 0.0373 . MedGen:CN169374 not_specified Benign . . . 0.0389 . intronic . 0.0496953 . . . . . . . . 0.0463 Name\x3d96.765294 1 6 152639350 SYNE1 C T 1 0.000199681 . 6.336 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d99.530807 8 6 152640091 SYNE1 C T 1 0.000399361 0.0002 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 synonymous_SNV exonic . 0.000304 . . . . . . . . 0.0006 Name\x3d99.216194 3 6 152640110 SYNE1 G A 5 0.0463259 0.0338 2.539 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0290 nonsynonymous_SNV exonic . 0.0382789 T . . . B T . . 0.0272 Name\x3d99.569769 2.5 6 152640160 SYNE1 T A 1 0.000199681 . . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy Likely_benign . . . 3.811e-05 . intronic . 3.88e-05 . . . . . . . . . Name\x3d99.206946 5 6 152642331 SYNE1 T C 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d96.953323 5 6 152642795 SYNE1 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 6 152643070 SYNE1 C T 9 0.0107827 0.0348 . MedGen:CN169374 not_specified Likely_benign Name\x3dENSR00000809932|Enhancer . . 0.0360 . intronic . 0.0249091 . . . . . . . . 0.0409 . 1 6 152646279 SYNE1 G C 7 0.0623003 0.0337 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign . . . 0.0298 synonymous_SNV exonic . 0.042548 . . . . . . . . 0.0280 Name\x3d99.365489 1 6 152647388 SYNE1 A G 1 0.000199681 . . . . . . . . 3.684e-05 . intronic . 2.59e-05 . . . . . . . . . . 4 6 152647681 SYNE1 A T 156 0.814696 0.7755 1.978 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.7583 nonsynonymous_SNV exonic . 0.771588 T . . . B T . . 0.7494 Name\x3d99.445550 2.5 6 152650812 SYNE1 G A 6 0.0115815 0.0320 . . . . . . . . . intronic . 0.0041979 . . . . . . . . . Name\x3d97.279766 1 6 152650903 SYNE1 G A 7 0.033746 0.0375 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0384 synonymous_SNV exonic . 0.0345468 . . . . . . . . 0.0436 Name\x3d99.609000 1 6 152651521 SYNE1 C T 1 0.000199681 . 4.083 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D T . . . Name\x3d99.423402 5 6 152651759 SYNE1 C G 18 0.165136 0.0644 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.0589 synonymous_SNV exonic . 0.0929289 . . . . . . . . 0.0621 Name\x3d99.093406 1 6 152652034 SYNE1 A T 156 0.803315 0.7747 -5.477 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.7580 nonsynonymous_SNV exonic . 0.768211 T . . . B T . . 0.7490 Name\x3d99.062178 2.5 6 152652599 SYNE1 G A 7 0.0335463 0.0378 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0386 synonymous_SNV exonic . 0.035006 . . . . . . . . 0.0437 Name\x3d99.671387 1 6 152653037 SYNE1 T C 93 0.413139 0.4715 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.4703 . intronic . 0.454457 . . . . . . 0.0001 0.002 0.4607 Name\x3d97.542474 1 6 152658062 SYNE1 C G 2 0.0123802 0.0329 6.665 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0369 nonsynonymous_SNV exonic . 0.0265068 T . . . D D . . 0.0326 Name\x3d99.240878 4 6 152658141 SYNE1 C A 13 0.0876597 0.0687 2.991 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.0737 nonsynonymous_SNV exonic . 0.0677546 T . . . B D . . . Name\x3d99.051304 1 6 152658142 SYNE1 T C 154 0.793131 0.7634 0.371 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.7482 nonsynonymous_SNV exonic . 0.0054268 T . . . B T . . 0.7194 Name\x3d99.051304 2.5 6 152658191 SYNE1 T C 155 0.790136 0.7632 . MedGen:CN169374 not_specified Benign . . . 0.7533 . intronic . 0.723891 . . . . . . . . 0.7401 . 0 6 152658192 SYNE1 G A 1 0.000599042 . . . . . . . . 0.0003 . intronic . 0.0001746 . . . . . . . . . . 2 6 152658216 SYNE1 A G 82 0.242212 0.4128 . . . . . . . . . intronic . 0.0719008 . . . . . . . . . . 0 6 152660310 SYNE1 A G 64 0.157149 0.3498 . . . . . . . . . intronic . 0.0587056 . . . . . . . . . . 0 6 152660451 SYNE1 G A 30 0.0732827 0.1467 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign . . . 0.1417 synonymous_SNV exonic . 0.113368 . . . . . . . . 0.1315 Name\x3d99.141639 1 6 152665261 SYNE1 C A 129 0.545527 0.6082 0.235 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.6025 nonsynonymous_SNV exonic . 0.575245 T . Name\x3dOREG1413721|N/A|E2F1|PAZAR . B T . . 0.6178 Name\x3d98.515273 3.5 6 152665303 SYNE1 C T 1 0.0269569 0.0005 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign . . . 0.0021 synonymous_SNV exonic . 0.0084152 . . Name\x3dOREG1413721|N/A|E2F1|PAZAR . . . . . 0.0019 Name\x3d99.348241 2 6 152665374 SYNE1 C A 1 0.00938498 0.0005 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign . . . 0.0020 . intronic . 0.0029495 . . . . . . . 0.004 0.0013 Name\x3d96.552186 3 6 152668211 SYNE1 A G 5 0.00539137 0.0148 6.385 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0181 nonsynonymous_SNV exonic . 0.0110801 T . . . D D . . 0.0151 Name\x3d99.478054 4 6 152668215 SYNE1 C T 3 0.00479233 0.0114 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0134 synonymous_SNV exonic . 0.0094565 . . . . . . . . 0.0130 Name\x3d99.478054 1 6 152668272 SYNE1 C T 3 0.00239617 0.0080 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Benign/Likely_benign . . . 0.0074 synonymous_SNV exonic . 0.0053233 . . . . . . . . 0.0080 Name\x3d99.166504 7 6 152671475 SYNE1 A C 130 0.58746 0.6060 . MedGen:CN169374 not_specified Benign . . . 0.5998 . intronic . 0.578227 . . . . . . 0.7992 0.178 0.6098 Name\x3d99.073976 1.5 6 152671499 SYNE1 A T 1 0.000998403 0.0047 . . . . . . . 0.0052 . intronic . 0.0032082 . . . . . . . . 0.0043 Name\x3d96.859266 3 6 152671865 SYNE1 T G 4 0.0543131 0.0184 2.231 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign . . . 0.0188 nonsynonymous_SNV exonic . 0.0347667 T . . . B T . . 0.0201 Name\x3d99.118052 2.5 6 152671919 SYNE1 G GA 130 0.56889 0.6100 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.5969 . intronic . 0.0643265 . . . . . . . . . Name\x3d98.955237 1 6 152671975 SYNE1 A G 130 0.571286 0.6055 . . . . . . . . . intronic . 0.11703 . . . . . . . . . . 0 6 152673147 SYNE1 G A 130 0.565895 0.6068 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.5997 . intronic . 0.576668 . . . . . . . . 0.6134 . 0 6 152673312 SYNE1 C T 1 0.000399361 0.0015 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 synonymous_SNV exonic . 0.0007697 . . . . . . . . 0.0002 Name\x3d99.253947 3 6 152673519 SYNE1 A C 130 0.567492 0.6059 . MedGen:CN169374 not_specified Benign . . . 0.6000 . intronic . 0.56952 . . . . . . . . 0.6127 . 0 6 152673543 SYNE1 C CT,CTT 130 0.00838658 0.0010 . . . . . . . . . intronic . 0.0019978 . . . . . . . . . . 10 6 152674464 SYNE1 C A 1 0.00139776 0.0061 2.840 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0066 nonsynonymous_SNV exonic . 0.0045342 T . . . B T . . 0.0073 Name\x3d99.235883 4.5 6 152674524 SYNE1 T C 1 0.000399361 0.0026 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0014 synonymous_SNV exonic . 0.0009832 . . . . . . . . 0.0014 Name\x3d99.163144 3 6 152675854 SYNE1 A G 130 0.568291 0.6059 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.5997 synonymous_SNV exonic . 0.579003 . . . . . . . . 0.6133 Name\x3d98.465042 1 6 152679518 SYNE1 C T 6 0.0071885 0.0128 3.946 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Benign/Likely_benign . . . 0.0151 nonsynonymous_SNV exonic . 0.0122702 T . . . B T . . 0.02 Name\x3d99.386715 2.5 6 152679594 SYNE1 A G 3 0.00459265 0.0132 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0160 synonymous_SNV exonic . 0.0106208 . . . . . . . . 0.0176 Name\x3d99.388364 1 6 152679729 SYNE1 G A 33 0.143371 0.1696 . . . . . . . . . intronic . 0.027781 . . . . . . . . . Name\x3d95.303013 1 6 152683278 SYNE1 A G 1 0.00139776 0.0050 . . . . . . . 0.0061 . intronic . 0.0035252 . . . . . . . . 0.0052 . 2 6 152683413 SYNE1 G T 148 0.659145 0.6764 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.6646 synonymous_SNV exonic . 0.652644 . . . . . . . . 0.6806 Name\x3d99.256570 1 6 152686071 SYNE1 A G 2 0.00199681 0.0054 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0065 synonymous_SNV exonic . 0.0043984 . . . . . . . . 0.0064 Name\x3d99.546312 3 6 152686090 SYNE1 G T 2 0.00199681 0.0055 2.251 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0065 nonsynonymous_SNV exonic . 0.0043984 T . . . B T . . 0.0064 Name\x3d99.514360 4.5 6 152688366 SYNE1 G A 1 0.000199681 0.0001 0.385 MedGen:CN517202 not_provided Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 9.06e-05 T . . . B T . . . Name\x3d99.074810 6.5 6 152688567 SYNE1 C T 192 0.863618 0.9301 . MedGen:CN169374 not_specified Benign . . . 0.9156 . intronic . 0.859213 . . . . . . . . 0.9177 . 0 6 152690559 SYNE1 G A 103 0.410942 0.5392 . MedGen:CN169374 not_specified Benign . . . 0.5313 . intronic . 0.482219 . . . . . . . . 0.5455 . 0 6 152694184 SYNE1 T C 103 0.468251 0.5391 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.5315 synonymous_SNV exonic . 0.481533 . . . . . . . . 0.5458 Name\x3d99.072521 1 6 152694190 SYNE1 T C 1 0.000599042 0.0015 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0019 synonymous_SNV exonic . 0.0012613 . . . . . . . . 0.0015 Name\x3d99.072521 3 6 152697675 SYNE1 G T 2 0.00678914 0.0135 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0141 synonymous_SNV exonic . 0.0126518 . . . . . . . . 0.0121 Name\x3d99.456772 1 6 152697706 SYNE1 C T 111 0.529153 0.4688 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.4751 . intronic . 0.49196 . . . . . . . . 0.4606 Name\x3d97.825978 1 6 152702434 SYNE1 C T 1 0.000199681 6.481e-05 2.351 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant Uncertain_significance Name\x3dENSR00000205414|Promoter . Name\x3dMIMAT0004591|hsa-miR-124-5p|Experimental 3.686e-05 nonsynonymous_SNV exonic . 1.94e-05 T . Name\x3dOREG1792781|N/A|RBL2|PAZAR,OREG1798830|N/A|RBL2|PAZAR,OREG1852140|N/A|RB1|PAZAR,OREG1780031|N/A|RBL2|PAZAR,OREG1814453|N/A|RBL2|PAZAR . B T . . . Name\x3d99.610273 9.5 6 152708310 SYNE1 G A 62 0.249002 0.2150 0.486 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.2236 nonsynonymous_SNV exonic . 0.232397 T . . . B D . . 0.2190 Name\x3d98.966637 1 6 152708366 SYNE1 G C 1 0.000199681 . . . . . . . . 3.68e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.010708 5 6 152708472 SYNE1 C T 1 0.000199681 . 1.040 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 5.82e-05 T . . . B T . . . Name\x3d98.829875 6.5 6 152711395 SYNE1 T A 91 0.561901 0.3805 . MedGen:CN169374 not_specified Benign . . . 0.3865 . intronic . 0.432394 . . . . . . . . 0.3801 Name\x3d97.943011 1 6 152711422 SYNE1 C T 1 0.000199681 . 4.088 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 6.5e-06 T . . . D T . . . Name\x3d99.168299 5 6 152711428 SYNE1 C T 1 0.00319489 0.0111 -0.289 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Benign/Likely_benign . . . 0.0092 nonsynonymous_SNV exonic . 0.0062224 T . . . B T . . 0.0098 Name\x3d99.168299 2.5 6 152712440 SYNE1 G T 3 0.00159744 0.0031 0.895 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0036 nonsynonymous_SNV exonic . 0.0025549 T . . . P T . . 0.0035 Name\x3d99.262168 8.5 6 152712714 SYNE1 G A 32 0.169728 0.0007 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.0011 . intronic . 0.0057697 . . . . . . . . . Name\x3d95.786451 1 6 152712715 SYNE1 G A 32 0.169728 . . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . . . intronic . 0.0057891 . . . . . . . . . Name\x3d95.786451 1 6 152712730 SYNE1 G A 70 0.406949 0.0174 . . . . . . . 0.0047 . intronic . 0.0150192 . . . . . . . . . . 0 6 152712752 SYNE1 C T 91 0.558706 0.3754 . MedGen:CN169374 not_specified Benign . . . 0.2410 . intronic . 0.263897 . . . . . . . . 0.2696 Name\x3d95.937609 1 6 152717896 SYNE1 T C 8 0.014377 0.0338 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign . . . 0.0360 . intronic . 0.0276452 . . . . . . . . 0.0336 Name\x3d97.136500 1 6 152718008 SYNE1 T C 1 0.000199681 0.0006 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 synonymous_SNV exonic . 0.0005045 . . . . . . . . 0.0006 Name\x3d99.451756 3 6 152719792 SYNE1 C A 1 0.000199681 . 6.234 . . . . . . 3.681e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . D D . . . Name\x3d99.358161 8 6 152722228 SYNE1 A G 91 0.519768 0.3804 . MedGen:CN169374 not_specified Benign . . . 0.3878 . intronic . 0.41601 . . . . . . . . 0.3803 . 0 6 152725470 SYNE1 TAACTA T 1 0.071885 0.0067 . . . . . . . 0.0072 . intronic . 0.0010996 . . . . . . . . 0.0035 Name\x3d98.360903 1 6 152728281 SYNE1 G A 1 0.000199681 . . . . . . . . 5.523e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d99.110740 5 6 152730221 SYNE1 G A 1 0.000199681 . . . . . . . . 5.522e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . 0.0001 Name\x3d99.302069 5 6 152730736 SYNE1 A G 2 0.000998403 0.0017 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Likely_benign . . . 0.0025 synonymous_SNV exonic . 0.0014101 . . . . . . . . 0.0026 Name\x3d99.015202 3 6 152737559 SYNE1 G A 1 0.000199681 . 7.182 . . . . . . 1.84e-05 stopgain exonic . 1.29e-05 . . . . . . . . . Name\x3d98.882234 13 6 152740681 SYNE1 T TA 52 0.35024 0.2129 . . . . . . . 0.3375 . intronic . 0.00011 . . . . . . . . 0.2008 Name\x3d96.331563 1 6 152746593 SYNE1 A T 20 0.0327476 0.0619 -0.505 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0546 nonsynonymous_SNV exonic . 0.0433436 T . . . B T . . 0.0516 Name\x3d99.236413 2.5 6 152749373 SYNE1 G A 1 0.000199681 . 1.031 MedGen:CN517202 not_provided Uncertain_significance . . . 1.841e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . B T . . 0.0001 Name\x3d99.579704 6.5 6 152749380 SYNE1 T G 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.579704 5 6 152749494 SYNE1 C T 1 0.000599042 0.0016 -0.742 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0014 nonsynonymous_SNV exonic . 0.0008667 T . . . B T . . 0.0016 Name\x3d98.734166 4.5 6 152749540 SYNE1 C T 1 0.00239617 0.0095 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign . . . 0.0078 . intronic . 0.0051875 . . . . . . . . 0.0083 Name\x3d97.816710 3 6 152751286 SYNE1 A T 1 0.000199681 . . . . . . . . 0.0002 synonymous_SNV exonic . 5.17e-05 . . . . . . . . . Name\x3d98.979088 5 6 152751300 SYNE1 T C 1 0.000199681 6.489e-05 0.241 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN517202 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 7.12e-05 T . . . B T . . 0.0001 Name\x3d98.967288 6.5 6 152751367 SYNE1 A C 1 0.000199681 0.0042 . . . . . . . 0.0021 . intronic . 0.0008603 . . . . . . . . 0.0010 Name\x3d98.327224 3 6 152751398 SYNE1 CA C 5 0.028754 0.0299 . . . . . . . . . intronic . 0.0016429 . . . . . . . . . Name\x3d97.496761 1 6 152751426 SYNE1 A C 60 0.252196 0.2179 . . . . . . . . . intronic . 0.0439322 . . . . . . . . . . 0 6 152751558 SYNE1 C T 102 0.595847 0.4123 . . . . . . . . . intronic . 0.0859303 . . . . . . . . . . 0 6 152757122 SYNE1 A T 1 0.000199681 . 2.694 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.615424 8 6 152757224 SYNE1 G A 3 0.00239617 0.0041 6.572 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Likely_benign . . . 0.0041 nonsynonymous_SNV exonic . 0.0030401 D . . . D D . . 0.0057 Name\x3d99.698299 13 6 152763191 SYNE1 C T 1 0.00219649 0.0004 . MedGen:CN169374 not_specified Likely_benign . . . 0.0012 . intronic . 0.0011707 . . . . . . . . 0.0008 Name\x3d97.255133 3 6 152763258 SYNE1 T C 8 0.0127796 0.0274 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0227 synonymous_SNV exonic . 0.0181304 . . . . . . . . 0.0184 Name\x3d99.355319 1 6 152763413 SYNE1 T C 1 0.000199681 . . . . . . . . 1.844e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d97.660919 5 6 152765579 SYNE1 C T 4 0.00678914 0.0127 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0136 synonymous_SNV exonic . 0.0093595 . . . . . . . . 0.0124 Name\x3d99.509282 1 6 152768796 SYNE1 T G 108 0.597644 0.4303 . MedGen:CN169374 not_specified Benign . . . 0.4377 . intronic . 0.469806 . . . . . . . . 0.4338 Name\x3d97.892480 1 6 152770645 SYNE1 G A 14 0.0185703 0.0394 . . . . . . . 0.0362 . intronic . 0.0277163 . . . . . . . . 0.0345 . 0 6 152771749 SYNE1 T C 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 6 152771789 SYNE1 G T 1 0.000199681 . 4.036 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d99.645753 6.5 6 152771849 SYNE1 G A 26 0.048722 0.0729 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.0681 synonymous_SNV exonic . 0.0556655 . . Name\x3dOREG0232952|N/A|USF1|JASPAR . . . . . 0.0680 Name\x3d98.977898 2 6 152772239 SYNE1 A C 1 0.000199681 . -0.914 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . Name\x3d99.392797 6.5 6 152772264 SYNE1 A G 108 0.607228 0.4214 3.767 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.4304 nonsynonymous_SNV exonic . 0.471094 D . . . B D . . 0.4295 Name\x3d99.091145 4 6 152774695 SYNE1 G A 1 0.000199681 6.48e-05 0.117 . . . . . . 5.522e-05 . intronic . 3.23e-05 T . . . B D . . 0.0001 Name\x3d97.578758 5 6 152774917 SYNE1 A G 108 0.607428 0.4223 . . . . . . . . . intronic . 0.0880648 . . . . . . . . . Name\x3d95.619559 1 6 152776540 SYNE1 T C 6 0.0061901 0.0095 . . . . . . . 0.0144 . intronic . 0.0106144 . . . . . . . . 0.0134 . 0 6 152776750 SYNE1 G A 53 0.301518 0.2293 . MedGen:CN169374 not_specified Benign . . . 0.2419 . intronic . 0.252604 . . . . . . . . 0.2298 Name\x3d98.244524 1 6 152777095 SYNE1 A C 26 0.0433307 0.0733 0.696 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.0682 nonsynonymous_SNV exonic . 0.0554068 T . . . B T . . 0.0679 Name\x3d99.151559 2.5 6 152777200 SYNE1 A G 2 0.00339457 0.0076 . . . . . . . 0.0091 . intronic . 0.0067528 . . . . . . . . 0.0070 Name\x3d96.337826 3 6 152777236 SYNE1 A G 1 0.000199681 . . . . . . . . . . intronic . 1.29e-05 . . . . . . . . . Name\x3d96.539355 5 6 152779932 SYNE1 C T 1 0.000399361 6.483e-05 1.805 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN517202 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided Uncertain_significance . . . 3.683e-05 nonsynonymous_SNV exonic . 7.12e-05 T . . . B T . . . Name\x3d99.639193 6.5 6 152779933 SYNE1 G A 8 0.0115815 0.0317 4.640 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0333 nonsynonymous_SNV exonic . 0.0252325 T . . . P D . . 0.0312 Name\x3d99.639193 1 6 152782933 SYNE1 G A 108 0.602436 0.4223 . . . . . Name\x3dTEAD4::ELF1|ENSPFM0506|ENSM00205796216|11.7642286588,TEAD4::ELK1|ENSPFM0506|ENSM00205796216|11.7642286588,TEAD4::SPIB|ENSPFM0506|ENSM00205796216|11.7642286588 . . . intronic . 0.0886793 . . . . . . . . . Name\x3d98.934202 2 6 152784054 SYNE1 G A 29 0.248802 0.1171 . MedGen:CN169374 not_specified Likely_benign . . . 0.1198 . intronic . 0.156751 . . . . . . . . 0.1307 Name\x3d98.134640 1 6 152784075 SYNE1 C T 29 0.248802 0.1170 . MedGen:CN169374 not_specified Likely_benign . . . 0.1197 . intronic . 0.156583 . . . . . . . . 0.1305 Name\x3d96.081320 1 6 152784621 SYNE1 T C 1 0.00399361 0.0089 4.526 . . . . . . 0.0086 nonsynonymous_SNV exonic . 0.0062224 T . . . D T . . 0.0080 Name\x3d99.438642 3 6 152787026 SYNE1 G A 2 0.00119808 0.0019 . . . . . . . . . intronic . 0.0005821 . . . . . . . . . . 2 6 152793375 SYNE1 TA T 25 0.195487 0.1103 . . . . Name\x3dENSR00000809955|Promoter . . . . intronic . 0.0216306 . . . . . . . . . Name\x3d98.279753 2 6 152793412 SYNE1 C A 168 0.855232 0.7072 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000809955|Promoter . . 0.7185 . intronic rs4523096|Bipolar-disorder|1.15455|7E-8|PMID:28115744 0.743684 . . . . . . . . 0.7044 Name\x3d98.411950 2 6 152793572 SYNE1 T A 82 0.483427 0.3382 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000809955|Promoter . . 0.3395 . intronic . 0.0222377 . . . . . . . . 0.0162 Name\x3d99.277318 2 6 152793575 SYNE1 A G 108 0.602236 0.4149 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000809955|Promoter . . 0.4261 . intronic . 0.452219 . . . . . . . . 0.1459 Name\x3d99.277318 2 6 152793628 SYNE1 C T 14 0.028754 0.0394 . . . . Name\x3dENSR00000809955|Promoter . . . . intronic . 0.0056726 . . . . . . . . . Name\x3d99.277837 2 6 152806014 SYNE1 C T 2 0.00199681 0.0008 6.660 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Benign/Likely_benign . . . 0.0014 nonsynonymous_SNV exonic . 0.0013583 D . . . D D . . 0.0010 Name\x3d99.568680 9 6 152809527 SYNE1 A T 108 0.589257 0.4266 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.4377 . intronic . 0.465628 . . . . . . . 0.028 0.4328 Name\x3d98.927068 1 6 152809540 SYNE1 A G 1 0.000199681 0.0012 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 synonymous_SNV exonic . 0.0005045 . . . . . . . . 0.0010 Name\x3d99.211953 3 6 152809699 SYNE1 A C 1 0.000199681 0.0001 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d97.628973 5 6 152826456 SYNE1 T C 1 0.000199681 . 3.348 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B T . . . Name\x3d99.392559 5 6 152831295 SYNE1 G A 1 0.000199681 0.0001 . . . . . . . 3.682e-05 . intronic . 2.59e-05 . . . . . . . . . Name\x3d97.881290 5 6 152832851 SYNE1 T C 1 0.00279553 0.0115 . . . . . . . . . intronic . 0.0015524 . . . . . . . . . Name\x3d98.308234 1 6 152847284 SYNE1 A G 1 0.00279553 0.0115 . 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign . . . 0.0124 synonymous_SNV exonic . 0.0076648 . . . . . . . . 0.0114 Name\x3d99.280894 1 6 152847335 SYNE1 G A 74 0.264177 0.3310 . MedGen:CN169374 not_specified Benign . . . 0.3238 . intronic . 0.288366 . . . . . . . . 0.3233 . 0 7 35271037 TBX20 C T 2 0.00339457 0.0077 . . . . Name\x3dENSR00001123772|TF_binding_site . . . . intronic . 0.0013519 . . Name\x3dOREG1694879|N/A|GATA3|PAZAR,OREG1646905|N/A|FOXA1|PAZAR,OREG1588470|N/A|FOXA1|PAZAR . . . . . . Name\x3d96.923844 3 7 35271254 TBX20 T C 45 0.0888578 0.1493 . . . . . . . . . intronic . 0.0265132 . . Name\x3dOREG1694879|N/A|GATA3|PAZAR,OREG1646905|N/A|FOXA1|PAZAR,OREG1588470|N/A|FOXA1|PAZAR . . . . . 0.1782 Name\x3d99.624939 0 7 35280480 TBX20 T C 1 0.000199681 . . . . . . . . 1.861e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.198201 3 7 35280539 TBX20 G T 1 0.0305511 0.0008 . MedGen:CN230736 Cardiovascular_phenotype Benign . . . 0.0005 synonymous_SNV exonic . 0.0093789 . . . . . . . . 0.0006 Name\x3d99.941169 -1 7 35280693 TBX20 C T 85 0.34365 0.3900 . . . . . . . 0.3820 . intronic . 0.371004 . . . . . . . . 0.3906 Name\x3d99.732609 1 7 35288276 TBX20 T C 85 0.34365 0.3898 . . . . . . . 0.3810 . intronic . 0.378514 . . Name\x3dOREG1893137|N/A|STAT1|PAZAR . . . . . 0.3907 Name\x3d98.448200 2 7 35293158 TBX20 G C 1 0.000199681 . 6.806 . . . Name\x3dENSR00000821757|Promoter . . 1.901e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . P D . . . Name\x3d99.961275 7 7 35293193 TBX20 A G 154 0.69389 0.6737 . MedGen:C1969657,OMIM:611363|MedGen:CN230736 Atrial_septal_defect_4|Cardiovascular_phenotype Benign Name\x3dENSR00000821757|Promoter . . 0.6793 synonymous_SNV exonic . 0.674991 . . . . . . . . 0.6892 Name\x3d99.961100 0 7 35293222 TBX20 T A 3 0.000599042 0.0003 2.411 . . . Name\x3dENSR00000821757|Promoter . . 0.0002 nonsynonymous_SNV exonic . 0.0001488 T . . . P T . . 0.0002 Name\x3d99.962050 7.5 7 81579832 CACNA2D1 T TA 21 0.0621006 0.0861 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.1015 . intronic . 0.0018111 . . . . . . . . 0.0808 . -2 7 81588636 CACNA2D1 G A 64 0.222644 0.3060 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.3051 synonymous_SNV exonic . 0.282655 . . . . . . . . 0.3153 Name\x3d98.944438 -1 7 81588738 CACNA2D1 G A 1 0.00139776 0.0003 . . . . . . . . . intronic . 0.0003458 . . . . . . . . . . 0 7 81591114 CACNA2D1 GTAATGATTATAACAGTATATACAATTTCT G 145 0.698682 0.6894 . . . . . . . . . intronic . 0.0422622 . . . . . . . . . . -2 7 81591409 CACNA2D1 G A 8 0.00778754 0.0228 . . . . . . . . . intronic . 0.0038486 . . . . . . . . . . -2 7 81591716 CACNA2D1 T G 66 0.230232 0.3046 . . . . . . . 0.3534 . intronic . 0.271678 . . . . . . . . 0.3168 . -2 7 81591827 CACNA2D1 A T 1 0.000199681 . . . . . . . . 9.198e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 7 81593454 CACNA2D1 G A 56 0.257987 0.1989 . . . . . . . 0.2097 . intronic . 0.217481 . . . . . . . . 0.2076 . -2 7 81593508 CACNA2D1 G A 1 0.000199681 6.488e-05 . . . . . . . 1.845e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 7 81594860 CACNA2D1 C T 1 0.000399361 . . . . . . . . 5.557e-05 . intronic . 0.0001876 . . . . . . . . . Name\x3d98.329747 3 7 81596639 CACNA2D1 A G 1 0.000199681 . . . . . . . . . . intronic . 1.94e-05 . . . . . . . . . . 2 7 81598129 CACNA2D1 T C 2 0.00858626 0.0142 . . . . . . . . . intronic . 0.0017852 . . . . . . . . . . -2 7 81599131 CACNA2D1 G A 2 0.000798722 6.523e-05 . . . . . . . . . intronic . 0.0004226 . . . . . . . . . . 0 7 81600168 CACNA2D1 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 7 81601231 CACNA2D1 C G 74 0.236422 0.3748 . . . . . . . 0.3720 . intronic . 0.0008344 . . . . . . . . 0.3844 . -2 7 81603871 CACNA2D1 G GAA 28 0.096845 0.0833 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1174 . intronic . 0.0019922 . . . . . . . . 0.0922 Name\x3d96.591094 -1 7 81603945 CACNA2D1 AT A 154 0.678514 0.7292 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 7 81612766 CACNA2D1 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d99.126500 3 7 81634681 CACNA2D1 G T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d97.103635 3 7 81634822 CACNA2D1 GA AA,G 1 0.20028 0.0488 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.2788 . intronic . 0.0001617 . . . . . . . . . Name\x3d96.838848 -1 7 81635221 CACNA2D1 T A 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 2 7 81635245 CACNA2D1 T C 1 0.00399361 0.0051 . . . . . . . . . intronic . 0.0006792 . . . . . . . . . . 0 7 81641500 CACNA2D1 G A 1 0.00319489 0.0133 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.0127 synonymous_SNV exonic . 0.0084863 . . . . . . . . 0.0083 Name\x3d99.363203 -1 7 81641570 LOC101927356 G GAA,GAAA,GAAAA 1 0.221046 0.2423 . MedGen:CN169374 not_specified Benign . . . 0.1138 . ncRNA_intronic . 0.0020246 . . . . . . . . . Name\x3d96.093890 -1 7 81641571 LOC101927356 A G 2 0.00159744 0.0002 . MedGen:CN169374 not_specified Likely_benign . . . 0.0645 . ncRNA_intronic . 0.0034605 . . . . . . 0.0001 0.022 . . -2 7 81642949 LOC101927356 C T 102 0.544728 0.3874 . . . . . . . . . ncRNA_intronic . 0.0001153 . . . . . . . . . . -2 7 81643813 LOC101927356 T C 3 0.00359425 0.0071 . MedGen:CN169374 not_specified Benign . . . 0.0069 . ncRNA_intronic . 0.0054656 . . . . . . . . 0.0079 . 4 7 81643836 LOC101927356 A C 1 0.000199681 . . . . . . . . 0.0002 . ncRNA_intronic . 0.0001164 . . . . . . . . . . 2 7 81667468 CACNA2D1 C T 8 0.019369 0.0621 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.0500 synonymous_SNV exonic . 0.0372958 . . . . . . . . 0.0448 Name\x3d98.997462 -1 7 81667579 CACNA2D1 A G 3 0.00239617 0.0059 . . . . . . . 0.0055 . intronic . 0.0039456 . . . . . . . . 0.0063 Name\x3d96.251529 5 7 81689726 CACNA2D1 C T 1 0.000199681 . . . . . . . . 1.856e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d97.457519 3 7 81693768 CACNA2D1 T C 29 0.091853 0.0763 . . . . . . . . . intronic . 0.0813355 . . . . . . . . . . -2 7 81695859 CACNA2D1 G A 4 0.0071885 0.0010 . MedGen:CN169374 not_specified Likely_benign . . . 5.72e-05 . intronic . 5.82e-05 . . . . . . . . . . 4 7 81746295 CACNA2D1 A G 1 0.00279553 0.0083 . . . . . . . . . intronic . 0.0014877 . . . . . . . . . . 0 7 81765930 CACNA2D1 T G 1 0.000399361 0.0004 . . . . . . . 0.0004 . intronic . 0.0001617 . . . . . . . . 0.0001 Name\x3d96.778474 3 7 81765996 CACNA2D1 C CA 20 0.125399 0.0816 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.1506 . intronic . 0.0001811 . . . . . . . . 0.0985 Name\x3d98.319391 -1 7 81765997 CACNA2D1 A G 1 0.000199681 . . . . . . . . . . intronic . 0.0001811 . . . . . . 0.0077 0.164 . Name\x3d98.319391 3 7 81799966 CACNA2D1 G A 4 0.0139776 0.0219 . . . . . . . 0.0239 . intronic . 0.0190166 . . . . . . . . 0.0274 . -2 7 81799990 CACNA2D1 T C 4 0.0609026 0.0220 . . . . . . . . . intronic . 0.0062224 . . . . . . . . 0.0292 Name\x3d95.829055 -1 7 81799996 CACNA2D1 C G 4 0.0609026 0.0220 . . . . . . . . . intronic . 0.0062354 . . . . . . . . 0.0289 Name\x3d95.778723 -1 7 81800028 CACNA2D1 CAGA C 1 0.000798722 0.0008 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 7 81964578 CACNA2D1 G GA 50 0.16254 0.2173 . MedGen:CN169374 not_specified Benign . . . 0.2131 . intronic . 0.0050129 . . . . . . . . 0.2010 Name\x3d98.296986 -1 7 81964649 CACNA2D1 T G 3 0.0385383 0.0112 . . . . . . . . . intronic . 0.0055627 . . . . . . . . . . -2 7 82072789 CACNA2D1 G A 1 0.000199681 0.0002 . . . . Name\x3dENSR00000214488|Promoter . . 0.0002 . UTR5 . 0.0001035 . . Name\x3dOREG1901533|N/A|STAT1|PAZAR,OREG1511098|N/A|EGR1|PAZAR . . . . . 0.0002 Name\x3d99.501598 5 7 91603004 AKAP9 G A 1 0.0225639 0.0003 0.259 . . . . . . 0.0003 . intronic . 0.0067205 . . . . . . . . 0.0006 . 0 7 91603115 AKAP9 C T 2 0.00219649 0.0108 -1.115 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0134 nonsynonymous_SNV exonic . 0.0083958 T . . . B T . . 0.0140 Name\x3d98.979146 2.5 7 91622187 AKAP9 G C 1 0.000199681 . . . . . . . . 1.924e-05 . intronic . 1.29e-05 . . . . . . 0.0062 0.196 . Name\x3d98.607315 5 7 91630330 AKAP9 G A 1 0.000199681 0.0003 -0.799 Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3150943,OMIM:613688|MedGen:CN169374|MedGen:CN517202 Cardiac_arrest|Long_QT_syndrome|Long_QT_syndrome_2|not_specified|not_provided Likely_benign . . . 0.0011 nonsynonymous_SNV exonic . 0.0002264 T . . . B D . . 0.0001 Name\x3d98.721270 3 7 91630532 AKAP9 G A 1 0.0177716 6.488e-05 2.698 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 5.551e-05 nonsynonymous_SNV exonic . 0.0036157 T . . . P T . . 0.0002 Name\x3d99.144111 2.5 7 91630565 AKAP9 T C 1 0.000199681 0.0002 4.893 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 0.0001358 T . . . D D . . 0.0002 Name\x3d99.294499 8 7 91630620 AKAP9 G T 86 0.372204 0.3794 -0.375 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1527249|MedGen:C2678483,OMIM:611820|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Colorectal_cancer|Long_QT_syndrome_11|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4005 nonsynonymous_SNV exonic rs6964587|Breast-cancer|1.05|5E-7|PMID:25751625 0.37713 T . . . B T . . 0.4030 Name\x3d98.248874 2.5 7 91632306 AKAP9 C T 185 0.935903 0.8487 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.8662 synonymous_SNV exonic . 0.881858 . . . . . . . . 0.8727 Name\x3d97.909585 1 7 91641682 AKAP9 A G 1 0.000998403 0.0005 . . . . . . . . . intronic . 0.000194 . . . . . . . . . . 2 7 91641714 AKAP9 T C 1 0.00319489 6.483e-05 . . . . . . . 0.0002 . intronic . 0.0020698 . . . . . . . . . . 2 7 91641928 AKAP9 A G 86 0.373802 0.3792 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4006 synonymous_SNV exonic . 0.378158 . . . . . . . . 0.4031 Name\x3d99.016230 1 7 91643488 AKAP9 G C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 7 91646406 AKAP9 G A 3 0.0109824 0.0064 0.354 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0179 nonsynonymous_SNV exonic . 0.0086739 T . . . B T . . 0.0089 Name\x3d98.284450 2.5 7 91652178 AKAP9 A AAAC 86 0.42472 0.3774 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4012 nonframeshift_insertion exonic rs10644111|Breast-cancer|0.0424|3E-11|PMID:29059683 0.0116816 . . Name\x3dOREG1655788|N/A|FOXA1|PAZAR,OREG1597449|N/A|FOXA1|PAZAR,OREG1689839|N/A|GATA3|PAZAR . . . . . 0.4031 Name\x3d97.988638 2 7 91659150 AKAP9 C G 86 0.373802 0.3802 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 7 91660820 AKAP9 A T 1 0.000599042 0.0003 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Likely_benign . . . 0.0005 . intronic . 0.0004269 . . . . . . 0.0002 0.048 0.0005 Name\x3d98.856765 3 7 91667692 AKAP9 T G 86 0.359625 0.3784 . . . . . . . 0.4168 . intronic . 0.36418 . . . . . . . . 0.3989 Name\x3d96.327682 1 7 91669950 AKAP9 T C 1 0.0091853 0.0176 . . . . . . . 0.0122 . intronic . 0.0011707 . . . . . . . . . . 0 7 91669960 AKAP9 GT G 87 0.398363 0.0046 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Benign . . . 0.2608 . intronic . 0.0001164 . . . . . . . . . . 0 7 91672166 AKAP9 T C 4 0.00738818 0.0075 . . . . . . . . . intronic . 0.0015588 . . Name\x3dOREG1271108|N/A|SMARCA4|PAZAR . . . . . . Name\x3d98.540475 8 7 91674302 AKAP9 G A 86 0.428514 0.3793 . MedGen:C2678483,OMIM:611820|MedGen:CN169374 Long_QT_syndrome_11|not_specified Benign . . . 0.4013 . intronic . 0.388947 . . . . . . . . 0.4031 . 1 7 91691601 AKAP9 C T 86 0.359824 0.3787 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4006 synonymous_SNV exonic . 0.3694 . . . . . . . . 0.4031 Name\x3d99.418209 1 7 91706252 AKAP9 A G 1 0.000998403 0.0006 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0004 synonymous_SNV exonic . 0.0007115 . . Name\x3dOREG1655784|N/A|FOXA1|PAZAR,OREG1597448|N/A|FOXA1|PAZAR,OREG1689838|N/A|GATA3|PAZAR . . . . . 0.0002 Name\x3d99.223680 4 7 91707197 AKAP9 C T 86 0.36242 0.3795 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified Benign/Likely_benign . . . 0.4315 . intronic . 0.0001746 . . . . . . . 0.006 0.4004 Name\x3d98.037291 1 7 91708722 AKAP9 G A 1 0.00159744 0.0043 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.0039 synonymous_SNV exonic . 0.0029236 . . . . . . . . 0.0047 Name\x3d98.807394 3 7 91708898 AKAP9 A G 31 0.0654952 0.1519 -1.816 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1349 nonsynonymous_SNV exonic . 0.109035 T . . . B T . . 0.1273 Name\x3d98.258596 2.5 7 91708935 AKAP9 T G 1 0.000199681 0.0005 -0.178 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 nonsynonymous_SNV exonic . 0.0002911 T . . . B T . . 0.0002 Name\x3d98.887135 4.5 7 91711791 AKAP9 A AT,G 1 0.360623 0.3801 . . . . . . . 0.4056 . intronic . 0.0001035 . . . . . . . . 0.4042 . 0 7 91712609 AKAP9 A C 2 0.000798722 0.0019 -0.507 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0022 nonsynonymous_SNV exonic . 0.0013001 T . . . B D . . 0.0013 Name\x3d98.736401 3 7 91712678 AKAP9 T G 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d98.456065 5 7 91712698 AKAP9 A G 85 0.295927 0.3777 -0.076 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.3996 nonsynonymous_SNV exonic . 0.353333 T . . . B T . . 0.4013 Name\x3d99.156142 2.5 7 91713016 AKAP9 TA T 86 0.360623 0.3954 . . . . . . . 0.5129 . intronic . 0.0043596 . . . . . . . . . . 0 7 91713017 AKAP9 A T 73 0.322085 0.0004 . . . . . . . 0.0083 . intronic . 0.0309634 . . . . . . . . . . 0 7 91713018 AKAP9 A T 86 0.360623 0.3775 . . . . . . . 0.4950 . intronic . 0.287849 . . . . . . . . . . 0 7 91713972 AKAP9 C T 86 0.373802 0.3793 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4004 synonymous_SNV exonic . 0.373947 . . . . . . . . 0.4027 Name\x3d98.200976 1 7 91714911 AKAP9 C T 214 0.998802 0.9941 -0.130 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.9965 nonsynonymous_SNV exonic . 0.0001035 T . . . B T . . 0.9962 Name\x3d98.818023 2.5 7 91714998 AKAP9 G A 1 0.000199681 . 0.726 . . . . . . 2.281e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . B T . . . Name\x3d98.993761 6.5 7 91715662 AKAP9 C T 85 0.295727 0.3779 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.3994 synonymous_SNV exonic . 0.345701 . . . . . . . . 0.4013 Name\x3d99.049498 1 7 91718874 AKAP9 A G 1 0.0125799 0.0217 0.526 . . . . . . 0.0194 . intronic . 0.0196375 . . . . . . . . 0.0203 Name\x3d97.308932 1 7 91726280 AKAP9 G A 1 0.000199681 . 0.447 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . B T . . . Name\x3d98.708410 6.5 7 91726470 AKAP9 T C 1 0.000998403 0.0021 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0018 synonymous_SNV exonic . 0.0014942 . . . . . . . . 0.0030 Name\x3d99.231276 3 7 91726927 AKAP9 A C 86 0.377396 0.3788 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4004 synonymous_SNV exonic . 0.379795 . . . . . . . . 0.4036 Name\x3d98.643307 1 7 91727018 AKAP9 C A 1 0.000199681 . 0.054 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . Name\x3d98.437901 6.5 7 91727385 AKAP9 G A 86 0.362021 0.3789 . . . . . . . 0.4175 . intronic . 0.365532 . . . . . . . . 0.4027 . 0 7 91727479 AKAP9 A T 1 0.000599042 0.0011 6.273 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0015 nonsynonymous_SNV exonic . 0.0008926 T . . . D D . . 0.0013 Name\x3d98.791561 6 7 91727487 AKAP9 A G 1 0.000998403 0.0006 3.059 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0011 nonsynonymous_SNV exonic . 0.0008021 T . . . P D . . 0.0008 Name\x3d98.674099 3 7 91729127 AKAP9 A G 2 0.00678914 0.0100 1.252 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0098 nonsynonymous_SNV exonic . 0.0073479 T . . . B T . . 0.0088 Name\x3d98.850297 4.5 7 91730115 AKAP9 G C 1 0.00139776 0.0079 . . . . . . . . . intronic . 0.0007568 . . . . . . . . . Name\x3d98.519386 3 7 91732083 AKAP9 G A 1 0.00159744 0.0019 2.838 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0023 nonsynonymous_SNV exonic . 0.0015524 T . . . B T . . 0.0021 Name\x3d99.047890 4.5 7 91734904 AKAP9 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 7 91734913 AKAP9 C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 7 91735104 AKAP9 A C 2 0.00139776 0.0005 . . . . . . . 0.0007 . intronic . 0.0008279 . . . . . . . . 0.0001 Name\x3d95.534004 3 7 91735110 AKAP9 A G 1 0.000199681 6.487e-05 . . . . . . . 1.857e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d95.534004 5 7 91736794 AKAP9 T A 88 0.428315 0.3769 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 1 7 91736803 AKAP9 AT A 1 0.000599042 0.0033 . . . . . . . . . intronic . 0.0008068 . . . . . . . . . . 2 7 91739498 AKAP9 G A 1 0.000399361 0.0002 . . . . . . . 0.0002 . UTR3 . 7.76e-05 . . . . . . . . . Name\x3d99.121816 5 7 92077202 GATAD1 G A 1 0.000199681 . . . . . Name\x3dENSR00000215088|Promoter . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1193989|N/A|TFAP2C|PAZAR,OREG1516294|N/A|EGR1|PAZAR,OREG1275317|N/A|SMARCA4|PAZAR,OREG1907246|N/A|STAT1|PAZAR . . . . . . Name\x3d99.289036 7 7 92077203 GATAD1 G A 25 0.0816693 0.1303 -0.493 MedGen:C3553409,OMIM:614672|MedGen:CN169374 Cardiomyopathy,_dilated,_2b|not_specified Benign Name\x3dENSR00000215088|Promoter . . 0.3 nonsynonymous_SNV exonic . 0.0222572 T . Name\x3dOREG1516294|N/A|EGR1|PAZAR,OREG1193989|N/A|TFAP2C|PAZAR,OREG1907246|N/A|STAT1|PAZAR,OREG1275317|N/A|SMARCA4|PAZAR . B T . . . Name\x3d99.289036 5.5 7 92084022 GATAD1 G GT 12 0.0179712 0.0342 . . . . . . . 0.0368 . intronic . 0.0011319 . . . . . . . . 0.0412 . 0 7 92085763 GATAD1 C T 5 0.00698882 0.0139 7.208 MedGen:C3553409,OMIM:614672|MedGen:CN169374 Cardiomyopathy,_dilated,_2b|not_specified Benign . . . 0.0166 nonsynonymous_SNV exonic . 0.0117786 T . . . D D . . 0.0155 Name\x3d99.546593 4 7 128470838 FLNC C T 21 0.110024 0.0926 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign Name\x3dENSR00000217783|Promoter . . 0.0844 synonymous_SNV exonic . 0.091907 . . Name\x3dOREG1511284|N/A|EGR1|PAZAR . . . . . 0.0851 Name\x3d99.926054 1 7 128471084 FLNC G A 1 0.000599042 0.0018 . . . . Name\x3dENSR00000217783|Promoter . . 0.0015 . intronic . 0.0008926 . . Name\x3dOREG1511284|N/A|EGR1|PAZAR . . . . . 0.0021 Name\x3d98.617837 3 7 128475583 FLNC C A 1 0.000199681 . 2.790 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B D . . . Name\x3d99.925415 6 7 128475624 FLNC C T 2 0.00119808 0.0018 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0026 synonymous_SNV exonic . 0.0017335 . . . . . . . . 0.0021 Name\x3d99.904921 1 7 128475627 FLNC C T 1 0.000199681 0.0004 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 synonymous_SNV exonic . 0.0002523 . . . . . . 0.0001 0.074 0.0001 Name\x3d99.904921 3 7 128477472 FLNC T C 26 0.121805 0.1202 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.1103 synonymous_SNV exonic . 0.108304 . . Name\x3dOREG1511288|N/A|EGR1|PAZAR . . . . . 0.1110 Name\x3d99.885324 0 7 128477547 FLNC T C 26 0.121006 0.1201 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.1103 synonymous_SNV exonic . 0.107023 . . Name\x3dOREG1511288|N/A|EGR1|PAZAR . . . . . 0.1108 Name\x3d99.871093 0 7 128477620 FLNC G A 24 0.076877 0.0897 . MedGen:CN169374 not_specified Benign . . . 0.0882 . intronic . 0.0807363 . . Name\x3dOREG1511288|N/A|EGR1|PAZAR . . . . . 0.0864 Name\x3d98.350675 0 7 128477865 FLNC G A 8 0.197484 0.0396 . . . . . . . . . intronic . 0.0165522 . . Name\x3dOREG1511288|N/A|EGR1|PAZAR . . . . . . Name\x3d96.449430 0 7 128478103 FLNC C T 8 0.196486 0.0397 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0430 synonymous_SNV exonic . 0.0938798 . . Name\x3dOREG1511288|N/A|EGR1|PAZAR . . . . . 0.0409 Name\x3d99.811704 0 7 128478605 FLNC C T 1 0.0191693 0.0002 . . . . . . . . . intronic . 0.0052251 . . . . . . . . 0.0005 . -2 7 128480099 FLNC C T 1 0.000199681 0.0003 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . 0.0003 synonymous_SNV exonic . 0.0001164 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0006 Name\x3d99.837926 2 7 128480123 FLNC C A 3 0.196086 0.0192 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0208 synonymous_SNV exonic . 0.0789058 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0179 Name\x3d99.845743 0 7 128480229 FLNC C A 1 0.00139776 0.0062 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0065 . intronic . 0.0041591 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0052 Name\x3d96.189887 2 7 128480620 FLNC T C 1 0.000199681 0.0003 4.290 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0002 nonsynonymous_SNV exonic . 0.0001682 D . Name\x3dOREG1511285|N/A|EGR1|PAZAR . D D . . 0.0001 Name\x3d99.843246 7 7 128480666 FLNC C T 4 0.0159744 0.0445 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0400 synonymous_SNV exonic . 0.0309698 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0347 Name\x3d99.853672 0 7 128480791 FLNC C G 27 0.298123 0.0914 . . . . . . . . . intronic . 0.0002689 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . . . -1 7 128480793 FLNC GGGCTGCGAGGGAGTTTGAGGGGAGATGGAGTT G 4 0.019369 0.0442 . . . . . . . . . intronic . 0.0085677 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . . Name\x3d97.612602 0 7 128481035 FLNC G T 2 0.00239617 0.0004 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 . intronic . 0.0008409 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0005 Name\x3d99.198328 2 7 128481060 FLNC G A 6 0.00459265 0.0078 . MedGen:CN169374 not_specified Likely_benign . . . 0.0101 . intronic . 0.0052069 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0075 Name\x3d99.235678 0 7 128481196 FLNC T C 8 0.264976 0.0428 . MedGen:CN169374 not_specified Benign . . . 0.0456 . intronic . 0.117418 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0434 Name\x3d95.552168 0 7 128481312 FLNC G A 1 0.00159744 0.0064 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0065 synonymous_SNV exonic . 0.0041591 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0054 Name\x3d99.917557 2 7 128481386 FLNC T G 1 0.000399361 . 0.903 MedGen:CN169374 not_specified Likely_benign . . . 7.361e-05 nonsynonymous_SNV exonic . 0.0003428 T . Name\x3dOREG1511285|N/A|EGR1|PAZAR . P T . . . Name\x3d99.909324 5.5 7 128481578 FLNC A C 1 0.00199681 0.0040 6.252 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0059 nonsynonymous_SNV exonic . 0.0033699 D . Name\x3dOREG1414129|N/A|E2F1|PAZAR,OREG1511285|N/A|EGR1|PAZAR . D D . . 0.0054 Name\x3d99.911369 8 7 128482258 FLNC T C 1 0.00179712 0.0055 . MedGen:CN169374 not_specified Likely_benign . . . 0.0058 . intronic . 0.0036028 . . Name\x3dOREG1807084|N/A|RBL2|PAZAR,OREG1511283|N/A|EGR1|PAZAR,OREG1414129|N/A|E2F1|PAZAR . . . . . 0.0058 Name\x3d97.682487 2 7 128482440 FLNC C G 9 0.267372 0.0539 . MedGen:CN169374 not_specified Benign . . . 0.0541 . intronic . 0.124352 . . Name\x3dOREG1511283|N/A|EGR1|PAZAR,OREG1414129|N/A|E2F1|PAZAR . . . . . 0.0515 Name\x3d99.717984 0 7 128482806 FLNC G T 4 0.0147764 0.0447 . . . . . . . 0.0691 . intronic . 0.0295727 . . Name\x3dOREG1511283|N/A|EGR1|PAZAR . . . . . 0.0348 . -1 7 128482834 FLNC C T 5 0.00339457 0.0104 . MedGen:CN169374 not_specified Benign . . . 0.0176 . intronic . 0.0096635 . . Name\x3dOREG1511283|N/A|EGR1|PAZAR . . . . . 0.0114 Name\x3d97.784910 0 7 128482835 FLNC C T 4 0.0147764 0.0450 . MedGen:CN169374 not_specified Benign . . . 0.0454 . intronic . 0.0304265 . . Name\x3dOREG1511283|N/A|EGR1|PAZAR . . . . . 0.0352 Name\x3d97.784910 0 7 128483227 FLNC T C 34 0.361821 0.1734 . . . . . . . . . intronic . 0.223336 . . . . . . . . 0.1647 . -2 7 128483635 FLNC C T 1 0.000199681 . . . . . . . . . . intronic . 1.29e-05 . . Name\x3dOREG1511287|N/A|EGR1|PAZAR . . . 0.0012 0.008 . Name\x3d99.811524 4 7 128484373 FLNC T C 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . Name\x3dOREG1511287|N/A|EGR1|PAZAR . . . . . . Name\x3d95.841478 4 7 128484816 FLNC A G 34 0.379992 0.1725 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.1635 synonymous_SNV exonic . 0.227856 . . . . . . . . 0.1648 Name\x3d99.911154 -1 7 128484977 FLNC T G 1 0.000399361 0.0001 3.089 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310|MedGen:CN517202 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant|not_provided Uncertain_significance . . . 7.361e-05 nonsynonymous_SNV exonic . 7.76e-05 D . . . D T . . . Name\x3d99.903659 6 7 128485240 FLNC C T 2 0.00199681 0.0116 5.769 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0092 nonsynonymous_SNV exonic . 0.0064035 D . Name\x3dOREG1511289|N/A|EGR1|PAZAR . D D . . 0.0095 Name\x3d99.927642 6 7 128486091 FLNC C T 4 0.0197684 0.0451 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Benign . . . 0.0403 synonymous_SNV exonic . 0.0322117 . . Name\x3dOREG1511289|N/A|EGR1|PAZAR . . . . . 0.0345 Name\x3d99.724262 0 7 128486252 FLNC T TGGGCAGGTGGGCAGGGCC 8 0.158147 0.0410 . . . . . . . 0.0427 . intronic . 0.0023286 . . Name\x3dOREG1511289|N/A|EGR1|PAZAR . . . . . 0.0411 . -1 7 128486363 FLNC C T 35 0.346046 0.1723 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.1718 synonymous_SNV exonic . 0.221077 . . Name\x3dOREG1511289|N/A|EGR1|PAZAR . . . . . 0.1622 Name\x3d99.817214 1 7 128486412 FLNC G A 1 0.000798722 0.0001 5.915 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0013 nonsynonymous_SNV exonic . 0.000925 T . Name\x3dOREG1511289|N/A|EGR1|PAZAR . D T . . 0.0018 Name\x3d99.869129 5 7 128486446 FLNC C T 8 0.160543 0.0395 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0428 synonymous_SNV exonic . 0.0846626 . . Name\x3dOREG1511289|N/A|EGR1|PAZAR . . . . . 0.0401 Name\x3d99.751165 0 7 128486579 FLNC C T 2 0.0091853 0.0191 . . . . . . . . . intronic . 0.0028784 . . Name\x3dOREG1511289|N/A|EGR1|PAZAR . . . . . . Name\x3d95.382266 0 7 128487866 FLNC T C 214 0.990615 0.9999 . MedGen:CN169374 not_specified Benign . . . 0.9999 synonymous_SNV exonic . 0.942122 . . . . . . . . 1 Name\x3d99.845580 -1 7 128487893 FLNC G A 8 0.257788 0.0426 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0455 synonymous_SNV exonic . 0.115917 . . . . . . . . 0.0433 Name\x3d99.841626 -1 7 128488072 FLNC C T 1 0.000199681 . . . . . . . . 2.886e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.796056 3 7 128488734 FLNC G A 21 0.0625 0.0889 4.924 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0871 nonsynonymous_SNV exonic . 0.0760145 T . Name\x3dOREG1948233|N/A|ZNF263|PAZAR . D T . . 0.0850 Name\x3d99.753541 0 7 128488800 FLNC G A 4 0.0147764 0.0449 . . . . . . . 0.0402 . intronic . 0.0306206 . . Name\x3dOREG1948233|N/A|ZNF263|PAZAR . . . . . 0.0352 Name\x3d96.458778 0 7 128490012 FLNC C T 1 0.000798722 . . MedGen:CN169374 not_specified Likely_benign . . . 4.969e-05 . intronic . 0.0002199 . . Name\x3dOREG1511286|N/A|EGR1|PAZAR,OREG1948233|N/A|ZNF263|PAZAR . . . . . . Name\x3d99.629189 2 7 128490553 FLNC T C 37 0.403355 0.2066 . MedGen:CN169374 not_specified Benign . . . 0.1952 . intronic . 0.25347 . . Name\x3dOREG1511286|N/A|EGR1|PAZAR . . . . . 0.1900 . 0 7 128490926 FLNC C T 1 0.000599042 0.0002 5.676 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant Uncertain_significance . . . . nonsynonymous_SNV exonic . 6.47e-05 D . Name\x3dOREG1511286|N/A|EGR1|PAZAR . D D . . . Name\x3d99.911903 8 7 128491497 FLNC C T 4 0.0147764 0.0450 . MedGen:CN169374 not_specified Benign . . . 0.0402 . intronic . 0.0308534 . . . . . . 0.0004 0.03 0.0352 Name\x3d96.588695 -1 7 128491603 FLNC T C 8 0.288938 0.0430 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0458 synonymous_SNV exonic . 0.126001 . . . . . . . . 0.0448 Name\x3d99.571013 -1 7 128492817 FLNC G A 1 0.00399361 0.0103 . MedGen:CN169374 not_specified Benign . . . 0.0107 . intronic . 0.0075096 . . . . . . . . 0.0128 Name\x3d98.608845 -1 7 128492825 FLNC G A 1 0.00479233 0.0180 . MedGen:CN169374 not_specified Benign . . . 0.0191 . intronic . 0.0127295 . . . . . . . . 0.0172 Name\x3d97.784642 -1 7 128495338 FLNC C T 9 0.258786 0.0424 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0454 synonymous_SNV exonic . 0.117101 . . . . . . . . 0.0436 Name\x3d99.788221 -1 7 128497040 FLNC C T 1 0.00638978 0.0082 . . . . . . . . . intronic . 0.0014489 . . . . . . . . . Name\x3d95.648942 1 7 128498228 FLNC C T 1 0.000399361 0.0014 . 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:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . 0.0010 synonymous_SNV exonic . 4.53e-05 . . . . . . . . 0.0004 Name\x3d99.884349 1 7 128498630 FLNC TACACAC TACAC,T 1 0.0890575 0.1095 . . . . . . . . . UTR3 . 0.0001537 . . . . . . . . . Name\x3d99.391891 -1 7 136699781 CHRM2 G A 1 0.000199681 6.494e-05 4.382 . . . . . . 7.369e-05 nonsynonymous_SNV exonic . 6.47e-05 T . . . D T . . . Name\x3d99.221010 5 7 136700303 CHRM2 G A 1 0.000998403 0.0066 2.077 MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0044 nonsynonymous_SNV exonic . 0.0031694 T . . . B T . . 0.0049 Name\x3d98.373524 4.5 7 136700385 CHRM2 A G 1 0.000998403 0.0008 -1.074 MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0019 nonsynonymous_SNV exonic . 0.0014165 T . . . B T . . 0.0017 Name\x3d98.345054 4.5 7 136700726 CHRM2 C G 1 0.000399361 0.0014 0.481 MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . 0.0019 nonsynonymous_SNV exonic . 0.0011707 T . . . B T . . 0.0016 Name\x3d99.064361 4.5 7 150644388 KCNH2 C G 1 0.000399361 0.0004 . . . . . . . . . intronic . 1.94e-05 . . . . . . . . . Name\x3d95.455739 5 7 150644394 KCNH2 C T 50 0.385583 0.2218 . . . . . . . 0.3438 . intronic . 0.119759 . . . . . . . . 0.1625 Name\x3d97.052835 1 7 150644428 KCNH2 C A 3 0.00898562 0.0355 5.379 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 Torsades_de_pointes|Long_QT_syndrome|Cardiac_arrhythmia|Sudden_unexplained_death|Long_QT_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.015 nonsynonymous_SNV exonic . 0.0071927 T . . . B T . . 0.0178 Name\x3d99.914344 1 7 150644755 KCNH2 C T 1 0.000199681 6.494e-05 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 6.178e-05 synonymous_SNV exonic . 3.88e-05 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.875936 6 7 150644866 KCNH2 C T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.931807 6 7 150644890 KCNH2 C G 1 0.000199681 . . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Likely_benign . . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.891142 6 7 150645015 KCNH2 G A 1 0.000599042 0.0018 . . . . . . . . . intronic . 0.0001682 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.463811 4 7 150645023 KCNH2 G A 20 0.174121 0.1144 . . . . . . . . . intronic . 0.0226776 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d98.088842 2 7 150645534 KCNH2 T G 63 0.136182 0.2613 2.039 EFO:EFO_0000275,Human_Phenotype_Ontology:HP:0005110,MedGen:C0004238|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Atrial_fibrillation|Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.2327 nonsynonymous_SNV exonic rs1805123|Body-mass-index||3E-13|PMID:30595370 0.181039 T . Name\x3dOREG1195933|N/A|TFAP2C|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR . P T . 0.024 0.2326 Name\x3d99.935937 3.5 7 150645682 KCNH2 G A 134 0.709465 0.5611 . . . . . . . 0.5609 . intronic . 0.002749 . . Name\x3dOREG1195933|N/A|TFAP2C|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.5610 Name\x3d98.570218 2 7 150647569 KCNH2 T C 138 0.754992 0.5999 . . . . . . . . . intronic . 0.0199785 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d98.442207 2 7 150647969 KCNH2 C T 67 0.273762 0.2588 . . . . . . . 0.2644 . intronic rs2072413|QT-interval|1.534928|3E-10|PMID:31217584 0.233302 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.2281 Name\x3d97.922226 2 7 150647970 KCNH2 C G 67 0.273762 0.2591 . . . . . . . 0.2650 . intronic . 0.233516 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.2324 Name\x3d97.922226 2 7 150648198 KCNH2 A G 138 0.772165 0.6011 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.5985 synonymous_SNV exonic . 0.652417 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.5898 Name\x3d99.928297 2 7 150648229 KCNH2 G A 1 0.00239617 6.495e-05 . . . . . . . 5.934e-05 . intronic . 0.0004269 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.854819 4 7 150648789 KCNH2 T C 76 0.608427 0.3831 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign Name\x3dENSR00001133220|Enhancer . . 0.3749 synonymous_SNV exonic . 0.464567 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.3601 Name\x3d99.937504 3 7 150648986 KCNH2 G C 78 0.431709 0.3306 . . . . Name\x3dENSR00001133220|Enhancer . . . . intronic . 0.0001153 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d95.811896 3 7 150649531 KCNH2 G A 50 0.341653 0.2216 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.2205 synonymous_SNV exonic . 0.281769 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518326|N/A|EGR1|PAZAR . . . . . 0.2133 Name\x3d99.935941 2 7 150649542 KCNH2 G A 1 0.000599042 0.0014 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0015 synonymous_SNV exonic . 0.0013842 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518326|N/A|EGR1|PAZAR . . . . . 0.0017 Name\x3d99.937377 4 7 150649603 KCNH2 G A 51 0.342652 0.2227 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.2197 synonymous_SNV exonic . 0.281238 . . Name\x3dOREG1518326|N/A|EGR1|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.2135 Name\x3d99.936884 2 7 150649984 KCNH2 G C 1 0.000199681 0.0001 . . . . . . . 9.612e-05 . intronic . 5.17e-05 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518326|N/A|EGR1|PAZAR . . . . . 0.0003 Name\x3d98.858473 6 7 150652419 KCNH2 T C 20 0.133786 0.1128 . . . . Name\x3dENSR00000843775|Promoter . . . . intronic . 0.0205172 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR . . . . . . Name\x3d99.455927 3 7 150652420 KCNH2 G A 1 0.000199681 0.0005 . . . . Name\x3dENSR00000843775|Promoter . . . . intronic . 0.0001537 . . Name\x3dOREG1518324|N/A|EGR1|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.455927 5 7 150654622 KCNH2 A AG 214 1 1 . . . . . . . 1 . intronic . 0.0001682 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR . . . . . 0.9988 Name\x3d99.133938 2 7 150655624 KCNH2 T C 70 0.501797 0.3342 . . . . . Name\x3dTEAD4::MAX|ENSPFM0565|ENSM00196668572|11.0508198118 . 0.3456 . intronic . 0.146311 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR . . . . . 0.2406 Name\x3d98.995433 4 7 150655643 KCNH2 G A 70 0.4998 0.3343 . . . . . . . . . intronic . 0.0660535 . . Name\x3dOREG1518324|N/A|EGR1|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.114841 3 7 150656690 KCNH2 G A 1 0.000599042 0.0006 4.974 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0015 nonsynonymous_SNV exonic . 0.0009702 D . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR . B D . . 0.0019 Name\x3d99.909359 7 7 150671769 KCNH2 G A 1 0.0215655 0.0028 . . . . Name\x3dENSR00000843782|Promoter . . 0.0094 . intronic . 0.0047865 . . Name\x3dOREG1195931|N/A|TFAP2C|PAZAR,OREG1518323|N/A|EGR1|PAZAR . . . . . 0.0025 Name\x3d99.825010 3 7 150671772 KCNH2 C G 1 0.00219649 0.0034 . . . . Name\x3dENSR00000843782|Promoter . . 0.0047 . intronic . 0.0008667 . . Name\x3dOREG1518323|N/A|EGR1|PAZAR,OREG1195931|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.580146 5 7 150671793 KCNH2 T C 1 0.000199681 . . . . . Name\x3dENSR00000843782|Promoter . . . . intronic . 6.5e-06 . . Name\x3dOREG1518323|N/A|EGR1|PAZAR,OREG1195931|N/A|TFAP2C|PAZAR . . . . 0.064 . Name\x3d99.886612 7 7 150675078 KCNH2 C G 1 0.000199681 . . . . . Name\x3dENSR00000219763|Promoter . . . . UTR5 . 3.84e-05 . . . . . . . . . Name\x3d99.855006 6 7 151254175 PRKAG2 T C 139 0.554313 0.6412 . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN239247 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Likely_benign . . . . . UTR3 . 0.120975 . . . . . . . . . Name\x3d99.634026 -1 7 151254231 PRKAG2 C T 3 0.00519169 0.0069 . . . . . . . . . UTR3 . 0.0014036 . . . . . . . . 0.0082 Name\x3d99.779129 5 7 151254443 PRKAG2 G A 8 0.0131789 0.0439 . . . . . . . . . intronic . 0.0040038 . . . . . . . . . Name\x3d96.862168 -1 7 151254445 PRKAG2 T C 139 0.540136 0.6415 . . . . . . . . . intronic . 0.0066851 . . . . . . . . . Name\x3d96.862168 -1 7 151262385 PRKAG2 T C 8 0.0171725 0.0331 . . . . . . . 0.0427 . intronic . 0.0240165 . . . . . . . . 0.0316 Name\x3d98.515273 -1 7 151262528 PRKAG2 A C 1 0.00239617 0.0008 . . . . . . . . . intronic . 0.001191 . . . . . . . . . Name\x3d96.112605 1 7 151267237 PRKAG2 GA GAA 2 . . . . . . . . . . . intronic . . . . . . . . . . . Name\x3d99.488128 5 7 151267292 PRKAG2 T A 1 0.000199681 . . MedGen:CN169374 not_specified Likely_benign . . . 3.699e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.871140 3 7 151267353 PRKAG2 G A 23 0.144169 0.1206 . MedGen:CN169374 not_specified Benign . . . 0.1170 . intronic . 0.136803 . . . . . . . . 0.1105 Name\x3d99.186830 -1 7 151267397 PRKAG2 G A 40 0.242412 0.2441 . . . . . . . . . intronic . 0.0458597 . . . . . . . . . Name\x3d98.575774 -1 7 151269890 PRKAG2 T A 23 0.147764 0.1203 . . . . . . . . . intronic . 0.0247668 . . . . . . . . . Name\x3d97.272002 -1 7 151269916 PRKAG2 C T 23 0.147764 0.1206 . . . . . . . . . intronic . 0.13182 . . . . . . . . . Name\x3d97.077991 -1 7 151292395 PRKAG2 A AT 156 0.804712 0.7260 . MedGen:CN169374 not_specified Likely_benign . . . 0.7366 . intronic . 0.0997335 . . . . . . . . 0.7284 . -2 7 151292609 PRKAG2 G A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 7 151292614 PRKAG2 C T 1 0.000199681 0.0002 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 7 151329345 PRKAG2 G A 2 0.0547125 0.0044 . . . . Name\x3dENSR00000219874|Promoter . . . . intronic . 0.0203627 . . Name\x3dOREG1488555|N/A|EGR1|PAZAR,OREG1168528|N/A|TFAP2C|PAZAR,OREG1220169|N/A|SMARCA4|PAZAR,OREG1250294|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.612887 1 7 151372472 PRKAG2 C T 1 0.000399361 0.0016 . . . . . . . 0.0011 . intronic . 0.0008926 . . . . . . . . 0.0008 Name\x3d97.049855 1 7 151372744 PRKAG2 A G 1 0.061901 0.0138 . MedGen:CN517202 not_provided Benign . . . 0.0152 . intronic . 0.025653 . . . . . . . . 0.0120 Name\x3d96.103704 -1 7 151478187 PRKAG2 A G 10 0.0157748 0.0502 . . . . . . . 0.0487 . intronic . 0.0338288 . . . . . . . . 0.0491 Name\x3d96.281282 -1 7 151478227 PRKAG2 C G 1 0.000199681 . . . . . . . . 5.537e-05 . intronic . 2.59e-05 . . . . . . . . . Name\x3d99.718785 3 7 151483608 PRKAG2 A T 1 0.000199681 . 3.373 . . . . . . 4.448e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D D . . . Name\x3d99.857256 6 7 151573549 PRKAG2 G A 7 0.0587061 0.0408 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000219921|Promoter . . 0.0451 . intronic . 0.0548052 . . Name\x3dOREG1488557|N/A|EGR1|PAZAR,OREG1168526|N/A|TFAP2C|PAZAR . . . . . 0.0434 Name\x3d99.804895 1 7 151573580 PRKAG2 G A 7 0.0277556 0.0809 . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247|MedGen:CN517202 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|not_provided Benign/Likely_benign Name\x3dENSR00000219921|Promoter . . 0.0701 . intronic . 0.0508338 . . Name\x3dOREG1488557|N/A|EGR1|PAZAR,OREG1168526|N/A|TFAP2C|PAZAR . . . . . 0.0769 Name\x3d99.665623 1 7 151573731 PRKAG2 G A 26 0.188898 0.1319 . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247|MedGen:CN517202 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|not_provided Benign/Likely_benign Name\x3dENSR00000219921|Promoter . . 0.1273 . UTR5 . 0.162378 . . Name\x3dOREG1488557|N/A|EGR1|PAZAR,OREG1168526|N/A|TFAP2C|PAZAR . . . . . 0.1259 Name\x3d99.865855 1 8 11566168 GATA4 C T 1 0.000199681 . 3.029 . . . Name\x3dENSR00000847833|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1490706|N/A|EGR1|PAZAR . P T . . . Name\x3d99.929428 5 8 11606364 GATA4 G C 23 0.0493211 0.1876 . MedGen:C0152021,SNOMED_CT:13213009 Congenital_heart_disease Pathogenic . . . . . intronic . 0.0242494 . . Name\x3dOREG1490707|N/A|EGR1|PAZAR . . . . . . . -1 8 11607658 GATA4 C T 1 0.00179712 0.0040 . 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 Primary_dilated_cardiomyopathy|Tetralogy_of_Fallot|Atrial_septal_defect_2|Ventricular_septal_defect_1|Atrioventricular_septal_defect_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0030 synonymous_SNV exonic . 0.0025226 . . . . . . . . 0.0040 Name\x3d99.937562 1 8 11607693 GATA4 C T 1 0.000599042 . 6.411 . . . . . . 7.391e-05 nonsynonymous_SNV exonic . 6.47e-05 D . . . P D . . . Name\x3d99.900424 4 8 11612512 GATA4 C T 1 0.000199681 6.483e-05 . . . . . . . 0.0001 . intronic . 7.12e-05 . . . . . . . . . Name\x3d96.931764 3 8 11612519 GATA4 A C 1 0.000199681 . . . . . . . . 2.242e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d96.931764 3 8 11612665 GATA4 A T 1 0.0233626 0.0003 . . . . Name\x3dENSR00000847839|TF_binding_site . . 0.0005 . intronic . 0.0062936 . . . . . . . . 0.0003 Name\x3d98.612892 0 8 11612698 GATA4 C A 119 0.734425 0.5737 . MedGen:C0152021,SNOMED_CT:13213009|MedGen:CN517202 Congenital_heart_disease|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000847839|TF_binding_site . . . . intronic rs804280|General-factor-of-neuroticism|0.01055|1E-9|PMID:30867560 0.123737 . . . . . . . . 0.5839 Name\x3d97.533169 2 8 11614575 GATA4 A G 21 0.0429313 0.1589 0.793 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign Name\x3dENSR00000847840|TF_binding_site . . 0.1328 nonsynonymous_SNV exonic . 0.0944554 T . . . B T . . 0.14 Name\x3d99.865437 1.5 8 11616015 GATA4 C T 1 0.000199681 0.0006 . . . . . . . 0.0001 . UTR3 . 0.0001294 . . . . . . . . 0.0001 Name\x3d99.602493 1 8 74888494 TMEM70 C T 61 0.216653 0.2985 . MedGen:CN239153 Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign Name\x3dENSR00000225937|Promoter . . 0.3696 . UTR5 . 0.254518 . . Name\x3dOREG1275624|N/A|SMARCA4|PAZAR,OREG1243960|N/A|SMARCA4|PAZAR,OREG1483664|N/A|E2F4|PAZAR . . . . . 0.2945 Name\x3d98.505951 1 8 74888616 TMEM70 G C 42 0.176118 0.1276 2.230 MedGen:CN169374|MedGen:CN239153|MedGen:CN517202 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided Benign Name\x3dENSR00000225937|Promoter . . 0.1656 nonsynonymous_SNV exonic . 0.0007309 T . Name\x3dOREG1483664|N/A|E2F4|PAZAR,OREG1275624|N/A|SMARCA4|PAZAR,OREG1243960|N/A|SMARCA4|PAZAR . D T . . 0.1301 Name\x3d99.798051 1 8 74890961 TMEM70 A G 106 0.477835 0.4486 . . . . Name\x3dENSR00000225937|Promoter . . 0.4595 . intronic . 0.0025679 . . . . . . . . 0.4551 . -1 8 74890985 TMEM70 C T 2 0.000599042 0.0035 . MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000225937|Promoter . . 0.0042 . intronic . 0.002859 . . . . . . . 0.008 0.0040 Name\x3d98.973845 2 8 74891164 TMEM70 A G 42 0.186102 0.1276 . . . . Name\x3dENSR00000225937|Promoter . . . . intronic . 0.0274964 . . . . . . . . . . -1 8 74893419 TMEM70 C G 3 0.0227636 0.0215 -2.907 MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153|MedGen:CN517202 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided Benign/Likely_benign . . . 0.0206 nonsynonymous_SNV exonic . 0.0223218 T . . . B T . . 0.0177 Name\x3d99.302981 0.5 8 74893653 TMEM70 G A 5 0.0071885 0.0172 0.759 MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN517202 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|not_provided Benign . . Name\x3dMIMAT0000432|hsa-miR-141-3p|Experimental,MIMAT0002816|hsa-miR-494-3p|Experimental,MIMAT0000682|hsa-miR-200a-3p|Experimental 0.0174 nonsynonymous_SNV exonic . 0.0122896 T . . . P D . . 0.0156 Name\x3d99.338101 0 8 74893727 TMEM70 A G 1 0.000199681 0.0003 . . . . . . Name\x3dMIMAT0000426|hsa-miR-132-3p|Experimental 0.0002 synonymous_SNV exonic . 9.06e-05 . . . . . . . . . Name\x3d99.245887 4 8 74893821 TMEM70 A G 45 0.258986 0.1503 -3.329 MedGen:CN169374|MedGen:CN239153|MedGen:CN517202 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided Benign . . . 0.1586 nonsynonymous_SNV exonic . 0.195114 T . . . B T . . 0.1556 Name\x3d98.679883 0.5 8 74893839 TMEM70 C T 1 0.000199681 . -1.050 . . . . . . 5.561e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . B T . . . Name\x3d98.653535 4.5 8 74893850 TMEM70 C G 45 0.258986 0.1503 -1.736 MedGen:CN169374|MedGen:CN239153|MedGen:CN517202 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided Benign . . . 0.1589 nonsynonymous_SNV exonic . 0.192999 T . . . B T . . 0.1556 Name\x3d98.677492 0.5 8 74893880 TMEM70 C T 106 0.47504 0.4498 . MedGen:CN239153 Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign . . Name\x3dMIMAT0000418|hsa-miR-23b-3p|Experimental,MIMAT0000078|hsa-miR-23a-3p|Experimental 0.4710 . UTR3 . 0.459774 . . . . . . . . 0.4513 Name\x3d95.799980 0 9 7161999 KDM4C A C 6 0.00599042 0.0156 . . . . . . . . . intronic . 0.0121024 . . . . . . . . . . -2 9 7162001 KDM4C CT C 2 0.000798722 0.0011 . . . . . . . . . intronic . 0.0003074 . . . . . . . . . . 0 9 7162074 KDM4C A C 5 0.0061901 0.0123 . . . . . . . . . intronic . 0.0112571 . . . . . . . . . . -2 9 7162249 KDM4C C G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 9 7162351 KDM4C G A 73 0.126797 0.1884 . . . . . . . . . intronic . 0.167704 . . . . . . . . . . -2 9 7162437 KDM4C G A 1 0.000199681 0.0005 . . . . . . . . . intronic . 0.0006147 . . . . . . . . . . 0 9 71650692 FXN G A 9 0.00758786 0.0292 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign Name\x3dENSR00000235547|Promoter . . 0.0262 . UTR5 . 0.0045601 . . Name\x3dOREG1900099|N/A|STAT1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1187779|N/A|TFAP2C|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.411050 3 9 71650752 FXN A G 214 0.984824 0.9999 . MedGen:C1856689,OMIM:229300|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Friedreich_ataxia_1|not_specified|Cardiovascular_phenotype|not_provided Benign Name\x3dENSR00000235547|Promoter . . 1 synonymous_SNV exonic . 0.273865 . . Name\x3dOREG1900099|N/A|STAT1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1187779|N/A|TFAP2C|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.530374 3 9 71650878 FXN C T 1 0.00119808 . . . . . Name\x3dENSR00000235547|Promoter . . . . intronic . 0.0001164 . . Name\x3dOREG1187779|N/A|TFAP2C|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR,OREG1481069|N/A|E2F4|PAZAR,OREG1900099|N/A|STAT1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1551842|N/A|ETS1|PAZAR . . . . . . Name\x3d99.574388 5 9 71650906 FXN G GGCCGCAC 4 0.00339457 0.0096 . . . . Name\x3dENSR00000235547|Promoter . . . . intronic . 0.0004722 . . Name\x3dOREG1551842|N/A|ETS1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1900099|N/A|STAT1|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR,OREG1187779|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.638668 9 9 71661314 FXN G A 1 0.00179712 . -0.060 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 1.865e-05 nonsynonymous_SNV exonic . 0.0002975 T . . . B T . . . Name\x3d98.940842 4.5 9 71667986 FXN G A 86 0.349241 0.4445 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . Name\x3d95.008776 1 9 71668197 FXN T C 120 0.501597 0.5127 . . . . . . . 0.5329 . intronic . 0.513253 . . . . . . . . 0.5149 Name\x3d97.951041 1 9 71680034 FXN C T 1 0.000998403 0.0016 . . . . . . . . . intronic . 0.0004334 . . . . . . . . . . 2 9 71687440 FXN C T 91 0.467053 0.3999 . . . . . . . . . intronic . 0.0843585 . . . . . . . . . . 0 9 71687451 FXN G A 1 0.000998403 0.0033 . . . . . . . . . intronic . 0.0003622 . . . . . . . . . Name\x3d95.314843 3 9 103340369 CAVIN4 G A 84 0.302915 0.4305 . . . . Name\x3dENSR00000888957|Promoter . . . . UTR5 . 0.0763574 . . . . . . . . . . 0 9 103340875 CAVIN4 T C 65 0.210663 0.3442 . . . . Name\x3dENSR00000888957|Promoter . . 0.3237 . intronic . 0.281607 . . . . . . . . 0.3068 . 0 9 103348157 CAVIN4 G C 1 0.000199681 0.0006 . MedGen:CN169374 not_specified Likely_benign . . . 0.0007 synonymous_SNV exonic . 0.0003687 . . . . . . . . 0.0005 Name\x3d98.166246 1 9 103348208 CAVIN4 A T 4 0.117812 0.0216 . MedGen:CN169374 not_specified Benign . . . 0.0244 synonymous_SNV exonic . 0.0598957 . . . . . . . . 0.0236 Name\x3d98.394332 -1 9 103348340 CAVIN4 A G 2 0.000998403 . . . . . . . . . synonymous_SNV exonic . 0.0003752 . . . . . . . . . Name\x3d98.012559 1 9 103348343 CAVIN4 G A 2 0.000998403 . . . . . . . . . synonymous_SNV exonic . 0.0002846 . . . . . . . . . Name\x3d98.325290 1 9 103348352 CAVIN4 A G 2 0.00119808 . . . . . . . . . synonymous_SNV exonic . 0.0002523 . . . . . . . . . Name\x3d98.428835 1 9 103348538 CAVIN4 C T 1 0.000199681 0.0002 . . . . . . . 0.0003 synonymous_SNV exonic . 0.0002005 . . . . . . . . 0.0005 Name\x3d95.576170 1 9 103348634 CAVIN4 G A 84 0.293331 0.4275 . MedGen:CN169374 not_specified Benign . . . 0.4021 synonymous_SNV exonic . 0.370396 . . . . . . . . 0.4166 Name\x3d95.267874 1 9 108363426 FKTN C T 8 0.0103834 0.0245 5.704 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222 Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0389 nonsynonymous_SNV exonic . 0.0183503 D . . . D D 0.9959 0.826 0.0283 Name\x3d99.186017 8 9 108366499 FKTN G A 1 0.0371406 0.0107 1.784 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0106 nonsynonymous_SNV exonic . 0.015569 T . . . P T . . 0.0114 Name\x3d99.128450 2.5 9 108366734 FKTN G A 55 0.158147 0.3227 3.672 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 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 Benign/Likely_benign . . . 0.3049 nonsynonymous_SNV exonic . 0.248975 T . . . P T . . 0.3190 Name\x3d99.339457 3.5 9 108370163 FKTN C G 1 0.000199681 . 2.079 . . . . . Name\x3dMIMAT0000093|hsa-miR-93-5p|Experimental . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . Name\x3d99.048201 7.5 9 108380223 FKTN T A 2 0.000399361 . . . . . . . . 0.0003 . intronic . 9.06e-05 . . . . . . . . . . 4 9 108380355 FKTN C A 55 0.178315 0.3218 . 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.3055 synonymous_SNV exonic . 0.0016688 . . . . . . . . 0.3177 Name\x3d98.998867 1 9 108380417 FKTN A G 4 0.0113818 0.0384 . MedGen:CN169374 not_specified Benign . . . 0.0406 . intronic . 0.0275288 . . . . . . . . 0.0375 . 0 9 108397426 FKTN T C 1 0.000199681 . 6.116 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.295213 11 9 131707989 DOLK G A 1 0.000199681 . 1.384 . . . . . Name\x3dMIMAT0000414|hsa-let-7g-5p|Experimental,MIMAT0000062|hsa-let-7a-5p|Experimental,MIMAT0000067|hsa-let-7f-5p|Experimental,MIMAT0000065|hsa-let-7d-5p|Experimental,MIMAT0000064|hsa-let-7c-5p|Experimental,MIMAT0000066|hsa-let-7e-5p|Experimental,MIMAT0000063|hsa-let-7b-5p|Experimental,MIMAT0000096|hsa-miR-98-5p|Experimental 1.84e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D T . . . Name\x3d97.807201 9 9 131708145 DOLK T C 1 0.000199681 0.0001 0.079 MedGen:CN517202 not_provided Uncertain_significance . . . 5.52e-05 nonsynonymous_SNV exonic . 9.06e-05 T . . . B T . . 0.0001 Name\x3d98.425746 6.5 9 131708504 DOLK T C 1 0.000798722 0.0005 3.446 MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374 Congenital_disorder_of_glycosylation_type_1M|not_specified Likely_benign . . . 0.0018 nonsynonymous_SNV exonic . 0.0013325 T . . . D D . . 0.0009 Name\x3d98.593310 6 9 131708883 DOLK T C 1 0.000998403 0.0018 -0.828 MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374|MedGen:CN517202 Congenital_disorder_of_glycosylation_type_1M|not_specified|not_provided Uncertain_significance Name\x3dENSR00000241930|Promoter . . 0.0020 nonsynonymous_SNV exonic . 0.0011643 T . Name\x3dOREG1253658|N/A|SMARCA4|PAZAR . B T . . 0.0014 Name\x3d97.681988 6.5 9 131709581 DOLK A AT 1 0.00259585 0.0097 . MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374|MedGen:CN517202 Congenital_disorder_of_glycosylation_type_1M|not_specified|not_provided Benign/Likely_benign Name\x3dENSR00000241930|Promoter . . 0.0139 frameshift_insertion exonic . 0.0001552 . . Name\x3dOREG1253658|N/A|SMARCA4|PAZAR,OREG1792595|N/A|RBL2|PAZAR,OREG1492173|N/A|EGR1|PAZAR,OREG1171895|N/A|TFAP2C|PAZAR,OREG1223386|N/A|SMARCA4|PAZAR,OREG1798525|N/A|RBL2|PAZAR . . . . . 0.0092 Name\x3d98.197933 11