annotate snpSift_dbnsfp.xml @ 4:772825adad2f draft default tip

planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpsift/snpsift_dbnsfp commit 93465571cf180554c3548338a68fa0f1604985dc-dirty
author jjohnson
date Sat, 09 Apr 2016 11:54:31 -0400
parents b5e03b2cb813
children
Ignore whitespace changes - Everywhere: Within whitespace: At end of lines:
rev   line source
3
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
1 <tool id="snpSift_dbnsfp" name="SnpSift dbNSFP" version="@WRAPPER_VERSION@.0">
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
2 <description>Add Annotations from dbNSFP or similar annotation DBs</description>
0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
3 <macros>
3
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
4 <import>snpSift_macros.xml</import>
0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
5 </macros>
3
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
6 <expand macro="requirements" />
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
7 <expand macro="stdio" />
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
8 <expand macro="version_command" />
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
9 <command><![CDATA[
4
772825adad2f planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpsift/snpsift_dbnsfp commit 93465571cf180554c3548338a68fa0f1604985dc-dirty
jjohnson
parents: 3
diff changeset
10 java -Xmx6G -jar "\$SNPEFF_JAR_PATH/SnpSift.jar" dbnsfp -v
772825adad2f planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpsift/snpsift_dbnsfp commit 93465571cf180554c3548338a68fa0f1604985dc-dirty
jjohnson
parents: 3
diff changeset
11 #if $db.dbsrc == 'cached':
772825adad2f planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpsift/snpsift_dbnsfp commit 93465571cf180554c3548338a68fa0f1604985dc-dirty
jjohnson
parents: 3
diff changeset
12 -db "$db.dbnsfp"
772825adad2f planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpsift/snpsift_dbnsfp commit 93465571cf180554c3548338a68fa0f1604985dc-dirty
jjohnson
parents: 3
diff changeset
13 #if $db.annotations and str($db.annotations) != '':
0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
14 -f "$db.annotations"
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
15 #end if
4
772825adad2f planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpsift/snpsift_dbnsfp commit 93465571cf180554c3548338a68fa0f1604985dc-dirty
jjohnson
parents: 3
diff changeset
16 #else:
0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
17 -db "${db.dbnsfpdb.extra_files_path}/${db.dbnsfpdb.metadata.bgzip}"
4
772825adad2f planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpsift/snpsift_dbnsfp commit 93465571cf180554c3548338a68fa0f1604985dc-dirty
jjohnson
parents: 3
diff changeset
18 #if $db.annotations and str($db.annotations) != '':
0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
19 -f "$db.annotations"
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
20 #end if
4
772825adad2f planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpsift/snpsift_dbnsfp commit 93465571cf180554c3548338a68fa0f1604985dc-dirty
jjohnson
parents: 3
diff changeset
21 #end if
772825adad2f planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpsift/snpsift_dbnsfp commit 93465571cf180554c3548338a68fa0f1604985dc-dirty
jjohnson
parents: 3
diff changeset
22 "$input" > "$output"
3
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
23 2> tmp.err && grep -v file tmp.err
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
24 ]]>
0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
25 </command>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
26 <inputs>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
27 <param name="input" type="data" format="vcf" label="Variant input file in VCF format"/>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
28 <conditional name="db">
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
29 <param name="dbsrc" type="select" label="dbNSFP ">
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
30 <option value="cached">Locally installed dbNSFP database </option>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
31 <option value="history">dbNSFP database from your history</option>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
32 </param>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
33 <when value="cached">
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
34 <param name="dbnsfp" type="select" label="Genome">
3
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
35 <options from_data_table="snpsift_dbnsfps">
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
36 <column name="name" index="2"/>
2
c56e27adfbff Add a build field in the tool-data to allow for filtering on genome build
Jim Johnson <jj@umn.edu>
parents: 0
diff changeset
37 <column name="value" index="3"/>
0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
38 </options>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
39 </param>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
40 <param name="annotations" type="select" multiple="true" display="checkboxes" label="Annotate with">
3
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
41 <options from_data_table="snpsift_dbnsfps">
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
42 <column name="name" index="4"/>
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
43 <column name="value" index="4"/>
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
44 <filter type="param_value" ref="dbnsfp" column="3" />
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
45 <filter type="multiple_splitter" column="4" separator=","/>
0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
46 </options>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
47 </param>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
48 </when>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
49 <when value="history">
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
50 <param name="dbnsfpdb" type="data" format="snpsiftdbnsfp" label="DbNSFP"/>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
51 <param name="annotations" type="select" multiple="true" display="checkboxes" label="Annotate with">
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
52 <options>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
53 <filter type="data_meta" ref="dbnsfpdb" key="annotation" />
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
54 </options>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
55 </param>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
56 </when>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
57 </conditional>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
58 </inputs>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
59 <outputs>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
60 <data format="vcf" name="output" />
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
61 </outputs>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
62 <tests>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
63 <test>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
64 <param name="input" ftype="vcf" value="test_annotate_in.vcf.vcf"/>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
65 <param name="dbsrc" value="history"/>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
66 <param name="dbnsfpdb" value="test_dbnsfpdb.tabular" ftype="dbnsfp.tabular" />
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
67 <annotations value="aaref,aaalt,genename,aapos,SIFT_score"/>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
68 <output name="output">
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
69 <assert_contents>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
70 <has_text text="dbNSFP_SIFT_score=0.15" />
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
71 </assert_contents>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
72 </output>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
73 </test>
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
74 </tests>
3
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
75 <help><![CDATA[
0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
76
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
77 The dbNSFP is an integrated database of functional predictions from multiple algorithms (SIFT, Polyphen2, LRT and MutationTaster, PhyloP and GERP++, etc.).
3
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
78 It contains variant annotations such as:
0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
79
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
80
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
81 1000Gp1_AC
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
82 Alternative allele counts in the whole 1000 genomes phase 1 (1000Gp1) data
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
83 1000Gp1_AF
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
84 Alternative allele frequency in the whole 1000Gp1 data
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
85 1000Gp1_AFR_AC
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
86 Alternative allele counts in the 1000Gp1 African descendent samples
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
87 1000Gp1_AFR_AF
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
88 Alternative allele frequency in the 1000Gp1 African descendent samples
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
89 1000Gp1_AMR_AC
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
90 Alternative allele counts in the 1000Gp1 American descendent samples
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
91 1000Gp1_AMR_AF
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
92 Alternative allele frequency in the 1000Gp1 American descendent samples
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
93 1000Gp1_ASN_AC
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
94 Alternative allele counts in the 1000Gp1 Asian descendent samples
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
95 1000Gp1_ASN_AF
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
96 Alternative allele frequency in the 1000Gp1 Asian descendent samples
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
97 1000Gp1_EUR_AC
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
98 Alternative allele counts in the 1000Gp1 European descendent samples
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
99 1000Gp1_EUR_AF
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
100 Alternative allele frequency in the 1000Gp1 European descendent samples
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
101 aaalt
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
102 Alternative amino acid. "." if the variant is a splicing site SNP (2bp on each end of an intron)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
103 aapos
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
104 Amino acid position as to the protein. "-1" if the variant is a splicing site SNP (2bp on each end of an intron)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
105 aapos_SIFT
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
106 ENSP id and amino acid positions corresponding to SIFT scores. Multiple entries separated by ";"
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
107 aapos_FATHMM
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
108 ENSP id and amino acid positions corresponding to FATHMM scores. Multiple entries separated by ";"
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
109 aaref
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
110 Reference amino acid. "." if the variant is a splicing site SNP (2bp on each end of an intron)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
111 alt
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
112 Alternative nucleotide allele (as on the + strand)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
113 Ancestral_allele
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
114 Ancestral allele (based on 1000 genomes reference data)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
115 cds_strand
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
116 Coding sequence (CDS) strand (+ or -)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
117 chr
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
118 Chromosome number
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
119 codonpos
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
120 Position on the codon (1, 2 or 3)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
121 Ensembl_geneid
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
122 Ensembl gene ID
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
123 Ensembl_transcriptid
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
124 Ensembl transcript IDs (separated by ";")
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
125 ESP6500_AA_AF
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
126 Alternative allele frequency in the African American samples of the NHLBI GO Exome Sequencing Project (ESP6500 data set)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
127 ESP6500_EA_AF
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
128 Alternative allele frequency in the European American samples of the NHLBI GO Exome Sequencing Project (ESP6500 data set)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
129 FATHMM_pred
3
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
130 If a FATHMM_score is <=-1.5 (or rankscore <=0.81415) the corresponding non-synonymous SNP is predicted as "D(AMAGING)"; otherwise it is predicted as "T(OLERATED)". Multiple predictions separated by ";"
0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
131 FATHMM_rankscore
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
132 FATHMMori scores were ranked among all FATHMMori scores in dbNSFP. The rankscore is the ratio of the rank of the score over the total number of FATHMMori scores in dbNSFP. If there are multiple scores, only the most damaging (largest) rankscore is presented. The scores range from 0 to 1
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
133 FATHMM_score
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
134 FATHMM default score (FATHMMori)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
135 fold-degenerate
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
136 Degenerate type (0, 2 or 3)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
137 genename
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
138 Gene name; if the non-synonymous SNP can be assigned to multiple genes, gene names are separated by ";"
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
139 GERP++_NR
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
140 GERP++ neutral rate
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
141 GERP++_RS
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
142 GERP++ RS score, the larger the score, the more conserved the site
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
143 GERP++_RS_rankscore
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
144 GERP++ RS scores were ranked among all GERP++ RS scores in dbNSFP. The rankscore is the ratio of the rank of the score over the total number of GERP++ RS scores in dbNSFP
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
145 hg18_pos(1-coor)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
146 Physical position on the chromosome as to hg18 (1-based coordinate)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
147 Interpro_domain
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
148 Domain or conserved site on which the variant locates
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
149 LR_pred
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
150 Prediction of our LR based ensemble prediction score, "T(olerated)" or "D(amaging)". The score cutoff between "D" and "T" is 0.5. The rankscore cutoff between "D" and "T" is 0.82268
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
151 LR_rankscore
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
152 LR scores were ranked among all LR scores in dbNSFP. The rankscore is the ratio of the rank of the score over the total number of LR scores in dbNSFP. The scores range from 0 to 1
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
153 LR_score
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
154 Our logistic regression (LR) based ensemble prediction score, which incorporated 10 scores (SIFT, PolyPhen-2 HDIV, PolyPhen-2 HVAR, GERP++, MutationTaster, Mutation Assessor, FATHMM, LRT, SiPhy, PhyloP) and the maximum frequency observed in the 1000 genomes populations. Larger value means the SNV is more likely to be damaging. Scores range from 0 to 1
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
155 LRT_Omega
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
156 Estimated nonsynonymous-to-synonymous-rate ratio (Omega, reported by LRT)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
157 LRT_converted_rankscore
3
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
158 LRTori scores were first converted as LRTnew=1-LRTori*0.5 if Omega<1, or LRTnew=LRTori*0.5 if Omega>=1. Then LRTnew scores were ranked among all LRTnew scores in dbNSFP. The rankscore is the ratio of the rank over the total number of the scores in dbNSFP. The scores range from 0.00166 to 0.85682
0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
159 LRT_pred
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
160 LRT prediction, D(eleterious), N(eutral) or U(nknown), which is not solely determined by the score
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
161 LRT_score
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
162 The original LRT two-sided p-value (LRTori), ranges from 0 to 1
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
163 MutationAssessor_pred
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
164 MutationAssessor's functional impact of a variant
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
165 MutationAssessor_rankscore
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
166 MAori scores were ranked among all MAori scores in dbNSFP. The rankscore is the ratio of the rank of the score over the total number of MAori scores in dbNSFP. The scores range from 0 to 1
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
167 MutationAssessor_score
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
168 MutationAssessor functional impact combined score (MAori)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
169 MutationTaster_converted_rankscore
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
170 The MTori scores were first converted: if the prediction is "A" or "D" MTnew=MTori; if the prediction is "N" or "P", MTnew=1-MTori. Then MTnew scores were ranked among all MTnew scores in dbNSFP. The rankscore is the ratio of the rank of the score over the total number of MTnew scores in dbNSFP. The scores range from 0.0931 to 0.80722
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
171 MutationTaster_pred
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
172 MutationTaster prediction
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
173 MutationTaster_score
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
174 MutationTaster p-value (MTori), ranges from 0 to 1
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
175 phastCons46way_placental
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
176 phastCons conservation score based on the multiple alignments of 33 placental mammal genomes (including human). The larger the score, the more conserved the site
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
177 phastCons46way_placental_rankscore
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
178 phastCons46way_placental scores were ranked among all phastCons46way_placental scores in dbNSFP. The rankscore is the ratio of the rank of the score over the total number of phastCons46way_placental scores in dbNSFP
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
179 phastCons46way_primate
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
180 phastCons conservation score based on the multiple alignments of 10 primate genomes (including human). The larger the score, the more conserved the site
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
181 phastCons46way_primate_rankscore
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
182 phastCons46way_primate scores were ranked among all phastCons46way_primate scores in dbNSFP. The rankscore is the ratio of the rank of the score over the total number of phastCons46way_primate scores in dbNSFP
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
183 phastCons100way_vertebrate
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
184 phastCons conservation score based on the multiple alignments of 100 vertebrate genomes (including human). The larger the score, the more conserved the site
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
185 phastCons100way_vertebrate_rankscore
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
186 phastCons100way_vertebrate scores were ranked among all phastCons100way_vertebrate scores in dbNSFP. The rankscore is the ratio of the rank of the score over the total number of phastCons100way_vertebrate scores in dbNSFP
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
187 phyloP46way_placental
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
188 phyloP (phylogenetic p-values) conservation score based on the multiple alignments of 33 placental mammal genomes (including human). The larger the score, the more conserved the site
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
189 phyloP46way_placental_rankscore
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
190 phyloP46way_placental scores were ranked among all phyloP46way_placental scores in dbNSFP. The rankscore is the ratio of the rank of the score over the total number of phyloP46way_placental scores in dbNSFP
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
191 phyloP46way_primate
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
192 phyloP (phylogenetic p-values) conservation score based on the multiple alignments of 10 primate genomes (including human). The larger the score, the more conserved the site
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
193 phyloP46way_primate_rankscore
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
194 phyloP46way_primate scores were ranked among all phyloP46way_primate scores in dbNSFP. The rankscore is the ratio of the rank of the score over the total number of phyloP46way_primate scores in dbNSFP
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
195 phyloP100way_vertebrate
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
196 phyloP (phylogenetic p-values) conservation score based on the multiple alignments of 100 vertebrate genomes (including human). The larger the score, the more conserved the site
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
197 phyloP100way_vertebrate_rankscore
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
198 phyloP100way_vertebrate scores were ranked among all phyloP100way_vertebrate scores in dbNSFP. The rankscore is the ratio of the rank of the score over the total number of phyloP100way_vertebrate scores in dbNSFP
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
199 Polyphen2_HDIV_pred
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
200 Polyphen2 prediction based on HumDiv
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
201 Polyphen2_HDIV_rankscore
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
202 Polyphen2 HDIV scores were first ranked among all HDIV scores in dbNSFP. The rankscore is the ratio of the rank the score over the total number of the scores in dbNSFP. If there are multiple scores, only the most damaging (largest) rankscore is presented. The scores range from 0.02656 to 0.89917
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
203 Polyphen2_HDIV_score
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
204 Polyphen2 score based on HumDiv, i.e. hdiv_prob. The score ranges from 0 to 1. Multiple entries separated by ";"
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
205 Polyphen2_HVAR_pred
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
206 Polyphen2 prediction based on HumVar
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
207 Polyphen2_HVAR_rankscore
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
208 Polyphen2 HVAR scores were first ranked among all HVAR scores in dbNSFP. The rankscore is the ratio of the rank the score over the total number of the scores in dbNSFP. If there are multiple scores, only the most damaging (largest) rankscore is presented. The scores range from 0.01281 to 0.9711
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
209 Polyphen2_HVAR_score
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
210 Polyphen2 score based on HumVar, i.e. hvar_prob. The score ranges from 0 to 1. Multiple entries separated by ";"
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
211 pos(1-coor)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
212 Physical position on the chromosome as to hg19 (1-based coordinate)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
213 RadialSVM_pred
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
214 Prediction of our SVM based ensemble prediction score, "T(olerated)" or "D(amaging)". The score cutoff between "D" and "T" is 0. The rankscore cutoff between "D" and "T" is 0.83357
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
215 RadialSVM_rankscore
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
216 RadialSVM scores were ranked among all RadialSVM scores in dbNSFP. The rankscore is the ratio of the rank of the screo over the total number of RadialSVM scores in dbNSFP. The scores range from 0 to 1
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
217 RadialSVM_score
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
218 Our support vector machine (SVM) based ensemble prediction score, which incorporated 10 scores (SIFT, PolyPhen-2 HDIV, PolyPhen-2 HVAR, GERP++, MutationTaster, Mutation Assessor, FATHMM, LRT, SiPhy, PhyloP) and the maximum frequency observed in the 1000 genomes populations. Larger value means the SNV is more likely to be damaging. Scores range from -2 to 3 in dbNSFP
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
219 ref
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
220 Reference nucleotide allele (as on the + strand)
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
221 refcodon
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
222 Reference codon
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
223 Reliability_index
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
224 Number of observed component scores (except the maximum frequency in the 1000 genomes populations) for RadialSVM and LR. Ranges from 1 to 10. As RadialSVM and LR scores are calculated based on imputed data, the less missing component scores, the higher the reliability of the scores and predictions
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
225 SIFT_converted_rankscore
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
226 SIFTori scores were first converted to SIFTnew=1-SIFTori, then ranked among all SIFTnew scores in dbNSFP. The rankscore is the ratio of the rank the SIFTnew score over the total number of SIFTnew scores in dbNSFP. If there are multiple scores, only the most damaging (largest) rankscore is presented. The rankscores range from 0.02654 to 0.87932
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
227 SIFT_pred
3
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
228 If SIFTori is smaller than 0.05 (rankscore>0.55) the corresponding non-synonymous SNP is predicted as "D(amaging)"; otherwise it is predicted as "T(olerated)". Multiple predictions separated by ";"
0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
229 SIFT_score
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
230 SIFT score (SIFTori). Scores range from 0 to 1. The smaller the score the more likely the SNP has damaging effect. Multiple scores separated by ";"
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
231 SiPhy_29way_logOdds
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
232 SiPhy score based on 29 mammals genomes. The larger the score, the more conserved the site
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
233 SiPhy_29way_pi
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
234 The estimated stationary distribution of A, C, G and T at the site, using SiPhy algorithm based on 29 mammals genomes
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
235 SLR_test_statistic
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
236 SLR test statistic for testing natural selection on codons. A negative value indicates negative selection, and a positive value indicates positive selection. Larger magnitude of the value suggests stronger evidence
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
237 Uniprot_aapos
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
238 Amino acid position as to Uniprot. Multiple entries separated by ";"
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
239 Uniprot_acc
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
240 Uniprot accession number. Multiple entries separated by ";"
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
241 Uniprot_id
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
242 Uniprot ID number. Multiple entries separated by ";"
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
243 UniSNP_ids
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
244 rs numbers from UniSNP, which is a cleaned version of dbSNP build 129, in format: rs number1;rs number2;...
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
245
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
246
3
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
247 The website for dbNSFP database is https://sites.google.com/site/jpopgen/dbNSFP and there is only annotation for human genome builds.
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
248
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
249 The procedure for preparing the dbNSFP data for use in SnpSift dbnsfp is in the SnpSift documentation:
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
250 *( It also provides links for dbNSFP databases prebuilt for SnpSift )*
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
251 http://snpeff.sourceforge.net/SnpSift.html#dbNSFP
0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
252
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
253 However, any dbNSFP-like tabular file that be can used with SnpSift dbnsfp if it has::
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
254
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
255 - The first line of the file must be column headers that name the annotations.
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
256 - The first 4 columns are required and must be::
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
257 1. chromosome
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
258 2. position in chromosome
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
259 3. reference base
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
260 4. alternate base
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
261
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
262 For example:
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
263
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
264 ::
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
265
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
266 #chr pos(1-coor) ref alt aaref aaalt genename SIFT_score
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
267 1 69134 A C E A OR4F5 0.03
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
268 1 69134 A G E G OR4F5 0.09
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
269 1 69134 A T E V OR4F5 0.03
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
270 4 100239319 T A H L ADH1B 0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
271 4 100239319 T C H R ADH1B 0.15
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
272 4 100239319 T G H P ADH1B 0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
273
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
274
3
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
275 The galaxy datatypes for dbNSFP can automatically convert the specially formatted tabular file for use by SnpSift dbNSFP:
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
276 1. Upload the tabular file, set the datatype as: **"dbnsfp.tabular"**
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
277 2. Edit the history dataset attributes (pencil icon): Use "Convert Format" to convert the **"dbnsfp.tabular"** to the correct format for SnpSift dbnsfp: **"snpsiftdbnsfp"**.
0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
278
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
279
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
280 @EXTERNAL_DOCUMENTATION@
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
281 http://snpeff.sourceforge.net/SnpSift.html#dbNSFP
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
282
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
283 @CITATION_SECTION@
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
284
3
b5e03b2cb813 Uploaded
jjohnson
parents: 2
diff changeset
285 ]]>
0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
286 </help>
4
772825adad2f planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpsift/snpsift_dbnsfp commit 93465571cf180554c3548338a68fa0f1604985dc-dirty
jjohnson
parents: 3
diff changeset
287 <expand macro="citations">
772825adad2f planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpsift/snpsift_dbnsfp commit 93465571cf180554c3548338a68fa0f1604985dc-dirty
jjohnson
parents: 3
diff changeset
288 <citation type="doi">DOI: 10.1002/humu.21517</citation>
772825adad2f planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpsift/snpsift_dbnsfp commit 93465571cf180554c3548338a68fa0f1604985dc-dirty
jjohnson
parents: 3
diff changeset
289 <citation type="doi">DOI: 10.1002/humu.22376</citation>
772825adad2f planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpsift/snpsift_dbnsfp commit 93465571cf180554c3548338a68fa0f1604985dc-dirty
jjohnson
parents: 3
diff changeset
290 <citation type="doi">DOI: 10.1002/humu.22932</citation>
772825adad2f planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpsift/snpsift_dbnsfp commit 93465571cf180554c3548338a68fa0f1604985dc-dirty
jjohnson
parents: 3
diff changeset
291 <citation type="doi">doi: 10.1093/hmg/ddu733</citation>
772825adad2f planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpsift/snpsift_dbnsfp commit 93465571cf180554c3548338a68fa0f1604985dc-dirty
jjohnson
parents: 3
diff changeset
292 <citation type="doi">doi: 10.1093/nar/gku1206</citation>
772825adad2f planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpsift/snpsift_dbnsfp commit 93465571cf180554c3548338a68fa0f1604985dc-dirty
jjohnson
parents: 3
diff changeset
293 <citation type="doi">doi: 10.3389/fgene.2012.00035</citation>
772825adad2f planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tool_collections/snpsift/snpsift_dbnsfp commit 93465571cf180554c3548338a68fa0f1604985dc-dirty
jjohnson
parents: 3
diff changeset
294 </expand>
0
639db62ec3d4 Imported from capsule None
jjohnson
parents:
diff changeset
295 </tool>