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Update header lines for ClinvarAnnotator (#258)
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* Update header lines for ClinvarAnnotator
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bbimber authored Jul 3, 2023
1 parent 5d019b2 commit 3bc675a
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Showing 3 changed files with 8 additions and 8 deletions.
Original file line number Diff line number Diff line change
Expand Up @@ -67,18 +67,18 @@ public class ClinvarAnnotator extends VariantWalker {
new VCFInfoHeaderLine("CLN_DNINCL", VCFHeaderLineCount.R, VCFHeaderLineType.String, "For included Variant : ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB"),
new VCFInfoHeaderLine("CLN_DISDB", VCFHeaderLineCount.R, VCFHeaderLineType.String,"Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN"),
new VCFInfoHeaderLine("CLN_DISDBINCL", VCFHeaderLineCount.R, VCFHeaderLineType.String,"For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN"),
new VCFInfoHeaderLine("CLN_HGVS", VCFHeaderLineCount.R, VCFHeaderLineType.String,"For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN"),
new VCFInfoHeaderLine("CLN_REVSTAT", VCFHeaderLineCount.R, VCFHeaderLineType.String,"Top-level (primary assembly, alt, or patch) HGVS expression."),
new VCFInfoHeaderLine("CLN_HGVS", VCFHeaderLineCount.R, VCFHeaderLineType.String,"Top-level (primary assembly, alt, or patch) HGVS expression"),
new VCFInfoHeaderLine("CLN_REVSTAT", VCFHeaderLineCount.R, VCFHeaderLineType.String,"ClinVar's review status for the Variation ID"),
new VCFInfoHeaderLine("CLN_SIG", VCFHeaderLineCount.R, VCFHeaderLineType.String,"Clinical significance for this single variant"),
new VCFInfoHeaderLine("CLN_SIGINCL", VCFHeaderLineCount.R, VCFHeaderLineType.String,"Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance."),
new VCFInfoHeaderLine("CLN_VC", VCFHeaderLineCount.R, VCFHeaderLineType.String,"Variant type"),
new VCFInfoHeaderLine("CLN_VCSO", VCFHeaderLineCount.R, VCFHeaderLineType.String,"Sequence Ontology id for variant type"),
new VCFInfoHeaderLine("CLN_VI", VCFHeaderLineCount.R, VCFHeaderLineType.String,"the variant's clinical sources reported as tag-value pairs of database and variant identifier"),
new VCFInfoHeaderLine("CLN_VI", VCFHeaderLineCount.R, VCFHeaderLineType.String,"The variant's clinical sources reported as tag-value pairs of database and variant identifier"),
new VCFInfoHeaderLine("CLN_DBVARID", VCFHeaderLineCount.R, VCFHeaderLineType.String, "nsv accessions from dbVar for the variant"),
new VCFInfoHeaderLine("CLN_GENEINFO", VCFHeaderLineCount.R, VCFHeaderLineType.String,"Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (|)"),
new VCFInfoHeaderLine("CLN_MC", VCFHeaderLineCount.R, VCFHeaderLineType.String,"comma separated list of molecular consequence in the form of Sequence Ontology ID|molecular_consequence"),
new VCFInfoHeaderLine("CLN_ORIGIN", VCFHeaderLineCount.R, VCFHeaderLineType.String,"Allele origin. One or more of the following values may be added: 0 - unknown; 1 - germline; 2 - somatic; 4 - inherited; 8 - paternal; 16 - maternal; 32 - de-novo; 64 - biparental; 128 - uniparental; 256 - not-tested; 512 - tested-inconclusive; 1073741824 - other"),
new VCFInfoHeaderLine("CLN_RS", VCFHeaderLineCount.R, VCFHeaderLineType.String,"dbSNP ID (i.e. rs number)"),
new VCFInfoHeaderLine("CLN_RS", VCFHeaderLineCount.R, VCFHeaderLineType.String,"dbSNP ID (i.e. rs number) from dbSNP build 155"),
new VCFInfoHeaderLine("CLN_SSR", VCFHeaderLineCount.R, VCFHeaderLineType.String,"Variant Suspect Reason Codes. One or more of the following values may be added: 0 - unspecified, 1 - Paralog, 2 - byEST, 4 - oldAlign, 8 - Para_EST, 16 - 1kg_failed, 1024 - other")
);

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Expand Up @@ -16,17 +16,17 @@
##INFO=<ID=CLN_DN,Number=R,Type=String,Description="ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB">
##INFO=<ID=CLN_DNINCL,Number=R,Type=String,Description="For included Variant : ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB">
##INFO=<ID=CLN_GENEINFO,Number=R,Type=String,Description="Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (|)">
##INFO=<ID=CLN_HGVS,Number=R,Type=String,Description="For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN">
##INFO=<ID=CLN_HGVS,Number=R,Type=String,Description="Top-level (primary assembly, alt, or patch) HGVS expression">
##INFO=<ID=CLN_MC,Number=R,Type=String,Description="comma separated list of molecular consequence in the form of Sequence Ontology ID|molecular_consequence">
##INFO=<ID=CLN_ORIGIN,Number=R,Type=String,Description="Allele origin. One or more of the following values may be added: 0 - unknown; 1 - germline; 2 - somatic; 4 - inherited; 8 - paternal; 16 - maternal; 32 - de-novo; 64 - biparental; 128 - uniparental; 256 - not-tested; 512 - tested-inconclusive; 1073741824 - other">
##INFO=<ID=CLN_REVSTAT,Number=R,Type=String,Description="Top-level (primary assembly, alt, or patch) HGVS expression.">
##INFO=<ID=CLN_RS,Number=R,Type=String,Description="dbSNP ID (i.e. rs number)">
##INFO=<ID=CLN_REVSTAT,Number=R,Type=String,Description="ClinVar's review status for the Variation ID">
##INFO=<ID=CLN_RS,Number=R,Type=String,Description="dbSNP ID (i.e. rs number) from dbSNP build 155">
##INFO=<ID=CLN_SIG,Number=R,Type=String,Description="Clinical significance for this single variant">
##INFO=<ID=CLN_SIGINCL,Number=R,Type=String,Description="Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance.">
##INFO=<ID=CLN_SSR,Number=R,Type=String,Description="Variant Suspect Reason Codes. One or more of the following values may be added: 0 - unspecified, 1 - Paralog, 2 - byEST, 4 - oldAlign, 8 - Para_EST, 16 - 1kg_failed, 1024 - other">
##INFO=<ID=CLN_VC,Number=R,Type=String,Description="Variant type">
##INFO=<ID=CLN_VCSO,Number=R,Type=String,Description="Sequence Ontology id for variant type">
##INFO=<ID=CLN_VI,Number=R,Type=String,Description="the variant's clinical sources reported as tag-value pairs of database and variant identifier">
##INFO=<ID=CLN_VI,Number=R,Type=String,Description="The variant's clinical sources reported as tag-value pairs of database and variant identifier">
##INFO=<ID=MAC,Number=1,Type=Integer,Description="Matching ALT allele count">
##INFO=<ID=PURPOSE,Number=1,Type=String,Description="Purpose of test case">
##INFO=<ID=RN,Number=1,Type=Integer,Description="Random number">
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