annotate test-data/all.somatic.indels.vcf @ 14:ca84a74ff567

corriging bug in environment variable
author mini
date Wed, 01 Oct 2014 12:21:13 +0200
parents 87568e5a7d4f
children
Ignore whitespace changes - Everywhere: Within whitespace: At end of lines:
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6
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1 ##fileformat=VCFv4.1
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2 ##fileDate=20130116
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3 ##source=strelka
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4 ##source_version=2.0.2-29-ged3977a
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5 ##startTime=Wed Jan 16 19:42:09 2013
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6 ##reference=file:///home/csaunders/devel/strelka_workflow/scratch/strelka_workflow-1.0.0-10-g37f7f70/install/bin/demo/data/chr20_860k_only.fa
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7 ##contig=<ID=chr20,length=63025520>
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8 ##content=strelka somatic indel calls
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9 ##germlineIndelTheta=0.0001
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10 ##priorSomaticIndelRate=1e-06
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11 ##INFO=<ID=QSI,Number=1,Type=Integer,Description="Quality score for any somatic variant, ie. for the ALT haplotype to be present at a significantly different frequency in the tumor and normal">
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12 ##INFO=<ID=TQSI,Number=1,Type=Integer,Description="Data tier used to compute QSI">
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13 ##INFO=<ID=NT,Number=1,Type=String,Description="Genotype of the normal in all data tiers, as used to classify somatic variants. One of {ref,het,hom,conflict}.">
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14 ##INFO=<ID=QSI_NT,Number=1,Type=Integer,Description="Quality score reflecting the joint probability of a somatic variant and NT">
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15 ##INFO=<ID=TQSI_NT,Number=1,Type=Integer,Description="Data tier used to compute QSI_NT">
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16 ##INFO=<ID=SGT,Number=1,Type=String,Description="Most likely somatic genotype excluding normal noise states">
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17 ##INFO=<ID=RU,Number=1,Type=String,Description="Smallest repeating sequence unit in inserted or deleted sequence">
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18 ##INFO=<ID=RC,Number=1,Type=Integer,Description="Number of times RU repeats in the reference allele">
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19 ##INFO=<ID=IC,Number=1,Type=Integer,Description="Number of times RU repeats in the indel allele">
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20 ##INFO=<ID=IHP,Number=1,Type=Integer,Description="Largest reference interupted homopolymer length intersecting with the indel">
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21 ##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant">
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22 ##INFO=<ID=SOMATIC,Number=0,Type=Flag,Description="Somatic mutation">
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23 ##INFO=<ID=OVERLAP,Number=0,Type=Flag,Description="Somatic indel possibly overlaps a second indel.">
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24 ##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read depth for tier1">
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25 ##FORMAT=<ID=DP2,Number=1,Type=Integer,Description="Read depth for tier2">
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26 ##FORMAT=<ID=TAR,Number=2,Type=Integer,Description="Reads strongly supporting alternate allele for tiers 1,2">
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27 ##FORMAT=<ID=TIR,Number=2,Type=Integer,Description="Reads strongly supporting indel allele for tiers 1,2">
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28 ##FORMAT=<ID=TOR,Number=2,Type=Integer,Description="Other reads (weak support or insufficient indel breakpoint overlap) for tiers 1,2">
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29 ##FORMAT=<ID=DP50,Number=1,Type=Float,Description="Average tier1 read depth within 50 bases">
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30 ##FORMAT=<ID=FDP50,Number=1,Type=Float,Description="Average tier1 number of basecalls filtered from original read depth within 50 bases">
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31 ##FORMAT=<ID=SUBDP50,Number=1,Type=Float,Description="Average number of reads below tier1 mapping quality threshold aligned across sites within 50 bases">
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32 ##FILTER=<ID=Repeat,Description="Sequence repeat of more than 8x in the reference sequence">
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33 ##FILTER=<ID=iHpol,Description="Indel overlaps an interupted homopolymer longer than 14x in the reference sequence">
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34 ##FILTER=<ID=BCNoise,Description="Average fraction of filtered basecalls within 50 bases of the indel exceeds 0.3">
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35 ##FILTER=<ID=QSI_ref,Description="Normal sample is not homozygous ref or sindel Q-score < 30, ie calls with NT!=ref or QSI_NT < 30">
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36 ##cmdline=/home/csaunders/devel/strelka_workflow/scratch/strelka_workflow-1.0.0-10-g37f7f70/install/libexec/consolidateResults.pl --config=/home/csaunders/devel/strelka_workflow/scratch/strelka_workflow-1.0.0-10-g37f7f70/install/bin/demo/strelkaDemoAnalysis/config/run.config.ini
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37 #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NORMAL TUMOR
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38 chr20 863148 . C CTAT . PASS IC=2;IHP=3;NT=ref;QSI=35;QSI_NT=35;RC=1;RU=TAT;SGT=ref->het;SOMATIC;TQSI=1;TQSI_NT=1 DP:DP2:TAR:TIR:TOR:DP50:FDP50:SUBDP50 28:28:26,26:0,0:2,2:26.34:0.00:0.00 20:20:10,10:7,7:3,3:20.83:0.00:0.00
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39 chr20 865664 . TC T . PASS IC=3;IHP=8;NT=ref;QSI=39;QSI_NT=39;RC=4;RU=C;SGT=ref->het;SOMATIC;TQSI=1;TQSI_NT=1 DP:DP2:TAR:TIR:TOR:DP50:FDP50:SUBDP50 22:22:22,22:0,0:0,0:24.92:0.00:0.00 41:41:18,18:20,20:2,2:36.47:0.05:0.00