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view test-data/test1.out.vcf @ 0:00cab3d2e98b draft
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author | hepcat72 |
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date | Wed, 15 Aug 2018 15:40:54 -0400 |
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##fileformat=VCFv4.1 ##fileDate=20180119 ##reference=/shared/genomes/b37/full/human_g1k_v37.fasta ##INFO=<ID=TOOL,Number=1,Type=String,Description="Tool used to generate variant call"> ##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant"> ##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="Difference in length between REF and ALT alleles"> ##INFO=<ID=END,Number=1,Type=Integer,Description="End position of the variant described in this record"> ##INFO=<ID=STR,Number=.,Type=String,Description="Strand orientation of the adjacency in BEDPE format"> ##INFO=<ID=IMPRECISE,Number=0,Type=Flag,Description="Imprecise structural variation"> ##INFO=<ID=CIPOS,Number=2,Type=Integer,Description="Confidence interval around POS for imprecise variants"> ##INFO=<ID=CIEND,Number=2,Type=Integer,Description="Confidence interval around END for imprecise variants"> ##INFO=<ID=BKPTID,Number=.,Type=String,Description="ID of the assembled alternate allele in the assembly file"> ##INFO=<ID=PARID,Number=1,Type=String,Description="ID of partner breakend"> ##INFO=<ID=MATEID,Number=.,Type=String,Description="ID of mate breakends"> ##INFO=<ID=EVENT,Number=1,Type=String,Description="ID of event associated to breakend"> ##INFO=<ID=HOMLEN,Number=.,Type=Integer,Description="Length of base pair identical micro-homology at event breakpoints"> ##INFO=<ID=HOMSEQ,Number=.,Type=String,Description="Sequence of base pair identical micro-homology at event breakpoints"> ##INFO=<ID=SOMATIC,Number=0,Type=Flag,Description="Somatic mutation"> ##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed"> ##INFO=<ID=AF,Number=A,Type=Float,Description="Allele frequency, for each ALT allele, in the same order as listed"> ##INFO=<ID=AN,Number=1,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed"> ##INFO=<ID=NS,Number=1,Type=Integer,Description="Number of samples with data"> ##INFO=<ID=SUP,Number=.,Type=Integer,Description="Number of pieces of evidence supporting the variant across all samples"> ##INFO=<ID=PESUP,Number=.,Type=Integer,Description="Number of paired-end reads supporting the variant across all samples"> ##INFO=<ID=SRSUP,Number=.,Type=Integer,Description="Number of split reads supporting the variant across all samples"> ##INFO=<ID=EVTYPE,Number=.,Type=String,Description="Type of LUMPY evidence contributing to the variant call"> ##INFO=<ID=PRIN,Number=0,Type=Flag,Description="Indicates variant as the principal variant in a BEDPE pair"> ##ALT=<ID=DEL,Description="Deletion"> ##ALT=<ID=DUP,Description="Duplication"> ##ALT=<ID=INV,Description="Inversion"> ##ALT=<ID=DUP:TANDEM,Description="Tandem duplication"> ##ALT=<ID=INS,Description="Insertion of novel sequence"> ##ALT=<ID=CNV,Description="Copy number variable region"> ##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> ##FORMAT=<ID=SUP,Number=1,Type=Integer,Description="Number of pieces of evidence supporting the variant"> ##FORMAT=<ID=PE,Number=1,Type=Integer,Description="Number of paired-end reads supporting the variant"> ##FORMAT=<ID=SR,Number=1,Type=Integer,Description="Number of split reads supporting the variant"> ##FORMAT=<ID=GQ,Number=1,Type=Float,Description="Genotype quality"> ##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read depth"> ##FORMAT=<ID=CN,Number=1,Type=Integer,Description="Copy number genotype for imprecise events"> ##FORMAT=<ID=CNQ,Number=1,Type=Float,Description="Copy number genotype quality for imprecise events"> ##FORMAT=<ID=CNL,Number=.,Type=Float,Description="Copy number genotype likelihood form imprecise events"> ##FORMAT=<ID=NQ,Number=1,Type=Integer,Description="Phred style probability score that the variant is novel"> ##FORMAT=<ID=HAP,Number=1,Type=Integer,Description="Unique haplotype identifier"> ##FORMAT=<ID=AHAP,Number=1,Type=Integer,Description="Unique identifier of ancestral haplotype"> ##FORMAT=<ID=RO,Number=1,Type=Integer,Description="Reference allele observation count, with partial observations recorded fractionally"> ##FORMAT=<ID=AO,Number=A,Type=Integer,Description="Alternate allele observations, with partial observations recorded fractionally"> ##FORMAT=<ID=SQ,Number=1,Type=Float,Description="Phred-scaled probability that this site is variant (non-reference in this sample"> ##FORMAT=<ID=GL,Number=G,Type=Float,Description="Genotype Likelihood, log10-scaled likelihoods of the data given the called genotype for each possible genotype generated from the reference and alternate alleles given the sample ploidy"> ##FORMAT=<ID=QR,Number=1,Type=Integer,Description="Sum of quality of reference observations"> ##FORMAT=<ID=QA,Number=A,Type=Integer,Description="Sum of quality of alternate observations"> ##FORMAT=<ID=RS,Number=1,Type=Integer,Description="Reference allele split-read observation count, with partial observations recorded fractionally"> ##FORMAT=<ID=AS,Number=A,Type=Integer,Description="Alternate allele split-read observation count, with partial observations recorded fractionally"> ##FORMAT=<ID=ASC,Number=A,Type=Integer,Description="Alternate allele clipped-read observation count, with partial observations recorded fractionally"> ##FORMAT=<ID=RP,Number=1,Type=Integer,Description="Reference allele paired-end observation count, with partial observations recorded fractionally"> ##FORMAT=<ID=AP,Number=A,Type=Integer,Description="Alternate allele paired-end observation count, with partial observations recorded fractionally"> ##FORMAT=<ID=AB,Number=A,Type=Float,Description="Allele balance, fraction of observations from alternate allele, QA/(QR+QA)"> ##contig=<ID=1,length=249250621> ##contig=<ID=2,length=243199373> ##contig=<ID=3,length=198022430> ##contig=<ID=4,length=191154276> ##contig=<ID=5,length=180915260> ##contig=<ID=6,length=171115067> ##contig=<ID=7,length=159138663> ##contig=<ID=8,length=146364022> ##contig=<ID=9,length=141213431> ##contig=<ID=10,length=135534747> ##contig=<ID=11,length=135006516> ##contig=<ID=12,length=133851895> ##contig=<ID=13,length=115169878> ##contig=<ID=14,length=107349540> ##contig=<ID=15,length=102531392> ##contig=<ID=16,length=90354753> ##contig=<ID=17,length=81195210> ##contig=<ID=18,length=78077248> ##contig=<ID=19,length=59128983> ##contig=<ID=20,length=63025520> ##contig=<ID=21,length=48129895> ##contig=<ID=22,length=51304566> ##contig=<ID=X,length=155270560> ##contig=<ID=Y,length=59373566> ##contig=<ID=MT,length=16569> ##contig=<ID=GL000207.1,length=4262> ##contig=<ID=GL000226.1,length=15008> ##contig=<ID=GL000229.1,length=19913> ##contig=<ID=GL000231.1,length=27386> ##contig=<ID=GL000210.1,length=27682> ##contig=<ID=GL000239.1,length=33824> ##contig=<ID=GL000235.1,length=34474> ##contig=<ID=GL000201.1,length=36148> ##contig=<ID=GL000247.1,length=36422> ##contig=<ID=GL000245.1,length=36651> ##contig=<ID=GL000197.1,length=37175> ##contig=<ID=GL000203.1,length=37498> ##contig=<ID=GL000246.1,length=38154> ##contig=<ID=GL000249.1,length=38502> ##contig=<ID=GL000196.1,length=38914> ##contig=<ID=GL000248.1,length=39786> ##contig=<ID=GL000244.1,length=39929> ##contig=<ID=GL000238.1,length=39939> ##contig=<ID=GL000202.1,length=40103> ##contig=<ID=GL000234.1,length=40531> ##contig=<ID=GL000232.1,length=40652> ##contig=<ID=GL000206.1,length=41001> ##contig=<ID=GL000240.1,length=41933> ##contig=<ID=GL000236.1,length=41934> ##contig=<ID=GL000241.1,length=42152> ##contig=<ID=GL000243.1,length=43341> ##contig=<ID=GL000242.1,length=43523> ##contig=<ID=GL000230.1,length=43691> ##contig=<ID=GL000237.1,length=45867> ##contig=<ID=GL000233.1,length=45941> ##contig=<ID=GL000204.1,length=81310> ##contig=<ID=GL000198.1,length=90085> ##contig=<ID=GL000208.1,length=92689> ##contig=<ID=GL000191.1,length=106433> ##contig=<ID=GL000227.1,length=128374> ##contig=<ID=GL000228.1,length=129120> ##contig=<ID=GL000214.1,length=137718> ##contig=<ID=GL000221.1,length=155397> ##contig=<ID=GL000209.1,length=159169> ##contig=<ID=GL000218.1,length=161147> ##contig=<ID=GL000220.1,length=161802> ##contig=<ID=GL000213.1,length=164239> ##contig=<ID=GL000211.1,length=166566> ##contig=<ID=GL000199.1,length=169874> ##contig=<ID=GL000217.1,length=172149> ##contig=<ID=GL000216.1,length=172294> ##contig=<ID=GL000215.1,length=172545> ##contig=<ID=GL000205.1,length=174588> ##contig=<ID=GL000219.1,length=179198> ##contig=<ID=GL000224.1,length=179693> ##contig=<ID=GL000223.1,length=180455> ##contig=<ID=GL000195.1,length=182896> ##contig=<ID=GL000212.1,length=186858> ##contig=<ID=GL000222.1,length=186861> ##contig=<ID=GL000200.1,length=187035> ##contig=<ID=GL000193.1,length=189789> ##contig=<ID=GL000194.1,length=191469> ##contig=<ID=GL000225.1,length=211173> ##contig=<ID=GL000192.1,length=547496> #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878 2 2798774 72354 C <DEL> 1743.00 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-467;END=2799241;STR=+-:840;CIPOS=0,0;CIEND=0,0;EVENT=72354;SUP=840;PESUP=608;SRSUP=232;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 1/1:150:60:0:60:1743.00:-177,-18,-3:0:59:0:15:4:0:39:1 2 3732805 72623 C <DEL> 755.39 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-5222;END=3738027;STR=+-:212;CIPOS=0,0;CIEND=0,0;EVENT=72623;SUP=212;PESUP=192;SRSUP=20;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/1:200:81:46:34:755.39:-77,-1,-24:45:33:21:2:4:24:26:0.42 2 6400508 73459 C <DEL> 0.00 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-1684;END=6402192;STR=+-:38;CIPOS=0,0;CIEND=0,0;EVENT=73459;SUP=38;PESUP=27;SRSUP=11;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/0:200:127:127:0:0.00:-0,-38,-126:126:0:65:0:0:61:0:0 2 14704171 76210 G <DEL> 1013.14 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-5944;END=14710115;STR=+-:293;CIPOS=0,0;CIEND=0,0;EVENT=76210;SUP=293;PESUP=218;SRSUP=75;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/1:200:115:68:46:1013.14:-103,-2,-37:67:45:31:11:2:36:31:0.4 2 16271643 76851 G <DEL> 221.88 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-2219;END=16273862;STR=+-:196;IMPRECISE;CIPOS=-1,6;CIEND=-5,1;EVENT=76851;SUP=196;PESUP=196;SRSUP=0;EVTYPE=PE;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/1:25:16:7:9:221.88:-23,-1,-3:7:9:0:0:0:7:9:0.56 2 18906149 76667 T <DEL> 884.01 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-1198;END=18907347;STR=+-:313;CIPOS=0,0;CIEND=0,0;EVENT=76667;SUP=313;PESUP=226;SRSUP=87;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/1:200:138:93:44:884.01:-93,-5,-58:92:43:39:13:1:53:28:0.32 2 28661666 80866 C <DEL> 224.74 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-51;END=28661717;STR=+-:202;CIPOS=0,0;CIEND=0,0;EVENT=80866;SUP=202;PESUP=0;SRSUP=202;EVTYPE=SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/1:139:36:24:11:224.74:-24,-2,-16:24:11:24:11:0:0:0:0.31 2 30934974 81625 C <DEL> 0.00 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-120;END=30935094;STR=+-:8;CIPOS=0,0;CIEND=0,0;EVENT=81625;SUP=8;PESUP=1;SRSUP=7;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/0:186:62:62:0:0.00:-0,-19,-62:62:0:62:0:0:0:0:0 2 33224462 82677 A <DEL> 749.25 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-2829;END=33227291;STR=+-:357;CIPOS=0,0;CIEND=0,0;EVENT=82677;SUP=357;PESUP=263;SRSUP=94;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/1:200:102:66:36:749.25:-78,-3,-40:65:35:33:11:2:32:21:0.35 2 34523656 83127 G <DEL> 1277.09 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-2062;END=34525718;STR=+-:1031;CIPOS=0,0;CIEND=0,0;EVENT=83127;SUP=1031;PESUP=719;SRSUP=312;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/1:200:117:61:55:1277.09:-129,-1,-29:60:54:28:17:2:32:34:0.47 2 34965729 83280 A <DEL> 0.00 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-1539;END=34967268;STR=+-:86;CIPOS=0,0;CIEND=0,0;EVENT=83280;SUP=86;PESUP=61;SRSUP=25;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/0:200:127:127:0:0.00:-0,-38,-126:126:0:61:0:0:65:0:0 2 35007246 83301 G <DEL> 0.00 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-578;END=35007824;STR=+-:16;CIPOS=0,0;CIEND=0,0;EVENT=83301;SUP=16;PESUP=0;SRSUP=16;EVTYPE=SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/0:200:147:147:0:0.00:-0,-44,-146:146:0:69:0:0:77:0:0 2 35772266 83555 A <DEL> 305.71 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-52;END=35772318;STR=+-:109;CIPOS=0,0;CIEND=0,0;EVENT=83555;SUP=109;PESUP=1;SRSUP=108;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/1:132:39:24:14:305.71:-32,-1,-15:24:14:24:14:0:0:0:0.37 2 40446947 85115 T <DEL> 155.73 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-125;END=40447072;STR=+-:100;CIPOS=0,0;CIEND=0,0;EVENT=85115;SUP=100;PESUP=0;SRSUP=100;EVTYPE=SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/1:155:39:29:9:155.73:-19,-3,-21:29:9:29:9:0:0:0:0.24 2 41238369 85376 A <DEL> 0.00 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-11934;END=41250303;STR=+-:41;CIPOS=0,0;CIEND=0,0;EVENT=85376;SUP=41;PESUP=29;SRSUP=12;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/0:200:135:135:0:0.00:-0,-40,-134:134:0:60:0:0:74:0:0 2 41775966 85577 T <DEL> 0.00 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-5316;END=41781282;STR=+-:287;CIPOS=0,0;CIEND=0,0;EVENT=85577;SUP=287;PESUP=227;SRSUP=60;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/0:200:158:158:0:0.00:-0,-47,-157:157:0:80:0:0:77:0:0 2 42346259 85762 C <DEL> 512.36 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-1086;END=42347345;STR=+-:204;IMPRECISE;CIPOS=-1,13;CIEND=0,0;EVENT=85762;SUP=204;PESUP=204;SRSUP=0;EVTYPE=PE;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/1:200:92:64:27:512.36:-56,-4,-42:63:26:31:3:2:32:21:0.29 2 43854262 86202 A <DEL> 0.00 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-217;END=43854479;STR=+-:57;CIPOS=0,0;CIEND=0,0;EVENT=86202;SUP=57;PESUP=3;SRSUP=54;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/0:200:149:149:0:0.00:-0,-45,-148:148:0:72:0:0:76:0:0 2 48851192 87923 A <DEL> 0.00 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-6759;END=48857951;STR=+-:521;CIPOS=0,0;CIEND=0,0;EVENT=87923;SUP=521;PESUP=381;SRSUP=140;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/0:200:144:144:0:0.00:-0,-43,-143:143:0:70:0:0:73:0:0 2 48990526 87970 T <DEL> 563.33 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-637;END=48991163;STR=+-:458;CIPOS=0,0;CIEND=0,0;EVENT=87970;SUP=458;PESUP=314;SRSUP=144;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/1:200:95:65:29:563.33:-61,-4,-42:64:28:30:6:3:34:18:0.3 2 49561484 88177 G <DEL> 620.39 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-141;END=49561625;STR=+-:163;CIPOS=0,0;CIEND=0,0;EVENT=88177;SUP=163;PESUP=3;SRSUP=160;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 1/1:53:21:0:21:620.39:-63,-6,-1:0:21:0:21:0:0:0:1 2 51926587 88990 A <DEL> 722.26 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-1179;END=51927766;STR=+-:383;CIPOS=0,0;CIEND=0,0;EVENT=88990;SUP=383;PESUP=273;SRSUP=110;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/1:200:102:66:35:722.26:-75,-3,-40:65:34:25:7:3:40:23:0.34 2 51973823 89011 A <DEL> 1130.11 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-416;END=51974239;STR=+-:76;CIPOS=0,0;CIEND=0,0;EVENT=89011;SUP=76;PESUP=0;SRSUP=76;EVTYPE=SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 0/1:200:115:65:50:1130.11:-115,-2,-34:64:49:31:6:7:33:35:0.43 2 52749686 89272 A <DEL> 1920.26 . TOOL=LUMPY;SVTYPE=DEL;SVLEN=-35583;END=52785269;STR=+-:464;CIPOS=0,0;CIEND=0,0;EVENT=89272;SUP=464;PESUP=363;SRSUP=101;EVTYPE=PE,SR;PRIN GT:GQ:DP:RO:AO:SQ:GL:QR:QA:RS:AS:ASC:RP:AP:AB 1/1:165:66:0:66:1920.26:-195,-20,-3:0:65:0:14:7:0:43:1 2 53166721 89415 G <DEL> 0.00 . 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