1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143
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##fileformat=VCFv4.2
##ALT=<ID=INV,Description="Inversion">
##FILTER=<ID=ASSEMBLY_ONLY,Description="Variant is supported only by assembly evidence.">
##FILTER=<ID=ASSEMBLY_TOO_FEW_READ,Description="Not enough reads contribute to this assembly.">
##FILTER=<ID=ASSEMBLY_TOO_SHORT,Description="This assembly is shorter than a read length">
##FILTER=<ID=LOW_BREAKPOINT_SUPPORT,Description="Does not reach the required threshold quality for calling.">
##FILTER=<ID=LOW_QUAL,Description="Low quality call.">
##FILTER=<ID=NO_ASSEMBLY,Description="No assembly supporting this variant could be found.">
##FILTER=<ID=REF,Description="Breakpoint corresponds to reference allele">
##FILTER=<ID=SINGLE_ASSEMBLY,Description="Only one side of the breakpoint could be assembled.">
##FILTER=<ID=SINGLE_SUPPORT,Description="Supported by a single read or read pair only.">
##INFO=<ID=AS,Number=1,Type=Integer,Description="Count of assemblies supporting breakpoint">
##INFO=<ID=ASCRP,Number=.,Type=Integer,Description="Count of read pairs not directly supporting breakpoint incorporated into any breakpoint assembly">
##INFO=<ID=ASCSR,Number=.,Type=Integer,Description="Count of split or soft clipped reads not directly supporting breakpoint incorporated into any breakpoint assemblies">
##INFO=<ID=ASQ,Number=1,Type=Float,Description="Quality score of assemblies supporting breakpoint">
##INFO=<ID=ASRP,Number=.,Type=Integer,Description="Count of read pairs incorporated into any breakpoint assembly">
##INFO=<ID=ASSR,Number=.,Type=Integer,Description="Count of split or soft clipped reads incorporated into any breakpoint assemblies">
##INFO=<ID=BA,Number=1,Type=Integer,Description="Count of assemblies supporting just local breakend">
##INFO=<ID=BAQ,Number=1,Type=Float,Description="Quality score of assemblies supporting just local breakend">
##INFO=<ID=BQ,Number=1,Type=Float,Description="Quality score of breakend evidence after evidence reallocation">
##INFO=<ID=BSC,Number=.,Type=Integer,Description="Count of soft clips supporting just local breakend per category">
##INFO=<ID=BSCQ,Number=.,Type=Float,Description="Quality score of soft clips supporting just local breakend per category">
##INFO=<ID=BUM,Number=.,Type=Integer,Description="Count of read pairs supporting just local breakend per category">
##INFO=<ID=BUMQ,Number=.,Type=Float,Description="Quality score of read pairs supporting just local breakend per category">
##INFO=<ID=CIEND,Number=2,Type=Integer,Description="Confidence interval around END for imprecise variants">
##INFO=<ID=CIGAR,Number=1,Type=String,Description="CIGAR for displaying anchoring alignment of any contributing evidence and microhomologies.">
##INFO=<ID=CIPOS,Number=2,Type=Integer,Description="Confidence interval around POS for imprecise variants">
##INFO=<ID=CIRPOS,Number=2,Type=Integer,Description="Confidence interval around remote breakend POS for imprecise variants">
##INFO=<ID=CQ,Number=1,Type=Float,Description="Breakpoint quality score before evidence reallocation">
##INFO=<ID=END,Number=1,Type=Integer,Description="Stop position of the interval">
##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=IMPRECISE,Number=0,Type=Flag,Description="Imprecise structural variation">
##INFO=<ID=MATEID,Number=.,Type=String,Description="ID of mate breakends">
##INFO=<ID=RAS,Number=1,Type=Integer,Description="Count of assemblies supporting breakpoint from remote breakend">
##INFO=<ID=RASQ,Number=1,Type=Float,Description="Quality score of assemblies supporting breakpoint from remote breakend">
##INFO=<ID=REF,Number=.,Type=Integer,Description="Count of reads mapping across this breakend per category">
##INFO=<ID=REFPAIR,Number=.,Type=Integer,Description="Count of reference read pairs spanning this breakpoint supporting the reference allele per category">
##INFO=<ID=RP,Number=.,Type=Integer,Description="Count of read pairs supporting breakpoint per category">
##INFO=<ID=RPQ,Number=.,Type=Float,Description="Quality score of read pairs supporting breakpoint per category">
##INFO=<ID=RSR,Number=.,Type=Integer,Description="Count of split reads supporting breakpoint from remote breakend per category">
##INFO=<ID=RSRQ,Number=.,Type=Float,Description="Quality score of split reads supporting breakpoint from remote breakend per category">
##INFO=<ID=SELF,Number=0,Type=Flag,Description="Indicates a breakpoint is self-intersecting">
##INFO=<ID=SOMATIC,Number=0,Type=Flag,Description="Somatic event">
##INFO=<ID=SR,Number=.,Type=Integer,Description="Count of split reads supporting breakpoint per category">
##INFO=<ID=SRQ,Number=.,Type=Float,Description="Quality score of split reads supporting breakpoint per category">
##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="Difference in length between REF and ALT alleles">
##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant">
##INFO=<ID=TEST,Number=1,Type=String,Description="Placeholder field used for regression testing.">
##contig=<ID=chr1,length=249250621>
##contig=<ID=chr10,length=135534747>
##contig=<ID=chr11,length=135006516>
##contig=<ID=chr11_gl000202_random,length=40103>
##contig=<ID=chr12,length=133851895>
##contig=<ID=chr13,length=115169878>
##contig=<ID=chr14,length=107349540>
##contig=<ID=chr15,length=102531392>
##contig=<ID=chr16,length=90354753>
##contig=<ID=chr17,length=81195210>
##contig=<ID=chr17_gl000203_random,length=37498>
##contig=<ID=chr17_gl000204_random,length=81310>
##contig=<ID=chr17_gl000205_random,length=174588>
##contig=<ID=chr17_gl000206_random,length=41001>
##contig=<ID=chr18,length=78077248>
##contig=<ID=chr18_gl000207_random,length=4262>
##contig=<ID=chr19,length=59128983>
##contig=<ID=chr19_gl000208_random,length=92689>
##contig=<ID=chr19_gl000209_random,length=159169>
##contig=<ID=chr1_gl000191_random,length=106433>
##contig=<ID=chr1_gl000192_random,length=547496>
##contig=<ID=chr2,length=243199373>
##contig=<ID=chr20,length=63025520>
##contig=<ID=chr21,length=48129895>
##contig=<ID=chr21_gl000210_random,length=27682>
##contig=<ID=chr22,length=51304566>
##contig=<ID=chr3,length=198022430>
##contig=<ID=chr4,length=191154276>
##contig=<ID=chr4_gl000193_random,length=189789>
##contig=<ID=chr4_gl000194_random,length=191469>
##contig=<ID=chr5,length=180915260>
##contig=<ID=chr6,length=171115067>
##contig=<ID=chr7,length=159138663>
##contig=<ID=chr7_gl000195_random,length=182896>
##contig=<ID=chr8,length=146364022>
##contig=<ID=chr8_gl000196_random,length=38914>
##contig=<ID=chr8_gl000197_random,length=37175>
##contig=<ID=chr9,length=141213431>
##contig=<ID=chr9_gl000198_random,length=90085>
##contig=<ID=chr9_gl000199_random,length=169874>
##contig=<ID=chr9_gl000200_random,length=187035>
##contig=<ID=chr9_gl000201_random,length=36148>
##contig=<ID=chrM,length=16571>
##contig=<ID=chrUn_gl000211,length=166566>
##contig=<ID=chrUn_gl000212,length=186858>
##contig=<ID=chrUn_gl000213,length=164239>
##contig=<ID=chrUn_gl000214,length=137718>
##contig=<ID=chrUn_gl000215,length=172545>
##contig=<ID=chrUn_gl000216,length=172294>
##contig=<ID=chrUn_gl000217,length=172149>
##contig=<ID=chrUn_gl000218,length=161147>
##contig=<ID=chrUn_gl000219,length=179198>
##contig=<ID=chrUn_gl000220,length=161802>
##contig=<ID=chrUn_gl000221,length=155397>
##contig=<ID=chrUn_gl000222,length=186861>
##contig=<ID=chrUn_gl000223,length=180455>
##contig=<ID=chrUn_gl000224,length=179693>
##contig=<ID=chrUn_gl000225,length=211173>
##contig=<ID=chrUn_gl000226,length=15008>
##contig=<ID=chrUn_gl000227,length=128374>
##contig=<ID=chrUn_gl000228,length=129120>
##contig=<ID=chrUn_gl000229,length=19913>
##contig=<ID=chrUn_gl000230,length=43691>
##contig=<ID=chrUn_gl000231,length=27386>
##contig=<ID=chrUn_gl000232,length=40652>
##contig=<ID=chrUn_gl000233,length=45941>
##contig=<ID=chrUn_gl000234,length=40531>
##contig=<ID=chrUn_gl000235,length=34474>
##contig=<ID=chrUn_gl000236,length=41934>
##contig=<ID=chrUn_gl000237,length=45867>
##contig=<ID=chrUn_gl000238,length=39939>
##contig=<ID=chrUn_gl000239,length=33824>
##contig=<ID=chrUn_gl000240,length=41933>
##contig=<ID=chrUn_gl000241,length=42152>
##contig=<ID=chrUn_gl000242,length=43523>
##contig=<ID=chrUn_gl000243,length=43341>
##contig=<ID=chrUn_gl000244,length=39929>
##contig=<ID=chrUn_gl000245,length=36651>
##contig=<ID=chrUn_gl000246,length=38154>
##contig=<ID=chrUn_gl000247,length=36422>
##contig=<ID=chrUn_gl000248,length=39786>
##contig=<ID=chrUn_gl000249,length=38502>
##contig=<ID=chrX,length=155270560>
##contig=<ID=chrY,length=59373566>
#CHROM POS ID REF ALT QUAL FILTER INFO
chr1 18992158 gridss2o C CA[chr12:84963533[ 55 LOW_QUAL;SINGLE_ASSEMBLY ASSR=5;CIGAR=66M1X;CQ=55.00;EVENT=gridss2;MATEID=gridss2h;RAS=1;RASQ=55.0;SVTYPE=BND
chr12 84350 gridss39o G ]chr12:4886681]G 627.96 . AS=2;ASQ=201.12915;ASRP=10;ASSR=9;CIGAR=1X239M;CQ=627.96;EVENT=gridss39;MATEID=gridss39h;RAS=1;RASQ=225.70378;REF=7;REFPAIR=2;RP=5;RPQ=86.13501;RSR=1;RSRQ=29.4252;SR=3;SRQ=85.568954;SVTYPE=BND
chr12 4886681 gridss39h T T[chr12:84350[ 627.96 . AS=1;ASQ=225.70378;ASRP=10;ASSR=9;BQ=24.57;BSC=1;BSCQ=24.574617;CIGAR=194M1X;CQ=627.96;EVENT=gridss39;MATEID=gridss39o;RAS=2;RASQ=201.12915;REF=9;REFPAIR=6;RP=5;RPQ=86.13501;RSR=3;RSRQ=85.568954;SR=1;SRQ=29.4252;SVTYPE=BND
chr12 84963533 gridss2h G ]chr1:18992158]AG 55 LOW_QUAL;SINGLE_ASSEMBLY AS=1;ASQ=55.0;ASSR=5;CIGAR=1X95M;CQ=55.00;EVENT=gridss2;MATEID=gridss2o;REF=6;REFPAIR=2;SVTYPE=BND
chr1 146991563 gridss8o T T[chr12:51928058[ 86.14 LOW_QUAL;SINGLE_ASSEMBLY ASRP=8;CIGAR=212M1X;CQ=86.14;EVENT=gridss8;MATEID=gridss8h;RAS=1;RASQ=86.13501;SVTYPE=BND
chr10 14765751 gridss14o G ]chr12:115245865]G 54.47 LOW_QUAL;NO_ASSEMBLY CIGAR=1X31M;CQ=54.47;EVENT=gridss14;MATEID=gridss14h;RSR=2;RSRQ=54.468082;SVTYPE=BND
chr10 129505482 gridss27o A ]chr12:21782455]A 146.06 LOW_QUAL;SINGLE_ASSEMBLY ASSR=5;CIGAR=1X1N1X32M;CIPOS=-1,1;CIRPOS=-1,1;CQ=146.06;EVENT=gridss27;HOMLEN=2;HOMSEQ=AA;MATEID=gridss27h;RAS=1;RASQ=135.06001;RSR=1;RSRQ=11.0;SVTYPE=BND
chr11 63691703 gridss31o G ]chr12:13819897]G 96.82 LOW_QUAL;SINGLE_ASSEMBLY AS=1;ASQ=68.908005;ASRP=4;CIGAR=1X32M;CQ=96.82;EVENT=gridss31;MATEID=gridss31h;RSR=1;RSRQ=27.912775;SVTYPE=BND
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