34 lines
9.9 KiB
Plaintext
34 lines
9.9 KiB
Plaintext
##fileformat=VCFv4.0
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##ALT=<ID=DEL,Description="Deletion">
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##FILTER=<ID=LowQual,Description="Genotype call confidence below LOD 1.3">
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##FORMAT=<ID=CN,Number=1,Type=Integer,Description="Copy number genotype for imprecise events">
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##FORMAT=<ID=CNQ,Number=1,Type=Float,Description="Copy number genotype quality for imprecise events">
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##FORMAT=<ID=FT,Number=-1,Type=String,Description="Per-sample genotype filter, PASS for called genotypes or list of excluding filters">
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##FORMAT=<ID=GL,Number=3,Type=Float,Description="Genotype Likelihoods">
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##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
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##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
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##INFO=<ID=BKPTID,Number=-1,Type=String,Description="ID of the assembled alternate allele in the assembly file">
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##INFO=<ID=CIEND,Number=2,Type=Integer,Description="Confidence interval around END for imprecise variants">
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##INFO=<ID=CIPOS,Number=2,Type=Integer,Description="Confidence interval around POS for imprecise variants">
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##INFO=<ID=DBRIPID,Number=1,Type=String,Description="ID of this element in DBRIP">
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##INFO=<ID=DBVARID,Number=1,Type=String,Description="ID of this element in DBVAR">
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##INFO=<ID=DGVID,Number=1,Type=String,Description="ID of this element in Database of Genomic Variation">
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##INFO=<ID=END,Number=1,Type=Integer,Description="End coordinate of this variant">
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##INFO=<ID=HOMLEN,Number=-1,Type=Integer,Description="Length of base pair identical micro-homology at event breakpoints">
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##INFO=<ID=HOMSEQ,Number=-1,Type=String,Description="Sequence of base pair identical micro-homology at event breakpoints">
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##INFO=<ID=IMPRECISE,Number=0,Type=Flag,Description="Imprecise structural variation">
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##INFO=<ID=MEINFO,Number=4,Type=String,Description="Mobile element info of the form NAME>
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##INFO=<ID=METRANS,Number=4,Type=String,Description="Mobile element transduction info of the form CHR>
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##INFO=<ID=NOVEL,Number=0,Type=Flag,Description="Indicates a novel structural variation">
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##INFO=<ID=SVLEN,Number=-1,Type=Integer,Description="Difference in length between REF and ALT alleles">
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##INFO=<ID=SVMETHOD,Number=-1,Type=String,Description="Type of approach used to detect SV: RP (read pair), RD (read depth), SR (split read), or AS (assembly)">
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##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant">
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##INFO=<ID=VALIDATED,Number=0,Type=Flag,Description="Validated by PCR, Assembly or Microarray">
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##INFO=<ID=VALMETHOD,Number=-1,Type=String,Description="Type of validation: CGH, PCR, SAV (superarray), CAP (capture-array), or ASM (assembly)">
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##fileDate=20100625
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##reference=1000GenomesPilot-NCBI36
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#CHROM POS ID REF ALT QUAL FILTER INFO
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1 61855445 P1_M_061510_1_174 TCTTCTTTTACTTTAGAATTGAAAAATGATAGTGGCCCTGGACCATCAGCAGCCATCTTTCTCCCCTCATGAAAAGAGCACATCCATGGATTTAACTTAACATTAGAGGAGGTACAATGAGAATATGGAAATAGAGCCTAAATAATTTTATTTTGCCCCTAGATCTAGCATATGAGAAGCAAATATGTTCTGCATTTCCCAGTTTATAAGCCAATAAATTCTCCTTTGTGCTTAAAGCATTCGAGTTACATTCTGACACTTGCAACCAAGAATCCTGACAAATACATCTTTGGAATTTGTATCTCCTCTGAATTACAGTGACTGGTACATAGGACTCAAAAATATGTACATAGGACTGGTACATAGTACAGTGACTGGTACATAGGACTTAAAAATATGTTACATGGATGAATGAACAGCTTAGCAAAAGGTCTGGGAATGACCTCTGCGTAAAGTGAATTTCTGCTGCCCCCAAAACTGCCTAGTGTGTGCTGTTCATCAACAATGCACCCACTTCTTGCACTTTGATGTAGAGAGGCCATACCACCTGTGTCTACATGTGGTTACTACTTAAACAATACTTACATAGTTAGCGAGTGGCCAAAATGTCTATTAATCTGTAAACACTTGGAAAGAATCCAGTTTGTATTCTTATTTTCCTGGTTTAAAGTGCTAAATGAACCAAAAGTTAGGGAAGCTCTTTTCAGAAAAGCCATCATGCCTGATCCAATCCACTGAACAAAAGATTTAGGAGCTCTCCATCTGATATTAGTCTTTGGAATAGCCTTGACTTAAGTGTGCTTGAGCCTGTGACTGTGGGTGAAAGTGTGTGAGCGATGATTTTC T . . BKPTID=BROAD_C1.4526;END=61856289;HOMLEN=6;HOMSEQ=CTTCTT;SVLEN=-844;SVTYPE=DEL;VALIDATED;DBVARID=esv10947;VALMETHOD=SAV,ASM;SVMETHOD=SR,RP
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1 61886001 P1_M_061510_1_175 GGGCTTGAGTATCAGAAGATTTTGGTATCTGAGGGGGTCCTGGAACCAATCCCCTGAGAATATCGAGGGAGGATCATTCAATAAAGTACAATGCTAGAGGAAGTCCAAAGTTATGTTGGGAGCATTGTGTGAGGGCACCTAACTTCATCTACAGATCAAAAAAACTTTCCTGAGAAAGTGATATTTAGATTGATAAGAATTTGCAAATAGTGAAGGAAGAGCATTTCAGGCAGAGGGAACAGCATGTTTGAAGGCATGGAGGTGAGAGAAAATTTAGATATTTAACAAATATTTACTGAGTTTTCCCATTGCCAGGCTCTGTATTGGGTGGAAGACCCTGGCACGGAGGAGACTACACCAGGGGACACAGATATGGGAGCAAATGACTTCAAAATAATGTGGTAGGAGCTCTAACAGTGGTCAGCACCGGGCACCAGAGGAGCACTGAAGAGATTGCCTAATCCATCCCAGAAGGGATGGTATTGGAGCTGAGCCTTGACAGACGAGTGAGAATAAAGAAGGAGATGTGGCAAGGTGGGAGACCTGGTCCTTGCCTCTATGGACATAGTCTAGTGGGGAAGTTGGCAAGCTGACTGTATAATACTGATTATAGTGCAGTACAATAAGTGTCTAGGAACAGTGCCTAGCACATAGTAGGCACTTATTAAATATCTGTTGAATAAATTAATGTATAAATGCTGTATAATACTGATTATAGCGCAGAACAATAAGTGTCTGGGAACAGTGTCTGGCACATAGTAGGCACTCGTTAAATATGTGCTGAATAAATGAATGTATAAATGCTGTATGATACTGATTATCATAGAGCACAAAAACTGTCTGGGAACAGTGTCTGGCACATAGTAGGCATTCATTAAACATGTGTTGAATGAATGAATTTATAAATGCTGTGCTAGCGGTGGATACAATCAGGTAGTCCTAGAAACAATTGGGTACTAAATTAAGAGTTACCAACTCCAAGTGCCCATAGAGCTCAGAGCACAAAGAGCTCCAAAAGGGTGAAACATGAACCAGACTTGAAGGAAGGATCAACTCTGTGGGATGAAGGTCGGTAGACATTCATCCTGAGAAGGAAAAACTACCATTGACACCGCTAGAAGTAAAGGGCGAAGAAAACAGGAAATGAGCACAAAGCAGGATTTCTTAATCCAGGGTCCATGGTACTTCTGGGGCTTCTATGAAACCCCAGAGATTATAAGCAAAATCCTAGGTATGTATGAGAAAGGTTATTTTACTGGGGAAAAAGACTAGAACTTTCGTGAAATAGTCAAAGGAATCCAATAAGCCTAAGTAGGTCAAGACTGTCTCGGGGAGAACAGTTAACCTACTTCAGATAGCCTGTGAATCACTTCATTCGTGACAAATAATTATGCCAATGGACTCCCAACACAAAAAACCTTGGGACTGAGTGAGCAGCAGTGGTTTCAGCCCTGCCTTTAAGTGGCATTTTTAGCATTTCCTTGCTGCTGCCTATCAATCCAGACCTATCCACGTTGTCAGGGTATCCTTAGCAGCTGATGGAGATGCCTCTTTCCAAAGGCAATTTACATGCACCAAAGTCCTTCCTCCTAATGATTTTCCAGTAGGGACAATTCCCTCTTGTTAGAATGTCCATTGTTTACATTTATCTGATCTTTTCTCACAATTTCCATTGAGCAGCAGTTGCTACAACCACCTGAGCATCAAATGGGCAATTAATTGGAACAGATTTAATAAATGTACTAGAGAAGGGAGCTGTATGTTTATGGACTACAGTCCTTTCATGGTCATGCATAATGGACCAGACACTTTTCCACCCAGCTGCTTATGCTACCACAGTGAACACAAAATTTACATACCTGGAAGAAAACAGCTTCTGAAACATTATTAATGAATGTAGCGAATTTGTCTGTTAGGATAAGCTATGGTATCTCCATGGCTTAACTTTGCACCATCCTATTCTTGGTTAAAAATATCTACAGTGTCTCCCCTTACTGTCTTCTTTCTAAAATATAATTTTATATTTTAATTGAAGTGGCCCTTTTTCAACCAAGAATCAGGGCGTTGTGAAAGAGCAATGTGCATTCCCCCTGTTTGAAAGCACAGGGAATGTTTAAAGTTTTTAGAATACAAAATAACTTTAGAGCGGAAACCTTAGCAACTAAACTATACTAGTAGGAGTGTAATGTTCAAAGAGGGGGACAATGGTCCCAATCCCCTCAGGGTTAGACACACCACATAAGAAATATTTGTATCCAGTACTTGATGCCACATCCTTCAAGGGATAACCATAGGCCCATGAGGCTGGTAGGTGCTCTCAAAGTGAAGGCAAATGGCAATGGCTAACATTCCATGGAGTTCTTGTTAAGTGCCAAGCACTGTCCATTTAATCTTCACAACTACCCCATAAATAAACAATTAGGGGCCGGGCGCAGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGAATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAGATACAAAAAATTAGCTGGGCATAGTGGTGGGTGCCTATAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATTGCTTGAACCTGTGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACCGCACTCCAGACTGGGTGACAGAGCAAGACTCTGTCCCAAAAAAAAAAAAAAAAGAAGAAAAAAAAAGAAACTATTAGGTTGGTGCAAAAGTAATCGCAGTTTTGCCATTGAAATTAATGGCAAAAACCTCAATTACTTTTGCACCAAGTTAATATTATTATTATCCCCATTTTACAAATAAAGAAACTCAGGGTCATGCACATAGTAAGTGAAGGAACTCAGAGTGCCACTCAGTTCTGTCTGATTTCCATGGACCCTCAGTGTAAGCAGTTGGTATATTTTTAATTAATCTTGCTAGAGATAATTGGTAATTATGACACTGAAATCATTGCAACTGTGTTGTGTGTGCATTAGTCTTGTCTCACCAATCAGAATAAACACACTGTGAAGGCAGTGACCACATTAATTACACACGTTTACTTTCCAGGCTAAGCACAGAGCTGGACTTAAGCAGGTCTTTCTTACATCTTTTGCTGAATAAAATAACCCATTTTGAAATGCTTCAAAAACCAATTTACCCATGAGATTATTGAAGGTGTTGGGGGAAAGGACACTCTGGGGATATGAATCGTTAGGGACATTTTAGAGGACACTTTGTTCATAATTATCAAAATGTAAAATGTGTAAACCCCTTGACCCACAGTTATGTGTCTAGGAGTCTACTCAAACTATTCTATAGAAATGCTGATACATATATGCAAAAATAGATAGAACAATGTATAAAGATACATACATATATATGCAAAGGTATATAATATATATACACCTAAATACGTATATAAATATTCATATATTTCTTTTTTGTTACAGTTCTGTTTATTTTAGCAAAATAAGGAAGAAACAACTTAATTGCCCATCAGCAGGGGAATTGTTAAAAAATTAGGCTACAACCACACCTTACAATACAATATAGCCACTAAAATACTGGAGTAGATGTATTAGGTTAACCATATGAAACTGCCAATGTTTTACTGCTATTGACATAAATAACAATTTCATATGCTTCAACGTAATATATGTACAGATGTGAAAAGATTTATAAGAATATTGGTAGTTGAAAAAAGCAAGTTGCAGAACGGTACCTACAGTATGGCATATTTATGTTTAAGACATAAGACAAACCTATAGAGAATAAACAAGAAAGGTACTCACCAAAAAATTAAGATGGTTATTTCTGGGCATGGCAGTTTTCATATTTTACTCTATAAAGTTCTACATCGTTTTACTCCTTCGTGATGAAAATTTTTTATAATTCCTTGGCTGGGCGCTGTGGCTCATGCTTGTAATTCCAGCACTTTGGGGGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCTACATGGTGAAACCGTGTCTCTACTAAAAATACAAAAATTAGCCGGCCTTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATCGCTTGAACCAGGGAGTCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAATGATACTTTTTAAAAAAAATTTGTTTAATACAACTGATTCCAAAGTATTTACATATTTTGTAAACATTATTTTTCTGATCTACAAGCTCCAAACTCTCAGGAACTCACCATGTTTCTTCACTGGGCCAGACAAGGAGAGTAATAAAGAATTAACCTTAATTATTCAAAGAAATCCAGATGGTGAGAAAAGAGTAAAAAGCAGAACTTCAACTTGGATTATCTCAAGACGATTGCCTGAAAATTTCCTGCTTATTTTTCCTGTTTAAACCTGGCTTTTCAGATGAATGTGAGGTGATCTGCTTTTCTGTGATTCAGAACTTCATAGAATTTGGCAGGCCAAGAATTACAAAGAAAGGAAGAAAATGAAAGGAGGAAAGTGAGGTAGTGAAAGAAGATGGGCAGAACTTGAGAAAGCTTTATAAAGTAACAGAACACACCCCACACCTTTTGGGAACAAAGGAACAAAGCTGATGGAACACAACAGATGTTCTCCTTCCCAAACCATAAAAGCATAACACTCTACAACTCCTCCTCACTCCAAGGAGTGGCCAATGCTCCTTACTGGAATATCTGTACAACAACGGTTTTTGTTGTTATTATTGTTTCCTTAGAACATGGATAAAAAGGAAAAAACACCATTACCAGAAACTGTCAAGTGTGGTTTAACTGTATTATCATTTTATCTTGATTCTTGTTTCTCCCTAACAAATTTCATTGAGGTATAGTTTACATACAACAACATGCACTCATTTTAATTGTACTCATCCATGAGCTTTGACAAAGCAATACACCTATGTCACCACCACTGTAATCAAGATATAGAACATTTCCAACATCCAAAAAGATTCCTTTGTGTCAACATGCTTTGTTCAGAGTGAAATTGAAAAAAAAAATTAAAATTAAACAAAAATGGCCAGGTATGGTGGCTATGCCTGTAATACCAGCACTTTGGGAGGCCCAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACAGCCTGGCCAACATGGAGAAACCTCATCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGCACATCTGTAATCCCAGCTACTTGGGAGGCTGAGACACAAGAATCACTTGAACCCAGGAGGCAGAGGTTACAATGAGCCAAGACTGCACCACTGTGCTCCAGCCTGGGTGACAGAGCAAGACACCATCTCAAAACAAAACAAAAACAAAACCATTCCTTTGTGCTGGTCTATCCCCACTCACAACCCTAGCCCCTGGCAACCACTGGTTGGCTTTCTGTCACTCTAGATTAGATTTTTCTTTAGCATTTCATATAAGTAGAATCACATGGTATGAACTCTTCTGTATGTGACTTCTTTCACTCAGCATAATGTCGTCGAGATTCACCCATGTTGCTGTGTGCATTGATAGTTCACTCCTTTTTCTTGCTGAGTAGTATTCCACTGTGCGGCTAGGCCATGAGCACAGTTGATCCATTCGCCTATTGGTAAAACTTTGGTTGCTTCTAATCTTTGACTACTATGAGTAAAGCTGCTATCAGCATTCGTTTGACTCTTACTTTTGAAGTGAAATTCAAACCTAGCCGTTTTGGTGAGGCATGGAGATGAGAGATAAAACTAGCATTTTTAAGGCACCTACTAAGAGCTGGGTGCAGAAGATGAAAGACGAGGAAAGAGGGGAGCATTCTTTCCATCTCTAAAGAAAGCACAATAAGGATTGCCCTGGCCAGGCACGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGACACCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGATCAATATGGTGAAACTCCGTTTCCACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCTCCTGTAATCCCA G . . BKPTID=BROAD_C1.4527;END=61892108;HOMLEN=1;HOMSEQ=G;SVLEN=-6107;SVTYPE=DEL;VALIDATED;DBVARID=esv14181;VALMETHOD=SAV,ASM;SVMETHOD=SR,RP
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1 61890311 P1_M_061510_1_781 A <DEL> . . CIEND=-380,1920;CIPOS=-1961,339;END=61891330;IMPRECISE;SVLEN=-1019;SVTYPE=DEL;VALIDATED;NOVEL;VALMETHOD=SAV;SVMETHOD=RD
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