Mercurial > repos > saket-choudhary > vep_rest

annotate vep_rest/test-data/vep_input.vcf @ 1:3645d1bcc7bb draft default tip

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author saket-choudhary
date Sat, 18 Oct 2014 04:03:13 -0400
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1
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1 ##fileformat=VCFv4.1
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2 ##source=COSMICv70
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3 ##reference=GRCh37
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4 ##fileDate=20140805
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5 ##comment="Missing nucleotide details indicate ambiguity during curation process"
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6 ##comment="URL stub for COSM ID field (use numeric portion of ID)='http://cancer.sanger.ac.uk/cosmic/mutation/overview?id='"
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7 ##comment="REF and ALT sequences are both forward strand
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8 ##INFO=<ID=GENE,Number=1,Type=String,Description="Gene name">
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9 ##INFO=<ID=STRAND,Number=1,Type=String,Description="Gene strand">
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10 ##INFO=<ID=CDS,Number=1,Type=String,Description="CDS annotation">
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11 ##INFO=<ID=AA,Number=1,Type=String,Description="Peptide annotation">
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12 ##INFO=<ID=CNT,Number=1,Type=Integer,Description="How many samples have this mutation">
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13 #CHROM POS ID REF ALT QUAL FILTER INFO
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14 1 69345 COSM911918 C A . . GENE=OR4F5;STRAND=+;CDS=c.255C>A;AA=p.I85I;CNT=1
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15 1 69523 COSM426644 G T . . GENE=OR4F5;STRAND=+;CDS=c.433G>T;AA=p.G145C;CNT=1
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16 1 69538 COSM75742 G A . . GENE=OR4F5;STRAND=+;CDS=c.448G>A;AA=p.V150M;CNT=1
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17 1 69539 COSM1343690 T C . . GENE=OR4F5;STRAND=+;CDS=c.449T>C;AA=p.V150A;CNT=1
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18 1 69540 COSM1560546 G T . . GENE=OR4F5;STRAND=+;CDS=c.450G>T;AA=p.V150V;CNT=1
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19 1 69569 COSM1599955 T C . . GENE=OR4F5;STRAND=+;CDS=c.479T>C;AA=p.L160P;CNT=2
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20 1 69591 COSM3419425 C T . . GENE=OR4F5;STRAND=+;CDS=c.501C>T;AA=p.V167V;CNT=1
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21 1 861390 COSM460103 G C . . GENE=SAMD11;STRAND=+;CDS=c.69G>C;AA=p.P23P;CNT=1
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22 1 865609 COSM336143 C T . . GENE=SAMD11;STRAND=+;CDS=c.147C>T;AA=p.P49P;CNT=1
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23 1 865617 COSM3790304 C G . . GENE=SAMD11;STRAND=+;CDS=c.155C>G;AA=p.S52C;CNT=1
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24 1 865624 COSM912740 C T . . GENE=SAMD11;STRAND=+;CDS=c.162C>T;AA=p.S54S;CNT=1
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25 1 865658 COSM364168 G T . . GENE=SAMD11;STRAND=+;CDS=c.196G>T;AA=p.G66W;CNT=1
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26 1 865691 COSM1686856 C T . . GENE=SAMD11;STRAND=+;CDS=c.229C>T;AA=p.P77S;CNT=1
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27 1 865716 COSM1735520 G A . . GENE=SAMD11;STRAND=+;CDS=c.254G>A;AA=p.R85K;CNT=1
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28 1 866438 COSM3386379 G A . . GENE=SAMD11;STRAND=+;CDS=c.274G>A;AA=p.V92M;CNT=1
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29 1 871165 COSM3711402 C A . . GENE=SAMD11;STRAND=+;CDS=c.319C>A;AA=p.L107I;CNT=1
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30 1 871217 COSM3667588 A C . . GENE=SAMD11;STRAND=+;CDS=c.371A>C;AA=p.E124A;CNT=1
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31 1 871255 COSM414754 G A . . GENE=SAMD11;STRAND=+;CDS=c.409G>A;AA=p.E137K;CNT=1
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32 1 874447 COSM178082 G A . . GENE=SAMD11;STRAND=+;CDS=c.458G>A;AA=p.R153H;CNT=1
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33 1 874456 COSM178083 G C . . GENE=SAMD11;STRAND=+;CDS=c.467G>C;AA=p.R156P;CNT=1
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34 1 874465 COSM112049 G GC . . GENE=SAMD11;STRAND=+;CDS=c.476_477insC;AA=p.D160fs*47;CNT=1
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35 1 874497 COSM912847 G A . . GENE=SAMD11;STRAND=+;CDS=c.508G>A;AA=p.E170K;CNT=1
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36 1 874501 COSM912848 C T . . GENE=SAMD11;STRAND=+;CDS=c.512C>T;AA=p.S171L;CNT=1
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37 1 874504 COSM1659453 C G . . GENE=SAMD11;STRAND=+;CDS=c.515C>G;AA=p.P172R;CNT=1
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38 1 874778 COSM1344642 GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA G . . GENE=SAMD11;STRAND=+;CDS=c.645_692del48;AA=p.G220_H235del16;CNT=2
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39 1 874781 COSM1344643 T TC . . GENE=SAMD11;STRAND=+;CDS=c.647_648insC;AA=p.S218fs*4;CNT=1
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40 1 874816 COSM1344644 C CT . . GENE=SAMD11;STRAND=+;CDS=c.682_683insT;AA=p.P228fs*227;CNT=3