|
| 1 | +##fileformat=VCFv4.2 |
| 2 | +##ALT=<ID=DEL,Description="Deletion",ExtraAltField="extra alt"> |
| 3 | +##ALT=<ID=DUP,Description="Duplication"> |
| 4 | +##ALT=<ID=INS,Description="Insertion"> |
| 5 | +##ALT=<ID=INV,Description="Inversion"> |
| 6 | +##ALT=<ID=INVDUP,Description="InvertedDUP with unknown boundaries"> |
| 7 | +##ALT=<ID=TRA,Description="Translocation"> |
| 8 | +##FILTER=<ID=GATK_STANDARD,Description="Standard GATK filter",ExtraFilterField="extra filter field"> |
| 9 | +##FILTER=<ID=HARD_TO_VALIDATE,Description="Hard to validate"> |
| 10 | +##FORMAT=<ID=AD,Number=R,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed",ExtraFormatField="extra format"> |
| 11 | +##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth (only filtered reads used for calling)"> |
| 12 | +##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality"> |
| 13 | +##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> |
| 14 | +##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification"> |
| 15 | +##INFO=<ID=AB,Number=1,Type=Float,Description="Allele Balance for hets (ref/(ref+alt))",ExtraInfoField="extra info"> |
| 16 | +##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed"> |
| 17 | +##INFO=<ID=AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed"> |
| 18 | +##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> |
| 19 | +##INFO=<ID=BaseQRankSum,Number=1,Type=Float,Description="Phred-scaled p-value From Wilcoxon Rank Sum Test of Alt Vs. Ref base qualities"> |
| 20 | +##INFO=<ID=BaseQRankSumZ,Number=1,Type=Float,Description="Z-score From Wilcoxon Rank Sum Test of Alt Vs. Ref base qualities"> |
| 21 | +##INFO=<ID=DB,Number=0,Type=Flag,Description="dbSNP Membership"> |
| 22 | +##INFO=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth; some reads may have been filtered"> |
| 23 | +##INFO=<ID=DP,Number=1,Type=Integer,Description="Total Depth"> |
| 24 | +##INFO=<ID=DS,Number=0,Type=Flag,Description="Were any of the samples downsampled?"> |
| 25 | +##INFO=<ID=Dels,Number=1,Type=Float,Description="Fraction of Reads Containing Spanning Deletions"> |
| 26 | +##INFO=<ID=HRun,Number=1,Type=Integer,Description="Largest Contiguous Homopolymer Run of Variant Allele In Either Direction"> |
| 27 | +##INFO=<ID=HaplotypeScore,Number=1,Type=Float,Description="Consistency of the site with at most two segregating haplotypes"> |
| 28 | +##INFO=<ID=MQ,Number=1,Type=Float,Description="RMS Mapping Quality"> |
| 29 | +##INFO=<ID=MQ0,Number=1,Type=Integer,Description="Total Mapping Quality Zero Reads"> |
| 30 | +##INFO=<ID=MQRankSum,Number=1,Type=Float,Description="Phred-scaled p-value From Wilcoxon Rank Sum Test of Alt Vs. Ref read mapping qualities"> |
| 31 | +##INFO=<ID=MQRankSumZ,Number=1,Type=Float,Description="Z-score From Wilcoxon Rank Sum Test of Alt Vs. Ref read mapping qualities"> |
| 32 | +##INFO=<ID=QD,Number=1,Type=Float,Description="Variant Confidence/Quality by Depth"> |
| 33 | +##INFO=<ID=ReadPosRankSum,Number=1,Type=Float,Description="Phred-scaled p-value From Wilcoxon Rank Sum Test of Alt Vs. Ref read position bias"> |
| 34 | +##INFO=<ID=ReadPosRankSumZ,Number=1,Type=Float,Description="Z-score From Wilcoxon Rank Sum Test of Alt Vs. Ref read position bias"> |
| 35 | +##INFO=<ID=SB,Number=1,Type=Float,Description="Strand Bias"> |
| 36 | +##INFO=<ID=set,Number=1,Type=String,Description="Source VCF for the merged record in CombineVariants"> |
| 37 | +##contig=<ID=1,length=249250621,assembly=b37,extraContigField="extra contig field"> |
| 38 | +##contig=<ID=10,length=135534747,assembly=b37> |
| 39 | +##contig=<ID=11,length=135006516,assembly=b37> |
| 40 | +##contig=<ID=12,length=133851895,assembly=b37> |
| 41 | +##contig=<ID=13,length=115169878,assembly=b37> |
| 42 | +##contig=<ID=14,length=107349540,assembly=b37> |
| 43 | +##contig=<ID=15,length=102531392,assembly=b37> |
| 44 | +##contig=<ID=16,length=90354753,assembly=b37> |
| 45 | +##contig=<ID=17,length=81195210,assembly=b37> |
| 46 | +##contig=<ID=18,length=78077248,assembly=b37> |
| 47 | +##contig=<ID=19,length=59128983,assembly=b37> |
| 48 | +##contig=<ID=2,length=243199373,assembly=b37> |
| 49 | +##contig=<ID=20,length=63025520,assembly=b37> |
| 50 | +##contig=<ID=21,length=48129895,assembly=b37> |
| 51 | +##contig=<ID=22,length=51304566,assembly=b37> |
| 52 | +##contig=<ID=3,length=198022430,assembly=b37> |
| 53 | +##contig=<ID=4,length=191154276,assembly=b37> |
| 54 | +##contig=<ID=5,length=180915260,assembly=b37> |
| 55 | +##contig=<ID=6,length=171115067,assembly=b37> |
| 56 | +##contig=<ID=7,length=159138663,assembly=b37> |
| 57 | +##contig=<ID=8,length=146364022,assembly=b37> |
| 58 | +##contig=<ID=9,length=141213431,assembly=b37> |
| 59 | +##contig=<ID=X,length=155270560,assembly=b37> |
| 60 | +##contig=<ID=Y,length=59373566,assembly=b37> |
| 61 | +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA19238 NA19239 NA19240 |
| 62 | +1 327 . T <*> 666.18 GATK_STANDARD;HARD_TO_VALIDATE AB=0.74;AC=3;AF=0.50;AN=6;DB=0;DP=936;Dels=0.00;HRun=3;MQ=34.66;MQ0=728;QD=0.71;SB=-268.74;set=filteredIn Both GT:DP:GQ 1/0:10:62 1/0:37:99 1/0:53:99 |
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