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- ##fileformat=VCFv4.2
- ##FILTER=<ID=LowQual,Description="Low quality">
- ##FORMAT=<ID=AD,Number=R,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed">
- ##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth (reads with MQ=255 or with bad mates are filtered)">
- ##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
- ##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
- ##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification">
- ##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="Total number of alleles in called genotypes">
- ##INFO=<ID=BaseQRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt Vs. Ref base qualities">
- ##INFO=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth; some reads may have been filtered">
- ##INFO=<ID=DS,Number=0,Type=Flag,Description="Were any of the samples downsampled?">
- ##INFO=<ID=ExcessHet,Number=1,Type=Float,Description="Phred-scaled p-value for exact test of excess heterozygosity">
- ##INFO=<ID=FS,Number=1,Type=Float,Description="Phred-scaled p-value using Fisher's exact test to detect strand bias">
- ##INFO=<ID=InbreedingCoeff,Number=1,Type=Float,Description="Inbreeding coefficient as estimated from the genotype likelihoods per-sample when compared against the Hardy-Weinberg expectation">
- ##INFO=<ID=MLEAC,Number=A,Type=Integer,Description="Maximum likelihood expectation (MLE) for the allele counts (not necessarily the same as the AC), for each ALT allele, in the same order as listed">
- ##INFO=<ID=MLEAF,Number=A,Type=Float,Description="Maximum likelihood expectation (MLE) for the allele frequency (not necessarily the same as the AF), for each ALT allele, in the same order as listed">
- ##INFO=<ID=MQ,Number=1,Type=Float,Description="RMS Mapping Quality">
- ##INFO=<ID=MQRankSum,Number=1,Type=Float,Description="Z-score From Wilcoxon rank sum test of Alt vs. Ref read mapping qualities">
- ##INFO=<ID=QD,Number=1,Type=Float,Description="Variant Confidence/Quality by Depth">
- ##INFO=<ID=ReadPosRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt vs. Ref read position bias">
- ##INFO=<ID=SOR,Number=1,Type=Float,Description="Symmetric Odds Ratio of 2x2 contingency table to detect strand bias">
- ##contig=<ID=chrM,length=16571>
- ##contig=<ID=chr1,length=249250621>
- ##contig=<ID=chr2,length=243199373>
- ##contig=<ID=chr3,length=198022430>
- ##contig=<ID=chr4,length=191154276>
- ##contig=<ID=chr5,length=180915260>
- ##contig=<ID=chr6,length=171115067>
- ##contig=<ID=chr7,length=159138663>
- ##contig=<ID=chr8,length=146364022>
- ##contig=<ID=chr9,length=141213431>
- ##contig=<ID=chr10,length=135534747>
- ##contig=<ID=chr11,length=135006516>
- ##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=chr18,length=78077248>
- ##contig=<ID=chr19,length=59128983>
- ##contig=<ID=chr20,length=63025520>
- ##contig=<ID=chr21,length=48129895>
- ##contig=<ID=chr22,length=51304566>
- ##contig=<ID=chrX,length=155270560>
- ##contig=<ID=chrY,length=59373566>
- ##contig=<ID=chr1_gl000191_random,length=106433>
- ##contig=<ID=chr1_gl000192_random,length=547496>
- ##contig=<ID=chr4_ctg9_hap1,length=590426>
- ##contig=<ID=chr4_gl000193_random,length=189789>
- ##contig=<ID=chr4_gl000194_random,length=191469>
- ##contig=<ID=chr6_apd_hap1,length=4622290>
- ##contig=<ID=chr6_cox_hap2,length=4795371>
- ##contig=<ID=chr6_dbb_hap3,length=4610396>
- ##contig=<ID=chr6_mann_hap4,length=4683263>
- ##contig=<ID=chr6_mcf_hap5,length=4833398>
- ##contig=<ID=chr6_mcf_hap5,length=4833398>
- ##contig=<ID=chr6_qbl_hap6,length=4611984>
- ##contig=<ID=chr6_ssto_hap7,length=4928567>
- ##contig=<ID=chr7_gl000195_random,length=182896>
- ##contig=<ID=chr8_gl000196_random,length=38914>
- ##contig=<ID=chr8_gl000197_random,length=37175>
- ##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=chr11_gl000202_random,length=40103>
- ##contig=<ID=chr17_ctg5_hap1,length=1680828>
- ##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_gl000207_random,length=4262>
- ##contig=<ID=chr19_gl000208_random,length=92689>
- ##contig=<ID=chr19_gl000209_random,length=159169>
- ##contig=<ID=chr21_gl000210_random,length=27682>
- ##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>
- ##source=HaplotypeCaller
- ##INFO=<ID=ANNOVAR_DATE,Number=1,Type=String,Description="Flag the start of ANNOVAR annotation for one alternative allele">
- ##INFO=<ID=Func.refGene,Number=.,Type=String,Description="Func.refGene annotation provided by ANNOVAR">
- ##INFO=<ID=Gene.refGene,Number=.,Type=String,Description="Gene.refGene annotation provided by ANNOVAR">
- ##INFO=<ID=GeneDetail.refGene,Number=.,Type=String,Description="GeneDetail.refGene annotation provided by ANNOVAR">
- ##INFO=<ID=ExonicFunc.refGene,Number=.,Type=String,Description="ExonicFunc.refGene annotation provided by ANNOVAR">
- ##INFO=<ID=AAChange.refGene,Number=.,Type=String,Description="AAChange.refGene annotation provided by ANNOVAR">
- ##INFO=<ID=PopFreqMax,Number=.,Type=String,Description="PopFreqMax annotation provided by ANNOVAR">
- ##INFO=<ID=SIFT_score,Number=.,Type=String,Description="SIFT_score annotation provided by ANNOVAR">
- ##INFO=<ID=SIFT_pred,Number=.,Type=String,Description="SIFT_pred annotation provided by ANNOVAR">
- ##INFO=<ID=Polyphen2_HDIV_score,Number=.,Type=String,Description="Polyphen2_HDIV_score annotation provided by ANNOVAR">
- ##INFO=<ID=Polyphen2_HDIV_pred,Number=.,Type=String,Description="Polyphen2_HDIV_pred annotation provided by ANNOVAR">
- ##INFO=<ID=Polyphen2_HVAR_score,Number=.,Type=String,Description="Polyphen2_HVAR_score annotation provided by ANNOVAR">
- ##INFO=<ID=Polyphen2_HVAR_pred,Number=.,Type=String,Description="Polyphen2_HVAR_pred annotation provided by ANNOVAR">
- ##INFO=<ID=LRT_score,Number=.,Type=String,Description="LRT_score annotation provided by ANNOVAR">
- ##INFO=<ID=LRT_pred,Number=.,Type=String,Description="LRT_pred annotation provided by ANNOVAR">
- ##INFO=<ID=MutationTaster_score,Number=.,Type=String,Description="MutationTaster_score annotation provided by ANNOVAR">
- ##INFO=<ID=MutationTaster_pred,Number=.,Type=String,Description="MutationTaster_pred annotation provided by ANNOVAR">
- ##INFO=<ID=MutationAssessor_score,Number=.,Type=String,Description="MutationAssessor_score annotation provided by ANNOVAR">
- ##INFO=<ID=MutationAssessor_pred,Number=.,Type=String,Description="MutationAssessor_pred annotation provided by ANNOVAR">
- ##INFO=<ID=FATHMM_score,Number=.,Type=String,Description="FATHMM_score annotation provided by ANNOVAR">
- ##INFO=<ID=FATHMM_pred,Number=.,Type=String,Description="FATHMM_pred annotation provided by ANNOVAR">
- ##INFO=<ID=PROVEAN_score,Number=.,Type=String,Description="PROVEAN_score annotation provided by ANNOVAR">
- ##INFO=<ID=PROVEAN_pred,Number=.,Type=String,Description="PROVEAN_pred annotation provided by ANNOVAR">
- ##INFO=<ID=VEST3_score,Number=.,Type=String,Description="VEST3_score annotation provided by ANNOVAR">
- ##INFO=<ID=CADD_raw,Number=.,Type=String,Description="CADD_raw annotation provided by ANNOVAR">
- ##INFO=<ID=CADD_phred,Number=.,Type=String,Description="CADD_phred annotation provided by ANNOVAR">
- ##INFO=<ID=DANN_score,Number=.,Type=String,Description="DANN_score annotation provided by ANNOVAR">
- ##INFO=<ID=fathmm-MKL_coding_score,Number=.,Type=String,Description="fathmm-MKL_coding_score annotation provided by ANNOVAR">
- ##INFO=<ID=fathmm-MKL_coding_pred,Number=.,Type=String,Description="fathmm-MKL_coding_pred annotation provided by ANNOVAR">
- ##INFO=<ID=MetaSVM_score,Number=.,Type=String,Description="MetaSVM_score annotation provided by ANNOVAR">
- ##INFO=<ID=MetaSVM_pred,Number=.,Type=String,Description="MetaSVM_pred annotation provided by ANNOVAR">
- ##INFO=<ID=MetaLR_score,Number=.,Type=String,Description="MetaLR_score annotation provided by ANNOVAR">
- ##INFO=<ID=MetaLR_pred,Number=.,Type=String,Description="MetaLR_pred annotation provided by ANNOVAR">
- ##INFO=<ID=integrated_fitCons_score,Number=.,Type=String,Description="integrated_fitCons_score annotation provided by ANNOVAR">
- ##INFO=<ID=integrated_confidence_value,Number=.,Type=String,Description="integrated_confidence_value annotation provided by ANNOVAR">
- ##INFO=<ID=GERP++_RS,Number=.,Type=String,Description="GERP++_RS annotation provided by ANNOVAR">
- ##INFO=<ID=phyloP7way_vertebrate,Number=.,Type=String,Description="phyloP7way_vertebrate annotation provided by ANNOVAR">
- ##INFO=<ID=phyloP20way_mammalian,Number=.,Type=String,Description="phyloP20way_mammalian annotation provided by ANNOVAR">
- ##INFO=<ID=phastCons7way_vertebrate,Number=.,Type=String,Description="phastCons7way_vertebrate annotation provided by ANNOVAR">
- ##INFO=<ID=phastCons20way_mammalian,Number=.,Type=String,Description="phastCons20way_mammalian annotation provided by ANNOVAR">
- ##INFO=<ID=SiPhy_29way_logOdds,Number=.,Type=String,Description="SiPhy_29way_logOdds annotation provided by ANNOVAR">
- ##INFO=<ID=tfbsConsSites,Number=.,Type=String,Description="tfbsConsSites annotation provided by ANNOVAR">
- ##INFO=<ID=targetScanS,Number=.,Type=String,Description="targetScanS annotation provided by ANNOVAR">
- ##INFO=<ID=genomicSuperDups,Number=.,Type=String,Description="genomicSuperDups annotation provided by ANNOVAR">
- ##INFO=<ID=CLINSIG,Number=.,Type=String,Description="CLINSIG annotation provided by ANNOVAR">
- ##INFO=<ID=CLNDBN,Number=.,Type=String,Description="CLNDBN annotation provided by ANNOVAR">
- ##INFO=<ID=CLNACC,Number=.,Type=String,Description="CLNACC annotation provided by ANNOVAR">
- ##INFO=<ID=CLNDSDB,Number=.,Type=String,Description="CLNDSDB annotation provided by ANNOVAR">
- ##INFO=<ID=CLNDSDBID,Number=.,Type=String,Description="CLNDSDBID annotation provided by ANNOVAR">
- ##INFO=<ID=cosmic82,Number=.,Type=String,Description="cosmic82 annotation provided by ANNOVAR">
- ##INFO=<ID=avsnp147,Number=.,Type=String,Description="avsnp147 annotation provided by ANNOVAR">
- ##INFO=<ID=rmsk,Number=.,Type=String,Description="rmsk annotation provided by ANNOVAR">
- ##INFO=<ID=wgEncodeDacMapabilityConsensusExcludable,Number=.,Type=String,Description="wgEncodeDacMapabilityConsensusExcludable annotation provided by ANNOVAR">
- ##INFO=<ID=wgEncodeDukeMapabilityRegionsExcludable,Number=.,Type=String,Description="wgEncodeDukeMapabilityRegionsExcludable annotation provided by ANNOVAR">
- ##INFO=<ID=gnomAD_genome_ALL,Number=.,Type=String,Description="gnomAD_genome_ALL annotation provided by ANNOVAR">
- ##INFO=<ID=gnomAD_genome_AFR,Number=.,Type=String,Description="gnomAD_genome_AFR annotation provided by ANNOVAR">
- ##INFO=<ID=gnomAD_genome_AMR,Number=.,Type=String,Description="gnomAD_genome_AMR annotation provided by ANNOVAR">
- ##INFO=<ID=gnomAD_genome_ASJ,Number=.,Type=String,Description="gnomAD_genome_ASJ annotation provided by ANNOVAR">
- ##INFO=<ID=gnomAD_genome_EAS,Number=.,Type=String,Description="gnomAD_genome_EAS annotation provided by ANNOVAR">
- ##INFO=<ID=gnomAD_genome_FIN,Number=.,Type=String,Description="gnomAD_genome_FIN annotation provided by ANNOVAR">
- ##INFO=<ID=gnomAD_genome_NFE,Number=.,Type=String,Description="gnomAD_genome_NFE annotation provided by ANNOVAR">
- ##INFO=<ID=gnomAD_genome_OTH,Number=.,Type=String,Description="gnomAD_genome_OTH annotation provided by ANNOVAR">
- ##INFO=<ID=gnomAD_exome_ALL,Number=.,Type=String,Description="gnomAD_exome_ALL annotation provided by ANNOVAR">
- ##INFO=<ID=gnomAD_exome_AFR,Number=.,Type=String,Description="gnomAD_exome_AFR annotation provided by ANNOVAR">
- ##INFO=<ID=gnomAD_exome_AMR,Number=.,Type=String,Description="gnomAD_exome_AMR annotation provided by ANNOVAR">
- ##INFO=<ID=gnomAD_exome_ASJ,Number=.,Type=String,Description="gnomAD_exome_ASJ annotation provided by ANNOVAR">
- ##INFO=<ID=gnomAD_exome_EAS,Number=.,Type=String,Description="gnomAD_exome_EAS annotation provided by ANNOVAR">
- ##INFO=<ID=gnomAD_exome_FIN,Number=.,Type=String,Description="gnomAD_exome_FIN annotation provided by ANNOVAR">
- ##INFO=<ID=gnomAD_exome_NFE,Number=.,Type=String,Description="gnomAD_exome_NFE annotation provided by ANNOVAR">
- ##INFO=<ID=gnomAD_exome_OTH,Number=.,Type=String,Description="gnomAD_exome_OTH annotation provided by ANNOVAR">
- ##INFO=<ID=gnomAD_exome_SAS,Number=.,Type=String,Description="gnomAD_exome_SAS annotation provided by ANNOVAR">
- ##INFO=<ID=ExAC_ALL,Number=.,Type=String,Description="ExAC_ALL annotation provided by ANNOVAR">
- ##INFO=<ID=ExAC_AFR,Number=.,Type=String,Description="ExAC_AFR annotation provided by ANNOVAR">
- ##INFO=<ID=ExAC_AMR,Number=.,Type=String,Description="ExAC_AMR annotation provided by ANNOVAR">
- ##INFO=<ID=ExAC_EAS,Number=.,Type=String,Description="ExAC_EAS annotation provided by ANNOVAR">
- ##INFO=<ID=ExAC_FIN,Number=.,Type=String,Description="ExAC_FIN annotation provided by ANNOVAR">
- ##INFO=<ID=ExAC_NFE,Number=.,Type=String,Description="ExAC_NFE annotation provided by ANNOVAR">
- ##INFO=<ID=ExAC_OTH,Number=.,Type=String,Description="ExAC_OTH annotation provided by ANNOVAR">
- ##INFO=<ID=ExAC_SAS,Number=.,Type=String,Description="ExAC_SAS annotation provided by ANNOVAR">
- ##INFO=<ID=InterVar(automated),Number=.,Type=String,Description="InterVar(automated) annotation provided by ANNOVAR">
- ##INFO=<ID=PVS1,Number=.,Type=String,Description="PVS1 annotation provided by ANNOVAR">
- ##INFO=<ID=PS1,Number=.,Type=String,Description="PS1 annotation provided by ANNOVAR">
- ##INFO=<ID=PS2,Number=.,Type=String,Description="PS2 annotation provided by ANNOVAR">
- ##INFO=<ID=PS3,Number=.,Type=String,Description="PS3 annotation provided by ANNOVAR">
- ##INFO=<ID=PS4,Number=.,Type=String,Description="PS4 annotation provided by ANNOVAR">
- ##INFO=<ID=PM1,Number=.,Type=String,Description="PM1 annotation provided by ANNOVAR">
- ##INFO=<ID=PM2,Number=.,Type=String,Description="PM2 annotation provided by ANNOVAR">
- ##INFO=<ID=PM3,Number=.,Type=String,Description="PM3 annotation provided by ANNOVAR">
- ##INFO=<ID=PM4,Number=.,Type=String,Description="PM4 annotation provided by ANNOVAR">
- ##INFO=<ID=PM5,Number=.,Type=String,Description="PM5 annotation provided by ANNOVAR">
- ##INFO=<ID=PM6,Number=.,Type=String,Description="PM6 annotation provided by ANNOVAR">
- ##INFO=<ID=PP1,Number=.,Type=String,Description="PP1 annotation provided by ANNOVAR">
- ##INFO=<ID=PP2,Number=.,Type=String,Description="PP2 annotation provided by ANNOVAR">
- ##INFO=<ID=PP3,Number=.,Type=String,Description="PP3 annotation provided by ANNOVAR">
- ##INFO=<ID=PP4,Number=.,Type=String,Description="PP4 annotation provided by ANNOVAR">
- ##INFO=<ID=PP5,Number=.,Type=String,Description="PP5 annotation provided by ANNOVAR">
- ##INFO=<ID=BA1,Number=.,Type=String,Description="BA1 annotation provided by ANNOVAR">
- ##INFO=<ID=BS1,Number=.,Type=String,Description="BS1 annotation provided by ANNOVAR">
- ##INFO=<ID=BS2,Number=.,Type=String,Description="BS2 annotation provided by ANNOVAR">
- ##INFO=<ID=BS3,Number=.,Type=String,Description="BS3 annotation provided by ANNOVAR">
- ##INFO=<ID=BS4,Number=.,Type=String,Description="BS4 annotation provided by ANNOVAR">
- ##INFO=<ID=BP1,Number=.,Type=String,Description="BP1 annotation provided by ANNOVAR">
- ##INFO=<ID=BP2,Number=.,Type=String,Description="BP2 annotation provided by ANNOVAR">
- ##INFO=<ID=BP3,Number=.,Type=String,Description="BP3 annotation provided by ANNOVAR">
- ##INFO=<ID=BP4,Number=.,Type=String,Description="BP4 annotation provided by ANNOVAR">
- ##INFO=<ID=BP5,Number=.,Type=String,Description="BP5 annotation provided by ANNOVAR">
- ##INFO=<ID=BP6,Number=.,Type=String,Description="BP6 annotation provided by ANNOVAR">
- ##INFO=<ID=BP7,Number=.,Type=String,Description="BP7 annotation provided by ANNOVAR">
- ##INFO=<ID=REVEL,Number=.,Type=String,Description="REVEL annotation provided by ANNOVAR">
- ##INFO=<ID=dgvMerged,Number=.,Type=String,Description="dgvMerged annotation provided by ANNOVAR">
- ##INFO=<ID=ALLELE_END,Number=0,Type=Flag,Description="Flag the end of ANNOVAR annotation for one alternative allele">
- #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT
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