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##fileformat=VCFv4.2
##ALT=<ID=NON_REF,Description="Represents any possible alternative allele at this location">
##FILTER=<ID=FS,Description="FS > 30.0">
##FILTER=<ID=LowQual,Description="Low quality">
##FILTER=<ID=QD,Description="QD < 2.0">
##FILTER=<ID=SnpCluster,Description="SNPs found in clusters">
##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=MIN_DP,Number=1,Type=Integer,Description="Minimum DP observed within the GVCF block">
##FORMAT=<ID=PGT,Number=1,Type=String,Description="Physical phasing haplotype information, describing how the alternate alleles are phased in relation to one another">
##FORMAT=<ID=PID,Number=1,Type=String,Description="Physical phasing ID information, where each unique ID within a given sample (but not across samples) connects records within a phasing group">
##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification">
##FORMAT=<ID=RGQ,Number=1,Type=Integer,Description="Unconditional reference genotype confidence, encoded as a phred quality -10*log10 p(genotype call is wrong)">
##FORMAT=<ID=SB,Number=4,Type=Integer,Description="Per-sample component statistics which comprise the Fisher's Exact Test to detect strand bias.">
##INFO=<ID=ANN,Number=.,Type=String,Description="Functional annotations: 'Allele | Annotation | Annotation_Impact | Gene_Name | Gene_ID | Feature_Type | Feature_ID | Transcript_BioType | Rank | HGVS.c | HGVS.p | cDNA.pos / cDNA.length | CDS.pos / CDS.length | AA.pos / AA.length | Distance | ERRORS / WARNINGS / INFO'">
##INFO=<ID=BaseQRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt Vs. Ref base qualities">
##INFO=<ID=ClippingRankSum,Number=1,Type=Float,Description="Z-score From Wilcoxon rank sum test of Alt vs. Ref number of hard clipped bases">
##INFO=<ID=DB,Number=0,Type=Flag,Description="calculated field: DB">
##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=END,Number=1,Type=Integer,Description="Stop position of the interval">
##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=GC,Number=1,Type=Float,Description="GC content around the variant (see docs for window size details)">
##INFO=<ID=HRun,Number=1,Type=Integer,Description="Largest Contiguous Homopolymer Run of Variant Allele In Either Direction">
##INFO=<ID=HaplotypeScore,Number=1,Type=Float,Description="Consistency of the site with at most two segregating haplotypes">
##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=LOF,Number=.,Type=String,Description="Predicted loss of function effects for this variant. Format: 'Gene_Name | Gene_ID | Number_of_transcripts_in_gene | Percent_of_transcripts_affected'">
##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=MQ0,Number=1,Type=Integer,Description="Total Mapping Quality Zero Reads">
##INFO=<ID=MQRankSum,Number=1,Type=Float,Description="Z-score From Wilcoxon rank sum test of Alt vs. Ref read mapping qualities">
##INFO=<ID=NMD,Number=.,Type=String,Description="Predicted nonsense mediated decay effects for this variant. Format: 'Gene_Name | Gene_ID | Number_of_transcripts_in_gene | Percent_of_transcripts_affected'">
##INFO=<ID=QD,Number=1,Type=Float,Description="Variant Confidence/Quality by Depth">
##INFO=<ID=RAW_MQ,Number=1,Type=Float,Description="Raw data for RMS Mapping Quality">
##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">
##SnpEffVersion="4.3t (build 2017-11-24 10:18), by Pablo Cingolani"
##contig=<ID=chr1,length=248956422>
##contig=<ID=chr2,length=242193529>
##contig=<ID=chr3,length=198295559>
##contig=<ID=chr4,length=190214555>
##contig=<ID=chr5,length=181538259>
##contig=<ID=chr6,length=170805979>
##contig=<ID=chr7,length=159345973>
##contig=<ID=chr8,length=145138636>
##contig=<ID=chr9,length=138394717>
##contig=<ID=chr10,length=133797422>
##contig=<ID=chr11,length=135086622>
##contig=<ID=chr12,length=133275309>
##contig=<ID=chr13,length=114364328>
##contig=<ID=chr14,length=107043718>
##contig=<ID=chr15,length=101991189>
##contig=<ID=chr16,length=90338345>
##contig=<ID=chr17,length=83257441>
##contig=<ID=chr18,length=80373285>
##contig=<ID=chr19,length=58617616>
##contig=<ID=chr20,length=64444167>
##contig=<ID=chr21,length=46709983>
##contig=<ID=chr22,length=50818468>
##contig=<ID=chrX,length=156040895>
##contig=<ID=chrY,length=57227415>
##contig=<ID=chrM,length=16569>
##contig=<ID=chr1_KI270706v1_random,length=175055>
##contig=<ID=chr1_KI270707v1_random,length=32032>
##contig=<ID=chr1_KI270708v1_random,length=127682>
##contig=<ID=chr1_KI270709v1_random,length=66860>
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##source=VariantFiltration
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT S1 S10 S11 S12 S13 S14 S15 S16 S17 S18 S19 S2 S20 S21 S22 S23 S24 S25 S26 S27 S28 S29 S3 S30 S31 S32 S33 S34 S35 S36 S37 S38 S39 S4 S40 S41 S42 S43 S44 S45 S46 S47 S48 S49 S5 S50 S51 S52 S53 S54 S56 S57 S58 S59 S6 S60 S61 S62 S63 S64 S65 S66 S67 S68 S69 S7 S70 S71 S72 S73 S74 S8 S9
chr1 235755570 rs61738992 T G 1942.30 PASS AC=31;ANN=G|synonymous_variant|LOW|LYST|ENSG00000143669|transcript|ENST00000389793.6|protein_coding|25/53|c.7137A>C|p.Leu2379Leu|7312/13480|7137/11406|2379/3801||,G|3_prime_UTR_variant|MODIFIER|LYST|ENSG00000143669|transcript|ENST00000389794.7|protein_coding|24/53|c.*2561A>C|||||33243|,G|upstream_gene_variant|MODIFIER|LYST|ENSG00000143669|transcript|ENST00000487530.2|protein_coding||c.-3400A>C|||||3399|WARNING_TRANSCRIPT_INCOMPLETE,G|downstream_gene_variant|MODIFIER|LYST|ENSG00000143669|transcript|ENST00000489585.5|processed_transcript||n.*3605A>C|||||3605|;BaseQRankSum=0.489;ClippingRankSum=0.00;DB;DP=176;ExcessHet=0.7733;FS=0.000;InbreedingCoeff=0.0604;MLEAC=36;MLEAF=0.563;MQ=59.71;MQ0=0;MQRankSum=0.00;QD=18.68;ReadPosRankSum=0.473;SOR=0.900;ac_adj_exac_afr=64;ac_adj_exac_amr=924;ac_adj_exac_eas=0;ac_adj_exac_fin=218;ac_adj_exac_nfe=2215;ac_adj_exac_oth=37;ac_adj_exac_sas=431;ac_exac_all=3889;af_adj_exac_afr=0.0061527;af_adj_exac_amr=0.0798;af_adj_exac_eas=0;af_adj_exac_fin=0.033;af_adj_exac_nfe=0.0332;af_adj_exac_oth=0.0407;af_adj_exac_sas=0.0261;af_esp_aa=0.007035860;af_esp_all=0.025065354;af_esp_ea=0.034302326;af_exac_all=0.032;an_adj_exac_afr=10402;an_adj_exac_amr=11572;an_adj_exac_eas=8648;an_adj_exac_fin=6614;an_adj_exac_nfe=66736;an_adj_exac_oth=908;an_adj_exac_sas=16510;an_exac_all=121390;clinvar_disease_name=Chdiak-Higashi_syndrome|not_specified GT:AD:DP:GQ:PL 0/1:5,3:8:98:98,0,172
|