##fileformat=VCFv4.1
##source=pseq
##INFO=<ID=AC,Number=-1,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed">
##INFO=<ID=AF,Number=-1,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=CCC,Number=1,Type=Integer,Description="Number of called chromosomes">
##INFO=<ID=CV_ACC,Number=1,Type=String,Description="Variant Accession and Versions">
##INFO=<ID=CV_DISEASE,Number=1,Type=String,Description="Variant disease name">
##INFO=<ID=CV_SIG,Number=1,Type=String,Description="Variant Clinical Significance, 0 - unknown, 1 - untested, 2 - non-pathogenic, 3 - probable-non-pathogenic, 4 - probable-pathogenic, 5 - pathogenic, 6 - drug-response, 7 - histocompatibility, 255 - other">
##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="dbSNP Membership">
##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=Dels,Number=1,Type=Float,Description="Fraction of Reads Containing Spanning Deletions">
##INFO=<ID=END,Number=1,Type=Integer,Description="Stop position of the interval">
##INFO=<ID=FS,Number=1,Type=Float,Description="Phred-scaled p-value using Fisher's exact test to detect strand bias">
##INFO=<ID=GERP_ELEM_RS,Number=-1,Type=Float,Description="GERP++ element RS score">
##INFO=<ID=GERP_NR,Number=1,Type=Float,Description="GERP++ neutral rate for non-zero sites">
##INFO=<ID=GERP_RS,Number=1,Type=Float,Description="GERP++ RS score for non-zero sites. The larger the score, the more conserved the site.">
##INFO=<ID=GQ_MEAN,Number=1,Type=Float,Description="Mean of all GQ values">
##INFO=<ID=GQ_STDDEV,Number=1,Type=Float,Description="Standard deviation of all GQ values">
##INFO=<ID=HGMD_ACC,Number=-1,Type=String,Description="HGMD accession number">
##INFO=<ID=HGMD_CLASS,Number=-1,Type=String,Description="HGMD variant class. One of: disease mutation(DM); disease-associated polymorphism (DP); DFP with functional evidence (DFP); laboratory functional polymorphism (FP); frameshift or truncating variant (FTV).">
##INFO=<ID=HGMD_DISEASE,Number=-1,Type=String,Description="Disease">
##INFO=<ID=HGMD_HGVS,Number=-1,Type=String,Description="HGVS description of variant">
##INFO=<ID=HWP,Number=1,Type=Float,Description="P value from test of Hardy Weinberg Equilibrium">
##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=LRT_PRED,Number=-1,Type=String,Description="LRT Prediction: D (deleterious), N (neutral), U (unknown). From dbNSFP.">
##INFO=<ID=LRT_SCORE,Number=-1,Type=Float,Description="LRT Score. From dbNSFP.">
##INFO=<ID=MLEAC,Number=-1,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=-1,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=MUTST_PRED,Number=-1,Type=String,Description="MutationTaster Prediction: A (disease_causing_automatic), D (disease_causing), N (polymorphism), P (polymorphism_automatic). From dbNSFP.">
##INFO=<ID=MUTST_SCORE,Number=-1,Type=Float,Description="MutationTaster Score. From dbNSFP.">
##INFO=<ID=NCC,Number=1,Type=Integer,Description="Number of no-called samples">
##INFO=<ID=NEGATIVE_TRAIN_SITE,Number=0,Type=Flag,Description="This variant was used to build the negative training set of bad variants">
##INFO=<ID=OMIM_GENE,Number=-1,Type=String,Description="Gene MIM number(s) for ACMG23 variants">
##INFO=<ID=OMIM_PHENO,Number=-1,Type=String,Description="Phenoytpe MIM number(s) for the gene containing this ACMG23 variant (not the variant MIM number)">
##INFO=<ID=OMIM_VAR,Number=-1,Type=String,Description="MIM entry with variant mapped to rsID">
##INFO=<ID=PHEN2_HDIV_PRED,Number=-1,Type=String,Description="Polyphen2 HumDiv Prediction: D (damaging), P (possibly damaging), B (benign). From dbNSFP.">
##INFO=<ID=PHEN2_HDIV_SCORE,Number=-1,Type=Float,Description="Polyphen2 HumDiv Score. From dbNSFP.">
##INFO=<ID=PHEN2_HVAR_PRED,Number=-1,Type=String,Description="Polyphen2 HumVar Prediction: D (damaging), P (possibly damaging), B (benign). From dbNSFP.">
##INFO=<ID=PHEN2_HVAR_SCORE,Number=-1,Type=Float,Description="Polyphen2 HumVar Score. From dbNSFP.">
##INFO=<ID=PHYLOP_SCORE,Number=1,Type=Float,Description="PhyloP score for placental mammals. The larger the score, the more conserved the site">
##INFO=<ID=POSITIVE_TRAIN_SITE,Number=0,Type=Flag,Description="This variant was used to build the positive training set of good variants">
##INFO=<ID=QD,Number=1,Type=Float,Description="Variant Confidence/Quality by Depth">
##INFO=<ID=RPA,Number=-1,Type=Integer,Description="Number of times tandem repeat unit is repeated, for each allele (including reference)">
##INFO=<ID=RU,Number=1,Type=String,Description="Tandem repeat unit (bases)">
##INFO=<ID=ReadPosRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt vs. Ref read position bias">
##INFO=<ID=SIFT_PRED,Number=-1,Type=String,Description="SIFT Prediction: D (damaging), T (tolerated). From dbNSFP.">
##INFO=<ID=SIFT_SCORE,Number=-1,Type=Float,Description="SIFT Score. From dbNSFP.">
##INFO=<ID=SNPEFF_AMINO_ACID_CHANGE,Number=1,Type=String,Description="Old/New amino acid for the highest-impact effect resulting from the current variant (in HGVS style)">
##INFO=<ID=SNPEFF_CODING,Number=0,Type=Flag,Description="Coding annotation for highest-impact effect resulting from the current variant">
##INFO=<ID=SNPEFF_CODON_CHANGE,Number=1,Type=String,Description="Old/New codon for the highest-impact effect resulting from the current variant">
##INFO=<ID=SNPEFF_EFFECT,Number=1,Type=String,Description="The highest-impact effect resulting from the current variant (or one of the highest-impact effects, if there is a tie)">
##INFO=<ID=SNPEFF_EXON_ID,Number=1,Type=String,Description="Exon ID for the highest-impact effect resulting from the current variant">
##INFO=<ID=SNPEFF_FUNCTIONAL_CLASS,Number=1,Type=String,Description="Functional class of the highest-impact effect resulting from the current variant: [NONE, SILENT, MISSENSE, NONSENSE]">
##INFO=<ID=SNPEFF_GENE_BIOTYPE,Number=1,Type=String,Description="Gene biotype for the highest-impact effect resulting from the current variant">
##INFO=<ID=SNPEFF_GENE_NAME,Number=1,Type=String,Description="Gene name for the highest-impact effect resulting from the current variant">
##INFO=<ID=SNPEFF_IMPACT,Number=1,Type=String,Description="Impact of the highest-impact effect resulting from the current variant [MODIFIER, LOW, MODERATE, HIGH]">
##INFO=<ID=SNPEFF_TRANSCRIPT_ID,Number=1,Type=String,Description="Transcript ID for the highest-impact effect resulting from the current variant">
##INFO=<ID=STR,Number=0,Type=Flag,Description="Variant is a short tandem repeat">
##INFO=<ID=S_ACMG23,Number=0,Type=Flag,Description="Variant is ACMG category 2-3">
##INFO=<ID=S_ALT_AF,Number=-1,Type=Float,Description="Variant alternate AFs as calculated from sequencing projects like 1KG, ESP, etc.">
##INFO=<ID=S_RARE,Number=0,Type=Flag,Description="Variant is rare according to specified AF cutoff">
##INFO=<ID=S_REF_AF,Number=1,Type=Float,Description="Variant reference AF as calculated from sequencing projects like 1KG, ESP, etc.">
##INFO=<ID=VQSLOD,Number=1,Type=Float,Description="Log odds ratio of being a true variant versus being false under the trained gaussian mixture model">
##INFO=<ID=culprit,Number=1,Type=String,Description="The annotation which was the worst performing in the Gaussian mixture model, likely the reason why the variant was filtered out">
##INFO=<ID=class,Number=1,Type=String,Description="Classification. One of BENIGN, LIKELYBENIGN, UNKNOWN, LIKELYPATHOGENIC, PATHOGENIC">
##INFO=<ID=pharmgkb_snvs_pharmgkb_snvs_CLINID,Number=1,Type=String,Description="">
##INFO=<ID=pharmgkb_snvs_pharmgkb_snvs_DRUGS,Number=1,Type=String,Description="">
##INFO=<ID=pharmgkb_snvs_pharmgkb_snvs_STRENGTH,Number=1,Type=Integer,Description="">
##INFO=<ID=pharmgkb_snvs_CLINID,Number=1,Type=String,Description="">
##INFO=<ID=pharmgkb_snvs_DRUGS,Number=1,Type=String,Description="">
##INFO=<ID=pharmgkb_snvs_STRENGTH,Number=1,Type=Integer,Description="">
##INFO=<ID=evs_AF,Number=1,Type=Float,Description="Global Allele Frequency based on AC/AN">
##INFO=<ID=evs_AFR_AF,Number=1,Type=Float,Description="Allele Frequency for African American samples based on AC/AN">
##INFO=<ID=evs_EUR_AF,Number=1,Type=Float,Description="Allele Frequency for European American samples based on AC/AN">
##INFO=<ID=g1k_AF,Number=1,Type=Float,Description="Global Allele Frequency based on AC/AN">
##INFO=<ID=g1k_AMR_AF,Number=1,Type=Float,Description="Allele Frequency for samples from AMR based on AC/AN">
##INFO=<ID=g1k_ASN_AF,Number=1,Type=Float,Description="Allele Frequency for samples from ASN based on AC/AN">
##INFO=<ID=g1k_AFR_AF,Number=1,Type=Float,Description="Allele Frequency for samples from AFR based on AC/AN">
##INFO=<ID=g1k_EUR_AF,Number=1,Type=Float,Description="Allele Frequency for samples from EUR based on AC/AN">
##INFO=<ID=dbsnp_dbSNPBuildID,Number=1,Type=Integer,Description="First dbSNP Build for RS">
##INFO=<ID=dbsnp_GMAF,Number=1,Type=Float,Description="Global Minor Allele Frequency [0, 0.5]; global population is 1000GenomesProject phase 1 genotype data from 629 individuals, released in the 11-23-2010 dataset">
##INFO=<ID=hgmd_ACC,Number=1,Type=String,Description="HGMD accession number">
##INFO=<ID=hgmd_CLASS,Number=1,Type=String,Description="HGMD variant class. One of: disease mutation(DM); disease-associated polymorphism (DP); DFP with functional evidence (DFP); laboratory functional polymorphism (FP); frameshift or truncating variant (FTV).">
##INFO=<ID=hgmd_DISEASE,Number=1,Type=String,Description="Disease">
##INFO=<ID=hgmd_HGVS,Number=1,Type=String,Description="HGVS description of variant">
##INFO=<ID=hgmd_NS,Number=0,Type=Flag,Description="Negative strand">
##INFO=<ID=dbsnp_notfunc_dbSNPBuildID,Number=1,Type=Integer,Description="First dbSNP Build for RS">
##INFO=<ID=dbsnp_notfunc_GMAF,Number=1,Type=Float,Description="Global Minor Allele Frequency [0, 0.5]; global population is 1000GenomesProject phase 1 genotype data from 629 individuals, released in the 11-23-2010 dataset">
##INFO=<ID=pharmgkb_snvs,Number=-1,Type=Flag,Description="">
##INFO=<ID=evs,Number=-1,Type=Flag,Description="">
##INFO=<ID=g1k,Number=-1,Type=Flag,Description="">
##INFO=<ID=dbsnp,Number=-1,Type=Flag,Description="">
##INFO=<ID=hgmd,Number=-1,Type=Flag,Description="">
##INFO=<ID=dbsnp_notfunc,Number=-1,Type=Flag,Description="">
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
##FORMAT=<ID=AD,Number=-1,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=MIN_DP,Number=1,Type=Integer,Description="Minimum DP observed within the GVCF block">
##FORMAT=<ID=PL,Number=-1,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification">
##FORMAT=<ID=SB,Number=4,Type=Integer,Description="Per-sample component statistics which comprise the Fisher's Exact Test to detect strand bias.">
##FILTER=<ID=PASS,Description="Passed variant FILTERs">
##FILTER=<ID=LowQual,Description="Low quality">
##FILTER=<ID=VQSRTrancheINDEL99.50to99.75,Description="Truth sensitivity tranche level for INDEL model at VQS Lod: -3.4372 <= x < -1.6515">
##FILTER=<ID=VQSRTrancheINDEL99.75to99.90,Description="Truth sensitivity tranche level for INDEL model at VQS Lod: -7.2709 <= x < -3.4372">
##FILTER=<ID=VQSRTrancheINDEL99.90to99.95,Description="Truth sensitivity tranche level for INDEL model at VQS Lod: -12.7973 <= x < -7.2709">
##FILTER=<ID=VQSRTrancheINDEL99.95to99.98,Description="Truth sensitivity tranche level for INDEL model at VQS Lod: -18.8054 <= x < -12.7973">
##FILTER=<ID=VQSRTrancheINDEL99.98to99.99,Description="Truth sensitivity tranche level for INDEL model at VQS Lod: -25.9914 <= x < -18.8054">
##FILTER=<ID=VQSRTrancheINDEL99.99to100.00,Description="Truth sensitivity tranche level for INDEL model at VQS Lod: -38752.0004 <= x < -25.9914">
##FILTER=<ID=VQSRTrancheINDEL99.99to100.00+,Description="Truth sensitivity tranche level for INDEL model at VQS Lod < -38752.0004">
##FILTER=<ID=VQSRTrancheSNP99.95to99.98,Description="Truth sensitivity tranche level for SNP model at VQS Lod: -17.9812 <= x < -10.4807">
##FILTER=<ID=VQSRTrancheSNP99.98to99.99,Description="Truth sensitivity tranche level for SNP model at VQS Lod: -33.3027 <= x < -17.9812">
##FILTER=<ID=VQSRTrancheSNP99.99to100.00,Description="Truth sensitivity tranche level for SNP model at VQS Lod: -5051.6145 <= x < -33.3027">
##FILTER=<ID=VQSRTrancheSNP99.99to100.00+,Description="Truth sensitivity tranche level for SNP model at VQS Lod < -5051.6145">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	bsr6402
chr22	42522613	rs1135840	G	C	767.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=2.16;ClippingRankSum=-0.989;DB;DP=51;FS=1.083;GERP_NR=4.85;GERP_RS=-2.65;GQ_MEAN=677;HGMD_ACC=CM931123;HGMD_CLASS=FP;HGMD_DISEASE=Poor_metaboliser;HGMD_HGVS=NM_000106.5:c.1457G>C;LRT_PRED=N;LRT_SCORE=0.567358;MLEAC=1;MLEAF=0.5;MQ=59.11;MQ0=0;MQRankSum=1.22;MUTST_PRED=D;MUTST_SCORE=0.50321;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;OMIM_VAR=124030.0007;PHEN2_HDIV_PRED=B,B,B;PHEN2_HDIV_SCORE=0.02,0.02,0.02;PHEN2_HVAR_PRED=B,B,B;PHEN2_HVAR_SCORE=0.023,0.023,0.023;PHYLOP_SCORE=-0.465;POSITIVE_TRAIN_SITE;QD=15.05;ReadPosRankSum=0.443;SIFT_PRED=T;SIFT_SCORE=0.77;SNPEFF_AMINO_ACID_CHANGE=T435S;SNPEFF_CODING;SNPEFF_CODON_CHANGE=aCc/aGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=8;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP2D6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359033;S_ACMG23;S_ALT_AF=0.407;S_REF_AF=0.593;VQSLOD=3.62;culprit=FS	GT:AD:DP:GQ:PL	0/1:25,26:51:99:796,0,677
chr22	42523003	rs116917064	A	G	93.03	PASS	AC=2;AF=1;AN=2;DB;DP=4;FS=0;GERP_NR=4.55;GERP_RS=-3.98;GQ_MEAN=12;MLEAC=2;MLEAF=1;MQ=25.63;MQ0=0;NCC=0;NEGATIVE_TRAIN_SITE;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=-0.768;QD=23.26;SNPEFF_CODING;SNPEFF_CODON_CHANGE=2898;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C22orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000547929;S_RARE;VQSLOD=-1.848;culprit=DP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:121,12,0
chr22	42523209	rs28371730	T	C	2062.77	PASS	AC=2;AF=1;AN=2;DB;DP=52;FS=0;GERP_NR=4.52;GERP_RS=-6.3;GQ_MEAN=156;MLEAC=2;MLEAF=1;MQ=45.84;MQ0=0;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=-0.941;QD=33.72;SNPEFF_CODING;SNPEFF_CODON_CHANGE=3104;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C22orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000547929;S_ALT_AF=0.682;S_REF_AF=0.318;VQSLOD=6.66;culprit=FS	GT:AD:DP:GQ:PL	1/1:0,52:52:99:2091,156,0
chr22	42523211	rs2004511	T	C	967.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=5.09;ClippingRankSum=0.119;DB;DP=53;FS=4.515;GERP_NR=3.73;GERP_RS=-7.47;GQ_MEAN=477;MLEAC=1;MLEAF=0.5;MQ=46.14;MQ0=0;MQRankSum=-2.578;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=-1.473;QD=18.26;ReadPosRankSum=1.66;SNPEFF_CODING;SNPEFF_CODON_CHANGE=3106;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C22orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000547929;S_ALT_AF=0.255;S_REF_AF=0.745;VQSLOD=-0.4092;culprit=QD	GT:AD:DP:GQ:PL	0/1:20,33:53:99:996,0,477
chr22	42523409	rs1985842	G	T	779.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=-1.732;ClippingRankSum=0.272;DB;DP=146;FS=1.542;GERP_NR=4.02;GERP_RS=-6.35;GQ_MEAN=808;MLEAC=1;MLEAF=0.5;MQ=56.08;MQ0=0;MQRankSum=2.5;NCC=0;NEGATIVE_TRAIN_SITE;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=-1.338;QD=5.38;ReadPosRankSum=1.09;SNPEFF_CODING;SNPEFF_CODON_CHANGE=3304;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C22orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000547929;S_ALT_AF=0.288;S_REF_AF=0.712;VQSLOD=-9.611;culprit=DP	GT:AD:DP:GQ:PL	0/1:109,36:145:99:808,0,3304
chr22	42523528	rs1058172	C	T	945.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=2.43;ClippingRankSum=0.656;DB;DP=114;FS=13.075;GERP_ELEM_RS=365.2;GERP_NR=4.93;GERP_RS=4.93;GQ_MEAN=974;LRT_PRED=D;LRT_SCORE=1e-06;MLEAC=1;MLEAF=0.5;MQ=53.06;MQ0=0;MQRankSum=-1.149;MUTST_PRED=D;MUTST_SCORE=0.991937;NCC=0;NEGATIVE_TRAIN_SITE;OMIM_GENE=124030;OMIM_PHENO=608902;PHEN2_HDIV_PRED=D,D,D;PHEN2_HDIV_SCORE=1,0.999,1;PHEN2_HVAR_PRED=D,D,D;PHEN2_HVAR_SCORE=0.999,0.978,0.999;PHYLOP_SCORE=2.283;QD=8.3;ReadPosRankSum=0.597;SIFT_PRED=D;SIFT_SCORE=0;SNPEFF_AMINO_ACID_CHANGE=R314H;SNPEFF_CODING;SNPEFF_CODON_CHANGE=cGc/cAc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=6;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP2D6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359033;S_ACMG23;S_ALT_AF=0.071;S_REF_AF=0.929;VQSLOD=-6.158;culprit=QD	GT:AD:DP:GQ:PL	0/1:74,40:114:99:974,0,2004
chr22	42523636	rs3915951	C	A	173.77	VQSRTrancheSNP99.95to99.98	AC=1;AF=0.5;AN=2;BaseQRankSum=-3.326;ClippingRankSum=-0.157;DB;DP=82;FS=29.311;GERP_ELEM_RS=365.2;GERP_NR=4.93;GERP_RS=3.91;GQ_MEAN=202;LRT_PRED=N;LRT_SCORE=0.065247;MLEAC=1;MLEAF=0.5;MQ=53.92;MQ0=0;MQRankSum=-5.686;MUTST_PRED=N;MUTST_SCORE=0.000291;NCC=0;NEGATIVE_TRAIN_SITE;OMIM_GENE=124030;OMIM_PHENO=608902;PHEN2_HDIV_PRED=B,B,B;PHEN2_HDIV_SCORE=0.004,0.013,0.002;PHEN2_HVAR_PRED=B,B,B;PHEN2_HVAR_SCORE=0.013,0.072,0.013;PHYLOP_SCORE=1.07;QD=2.17;ReadPosRankSum=0.026;SIFT_PRED=T;SIFT_SCORE=0.1;SNPEFF_AMINO_ACID_CHANGE=R278L;SNPEFF_CODING;SNPEFF_CODON_CHANGE=cGc/cTc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=6;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP2D6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359033;S_ACMG23;S_RARE;VQSLOD=-14.02;culprit=QD	GT:AD:DP:GQ:PL	0/1:67,13:80:99:202,0,2092
chr22	42523943	rs16947	A	G	1777.77	PASS	AC=2;AF=1;AN=2;DB;DP=58;FS=0;GERP_ELEM_RS=236.4;GERP_NR=4.45;GERP_RS=-0.156;GQ_MEAN=173;HGMD_ACC=CM930187;HGMD_CLASS=DFP;HGMD_DISEASE=Parkinson_disease,_association_with;HGMD_HGVS=NM_000106.5:c.886C>T;LRT_PRED=N;LRT_SCORE=0.605212;MLEAC=2;MLEAF=1;MQ=59.38;MQ0=0;MUTST_PRED=N;MUTST_SCORE=9.1e-05;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;OMIM_VAR=124030.0007;PHEN2_HDIV_PRED=B,B;PHEN2_HDIV_SCORE=0,0;PHEN2_HVAR_PRED=B,B;PHEN2_HVAR_SCORE=0.001,0.001;PHYLOP_SCORE=-0.119;QD=30.65;SIFT_PRED=D;SIFT_SCORE=0.03;SNPEFF_AMINO_ACID_CHANGE=C245R;SNPEFF_CODING;SNPEFF_CODON_CHANGE=Tgc/Cgc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=5;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP2D6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359033;S_ACMG23;S_ALT_AF=0.608;S_REF_AF=0.392;VQSLOD=6.51;culprit=FS	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1806,173,0
chr22	42524243	rs35742686	CT	C	824.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=-3.798;ClippingRankSum=-1.135;DB;DP=38;FS=1.279;GQ_MEAN=444;HGMD_ACC=CD900279;HGMD_CLASS=FP;HGMD_DISEASE=Poor_metaboliser;HGMD_HGVS=NM_000106.5:c.775delA;MLEAC=1;MLEAF=0.5;MQ=52.58;MQ0=0;MQRankSum=-1.074;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;POSITIVE_TRAIN_SITE;QD=21.7;ReadPosRankSum=-0.59;SNPEFF_AMINO_ACID_CHANGE=-208;SNPEFF_CODING;SNPEFF_CODON_CHANGE=-/-;SNPEFF_EFFECT=FRAME_SHIFT;SNPEFF_EXON_ID=4;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP2D6;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000359033;S_ACMG23;S_ALT_AF=0.012;S_REF_AF=0.988;VQSLOD=2.12;culprit=DP	GT:AD:DP:GQ:PL	0/1:14,24:38:99:853,0,444
chr22	42524696	rs58440431	T	C	883.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=-2.738;ClippingRankSum=-0.191;DB;DP=65;FS=22.15;GERP_NR=2.37;GERP_RS=1.31;GQ_MEAN=756;MLEAC=1;MLEAF=0.5;MQ=53.18;MQ0=0;MQRankSum=-0.666;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=0.335;QD=13.6;ReadPosRankSum=1.43;SNPEFF_CODING;SNPEFF_CODON_CHANGE=4591;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C22orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000547929;S_ALT_AF=0.257;S_REF_AF=0.743;VQSLOD=-0.1073;culprit=FS	GT:AD:DP:GQ:PL	0/1:29,36:65:99:912,0,756
chr22	42524708	rs111564371	T	C	502.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=-0.497;ClippingRankSum=0.18;DB;DP=67;FS=12.787;GERP_NR=1.89;GERP_RS=-3.37;GQ_MEAN=531;MLEAC=1;MLEAF=0.5;MQ=55.44;MQ0=0;MQRankSum=-1.765;NCC=0;NEGATIVE_TRAIN_SITE;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=-0.916;QD=7.5;ReadPosRankSum=-1.88;SNPEFF_CODING;SNPEFF_CODON_CHANGE=4603;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C22orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000547929;S_RARE;VQSLOD=-1.871;culprit=QD	GT:AD:DP:GQ:PL	0/1:50,17:67:99:531,0,2002
chr22	42524713	rs112568578	C	G	566.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=-0.526;ClippingRankSum=-0.757;DB;DP=65;FS=12.525;GERP_NR=0.959;GERP_RS=-1.92;GQ_MEAN=595;MLEAC=1;MLEAF=0.5;MQ=56.59;MQ0=0;MQRankSum=-1.983;NCC=0;NEGATIVE_TRAIN_SITE;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=-1.496;QD=8.72;ReadPosRankSum=-2.474;SNPEFF_CODING;SNPEFF_CODON_CHANGE=4608;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C22orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000547929;S_RARE;VQSLOD=-2.067;culprit=QD	GT:AD:DP:GQ:PL	0/1:46,19:65:99:595,0,1874
chr22	42524743	rs113889384	G	A	546.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=3.35;ClippingRankSum=0.78;DB;DP=76;FS=6.578;GERP_NR=2.09;GERP_RS=-4.19;GQ_MEAN=575;MLEAC=1;MLEAF=0.5;MQ=58.28;MQ0=0;MQRankSum=-1.018;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=-2.193;QD=7.19;ReadPosRankSum=1.2;SNPEFF_CODING;SNPEFF_CODON_CHANGE=1022;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C22orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000549112;S_RARE;VQSLOD=-0.6884;culprit=QD	GT:AD:DP:GQ:PL	0/1:53,23:76:99:575,0,1440
chr22	42524795	.	A	G	468.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=1.61;ClippingRankSum=-1.857;DP=59;FS=3.876;GERP_NR=3.25;GERP_RS=-3.34;GQ_MEAN=497;MLEAC=1;MLEAF=0.5;MQ=58.29;MQ0=0;MQRankSum=0.998;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=-0.936;QD=7.95;ReadPosRankSum=-0.349;SNPEFF_AMINO_ACID_CHANGE=F168;SNPEFF_CODING;SNPEFF_CODON_CHANGE=ttT/ttC;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=3;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP2D6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359033;S_RARE;VQSLOD=0.916;culprit=QD	GT:AD:DP:GQ:PL	0/1:40,19:59:99:497,0,1123
chr22	42524947	rs3892097	C	T	347.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=-1.718;ClippingRankSum=1.83;DB;DP=41;FS=1.309;GERP_NR=3.37;GERP_RS=3.37;GQ_MEAN=376;HGMD_ACC=CS900241;HGMD_CLASS=FP;HGMD_DISEASE=Poor_metaboliser;HGMD_HGVS=NM_000106.5:c.506-1G>A;LRT_PRED=D;LRT_SCORE=2.1e-05;MLEAC=1;MLEAF=0.5;MQ=46.01;MQ0=0;MQRankSum=2.21;MUTST_PRED=D;MUTST_SCORE=0.991213;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;PHEN2_HDIV_PRED=P,D;PHEN2_HDIV_SCORE=0.931,0.99;PHEN2_HVAR_PRED=P,P;PHEN2_HVAR_SCORE=0.798,0.886;PHYLOP_SCORE=2.174;POSITIVE_TRAIN_SITE;QD=8.92;ReadPosRankSum=0.852;SIFT_PRED=D;SIFT_SCORE=0;SNPEFF_CODING;SNPEFF_EFFECT=SPLICE_SITE_ACCEPTOR;SNPEFF_EXON_ID=2;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=nonsense_mediated_decay;SNPEFF_GENE_NAME=CYP2D6;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000360124;S_ACMG23;S_ALT_AF=0.144;S_REF_AF=0.856;VQSLOD=1.55;culprit=QD	GT:AD:DP:GQ:PL	0/1:24,15:39:99:376,0,743
chr22	42525132	rs1058164	G	C	671.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=-0.671;ClippingRankSum=0.847;DB;DP=47;FS=5.972;GERP_ELEM_RS=194.7;GERP_NR=4.09;GERP_RS=-1.1;GQ_MEAN=640;MLEAC=1;MLEAF=0.5;MQ=50.21;MQ0=0;MQRankSum=-3.793;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=-0.116;QD=14.6;ReadPosRankSum=0.847;SNPEFF_AMINO_ACID_CHANGE=V136;SNPEFF_CODING;SNPEFF_CODON_CHANGE=gtC/gtG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=3;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP2D6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000360608;S_ALT_AF=0.393;S_REF_AF=0.607;VQSLOD=-1.6;culprit=MQRankSum	GT:AD:DP:GQ:PL	0/1:22,24:46:99:700,0,640
chr22	42525798	rs28371705	G	C	53.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=-1.724;ClippingRankSum=0.548;DB;DP=29;FS=5.378;GERP_NR=3.46;GERP_RS=-6.92;GQ_MEAN=82;MLEAC=1;MLEAF=0.5;MQ=58.84;MQ0=0;MQRankSum=-0.862;NCC=0;NEGATIVE_TRAIN_SITE;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=-3.097;QD=2.44;ReadPosRankSum=1.65;SNPEFF_AMINO_ACID_CHANGE=T98;SNPEFF_CODING;SNPEFF_CODON_CHANGE=acC/acG;SNPEFF_EFFECT=SYNONYMOUS_CODING;SNPEFF_EXON_ID=2;SNPEFF_FUNCTIONAL_CLASS=SILENT;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP2D6;SNPEFF_IMPACT=LOW;SNPEFF_TRANSCRIPT_ID=ENST00000359033;S_ALT_AF=0.109;S_REF_AF=0.891;VQSLOD=-1.736;culprit=QD	GT:AD:DP:GQ:PL	0/1:17,5:22:82:82,0,489
chr22	42525811	rs28371704	T	C	121.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=-2.65;ClippingRankSum=-1.65;DB;DP=27;FS=2.754;GERP_NR=3.46;GERP_RS=-1.87;GQ_MEAN=150;HGMD_ACC=CM994690;HGMD_CLASS=FP;HGMD_DISEASE=Poor_metaboliser;HGMD_HGVS=NM_000106.5:c.281A>G;LRT_PRED=N;LRT_SCORE=0.818041;MLEAC=1;MLEAF=0.5;MQ=56.72;MQ0=0;MQRankSum=0.05;MUTST_PRED=N;MUTST_SCORE=0.013723;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;PHEN2_HDIV_PRED=B,B;PHEN2_HDIV_SCORE=0,0;PHEN2_HVAR_PRED=B,B;PHEN2_HVAR_SCORE=0.002,0.003;PHYLOP_SCORE=-0.684;QD=6.41;ReadPosRankSum=-0.45;SIFT_PRED=T;SIFT_SCORE=0.49;SNPEFF_AMINO_ACID_CHANGE=H94R;SNPEFF_CODING;SNPEFF_CODON_CHANGE=cAc/cGc;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=2;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP2D6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359033;S_ACMG23;S_ALT_AF=0.068;S_REF_AF=0.932;VQSLOD=-1.459;culprit=QD	GT:AD:DP:GQ:PL	0/1:15,4:19:99:150,0,859
chr22	42525821	rs28371703	G	T	121.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=-1.938;ClippingRankSum=0.619;DB;DP=27;FS=5.843;GERP_ELEM_RS=136.9;GERP_NR=3.46;GERP_RS=2.44;GQ_MEAN=150;HGMD_ACC=CM994689;HGMD_CLASS=FP;HGMD_DISEASE=Poor_metaboliser;HGMD_HGVS=NM_000106.5:c.271C>A;LRT_PRED=N;LRT_SCORE=0.001069;MLEAC=1;MLEAF=0.5;MQ=54.35;MQ0=0;MQRankSum=-0.454;MUTST_PRED=D;MUTST_SCORE=0.636343;NCC=0;NEGATIVE_TRAIN_SITE;OMIM_GENE=124030;OMIM_PHENO=608902;PHEN2_HDIV_PRED=P,P;PHEN2_HDIV_SCORE=0.581,0.696;PHEN2_HVAR_PRED=P,P;PHEN2_HVAR_SCORE=0.839,0.861;PHYLOP_SCORE=1.03;QD=6.09;ReadPosRankSum=-2.186;SIFT_PRED=D;SIFT_SCORE=0.03;SNPEFF_AMINO_ACID_CHANGE=L91M;SNPEFF_CODING;SNPEFF_CODON_CHANGE=Ctg/Atg;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=2;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP2D6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359033;S_ACMG23;S_ALT_AF=0.067;S_REF_AF=0.933;VQSLOD=-2.382;culprit=QD	GT:AD:DP:GQ:PL	0/1:14,6:20:99:150,0,854
chr22	42525952	rs71328650	C	A	192.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=-2.983;ClippingRankSum=-0.488;DB;DP=16;FS=0;GERP_NR=2.95;GERP_RS=-1.77;GQ_MEAN=163;MLEAC=1;MLEAF=0.5;MQ=41.47;MQ0=0;MQRankSum=0.922;NCC=0;NEGATIVE_TRAIN_SITE;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=-0.276;QD=12.05;ReadPosRankSum=1.03;SNPEFF_CODING;SNPEFF_CODON_CHANGE=2231;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C22orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000549112;S_ALT_AF=0.383;S_REF_AF=0.617;VQSLOD=-1.668;culprit=DP	GT:AD:DP:GQ:PL	0/1:6,10:16:99:221,0,163
chr22	42526484	rs28371699	A	C	727.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=-3.294;ClippingRankSum=1.42;DB;DP=80;FS=0;GERP_NR=3.53;GERP_RS=1.4;GQ_MEAN=756;MLEAC=1;MLEAF=0.5;MQ=57.83;MQ0=0;MQRankSum=-1.378;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=0.235;QD=9.1;ReadPosRankSum=0.958;SNPEFF_CODING;SNPEFF_CODON_CHANGE=2763;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C22orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000549112;S_ALT_AF=0.376;S_REF_AF=0.624;VQSLOD=0.274;culprit=QD	GT:AD:DP:GQ:PL	0/1:47,33:80:99:756,0,1399
chr22	42526549	rs56011157	C	T	2715.77	PASS	AC=2;AF=1;AN=2;DB;DP=81;FS=0;GERP_NR=3.68;GERP_RS=-2.26;GQ_MEAN=243;MLEAC=2;MLEAF=1;MQ=55.56;MQ0=0;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=-0.322;QD=33.53;SNPEFF_CODING;SNPEFF_CODON_CHANGE=2828;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C22orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000549112;S_RARE;VQSLOD=5.52;culprit=FS	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2744,243,0
chr22	42526561	rs28695233	G	T	3412.77	PASS	AC=2;AF=1;AN=2;DB;DP=75;FS=0;GERP_NR=2.93;GERP_RS=-2.21;GQ_MEAN=232;MLEAC=2;MLEAF=1;MQ=53.59;MQ0=0;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=-0.33;QD=30.02;SNPEFF_CODING;SNPEFF_CODON_CHANGE=2840;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C22orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000549112;S_RARE;VQSLOD=4.55;culprit=FS	GT:AD:DP:GQ:PL	1/1:0,75:75:99:3441,232,0
chr22	42526562	rs75276289	G	C	3412.77	PASS	AC=2;AF=1;AN=2;DB;DP=74;FS=0;GERP_NR=2.93;GERP_RS=-1.95;GQ_MEAN=232;MLEAC=2;MLEAF=1;MQ=53.32;MQ0=0;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=-0.645;QD=30.27;SNPEFF_CODING;SNPEFF_CODON_CHANGE=2841;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C22orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000549112;S_RARE;VQSLOD=5.23;culprit=FS	GT:AD:DP:GQ:PL	1/1:0,74:74:99:3441,232,0
chr22	42526567	rs76312385	G	A	3256.77	PASS	AC=2;AF=1;AN=2;DB;DP=71;FS=0;GERP_NR=1.95;GERP_RS=-3.89;GQ_MEAN=220;MLEAC=2;MLEAF=1;MQ=52.79;MQ0=0;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=-2.083;QD=29.72;SNPEFF_CODING;SNPEFF_CODON_CHANGE=2846;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C22orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000549112;S_ALT_AF=0.073;S_REF_AF=0.927;VQSLOD=4.57;culprit=FS	GT:AD:DP:GQ:PL	1/1:0,71:71:99:3285,220,0
chr22	42526571	rs74644586	C	G	3166.77	PASS	AC=2;AF=1;AN=2;DB;DP=69;FS=0;GERP_NR=1.95;GERP_RS=-0.776;GQ_MEAN=214;MLEAC=2;MLEAF=1;MQ=52.47;MQ0=0;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=-0.479;QD=29.07;SNPEFF_CODING;SNPEFF_CODON_CHANGE=2850;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C22orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000549112;S_ALT_AF=0.057;S_REF_AF=0.943;VQSLOD=5.44;culprit=FS	GT:AD:DP:GQ:PL	1/1:0,69:69:99:3195,214,0
chr22	42526573	rs1080996	T	G	3179.76	PASS	AC=2;AF=1;AN=2;DB;DP=68;FS=0;GERP_NR=2.73;GERP_RS=-2.53;GQ_MEAN=217;MLEAC=2;MLEAF=1;MQ=52.35;MQ0=0;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=-0.702;QD=30.9;SNPEFF_CODING;SNPEFF_CODON_CHANGE=2852;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C22orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000549112;S_ALT_AF=0.617;S_REF_AF=0.383;VQSLOD=5.22;culprit=FS	GT:AD:DP:GQ:PL	1/1:0,68:68:99:3208,217,0
chr22	42526580	rs1080995	G	C	2988.77	PASS	AC=2;AF=1;AN=2;DB;DP=66;FS=0;GERP_NR=3.01;GERP_RS=0.737;GQ_MEAN=205;MLEAC=2;MLEAF=1;MQ=52.29;MQ0=0;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;PHYLOP_SCORE=0.27;QD=31.4;SNPEFF_CODING;SNPEFF_CODON_CHANGE=2859;SNPEFF_EFFECT=DOWNSTREAM;SNPEFF_FUNCTIONAL_CLASS=NONE;SNPEFF_GENE_BIOTYPE=processed_transcript;SNPEFF_GENE_NAME=C22orf32;SNPEFF_IMPACT=MODIFIER;SNPEFF_TRANSCRIPT_ID=ENST00000549112;S_RARE;VQSLOD=6.1;culprit=FS	GT:AD:DP:GQ:PL	1/1:0,66:66:99:3017,205,0
chr22	42526694	rs1065852	G	A	1249.77	PASS	AC=1;AF=0.5;AN=2;BaseQRankSum=1.17;CV_ACC=RCV000018389.22;CV_DISEASE=Debrisoquine\x2c_poor_metabolism_of;CV_SIG=5;ClippingRankSum=-1.068;DB;DP=70;FS=3.635;GERP_ELEM_RS=192.3;GERP_NR=3.46;GERP_RS=3.46;GQ_MEAN=612;HGMD_ACC=CM900081;HGMD_CLASS=FP;HGMD_DISEASE=Poor_metaboliser;HGMD_HGVS=NM_000106.5:c.100C>T;LRT_PRED=D;LRT_SCORE=1.1e-05;MLEAC=1;MLEAF=0.5;MQ=59.92;MQ0=0;MQRankSum=2.05;MUTST_PRED=D;MUTST_SCORE=0.907008;NCC=0;OMIM_GENE=124030;OMIM_PHENO=608902;OMIM_VAR=124030.0005;PHEN2_HDIV_PRED=D,P;PHEN2_HDIV_SCORE=1,0.946;PHEN2_HVAR_PRED=D,P;PHEN2_HVAR_SCORE=1,0.571;PHYLOP_SCORE=2.218;QD=18.38;ReadPosRankSum=1.55;SIFT_PRED=D;SIFT_SCORE=0.02;SNPEFF_AMINO_ACID_CHANGE=P34S;SNPEFF_CODING;SNPEFF_CODON_CHANGE=Cca/Tca;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=1;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=CYP2D6;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000359033;S_ACMG23;S_ALT_AF=0.198;S_REF_AF=0.802;VQSLOD=0.429;culprit=QD	GT:AD:DP:GQ:PL	0/1:25,43:68:99:1278,0,612