##fileformat=VCFv4.1
##CombineVariants="analysis_type=CombineVariants input_file=[] read_buffer_size=null phone_home=STANDARD gatk_key=null read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/superpipe/reference/hg19.edited/hg19.edited.fasta nonDeterministicRandomSeed=false downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 defaultBaseQualities=-1 validation_strictness=SILENT remove_program_records=false keep_program_records=false unsafe=null num_threads=1 num_cpu_threads=null num_io_threads=null num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false logging_level=INFO log_to_file=null help=false variant=[(RodBinding name=variant source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr19/snps.gatk.vcf), (RodBinding name=variant2 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr19/indels.gatk.vcf), (RodBinding name=variant3 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr6/snps.gatk.vcf), (RodBinding name=variant4 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr6/indels.gatk.vcf), (RodBinding name=variant5 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr16/snps.gatk.vcf), (RodBinding name=variant6 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr16/indels.gatk.vcf), (RodBinding name=variant7 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr15/snps.gatk.vcf), (RodBinding name=variant8 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr15/indels.gatk.vcf), (RodBinding name=variant9 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr12/snps.gatk.vcf), (RodBinding name=variant10 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr12/indels.gatk.vcf), (RodBinding name=variant11 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chrM/snps.gatk.vcf), (RodBinding name=variant12 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chrM/indels.gatk.vcf), (RodBinding name=variant13 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr20/snps.gatk.vcf), (RodBinding name=variant14 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr20/indels.gatk.vcf), (RodBinding name=variant15 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chrY/snps.gatk.vcf), (RodBinding name=variant16 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chrY/indels.gatk.vcf), (RodBinding name=variant17 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr3/snps.gatk.vcf), (RodBinding name=variant18 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr3/indels.gatk.vcf), (RodBinding name=variant19 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr9/snps.gatk.vcf), (RodBinding name=variant20 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr9/indels.gatk.vcf), (RodBinding name=variant21 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr7/snps.gatk.vcf), (RodBinding name=variant22 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr7/indels.gatk.vcf), (RodBinding name=variant23 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr13/snps.gatk.vcf), (RodBinding name=variant24 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr13/indels.gatk.vcf), (RodBinding name=variant25 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr18/snps.gatk.vcf), (RodBinding name=variant26 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr18/indels.gatk.vcf), (RodBinding name=variant27 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr10/snps.gatk.vcf), (RodBinding name=variant28 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr10/indels.gatk.vcf), (RodBinding name=variant29 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr2/snps.gatk.vcf), (RodBinding name=variant30 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr2/indels.gatk.vcf), (RodBinding name=variant31 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr4/snps.gatk.vcf), (RodBinding name=variant32 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr4/indels.gatk.vcf), (RodBinding name=variant33 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr22/snps.gatk.vcf), (RodBinding name=variant34 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr22/indels.gatk.vcf), (RodBinding name=variant35 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr14/snps.gatk.vcf), (RodBinding name=variant36 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr14/indels.gatk.vcf), (RodBinding name=variant37 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr1/snps.gatk.vcf), (RodBinding name=variant38 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr1/indels.gatk.vcf), (RodBinding name=variant39 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr5/snps.gatk.vcf), (RodBinding name=variant40 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr5/indels.gatk.vcf), (RodBinding name=variant41 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr17/snps.gatk.vcf), (RodBinding name=variant42 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr17/indels.gatk.vcf), (RodBinding name=variant43 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chrX/snps.gatk.vcf), (RodBinding name=variant44 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chrX/indels.gatk.vcf), (RodBinding name=variant45 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr8/snps.gatk.vcf), (RodBinding name=variant46 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr8/indels.gatk.vcf), (RodBinding name=variant47 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr11/snps.gatk.vcf), (RodBinding name=variant48 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr11/indels.gatk.vcf), (RodBinding name=variant49 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr21/snps.gatk.vcf), (RodBinding name=variant50 source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/chr21/indels.gatk.vcf)] out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub genotypemergeoption=UNSORTED filteredrecordsmergetype=KEEP_IF_ANY_UNFILTERED multipleallelesmergetype=BY_TYPE rod_priority_list=null printComplexMerges=false filteredAreUncalled=false minimalVCF=false setKey=set assumeIdenticalSamples=false minimumN=1 suppressCommandLineHeader=false mergeInfoWithMaxAC=false filter_mismatching_base_and_quals=false"
##FILTER=<ID=LowQual,Description="Low quality">
##FORMAT=<ID=AD,Number=.,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=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=FS,Number=1,Type=Float,Description="Phred-scaled p-value using Fisher's exact test to detect strand bias">
##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=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=QD,Number=1,Type=Float,Description="Variant Confidence/Quality by Depth">
##INFO=<ID=RPA,Number=.,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=SB,Number=1,Type=Float,Description="Strand Bias">
##INFO=<ID=STR,Number=0,Type=Flag,Description="Variant is a short tandem repeat">
##INFO=<ID=set,Number=1,Type=String,Description="Source VCF for the merged record in CombineVariants">
##LeftAlignVariants="analysis_type=LeftAlignVariants input_file=[] read_buffer_size=null phone_home=STANDARD gatk_key=null read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/superpipe/reference/hg19.edited/hg19.edited.fasta nonDeterministicRandomSeed=false downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 defaultBaseQualities=-1 validation_strictness=SILENT remove_program_records=false keep_program_records=false unsafe=null num_threads=1 num_cpu_threads=null num_io_threads=null num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false logging_level=INFO log_to_file=null help=false variant=(RodBinding name=variant source=/superpipe/data/output/GPP10315_20120828021333//SuperPipe-1393048295953/variants/GPP10315_20120828021333_nucseek.noannotation.vcf) out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub filter_mismatching_base_and_quals=false"
##UnifiedGenotyper="analysis_type=UnifiedGenotyper input_file=[/superpipe/data/output/GPP10315_20120828021333/SuperPipe-1393048295953/stage/clean/re-calibrated/chr13/20120828_MISEQ6_GPP10315_Plex4_TGCCAG_L001_R1_001-S000001.fq.sorted.re-aligned.re-calibrated.merged.chr13.bam] read_buffer_size=null phone_home=STANDARD gatk_key=null read_filter=[ReassignMappingQualityRange] intervals=[/superpipe/reference/regions/bed/NucSEEKH1/Haloplex_v1.bed] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/superpipe/reference/hg19.edited/hg19.edited.fasta nonDeterministicRandomSeed=false downsampling_type=NONE downsample_to_fraction=null downsample_to_coverage=1000000 baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 defaultBaseQualities=-1 validation_strictness=SILENT remove_program_records=false keep_program_records=false unsafe=null num_threads=8 num_cpu_threads=null num_io_threads=null num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false logging_level=INFO log_to_file=null help=false genotype_likelihoods_model=SNP p_nonref_model=EXACT pcr_error_rate=1.0E-4 noSLOD=false annotateNDA=false min_base_quality_score=17 max_deletion_fraction=0.05 cap_max_alternate_alleles_for_indels=false min_indel_count_for_genotyping=5 min_indel_fraction_per_sample=0.25 indel_heterozygosity=1.25E-4 indelGapContinuationPenalty=10 indelGapOpenPenalty=45 indelHaplotypeSize=80 noBandedIndel=false indelDebug=false ignoreSNPAlleles=false allReadsSP=false ignoreLaneInfo=false reference_sample_calls=(RodBinding name= source=UNBOUND) reference_sample_name=null sample_ploidy=2 min_quality_score=1 max_quality_score=40 site_quality_prior=20 min_power_threshold_for_calling=0.95 min_reference_depth=100 exclude_filtered_reference_sites=false heterozygosity=0.001 genotyping_mode=DISCOVERY output_mode=EMIT_VARIANTS_ONLY standard_min_confidence_threshold_for_calling=30.0 standard_min_confidence_threshold_for_emitting=1.0 alleles=(RodBinding name= source=UNBOUND) max_alternate_alleles=3 dbsnp=(RodBinding name=dbsnp source=/superpipe/reference/dbsnp-137/dbsnp_137.hg19.vcf) comp=[] out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub debug_file=null metrics_file=null annotation=[] excludeAnnotation=[] filter_mismatching_base_and_quals=false mapping_quality_range=18 mapping_quality_min=10 mapping_quality_max=17"
##contig=<ID=chr1,length=249250621,assembly=hg19>
##contig=<ID=chr2,length=243199373,assembly=hg19>
##contig=<ID=chr3,length=198022430,assembly=hg19>
##contig=<ID=chr4,length=191154276,assembly=hg19>
##contig=<ID=chr5,length=180915260,assembly=hg19>
##contig=<ID=chr6,length=171115067,assembly=hg19>
##contig=<ID=chr7,length=159138663,assembly=hg19>
##contig=<ID=chr8,length=146364022,assembly=hg19>
##contig=<ID=chr9,length=141213431,assembly=hg19>
##contig=<ID=chr10,length=135534747,assembly=hg19>
##contig=<ID=chr11,length=135006516,assembly=hg19>
##contig=<ID=chr12,length=133851895,assembly=hg19>
##contig=<ID=chr13,length=115169878,assembly=hg19>
##contig=<ID=chr14,length=107349540,assembly=hg19>
##contig=<ID=chr15,length=102531392,assembly=hg19>
##contig=<ID=chr16,length=90354753,assembly=hg19>
##contig=<ID=chr17,length=81195210,assembly=hg19>
##contig=<ID=chr18,length=78077248,assembly=hg19>
##contig=<ID=chr19,length=59128983,assembly=hg19>
##contig=<ID=chr20,length=63025520,assembly=hg19>
##contig=<ID=chr21,length=48129895,assembly=hg19>
##contig=<ID=chr22,length=51304566,assembly=hg19>
##contig=<ID=chrX,length=155270560,assembly=hg19>
##contig=<ID=chrY,length=59373566,assembly=hg19>
##contig=<ID=chrM,length=16569,assembly=hg19>
##reference=file:///superpipe/reference/hg19.edited/hg19.edited.fasta
##SnpSiftVersion="SnpSift 3.4i (build 2014-01-16), by Pablo Cingolani"
##SnpSiftCmd="SnpSift int /superpipe/reference/regions/bed/NucSEEKH1/Haloplex_v1.bed -i /superpipe/data/output/GPP10315_20120828021333/SuperPipe-1393048295953/variants/GPP10315_20120828021333_nucseek.noannotation.leftalign.vcf "
##SnpEffVersion="3.4i (build 2014-01-16), by Pablo Cingolani"
##SnpEffCmd="SnpEff  GRCh37.71 -lof -hgvs -geneId -nextprot /superpipe/data/output/GPP10315_20120828021333/SuperPipe-1393048295953/variants/GPP10315_20120828021333_nucseek.noannotation.regions.vcf "
##INFO=<ID=EFF,Number=.,Type=String,Description="Predicted effects for this variant.Format: 'Effect ( Effect_Impact | Functional_Class | Codon_Change | Amino_Acid_Change| Amino_Acid_length | Gene_Name | Transcript_BioType | Gene_Coding | Transcript_ID | Exon_Rank  | Genotype_Number [ | ERRORS | WARNINGS ] )' ">
##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=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' ">
##SnpSiftCmd="SnpSift dbnsfp -a -f genename,Uniprot_acc,Uniprot_id,Uniprot_aapos,Interpro_domain,cds_strand,refcodon,codonpos,fold-degenerate,Ancestral_allele,Ensembl_geneid,Ensembl_transcriptid,aapos,SIFT_score,SIFT_score_converted,SIFT_pred,Polyphen2_HDIV_score,Polyphen2_HDIV_pred,Polyphen2_HVAR_score,Polyphen2_HVAR_pred,LRT_score,LRT_score_converted,LRT_pred,MutationTaster_score,MutationTaster_score_converted,MutationTaster_pred,MutationAssessor_score,MutationAssessor_score_converted,MutationAssessor_pred,FATHMM_score,FATHMM_score_converted,FATHMM_pred,GERP++_NR,GERP++_RS,phyloP,29way_pi,29way_logOdds,LRT_Omega,UniSNP_ids,1000Gp1_AC,1000Gp1_AF,1000Gp1_AFR_AC,1000Gp1_AFR_AF,1000Gp1_EUR_AC,1000Gp1_EUR_AF,1000Gp1_AMR_AC,1000Gp1_AMR_AF,1000Gp1_ASN_AC,1000Gp1_ASN_AF,ESP6500_AA_AF,ESP6500_EA_AF /superpipe/snpEff/data/dbNSFP2.1.txt /superpipe/data/output/GPP10315_20120828021333/SuperPipe-1393048295953/variants/GPP10315_20120828021333_nucseek.noannotation.regions.snpEff.vcf "
##INFO=<ID=dbNSFP_FATHMM_score_converted,Number=A,Type=Float,Description="Field 'FATHMM_score_converted' from dbNSFP">
##INFO=<ID=dbNSFP_GERP++_RS,Number=A,Type=Float,Description="Field 'GERP++_RS' from dbNSFP">
##INFO=<ID=dbNSFP_1000Gp1_ASN_AF,Number=A,Type=Float,Description="Field '1000Gp1_ASN_AF' from dbNSFP">
##INFO=<ID=dbNSFP_Ensembl_geneid,Number=A,Type=String,Description="Field 'Ensembl_geneid' from dbNSFP">
##INFO=<ID=dbNSFP_FATHMM_score,Number=A,Type=Float,Description="Field 'FATHMM_score' from dbNSFP">
##INFO=<ID=dbNSFP_1000Gp1_ASN_AC,Number=A,Type=Integer,Description="Field '1000Gp1_ASN_AC' from dbNSFP">
##INFO=<ID=dbNSFP_MutationTaster_pred,Number=A,Type=Character,Description="Field 'MutationTaster_pred' from dbNSFP">
##INFO=<ID=dbNSFP_29way_logOdds,Number=A,Type=Float,Description="Field '29way_logOdds' from dbNSFP">
##INFO=<ID=dbNSFP_FATHMM_pred,Number=A,Type=Character,Description="Field 'FATHMM_pred' from dbNSFP">
##INFO=<ID=dbNSFP_MutationTaster_score,Number=A,Type=Integer,Description="Field 'MutationTaster_score' from dbNSFP">
##INFO=<ID=dbNSFP_fold-degenerate,Number=A,Type=Integer,Description="Field 'fold-degenerate' from dbNSFP">
##INFO=<ID=dbNSFP_MutationAssessor_score,Number=A,Type=Float,Description="Field 'MutationAssessor_score' from dbNSFP">
##INFO=<ID=dbNSFP_1000Gp1_AMR_AC,Number=A,Type=Integer,Description="Field '1000Gp1_AMR_AC' from dbNSFP">
##INFO=<ID=dbNSFP_ESP6500_EA_AF,Number=A,Type=Float,Description="Field 'ESP6500_EA_AF' from dbNSFP">
##INFO=<ID=dbNSFP_LRT_pred,Number=A,Type=Character,Description="Field 'LRT_pred' from dbNSFP">
##INFO=<ID=dbNSFP_29way_pi,Number=A,Type=String,Description="Field '29way_pi' from dbNSFP">
##INFO=<ID=dbNSFP_LRT_Omega,Number=A,Type=Float,Description="Field 'LRT_Omega' from dbNSFP">
##INFO=<ID=dbNSFP_1000Gp1_AMR_AF,Number=A,Type=Float,Description="Field '1000Gp1_AMR_AF' from dbNSFP">
##INFO=<ID=dbNSFP_GERP++_NR,Number=A,Type=Float,Description="Field 'GERP++_NR' from dbNSFP">
##INFO=<ID=dbNSFP_Interpro_domain,Number=A,Type=String,Description="Field 'Interpro_domain' from dbNSFP">
##INFO=<ID=dbNSFP_MutationAssessor_pred,Number=A,Type=Character,Description="Field 'MutationAssessor_pred' from dbNSFP">
##INFO=<ID=dbNSFP_LRT_score,Number=A,Type=Float,Description="Field 'LRT_score' from dbNSFP">
##INFO=<ID=dbNSFP_cds_strand,Number=A,Type=Character,Description="Field 'cds_strand' from dbNSFP">
##INFO=<ID=dbNSFP_LRT_score_converted,Number=A,Type=Float,Description="Field 'LRT_score_converted' from dbNSFP">
##INFO=<ID=dbNSFP_phyloP,Number=A,Type=Float,Description="Field 'phyloP' from dbNSFP">
##INFO=<ID=dbNSFP_genename,Number=A,Type=String,Description="Field 'genename' from dbNSFP">
##INFO=<ID=dbNSFP_MutationTaster_score_converted,Number=A,Type=Float,Description="Field 'MutationTaster_score_converted' from dbNSFP">
##INFO=<ID=dbNSFP_SIFT_score_converted,Number=A,Type=Float,Description="Field 'SIFT_score_converted' from dbNSFP">
##INFO=<ID=dbNSFP_Uniprot_acc,Number=A,Type=String,Description="Field 'Uniprot_acc' from dbNSFP">
##INFO=<ID=dbNSFP_codonpos,Number=A,Type=Integer,Description="Field 'codonpos' from dbNSFP">
##INFO=<ID=dbNSFP_Polyphen2_HDIV_score,Number=A,Type=Float,Description="Field 'Polyphen2_HDIV_score' from dbNSFP">
##INFO=<ID=dbNSFP_UniSNP_ids,Number=A,Type=String,Description="Field 'UniSNP_ids' from dbNSFP">
##INFO=<ID=dbNSFP_SIFT_pred,Number=A,Type=Character,Description="Field 'SIFT_pred' from dbNSFP">
##INFO=<ID=dbNSFP_aapos,Number=A,Type=Integer,Description="Field 'aapos' from dbNSFP">
##INFO=<ID=dbNSFP_1000Gp1_AFR_AF,Number=A,Type=Float,Description="Field '1000Gp1_AFR_AF' from dbNSFP">
##INFO=<ID=dbNSFP_1000Gp1_AFR_AC,Number=A,Type=Integer,Description="Field '1000Gp1_AFR_AC' from dbNSFP">
##INFO=<ID=dbNSFP_refcodon,Number=A,Type=String,Description="Field 'refcodon' from dbNSFP">
##INFO=<ID=dbNSFP_Uniprot_aapos,Number=A,Type=Integer,Description="Field 'Uniprot_aapos' from dbNSFP">
##INFO=<ID=dbNSFP_1000Gp1_AC,Number=A,Type=Integer,Description="Field '1000Gp1_AC' from dbNSFP">
##INFO=<ID=dbNSFP_1000Gp1_AF,Number=A,Type=Float,Description="Field '1000Gp1_AF' from dbNSFP">
##INFO=<ID=dbNSFP_SIFT_score,Number=A,Type=Float,Description="Field 'SIFT_score' from dbNSFP">
##INFO=<ID=dbNSFP_Uniprot_id,Number=A,Type=String,Description="Field 'Uniprot_id' from dbNSFP">
##INFO=<ID=dbNSFP_Ensembl_transcriptid,Number=A,Type=String,Description="Field 'Ensembl_transcriptid' from dbNSFP">
##INFO=<ID=dbNSFP_ESP6500_AA_AF,Number=A,Type=Float,Description="Field 'ESP6500_AA_AF' from dbNSFP">
##INFO=<ID=dbNSFP_Polyphen2_HVAR_score,Number=A,Type=Float,Description="Field 'Polyphen2_HVAR_score' from dbNSFP">
##INFO=<ID=dbNSFP_Ancestral_allele,Number=A,Type=Character,Description="Field 'Ancestral_allele' from dbNSFP">
##INFO=<ID=dbNSFP_Polyphen2_HDIV_pred,Number=A,Type=Character,Description="Field 'Polyphen2_HDIV_pred' from dbNSFP">
##INFO=<ID=dbNSFP_1000Gp1_EUR_AF,Number=A,Type=Float,Description="Field '1000Gp1_EUR_AF' from dbNSFP">
##INFO=<ID=dbNSFP_Polyphen2_HVAR_pred,Number=A,Type=Character,Description="Field 'Polyphen2_HVAR_pred' from dbNSFP">
##INFO=<ID=dbNSFP_MutationAssessor_score_converted,Number=A,Type=Float,Description="Field 'MutationAssessor_score_converted' from dbNSFP">
##INFO=<ID=dbNSFP_1000Gp1_EUR_AC,Number=A,Type=Integer,Description="Field '1000Gp1_EUR_AC' from dbNSFP">
##SnpSiftCmd="SnpSift gwasCat /superpipe/snpEff/data/gwascatalog.txt /superpipe/data/output/GPP10315_20120828021333/SuperPipe-1393048295953/variants/GPP10315_20120828021333_nucseek.noannotation.regions.snpEff.dbnsfp.vcf "
##INFO=<ID=GWASCAT,Number=.,Type=String,Description="Trait related to this chromosomal position, according to GWAS catalog">
##SnpSiftCmd="SnpSift geneSets /superpipe/snpEff/data/msigdb.v4.0.symbols.gmt /superpipe/data/output/GPP10315_20120828021333/SuperPipe-1393048295953/variants/GPP10315_20120828021333_nucseek.noannotation.regions.snpEFF.dbnsfp.gwascat.vcf "
##INFO=<ID=MSigDb,Number=.,Type=String,Description="Gene set from MSigDB database (GSEA)">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	GPP10315
chr1	1342612	rs2275915	G	C	3922.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-0.339;DB;DP=372;Dels=0.00;FS=0.375;HaplotypeScore=3.9330;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=1.913;QD=10.54;ReadPosRankSum=-0.019;SB=-3.085e+03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000242485|processed_transcript|CODING|ENST00000477686|1|1),EXON(MODIFIER|||||ENSG00000242485|retained_intron|CODING|ENST00000487659|1|1),UPSTREAM(MODIFIER||1480|||ENSG00000264293|misc_RNA|NON_CODING|ENST00000582431||1),UPSTREAM(MODIFIER||234||66|ENSG00000242485|protein_coding|CODING|ENST00000492508||1),UPSTREAM(MODIFIER||925|||ENSG00000242485|processed_transcript|CODING|ENST00000493287||1),UTR_5_PRIME(MODIFIER||||149|ENSG00000242485|protein_coding|CODING|ENST00000344843|1|1),UTR_5_PRIME(MODIFIER||||155|ENSG00000242485|protein_coding|CODING|ENST00000482352|1|1)	GT:AD:DP:GQ:PL	0/1:172,200:372:99:3922,0,3333
chr1	6704635	rs200458	A	G	24194.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=990;Dels=0.00;FS=0.000;HaplotypeScore=15.0796;MLEAC=2;MLEAF=1.00;MQ=43.99;MQ0=0;QD=24.44;SB=-1.656e+04;set=variant37;EFF=DOWNSTREAM(MODIFIER||1225||323|ENSG00000007923|protein_coding|CODING|ENST00000426784||1),DOWNSTREAM(MODIFIER||1301|||ENSG00000007923|processed_transcript|CODING|ENST00000473993||1),EXON(MODIFIER|||||ENSG00000007923|processed_transcript|CODING|ENST00000465508|2|1),EXON(MODIFIER|||||ENSG00000007923|processed_transcript|CODING|ENST00000472414|2|1),INTRON(MODIFIER||||318|ENSG00000007923|protein_coding|CODING|ENST00000349363|7|1),INTRON(MODIFIER||||332|ENSG00000007923|protein_coding|CODING|ENST00000451196|7|1),SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|p.Gly270Gly/c.810T>C|469|ENSG00000007923|protein_coding|CODING|ENST00000377573|9|1),SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|p.Gly322Gly/c.966T>C|521|ENSG00000007923|protein_coding|CODING|ENST00000542246|10|1),SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|p.Gly360Gly/c.1080T>C|507|ENSG00000007923|protein_coding|CODING|ENST00000294401|10|1),SYNONYMOUS_CODING(LOW|SILENT|ggT/ggC|p.Gly360Gly/c.1080T>C|559|ENSG00000007923|protein_coding|CODING|ENST00000377577|10|1)	GT:AD:DP:GQ:PL	1/1:0,988:990:99:24194,1719,0
chr1	9305445	rs34603401	A	C	4185.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=12.444;DB;DP=281;Dels=0.00;FS=1.525;HaplotypeScore=3.8603;MLEAC=1;MLEAF=0.500;MQ=43.94;MQ0=0;MQRankSum=1.283;QD=14.89;ReadPosRankSum=1.311;SB=-5.600e+02;set=variant37;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gCc|p.Asp151Ala/c.452A>C|791|ENSG00000049239|protein_coding|CODING|ENST00000377403|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gCc|p.Asp162Ala/c.485A>C|802|ENSG00000049239|protein_coding|CODING|ENST00000602477|2|1);dbNSFP_FATHMM_score_converted=0.5737766156144939;dbNSFP_GERP++_RS=4.17;dbNSFP_1000Gp1_ASN_AF=0.0017482517482517483;dbNSFP_Ensembl_geneid=ENSG00000049239;dbNSFP_FATHMM_score=-4.72;dbNSFP_1000Gp1_ASN_AC=1;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=11.0084;dbNSFP_FATHMM_pred=D;dbNSFP_MutationTaster_score=0.000211426;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=1.535;dbNSFP_1000Gp1_AMR_AC=44;dbNSFP_ESP6500_EA_AF=0.151977;dbNSFP_LRT_pred=D;dbNSFP_29way_pi=0.9227:0.0:0.0773:0.0;dbNSFP_LRT_Omega=0.168797;dbNSFP_1000Gp1_AMR_AF=0.12154696132596685;dbNSFP_GERP++_NR=5.31;dbNSFP_Interpro_domain=NAD(P)-binding_domain_(1)|Glucose-6-phosphate_dehydrogenase|_NAD-binding_(1)|;dbNSFP_MutationAssessor_pred=L;dbNSFP_LRT_score=0.000066;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.999967;dbNSFP_phyloP=2.134000;dbNSFP_genename=H6PD;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.81;dbNSFP_Uniprot_acc=O95479;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=0.698;dbNSFP_UniSNP_ids=rs34603401;dbNSFP_SIFT_pred=T;dbNSFP_aapos=151;dbNSFP_1000Gp1_AFR_AF=0.006097560975609756;dbNSFP_1000Gp1_AFR_AC=3;dbNSFP_refcodon=GAC;dbNSFP_Uniprot_aapos=151;dbNSFP_1000Gp1_AC=167;dbNSFP_1000Gp1_AF=0.07646520146520147;dbNSFP_SIFT_score=0.190000;dbNSFP_Uniprot_id=G6PE_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000377403;dbNSFP_ESP6500_AA_AF=0.027236;dbNSFP_Polyphen2_HVAR_score=0.338;dbNSFP_Ancestral_allele=A;dbNSFP_Polyphen2_HDIV_pred=P;dbNSFP_1000Gp1_EUR_AF=0.15699208443271767;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=0.6145833333333334;dbNSFP_1000Gp1_EUR_AC=119	GT:AD:DP:GQ:PL	0/1:148,133:281:99:4185,0,4398
chr1	9324213	rs17368528	C	T	14175.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=15.896;DB;DP=1408;Dels=0.00;FS=1.741;HaplotypeScore=20.4935;MLEAC=1;MLEAF=0.500;MQ=43.99;MQ0=0;MQRankSum=-1.719;QD=10.07;ReadPosRankSum=-0.341;SB=-1.235e+04;set=variant37;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|p.Pro554Leu/c.1661C>T|791|ENSG00000049239|protein_coding|CODING|ENST00000377403|5|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cTg|p.Pro565Leu/c.1694C>T|802|ENSG00000049239|protein_coding|CODING|ENST00000602477|5|1),UPSTREAM(MODIFIER||1376|||ENSG00000049239|processed_transcript|CODING|ENST00000495451||1);dbNSFP_FATHMM_score_converted=0.57527082555099;dbNSFP_GERP++_RS=4.76;dbNSFP_1000Gp1_ASN_AF=0.06643356643356643;dbNSFP_Ensembl_geneid=ENSG00000049239;dbNSFP_FATHMM_score=-4.76;dbNSFP_1000Gp1_ASN_AC=38;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=13.1468;dbNSFP_FATHMM_pred=D;dbNSFP_MutationTaster_score=0.000397093;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=2.075;dbNSFP_1000Gp1_AMR_AC=45;dbNSFP_ESP6500_EA_AF=0.122615;dbNSFP_LRT_pred=D;dbNSFP_29way_pi=0.0:0.9238:0.0:0.0762;dbNSFP_LRT_Omega=0.275476;dbNSFP_1000Gp1_AMR_AF=0.12430939226519337;dbNSFP_GERP++_NR=5.67;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=M;dbNSFP_LRT_score=0.000664;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.999668;dbNSFP_phyloP=2.677000;dbNSFP_genename=H6PD;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.98;dbNSFP_Uniprot_acc=O95479;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=0.913;dbNSFP_UniSNP_ids=rs17368528|rs52818643|rs17368528;dbNSFP_SIFT_pred=D;dbNSFP_aapos=554;dbNSFP_1000Gp1_AFR_AF=0.012195121951219513;dbNSFP_1000Gp1_AFR_AC=6;dbNSFP_refcodon=CCG;dbNSFP_Uniprot_aapos=554;dbNSFP_1000Gp1_AC=185;dbNSFP_1000Gp1_AF=0.08470695970695971;dbNSFP_SIFT_score=0.020000;dbNSFP_Uniprot_id=G6PE_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000377403;dbNSFP_ESP6500_AA_AF=0.022727;dbNSFP_Polyphen2_HVAR_score=0.208;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=P;dbNSFP_1000Gp1_EUR_AF=0.1266490765171504;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=0.6614583333333334;dbNSFP_1000Gp1_EUR_AC=96	GT:AD:DP:GQ:PL	0/1:693,715:1408:99:14175,0,13694
chr1	9324571	rs9434742	T	C	11683.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-3.958;DB;DP=1175;Dels=0.00;FS=1.133;HaplotypeScore=15.5232;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.306;QD=9.94;ReadPosRankSum=-0.175;SB=-9.423e+03;set=variant37;EFF=SYNONYMOUS_CODING(LOW|SILENT|taT/taC|p.Tyr673Tyr/c.2019T>C|791|ENSG00000049239|protein_coding|CODING|ENST00000377403|5|1),SYNONYMOUS_CODING(LOW|SILENT|taT/taC|p.Tyr684Tyr/c.2052T>C|802|ENSG00000049239|protein_coding|CODING|ENST00000602477|5|1),UPSTREAM(MODIFIER||1018|||ENSG00000049239|processed_transcript|CODING|ENST00000495451||1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:587,588:1175:99:11683,0,11782
chr1	9324670	rs9434743	A	G	3778.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-11.633;DB;DP=271;Dels=0.00;FS=4.235;HaplotypeScore=13.0969;MLEAC=1;MLEAF=0.500;MQ=43.06;MQ0=0;MQRankSum=0.978;QD=13.94;ReadPosRankSum=-1.173;SB=-1.690e+02;set=variant37;EFF=SYNONYMOUS_CODING(LOW|SILENT|tcA/tcG|p.Ser706Ser/c.2118A>G|791|ENSG00000049239|protein_coding|CODING|ENST00000377403|5|1),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcG|p.Ser717Ser/c.2151A>G|802|ENSG00000049239|protein_coding|CODING|ENST00000602477|5|1),UPSTREAM(MODIFIER||919|||ENSG00000049239|processed_transcript|CODING|ENST00000495451||1)	GT:AD:DP:GQ:PL	0/1:130,134:271:99:3778,0,4386
chr1	10421878	rs12125492	A	G	12066.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-12.177;DB;DP=798;Dels=0.00;FS=7.593;HaplotypeScore=19.2259;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-1.498;QD=15.12;ReadPosRankSum=0.140;SB=-6.410e+03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000054523|processed_transcript|CODING|ENST00000465635|7|1),EXON(MODIFIER|||||ENSG00000054523|retained_intron|CODING|ENST00000483340|6|1),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|p.Pro1387Pro/c.4161A>G|1770|ENSG00000054523|protein_coding|CODING|ENST00000263934|38|1),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|p.Pro1433Pro/c.4299A>G|1816|ENSG00000054523|protein_coding|CODING|ENST00000377086|40|1),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|p.Pro1433Pro/c.4299A>G|1823|ENSG00000054523|protein_coding|CODING|ENST00000377081|39|1),UPSTREAM(MODIFIER||3346|||ENSG00000054523|retained_intron|CODING|ENST00000470616||1)	GT:AD:DP:GQ:PL	0/1:383,415:798:99:12066,0,12068
chr1	12065841	rs1042837	C	T	17054.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-8.698;DB;DP=1685;Dels=0.00;FS=7.643;HaplotypeScore=17.4230;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=1.682;QD=10.12;ReadPosRankSum=1.891;SB=-1.373e+04;set=variant37;EFF=NEXT_PROT[topological_domain:Cytoplasmic](LOW||||757|ENSG00000116688|protein_coding|CODING|ENST00000444836|10|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||757|ENSG00000116688|protein_coding|CODING|ENST00000444836|11|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||757|ENSG00000116688|protein_coding|CODING|ENST00000444836|12|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||757|ENSG00000116688|protein_coding|CODING|ENST00000444836|13|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||757|ENSG00000116688|protein_coding|CODING|ENST00000444836|14|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||757|ENSG00000116688|protein_coding|CODING|ENST00000444836|15|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||757|ENSG00000116688|protein_coding|CODING|ENST00000444836|2|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||757|ENSG00000116688|protein_coding|CODING|ENST00000444836|3|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||757|ENSG00000116688|protein_coding|CODING|ENST00000444836|4|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||757|ENSG00000116688|protein_coding|CODING|ENST00000444836|5|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||757|ENSG00000116688|protein_coding|CODING|ENST00000444836|6|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||757|ENSG00000116688|protein_coding|CODING|ENST00000444836|7|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||757|ENSG00000116688|protein_coding|CODING|ENST00000444836|8|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||757|ENSG00000116688|protein_coding|CODING|ENST00000444836|9|1),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|p.Ser523Ser/c.1569C>T|757|ENSG00000116688|protein_coding|CODING|ENST00000235329|15|1),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|p.Ser523Ser/c.1569C>T|757|ENSG00000116688|protein_coding|CODING|ENST00000444836|14|1)	GT:AD:DP:GQ:PL	0/1:851,832:1684:99:17054,0,16521
chr1	15904318	rs11544523	C	T	5599.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=9.204;DB;DP=523;Dels=0.00;FS=10.215;HaplotypeScore=8.6350;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.633;QD=10.71;ReadPosRankSum=2.797;SB=-2.109e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||1731||655|ENSG00000116138|protein_coding|CODING|ENST00000375849||1),INTRON(MODIFIER|||||ENSG00000116138|processed_transcript|CODING|ENST00000483270|13|1),SYNONYMOUS_CODING(LOW|SILENT|tcG/tcA|p.Ser254Ser/c.762G>A|352|ENSG00000116771|protein_coding|CODING|ENST00000375826|5|1)	GT:AD:DP:GQ:PL	0/1:295,226:523:99:5599,0,6565
chr1	15905501	rs41270261	G	A	8985.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=10.329;DB;DP=819;Dels=0.00;FS=0.516;HaplotypeScore=7.5179;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.908;QD=10.97;ReadPosRankSum=0.804;SB=-6.174e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||2914||655|ENSG00000116138|protein_coding|CODING|ENST00000375849||1),INTRON(MODIFIER|||||ENSG00000116138|processed_transcript|CODING|ENST00000483270|13|1),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|p.Thr191Thr/c.573C>T|352|ENSG00000116771|protein_coding|CODING|ENST00000375826|4|1)	GT:AD:DP:GQ:PL	0/1:401,418:819:99:8985,0,8418
chr1	15909744	rs11580170	C	T	5333.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=13.342;DB;DP=484;Dels=0.00;FS=2.491;HaplotypeScore=7.9081;MLEAC=1;MLEAF=0.500;MQ=43.99;MQ0=0;MQRankSum=-0.255;QD=11.02;ReadPosRankSum=-0.753;SB=-2.333e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||2887|||ENSG00000237301|processed_transcript|NON_CODING|ENST00000428945||1),INTRON(MODIFIER|||||ENSG00000116138|processed_transcript|CODING|ENST00000483270|13|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGa/cAa|p.Arg140Gln/c.419G>A|352|ENSG00000116771|protein_coding|CODING|ENST00000375826|2|1);dbNSFP_FATHMM_score_converted=0.46432573776615615;dbNSFP_GERP++_RS=1.23;dbNSFP_1000Gp1_ASN_AF=0.06468531468531469;dbNSFP_Ensembl_geneid=ENSG00000116771;dbNSFP_FATHMM_score=-1.79;dbNSFP_1000Gp1_ASN_AC=37;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=8.4855;dbNSFP_FATHMM_pred=D;dbNSFP_MutationTaster_score=0.999969;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=0.575;dbNSFP_1000Gp1_AMR_AC=99;dbNSFP_ESP6500_EA_AF=0.247674;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.3127:0.5585:0.0:0.1288;dbNSFP_LRT_Omega=0.437097;dbNSFP_1000Gp1_AMR_AF=0.27348066298342544;dbNSFP_GERP++_NR=5.17;dbNSFP_Interpro_domain=Ureohydrolase_domain_(1)|;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.070839;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.9645805;dbNSFP_phyloP=0.280000;dbNSFP_genename=AGMAT;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.38;dbNSFP_Uniprot_acc=Q9BSE5;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=0.016;dbNSFP_UniSNP_ids=rs11580170|rs59956736|rs11580170;dbNSFP_SIFT_pred=T;dbNSFP_aapos=140;dbNSFP_1000Gp1_AFR_AF=0.5284552845528455;dbNSFP_1000Gp1_AFR_AC=260;dbNSFP_refcodon=CGA;dbNSFP_Uniprot_aapos=140;dbNSFP_1000Gp1_AC=575;dbNSFP_1000Gp1_AF=0.2632783882783883;dbNSFP_SIFT_score=0.620000;dbNSFP_Uniprot_id=SPEB_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000375826;dbNSFP_ESP6500_AA_AF=0.524512;dbNSFP_Polyphen2_HVAR_score=0.042;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.23614775725593667;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=0.53125;dbNSFP_1000Gp1_EUR_AC=179	GT:AD:DP:GQ:PL	0/1:265,219:484:99:5333,0,6049
chr1	15909850	rs6429757	C	G	7781.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-17.872;DB;DP=581;Dels=0.00;FS=6.856;HaplotypeScore=7.3106;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.273;QD=13.39;ReadPosRankSum=-5.352;SB=-3.849e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||2781|||ENSG00000237301|processed_transcript|NON_CODING|ENST00000428945||1),INTRON(MODIFIER|||||ENSG00000116138|processed_transcript|CODING|ENST00000483270|13|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Cgg|p.Gly105Arg/c.313G>C|352|ENSG00000116771|protein_coding|CODING|ENST00000375826|2|1);dbNSFP_FATHMM_score_converted=0.4684348150915204;dbNSFP_GERP++_RS=-1.41;dbNSFP_1000Gp1_ASN_AF=0.6013986013986014;dbNSFP_Ensembl_geneid=ENSG00000116771;dbNSFP_FATHMM_score=-1.9;dbNSFP_1000Gp1_ASN_AC=344;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=3.7841;dbNSFP_FATHMM_pred=D;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=-1.535;dbNSFP_1000Gp1_AMR_AC=193;dbNSFP_ESP6500_EA_AF=0.552907;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.0764:0.1895:0.3075:0.4267;dbNSFP_LRT_Omega=0.051023;dbNSFP_1000Gp1_AMR_AF=0.5331491712707183;dbNSFP_GERP++_NR=5.13;dbNSFP_Interpro_domain=Ureohydrolase_domain_(1)|;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.000001;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.9999995;dbNSFP_phyloP=-0.321000;dbNSFP_genename=AGMAT;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.0;dbNSFP_Uniprot_acc=Q9BSE5;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.0;dbNSFP_UniSNP_ids=rs6429757|rs17856129|rs56615894|rs6429757;dbNSFP_SIFT_pred=T;dbNSFP_aapos=105;dbNSFP_1000Gp1_AFR_AF=0.8699186991869918;dbNSFP_1000Gp1_AFR_AC=428;dbNSFP_refcodon=GGG;dbNSFP_Uniprot_aapos=105;dbNSFP_1000Gp1_AC=1383;dbNSFP_1000Gp1_AF=0.6332417582417582;dbNSFP_SIFT_score=1.000000;dbNSFP_Uniprot_id=SPEB_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000375826;dbNSFP_ESP6500_AA_AF=0.850885;dbNSFP_Polyphen2_HVAR_score=0.001;dbNSFP_Ancestral_allele=G;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.5514511873350924;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=0.3480902777777778;dbNSFP_1000Gp1_EUR_AC=418	GT:AD:DP:GQ:PL	0/1:250,331:581:99:7781,0,6400
chr1	15911493	rs6687474	A	G	9.52	LowQual	AC=1;AF=0.500;AN=2;BaseQRankSum=1.026;DB;DP=4;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.000;QD=2.38;ReadPosRankSum=1.026;SB=-3.300e+01;set=FilteredInAll;EFF=DOWNSTREAM(MODIFIER||1138|||ENSG00000237301|processed_transcript|NON_CODING|ENST00000428945||1),INTRON(MODIFIER|||||ENSG00000116138|processed_transcript|CODING|ENST00000483270|13|1),START_GAINED(LOW||||352|ENSG00000116771|protein_coding|CODING|ENST00000375826|1|1)	GT:AD:DP:GQ:PL	0/1:2,2:4:39:39,0,39
chr1	16342237	rs1739840	A	G	6472.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-9.935;DB;DP=622;Dels=0.00;FS=0.286;HaplotypeScore=5.3215;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.657;QD=10.41;ReadPosRankSum=-0.795;SB=-5.059e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||1594||68|ENSG00000173641|protein_coding|CODING|ENST00000545268||1),EXON(MODIFIER|||||ENSG00000173641|retained_intron|CODING|ENST00000442459|2|1),SYNONYMOUS_CODING(LOW|SILENT|acT/acC|p.Thr112Thr/c.336T>C|165|ENSG00000173641|protein_coding|CODING|ENST00000411503|3|1),SYNONYMOUS_CODING(LOW|SILENT|acT/acC|p.Thr117Thr/c.351T>C|170|ENSG00000173641|protein_coding|CODING|ENST00000311890|3|1),SYNONYMOUS_CODING(LOW|SILENT|acT/acC|p.Thr121Thr/c.363T>C|174|ENSG00000173641|protein_coding|CODING|ENST00000406363|3|1),SYNONYMOUS_CODING(LOW|SILENT|acT/acC|p.Thr122Thr/c.366T>C|175|ENSG00000173641|protein_coding|CODING|ENST00000487046|3|1),SYNONYMOUS_CODING(LOW|SILENT|acT/acC|p.Thr192Thr/c.576T>C|245|ENSG00000173641|protein_coding|CODING|ENST00000375718|4|1),SYNONYMOUS_CODING(LOW|SILENT|acT/acC|p.Thr71Thr/c.213T>C|124|ENSG00000173641|protein_coding|CODING|ENST00000463576|3|1),UPSTREAM(MODIFIER||3133|||ENSG00000186510|processed_transcript|CODING|ENST00000464764||1)	GT:AD:DP:GQ:PL	0/1:302,320:622:99:6472,0,6050
chr1	16344360	rs732286	A	G	7692.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=8.105;DB;DP=663;Dels=0.00;FS=1.692;HaplotypeScore=1.7900;MLEAC=1;MLEAF=0.500;MQ=41.64;MQ0=0;MQRankSum=-0.408;QD=11.60;ReadPosRankSum=-0.702;SB=-3.626e+03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000173641|retained_intron|CODING|ENST00000442459|1|1),INTRON(MODIFIER||||245|ENSG00000173641|protein_coding|CODING|ENST00000375718|1|1),NEXT_PROT[region_of_interest:Required_for_localization_to_SC35_splicing_speckles](LOW||||170|ENSG00000173641|protein_coding|CODING|ENST00000311890|1|1),NEXT_PROT[region_of_interest:Required_for_localization_to_SC35_splicing_speckles](LOW||||170|ENSG00000173641|protein_coding|CODING|ENST00000311890|2|1),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|p.Ala33Ala/c.99T>C|165|ENSG00000173641|protein_coding|CODING|ENST00000411503|1|1),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|p.Ala33Ala/c.99T>C|170|ENSG00000173641|protein_coding|CODING|ENST00000311890|1|1),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|p.Ala33Ala/c.99T>C|174|ENSG00000173641|protein_coding|CODING|ENST00000406363|1|1),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|p.Ala33Ala/c.99T>C|175|ENSG00000173641|protein_coding|CODING|ENST00000487046|1|1),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|p.Ala33Ala/c.99T>C|68|ENSG00000173641|protein_coding|CODING|ENST00000545268|1|1),UPSTREAM(MODIFIER||1010|||ENSG00000186510|processed_transcript|CODING|ENST00000464764||1),UPSTREAM(MODIFIER||3165|||ENSG00000186510|processed_transcript|CODING|ENST00000477360||1),UPSTREAM(MODIFIER||4006||686|ENSG00000186510|protein_coding|CODING|ENST00000375692||1),UPSTREAM(MODIFIER||4048|||ENSG00000186510|processed_transcript|CODING|ENST00000495784||1),UPSTREAM(MODIFIER||40||124|ENSG00000173641|protein_coding|CODING|ENST00000463576||1),UPSTREAM(MODIFIER||4126||686|ENSG00000186510|protein_coding|CODING|ENST00000420078||1),UPSTREAM(MODIFIER||4149||644|ENSG00000186510|protein_coding|CODING|ENST00000439316||1),UPSTREAM(MODIFIER||4187||687|ENSG00000186510|protein_coding|CODING|ENST00000331433||1)	GT:AD:DP:GQ:PL	0/1:348,315:663:99:7692,0,8305
chr1	16344402	rs945416	G	A	13451.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=7.091;DB;DP=1305;Dels=0.00;FS=2.120;HaplotypeScore=13.3040;MLEAC=1;MLEAF=0.500;MQ=40.74;MQ0=0;MQRankSum=-8.623;QD=10.31;ReadPosRankSum=-0.440;SB=-9.434e+03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000173641|retained_intron|CODING|ENST00000442459|1|1),INTRON(MODIFIER||||245|ENSG00000173641|protein_coding|CODING|ENST00000375718|1|1),NEXT_PROT[compositionally_biased_region:Poly-Ser](LOW||||170|ENSG00000173641|protein_coding|CODING|ENST00000311890|1|1),NEXT_PROT[compositionally_biased_region:Poly-Ser](LOW||||175|ENSG00000173641|protein_coding|CODING|ENST00000487046|1|1),NEXT_PROT[region_of_interest:Required_for_localization_to_SC35_splicing_speckles](LOW||||170|ENSG00000173641|protein_coding|CODING|ENST00000311890|1|1),NEXT_PROT[region_of_interest:Required_for_localization_to_SC35_splicing_speckles](LOW||||170|ENSG00000173641|protein_coding|CODING|ENST00000311890|2|1),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|p.Ser19Ser/c.57C>T|165|ENSG00000173641|protein_coding|CODING|ENST00000411503|1|1),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|p.Ser19Ser/c.57C>T|170|ENSG00000173641|protein_coding|CODING|ENST00000311890|1|1),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|p.Ser19Ser/c.57C>T|174|ENSG00000173641|protein_coding|CODING|ENST00000406363|1|1),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|p.Ser19Ser/c.57C>T|175|ENSG00000173641|protein_coding|CODING|ENST00000487046|1|1),SYNONYMOUS_CODING(LOW|SILENT|tcC/tcT|p.Ser19Ser/c.57C>T|68|ENSG00000173641|protein_coding|CODING|ENST00000545268|1|1),UPSTREAM(MODIFIER||3123|||ENSG00000186510|processed_transcript|CODING|ENST00000477360||1),UPSTREAM(MODIFIER||3964||686|ENSG00000186510|protein_coding|CODING|ENST00000375692||1),UPSTREAM(MODIFIER||4006|||ENSG00000186510|processed_transcript|CODING|ENST00000495784||1),UPSTREAM(MODIFIER||4084||686|ENSG00000186510|protein_coding|CODING|ENST00000420078||1),UPSTREAM(MODIFIER||4107||644|ENSG00000186510|protein_coding|CODING|ENST00000439316||1),UPSTREAM(MODIFIER||4145||687|ENSG00000186510|protein_coding|CODING|ENST00000331433||1),UPSTREAM(MODIFIER||82||124|ENSG00000173641|protein_coding|CODING|ENST00000463576||1),UPSTREAM(MODIFIER||968|||ENSG00000186510|processed_transcript|CODING|ENST00000464764||1)	GT:AD:DP:GQ:PL	0/1:683,622:1305:99:13451,0,15088
chr1	16344494	rs1572381	G	A	9964.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=7.889;DB;DP=679;Dels=0.00;FS=214.209;HaplotypeScore=23.6836;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.233;QD=14.67;ReadPosRankSum=3.517;SB=-6.519e-03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000173641|retained_intron|CODING|ENST00000442459|1|1),INTRON(MODIFIER||||245|ENSG00000173641|protein_coding|CODING|ENST00000375718|1|1),UPSTREAM(MODIFIER||174||124|ENSG00000173641|protein_coding|CODING|ENST00000463576||1),UPSTREAM(MODIFIER||3031|||ENSG00000186510|processed_transcript|CODING|ENST00000477360||1),UPSTREAM(MODIFIER||3872||686|ENSG00000186510|protein_coding|CODING|ENST00000375692||1),UPSTREAM(MODIFIER||3914|||ENSG00000186510|processed_transcript|CODING|ENST00000495784||1),UPSTREAM(MODIFIER||3992||686|ENSG00000186510|protein_coding|CODING|ENST00000420078||1),UPSTREAM(MODIFIER||4015||644|ENSG00000186510|protein_coding|CODING|ENST00000439316||1),UPSTREAM(MODIFIER||4053||687|ENSG00000186510|protein_coding|CODING|ENST00000331433||1),UPSTREAM(MODIFIER||876|||ENSG00000186510|processed_transcript|CODING|ENST00000464764||1),UTR_5_PRIME(MODIFIER||||165|ENSG00000173641|protein_coding|CODING|ENST00000411503|1|1),UTR_5_PRIME(MODIFIER||||170|ENSG00000173641|protein_coding|CODING|ENST00000311890|1|1),UTR_5_PRIME(MODIFIER||||174|ENSG00000173641|protein_coding|CODING|ENST00000406363|1|1),UTR_5_PRIME(MODIFIER||||175|ENSG00000173641|protein_coding|CODING|ENST00000487046|1|1),UTR_5_PRIME(MODIFIER||||68|ENSG00000173641|protein_coding|CODING|ENST00000545268|1|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=3.39;dbNSFP_1000Gp1_ASN_AF=0.7534965034965035;dbNSFP_Ensembl_geneid=ENSG00000173641;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=431;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=7.4046;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=3.80102e-07;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=175;dbNSFP_ESP6500_EA_AF=0.584756;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.0936:0.0:0.7399:0.1664;dbNSFP_LRT_Omega=0.690453;dbNSFP_1000Gp1_AMR_AF=0.48342541436464087;dbNSFP_GERP++_NR=4.33;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=0.509772;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.745114;dbNSFP_phyloP=2.245000;dbNSFP_genename=HSPB7;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.75;dbNSFP_Uniprot_acc=Q5T5Q1|Q5T5Q2;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.072|0.072;dbNSFP_UniSNP_ids=rs1572381|rs3738639|rs12726433|rs58654417;dbNSFP_SIFT_pred=T;dbNSFP_aapos=77;dbNSFP_1000Gp1_AFR_AF=0.7052845528455285;dbNSFP_1000Gp1_AFR_AC=347;dbNSFP_refcodon=CTC;dbNSFP_Uniprot_aapos=15|77;dbNSFP_1000Gp1_AC=1395;dbNSFP_1000Gp1_AF=0.6387362637362637;dbNSFP_SIFT_score=0.250000;dbNSFP_Uniprot_id=.|.;dbNSFP_Ensembl_transcriptid=ENST00000375714;dbNSFP_ESP6500_AA_AF=0.680073;dbNSFP_Polyphen2_HVAR_score=0.023|0.023;dbNSFP_Ancestral_allele=G;dbNSFP_Polyphen2_HDIV_pred=B|B;dbNSFP_1000Gp1_EUR_AF=0.58311345646438;dbNSFP_Polyphen2_HVAR_pred=B|B;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=442	GT:AD:DP:GQ:PL	0/1:384,295:679:99:9964,0,10015
chr1	17380497	rs2746462	G	T	16216.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=495;Dels=0.00;FS=0.000;HaplotypeScore=9.9440;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=32.76;SB=-5.750e+03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000117118|processed_transcript|CODING|ENST00000466613|1|1),EXON(MODIFIER|||||ENSG00000117118|processed_transcript|CODING|ENST00000485515|1|1),NEXT_PROT[transit_peptide:Mitochondrion](LOW||||280|ENSG00000117118|protein_coding|CODING|ENST00000375499|1|1),NEXT_PROT[transit_peptide:Mitochondrion](LOW||||280|ENSG00000117118|protein_coding|CODING|ENST00000375499|2|1),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcA|p.Ala6Ala/c.18C>A|280|ENSG00000117118|protein_coding|CODING|ENST00000375499|1|1),UPSTREAM(MODIFIER||1514|||ENSG00000117118|processed_transcript|CODING|ENST00000463045||1)	GT:AD:DP:GQ:PL	1/1:0,494:495:99:16216,1251,0
chr1	19201956	rs2230708	A	G	5634.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=139;Dels=0.00;FS=0.000;HaplotypeScore=1.6643;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=40.53;SB=-6.519e-03;set=variant37;EFF=NEXT_PROT[helix](LOW||||512|ENSG00000159423|protein_coding|CODING|ENST00000538839|12|1),NEXT_PROT[helix](LOW||||563|ENSG00000159423|protein_coding|CODING|ENST00000290597|13|1),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|p.Asp400Asp/c.1200T>C|503|ENSG00000159423|protein_coding|CODING|ENST00000538309|13|1),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|p.Asp409Asp/c.1227T>C|512|ENSG00000159423|protein_coding|CODING|ENST00000538839|12|1),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|p.Asp460Asp/c.1380T>C|563|ENSG00000159423|protein_coding|CODING|ENST00000290597|13|1),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|p.Asp460Asp/c.1380T>C|563|ENSG00000159423|protein_coding|CODING|ENST00000375341|13|1),UTR_3_PRIME(MODIFIER|||||ENSG00000255275|nonsense_mediated_decay|NON_CODING|ENST00000494072|21|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	1/1:0,139:139:99:5634,418,0
chr1	19202917	rs7550938	T	C	23428.01	PASS	AC=2;AF=1.00;AN=2;BaseQRankSum=0.748;DB;DP=756;Dels=0.00;FS=0.000;HaplotypeScore=20.4493;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;MQRankSum=-1.479;QD=30.99;ReadPosRankSum=1.139;SB=-3.521e+03;set=variant37;EFF=INTRON(MODIFIER||||512|ENSG00000159423|protein_coding|CODING|ENST00000538839|11|1),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcG|p.Ser350Ser/c.1050A>G|503|ENSG00000159423|protein_coding|CODING|ENST00000538309|12|1),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcG|p.Ser410Ser/c.1230A>G|563|ENSG00000159423|protein_coding|CODING|ENST00000290597|12|1),SYNONYMOUS_CODING(LOW|SILENT|tcA/tcG|p.Ser410Ser/c.1230A>G|563|ENSG00000159423|protein_coding|CODING|ENST00000375341|12|1),UTR_3_PRIME(MODIFIER|||||ENSG00000255275|nonsense_mediated_decay|NON_CODING|ENST00000494072|20|1)	GT:AD:DP:GQ:PL	1/1:1,752:756:99:23428,1651,0
chr1	19202926	rs2230706	T	C	22891.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=756;Dels=0.00;FS=0.000;HaplotypeScore=18.8136;MLEAC=2;MLEAF=1.00;MQ=43.97;MQ0=0;QD=30.28;SB=-4.697e+03;set=variant37;EFF=INTRON(MODIFIER||||512|ENSG00000159423|protein_coding|CODING|ENST00000538839|11|1),NEXT_PROT[helix](LOW||||563|ENSG00000159423|protein_coding|CODING|ENST00000290597|11|1),NEXT_PROT[helix](LOW||||563|ENSG00000159423|protein_coding|CODING|ENST00000290597|12|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|p.Ala347Ala/c.1041A>G|503|ENSG00000159423|protein_coding|CODING|ENST00000538309|12|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|p.Ala407Ala/c.1221A>G|563|ENSG00000159423|protein_coding|CODING|ENST00000290597|12|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|p.Ala407Ala/c.1221A>G|563|ENSG00000159423|protein_coding|CODING|ENST00000375341|12|1),UTR_3_PRIME(MODIFIER|||||ENSG00000255275|nonsense_mediated_decay|NON_CODING|ENST00000494072|20|1)	GT:AD:DP:GQ:PL	1/1:0,756:756:99:22891,1676,0
chr1	19203997	rs2230705	C	G	8815.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=9.488;DB;DP=853;Dels=0.00;FS=0.000;HaplotypeScore=10.9365;MLEAC=1;MLEAF=0.500;MQ=43.97;MQ0=0;MQRankSum=0.594;QD=10.33;ReadPosRankSum=-4.419;SB=-5.515e+03;set=variant37;EFF=SYNONYMOUS_CODING(LOW|SILENT|gcG/gcC|p.Ala290Ala/c.870G>C|503|ENSG00000159423|protein_coding|CODING|ENST00000538309|10|1),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcC|p.Ala350Ala/c.1050G>C|512|ENSG00000159423|protein_coding|CODING|ENST00000538839|10|1),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcC|p.Ala350Ala/c.1050G>C|563|ENSG00000159423|protein_coding|CODING|ENST00000290597|10|1),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcC|p.Ala350Ala/c.1050G>C|563|ENSG00000159423|protein_coding|CODING|ENST00000375341|10|1),UTR_3_PRIME(MODIFIER|||||ENSG00000255275|nonsense_mediated_decay|NON_CODING|ENST00000494072|18|1)	GT:AD:DP:GQ:PL	0/1:460,393:853:99:8815,0,10290
chr1	19635011	rs1043657	C	T	769.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=0.496;DB;DP=156;Dels=0.00;FS=18.708;HaplotypeScore=15.5172;MLEAC=1;MLEAF=0.500;MQ=30.75;MQ0=0;MQRankSum=-8.526;QD=4.93;ReadPosRankSum=4.734;SB=-3.140e+02;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000053371|retained_intron|CODING|ENST00000492217|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|p.Ala132Thr/c.394G>A|314|ENSG00000053371|protein_coding|CODING|ENST00000330072|2|1|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|p.Ala142Thr/c.424G>A|359|ENSG00000053371|protein_coding|CODING|ENST00000235835|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|p.Ala69Thr/c.205G>A|204|ENSG00000053371|protein_coding|CODING|ENST00000489286|2|1|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||12|||ENSG00000053371|nonsense_mediated_decay|CODING|ENST00000481966||1),UPSTREAM(MODIFIER||3335|||ENSG00000200403|snRNA|NON_CODING|ENST00000363533||1),UPSTREAM(MODIFIER||3809||291|ENSG00000040487|protein_coding|CODING|ENST00000375155||1),UPSTREAM(MODIFIER||3811||291|ENSG00000040487|protein_coding|CODING|ENST00000375153||1),UPSTREAM(MODIFIER||3813|||ENSG00000040487|nonsense_mediated_decay|CODING|ENST00000469076||1),UPSTREAM(MODIFIER||3824||226|ENSG00000040487|protein_coding|CODING|ENST00000400548||1),UPSTREAM(MODIFIER||4212|||ENSG00000040487|nonsense_mediated_decay|CODING|ENST00000497827||1);dbNSFP_FATHMM_score_converted=0.2607396339185656;dbNSFP_GERP++_RS=0.911;dbNSFP_1000Gp1_ASN_AF=0.0;dbNSFP_Ensembl_geneid=ENSG00000053371;dbNSFP_FATHMM_score=3.66;dbNSFP_1000Gp1_ASN_AC=0;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=5.664;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=0.999995;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=2.02;dbNSFP_1000Gp1_AMR_AC=26;dbNSFP_ESP6500_EA_AF=0.093721;dbNSFP_LRT_pred=D;dbNSFP_29way_pi=0.1571:0.6414:0.0:0.2014;dbNSFP_LRT_Omega=0.220555;dbNSFP_1000Gp1_AMR_AF=0.0718232044198895;dbNSFP_GERP++_NR=4.09;dbNSFP_Interpro_domain=NADP-dependent_oxidoreductase_domain_(3)|;dbNSFP_MutationAssessor_pred=M;dbNSFP_LRT_score=0.000292;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.999854;dbNSFP_phyloP=0.384000;dbNSFP_genename=AKR7A2;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.98;dbNSFP_Uniprot_acc=C9JSL3|B4DZX4|O43488;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.998|0.999|0.998;dbNSFP_UniSNP_ids=rs1043657|rs1043657;dbNSFP_SIFT_pred=D;dbNSFP_aapos=142|132;dbNSFP_1000Gp1_AFR_AF=0.018292682926829267;dbNSFP_1000Gp1_AFR_AC=9;dbNSFP_refcodon=GCA;dbNSFP_Uniprot_aapos=113|113|142;dbNSFP_1000Gp1_AC=108;dbNSFP_1000Gp1_AF=0.04945054945054945;dbNSFP_SIFT_score=0.020000;dbNSFP_Uniprot_id=.|.|ARK72_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000235835|ENST00000330072;dbNSFP_ESP6500_AA_AF=0.030867;dbNSFP_Polyphen2_HVAR_score=0.936|0.952|0.907;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=D|D|D;dbNSFP_1000Gp1_EUR_AF=0.09630606860158311;dbNSFP_Polyphen2_HVAR_pred=D|D|P;dbNSFP_MutationAssessor_score_converted=0.6566840277777778;dbNSFP_1000Gp1_EUR_AC=73	GT:AD:DP:GQ:PL	0/1:107,49:156:99:799,0,2678
chr1	20826910	rs529974	G	A	2479.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=10.523;DB;DP=163;Dels=0.00;FS=0.000;HaplotypeScore=1.9985;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.521;QD=15.21;ReadPosRankSum=-0.811;SB=-6.519e-03;set=variant37;EFF=UTR_3_PRIME(MODIFIER||||352|ENSG00000090432|protein_coding|CODING|ENST00000264198|4|1)	GT:AD:DP:GQ:PL	0/1:88,75:163:99:2509,0,2536
chr1	20827031	rs531651	A	G	256.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-1.664;DB;DP=12;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.185;QD=21.33;ReadPosRankSum=-0.555;SB=-6.519e-03;set=variant37;EFF=UTR_3_PRIME(MODIFIER||||352|ENSG00000090432|protein_coding|CODING|ENST00000264198|4|1)	GT:AD:DP:GQ:PL	0/1:3,9:12:81:286,0,81
chr1	20960230	rs45530340	C	T	2922.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-2.356;DB;DP=247;Dels=0.00;FS=2.184;HaplotypeScore=5.9980;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-2.090;QD=11.83;ReadPosRankSum=-1.452;SB=-1.501e+03;set=variant37;EFF=NEXT_PROT[transit_peptide:Mitochondrion](LOW||||581|ENSG00000158828|protein_coding|CODING|ENST00000321556|1|1),SYNONYMOUS_CODING(LOW|SILENT|ctC/ctT|p.Leu63Leu/c.189C>T|581|ENSG00000158828|protein_coding|CODING|ENST00000321556|1|1),UPSTREAM(MODIFIER||4392|||ENSG00000158828|processed_transcript|CODING|ENST00000492302||1)	GT:AD:DP:GQ:PL	0/1:118,129:247:99:2952,0,2530
chr1	20977000	rs1043424	A	C	6325.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=5.477;DB;DP=869;Dels=0.00;FS=3.180;HaplotypeScore=4.7044;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.168;QD=7.28;ReadPosRankSum=3.664;SB=-5.129e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||1270||439|ENSG00000244038|protein_coding|CODING|ENST00000602624||1),DOWNSTREAM(MODIFIER||1270||456|ENSG00000244038|protein_coding|CODING|ENST00000375048||1),DOWNSTREAM(MODIFIER||1547||419|ENSG00000244038|protein_coding|CODING|ENST00000415136||1),DOWNSTREAM(MODIFIER||2127|||ENSG00000244038|processed_transcript|CODING|ENST00000475210||1),DOWNSTREAM(MODIFIER||4933|||ENSG00000244038|processed_transcript|CODING|ENST00000464364||1),EXON(MODIFIER|||||ENSG00000117242|processed_transcript|NON_CODING|ENST00000451424|1|1),EXON(MODIFIER|||||ENSG00000158828|processed_transcript|CODING|ENST00000400490|4|1),EXON(MODIFIER|||||ENSG00000158828|processed_transcript|CODING|ENST00000492302|5|1),EXON(MODIFIER|||||ENSG00000257033|pseudogene|NON_CODING|ENST00000535128|2|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||581|ENSG00000158828|protein_coding|CODING|ENST00000321556|1|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||581|ENSG00000158828|protein_coding|CODING|ENST00000321556|2|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||581|ENSG00000158828|protein_coding|CODING|ENST00000321556|3|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||581|ENSG00000158828|protein_coding|CODING|ENST00000321556|4|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||581|ENSG00000158828|protein_coding|CODING|ENST00000321556|5|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||581|ENSG00000158828|protein_coding|CODING|ENST00000321556|6|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||581|ENSG00000158828|protein_coding|CODING|ENST00000321556|7|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||581|ENSG00000158828|protein_coding|CODING|ENST00000321556|8|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAt/aCt|p.Asn521Thr/c.1562A>C|581|ENSG00000158828|protein_coding|CODING|ENST00000321556|8|1);dbNSFP_FATHMM_score_converted=0.4277175943220023;dbNSFP_GERP++_RS=1.55;dbNSFP_1000Gp1_ASN_AF=0.36363636363636365;dbNSFP_Ensembl_geneid=ENSG00000158828;dbNSFP_FATHMM_score=-0.81;dbNSFP_1000Gp1_ASN_AC=208;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=7.3998;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=1.1;dbNSFP_1000Gp1_AMR_AC=80;dbNSFP_ESP6500_EA_AF=0.271279;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.6411:0.0:0.3589:0.0;dbNSFP_LRT_Omega=0.653207;dbNSFP_1000Gp1_AMR_AF=0.22099447513812154;dbNSFP_GERP++_NR=5.83;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=L;dbNSFP_LRT_score=0.169362;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.915319;dbNSFP_phyloP=0.382000;dbNSFP_genename=PINK1;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.76;dbNSFP_Uniprot_acc=Q9BXM7-2|Q9BXM7;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=0.004|0.022;dbNSFP_UniSNP_ids=rs1043424|rs60071348|rs1043424;dbNSFP_SIFT_pred=T;dbNSFP_aapos=521;dbNSFP_1000Gp1_AFR_AF=0.22154471544715448;dbNSFP_1000Gp1_AFR_AC=109;dbNSFP_refcodon=AAT;dbNSFP_Uniprot_aapos=214|521;dbNSFP_1000Gp1_AC=614;dbNSFP_1000Gp1_AF=0.28113553113553114;dbNSFP_SIFT_score=0.240000;dbNSFP_Uniprot_id=.|PINK1_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000321556;dbNSFP_ESP6500_AA_AF=0.26759;dbNSFP_Polyphen2_HVAR_score=0.005|0.006;dbNSFP_Ancestral_allele=A;dbNSFP_Polyphen2_HDIV_pred=B|B;dbNSFP_1000Gp1_EUR_AF=0.2862796833773087;dbNSFP_Polyphen2_HVAR_pred=B|B;dbNSFP_MutationAssessor_score_converted=0.5768229166666666;dbNSFP_1000Gp1_EUR_AC=217	GT:AD:DP:GQ:PL	0/1:547,322:869:99:6325,0,12836
chr1	24134721	rs719400	T	C	13279.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=321;Dels=0.00;FS=0.000;HaplotypeScore=2.7720;MLEAC=2;MLEAF=1.00;MQ=43.99;MQ0=0;QD=41.37;SB=-6.321e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||1056|||ENSG00000117305|retained_intron|CODING|ENST00000513148||1),EXON(MODIFIER|||||ENSG00000117305|processed_transcript|CODING|ENST00000496907|3|1),INTRON(MODIFIER|||||ENSG00000117305|processed_transcript|CODING|ENST00000509389|4|1),NEXT_PROT[helix](LOW||||254|ENSG00000117305|protein_coding|CODING|ENST00000436439|5|1),NEXT_PROT[helix](LOW||||325|ENSG00000117305|protein_coding|CODING|ENST00000374490|7|1),SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|p.Leu147Leu/c.441A>G|254|ENSG00000117305|protein_coding|CODING|ENST00000436439|5|1),SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|p.Leu193Leu/c.579A>G|300|ENSG00000117305|protein_coding|CODING|ENST00000374483|8|1),SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|p.Leu218Leu/c.654A>G|325|ENSG00000117305|protein_coding|CODING|ENST00000374490|7|1),SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|p.Leu74Leu/c.222A>G|181|ENSG00000117305|protein_coding|CODING|ENST00000235958|3|1|WARNING_TRANSCRIPT_NO_START_CODON),UTR_3_PRIME(MODIFIER|||||ENSG00000117305|nonsense_mediated_decay|CODING|ENST00000374487|8|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=4.74;dbNSFP_1000Gp1_ASN_AF=0.7954545454545454;dbNSFP_Ensembl_geneid=ENSG00000117305;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=455;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=7.9682;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=1.32724e-22;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=331;dbNSFP_ESP6500_EA_AF=0.908488;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=0.13:0.7308:0.0:0.1392;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=0.914364640883978;dbNSFP_GERP++_NR=5.65;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=0.768000;dbNSFP_genename=HMGCL;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=rs719400|rs17845267|rs17858097|rs59154801|rs719400;dbNSFP_SIFT_pred=.;dbNSFP_aapos=75;dbNSFP_1000Gp1_AFR_AF=0.959349593495935;dbNSFP_1000Gp1_AFR_AC=472;dbNSFP_refcodon=TAT;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=1955;dbNSFP_1000Gp1_AF=0.8951465201465202;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=ENST00000235958;dbNSFP_ESP6500_AA_AF=0.960962;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=0.9195250659630607;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=697	GT:AD:DP:GQ:PL	1/1:0,321:321:99:13279,957,0
chr1	25167420	.	A	G	6777.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=5.253;DP=541;Dels=0.00;FS=2.670;HaplotypeScore=5.5322;MLEAC=1;MLEAF=0.500;MQ=37.14;MQ0=0;MQRankSum=-2.424;QD=12.53;ReadPosRankSum=-1.516;SB=-9.650e+02;set=variant37;EFF=DOWNSTREAM(MODIFIER||1022|||ENSG00000169504|processed_transcript|CODING|ENST00000497755||1),EXON(MODIFIER|||||ENSG00000169504|nonsense_mediated_decay|CODING|ENST00000488683|6|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|p.Thr252Ala/c.754A>G|253|ENSG00000169504|protein_coding|CODING|ENST00000374379|6|1);dbNSFP_FATHMM_score_converted=0.32312289876727684;dbNSFP_GERP++_RS=4.49;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=ENSG00000169504;dbNSFP_FATHMM_score=1.99;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=N;dbNSFP_29way_logOdds=6.456;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=0.998792;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=-0.57;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=D;dbNSFP_29way_pi=0.788:0.0:0.0724:0.1396;dbNSFP_LRT_Omega=0.170277;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=5.65;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.000036;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.999982;dbNSFP_phyloP=0.917000;dbNSFP_genename=CLIC4;dbNSFP_MutationTaster_score_converted=0.0012079999999999869;dbNSFP_SIFT_score_converted=0.81;dbNSFP_Uniprot_acc=B3KTR3|Q9Y696;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.0|0.0;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=T;dbNSFP_aapos=252;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=ACC;dbNSFP_Uniprot_aapos=232|252;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=0.190000;dbNSFP_Uniprot_id=.|CLIC4_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000374379;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=0.0|0.0;dbNSFP_Ancestral_allele=A;dbNSFP_Polyphen2_HDIV_pred=B|B;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=B|B;dbNSFP_MutationAssessor_score_converted=0.4318576388888889;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:280,261:541:99:6777,0,7117
chr1	28564279	rs9508	A	G	12553.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-18.838;DB;DP=1230;Dels=0.00;FS=0.000;HaplotypeScore=8.8421;MLEAC=1;MLEAF=0.500;MQ=43.99;MQ0=0;MQRankSum=-0.824;QD=10.21;ReadPosRankSum=-2.841;SB=-9.180e+03;set=variant37;EFF=INTRON(MODIFIER||||106|ENSG00000130770|protein_coding|CODING|ENST00000335514|2|1),INTRON(MODIFIER||||75|ENSG00000130770|protein_coding|CODING|ENST00000468425|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Ggg|p.Arg63Gly/c.187A>G|71|ENSG00000130770|protein_coding|CODING|ENST00000497986|3|1),UPSTREAM(MODIFIER||4743||253|ENSG00000126698|protein_coding|CODING|ENST00000263697||1),UPSTREAM(MODIFIER||4743|||ENSG00000126698|processed_transcript|CODING|ENST00000489277||1),UPSTREAM(MODIFIER||4748|||ENSG00000126698|processed_transcript|CODING|ENST00000488868||1),UPSTREAM(MODIFIER||4764|||ENSG00000126698|processed_transcript|CODING|ENST00000482674||1),UTR_3_PRIME(MODIFIER||||60|ENSG00000130770|protein_coding|CODING|ENST00000465645|2|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=-6.62;dbNSFP_1000Gp1_ASN_AF=0.12062937062937062;dbNSFP_Ensembl_geneid=ENSG00000130770;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=69;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=8.5822;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=2;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=110;dbNSFP_ESP6500_EA_AF=0.300116;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=0.3894:0.1183:0.4923:0.0;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=0.30386740331491713;dbNSFP_GERP++_NR=4.04;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=-1.963000;dbNSFP_genename=ATPIF1;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.08999999999999997;dbNSFP_Uniprot_acc=Q9UII2-2;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.002;dbNSFP_UniSNP_ids=rs9508|rs1466786|rs3170652|rs17163023|rs56454924|rs57778066|rs9508;dbNSFP_SIFT_pred=T;dbNSFP_aapos=63;dbNSFP_1000Gp1_AFR_AF=0.6808943089430894;dbNSFP_1000Gp1_AFR_AC=335;dbNSFP_refcodon=AGG;dbNSFP_Uniprot_aapos=63;dbNSFP_1000Gp1_AC=746;dbNSFP_1000Gp1_AF=0.3415750915750916;dbNSFP_SIFT_score=0.910000;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=ENST00000497986;dbNSFP_ESP6500_AA_AF=0.603041;dbNSFP_Polyphen2_HVAR_score=0.003;dbNSFP_Ancestral_allele=a;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.30606860158311344;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=232	GT:AD:DP:GQ:PL	0/1:579,651:1230:99:12553,0,11181
chr1	29529699	rs1062924	T	C	7748.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=275;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=28.17;SB=-3.403e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||3587|||ENSG00000116353|processed_transcript|CODING|ENST00000474946||1),DOWNSTREAM(MODIFIER||8|||ENSG00000116353|processed_transcript|CODING|ENST00000475861||1),EXON(MODIFIER|||||ENSG00000116353|nonsense_mediated_decay|CODING|ENST00000463412|3|1),EXON(MODIFIER|||||ENSG00000116353|processed_transcript|CODING|ENST00000475773|1|1),EXON(MODIFIER|||||ENSG00000116353|processed_transcript|CODING|ENST00000478505|5|1),EXON(MODIFIER|||||ENSG00000116353|processed_transcript|CODING|ENST00000489248|7|1),INTRON(MODIFIER|||||ENSG00000116353|processed_transcript|CODING|ENST00000463052|6|1),INTRON(MODIFIER|||||ENSG00000116353|processed_transcript|CODING|ENST00000473030|3|1),INTRON(MODIFIER|||||ENSG00000116353|processed_transcript|CODING|ENST00000490529|4|1),NEXT_PROT[helix](LOW||||373|ENSG00000116353|protein_coding|CODING|ENST00000263702|5|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|p.Ala123Ala/c.369A>G|297|ENSG00000116353|protein_coding|CODING|ENST00000373791|5|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|p.Ala199Ala/c.597A>G|373|ENSG00000116353|protein_coding|CODING|ENST00000263702|5|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|p.Ala38Ala/c.114A>G|189|ENSG00000116353|protein_coding|CODING|ENST00000453185|2|1|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||17|||ENSG00000116353|processed_transcript|CODING|ENST00000464511||1),UPSTREAM(MODIFIER||2598|||ENSG00000116353|processed_transcript|CODING|ENST00000483435||1)	GT:AD:DP:GQ:PL	1/1:0,275:275:99:7748,551,0
chr1	29542637	rs1128400	A	G	12772.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=531;Dels=0.00;FS=0.000;HaplotypeScore=4.7712;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=24.05;SB=-1.006e+04;set=variant37;EFF=DOWNSTREAM(MODIFIER||4758|||ENSG00000116353|processed_transcript|CODING|ENST00000493928||1),DOWNSTREAM(MODIFIER||476|||ENSG00000116353|processed_transcript|CODING|ENST00000484012||1),EXON(MODIFIER|||||ENSG00000116353|processed_transcript|CODING|ENST00000463052|5|1),EXON(MODIFIER|||||ENSG00000116353|processed_transcript|CODING|ENST00000464915|4|1),EXON(MODIFIER|||||ENSG00000116353|processed_transcript|CODING|ENST00000473030|2|1),EXON(MODIFIER|||||ENSG00000116353|processed_transcript|CODING|ENST00000474946|4|1),EXON(MODIFIER|||||ENSG00000116353|processed_transcript|CODING|ENST00000475861|4|1),EXON(MODIFIER|||||ENSG00000116353|processed_transcript|CODING|ENST00000478505|3|1),EXON(MODIFIER|||||ENSG00000116353|processed_transcript|CODING|ENST00000482610|5|1),EXON(MODIFIER|||||ENSG00000116353|processed_transcript|CODING|ENST00000489248|5|1),EXON(MODIFIER|||||ENSG00000116353|processed_transcript|CODING|ENST00000490529|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Ctc|p.Phe20Leu/c.58T>C|297|ENSG00000116353|protein_coding|CODING|ENST00000373791|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttc/Ctc|p.Phe96Leu/c.286T>C|373|ENSG00000116353|protein_coding|CODING|ENST00000263702|3|1),UPSTREAM(MODIFIER||96|||ENSG00000116353|nonsense_mediated_decay|CODING|ENST00000463412||1);dbNSFP_FATHMM_score_converted=0.3597310422114307;dbNSFP_GERP++_RS=1.39;dbNSFP_1000Gp1_ASN_AF=0.5367132867132867;dbNSFP_Ensembl_geneid=ENSG00000116353;dbNSFP_FATHMM_score=1.01;dbNSFP_1000Gp1_ASN_AC=307;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=4.877;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=0.999986;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=-0.38;dbNSFP_1000Gp1_AMR_AC=279;dbNSFP_ESP6500_EA_AF=0.891395;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.2167:0.0:0.5299:0.2534;dbNSFP_LRT_Omega=0.108052;dbNSFP_1000Gp1_AMR_AF=0.7707182320441989;dbNSFP_GERP++_NR=5.53;dbNSFP_Interpro_domain=GroES-like_(1)|Alcohol_dehydrogenase_GroES-like_(1)|;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.000005;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.9999975;dbNSFP_phyloP=0.052000;dbNSFP_genename=MECR;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.35;dbNSFP_Uniprot_acc=Q9BV79;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.0;dbNSFP_UniSNP_ids=rs1128400|rs3003637|rs3185310|rs3738064|rs11544660|rs17856049|rs52791171|rs58845977|rs1128400;dbNSFP_SIFT_pred=T;dbNSFP_aapos=20|96|8;dbNSFP_1000Gp1_AFR_AF=0.7296747967479674;dbNSFP_1000Gp1_AFR_AC=359;dbNSFP_refcodon=TTC;dbNSFP_Uniprot_aapos=96;dbNSFP_1000Gp1_AC=1611;dbNSFP_1000Gp1_AF=0.7376373626373627;dbNSFP_SIFT_score=0.650000;dbNSFP_Uniprot_id=MECR_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000373791|ENST00000263702|ENST00000373792;dbNSFP_ESP6500_AA_AF=0.765774;dbNSFP_Polyphen2_HVAR_score=0.0;dbNSFP_Ancestral_allele=G;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.8786279683377308;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=0.4483506944444445;dbNSFP_1000Gp1_EUR_AC=666	GT:AD:DP:GQ:PL	1/1:0,530:531:99:12772,870,0
chr1	36921371	rs1538634	G	T	12186.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-20.962;DB;DP=1204;Dels=0.00;FS=3.152;HaplotypeScore=7.4858;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-1.032;QD=10.12;ReadPosRankSum=3.561;SB=-7.667e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||2|||ENSG00000116898|processed_transcript|CODING|ENST00000488606||1),DOWNSTREAM(MODIFIER||3|||ENSG00000116898|processed_transcript|CODING|ENST00000477040||1),DOWNSTREAM(MODIFIER||4|||ENSG00000116898|processed_transcript|CODING|ENST00000462067||1),UTR_3_PRIME(MODIFIER||||257|ENSG00000116898|protein_coding|CODING|ENST00000373116|8|1)	GT:AD:DP:GQ:PL	0/1:642,562:1204:99:12186,0,13860
chr1	36921812	rs143704525	C	T	7028.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-11.989;DB;DP=392;Dels=0.00;FS=10.314;HaplotypeScore=2.8799;MLEAC=1;MLEAF=0.500;MQ=41.33;MQ0=0;MQRankSum=-0.473;QD=17.93;ReadPosRankSum=-2.450;SB=-1.660e+03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000116898|processed_transcript|CODING|ENST00000462067|3|1),EXON(MODIFIER|||||ENSG00000116898|processed_transcript|CODING|ENST00000477040|1|1),EXON(MODIFIER|||||ENSG00000116898|processed_transcript|CODING|ENST00000488606|2|1),SYNONYMOUS_CODING(LOW|SILENT|gtG/gtA|p.Val204Val/c.612G>A|257|ENSG00000116898|protein_coding|CODING|ENST00000373116|7|1)	GT:AD:DP:GQ:PL	0/1:186,206:392:99:7028,0,6452
chr1	36927733	rs111308179	G	A	11265.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=276;Dels=0.00;FS=0.000;HaplotypeScore=0.9973;MLEAC=2;MLEAF=1.00;MQ=43.94;MQ0=0;QD=40.82;SB=-6.519e-03;set=variant37;EFF=DOWNSTREAM(MODIFIER||3911||783|ENSG00000119535|protein_coding|CODING|ENST00000373104||1),DOWNSTREAM(MODIFIER||3911||836|ENSG00000119535|protein_coding|CODING|ENST00000373106||1),DOWNSTREAM(MODIFIER||3911||863|ENSG00000119535|protein_coding|CODING|ENST00000373103||1),DOWNSTREAM(MODIFIER||3912||836|ENSG00000119535|protein_coding|CODING|ENST00000361632||1),DOWNSTREAM(MODIFIER||3912|||ENSG00000119535|retained_intron|CODING|ENST00000480825||1),DOWNSTREAM(MODIFIER||3951||387|ENSG00000119535|protein_coding|CODING|ENST00000464465||1),DOWNSTREAM(MODIFIER||3964||783|ENSG00000119535|protein_coding|CODING|ENST00000331941||1),DOWNSTREAM(MODIFIER||3986||769|ENSG00000119535|protein_coding|CODING|ENST00000338937||1),DOWNSTREAM(MODIFIER||3986||836|ENSG00000119535|protein_coding|CODING|ENST00000418048||1),DOWNSTREAM(MODIFIER||3986|||ENSG00000119535|processed_transcript|CODING|ENST00000487540||1),DOWNSTREAM(MODIFIER||4225||863|ENSG00000119535|protein_coding|CODING|ENST00000440588||1),DOWNSTREAM(MODIFIER||4450|||ENSG00000119535|retained_intron|CODING|ENST00000484762||1),INTRON(MODIFIER|||||ENSG00000116898|processed_transcript|CODING|ENST00000462067|1|1),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|p.Pro69Pro/c.207C>T|257|ENSG00000116898|protein_coding|CODING|ENST00000373116|3|1),UPSTREAM(MODIFIER||2429|||ENSG00000116898|processed_transcript|CODING|ENST00000488606||1)	GT:AD:DP:GQ:PL	1/1:0,276:276:99:11265,831,0
chr1	45797505	rs3219489	C	G	11737.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=0.053;DB;DP=954;Dels=0.00;FS=0.236;HaplotypeScore=27.4202;MLEAC=1;MLEAF=0.500;MQ=43.99;MQ0=0;MQRankSum=0.696;QD=12.30;ReadPosRankSum=-0.397;SB=-1.052e+04;set=variant37;EFF=DOWNSTREAM(MODIFIER||1007|||ENSG00000132781|retained_intron|CODING|ENST00000462387||1),DOWNSTREAM(MODIFIER||1220|||ENSG00000132781|retained_intron|CODING|ENST00000474703||1),DOWNSTREAM(MODIFIER||1580||93|ENSG00000132781|protein_coding|CODING|ENST00000483127||1),DOWNSTREAM(MODIFIER||192|||ENSG00000132781|nonsense_mediated_decay|CODING|ENST00000470256||1),DOWNSTREAM(MODIFIER||203|||ENSG00000132781|nonsense_mediated_decay|CODING|ENST00000461495||1),DOWNSTREAM(MODIFIER||2267|||ENSG00000132781|retained_intron|CODING|ENST00000534453||1),DOWNSTREAM(MODIFIER||3158||371|ENSG00000186603|protein_coding|CODING|ENST00000334815||1),DOWNSTREAM(MODIFIER||342||290|ENSG00000132781|protein_coding|CODING|ENST00000435155||1),DOWNSTREAM(MODIFIER||387|||ENSG00000132781|nonsense_mediated_decay|CODING|ENST00000467940||1),DOWNSTREAM(MODIFIER||390|||ENSG00000132781|retained_intron|CODING|ENST00000478796||1),DOWNSTREAM(MODIFIER||558||247|ENSG00000132781|protein_coding|CODING|ENST00000528013||1),DOWNSTREAM(MODIFIER||571|||ENSG00000132781|nonsense_mediated_decay|CODING|ENST00000525160||1),DOWNSTREAM(MODIFIER||734|||ENSG00000132781|retained_intron|CODING|ENST00000479746||1),DOWNSTREAM(MODIFIER||746|||ENSG00000132781|retained_intron|CODING|ENST00000492494||1),DOWNSTREAM(MODIFIER||782|||ENSG00000132781|retained_intron|CODING|ENST00000483642||1),DOWNSTREAM(MODIFIER||844|||ENSG00000132781|retained_intron|CODING|ENST00000481139||1),DOWNSTREAM(MODIFIER||913|||ENSG00000132781|retained_intron|CODING|ENST00000485484||1),DOWNSTREAM(MODIFIER||930|||ENSG00000132781|retained_intron|CODING|ENST00000476789||1),EXON(MODIFIER|||||ENSG00000132781|nonsense_mediated_decay|CODING|ENST00000467459|4|1),EXON(MODIFIER|||||ENSG00000132781|retained_intron|CODING|ENST00000462388|5|1),EXON(MODIFIER|||||ENSG00000132781|retained_intron|CODING|ENST00000466231|3|1),EXON(MODIFIER|||||ENSG00000132781|retained_intron|CODING|ENST00000482094|1|1),INTRON(MODIFIER||||212|ENSG00000132781|protein_coding|CODING|ENST00000529892|2|1),INTRON(MODIFIER||||216|ENSG00000132781|protein_coding|CODING|ENST00000488731|3|1),INTRON(MODIFIER||||216|ENSG00000132781|protein_coding|CODING|ENST00000529984|3|1),INTRON(MODIFIER||||230|ENSG00000132781|protein_coding|CODING|ENST00000528332|3|1),INTRON(MODIFIER||||62|ENSG00000132781|protein_coding|CODING|ENST00000531105|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|p.Gln182His/c.546G>C|214|ENSG00000132781|protein_coding|CODING|ENST00000412971|7|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|p.Gln310His/c.930G>C|521|ENSG00000132781|protein_coding|CODING|ENST00000355498|12|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|p.Gln310His/c.930G>C|521|ENSG00000132781|protein_coding|CODING|ENST00000372104|13|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|p.Gln310His/c.930G>C|521|ENSG00000132781|protein_coding|CODING|ENST00000456914|12|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|p.Gln311His/c.933G>C|522|ENSG00000132781|protein_coding|CODING|ENST00000354383|12|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|p.Gln321His/c.963G>C|532|ENSG00000132781|protein_coding|CODING|ENST00000372100|12|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|p.Gln321His/c.963G>C|532|ENSG00000132781|protein_coding|CODING|ENST00000448481|12|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|p.Gln324His/c.972G>C|535|ENSG00000132781|protein_coding|CODING|ENST00000372115|12|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|p.Gln325His/c.975G>C|536|ENSG00000132781|protein_coding|CODING|ENST00000372110|12|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|p.Gln335His/c.1005G>C|546|ENSG00000132781|protein_coding|CODING|ENST00000372098|12|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|p.Gln338His/c.1014G>C|549|ENSG00000132781|protein_coding|CODING|ENST00000450313|12|1),UPSTREAM(MODIFIER||563|||ENSG00000132781|nonsense_mediated_decay|CODING|ENST00000485271||1),UTR_3_PRIME(MODIFIER|||||ENSG00000132781|nonsense_mediated_decay|CODING|ENST00000475516|12|1),UTR_3_PRIME(MODIFIER|||||ENSG00000132781|nonsense_mediated_decay|CODING|ENST00000481571|12|1),UTR_3_PRIME(MODIFIER|||||ENSG00000132781|nonsense_mediated_decay|CODING|ENST00000533178|6|1);dbNSFP_FATHMM_score_converted=0.32536421367202095;dbNSFP_GERP++_RS=1.26;dbNSFP_1000Gp1_ASN_AF=0.4195804195804196;dbNSFP_Ensembl_geneid=ENSG00000132781;dbNSFP_FATHMM_score=1.93;dbNSFP_1000Gp1_ASN_AC=240;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=2.4732;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=0.946188;dbNSFP_fold-degenerate=2;dbNSFP_MutationAssessor_score=2.125;dbNSFP_1000Gp1_AMR_AC=149;dbNSFP_ESP6500_EA_AF=0.249186;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.1089:0.4092:0.1175:0.3645;dbNSFP_LRT_Omega=0.475733;dbNSFP_1000Gp1_AMR_AF=0.4116022099447514;dbNSFP_GERP++_NR=5.66;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=M;dbNSFP_LRT_score=0.038471;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.9807645;dbNSFP_phyloP=0.240000;dbNSFP_genename=MUTYH;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.86;dbNSFP_Uniprot_acc=E5KP25|E5KP26|Q9UIF7-2|Q9UIF7|E5KP27|D3DPZ6|E5KP28;dbNSFP_codonpos=3;dbNSFP_Polyphen2_HDIV_score=0.343|0.645|0.326|0.645|0.219|0.324|0.219;dbNSFP_UniSNP_ids=rs3219489|rs3811430|rs3219489;dbNSFP_SIFT_pred=T;dbNSFP_aapos=310|321|310|311|310|335|325|324|338|321|182|182;dbNSFP_1000Gp1_AFR_AF=0.25203252032520324;dbNSFP_1000Gp1_AFR_AC=124;dbNSFP_refcodon=CAG;dbNSFP_Uniprot_aapos=338|335|325|335|324|218|311;dbNSFP_1000Gp1_AC=696;dbNSFP_1000Gp1_AF=0.31868131868131866;dbNSFP_SIFT_score=0.140000;dbNSFP_Uniprot_id=.|.|.|MUTYH_HUMAN|.|.|.;dbNSFP_Ensembl_transcriptid=ENST00000372104|ENST00000448481|ENST00000456914|ENST00000354383|ENST00000355498|ENST00000372098|ENST00000372110|ENST00000372115|ENST00000450313|ENST00000372100|ENST00000525481|ENST00000412971;dbNSFP_ESP6500_AA_AF=0.263744;dbNSFP_Polyphen2_HVAR_score=0.086|0.124|0.18|0.124|0.087|0.124|0.06;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=B|P|B|P|B|B|B;dbNSFP_1000Gp1_EUR_AF=0.24142480211081793;dbNSFP_Polyphen2_HVAR_pred=B|B|B|B|B|B|B;dbNSFP_MutationAssessor_score_converted=0.6657986111111112;dbNSFP_1000Gp1_EUR_AC=183	GT:AD:DP:GQ:PL	0/1:376,577:954:99:11737,0,7226
chr1	46774783	rs41292543	A	G	5408.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=0.346;DB;DP=339;Dels=0.00;FS=0.571;HaplotypeScore=0.9867;MLEAC=1;MLEAF=0.500;MQ=43.48;MQ0=0;MQRankSum=3.905;QD=15.95;ReadPosRankSum=-0.077;SB=-8.960e+02;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000173660|processed_transcript|CODING|ENST00000486951|2|1),EXON(MODIFIER|||||ENSG00000173660|processed_transcript|CODING|ENST00000489056|2|1),EXON(MODIFIER|||||ENSG00000173660|processed_transcript|CODING|ENST00000496387|2|1),NEXT_PROT[compositionally_biased_region:Poly-Glu](LOW||||91|ENSG00000173660|protein_coding|CODING|ENST00000311672|1|1),NEXT_PROT[compositionally_biased_region:Poly-Glu](LOW||||91|ENSG00000173660|protein_coding|CODING|ENST00000311672|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAa/gGa|p.Glu22Gly/c.65A>G|91|ENSG00000173660|protein_coding|CODING|ENST00000311672|2|1),UPSTREAM(MODIFIER||810|||ENSG00000173660|processed_transcript|CODING|ENST00000460947||1);dbNSFP_FATHMM_score_converted=0.37093761673515124;dbNSFP_GERP++_RS=4.88;dbNSFP_1000Gp1_ASN_AF=0.0;dbNSFP_Ensembl_geneid=ENSG00000173660;dbNSFP_FATHMM_score=0.71;dbNSFP_1000Gp1_ASN_AC=0;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=12.2515;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=7.12843e-05;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=28;dbNSFP_ESP6500_EA_AF=0.10593;dbNSFP_LRT_pred=D;dbNSFP_29way_pi=1.0:0.0:0.0:0.0;dbNSFP_LRT_Omega=0.000000;dbNSFP_1000Gp1_AMR_AF=0.07734806629834254;dbNSFP_GERP++_NR=4.88;dbNSFP_Interpro_domain=Ubiquinol-cytochrome_C_reductase_hinge_domain_(2)|;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=0.000000;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=1.0;dbNSFP_phyloP=2.169000;dbNSFP_genename=UQCRH;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.98;dbNSFP_Uniprot_acc=P07919;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=0.987;dbNSFP_UniSNP_ids=rs41292543;dbNSFP_SIFT_pred=D;dbNSFP_aapos=22;dbNSFP_1000Gp1_AFR_AF=0.008130081300813009;dbNSFP_1000Gp1_AFR_AC=4;dbNSFP_refcodon=GAA;dbNSFP_Uniprot_aapos=22;dbNSFP_1000Gp1_AC=108;dbNSFP_1000Gp1_AF=0.04945054945054945;dbNSFP_SIFT_score=0.020000;dbNSFP_Uniprot_id=QCR6_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000311672;dbNSFP_ESP6500_AA_AF=0.020654;dbNSFP_Polyphen2_HVAR_score=0.755;dbNSFP_Ancestral_allele=A;dbNSFP_Polyphen2_HDIV_pred=D;dbNSFP_1000Gp1_EUR_AF=0.10026385224274406;dbNSFP_Polyphen2_HVAR_pred=P;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=76	GT:AD:DP:GQ:PL	0/1:158,181:339:99:5408,0,4636
chr1	47133811	rs11211337	T	C	5147.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=170;Dels=0.00;FS=0.000;HaplotypeScore=1.6208;MLEAC=2;MLEAF=1.00;MQ=43.96;MQ0=0;QD=30.28;SB=-1.378e+03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000123472|nonsense_mediated_decay|CODING|ENST00000487193|1|1),INTRON(MODIFIER||||418|ENSG00000159658|protein_coding|CODING|ENST00000544071|9|1),INTRON(MODIFIER|||||ENSG00000123472|processed_transcript|CODING|ENST00000525633|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|p.Ser62Gly/c.184A>G|260|ENSG00000123472|protein_coding|CODING|ENST00000574428|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|p.Ser62Gly/c.184A>G|328|ENSG00000123472|protein_coding|CODING|ENST00000371937|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|p.Ser85Gly/c.253A>G|283|ENSG00000123472|protein_coding|CODING|ENST00000329231|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|p.Ser85Gly/c.253A>G|351|ENSG00000123472|protein_coding|CODING|ENST00000576409|1|1),UPSTREAM(MODIFIER||1764|||ENSG00000233647|processed_pseudogene|NON_CODING|ENST00000419476||1),UPSTREAM(MODIFIER||2284||177|ENSG00000123472|protein_coding|CODING|ENST00000542495||1),UPSTREAM(MODIFIER||2284||240|ENSG00000123472|protein_coding|CODING|ENST00000532925||1),UPSTREAM(MODIFIER||2284|||ENSG00000123472|nonsense_mediated_decay|CODING|ENST00000529214||1),UPSTREAM(MODIFIER||2767||174|ENSG00000123472|protein_coding|CODING|ENST00000526821||1),UPSTREAM(MODIFIER||30|||ENSG00000123472|retained_intron|CODING|ENST00000474020||1),UPSTREAM(MODIFIER||3634||260|ENSG00000186118|protein_coding|CODING|ENST00000569393||1),UPSTREAM(MODIFIER||3689||206|ENSG00000186118|protein_coding|CODING|ENST00000334122||1),UPSTREAM(MODIFIER||3720||130|ENSG00000186118|protein_coding|CODING|ENST00000415500||1),UPSTREAM(MODIFIER||3739||152|ENSG00000186118|protein_coding|CODING|ENST00000564373||1),UPSTREAM(MODIFIER||37|||ENSG00000123472|retained_intron|CODING|ENST00000460928||1),UPSTREAM(MODIFIER||716||138|ENSG00000186118|protein_coding|CODING|ENST00000564071||1);dbNSFP_FATHMM_score_converted=0.36047814717967885;dbNSFP_GERP++_RS=0.687;dbNSFP_1000Gp1_ASN_AF=0.9195804195804196;dbNSFP_Ensembl_geneid=ENSG00000123472;dbNSFP_FATHMM_score=0.99;dbNSFP_1000Gp1_ASN_AC=526;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=6.369;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=0.999994;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=0;dbNSFP_1000Gp1_AMR_AC=318;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.1196:0.5222:0.0:0.3582;dbNSFP_LRT_Omega=0.456956;dbNSFP_1000Gp1_AMR_AF=0.8784530386740331;dbNSFP_GERP++_NR=5.26;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.135495;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.9322525;dbNSFP_phyloP=0.003000;dbNSFP_genename=ATPAF1;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.61;dbNSFP_Uniprot_acc=A8MRA7|Q5TC12;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.0|0.0;dbNSFP_UniSNP_ids=rs11211337|rs17845588|rs17855395|rs17858493;dbNSFP_SIFT_pred=T;dbNSFP_aapos=62;dbNSFP_1000Gp1_AFR_AF=0.8658536585365854;dbNSFP_1000Gp1_AFR_AC=426;dbNSFP_refcodon=AGC;dbNSFP_Uniprot_aapos=62|62;dbNSFP_1000Gp1_AC=1852;dbNSFP_1000Gp1_AF=0.847985347985348;dbNSFP_SIFT_score=0.390000;dbNSFP_Uniprot_id=.|ATPF1_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000371937|ENST00000329231;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=0.0|0.0;dbNSFP_Ancestral_allele=c;dbNSFP_Polyphen2_HDIV_pred=B|B;dbNSFP_1000Gp1_EUR_AF=0.7678100263852242;dbNSFP_Polyphen2_HVAR_pred=B|B;dbNSFP_MutationAssessor_score_converted=0.4813368055555556;dbNSFP_1000Gp1_EUR_AC=582	GT:AD:DP:GQ:PL	1/1:0,170:170:99:5147,370,0
chr1	52264064	rs1770791	A	G	10501.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-5.621;DB;DP=566;Dels=0.00;FS=0.630;HaplotypeScore=1.9157;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.558;QD=18.55;ReadPosRankSum=0.555;SB=-4.618e+03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000078618|processed_transcript|CODING|ENST00000485608|22|1),EXON(MODIFIER|||||ENSG00000078618|processed_transcript|CODING|ENST00000497358|3|1),EXON(MODIFIER|||||ENSG00000266993|antisense|NON_CODING|ENST00000586761|2|1),EXON(MODIFIER|||||ENSG00000266993|antisense|NON_CODING|ENST00000588291|2|1),EXON(MODIFIER|||||ENSG00000266993|antisense|NON_CODING|ENST00000591675|2|1),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|p.Leu235Leu/c.703T>C|537|ENSG00000078618|protein_coding|CODING|ENST00000440943|8|1|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|p.Leu689Leu/c.2065T>C|747|ENSG00000078618|protein_coding|CODING|ENST00000544028|22|1),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|p.Leu757Leu/c.2269T>C|1087|ENSG00000078618|protein_coding|CODING|ENST00000539524|24|1),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|p.Leu821Leu/c.2461T>C|1151|ENSG00000078618|protein_coding|CODING|ENST00000352171|22|1),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|p.Leu889Leu/c.2665T>C|1219|ENSG00000078618|protein_coding|CODING|ENST00000354831|24|1),UPSTREAM(MODIFIER||2684|||ENSG00000078618|processed_transcript|CODING|ENST00000475310||1),UPSTREAM(MODIFIER||96|||ENSG00000078618|processed_transcript|CODING|ENST00000490160||1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=3.76;dbNSFP_1000Gp1_ASN_AF=0.18356643356643357;dbNSFP_Ensembl_geneid=ENSG00000078618;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=105;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=10.5457;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=3.11125e-19;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=131;dbNSFP_ESP6500_EA_AF=0.241628;dbNSFP_LRT_pred=D;dbNSFP_29way_pi=0.3166:0.0:0.6834:0.0;dbNSFP_LRT_Omega=0.000000;dbNSFP_1000Gp1_AMR_AF=0.36187845303867405;dbNSFP_GERP++_NR=5.64;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=0.000001;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.9999995;dbNSFP_phyloP=0.489000;dbNSFP_genename=NRD1;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=rs1770791|rs58390176|rs1770791;dbNSFP_SIFT_pred=.;dbNSFP_aapos=235;dbNSFP_1000Gp1_AFR_AF=0.6504065040650406;dbNSFP_1000Gp1_AFR_AC=320;dbNSFP_refcodon=CTT;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=738;dbNSFP_1000Gp1_AF=0.33791208791208793;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=ENST00000440943;dbNSFP_ESP6500_AA_AF=0.587608;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=G;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=0.24010554089709762;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=182	GT:AD:DP:GQ:PL	0/1:267,299:566:99:10501,0,9143
chr1	52266242	rs8375	G	A	17413.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=17.218;DB;DP=1653;Dels=0.00;FS=0.942;HaplotypeScore=10.6019;MLEAC=1;MLEAF=0.500;MQ=43.99;MQ0=0;MQRankSum=0.635;QD=10.53;ReadPosRankSum=-1.367;SB=-1.351e+04;set=variant37;EFF=DOWNSTREAM(MODIFIER||1418|||ENSG00000266993|antisense|NON_CODING|ENST00000586761||1),DOWNSTREAM(MODIFIER||2143|||ENSG00000266993|antisense|NON_CODING|ENST00000588291||1),DOWNSTREAM(MODIFIER||2161|||ENSG00000266993|antisense|NON_CODING|ENST00000591675||1),EXON(MODIFIER|||||ENSG00000078618|processed_transcript|CODING|ENST00000485608|21|1),EXON(MODIFIER|||||ENSG00000078618|processed_transcript|CODING|ENST00000497358|2|1),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|p.Pro223Pro/c.669C>T|537|ENSG00000078618|protein_coding|CODING|ENST00000440943|7|1|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|p.Pro677Pro/c.2031C>T|747|ENSG00000078618|protein_coding|CODING|ENST00000544028|21|1),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|p.Pro745Pro/c.2235C>T|1087|ENSG00000078618|protein_coding|CODING|ENST00000539524|23|1),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|p.Pro809Pro/c.2427C>T|1151|ENSG00000078618|protein_coding|CODING|ENST00000352171|21|1),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|p.Pro877Pro/c.2631C>T|1219|ENSG00000078618|protein_coding|CODING|ENST00000354831|23|1),UPSTREAM(MODIFIER||2274|||ENSG00000078618|processed_transcript|CODING|ENST00000490160||1),UPSTREAM(MODIFIER||4862|||ENSG00000078618|processed_transcript|CODING|ENST00000475310||1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=-4.12;dbNSFP_1000Gp1_ASN_AF=0.8146853146853147;dbNSFP_Ensembl_geneid=ENSG00000078618;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=466;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=1.9029;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=7.27901e-07;dbNSFP_fold-degenerate=2;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=202;dbNSFP_ESP6500_EA_AF=0.502442;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=0.3099:0.0964:0.3421:0.2516;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=0.5580110497237569;dbNSFP_GERP++_NR=4.91;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=-0.487000;dbNSFP_genename=NRD1;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=rs8375|rs1126997|rs2273199|rs3182412|rs10888734|rs11558620|rs17295088|rs17349599|rs17371636|rs17845186|rs17857996|rs56482093|rs60687281|rs10888734;dbNSFP_SIFT_pred=.;dbNSFP_aapos=224;dbNSFP_1000Gp1_AFR_AF=0.23170731707317074;dbNSFP_1000Gp1_AFR_AC=114;dbNSFP_refcodon=CGA;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=1176;dbNSFP_1000Gp1_AF=0.5384615384615384;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=ENST00000440943;dbNSFP_ESP6500_AA_AF=0.278711;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=G;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=0.5197889182058048;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=394	GT:AD:DP:GQ:PL	0/1:819,834:1653:99:17413,0,16598
chr1	52290984	rs11205896	T	G	1496.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=1.440;DB;DP=99;Dels=0.00;FS=0.000;HaplotypeScore=0.9997;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.592;QD=15.11;ReadPosRankSum=0.522;SB=-6.801e+01;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000078618|ambiguous_orf|CODING|ENST00000475715|6|1),EXON(MODIFIER|||||ENSG00000078618|processed_transcript|CODING|ENST00000473805|3|1),EXON(MODIFIER|||||ENSG00000078618|processed_transcript|CODING|ENST00000485608|6|1),SYNONYMOUS_CODING(LOW|SILENT|ggA/ggC|p.Gly205Gly/c.615A>C|747|ENSG00000078618|protein_coding|CODING|ENST00000544028|6|1),SYNONYMOUS_CODING(LOW|SILENT|ggA/ggC|p.Gly273Gly/c.819A>C|1087|ENSG00000078618|protein_coding|CODING|ENST00000539524|8|1),SYNONYMOUS_CODING(LOW|SILENT|ggA/ggC|p.Gly337Gly/c.1011A>C|1151|ENSG00000078618|protein_coding|CODING|ENST00000352171|6|1),SYNONYMOUS_CODING(LOW|SILENT|ggA/ggC|p.Gly405Gly/c.1215A>C|1219|ENSG00000078618|protein_coding|CODING|ENST00000354831|8|1)	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1526,0,1677
chr1	52306063	rs35723519	ATCT	A	10746.0	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=0.167;DB;DP=470;FS=2.473;HaplotypeScore=94.1062;MLEAC=1;MLEAF=0.500;MQ=43.13;MQ0=0;MQRankSum=6.708;QD=22.86;RPA=4,3;RU=TCT;ReadPosRankSum=-1.737;SB=-3.021e+03;STR;set=variant38;EFF=CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||gaagat/gat|p.X154Asp/c.462*>-AGA|1151|ENSG00000078618|protein_coding|CODING|ENST00000352171|2|1),CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||gaagat/gat|p.X154Asp/c.462*>-AGA|1219|ENSG00000078618|protein_coding|CODING|ENST00000354831|2|1),CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||gaagat/gat|p.X22Asp/c.66*>-AGA|1087|ENSG00000078618|protein_coding|CODING|ENST00000539524|2|1),CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||gaagat/gat|p.X22Asp/c.66*>-AGA|747|ENSG00000078618|protein_coding|CODING|ENST00000544028|2|1),EXON(MODIFIER|||||ENSG00000078618|processed_transcript|CODING|ENST00000485608|1|1),EXON(MODIFIER|||||ENSG00000078618|processed_transcript|CODING|ENST00000491410|2|1),UPSTREAM(MODIFIER||2820|||ENSG00000078618|ambiguous_orf|CODING|ENST00000475715||1),UPSTREAM(MODIFIER||3982|||ENSG00000212076|miRNA|NON_CODING|ENST00000390787||1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:252,218:470:99:10746,0,8089
chr1	52344414	rs736756	A	C	608.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=2.432;DB;DP=92;Dels=0.00;FS=0.000;HaplotypeScore=4.4156;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.449;QD=6.61;ReadPosRankSum=-0.885;SB=-6.519e-03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000078618|processed_transcript|CODING|ENST00000491410|1|1),UPSTREAM(MODIFIER||19|||ENSG00000078618|processed_transcript|CODING|ENST00000468722||1),UPSTREAM(MODIFIER||723||1087|ENSG00000078618|protein_coding|CODING|ENST00000539524||1),UTR_5_PRIME(MODIFIER||||1151|ENSG00000078618|protein_coding|CODING|ENST00000352171|1|1),UTR_5_PRIME(MODIFIER||||1219|ENSG00000078618|protein_coding|CODING|ENST00000354831|1|1),UTR_5_PRIME(MODIFIER||||747|ENSG00000078618|protein_coding|CODING|ENST00000544028|1|1)	GT:AD:DP:GQ:PL	0/1:66,25:92:99:638,0,2019
chr1	53676448	rs1799821	G	A	14139.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=4.418;DB;DP=1353;Dels=0.00;FS=0.193;HaplotypeScore=9.3000;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-2.049;QD=10.45;ReadPosRankSum=-1.813;SB=-1.201e+04;set=variant37;EFF=DOWNSTREAM(MODIFIER||3323||160|ENSG00000162384|protein_coding|CODING|ENST00000294360||1),DOWNSTREAM(MODIFIER||3361|||ENSG00000162384|processed_transcript|CODING|ENST00000483739||1),DOWNSTREAM(MODIFIER||3599|||ENSG00000162384|processed_transcript|CODING|ENST00000470385||1),DOWNSTREAM(MODIFIER||3698|||ENSG00000162384|processed_transcript|CODING|ENST00000478839||1),DOWNSTREAM(MODIFIER||3843||137|ENSG00000162384|protein_coding|CODING|ENST00000371480||1),INTRON(MODIFIER|||||ENSG00000236723|antisense|NON_CODING|ENST00000452466|1|1),NEXT_PROT[topological_domain:Mitochondrial_matrix](LOW||||658|ENSG00000157184|protein_coding|CODING|ENST00000371486|4|1),NEXT_PROT[topological_domain:Mitochondrial_matrix](LOW||||658|ENSG00000157184|protein_coding|CODING|ENST00000371486|5|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtc/Atc|p.Val368Ile/c.1102G>A|658|ENSG00000157184|protein_coding|CODING|ENST00000371486|4|1);dbNSFP_FATHMM_score_converted=0.4897273066865895;dbNSFP_GERP++_RS=-0.261;dbNSFP_1000Gp1_ASN_AF=0.7325174825174825;dbNSFP_Ensembl_geneid=ENSG00000157184;dbNSFP_FATHMM_score=-2.47;dbNSFP_1000Gp1_ASN_AC=419;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=10.7366;dbNSFP_FATHMM_pred=D;dbNSFP_MutationTaster_score=0.998853;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=-0.36;dbNSFP_1000Gp1_AMR_AC=140;dbNSFP_ESP6500_EA_AF=0.541628;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.4954:0.0:0.5046:0.0;dbNSFP_LRT_Omega=0.368277;dbNSFP_1000Gp1_AMR_AF=0.3867403314917127;dbNSFP_GERP++_NR=5.72;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.005156;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.997422;dbNSFP_phyloP=0.038000;dbNSFP_genename=CPT2;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.0;dbNSFP_Uniprot_acc=P23786;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.011;dbNSFP_UniSNP_ids=rs1799821|rs3737985|rs12722740|rs17369304|rs17848484|rs17849928|rs17857679|rs58369811|rs1799821;dbNSFP_SIFT_pred=T;dbNSFP_aapos=368;dbNSFP_1000Gp1_AFR_AF=0.3008130081300813;dbNSFP_1000Gp1_AFR_AC=148;dbNSFP_refcodon=GTC;dbNSFP_Uniprot_aapos=368;dbNSFP_1000Gp1_AC=1092;dbNSFP_1000Gp1_AF=0.5;dbNSFP_SIFT_score=1.000000;dbNSFP_Uniprot_id=CPT2_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000371486;dbNSFP_ESP6500_AA_AF=0.290059;dbNSFP_Polyphen2_HVAR_score=0.004;dbNSFP_Ancestral_allele=G;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.5079155672823219;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=0.4500868055555555;dbNSFP_1000Gp1_EUR_AC=385	GT:AD:DP:GQ:PL	0/1:636,717:1353:99:14139,0,12304
chr1	53679229	rs1799822	A	G	3054.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=7.867;DB;DP=213;Dels=0.00;FS=0.000;HaplotypeScore=0.9665;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.438;QD=14.34;ReadPosRankSum=-3.433;SB=-6.519e-03;set=variant37;EFF=DOWNSTREAM(MODIFIER||1062||137|ENSG00000162384|protein_coding|CODING|ENST00000371480||1),DOWNSTREAM(MODIFIER||3229|||ENSG00000162384|processed_transcript|CODING|ENST00000489755||1),DOWNSTREAM(MODIFIER||542||160|ENSG00000162384|protein_coding|CODING|ENST00000294360||1),DOWNSTREAM(MODIFIER||580|||ENSG00000162384|processed_transcript|CODING|ENST00000483739||1),DOWNSTREAM(MODIFIER||818|||ENSG00000162384|processed_transcript|CODING|ENST00000470385||1),DOWNSTREAM(MODIFIER||917|||ENSG00000162384|processed_transcript|CODING|ENST00000478839||1),EXON(MODIFIER|||||ENSG00000236723|antisense|NON_CODING|ENST00000452466|1|1),NEXT_PROT[topological_domain:Mitochondrial_matrix](LOW||||658|ENSG00000157184|protein_coding|CODING|ENST00000371486|4|1),NEXT_PROT[topological_domain:Mitochondrial_matrix](LOW||||658|ENSG00000157184|protein_coding|CODING|ENST00000371486|5|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atg/Gtg|p.Met647Val/c.1939A>G|658|ENSG00000157184|protein_coding|CODING|ENST00000371486|5|1);dbNSFP_FATHMM_score_converted=0.4953305939484498;dbNSFP_GERP++_RS=5.9;dbNSFP_1000Gp1_ASN_AF=0.0944055944055944;dbNSFP_Ensembl_geneid=ENSG00000157184;dbNSFP_FATHMM_score=-2.62;dbNSFP_1000Gp1_ASN_AC=54;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=16.3322;dbNSFP_FATHMM_pred=D;dbNSFP_MutationTaster_score=0.00218418;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=0.955;dbNSFP_1000Gp1_AMR_AC=68;dbNSFP_ESP6500_EA_AF=0.225233;dbNSFP_LRT_pred=D;dbNSFP_29way_pi=1.0:0.0:0.0:0.0;dbNSFP_LRT_Omega=0.189419;dbNSFP_1000Gp1_AMR_AF=0.1878453038674033;dbNSFP_GERP++_NR=5.9;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=L;dbNSFP_LRT_score=0.000031;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.9999845;dbNSFP_phyloP=2.251000;dbNSFP_genename=CPT2;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.87;dbNSFP_Uniprot_acc=P23786;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.002;dbNSFP_UniSNP_ids=rs1799822|rs17377870|rs17848486|rs17849929|rs17857680|rs52797123|rs1799822;dbNSFP_SIFT_pred=T;dbNSFP_aapos=647;dbNSFP_1000Gp1_AFR_AF=0.028455284552845527;dbNSFP_1000Gp1_AFR_AC=14;dbNSFP_refcodon=ATG;dbNSFP_Uniprot_aapos=647;dbNSFP_1000Gp1_AC=280;dbNSFP_1000Gp1_AF=0.1282051282051282;dbNSFP_SIFT_score=0.130000;dbNSFP_Uniprot_id=CPT2_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000371486;dbNSFP_ESP6500_AA_AF=0.054471;dbNSFP_Polyphen2_HVAR_score=0.009;dbNSFP_Ancestral_allele=A;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.18997361477572558;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=0.5642361111111112;dbNSFP_1000Gp1_EUR_AC=144	GT:AD:DP:GQ:PL	0/1:120,93:213:99:3084,0,4185
chr1	54681920	rs13571	G	C	8424.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-4.184;DB;DP=673;Dels=0.00;FS=1.219;HaplotypeScore=21.2207;MLEAC=1;MLEAF=0.500;MQ=43.52;MQ0=0;MQRankSum=0.361;QD=12.52;ReadPosRankSum=0.779;SB=-6.826e+03;set=variant37;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tCt|p.Cys150Ser/c.449G>C|263|ENSG00000116221|protein_coding|CODING|ENST00000398219|3|1|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tCt|p.Cys235Ser/c.704G>C|292|ENSG00000116221|protein_coding|CODING|ENST00000336230|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGt/tCt|p.Cys366Ser/c.1097G>C|423|ENSG00000116221|protein_coding|CODING|ENST00000360840|6|1);dbNSFP_FATHMM_score_converted=0.3040717220769519,.;dbNSFP_GERP++_RS=5.38;dbNSFP_1000Gp1_ASN_AF=0.43356643356643354;dbNSFP_Ensembl_geneid=ENSG00000116221;dbNSFP_FATHMM_score=2.5,.;dbNSFP_1000Gp1_ASN_AC=248;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=16.3029;dbNSFP_FATHMM_pred=T,.;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=-2.28;dbNSFP_1000Gp1_AMR_AC=235;dbNSFP_ESP6500_EA_AF=0.782558;dbNSFP_LRT_pred=N,.;dbNSFP_29way_pi=0.0:0.8674:0.1326:0.0;dbNSFP_LRT_Omega=0.292058,.;dbNSFP_1000Gp1_AMR_AF=0.649171270718232;dbNSFP_GERP++_NR=5.38;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.001646,.;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.999177,.;dbNSFP_phyloP=1.270000;dbNSFP_genename=MRPL37;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.0,.;dbNSFP_Uniprot_acc=A6NHR2|E9PB99|Q9BZE1,.;dbNSFP_codonpos=2,1;dbNSFP_Polyphen2_HDIV_score=0.0|0.001|0.0,.;dbNSFP_UniSNP_ids=rs13571|rs1768479|rs3182527|rs17110127|rs52818360|rs57460603|rs13571;dbNSFP_SIFT_pred=T,.;dbNSFP_aapos=366|303|235,151;dbNSFP_1000Gp1_AFR_AF=0.5873983739837398;dbNSFP_1000Gp1_AFR_AC=289;dbNSFP_refcodon=TGT,GTA;dbNSFP_Uniprot_aapos=235|303|366,.;dbNSFP_1000Gp1_AC=1369;dbNSFP_1000Gp1_AF=0.6268315018315018;dbNSFP_SIFT_score=1.000000,.;dbNSFP_Uniprot_id=.|.|RM37_HUMAN,.;dbNSFP_Ensembl_transcriptid=ENST00000360840|ENST00000329505|ENST00000336230,ENST00000398219;dbNSFP_ESP6500_AA_AF=0.656832;dbNSFP_Polyphen2_HVAR_score=0.0|0.0|0.0,.;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=B|B|B,.;dbNSFP_1000Gp1_EUR_AF=0.787598944591029;dbNSFP_Polyphen2_HVAR_pred=B|B|B,.;dbNSFP_MutationAssessor_score_converted=0.2834201388888889;dbNSFP_1000Gp1_EUR_AC=597	GT:AD:DP:GQ:PL	0/1:284,389:673:99:8424,0,6312
chr1	54683856	rs15921	C	G	9632.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=4.356;DB;DP=978;Dels=0.00;FS=0.466;HaplotypeScore=10.5088;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-1.741;QD=9.85;ReadPosRankSum=-0.126;SB=-8.222e+03;set=variant37;EFF=INTRON(MODIFIER||||263|ENSG00000116221|protein_coding|CODING|ENST00000398219|3|1),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggG|p.Gly271Gly/c.813C>G|292|ENSG00000116221|protein_coding|CODING|ENST00000336230|5|1),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggG|p.Gly402Gly/c.1206C>G|423|ENSG00000116221|protein_coding|CODING|ENST00000360840|7|1)	GT:AD:DP:GQ:PL	0/1:487,490:978:99:9632,0,9545
chr1	59004979	rs902925	C	T	20988.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=849;Dels=0.00;FS=0.000;HaplotypeScore=11.8246;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=24.72;SB=-1.493e+04;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000162600|processed_transcript|CODING|ENST00000482274|2|1),INTRON(MODIFIER|||||ENSG00000162600|processed_transcript|CODING|ENST00000467063|1|1),INTRON(MODIFIER|||||ENSG00000162600|processed_transcript|CODING|ENST00000469854|1|1),INTRON(MODIFIER|||||ENSG00000173406|processed_transcript|CODING|ENST00000485760|1|1),UPSTREAM(MODIFIER||489||327|ENSG00000162600|protein_coding|CODING|ENST00000421528||1),UTR_5_PRIME(MODIFIER||||182|ENSG00000162600|protein_coding|CODING|ENST00000453710|4|1),UTR_5_PRIME(MODIFIER||||251|ENSG00000162600|protein_coding|CODING|ENST00000426139|2|1),UTR_5_PRIME(MODIFIER||||254|ENSG00000162600|protein_coding|CODING|ENST00000419242|2|1),UTR_5_PRIME(MODIFIER||||324|ENSG00000162600|protein_coding|CODING|ENST00000456980|2|1),UTR_5_PRIME(MODIFIER||||486|ENSG00000162600|protein_coding|CODING|ENST00000358603|2|1),UTR_5_PRIME(MODIFIER||||524|ENSG00000162600|protein_coding|CODING|ENST00000371226|2|1)	GT:AD:DP:GQ:PL	1/1:0,848:848:99:20988,1448,0
chr1	85786957	rs233114	T	G	138.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-1.495;DB;DP=7;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.922;QD=19.72;ReadPosRankSum=0.198;SB=-6.519e-03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000153904|processed_transcript|CODING|ENST00000483110|7|1),INTRON(MODIFIER||||285|ENSG00000153904|protein_coding|CODING|ENST00000539042|6|1),INTRON(MODIFIER|||||ENSG00000223653|processed_transcript|NON_CODING|ENST00000426125|1|1),INTRON(MODIFIER|||||ENSG00000223653|processed_transcript|NON_CODING|ENST00000427819|2|1),UTR_3_PRIME(MODIFIER||||182|ENSG00000153904|protein_coding|CODING|ENST00000535924|7|1),UTR_3_PRIME(MODIFIER||||185|ENSG00000153904|protein_coding|CODING|ENST00000542148|6|1),UTR_3_PRIME(MODIFIER||||192|ENSG00000153904|protein_coding|CODING|ENST00000426972|6|1),UTR_3_PRIME(MODIFIER||||285|ENSG00000153904|protein_coding|CODING|ENST00000284031|6|1)	GT:AD:DP:GQ:PL	0/1:2,5:7:63:168,0,63
chr1	85786977	rs233115	G	A	144.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-0.198;DB;DP=7;Dels=0.00;FS=0.000;HaplotypeScore=0.9159;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.922;QD=20.57;ReadPosRankSum=0.198;SB=-6.519e-03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000153904|processed_transcript|CODING|ENST00000483110|7|1),INTRON(MODIFIER||||285|ENSG00000153904|protein_coding|CODING|ENST00000539042|6|1),INTRON(MODIFIER|||||ENSG00000223653|processed_transcript|NON_CODING|ENST00000426125|1|1),INTRON(MODIFIER|||||ENSG00000223653|processed_transcript|NON_CODING|ENST00000427819|2|1),UTR_3_PRIME(MODIFIER||||182|ENSG00000153904|protein_coding|CODING|ENST00000535924|7|1),UTR_3_PRIME(MODIFIER||||185|ENSG00000153904|protein_coding|CODING|ENST00000542148|6|1),UTR_3_PRIME(MODIFIER||||192|ENSG00000153904|protein_coding|CODING|ENST00000426972|6|1),UTR_3_PRIME(MODIFIER||||285|ENSG00000153904|protein_coding|CODING|ENST00000284031|6|1)	GT:AD:DP:GQ:PL	0/1:2,5:7:59:174,0,59
chr1	85787114	rs233116	A	T	9811.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=431;Dels=0.00;FS=0.000;HaplotypeScore=0.9734;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=22.76;SB=-8.489e+03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000153904|processed_transcript|CODING|ENST00000483110|7|1),INTRON(MODIFIER|||||ENSG00000223653|processed_transcript|NON_CODING|ENST00000426125|1|1),INTRON(MODIFIER|||||ENSG00000223653|processed_transcript|NON_CODING|ENST00000427819|2|1),UTR_3_PRIME(MODIFIER||||182|ENSG00000153904|protein_coding|CODING|ENST00000535924|7|1),UTR_3_PRIME(MODIFIER||||185|ENSG00000153904|protein_coding|CODING|ENST00000542148|6|1),UTR_3_PRIME(MODIFIER||||192|ENSG00000153904|protein_coding|CODING|ENST00000426972|6|1),UTR_3_PRIME(MODIFIER||||285|ENSG00000153904|protein_coding|CODING|ENST00000284031|6|1),UTR_3_PRIME(MODIFIER||||285|ENSG00000153904|protein_coding|CODING|ENST00000539042|6|1)	GT:AD:DP:GQ:PL	1/1:0,431:431:99:9811,668,0
chr1	85787118	rs3087894	G	C	3877.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=0.518;DB;DP=430;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.668;QD=9.02;ReadPosRankSum=-3.691;SB=-3.225e+03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000153904|processed_transcript|CODING|ENST00000483110|7|1),INTRON(MODIFIER|||||ENSG00000223653|processed_transcript|NON_CODING|ENST00000426125|1|1),INTRON(MODIFIER|||||ENSG00000223653|processed_transcript|NON_CODING|ENST00000427819|2|1),UTR_3_PRIME(MODIFIER||||182|ENSG00000153904|protein_coding|CODING|ENST00000535924|7|1),UTR_3_PRIME(MODIFIER||||185|ENSG00000153904|protein_coding|CODING|ENST00000542148|6|1),UTR_3_PRIME(MODIFIER||||192|ENSG00000153904|protein_coding|CODING|ENST00000426972|6|1),UTR_3_PRIME(MODIFIER||||285|ENSG00000153904|protein_coding|CODING|ENST00000284031|6|1),UTR_3_PRIME(MODIFIER||||285|ENSG00000153904|protein_coding|CODING|ENST00000539042|6|1)	GT:AD:DP:GQ:PL	0/1:230,200:430:99:3877,0,4606
chr1	85816134	rs10158674	T	C	14292.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-7.004;DB;DP=1221;Dels=0.00;FS=0.203;HaplotypeScore=7.6877;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-1.565;QD=11.71;ReadPosRankSum=-0.431;SB=-9.575e+03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000153904|processed_transcript|CODING|ENST00000483110|5|1),INTRON(MODIFIER|||||ENSG00000223653|processed_transcript|NON_CODING|ENST00000426125|1|1),INTRON(MODIFIER|||||ENSG00000223653|processed_transcript|NON_CODING|ENST00000427819|2|1),NEXT_PROT[beta_strand](LOW||||285|ENSG00000153904|protein_coding|CODING|ENST00000539042|4|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|p.Ala187Ala/c.561A>G|285|ENSG00000153904|protein_coding|CODING|ENST00000284031|4|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|p.Ala187Ala/c.561A>G|285|ENSG00000153904|protein_coding|CODING|ENST00000539042|4|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|p.Ala84Ala/c.252A>G|182|ENSG00000153904|protein_coding|CODING|ENST00000535924|5|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|p.Ala87Ala/c.261A>G|185|ENSG00000153904|protein_coding|CODING|ENST00000542148|4|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|p.Ala94Ala/c.282A>G|192|ENSG00000153904|protein_coding|CODING|ENST00000426972|4|1)	GT:AD:DP:GQ:PL	0/1:617,604:1221:99:14292,0,14941
chr1	89426902	rs3738055	G	A	9172.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=8.909;DB;DP=724;Dels=0.00;FS=0.000;HaplotypeScore=10.7019;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.746;QD=12.67;ReadPosRankSum=3.501;SB=-6.128e+03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000137944|processed_transcript|CODING|ENST00000446900|8|1),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|p.Ser211Ser/c.633C>T|420|ENSG00000137944|protein_coding|CODING|ENST00000370491|7|1),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|p.Ser245Ser/c.735C>T|261|ENSG00000137944|protein_coding|CODING|ENST00000370486|9|1|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|agC/agT|p.Ser245Ser/c.735C>T|454|ENSG00000137944|protein_coding|CODING|ENST00000260508|8|1),UTR_3_PRIME(MODIFIER||||167|ENSG00000137944|protein_coding|CODING|ENST00000370485|9|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:327,397:724:99:9172,0,7550
chr1	94930345	rs16946	G	A	9894.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=3.225;DB;DP=1133;Dels=0.00;FS=0.000;HaplotypeScore=16.8162;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=1.453;QD=8.73;ReadPosRankSum=0.063;SB=-8.967e+03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000117528|processed_transcript|CODING|ENST00000468860|4|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||236|ENSG00000117528|protein_coding|CODING|ENST00000315713|1|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||236|ENSG00000117528|protein_coding|CODING|ENST00000315713|2|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||236|ENSG00000117528|protein_coding|CODING|ENST00000315713|3|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||236|ENSG00000117528|protein_coding|CODING|ENST00000315713|4|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||236|ENSG00000117528|protein_coding|CODING|ENST00000315713|5|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||236|ENSG00000117528|protein_coding|CODING|ENST00000315713|6|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||236|ENSG00000117528|protein_coding|CODING|ENST00000315713|7|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||549|ENSG00000117528|protein_coding|CODING|ENST00000394233|1|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||549|ENSG00000117528|protein_coding|CODING|ENST00000394233|2|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||549|ENSG00000117528|protein_coding|CODING|ENST00000394233|3|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||549|ENSG00000117528|protein_coding|CODING|ENST00000394233|4|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||549|ENSG00000117528|protein_coding|CODING|ENST00000394233|5|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||549|ENSG00000117528|protein_coding|CODING|ENST00000394233|6|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||549|ENSG00000117528|protein_coding|CODING|ENST00000394233|7|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||659|ENSG00000117528|protein_coding|CODING|ENST00000370214|1|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||659|ENSG00000117528|protein_coding|CODING|ENST00000370214|2|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||659|ENSG00000117528|protein_coding|CODING|ENST00000370214|3|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||659|ENSG00000117528|protein_coding|CODING|ENST00000370214|4|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||659|ENSG00000117528|protein_coding|CODING|ENST00000370214|5|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||659|ENSG00000117528|protein_coding|CODING|ENST00000370214|6|1),NEXT_PROT[interacting_region:Interaction_with_PEX19](LOW||||659|ENSG00000117528|protein_coding|CODING|ENST00000370214|7|1),NEXT_PROT[region_of_interest:Targeting_to_peroxisomes](LOW||||236|ENSG00000117528|protein_coding|CODING|ENST00000315713|1|1),NEXT_PROT[region_of_interest:Targeting_to_peroxisomes](LOW||||236|ENSG00000117528|protein_coding|CODING|ENST00000315713|2|1),NEXT_PROT[region_of_interest:Targeting_to_peroxisomes](LOW||||236|ENSG00000117528|protein_coding|CODING|ENST00000315713|3|1),NEXT_PROT[region_of_interest:Targeting_to_peroxisomes](LOW||||236|ENSG00000117528|protein_coding|CODING|ENST00000315713|4|1),NEXT_PROT[region_of_interest:Targeting_to_peroxisomes](LOW||||236|ENSG00000117528|protein_coding|CODING|ENST00000315713|5|1),NEXT_PROT[region_of_interest:Targeting_to_peroxisomes](LOW||||549|ENSG00000117528|protein_coding|CODING|ENST00000394233|1|1),NEXT_PROT[region_of_interest:Targeting_to_peroxisomes](LOW||||549|ENSG00000117528|protein_coding|CODING|ENST00000394233|2|1),NEXT_PROT[region_of_interest:Targeting_to_peroxisomes](LOW||||549|ENSG00000117528|protein_coding|CODING|ENST00000394233|3|1),NEXT_PROT[region_of_interest:Targeting_to_peroxisomes](LOW||||549|ENSG00000117528|protein_coding|CODING|ENST00000394233|4|1),NEXT_PROT[region_of_interest:Targeting_to_peroxisomes](LOW||||549|ENSG00000117528|protein_coding|CODING|ENST00000394233|5|1),NEXT_PROT[region_of_interest:Targeting_to_peroxisomes](LOW||||659|ENSG00000117528|protein_coding|CODING|ENST00000370214|1|1),NEXT_PROT[region_of_interest:Targeting_to_peroxisomes](LOW||||659|ENSG00000117528|protein_coding|CODING|ENST00000370214|2|1),NEXT_PROT[region_of_interest:Targeting_to_peroxisomes](LOW||||659|ENSG00000117528|protein_coding|CODING|ENST00000370214|3|1),NEXT_PROT[region_of_interest:Targeting_to_peroxisomes](LOW||||659|ENSG00000117528|protein_coding|CODING|ENST00000370214|4|1),NEXT_PROT[region_of_interest:Targeting_to_peroxisomes](LOW||||659|ENSG00000117528|protein_coding|CODING|ENST00000370214|5|1),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|p.Lys54Lys/c.162G>A|236|ENSG00000117528|protein_coding|CODING|ENST00000315713|3|1),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|p.Lys54Lys/c.162G>A|549|ENSG00000117528|protein_coding|CODING|ENST00000394233|3|1),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|p.Lys54Lys/c.162G>A|659|ENSG00000117528|protein_coding|CODING|ENST00000370214|3|1),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|p.Lys78Lys/c.234G>A|683|ENSG00000117528|protein_coding|CODING|ENST00000454898|4|1),UTR_5_PRIME(MODIFIER||||586|ENSG00000117528|protein_coding|CODING|ENST00000536817|2|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:613,520:1133:99:9894,0,12000
chr1	100672060	rs12021720	T	C	32767.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=1695;Dels=0.00;FS=0.000;HaplotypeScore=4.8463;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=19.33;SB=-3.277e+04;set=variant37;EFF=DOWNSTREAM(MODIFIER||4039||320|ENSG00000137992|protein_coding|CODING|ENST00000370131||1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agt/Ggt|p.Ser384Gly/c.1150A>G|482|ENSG00000137992|protein_coding|CODING|ENST00000370132|9|1);dbNSFP_FATHMM_score_converted=0.3530070974971984;dbNSFP_GERP++_RS=4.4;dbNSFP_1000Gp1_ASN_AF=0.9667832167832168;dbNSFP_Ensembl_geneid=ENSG00000137992;dbNSFP_FATHMM_score=1.19;dbNSFP_1000Gp1_ASN_AC=553;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=9.6265;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=0.999156;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=341;dbNSFP_ESP6500_EA_AF=0.902442;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.0:0.729:0.0:0.271;dbNSFP_LRT_Omega=0.147709;dbNSFP_1000Gp1_AMR_AF=0.9419889502762431;dbNSFP_GERP++_NR=5.54;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=0.000010;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.999995;dbNSFP_phyloP=1.495000;dbNSFP_genename=DBT;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.0;dbNSFP_Uniprot_acc=F5H1F9;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.0;dbNSFP_UniSNP_ids=rs12021720|rs17856511|rs52821474|rs58080948|rs12021720;dbNSFP_SIFT_pred=T;dbNSFP_aapos=203|384;dbNSFP_1000Gp1_AFR_AF=0.7764227642276422;dbNSFP_1000Gp1_AFR_AC=382;dbNSFP_refcodon=AGT;dbNSFP_Uniprot_aapos=203;dbNSFP_1000Gp1_AC=1963;dbNSFP_1000Gp1_AF=0.8988095238095238;dbNSFP_SIFT_score=1.000000;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=ENST00000543138|ENST00000370132;dbNSFP_ESP6500_AA_AF=0.774852;dbNSFP_Polyphen2_HVAR_score=0.0;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.9063324538258575;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=687	GT:AD:DP:GQ:PL	1/1:0,1693:1693:99:32767,2715,0
chr1	110950439	rs6674775	C	T	19450.01	PASS	AC=2;AF=1.00;AN=2;BaseQRankSum=2.991;DB;DP=741;Dels=0.00;FS=12.215;HaplotypeScore=7.6576;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;MQRankSum=-0.310;QD=26.25;ReadPosRankSum=2.649;SB=-1.025e+04;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000224699|antisense|NON_CODING|ENST00000457535|1|1),INTRON(MODIFIER|||||ENSG00000224699|antisense|NON_CODING|ENST00000590413|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGc/aAc|p.Ser17Asn/c.50G>A|173|ENSG00000134248|protein_coding|CODING|ENST00000256644|1|1),UPSTREAM(MODIFIER||109||91|ENSG00000134248|protein_coding|CODING|ENST00000602318||1),UPSTREAM(MODIFIER||1153|||ENSG00000224699|antisense|NON_CODING|ENST00000590826||1),UPSTREAM(MODIFIER||123|||ENSG00000134248|retained_intron|CODING|ENST00000464240||1),UPSTREAM(MODIFIER||1392||79|ENSG00000134248|protein_coding|CODING|ENST00000602858||1),UPSTREAM(MODIFIER||146||90|ENSG00000134248|protein_coding|CODING|ENST00000474861||1),UPSTREAM(MODIFIER||149||90|ENSG00000134248|protein_coding|CODING|ENST00000483260||1),UPSTREAM(MODIFIER||153|||ENSG00000134248|retained_intron|CODING|ENST00000531779||1),UPSTREAM(MODIFIER||23|||ENSG00000224699|antisense|NON_CODING|ENST00000587691||1),UPSTREAM(MODIFIER||4360|||ENSG00000224699|antisense|NON_CODING|ENST00000585330||1),UPSTREAM(MODIFIER||8|||ENSG00000224699|antisense|NON_CODING|ENST00000598454||1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=-4.97;dbNSFP_1000Gp1_ASN_AF=0.2465034965034965;dbNSFP_Ensembl_geneid=ENSG00000134248;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=141;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=1.9189;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=146;dbNSFP_ESP6500_EA_AF=0.493605;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=0.1984:0.2224:0.4274:0.1518;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=0.40331491712707185;dbNSFP_GERP++_NR=2.48;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=-1.854000;dbNSFP_genename=HBXIP;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=rs6674775|rs17627162|rs59054161|rs6674775;dbNSFP_SIFT_pred=.;dbNSFP_aapos=17;dbNSFP_1000Gp1_AFR_AF=0.3516260162601626;dbNSFP_1000Gp1_AFR_AC=173;dbNSFP_refcodon=AGC;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=813;dbNSFP_1000Gp1_AF=0.37225274725274726;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=ENST00000256644;dbNSFP_ESP6500_AA_AF=0.348162;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=0.4656992084432718;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=353	GT:AD:DP:GQ:PL	1/1:3,736:741:99:19450,1354,0
chr1	119923724	rs2275607	T	C	28318.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=866;Dels=0.00;FS=0.000;HaplotypeScore=9.4213;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=32.70;SB=-8.503e+03;set=variant37;EFF=NEXT_PROT[domain:FMN_hydroxy_acid_dehydrogenase](LOW||||351|ENSG00000116882|protein_coding|CODING|ENST00000325945|2|1),NEXT_PROT[domain:FMN_hydroxy_acid_dehydrogenase](LOW||||351|ENSG00000116882|protein_coding|CODING|ENST00000325945|3|1),NEXT_PROT[domain:FMN_hydroxy_acid_dehydrogenase](LOW||||351|ENSG00000116882|protein_coding|CODING|ENST00000325945|4|1),NEXT_PROT[domain:FMN_hydroxy_acid_dehydrogenase](LOW||||351|ENSG00000116882|protein_coding|CODING|ENST00000325945|5|1),NEXT_PROT[domain:FMN_hydroxy_acid_dehydrogenase](LOW||||351|ENSG00000116882|protein_coding|CODING|ENST00000325945|6|1),NEXT_PROT[domain:FMN_hydroxy_acid_dehydrogenase](LOW||||351|ENSG00000116882|protein_coding|CODING|ENST00000325945|7|1),NEXT_PROT[domain:FMN_hydroxy_acid_dehydrogenase](LOW||||351|ENSG00000116882|protein_coding|CODING|ENST00000325945|8|1),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|p.Leu19Leu/c.55T>C|364|ENSG00000116882|protein_coding|CODING|ENST00000361035|3|1),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|p.Leu6Leu/c.16T>C|185|ENSG00000116882|protein_coding|CODING|ENST00000457318|2|1|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|p.Leu6Leu/c.16T>C|351|ENSG00000116882|protein_coding|CODING|ENST00000325945|2|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	1/1:0,866:866:99:28318,1987,0
chr1	120057158	rs6203	C	T	32767.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=1648;Dels=0.00;FS=0.000;HaplotypeScore=19.7616;MLEAC=2;MLEAF=1.00;MQ=19.05;MQ0=0;QD=19.88;SB=-1.268e+04;set=variant37;EFF=DOWNSTREAM(MODIFIER||2583|||ENSG00000203857|retained_intron|CODING|ENST00000492140||1),DOWNSTREAM(MODIFIER||2933||80|ENSG00000203857|protein_coding|CODING|ENST00000531340||1),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|p.Leu338Leu/c.1012C>T|373|ENSG00000203857|protein_coding|CODING|ENST00000369413|4|1),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|p.Leu338Leu/c.1012C>T|373|ENSG00000203857|protein_coding|CODING|ENST00000528909|3|1),SYNONYMOUS_CODING(LOW|SILENT|Ctg/Ttg|p.Leu340Leu/c.1018C>T|375|ENSG00000203857|protein_coding|CODING|ENST00000235547|4|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	1/1:0,1648:1648:99:32767,3283,0
chr1	120057246	rs1047303	C	A	24015.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=988;Dels=0.00;FS=0.000;HaplotypeScore=14.1175;MLEAC=2;MLEAF=1.00;MQ=19.77;MQ0=0;QD=24.31;SB=-2.301e+01;set=variant37;EFF=DOWNSTREAM(MODIFIER||2671|||ENSG00000203857|retained_intron|CODING|ENST00000492140||1),DOWNSTREAM(MODIFIER||3021||80|ENSG00000203857|protein_coding|CODING|ENST00000531340||1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aAc|p.Thr367Asn/c.1100C>A|373|ENSG00000203857|protein_coding|CODING|ENST00000369413|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aAc|p.Thr367Asn/c.1100C>A|373|ENSG00000203857|protein_coding|CODING|ENST00000528909|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCc/aAc|p.Thr369Asn/c.1106C>A|375|ENSG00000203857|protein_coding|CODING|ENST00000235547|4|1);dbNSFP_FATHMM_score_converted=0.4191258871871498;dbNSFP_GERP++_RS=-0.043;dbNSFP_1000Gp1_ASN_AF=0.9125874125874126;dbNSFP_Ensembl_geneid=ENSG00000203857;dbNSFP_FATHMM_score=-0.58;dbNSFP_1000Gp1_ASN_AC=522;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=4.8389;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=2.44;dbNSFP_1000Gp1_AMR_AC=275;dbNSFP_ESP6500_EA_AF=0.681712;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.4715:0.4173:0.0:0.1112;dbNSFP_LRT_Omega=1.471970;dbNSFP_1000Gp1_AMR_AF=0.7596685082872928;dbNSFP_GERP++_NR=3.26;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=M;dbNSFP_LRT_score=0.233454;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.116727;dbNSFP_phyloP=0.216000;dbNSFP_genename=HSD3B1;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.63;dbNSFP_Uniprot_acc=Q5TDG2|P14060;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=0.01|0.021;dbNSFP_UniSNP_ids=rs1047303|rs3175786|rs17845979|rs17858961|rs57103073|rs1047303;dbNSFP_SIFT_pred=T;dbNSFP_aapos=367|369|367;dbNSFP_1000Gp1_AFR_AF=0.9207317073170732;dbNSFP_1000Gp1_AFR_AC=453;dbNSFP_refcodon=ACC;dbNSFP_Uniprot_aapos=369|367;dbNSFP_1000Gp1_AC=1755;dbNSFP_1000Gp1_AF=0.8035714285714286;dbNSFP_SIFT_score=0.370000;dbNSFP_Uniprot_id=.|3BHS1_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000369413|ENST00000235547|ENST00000528909;dbNSFP_ESP6500_AA_AF=0.88079;dbNSFP_Polyphen2_HVAR_score=0.022|0.025;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=B|B;dbNSFP_1000Gp1_EUR_AF=0.6662269129287599;dbNSFP_Polyphen2_HVAR_pred=B|B;dbNSFP_MutationAssessor_score_converted=0.693142361111111;dbNSFP_1000Gp1_EUR_AC=505	GT:AD:DP:GQ:PL	1/1:0,986:988:99:24015,2951,0
chr1	147119273	rs1344	G	A	18860.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=841;Dels=0.00;FS=0.000;HaplotypeScore=3.8452;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=22.43;SB=-1.618e+04;set=variant37;EFF=DOWNSTREAM(MODIFIER||2347|||ENSG00000162836|processed_transcript|CODING|ENST00000487562||1),EXON(MODIFIER|||||ENSG00000162836|processed_transcript|CODING|ENST00000460583|3|1),NEXT_PROT[helix](LOW||||428|ENSG00000162836|protein_coding|CODING|ENST00000369238|10|1),SYNONYMOUS_CODING(LOW|SILENT|caC/caT|p.His413His/c.1239C>T|428|ENSG00000162836|protein_coding|CODING|ENST00000369238|10|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	1/1:0,841:841:99:18860,1270,0
chr1	147121977	rs6593795	C	T	20360.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=726;Dels=0.00;FS=0.000;HaplotypeScore=0.9789;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=28.04;SB=-1.031e+04;set=variant37;EFF=DOWNSTREAM(MODIFIER||2438||271|ENSG00000162836|protein_coding|CODING|ENST00000392988||1),EXON(MODIFIER|||||ENSG00000162836|processed_transcript|CODING|ENST00000460583|1|1),EXON(MODIFIER|||||ENSG00000162836|processed_transcript|CODING|ENST00000487562|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|p.Val316Met/c.946G>A|428|ENSG00000162836|protein_coding|CODING|ENST00000369238|8|1);dbNSFP_FATHMM_score_converted=0.34030631303698167;dbNSFP_GERP++_RS=0.112;dbNSFP_1000Gp1_ASN_AF=1.0;dbNSFP_Ensembl_geneid=ENSG00000162836;dbNSFP_FATHMM_score=1.53;dbNSFP_1000Gp1_ASN_AC=572;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=6.6814;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=1.21;dbNSFP_1000Gp1_AMR_AC=361;dbNSFP_ESP6500_EA_AF=0.999767;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.1175:0.6029:0.0:0.2796;dbNSFP_LRT_Omega=0.852523;dbNSFP_1000Gp1_AMR_AF=0.9972375690607734;dbNSFP_GERP++_NR=5.4;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=L;dbNSFP_LRT_score=0.641134;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.679433;dbNSFP_phyloP=-0.171000;dbNSFP_genename=ACP6;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.81;dbNSFP_Uniprot_acc=Q9NPH0;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.588;dbNSFP_UniSNP_ids=rs6593795|rs17856320|rs17857019|rs52795241|rs57287560|rs6593795;dbNSFP_SIFT_pred=T;dbNSFP_aapos=316;dbNSFP_1000Gp1_AFR_AF=0.9471544715447154;dbNSFP_1000Gp1_AFR_AC=466;dbNSFP_refcodon=GTG;dbNSFP_Uniprot_aapos=316;dbNSFP_1000Gp1_AC=2157;dbNSFP_1000Gp1_AF=0.9876373626373627;dbNSFP_SIFT_score=0.190000;dbNSFP_Uniprot_id=PPA6_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000369238;dbNSFP_ESP6500_AA_AF=0.957558;dbNSFP_Polyphen2_HVAR_score=0.089;dbNSFP_Ancestral_allele=T;dbNSFP_Polyphen2_HDIV_pred=P;dbNSFP_1000Gp1_EUR_AF=1.0;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=0.5863715277777778;dbNSFP_1000Gp1_EUR_AC=758	GT:AD:DP:GQ:PL	1/1:0,726:726:99:20360,1424,0
chr1	147124310	rs2153463	T	G	2053.0	PASS	AC=2;AF=1.00;AN=2;DB;DP=74;Dels=0.00;FS=0.000;HaplotypeScore=0.9789;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=27.74;SB=-9.230e+02;set=variant37;EFF=DOWNSTREAM(MODIFIER||105||271|ENSG00000162836|protein_coding|CODING|ENST00000392988||1),INTRON(MODIFIER|||||ENSG00000162836|processed_transcript|CODING|ENST00000487562|2|1),NEXT_PROT[helix](LOW||||428|ENSG00000162836|protein_coding|CODING|ENST00000369238|7|1),SYNONYMOUS_CODING(LOW|SILENT|Agg/Cgg|p.Arg275Arg/c.823A>C|428|ENSG00000162836|protein_coding|CODING|ENST00000369238|7|1),UPSTREAM(MODIFIER||1825|||ENSG00000162836|processed_transcript|CODING|ENST00000460583||1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2086,168,0
chr1	150471056	rs116476409	C	T	4640.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=2.692;DB;DP=273;Dels=0.00;FS=3.025;HaplotypeScore=6.6507;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.559;QD=17.00;ReadPosRankSum=0.455;SB=-7.901e+01;set=variant37;EFF=DOWNSTREAM(MODIFIER||983|||ENSG00000143374|processed_transcript|CODING|ENST00000460794||1),DOWNSTREAM(MODIFIER||993|||ENSG00000143374|processed_transcript|CODING|ENST00000462578||1),EXON(MODIFIER|||||ENSG00000143374|processed_transcript|CODING|ENST00000463555|4|1),EXON(MODIFIER|||||ENSG00000143374|processed_transcript|CODING|ENST00000467982|8|1),EXON(MODIFIER|||||ENSG00000143374|processed_transcript|CODING|ENST00000480070|4|1),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|p.Ala164Ala/c.492C>T|443|ENSG00000143374|protein_coding|CODING|ENST00000369051|7|1),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|p.Ala309Ala/c.927C>T|588|ENSG00000143374|protein_coding|CODING|ENST00000369054|7|1),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|p.Ala439Ala/c.1317C>T|718|ENSG00000143374|protein_coding|CODING|ENST00000369064|11|1),UTR_3_PRIME(MODIFIER||||169|ENSG00000143374|protein_coding|CODING|ENST00000438568|10|1)	GT:AD:DP:GQ:PL	0/1:134,139:273:99:4640,0,4437
chr1	151820298	rs6587624	G	C	32767.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=2125;Dels=0.00;FS=0.000;HaplotypeScore=20.0450;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=15.42;SB=-3.277e+04;set=variant37;EFF=INTRON(MODIFIER|||||ENSG00000234614|antisense|NON_CODING|ENST00000434182|2|1),NEXT_PROT[beta_strand](LOW||||247|ENSG00000196407|protein_coding|CODING|ENST00000368817|5|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|p.Leu152Val/c.454C>G|249|ENSG00000196407|protein_coding|CODING|ENST00000453881|4|1|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctg/Gtg|p.Leu206Val/c.616C>G|247|ENSG00000196407|protein_coding|CODING|ENST00000368817|5|1);dbNSFP_FATHMM_score_converted=0.30780724691819206,.;dbNSFP_GERP++_RS=3.13;dbNSFP_1000Gp1_ASN_AF=1.0;dbNSFP_Ensembl_geneid=ENSG00000196407;dbNSFP_FATHMM_score=2.4,.;dbNSFP_1000Gp1_ASN_AC=572;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=3.9831;dbNSFP_FATHMM_pred=T,.;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=2;dbNSFP_MutationAssessor_score=-0.855;dbNSFP_1000Gp1_AMR_AC=362;dbNSFP_ESP6500_EA_AF=1.0;dbNSFP_LRT_pred=N,.;dbNSFP_29way_pi=0.1652:0.5857:0.1597:0.0894;dbNSFP_LRT_Omega=0.469539,.;dbNSFP_1000Gp1_AMR_AF=1.0;dbNSFP_GERP++_NR=5.09;dbNSFP_Interpro_domain=Thioesterase_superfamily_(1)|,.;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.089221,.;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.9553895,.;dbNSFP_phyloP=0.566000;dbNSFP_genename=THEM5;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.0,.;dbNSFP_Uniprot_acc=Q8N1Q8,.;dbNSFP_codonpos=1,3;dbNSFP_Polyphen2_HDIV_score=0.0,.;dbNSFP_UniSNP_ids=rs6587624|rs52832279|rs6587624;dbNSFP_SIFT_pred=T,.;dbNSFP_aapos=206,152;dbNSFP_1000Gp1_AFR_AF=0.991869918699187;dbNSFP_1000Gp1_AFR_AC=488;dbNSFP_refcodon=CTG,AAC;dbNSFP_Uniprot_aapos=206,.;dbNSFP_1000Gp1_AC=2180;dbNSFP_1000Gp1_AF=0.9981684981684982;dbNSFP_SIFT_score=1.000000,.;dbNSFP_Uniprot_id=THEM5_HUMAN,.;dbNSFP_Ensembl_transcriptid=ENST00000368817,ENST00000453881;dbNSFP_ESP6500_AA_AF=0.986155;dbNSFP_Polyphen2_HVAR_score=0.001,.;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=B,.;dbNSFP_1000Gp1_EUR_AF=1.0;dbNSFP_Polyphen2_HVAR_pred=B,.;dbNSFP_MutationAssessor_score_converted=0.4071180555555555;dbNSFP_1000Gp1_EUR_AC=758	GT:AD:DP:GQ:PL	1/1:0,2125:2125:99:32767,3266,0
chr1	151820324	rs6587625	T	C	21240.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=23.518;DB;DP=2165;Dels=0.00;FS=0.000;HaplotypeScore=12.8636;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.069;QD=9.81;ReadPosRankSum=5.221;SB=-1.864e+04;set=variant37;EFF=INTRON(MODIFIER|||||ENSG00000234614|antisense|NON_CODING|ENST00000434182|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|p.Asp143Gly/c.428A>G|249|ENSG00000196407|protein_coding|CODING|ENST00000453881|4|1|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAc/gGc|p.Asp197Gly/c.590A>G|247|ENSG00000196407|protein_coding|CODING|ENST00000368817|5|1);dbNSFP_FATHMM_score_converted=0.29622711991034745,.;dbNSFP_GERP++_RS=4.17;dbNSFP_1000Gp1_ASN_AF=0.6625874125874126;dbNSFP_Ensembl_geneid=ENSG00000196407;dbNSFP_FATHMM_score=2.71,.;dbNSFP_1000Gp1_ASN_AC=379;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=7.1408;dbNSFP_FATHMM_pred=T,.;dbNSFP_MutationTaster_score=0.999906;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=-1.27;dbNSFP_1000Gp1_AMR_AC=309;dbNSFP_ESP6500_EA_AF=0.808605;dbNSFP_LRT_pred=N,.;dbNSFP_29way_pi=0.0:0.8002:0.0:0.1998;dbNSFP_LRT_Omega=0.207171,.;dbNSFP_1000Gp1_AMR_AF=0.8535911602209945;dbNSFP_GERP++_NR=5.09;dbNSFP_Interpro_domain=Thioesterase_superfamily_(1)|,.;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.001017,.;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.9994915,.;dbNSFP_phyloP=1.160000;dbNSFP_genename=THEM5;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.0,.;dbNSFP_Uniprot_acc=Q8N1Q8,.;dbNSFP_codonpos=2,1;dbNSFP_Polyphen2_HDIV_score=0.0,.;dbNSFP_UniSNP_ids=rs6587625|rs52794777|rs57310650|rs6587625;dbNSFP_SIFT_pred=T,.;dbNSFP_aapos=197,144;dbNSFP_1000Gp1_AFR_AF=0.8658536585365854;dbNSFP_1000Gp1_AFR_AC=426;dbNSFP_refcodon=GAC,ACT;dbNSFP_Uniprot_aapos=197,.;dbNSFP_1000Gp1_AC=1746;dbNSFP_1000Gp1_AF=0.7994505494505495;dbNSFP_SIFT_score=1.000000,.;dbNSFP_Uniprot_id=THEM5_HUMAN,.;dbNSFP_Ensembl_transcriptid=ENST00000368817,ENST00000453881;dbNSFP_ESP6500_AA_AF=0.858375;dbNSFP_Polyphen2_HVAR_score=0.0,.;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=B,.;dbNSFP_1000Gp1_EUR_AF=0.8337730870712401;dbNSFP_Polyphen2_HVAR_pred=B,.;dbNSFP_MutationAssessor_score_converted=0.37109375000000006;dbNSFP_1000Gp1_EUR_AC=632	GT:AD:DP:GQ:PL	0/1:1069,1095:2165:99:21240,0,20774
chr1	151825991	rs7556386	G	T	3325.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-8.627;DB;DP=266;Dels=0.00;FS=0.000;HaplotypeScore=8.7068;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.675;QD=12.50;ReadPosRankSum=-0.560;SB=-6.519e-03;set=variant37;EFF=DOWNSTREAM(MODIFIER||3130|||ENSG00000234614|antisense|NON_CODING|ENST00000434182||1),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggA|p.Gly17Gly/c.51C>A|247|ENSG00000196407|protein_coding|CODING|ENST00000368817|1|1),UPSTREAM(MODIFIER||1093||249|ENSG00000196407|protein_coding|CODING|ENST00000453881||1)	GT:AD:DP:GQ:PL	0/1:139,127:266:99:3325,0,4580
chr1	151867560	rs3762427	G	A	24815.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=1180;Dels=0.00;FS=0.000;HaplotypeScore=9.5172;MLEAC=2;MLEAF=1.00;MQ=18.08;MQ0=0;QD=21.03;SB=-1.326e+04;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000159445|nonsense_mediated_decay|CODING|ENST00000471464|2|1),NEXT_PROT[turn](LOW||||240|ENSG00000159445|protein_coding|CODING|ENST00000368814|2|1),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|p.Asp70Asp/c.210C>T|110|ENSG00000159445|protein_coding|CODING|ENST00000489410|2|1),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|p.Asp70Asp/c.210C>T|240|ENSG00000159445|protein_coding|CODING|ENST00000368814|2|1),UPSTREAM(MODIFIER||3644|||ENSG00000159445|retained_intron|CODING|ENST00000483207||1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	1/1:0,1180:1180:99:24815,1791,0
chr1	151881885	rs3748805	A	C	7621.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=220;Dels=0.00;FS=0.000;HaplotypeScore=2.8127;MLEAC=2;MLEAF=1.00;MQ=43.42;MQ0=0;QD=34.64;SB=-1.150e+02;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000159445|nonsense_mediated_decay|CODING|ENST00000471464|1|1),NEXT_PROT[transit_peptide:Mitochondrion](LOW||||240|ENSG00000159445|protein_coding|CODING|ENST00000368814|1|1),NEXT_PROT[transit_peptide:Mitochondrion](LOW||||240|ENSG00000159445|protein_coding|CODING|ENST00000368814|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|p.Leu17Arg/c.50T>G|110|ENSG00000159445|protein_coding|CODING|ENST00000489410|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|p.Leu17Arg/c.50T>G|240|ENSG00000159445|protein_coding|CODING|ENST00000368814|1|1);dbNSFP_FATHMM_score_converted=0.3305939484497572;dbNSFP_GERP++_RS=-0.278;dbNSFP_1000Gp1_ASN_AF=0.9527972027972028;dbNSFP_Ensembl_geneid=ENSG00000159445;dbNSFP_FATHMM_score=1.79;dbNSFP_1000Gp1_ASN_AC=545;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=0.4569;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=0;dbNSFP_1000Gp1_AMR_AC=320;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.2457:0.3181:0.2427:0.1934;dbNSFP_LRT_Omega=16.336300;dbNSFP_1000Gp1_AMR_AF=0.8839779005524862;dbNSFP_GERP++_NR=1.92;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.139768;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.069884;dbNSFP_phyloP=-0.432000;dbNSFP_genename=THEM4;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.30000000000000004;dbNSFP_Uniprot_acc=Q5T1C6;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=0.0;dbNSFP_UniSNP_ids=rs3748805|rs17855960;dbNSFP_SIFT_pred=T;dbNSFP_aapos=17;dbNSFP_1000Gp1_AFR_AF=0.9207317073170732;dbNSFP_1000Gp1_AFR_AC=453;dbNSFP_refcodon=CTG;dbNSFP_Uniprot_aapos=17;dbNSFP_1000Gp1_AC=2023;dbNSFP_1000Gp1_AF=0.9262820512820513;dbNSFP_SIFT_score=0.700000;dbNSFP_Uniprot_id=THEM4_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000368814|ENST00000489410;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=0.0;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.9300791556728232;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=0.4813368055555556;dbNSFP_1000Gp1_EUR_AC=705	GT:AD:DP:GQ:PL	1/1:0,220:220:99:7621,650,0
chr1	155178782	rs760077	A	T	5830.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=176;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=33.13;SB=-2.504e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||2160|||ENSG00000236263|antisense|NON_CODING|ENST00000455788||1),DOWNSTREAM(MODIFIER||3496|||ENSG00000231064|antisense|NON_CODING|ENST00000453136||1),DOWNSTREAM(MODIFIER||3624|||ENSG00000231064|antisense|NON_CODING|ENST00000430312||1),DOWNSTREAM(MODIFIER||3685|||ENSG00000231064|antisense|NON_CODING|ENST00000422665||1),DOWNSTREAM(MODIFIER||4834|||ENSG00000160766|processed_transcript|NON_CODING|ENST00000368374||1),DOWNSTREAM(MODIFIER||4834|||ENSG00000160766|processed_transcript|NON_CODING|ENST00000486869||1),DOWNSTREAM(MODIFIER||4834|||ENSG00000160766|retained_intron|NON_CODING|ENST00000459805||1),DOWNSTREAM(MODIFIER||4835|||ENSG00000160766|retained_intron|NON_CODING|ENST00000473223||1),DOWNSTREAM(MODIFIER||4835|||ENSG00000160766|retained_intron|NON_CODING|ENST00000486197||1),EXON(MODIFIER|||||ENSG00000169231|processed_transcript|CODING|ENST00000486260|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Tct|p.Thr63Ser/c.187A>T|435|ENSG00000173171|protein_coding|CODING|ENST00000316721|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Tct|p.Thr63Ser/c.187A>T|466|ENSG00000173171|protein_coding|CODING|ENST00000368376|1|1),UPSTREAM(MODIFIER||1074||836|ENSG00000169231|protein_coding|CODING|ENST00000457183||1),UPSTREAM(MODIFIER||1092||400|ENSG00000169231|protein_coding|CODING|ENST00000428962||1),UPSTREAM(MODIFIER||1092||485|ENSG00000169231|protein_coding|CODING|ENST00000541990||1),UPSTREAM(MODIFIER||1094||956|ENSG00000169231|protein_coding|CODING|ENST00000368378||1),UPSTREAM(MODIFIER||1096|||ENSG00000169231|processed_transcript|CODING|ENST00000487250||1),UPSTREAM(MODIFIER||1857|||ENSG00000173171|processed_transcript|CODING|ENST00000495589||1),UPSTREAM(MODIFIER||247||314|ENSG00000173171|protein_coding|CODING|ENST00000424959||1),UPSTREAM(MODIFIER||260|||ENSG00000173171|processed_transcript|CODING|ENST00000481771||1),UPSTREAM(MODIFIER||3464|||ENSG00000173171|processed_transcript|CODING|ENST00000495492||1);dbNSFP_FATHMM_score_converted=0.3361972357116175;dbNSFP_GERP++_RS=-2.39;dbNSFP_1000Gp1_ASN_AF=0.8286713286713286;dbNSFP_Ensembl_geneid=ENSG00000173171;dbNSFP_FATHMM_score=1.64;dbNSFP_1000Gp1_ASN_AC=474;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=0.3438;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=-0.975;dbNSFP_1000Gp1_AMR_AC=252;dbNSFP_ESP6500_EA_AF=0.605561;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.2917:0.2744:0.1499:0.2841;dbNSFP_LRT_Omega=0.398228;dbNSFP_1000Gp1_AMR_AF=0.6961325966850829;dbNSFP_GERP++_NR=4.25;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.138831;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.9305845;dbNSFP_phyloP=-0.656000;dbNSFP_genename=MTX1;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.0;dbNSFP_Uniprot_acc=Q13505-2|Q13505;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.0|0.0;dbNSFP_UniSNP_ids=rs760077|rs57404131;dbNSFP_SIFT_pred=T;dbNSFP_aapos=63;dbNSFP_1000Gp1_AFR_AF=0.6382113821138211;dbNSFP_1000Gp1_AFR_AC=314;dbNSFP_refcodon=ACT;dbNSFP_Uniprot_aapos=63|63;dbNSFP_1000Gp1_AC=1515;dbNSFP_1000Gp1_AF=0.6936813186813187;dbNSFP_SIFT_score=1.000000;dbNSFP_Uniprot_id=.|MTX1_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000368376|ENST00000316721;dbNSFP_ESP6500_AA_AF=0.676416;dbNSFP_Polyphen2_HVAR_score=0.0|0.0;dbNSFP_Ancestral_allele=T;dbNSFP_Polyphen2_HDIV_pred=B|B;dbNSFP_1000Gp1_EUR_AF=0.6266490765171504;dbNSFP_Polyphen2_HVAR_pred=B|B;dbNSFP_MutationAssessor_score_converted=0.39670138888888895;dbNSFP_1000Gp1_EUR_AC=475	GT:AD:DP:GQ:PL	1/1:0,176:176:99:5830,415,0
chr1	156561651	rs7516274	G	C	18244.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=864;Dels=0.00;FS=0.000;HaplotypeScore=8.3059;MLEAC=2;MLEAF=1.00;MQ=18.10;MQ0=0;QD=21.12;SB=-9.087e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||2628||370|ENSG00000160818|protein_coding|CODING|ENST00000368232||1),DOWNSTREAM(MODIFIER||3354||375|ENSG00000160818|protein_coding|CODING|ENST00000438976||1),DOWNSTREAM(MODIFIER||3586||263|ENSG00000160818|protein_coding|CODING|ENST00000415314||1),DOWNSTREAM(MODIFIER||3739|||ENSG00000160818|retained_intron|CODING|ENST00000494414||1),DOWNSTREAM(MODIFIER||3747|||ENSG00000160818|processed_transcript|CODING|ENST00000497287||1),DOWNSTREAM(MODIFIER||3808|||ENSG00000160818|nonsense_mediated_decay|CODING|ENST00000463513||1),DOWNSTREAM(MODIFIER||3858|||ENSG00000160818|retained_intron|CODING|ENST00000498641||1),DOWNSTREAM(MODIFIER||3861|||ENSG00000160818|retained_intron|CODING|ENST00000473910||1),DOWNSTREAM(MODIFIER||3861|||ENSG00000160818|retained_intron|CODING|ENST00000529520||1),DOWNSTREAM(MODIFIER||4221|||ENSG00000160818|processed_transcript|CODING|ENST00000531129||1),DOWNSTREAM(MODIFIER||4222|||ENSG00000160818|nonsense_mediated_decay|CODING|ENST00000474904||1),DOWNSTREAM(MODIFIER||4435|||ENSG00000160818|retained_intron|CODING|ENST00000498756||1),NEXT_PROT[transit_peptide:Mitochondrion](LOW||||288|ENSG00000163382|protein_coding|CODING|ENST00000368235|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|p.Val19Leu/c.55G>C|245|ENSG00000163382|protein_coding|CODING|ENST00000368233|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|p.Val19Leu/c.55G>C|260|ENSG00000163382|protein_coding|CODING|ENST00000368234|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|p.Val19Leu/c.55G>C|288|ENSG00000163382|protein_coding|CODING|ENST00000368235|1|1),UPSTREAM(MODIFIER||1416|||ENSG00000163382|processed_transcript|CODING|ENST00000488840||1),UPSTREAM(MODIFIER||33|||ENSG00000163382|processed_transcript|CODING|ENST00000467374||1),UPSTREAM(MODIFIER||3904|||ENSG00000265960|miRNA|NON_CODING|ENST00000581084||1);dbNSFP_FATHMM_score_converted=0.36271946208442285;dbNSFP_GERP++_RS=1.94;dbNSFP_1000Gp1_ASN_AF=0.9685314685314685;dbNSFP_Ensembl_geneid=ENSG00000163382;dbNSFP_FATHMM_score=0.93;dbNSFP_1000Gp1_ASN_AC=554;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=5.9438;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=-1.1;dbNSFP_1000Gp1_AMR_AC=348;dbNSFP_ESP6500_EA_AF=0.977;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.0:0.2744:0.5574:0.1681;dbNSFP_LRT_Omega=0.463760;dbNSFP_1000Gp1_AMR_AF=0.9613259668508287;dbNSFP_GERP++_NR=4.09;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.083830;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.958085;dbNSFP_phyloP=0.354000;dbNSFP_genename=APOA1BP;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.0;dbNSFP_Uniprot_acc=Q5T3I3|Q8NCW5|Q5T3I4;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.0|0.0|0.0;dbNSFP_UniSNP_ids=rs7516274|rs11550012|rs17857464;dbNSFP_SIFT_pred=T;dbNSFP_aapos=37|19|19|19;dbNSFP_1000Gp1_AFR_AF=0.8841463414634146;dbNSFP_1000Gp1_AFR_AC=435;dbNSFP_refcodon=GTG;dbNSFP_Uniprot_aapos=19|19|19;dbNSFP_1000Gp1_AC=2065;dbNSFP_1000Gp1_AF=0.9455128205128205;dbNSFP_SIFT_score=1.000000;dbNSFP_Uniprot_id=.|AIBP_HUMAN|.;dbNSFP_Ensembl_transcriptid=ENST00000446584|ENST00000368234|ENST00000368235|ENST00000368233;dbNSFP_ESP6500_AA_AF=0.888889;dbNSFP_Polyphen2_HVAR_score=0.0|0.0|0.0;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=B|B|B;dbNSFP_1000Gp1_EUR_AF=0.9604221635883905;dbNSFP_Polyphen2_HVAR_pred=B|B|B;dbNSFP_MutationAssessor_score_converted=0.3858506944444445;dbNSFP_1000Gp1_EUR_AC=728	GT:AD:DP:GQ:PL	1/1:0,864:864:99:18244,1398,0
chr1	156563726	rs6427322	A	C	15491.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=587;Dels=0.00;FS=0.000;HaplotypeScore=5.6567;MLEAC=2;MLEAF=1.00;MQ=28.46;MQ0=0;QD=26.39;SB=-6.829e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||1279||375|ENSG00000160818|protein_coding|CODING|ENST00000438976||1),DOWNSTREAM(MODIFIER||1511||263|ENSG00000160818|protein_coding|CODING|ENST00000415314||1),DOWNSTREAM(MODIFIER||1664|||ENSG00000160818|retained_intron|CODING|ENST00000494414||1),DOWNSTREAM(MODIFIER||1672|||ENSG00000160818|processed_transcript|CODING|ENST00000497287||1),DOWNSTREAM(MODIFIER||1733|||ENSG00000160818|nonsense_mediated_decay|CODING|ENST00000463513||1),DOWNSTREAM(MODIFIER||1783|||ENSG00000160818|retained_intron|CODING|ENST00000498641||1),DOWNSTREAM(MODIFIER||1786|||ENSG00000160818|retained_intron|CODING|ENST00000473910||1),DOWNSTREAM(MODIFIER||1786|||ENSG00000160818|retained_intron|CODING|ENST00000529520||1),DOWNSTREAM(MODIFIER||2146|||ENSG00000160818|processed_transcript|CODING|ENST00000531129||1),DOWNSTREAM(MODIFIER||2147|||ENSG00000160818|nonsense_mediated_decay|CODING|ENST00000474904||1),DOWNSTREAM(MODIFIER||2360|||ENSG00000160818|retained_intron|CODING|ENST00000498756||1),DOWNSTREAM(MODIFIER||3534|||ENSG00000160818|retained_intron|CODING|ENST00000506832||1),DOWNSTREAM(MODIFIER||3830|||ENSG00000160818|retained_intron|CODING|ENST00000527691||1),DOWNSTREAM(MODIFIER||3876||139|ENSG00000160818|protein_coding|CODING|ENST00000334588||1),DOWNSTREAM(MODIFIER||4006|||ENSG00000160818|retained_intron|CODING|ENST00000531900||1),DOWNSTREAM(MODIFIER||553||370|ENSG00000160818|protein_coding|CODING|ENST00000368232||1),DOWNSTREAM(MODIFIER||58||245|ENSG00000163382|protein_coding|CODING|ENST00000368233||1),DOWNSTREAM(MODIFIER||910|||ENSG00000163382|processed_transcript|CODING|ENST00000467374||1),EXON(MODIFIER|||||ENSG00000163382|processed_transcript|CODING|ENST00000488840|2|1),NEXT_PROT[domain:YjeF_N-terminal](LOW||||288|ENSG00000163382|protein_coding|CODING|ENST00000368235|2|1),NEXT_PROT[domain:YjeF_N-terminal](LOW||||288|ENSG00000163382|protein_coding|CODING|ENST00000368235|3|1),NEXT_PROT[domain:YjeF_N-terminal](LOW||||288|ENSG00000163382|protein_coding|CODING|ENST00000368235|4|1),NEXT_PROT[domain:YjeF_N-terminal](LOW||||288|ENSG00000163382|protein_coding|CODING|ENST00000368235|5|1),NEXT_PROT[domain:YjeF_N-terminal](LOW||||288|ENSG00000163382|protein_coding|CODING|ENST00000368235|6|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Atc/Ctc|p.Ile221Leu/c.661A>C|260|ENSG00000163382|protein_coding|CODING|ENST00000368234|6|1),SYNONYMOUS_CODING(LOW|SILENT|atA/atC|p.Ile239Ile/c.717A>C|288|ENSG00000163382|protein_coding|CODING|ENST00000368235|6|1);dbNSFP_FATHMM_score_converted=0.3701905117669032;dbNSFP_GERP++_RS=2.99;dbNSFP_1000Gp1_ASN_AF=0.9685314685314685;dbNSFP_Ensembl_geneid=ENSG00000163382;dbNSFP_FATHMM_score=0.73;dbNSFP_1000Gp1_ASN_AC=554;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=4.4246;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=3.1933e-20;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=348;dbNSFP_ESP6500_EA_AF=0.969767;dbNSFP_LRT_pred=D;dbNSFP_29way_pi=0.1573:0.5942:0.0:0.2485;dbNSFP_LRT_Omega=0.105265;dbNSFP_1000Gp1_AMR_AF=0.9613259668508287;dbNSFP_GERP++_NR=4.86;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=0.000005;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.9999975;dbNSFP_phyloP=0.129000;dbNSFP_genename=APOA1BP;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.36;dbNSFP_Uniprot_acc=Q5T3I3;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.0;dbNSFP_UniSNP_ids=rs6427322|rs17857465|rs57072601|rs6427322;dbNSFP_SIFT_pred=T;dbNSFP_aapos=221;dbNSFP_1000Gp1_AFR_AF=0.8780487804878049;dbNSFP_1000Gp1_AFR_AC=432;dbNSFP_refcodon=ATC;dbNSFP_Uniprot_aapos=221;dbNSFP_1000Gp1_AC=2062;dbNSFP_1000Gp1_AF=0.9441391941391941;dbNSFP_SIFT_score=0.640000;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=ENST00000368234;dbNSFP_ESP6500_AA_AF=0.857694;dbNSFP_Polyphen2_HVAR_score=0.0;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.9604221635883905;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=728	GT:AD:DP:GQ:PL	1/1:0,586:586:99:15491,1096,0
chr1	156563813	rs6668178	G	A	17502.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=716;Dels=0.00;FS=0.000;HaplotypeScore=13.9800;MLEAC=2;MLEAF=1.00;MQ=24.61;MQ0=0;QD=24.44;SB=-6.488e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||1192||375|ENSG00000160818|protein_coding|CODING|ENST00000438976||1),DOWNSTREAM(MODIFIER||1424||263|ENSG00000160818|protein_coding|CODING|ENST00000415314||1),DOWNSTREAM(MODIFIER||145||245|ENSG00000163382|protein_coding|CODING|ENST00000368233||1),DOWNSTREAM(MODIFIER||1577|||ENSG00000160818|retained_intron|CODING|ENST00000494414||1),DOWNSTREAM(MODIFIER||1585|||ENSG00000160818|processed_transcript|CODING|ENST00000497287||1),DOWNSTREAM(MODIFIER||1646|||ENSG00000160818|nonsense_mediated_decay|CODING|ENST00000463513||1),DOWNSTREAM(MODIFIER||1696|||ENSG00000160818|retained_intron|CODING|ENST00000498641||1),DOWNSTREAM(MODIFIER||1699|||ENSG00000160818|retained_intron|CODING|ENST00000473910||1),DOWNSTREAM(MODIFIER||1699|||ENSG00000160818|retained_intron|CODING|ENST00000529520||1),DOWNSTREAM(MODIFIER||2059|||ENSG00000160818|processed_transcript|CODING|ENST00000531129||1),DOWNSTREAM(MODIFIER||2060|||ENSG00000160818|nonsense_mediated_decay|CODING|ENST00000474904||1),DOWNSTREAM(MODIFIER||2273|||ENSG00000160818|retained_intron|CODING|ENST00000498756||1),DOWNSTREAM(MODIFIER||3447|||ENSG00000160818|retained_intron|CODING|ENST00000506832||1),DOWNSTREAM(MODIFIER||3743|||ENSG00000160818|retained_intron|CODING|ENST00000527691||1),DOWNSTREAM(MODIFIER||3789||139|ENSG00000160818|protein_coding|CODING|ENST00000334588||1),DOWNSTREAM(MODIFIER||3919|||ENSG00000160818|retained_intron|CODING|ENST00000531900||1),DOWNSTREAM(MODIFIER||466||370|ENSG00000160818|protein_coding|CODING|ENST00000368232||1),DOWNSTREAM(MODIFIER||4946|||ENSG00000160818|retained_intron|CODING|ENST00000525375||1),DOWNSTREAM(MODIFIER||997|||ENSG00000163382|processed_transcript|CODING|ENST00000467374||1),EXON(MODIFIER|||||ENSG00000163382|processed_transcript|CODING|ENST00000488840|2|1),NEXT_PROT[domain:YjeF_N-terminal](LOW||||288|ENSG00000163382|protein_coding|CODING|ENST00000368235|2|1),NEXT_PROT[domain:YjeF_N-terminal](LOW||||288|ENSG00000163382|protein_coding|CODING|ENST00000368235|3|1),NEXT_PROT[domain:YjeF_N-terminal](LOW||||288|ENSG00000163382|protein_coding|CODING|ENST00000368235|4|1),NEXT_PROT[domain:YjeF_N-terminal](LOW||||288|ENSG00000163382|protein_coding|CODING|ENST00000368235|5|1),NEXT_PROT[domain:YjeF_N-terminal](LOW||||288|ENSG00000163382|protein_coding|CODING|ENST00000368235|6|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|p.Glu250Lys/c.748G>A|260|ENSG00000163382|protein_coding|CODING|ENST00000368234|6|1),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|p.Glu268Glu/c.804G>A|288|ENSG00000163382|protein_coding|CODING|ENST00000368235|6|1);dbNSFP_FATHMM_score_converted=0.37542024654463957;dbNSFP_GERP++_RS=1.31;dbNSFP_1000Gp1_ASN_AF=0.9685314685314685;dbNSFP_Ensembl_geneid=ENSG00000163382;dbNSFP_FATHMM_score=0.59;dbNSFP_1000Gp1_ASN_AC=554;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=4.4958;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=2.66961e-10;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=348;dbNSFP_ESP6500_EA_AF=0.969767;dbNSFP_LRT_pred=D;dbNSFP_29way_pi=0.3981:0.1885:0.4134:0.0;dbNSFP_LRT_Omega=0.053404;dbNSFP_1000Gp1_AMR_AF=0.9613259668508287;dbNSFP_GERP++_NR=5.29;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=0.000000;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=1.0;dbNSFP_phyloP=0.301000;dbNSFP_genename=APOA1BP;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.97;dbNSFP_Uniprot_acc=Q5T3I3;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.0;dbNSFP_UniSNP_ids=rs6668178|rs17857466|rs60444567|rs6668178;dbNSFP_SIFT_pred=D;dbNSFP_aapos=250;dbNSFP_1000Gp1_AFR_AF=0.8780487804878049;dbNSFP_1000Gp1_AFR_AC=432;dbNSFP_refcodon=GAA;dbNSFP_Uniprot_aapos=250;dbNSFP_1000Gp1_AC=2062;dbNSFP_1000Gp1_AF=0.9441391941391941;dbNSFP_SIFT_score=0.030000;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=ENST00000368234;dbNSFP_ESP6500_AA_AF=0.857694;dbNSFP_Polyphen2_HVAR_score=0.0;dbNSFP_Ancestral_allele=A;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.9604221635883905;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=728	GT:AD:DP:GQ:PL	1/1:0,716:716:99:17502,1288,0
chr1	156563852	rs942963	C	T	21091.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=887;Dels=0.00;FS=0.000;HaplotypeScore=7.2864;MLEAC=2;MLEAF=1.00;MQ=23.65;MQ0=0;QD=23.78;SB=-8.757e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||1036|||ENSG00000163382|processed_transcript|CODING|ENST00000467374||1),DOWNSTREAM(MODIFIER||1153||375|ENSG00000160818|protein_coding|CODING|ENST00000438976||1),DOWNSTREAM(MODIFIER||1385||263|ENSG00000160818|protein_coding|CODING|ENST00000415314||1),DOWNSTREAM(MODIFIER||1538|||ENSG00000160818|retained_intron|CODING|ENST00000494414||1),DOWNSTREAM(MODIFIER||1546|||ENSG00000160818|processed_transcript|CODING|ENST00000497287||1),DOWNSTREAM(MODIFIER||1607|||ENSG00000160818|nonsense_mediated_decay|CODING|ENST00000463513||1),DOWNSTREAM(MODIFIER||1657|||ENSG00000160818|retained_intron|CODING|ENST00000498641||1),DOWNSTREAM(MODIFIER||1660|||ENSG00000160818|retained_intron|CODING|ENST00000473910||1),DOWNSTREAM(MODIFIER||1660|||ENSG00000160818|retained_intron|CODING|ENST00000529520||1),DOWNSTREAM(MODIFIER||184||245|ENSG00000163382|protein_coding|CODING|ENST00000368233||1),DOWNSTREAM(MODIFIER||2020|||ENSG00000160818|processed_transcript|CODING|ENST00000531129||1),DOWNSTREAM(MODIFIER||2021|||ENSG00000160818|nonsense_mediated_decay|CODING|ENST00000474904||1),DOWNSTREAM(MODIFIER||2234|||ENSG00000160818|retained_intron|CODING|ENST00000498756||1),DOWNSTREAM(MODIFIER||3408|||ENSG00000160818|retained_intron|CODING|ENST00000506832||1),DOWNSTREAM(MODIFIER||3704|||ENSG00000160818|retained_intron|CODING|ENST00000527691||1),DOWNSTREAM(MODIFIER||3750||139|ENSG00000160818|protein_coding|CODING|ENST00000334588||1),DOWNSTREAM(MODIFIER||3880|||ENSG00000160818|retained_intron|CODING|ENST00000531900||1),DOWNSTREAM(MODIFIER||427||370|ENSG00000160818|protein_coding|CODING|ENST00000368232||1),DOWNSTREAM(MODIFIER||4907|||ENSG00000160818|retained_intron|CODING|ENST00000525375||1),EXON(MODIFIER|||||ENSG00000163382|processed_transcript|CODING|ENST00000488840|2|1),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|p.Thr281Thr/c.843C>T|288|ENSG00000163382|protein_coding|CODING|ENST00000368235|6|1),UTR_3_PRIME(MODIFIER||||260|ENSG00000163382|protein_coding|CODING|ENST00000368234|6|1)	GT:AD:DP:GQ:PL	1/1:0,887:887:99:21091,1541,0
chr1	165648709	rs1143661	C	T	18477.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=8.976;DB;DP=2043;Dels=0.00;FS=0.838;HaplotypeScore=6.8049;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.069;QD=9.04;ReadPosRankSum=-3.618;SB=-1.558e+04;set=variant37;EFF=DOWNSTREAM(MODIFIER||1015|||ENSG00000143149|processed_transcript|CODING|ENST00000461664||1),DOWNSTREAM(MODIFIER||2691|||ENSG00000225272|processed_pseudogene|NON_CODING|ENST00000437709||1),DOWNSTREAM(MODIFIER||3353|||ENSG00000143149|retained_intron|CODING|ENST00000471457||1),EXON(MODIFIER|||||ENSG00000143149|processed_transcript|CODING|ENST00000491436|2|1),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|p.Ala206Ala/c.618G>A|424|ENSG00000143149|protein_coding|CODING|ENST00000538148|6|1),SYNONYMOUS_CODING(LOW|SILENT|gcG/gcA|p.Ala300Ala/c.900G>A|518|ENSG00000143149|protein_coding|CODING|ENST00000354775|6|1)	GT:AD:DP:GQ:PL	0/1:1092,951:2043:99:18477,0,21583
chr1	165652273	rs1143659	A	G	10075.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-13.758;DB;DP=884;Dels=0.00;FS=1.690;HaplotypeScore=19.7105;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.337;QD=11.40;ReadPosRankSum=1.228;SB=-5.724e+03;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000143149|processed_transcript|CODING|ENST00000461664|3|1),EXON(MODIFIER|||||ENSG00000143149|retained_intron|CODING|ENST00000471457|3|1),SYNONYMOUS_CODING(LOW|SILENT|atT/atC|p.Ile134Ile/c.402T>C|518|ENSG00000143149|protein_coding|CODING|ENST00000354775|3|1),SYNONYMOUS_CODING(LOW|SILENT|atT/atC|p.Ile40Ile/c.120T>C|424|ENSG00000143149|protein_coding|CODING|ENST00000538148|3|1),UPSTREAM(MODIFIER||2401|||ENSG00000143149|processed_transcript|CODING|ENST00000491436||1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:434,450:884:99:10075,0,9896
chr1	167893759	rs9618	G	A	2656.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-0.846;DB;DP=180;Dels=0.00;FS=1.440;HaplotypeScore=1.7825;MLEAC=1;MLEAF=0.500;MQ=42.36;MQ0=0;MQRankSum=0.938;QD=14.76;ReadPosRankSum=-0.084;SB=-6.740e+02;set=variant37;EFF=NEXT_PROT[transmembrane_region:Transmembrane_region](LOW||||127|ENSG00000143158|protein_coding|CODING|ENST00000271373|3|1),NEXT_PROT[transmembrane_region:Transmembrane_region](LOW||||127|ENSG00000143158|protein_coding|CODING|ENST00000271373|4|1),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|p.Phe42Phe/c.126C>T|104|ENSG00000143158|protein_coding|CODING|ENST00000458574|3|1),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|p.Phe42Phe/c.126C>T|127|ENSG00000143158|protein_coding|CODING|ENST00000271373|3|1),SYNONYMOUS_CODING(LOW|SILENT|ttC/ttT|p.Phe42Phe/c.126C>T|127|ENSG00000143158|protein_coding|CODING|ENST00000367846|2|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:86,94:180:99:2686,0,2330
chr1	169435027	rs2678166	C	T	7192.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=176;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=40.86;SB=-1.809e+03;set=variant37;EFF=UTR_3_PRIME(MODIFIER||||296|ENSG00000117479|protein_coding|CODING|ENST00000367804|5|1),UTR_3_PRIME(MODIFIER||||459|ENSG00000117479|protein_coding|CODING|ENST00000367802|6|1),UTR_3_PRIME(MODIFIER||||497|ENSG00000117479|protein_coding|CODING|ENST00000236137|6|1)	GT:AD:DP:GQ:PL	1/1:0,176:176:99:7192,530,0
chr1	169455008	rs2072757	G	A	4983.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-1.279;DB;DP=284;Dels=0.00;FS=0.000;HaplotypeScore=3.5771;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-1.115;QD=17.55;ReadPosRankSum=0.427;SB=-6.519e-03;set=variant37;EFF=UPSTREAM(MODIFIER||372|||ENSG00000213062|pseudogene|NON_CODING|ENST00000392097||1),UTR_5_PRIME(MODIFIER||||296|ENSG00000117479|protein_coding|CODING|ENST00000367804|1|1),UTR_5_PRIME(MODIFIER||||459|ENSG00000117479|protein_coding|CODING|ENST00000367802|1|1),UTR_5_PRIME(MODIFIER||||497|ENSG00000117479|protein_coding|CODING|ENST00000236137|1|1)	GT:AD:DP:GQ:PL	0/1:133,151:284:99:4983,0,3857
chr1	182544581	rs36053738	C	T	11380.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-10.242;DB;DP=980;Dels=0.00;FS=0.230;HaplotypeScore=20.4984;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.576;QD=11.61;ReadPosRankSum=2.419;SB=-7.456e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||2675||652|ENSG00000135828|protein_coding|CODING|ENST00000539397||1),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|p.Lys724Lys/c.2172G>A|741|ENSG00000135828|protein_coding|CODING|ENST00000367559|7|1),SYNONYMOUS_CODING(LOW|SILENT|aaG/aaA|p.Lys724Lys/c.2172G>A|741|ENSG00000135828|protein_coding|CODING|ENST00000444138|6|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:480,497:980:99:11380,0,11049
chr1	182551337	rs627928	A	C	4603.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=8.268;DB;DP=276;Dels=0.00;FS=0.487;HaplotypeScore=1.9731;MLEAC=1;MLEAF=0.500;MQ=42.38;MQ0=0;MQRankSum=1.924;QD=16.68;ReadPosRankSum=-1.124;SB=-1.276e+03;set=variant37;EFF=NEXT_PROT[domain:Protein_kinase](LOW||||741|ENSG00000135828|protein_coding|CODING|ENST00000444138|1|1),NEXT_PROT[domain:Protein_kinase](LOW||||741|ENSG00000135828|protein_coding|CODING|ENST00000444138|2|1),NEXT_PROT[domain:Protein_kinase](LOW||||741|ENSG00000135828|protein_coding|CODING|ENST00000444138|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaT/gaG|p.Asp541Glu/c.1623T>G|652|ENSG00000135828|protein_coding|CODING|ENST00000539397|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaT/gaG|p.Asp541Glu/c.1623T>G|741|ENSG00000135828|protein_coding|CODING|ENST00000367559|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaT/gaG|p.Asp541Glu/c.1623T>G|741|ENSG00000135828|protein_coding|CODING|ENST00000444138|3|1);dbNSFP_FATHMM_score_converted=0.3205080313784088;dbNSFP_GERP++_RS=-5.59;dbNSFP_1000Gp1_ASN_AF=0.7097902097902098;dbNSFP_Ensembl_geneid=ENSG00000135828;dbNSFP_FATHMM_score=2.06;dbNSFP_1000Gp1_ASN_AC=406;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=3.9872;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=2;dbNSFP_MutationAssessor_score=0.565;dbNSFP_1000Gp1_AMR_AC=173;dbNSFP_ESP6500_EA_AF=0.545349;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.0928:0.208:0.1835:0.5157;dbNSFP_LRT_Omega=0.727986;dbNSFP_1000Gp1_AMR_AF=0.47790055248618785;dbNSFP_GERP++_NR=5.1;dbNSFP_Interpro_domain=Protein_kinase-like_domain_(1)|Protein_kinase|_catalytic_domain_(1)|;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.472757;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.7636215;dbNSFP_phyloP=-1.577000;dbNSFP_genename=RNASEL;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.0;dbNSFP_Uniprot_acc=Q6AI46|Q05823;dbNSFP_codonpos=3;dbNSFP_Polyphen2_HDIV_score=0.0|0.0;dbNSFP_UniSNP_ids=rs627928|rs52792868|rs56422366|rs58339470|rs627928;dbNSFP_SIFT_pred=T;dbNSFP_aapos=541;dbNSFP_1000Gp1_AFR_AF=0.25203252032520324;dbNSFP_1000Gp1_AFR_AC=124;dbNSFP_refcodon=GAT;dbNSFP_Uniprot_aapos=541|541;dbNSFP_1000Gp1_AC=1146;dbNSFP_1000Gp1_AF=0.5247252747252747;dbNSFP_SIFT_score=1.000000;dbNSFP_Uniprot_id=.|RN5A_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000367559|ENST00000444138|ENST00000539397;dbNSFP_ESP6500_AA_AF=0.329324;dbNSFP_Polyphen2_HVAR_score=0.0|0.0;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=B|B;dbNSFP_1000Gp1_EUR_AF=0.5844327176781002;dbNSFP_Polyphen2_HVAR_pred=B|B;dbNSFP_MutationAssessor_score_converted=0.5303819444444444;dbNSFP_1000Gp1_EUR_AC=443	GT:AD:DP:GQ:PL	0/1:144,132:276:99:4603,0,4965
chr1	193074651	rs10921310	T	A	489.0	PASS	AC=2;AF=1.00;AN=2;DB;DP=19;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=25.74;SB=-3.000e+02;set=variant37;EFF=INTRON(MODIFIER|||||ENSG00000023572|processed_transcript|CODING|ENST00000472197|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Tgg|p.Arg40Trp/c.118A>T|165|ENSG00000023572|protein_coding|CODING|ENST00000367440|1|1),UPSTREAM(MODIFIER||90||164|ENSG00000023572|protein_coding|CODING|ENST00000367439||1);dbNSFP_FATHMM_score_converted=0.3459096002988421;dbNSFP_GERP++_RS=0.911;dbNSFP_1000Gp1_ASN_AF=0.4405594405594406;dbNSFP_Ensembl_geneid=ENSG00000023572;dbNSFP_FATHMM_score=1.38;dbNSFP_1000Gp1_ASN_AC=252;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=1.3138;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=2;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=265;dbNSFP_ESP6500_EA_AF=0.737413;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.1384:0.2193:0.4177:0.2246;dbNSFP_LRT_Omega=11.327300;dbNSFP_1000Gp1_AMR_AF=0.7320441988950276;dbNSFP_GERP++_NR=2.89;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=0.000001;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=5.0E-7;dbNSFP_phyloP=-0.030000;dbNSFP_genename=GLRX2;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.79;dbNSFP_Uniprot_acc=Q9NS18-2;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.0;dbNSFP_UniSNP_ids=rs10921310|rs57478706;dbNSFP_SIFT_pred=T;dbNSFP_aapos=40;dbNSFP_1000Gp1_AFR_AF=0.7479674796747967;dbNSFP_1000Gp1_AFR_AC=368;dbNSFP_refcodon=AGG;dbNSFP_Uniprot_aapos=40;dbNSFP_1000Gp1_AC=1406;dbNSFP_1000Gp1_AF=0.6437728937728938;dbNSFP_SIFT_score=0.210000;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=ENST00000367440;dbNSFP_ESP6500_AA_AF=0.735991;dbNSFP_Polyphen2_HVAR_score=0.0;dbNSFP_Ancestral_allele=A;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.6873350923482849;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=521	GT:AD:DP:GQ:PL	1/1:0,19:19:39:522,39,0
chr1	212965284	rs61736926	C	G	3005.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-3.055;DB;DP=172;Dels=0.00;FS=4.157;HaplotypeScore=4.1173;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.521;QD=17.47;ReadPosRankSum=-1.022;SB=-9.040e+02;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000203705|nonsense_mediated_decay|CODING|ENST00000525574|1|1),EXON(MODIFIER|||||ENSG00000203705|nonsense_mediated_decay|CODING|ENST00000533650|1|1),EXON(MODIFIER|||||ENSG00000203705|retained_intron|CODING|ENST00000532433|1|1),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggG|p.Gly6Gly/c.18C>G|143|ENSG00000203705|protein_coding|CODING|ENST00000488246|1|1|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggG|p.Gly7Gly/c.21C>G|191|ENSG00000203705|protein_coding|CODING|ENST00000526997|1|1),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggG|p.Gly7Gly/c.21C>G|240|ENSG00000203705|protein_coding|CODING|ENST00000531963|1|1),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggG|p.Gly7Gly/c.21C>G|253|ENSG00000203705|protein_coding|CODING|ENST00000526641|1|1),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggG|p.Gly7Gly/c.21C>G|273|ENSG00000203705|protein_coding|CODING|ENST00000366973|1|1),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggG|p.Gly7Gly/c.21C>G|274|ENSG00000203705|protein_coding|CODING|ENST00000366974|1|1),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggG|p.Gly7Gly/c.21C>G|281|ENSG00000203705|protein_coding|CODING|ENST00000532324|1|1),SYNONYMOUS_CODING(LOW|SILENT|ggC/ggG|p.Gly7Gly/c.21C>G|61|ENSG00000203705|protein_coding|CODING|ENST00000530441|1|1),UPSTREAM(MODIFIER||160||172|ENSG00000117697|protein_coding|CODING|ENST00000366976||1),UPSTREAM(MODIFIER||160||281|ENSG00000117697|protein_coding|CODING|ENST00000366977||1),UPSTREAM(MODIFIER||160|||ENSG00000117697|processed_transcript|CODING|ENST00000487995||1),UPSTREAM(MODIFIER||165||213|ENSG00000117697|protein_coding|CODING|ENST00000422588||1),UPSTREAM(MODIFIER||165||240|ENSG00000117697|protein_coding|CODING|ENST00000366975||1),UPSTREAM(MODIFIER||2741||160|ENSG00000203705|protein_coding|CODING|ENST00000530399||1),UPSTREAM(MODIFIER||2928|||ENSG00000203705|processed_transcript|CODING|ENST00000525569||1),UPSTREAM(MODIFIER||3043|||ENSG00000203705|processed_transcript|CODING|ENST00000530392||1),UPSTREAM(MODIFIER||327|||ENSG00000117697|processed_transcript|CODING|ENST00000473995||1),UPSTREAM(MODIFIER||361||75|ENSG00000117697|protein_coding|CODING|ENST00000366978||1),UPSTREAM(MODIFIER||981|||ENSG00000203705|processed_transcript|CODING|ENST00000497768||1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=-3.62;dbNSFP_1000Gp1_ASN_AF=0.1555944055944056;dbNSFP_Ensembl_geneid=ENSG00000203705;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=89;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=9.1104;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=0.999958;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=48;dbNSFP_ESP6500_EA_AF=0.153605;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=0.064:0.5664:0.1779:0.1917;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=0.13259668508287292;dbNSFP_GERP++_NR=5.24;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=-0.757000;dbNSFP_genename=TATDN3;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=rs61736926;dbNSFP_SIFT_pred=.;dbNSFP_aapos=7;dbNSFP_1000Gp1_AFR_AF=0.43902439024390244;dbNSFP_1000Gp1_AFR_AC=216;dbNSFP_refcodon=CTT;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=469;dbNSFP_1000Gp1_AF=0.21474358974358973;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=ENST00000488246;dbNSFP_ESP6500_AA_AF=0.362171;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=G;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=0.15303430079155672;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=116	GT:AD:DP:GQ:PL	0/1:81,91:172:99:3035,0,2533
chr1	220970028	rs2642438	A	G	19448.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=873;Dels=0.00;FS=0.000;HaplotypeScore=5.9923;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=22.28;SB=-1.518e+04;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000186205|processed_transcript|CODING|ENST00000496110|2|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||337|ENSG00000186205|protein_coding|CODING|ENST00000366910|1|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||337|ENSG00000186205|protein_coding|CODING|ENST00000366910|2|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||337|ENSG00000186205|protein_coding|CODING|ENST00000366910|3|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||337|ENSG00000186205|protein_coding|CODING|ENST00000366910|4|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||337|ENSG00000186205|protein_coding|CODING|ENST00000366910|5|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||337|ENSG00000186205|protein_coding|CODING|ENST00000366910|6|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||337|ENSG00000186205|protein_coding|CODING|ENST00000366910|7|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|p.Thr165Ala/c.493A>G|337|ENSG00000186205|protein_coding|CODING|ENST00000366910|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acc/Gcc|p.Thr73Ala/c.217A>G|262|ENSG00000186205|protein_coding|CODING|ENST00000407981|2|1|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1076|||ENSG00000186205|processed_transcript|CODING|ENST00000472269||1),UPSTREAM(MODIFIER||67|||ENSG00000186205|nonsense_mediated_decay|CODING|ENST00000463976||1),UPSTREAM(MODIFIER||69||119|ENSG00000186205|protein_coding|CODING|ENST00000443880||1);dbNSFP_FATHMM_score_converted=.,0.3238700037355249;dbNSFP_GERP++_RS=3.91;dbNSFP_1000Gp1_ASN_AF=0.8076923076923077;dbNSFP_Ensembl_geneid=ENSG00000186205;dbNSFP_FATHMM_score=.,1.97;dbNSFP_1000Gp1_ASN_AC=462;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=10.9167;dbNSFP_FATHMM_pred=.,T;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=-1.99;dbNSFP_1000Gp1_AMR_AC=277;dbNSFP_ESP6500_EA_AF=0.703256;dbNSFP_LRT_pred=.,N;dbNSFP_29way_pi=0.1551:0.0:0.8449:0.0;dbNSFP_LRT_Omega=.,0.095001;dbNSFP_1000Gp1_AMR_AF=0.7651933701657458;dbNSFP_GERP++_NR=4.82;dbNSFP_Interpro_domain=.,MOSC|_N-terminal_beta_barrel_(1)|Pyruvate_kinase-like|_insert_domain_(1)|;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=.,0.000500;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=.,0.99975;dbNSFP_phyloP=0.466000;dbNSFP_genename=MOSC1;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.,0.0;dbNSFP_Uniprot_acc=.,Q5VT66-2|Q5VT66;dbNSFP_codonpos=2,1;dbNSFP_Polyphen2_HDIV_score=.,0.0|0.0;dbNSFP_UniSNP_ids=rs2642438|rs17649336|rs17845269|rs17858100|rs52817751|rs61416577|rs2642438;dbNSFP_SIFT_pred=.,T;dbNSFP_aapos=73,165;dbNSFP_1000Gp1_AFR_AF=0.9349593495934959;dbNSFP_1000Gp1_AFR_AC=460;dbNSFP_refcodon=CAC,ACC;dbNSFP_Uniprot_aapos=.,165|165;dbNSFP_1000Gp1_AC=1764;dbNSFP_1000Gp1_AF=0.8076923076923077;dbNSFP_SIFT_score=.,1.000000;dbNSFP_Uniprot_id=.,.|MOSC1_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000407981,ENST00000366910;dbNSFP_ESP6500_AA_AF=0.919882;dbNSFP_Polyphen2_HVAR_score=.,0.0|0.001;dbNSFP_Ancestral_allele=G;dbNSFP_Polyphen2_HDIV_pred=.,B|B;dbNSFP_1000Gp1_EUR_AF=0.7453825857519789;dbNSFP_Polyphen2_HVAR_pred=.,B|B;dbNSFP_MutationAssessor_score_converted=0.30859375;dbNSFP_1000Gp1_EUR_AC=565	GT:AD:DP:GQ:PL	1/1:0,870:873:99:19448,1339,0
chr1	226555302	rs1136410	A	G	3069.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-6.513;DB;DP=299;Dels=0.00;FS=11.488;HaplotypeScore=1.9621;MLEAC=1;MLEAF=0.500;MQ=43.95;MQ0=0;MQRankSum=-0.478;QD=10.26;ReadPosRankSum=-1.450;SB=-4.950e+02;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000143799|processed_transcript|CODING|ENST00000490921|3|1),EXON(MODIFIER|||||ENSG00000143799|processed_transcript|CODING|ENST00000498787|3|1),NEXT_PROT[domain:PARP_alpha-helical](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|14|1),NEXT_PROT[domain:PARP_alpha-helical](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|15|1),NEXT_PROT[domain:PARP_alpha-helical](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|16|1),NEXT_PROT[domain:PARP_alpha-helical](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|17|1),NEXT_PROT[helix](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|16|1),NEXT_PROT[helix](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|17|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|p.Val762Ala/c.2285T>C|1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|17|1),UPSTREAM(MODIFIER||3229|||ENSG00000143799|processed_transcript|CODING|ENST00000463968||1),UPSTREAM(MODIFIER||4441|||ENSG00000143799|processed_transcript|CODING|ENST00000468608||1);dbNSFP_FATHMM_score_converted=0.29697422487859537;dbNSFP_GERP++_RS=5.56;dbNSFP_1000Gp1_ASN_AF=0.4562937062937063;dbNSFP_Ensembl_geneid=ENSG00000143799;dbNSFP_FATHMM_score=2.69;dbNSFP_1000Gp1_ASN_AC=261;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=15.7086;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=1e-37;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=2.11;dbNSFP_1000Gp1_AMR_AC=119;dbNSFP_ESP6500_EA_AF=0.159419;dbNSFP_LRT_pred=D;dbNSFP_29way_pi=1.0:0.0:0.0:0.0;dbNSFP_LRT_Omega=0.000000;dbNSFP_1000Gp1_AMR_AF=0.3287292817679558;dbNSFP_GERP++_NR=5.56;dbNSFP_Interpro_domain=Poly(ADP-ribose)_polymerase|_regulatory_domain_(4)|;dbNSFP_MutationAssessor_pred=M;dbNSFP_LRT_score=0.000000;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=1.0;dbNSFP_phyloP=2.122000;dbNSFP_genename=PARP1;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.76;dbNSFP_Uniprot_acc=P09874;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=0.728;dbNSFP_UniSNP_ids=rs1136410|rs1805412|rs3199701|rs11541665|rs16845751|rs17853760|rs59953823|rs1136410;dbNSFP_SIFT_pred=T;dbNSFP_aapos=762;dbNSFP_1000Gp1_AFR_AF=0.054878048780487805;dbNSFP_1000Gp1_AFR_AC=27;dbNSFP_refcodon=GTG;dbNSFP_Uniprot_aapos=762;dbNSFP_1000Gp1_AC=533;dbNSFP_1000Gp1_AF=0.24404761904761904;dbNSFP_SIFT_score=0.240000;dbNSFP_Uniprot_id=PARP1_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000366794;dbNSFP_ESP6500_AA_AF=0.052882;dbNSFP_Polyphen2_HVAR_score=0.731;dbNSFP_Ancestral_allele=A;dbNSFP_Polyphen2_HDIV_pred=P;dbNSFP_1000Gp1_EUR_AF=0.1662269129287599;dbNSFP_Polyphen2_HVAR_pred=P;dbNSFP_MutationAssessor_score_converted=0.6644965277777778;dbNSFP_1000Gp1_EUR_AC=126	GT:AD:DP:GQ:PL	0/1:183,116:299:99:3099,0,5146
chr1	226570840	rs1805415	T	C	5299.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-8.672;DB;DP=284;Dels=0.00;FS=1.317;HaplotypeScore=0.9999;MLEAC=1;MLEAF=0.500;MQ=43.68;MQ0=0;MQRankSum=1.031;QD=18.66;ReadPosRankSum=-0.230;SB=-1.250e+02;set=variant37;EFF=NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|1|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|2|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|3|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|4|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|5|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|6|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|7|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|8|1),SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|p.Lys352Lys/c.1056A>G|1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|8|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:133,151:284:99:5299,0,4780
chr1	226573364	rs1805414	A	G	21970.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=822;Dels=0.00;FS=0.000;HaplotypeScore=4.7745;MLEAC=2;MLEAF=1.00;MQ=30.13;MQ0=0;QD=26.73;SB=-8.799e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||3035|||ENSG00000143799|processed_transcript|CODING|ENST00000469663||1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|1|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|2|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|3|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|4|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|5|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|6|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|7|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|8|1),NEXT_PROT[helix](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|6|1),NEXT_PROT[helix](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|7|1),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|p.Ala284Ala/c.852T>C|1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|7|1)	GT:AD:DP:GQ:PL	1/1:0,822:822:99:21970,1619,0
chr1	226589958	rs1805404	G	A	7751.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-18.375;DB;DP=832;Dels=0.00;FS=0.000;HaplotypeScore=7.4839;MLEAC=1;MLEAF=0.500;MQ=33.25;MQ0=0;MQRankSum=-5.826;QD=9.32;ReadPosRankSum=-0.602;SB=-4.389e+03;set=variant37;EFF=NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|1|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|2|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|3|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|4|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|5|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|6|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|7|1),NEXT_PROT[DNA-binding_region](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|8|1),NEXT_PROT[helix](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|2|1),NEXT_PROT[zinc_finger_region:PARP-type_1](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|1|1),NEXT_PROT[zinc_finger_region:PARP-type_1](LOW||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|2|1),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|p.Asp81Asp/c.243C>T|1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|2|1),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|p.Asp81Asp/c.243C>T|108|ENSG00000143799|protein_coding|CODING|ENST00000366791|2|1),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|p.Asp81Asp/c.243C>T|108|ENSG00000143799|protein_coding|CODING|ENST00000366792|2|1),SYNONYMOUS_CODING(LOW|SILENT|gaC/gaT|p.Asp81Asp/c.243C>T|155|ENSG00000143799|protein_coding|CODING|ENST00000366790|2|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:441,391:832:99:7751,0,9058
chr1	226595647	rs907187	C	G	306.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=0.171;DB;DP=27;Dels=0.00;FS=1.507;HaplotypeScore=0.8667;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.610;QD=11.33;ReadPosRankSum=0.415;SB=-1.790e+02;set=variant37;EFF=UTR_5_PRIME(MODIFIER||||1014|ENSG00000143799|protein_coding|CODING|ENST00000366794|1|1),UTR_5_PRIME(MODIFIER||||108|ENSG00000143799|protein_coding|CODING|ENST00000366791|1|1),UTR_5_PRIME(MODIFIER||||108|ENSG00000143799|protein_coding|CODING|ENST00000366792|1|1),UTR_5_PRIME(MODIFIER||||155|ENSG00000143799|protein_coding|CODING|ENST00000366790|1|1)	GT:AD:DP:GQ:PL	0/1:12,15:27:99:336,0,223
chr1	227174210	rs3738725	T	C	32767.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=2276;Dels=0.00;FS=0.000;HaplotypeScore=13.1267;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=14.40;SB=-3.277e+04;set=variant37;EFF=DOWNSTREAM(MODIFIER||3356||1638|ENSG00000143776|protein_coding|CODING|ENST00000366767||1),DOWNSTREAM(MODIFIER||3356||1719|ENSG00000143776|protein_coding|CODING|ENST00000366769||1),DOWNSTREAM(MODIFIER||3357||1691|ENSG00000143776|protein_coding|CODING|ENST00000366764||1),DOWNSTREAM(MODIFIER||3357||1754|ENSG00000143776|protein_coding|CODING|ENST00000366766||1),DOWNSTREAM(MODIFIER||3357||1781|ENSG00000143776|protein_coding|CODING|ENST00000334218||1),DOWNSTREAM(MODIFIER||3357||983|ENSG00000143776|protein_coding|CODING|ENST00000448940||1),EXON(MODIFIER|||||ENSG00000163050|processed_transcript|CODING|ENST00000478406|8|1),EXON(MODIFIER|||||ENSG00000163050|processed_transcript|CODING|ENST00000479852|7|1),EXON(MODIFIER|||||ENSG00000163050|processed_transcript|CODING|ENST00000485462|11|1),INTRON(MODIFIER|||||ENSG00000163050|processed_transcript|CODING|ENST00000464693|3|1),INTRON(MODIFIER|||||ENSG00000163050|processed_transcript|CODING|ENST00000490782|3|1),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|p.Ser246Ser/c.738T>C|321|ENSG00000163050|protein_coding|CODING|ENST00000433743|11|1),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|p.Ser293Ser/c.879T>C|368|ENSG00000163050|protein_coding|CODING|ENST00000458507|12|1),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|p.Ser417Ser/c.1251T>C|492|ENSG00000163050|protein_coding|CODING|ENST00000366775|15|1),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|p.Ser497Ser/c.1491T>C|572|ENSG00000163050|protein_coding|CODING|ENST00000366776|15|1),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|p.Ser520Ser/c.1560T>C|595|ENSG00000163050|protein_coding|CODING|ENST00000366778|15|1),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|p.Ser572Ser/c.1716T>C|647|ENSG00000163050|protein_coding|CODING|ENST00000366777|15|1),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|p.Ser572Ser/c.1716T>C|647|ENSG00000163050|protein_coding|CODING|ENST00000366779|20|1)	GT:AD:DP:GQ:PL	1/1:0,2276:2276:99:32767,3510,0
chr1	227182575	rs1045247	A	G	18912.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=762;Dels=0.00;FS=0.000;HaplotypeScore=1.8332;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=24.82;SB=-1.354e+04;set=variant37;EFF=DOWNSTREAM(MODIFIER||1668|||ENSG00000233706|antisense|NON_CODING|ENST00000433837||1),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|p.Ser1578Ser/c.4734T>C|1638|ENSG00000143776|protein_coding|CODING|ENST00000366767|34|1),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|p.Ser1631Ser/c.4893T>C|1691|ENSG00000143776|protein_coding|CODING|ENST00000366764|34|1),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|p.Ser1639Ser/c.4917T>C|1699|ENSG00000143776|protein_coding|CODING|ENST00000535525|35|1),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|p.Ser1659Ser/c.4977T>C|1719|ENSG00000143776|protein_coding|CODING|ENST00000366769|35|1),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|p.Ser1672Ser/c.5016T>C|1732|ENSG00000143776|protein_coding|CODING|ENST00000366765|36|1),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|p.Ser1694Ser/c.5082T>C|1754|ENSG00000143776|protein_coding|CODING|ENST00000366766|36|1),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|p.Ser1721Ser/c.5163T>C|1781|ENSG00000143776|protein_coding|CODING|ENST00000334218|36|1),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|p.Ser923Ser/c.2769T>C|983|ENSG00000143776|protein_coding|CODING|ENST00000448940|20|1|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|tcT/tcC|p.Ser987Ser/c.2961T>C|1047|ENSG00000143776|protein_coding|CODING|ENST00000442054|22|1|WARNING_TRANSCRIPT_NO_START_CODON);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=-9.9;dbNSFP_1000Gp1_ASN_AF=0.8321678321678322;dbNSFP_Ensembl_geneid=ENSG00000143776;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=476;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=1.4792;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=4.84246e-11;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=298;dbNSFP_ESP6500_EA_AF=0.810349;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=0.4307:0.131:0.1462:0.2921;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=0.8232044198895028;dbNSFP_GERP++_NR=4.95;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=-3.340000;dbNSFP_genename=CDC42BPA;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=rs1045247|rs17593204|rs57589335|rs1045247;dbNSFP_SIFT_pred=.;dbNSFP_aapos=924|988;dbNSFP_1000Gp1_AFR_AF=0.9715447154471545;dbNSFP_1000Gp1_AFR_AC=478;dbNSFP_refcodon=TGG;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=1877;dbNSFP_1000Gp1_AF=0.8594322344322345;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=ENST00000448940|ENST00000442054;dbNSFP_ESP6500_AA_AF=0.943713;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=g;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=0.8245382585751979;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=625	GT:AD:DP:GQ:PL	1/1:0,762:762:99:18912,1336,0
chr1	227504794	rs11804613	T	C	15699.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-3.511;DB;DP=1606;Dels=0.00;FS=0.000;HaplotypeScore=15.5375;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=1.429;QD=9.78;ReadPosRankSum=-1.637;SB=-1.216e+04;set=variant37;EFF=SYNONYMOUS_CODING(LOW|SILENT|acA/acG|p.Thr30Thr/c.90A>G|1638|ENSG00000143776|protein_coding|CODING|ENST00000366767|1|1),SYNONYMOUS_CODING(LOW|SILENT|acA/acG|p.Thr30Thr/c.90A>G|1691|ENSG00000143776|protein_coding|CODING|ENST00000366764|1|1),SYNONYMOUS_CODING(LOW|SILENT|acA/acG|p.Thr30Thr/c.90A>G|1699|ENSG00000143776|protein_coding|CODING|ENST00000535525|1|1),SYNONYMOUS_CODING(LOW|SILENT|acA/acG|p.Thr30Thr/c.90A>G|1719|ENSG00000143776|protein_coding|CODING|ENST00000366769|1|1),SYNONYMOUS_CODING(LOW|SILENT|acA/acG|p.Thr30Thr/c.90A>G|1732|ENSG00000143776|protein_coding|CODING|ENST00000366765|1|1),SYNONYMOUS_CODING(LOW|SILENT|acA/acG|p.Thr30Thr/c.90A>G|1754|ENSG00000143776|protein_coding|CODING|ENST00000366766|1|1),SYNONYMOUS_CODING(LOW|SILENT|acA/acG|p.Thr30Thr/c.90A>G|1781|ENSG00000143776|protein_coding|CODING|ENST00000334218|1|1),UPSTREAM(MODIFIER||46|||ENSG00000143776|retained_intron|CODING|ENST00000478573||1)	GT:AD:DP:GQ:PL	0/1:799,807:1606:99:15699,0,15536
chr1	228353832	.	G	T	15.15	LowQual	AC=2;AF=1.00;AN=2;DP=2;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=7.57;SB=-4.101e+01;set=FilteredInAll;EFF=SYNONYMOUS_CODING(LOW|SILENT|cgG/cgT|p.Arg105Arg/c.315G>T|356|ENSG00000181873|protein_coding|CODING|ENST00000366711|1|1),UPSTREAM(MODIFIER||1283|||ENSG00000203684|processed_transcript|CODING|ENST00000496552||1),UPSTREAM(MODIFIER||619||110|ENSG00000203684|protein_coding|CODING|ENST00000366713||1)	GT:AD:DP:GQ:PL	1/1:0,2:2:3:45,3,0
chr1	228362682	rs2298014	G	A	2699.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-6.319;DB;DP=152;Dels=0.00;FS=0.000;HaplotypeScore=4.0339;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-1.034;QD=17.76;ReadPosRankSum=1.052;SB=-4.380e+02;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000181873|processed_transcript|CODING|ENST00000484749|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|p.Gly18Ser/c.52G>A|163|ENSG00000181873|protein_coding|CODING|ENST00000546123|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggc/Agc|p.Gly211Ser/c.631G>A|356|ENSG00000181873|protein_coding|CODING|ENST00000366711|2|1);dbNSFP_FATHMM_score_converted=0.4295853567426223;dbNSFP_GERP++_RS=1.69;dbNSFP_1000Gp1_ASN_AF=0.055944055944055944;dbNSFP_Ensembl_geneid=ENSG00000181873;dbNSFP_FATHMM_score=-0.86;dbNSFP_1000Gp1_ASN_AC=32;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=3.9045;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=1.3;dbNSFP_1000Gp1_AMR_AC=105;dbNSFP_ESP6500_EA_AF=0.344872;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.2665:0.0:0.5435:0.19;dbNSFP_LRT_Omega=0.415911;dbNSFP_1000Gp1_AMR_AF=0.2900552486187845;dbNSFP_GERP++_NR=4.89;dbNSFP_Interpro_domain=Glycine_cleavage_T-protein|_N-terminal_(1)|;dbNSFP_MutationAssessor_pred=L;dbNSFP_LRT_score=0.016538;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.991731;dbNSFP_phyloP=0.622000;dbNSFP_genename=IBA57;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.17000000000000004;dbNSFP_Uniprot_acc=Q5T440;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.003;dbNSFP_UniSNP_ids=rs2298014;dbNSFP_SIFT_pred=T;dbNSFP_aapos=211|18;dbNSFP_1000Gp1_AFR_AF=0.032520325203252036;dbNSFP_1000Gp1_AFR_AC=16;dbNSFP_refcodon=GGC;dbNSFP_Uniprot_aapos=211;dbNSFP_1000Gp1_AC=402;dbNSFP_1000Gp1_AF=0.18406593406593408;dbNSFP_SIFT_score=0.830000;dbNSFP_Uniprot_id=CAF17_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000366711|ENST00000546123;dbNSFP_ESP6500_AA_AF=0.085005;dbNSFP_Polyphen2_HVAR_score=0.007;dbNSFP_Ancestral_allele=G;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.32849604221635886;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=0.5941840277777778;dbNSFP_1000Gp1_EUR_AC=249	GT:AD:DP:GQ:PL	0/1:71,81:152:99:2729,0,2389
chr1	231401902	rs574553	G	A	12113.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=487;Dels=0.00;FS=0.000;HaplotypeScore=9.5113;MLEAC=2;MLEAF=1.00;MQ=43.97;MQ0=0;QD=24.87;SB=-8.418e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||65||221|ENSG00000116906|protein_coding|CODING|ENST00000436239||1),EXON(MODIFIER|||||ENSG00000116906|processed_transcript|CODING|ENST00000492459|1|1),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|p.Glu244Glu/c.732G>A|619|ENSG00000116906|protein_coding|CODING|ENST00000366646|6|1),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|p.Glu295Glu/c.885G>A|586|ENSG00000116906|protein_coding|CODING|ENST00000416000|7|1),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|p.Glu305Glu/c.915G>A|680|ENSG00000116906|protein_coding|CODING|ENST00000366647|7|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	1/1:0,485:487:99:12113,834,0
chr1	231408091	rs11558492	A	G	8709.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=19.141;DB;DP=644;Dels=0.00;FS=3.216;HaplotypeScore=8.8112;MLEAC=1;MLEAF=0.500;MQ=40.76;MQ0=0;MQRankSum=-4.757;QD=13.52;ReadPosRankSum=2.380;SB=-5.845e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||2289|||ENSG00000116906|processed_transcript|CODING|ENST00000492459||1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gGt|p.Asp458Gly/c.1373A>G|619|ENSG00000116906|protein_coding|CODING|ENST00000366646|10|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gGt|p.Asp509Gly/c.1526A>G|586|ENSG00000116906|protein_coding|CODING|ENST00000416000|11|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gGt|p.Asp519Gly/c.1556A>G|680|ENSG00000116906|protein_coding|CODING|ENST00000366647|11|1),UPSTREAM(MODIFIER||2551|||ENSG00000116906|processed_transcript|CODING|ENST00000469332||1);dbNSFP_FATHMM_score_converted=0.40156892043332093;dbNSFP_GERP++_RS=-0.263;dbNSFP_1000Gp1_ASN_AF=0.10314685314685315;dbNSFP_Ensembl_geneid=ENSG00000116906;dbNSFP_FATHMM_score=-0.11;dbNSFP_1000Gp1_ASN_AC=59;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=9.158;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=0.99788;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=1.04;dbNSFP_1000Gp1_AMR_AC=71;dbNSFP_ESP6500_EA_AF=0.205814;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.6427:0.0:0.3573:0.0;dbNSFP_LRT_Omega=0.487719;dbNSFP_1000Gp1_AMR_AF=0.19613259668508287;dbNSFP_GERP++_NR=4.71;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=L;dbNSFP_LRT_score=0.037281;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.9813595;dbNSFP_phyloP=-0.134000;dbNSFP_genename=GNPAT;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.95;dbNSFP_Uniprot_acc=B4DNM9|O15228;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=0.075|0.019;dbNSFP_UniSNP_ids=rs11558492|rs17387913|rs52834016|rs59486675|rs11558492;dbNSFP_SIFT_pred=T;dbNSFP_aapos=519|458|509;dbNSFP_1000Gp1_AFR_AF=0.07520325203252033;dbNSFP_1000Gp1_AFR_AC=37;dbNSFP_refcodon=GAT;dbNSFP_Uniprot_aapos=458|519;dbNSFP_1000Gp1_AC=313;dbNSFP_1000Gp1_AF=0.1433150183150183;dbNSFP_SIFT_score=0.050000;dbNSFP_Uniprot_id=.|GNPAT_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000366647|ENST00000366646|ENST00000416000;dbNSFP_ESP6500_AA_AF=0.091693;dbNSFP_Polyphen2_HVAR_score=0.034|0.028;dbNSFP_Ancestral_allele=A;dbNSFP_Polyphen2_HDIV_pred=B|B;dbNSFP_1000Gp1_EUR_AF=0.19261213720316622;dbNSFP_Polyphen2_HVAR_pred=B|B;dbNSFP_MutationAssessor_score_converted=0.5716145833333334;dbNSFP_1000Gp1_EUR_AC=146	GT:AD:DP:GQ:PL	0/1:301,343:644:99:8709,0,7982
chr1	231830295	rs3738401	G	A	4192.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=110;Dels=0.00;FS=0.000;HaplotypeScore=2.8189;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=38.11;SB=-2.174e+03;set=variant37;EFF=DOWNSTREAM(MODIFIER||614|||ENSG00000162946|processed_transcript|CODING|ENST00000602600||1),EXON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000295051|2|1),EXON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000366632|2|1),EXON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000535944|2|1),EXON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000602700|2|1),EXON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000602713|2|1),EXON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000602822|2|1),EXON(MODIFIER|||||ENSG00000162946|retained_intron|CODING|ENST00000468399|2|1),INTRON(MODIFIER||||201|ENSG00000162946|protein_coding|CODING|ENST00000602873|1|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||369|ENSG00000162946|protein_coding|CODING|ENST00000317586|1|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||369|ENSG00000162946|protein_coding|CODING|ENST00000317586|2|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||559|ENSG00000162946|protein_coding|CODING|ENST00000537876|1|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||559|ENSG00000162946|protein_coding|CODING|ENST00000537876|2|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||579|ENSG00000162946|protein_coding|CODING|ENST00000539444|1|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||579|ENSG00000162946|protein_coding|CODING|ENST00000539444|2|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||662|ENSG00000162946|protein_coding|CODING|ENST00000602281|1|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||662|ENSG00000162946|protein_coding|CODING|ENST00000602281|2|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||678|ENSG00000162946|protein_coding|CODING|ENST00000366636|1|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||678|ENSG00000162946|protein_coding|CODING|ENST00000366636|2|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||695|ENSG00000162946|protein_coding|CODING|ENST00000535983|1|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||695|ENSG00000162946|protein_coding|CODING|ENST00000535983|2|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||755|ENSG00000162946|protein_coding|CODING|ENST00000366633|1|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||755|ENSG00000162946|protein_coding|CODING|ENST00000366633|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|369|ENSG00000162946|protein_coding|CODING|ENST00000317586|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|559|ENSG00000162946|protein_coding|CODING|ENST00000537876|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|579|ENSG00000162946|protein_coding|CODING|ENST00000539444|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|662|ENSG00000162946|protein_coding|CODING|ENST00000602281|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|678|ENSG00000162946|protein_coding|CODING|ENST00000366636|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|695|ENSG00000162946|protein_coding|CODING|ENST00000535983|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|755|ENSG00000162946|protein_coding|CODING|ENST00000366633|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|p.Arg264Gln/c.791G>A|854|ENSG00000162946|protein_coding|CODING|ENST00000439617|2|1),UTR_3_PRIME(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000422590|2|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602567|7|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602634|6|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602885|4|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602956|6|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602962|7|1),UTR_5_PRIME(MODIFIER||||164|ENSG00000162946|protein_coding|CODING|ENST00000366637|2|1);dbNSFP_FATHMM_score_converted=0.32872618602913717;dbNSFP_GERP++_RS=-9.87;dbNSFP_1000Gp1_ASN_AF=0.256993006993007;dbNSFP_Ensembl_geneid=ENSG00000162946;dbNSFP_FATHMM_score=1.84;dbNSFP_1000Gp1_ASN_AC=147;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=1.7516;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=-0.895;dbNSFP_1000Gp1_AMR_AC=142;dbNSFP_ESP6500_EA_AF=0.317907;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.1374:0.1906:0.3457:0.3262;dbNSFP_LRT_Omega=1.746570;dbNSFP_1000Gp1_AMR_AF=0.39226519337016574;dbNSFP_GERP++_NR=4.94;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.092507;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.0462535;dbNSFP_phyloP=-3.304000;dbNSFP_genename=DISC1;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.6599999999999999;dbNSFP_Uniprot_acc=C4P094|C4P0A3|C4P098|C4P0A1|C4P0A4|A6NLH2|C4P0A5|C4P095|C4P0B6|C4P0C4|C4P091|C4P0D2|C4P0D3|C4P0B1|Q5T409|C4P0D0|Q9NRI5-2|Q9NRI5|Q9NRI5-3|Q9NRI5-4;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=0.001|0.025|0.068|0.012|0.009|0.181|0.025|0.068|0.009|0.025|0.001|0.004|0.002|0.025|0.026|0.004|0.026|0.026|0.009|0.001;dbNSFP_UniSNP_ids=rs3738401|rs52831689|rs57749630|rs3738401;dbNSFP_SIFT_pred=T;dbNSFP_aapos=264|264|264|264|264|264|264|264|264|264|264|264|115;dbNSFP_1000Gp1_AFR_AF=0.13821138211382114;dbNSFP_1000Gp1_AFR_AC=68;dbNSFP_refcodon=CGG;dbNSFP_Uniprot_aapos=264|264|264|264|264|264|264|264|264|264|264|264|264|264|264|264|264|264|264|264;dbNSFP_1000Gp1_AC=612;dbNSFP_1000Gp1_AF=0.2802197802197802;dbNSFP_SIFT_score=0.340000;dbNSFP_Uniprot_id=.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|.|DISC1_HUMAN|.|.;dbNSFP_Ensembl_transcriptid=ENST00000439617|ENST00000366637|ENST00000317586|ENST00000366636|ENST00000366638|ENST00000532576|ENST00000535983|ENST00000537876|ENST00000366633|ENST00000539444|ENST00000295051|ENST00000535944|ENST00000366632;dbNSFP_ESP6500_AA_AF=0.147072;dbNSFP_Polyphen2_HVAR_score=0.001|0.007|0.007|0.007|0.004|0.007|0.007|0.007|0.004|0.007|0.0|0.004|0.001|0.007|0.004|0.002|0.004|0.004|0.004|0.0;dbNSFP_Ancestral_allele=G;dbNSFP_Polyphen2_HDIV_pred=B|B|B|B|B|B|B|B|B|B|B|B|B|B|B|B|B|B|B|B;dbNSFP_1000Gp1_EUR_AF=0.33641160949868076;dbNSFP_Polyphen2_HVAR_pred=B|B|B|B|B|B|B|B|B|B|B|B|B|B|B|B|B|B|B|B;dbNSFP_MutationAssessor_score_converted=0.40364583333333337;dbNSFP_1000Gp1_EUR_AC=255	GT:AD:DP:GQ:PL	1/1:0,110:110:99:4192,310,0
chr1	231830344	rs138228295	C	T	1647.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=5.376;DB;DP=101;Dels=0.00;FS=0.748;HaplotypeScore=0.7340;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.629;QD=16.31;ReadPosRankSum=0.228;SB=-8.390e+02;set=variant37;EFF=DOWNSTREAM(MODIFIER||663|||ENSG00000162946|processed_transcript|CODING|ENST00000602600||1),EXON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000295051|2|1),EXON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000366632|2|1),EXON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000535944|2|1),EXON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000602700|2|1),EXON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000602713|2|1),EXON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000602822|2|1),EXON(MODIFIER|||||ENSG00000162946|retained_intron|CODING|ENST00000468399|2|1),INTRON(MODIFIER||||201|ENSG00000162946|protein_coding|CODING|ENST00000602873|1|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||369|ENSG00000162946|protein_coding|CODING|ENST00000317586|1|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||369|ENSG00000162946|protein_coding|CODING|ENST00000317586|2|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||559|ENSG00000162946|protein_coding|CODING|ENST00000537876|1|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||559|ENSG00000162946|protein_coding|CODING|ENST00000537876|2|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||579|ENSG00000162946|protein_coding|CODING|ENST00000539444|1|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||579|ENSG00000162946|protein_coding|CODING|ENST00000539444|2|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||662|ENSG00000162946|protein_coding|CODING|ENST00000602281|1|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||662|ENSG00000162946|protein_coding|CODING|ENST00000602281|2|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||678|ENSG00000162946|protein_coding|CODING|ENST00000366636|1|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||678|ENSG00000162946|protein_coding|CODING|ENST00000366636|2|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||695|ENSG00000162946|protein_coding|CODING|ENST00000535983|1|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||695|ENSG00000162946|protein_coding|CODING|ENST00000535983|2|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||755|ENSG00000162946|protein_coding|CODING|ENST00000366633|1|1),NEXT_PROT[interacting_region:Interaction_with_MAP1A](LOW||||755|ENSG00000162946|protein_coding|CODING|ENST00000366633|2|1),START_GAINED(LOW||||164|ENSG00000162946|protein_coding|CODING|ENST00000366637|2|1),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|p.Ala280Ala/c.840C>T|369|ENSG00000162946|protein_coding|CODING|ENST00000317586|2|1),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|p.Ala280Ala/c.840C>T|559|ENSG00000162946|protein_coding|CODING|ENST00000537876|2|1),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|p.Ala280Ala/c.840C>T|579|ENSG00000162946|protein_coding|CODING|ENST00000539444|2|1),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|p.Ala280Ala/c.840C>T|662|ENSG00000162946|protein_coding|CODING|ENST00000602281|2|1),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|p.Ala280Ala/c.840C>T|678|ENSG00000162946|protein_coding|CODING|ENST00000366636|2|1),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|p.Ala280Ala/c.840C>T|695|ENSG00000162946|protein_coding|CODING|ENST00000535983|2|1),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|p.Ala280Ala/c.840C>T|755|ENSG00000162946|protein_coding|CODING|ENST00000366633|2|1),SYNONYMOUS_CODING(LOW|SILENT|gcC/gcT|p.Ala280Ala/c.840C>T|854|ENSG00000162946|protein_coding|CODING|ENST00000439617|2|1),UTR_3_PRIME(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000422590|2|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602567|7|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602634|6|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602885|4|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602956|6|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602962|7|1)	GT:AD:DP:GQ:PL	0/1:48,53:101:99:1677,0,1421
chr1	231903010	rs3738402	C	T	14918.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-11.407;DB;DP=1652;Dels=0.00;FS=0.356;HaplotypeScore=20.2032;MLEAC=1;MLEAF=0.500;MQ=41.48;MQ0=0;MQRankSum=-5.682;QD=9.03;ReadPosRankSum=2.330;SB=-1.192e+04;set=variant37;EFF=EXON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000295051|5|1),EXON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000535944|5|1),NEXT_PROT[coiled-coil_region](LOW||||201|ENSG00000162946|protein_coding|CODING|ENST00000602873|3|1),NEXT_PROT[coiled-coil_region](LOW||||201|ENSG00000162946|protein_coding|CODING|ENST00000602873|4|1),NEXT_PROT[coiled-coil_region](LOW||||559|ENSG00000162946|protein_coding|CODING|ENST00000537876|5|1),NEXT_PROT[coiled-coil_region](LOW||||559|ENSG00000162946|protein_coding|CODING|ENST00000537876|6|1),NEXT_PROT[coiled-coil_region](LOW||||579|ENSG00000162946|protein_coding|CODING|ENST00000539444|5|1),NEXT_PROT[coiled-coil_region](LOW||||579|ENSG00000162946|protein_coding|CODING|ENST00000539444|6|1),NEXT_PROT[coiled-coil_region](LOW||||662|ENSG00000162946|protein_coding|CODING|ENST00000602281|5|1),NEXT_PROT[coiled-coil_region](LOW||||662|ENSG00000162946|protein_coding|CODING|ENST00000602281|6|1),NEXT_PROT[coiled-coil_region](LOW||||678|ENSG00000162946|protein_coding|CODING|ENST00000366636|5|1),NEXT_PROT[coiled-coil_region](LOW||||678|ENSG00000162946|protein_coding|CODING|ENST00000366636|6|1),NEXT_PROT[coiled-coil_region](LOW||||695|ENSG00000162946|protein_coding|CODING|ENST00000535983|5|1),NEXT_PROT[coiled-coil_region](LOW||||695|ENSG00000162946|protein_coding|CODING|ENST00000535983|6|1),NEXT_PROT[coiled-coil_region](LOW||||755|ENSG00000162946|protein_coding|CODING|ENST00000366633|5|1),NEXT_PROT[coiled-coil_region](LOW||||755|ENSG00000162946|protein_coding|CODING|ENST00000366633|6|1),NEXT_PROT[region_of_interest:Required_for_localization_to_punctate_cytoplasmic_foci](LOW||||662|ENSG00000162946|protein_coding|CODING|ENST00000602281|5|1),NEXT_PROT[region_of_interest:Required_for_localization_to_punctate_cytoplasmic_foci](LOW||||662|ENSG00000162946|protein_coding|CODING|ENST00000602281|6|1),NEXT_PROT[region_of_interest:Required_for_localization_to_punctate_cytoplasmic_foci](LOW||||662|ENSG00000162946|protein_coding|CODING|ENST00000602281|7|1),NEXT_PROT[region_of_interest:Required_for_localization_to_punctate_cytoplasmic_foci](LOW||||662|ENSG00000162946|protein_coding|CODING|ENST00000602281|8|1),NEXT_PROT[region_of_interest:Required_for_localization_to_punctate_cytoplasmic_foci](LOW||||678|ENSG00000162946|protein_coding|CODING|ENST00000366636|5|1),NEXT_PROT[region_of_interest:Required_for_localization_to_punctate_cytoplasmic_foci](LOW||||678|ENSG00000162946|protein_coding|CODING|ENST00000366636|6|1),NEXT_PROT[region_of_interest:Required_for_localization_to_punctate_cytoplasmic_foci](LOW||||678|ENSG00000162946|protein_coding|CODING|ENST00000366636|7|1),NEXT_PROT[region_of_interest:Required_for_localization_to_punctate_cytoplasmic_foci](LOW||||678|ENSG00000162946|protein_coding|CODING|ENST00000366636|8|1),NEXT_PROT[region_of_interest:Required_for_localization_to_punctate_cytoplasmic_foci](LOW||||695|ENSG00000162946|protein_coding|CODING|ENST00000535983|5|1),NEXT_PROT[region_of_interest:Required_for_localization_to_punctate_cytoplasmic_foci](LOW||||695|ENSG00000162946|protein_coding|CODING|ENST00000535983|6|1),NEXT_PROT[region_of_interest:Required_for_localization_to_punctate_cytoplasmic_foci](LOW||||695|ENSG00000162946|protein_coding|CODING|ENST00000535983|7|1),NEXT_PROT[region_of_interest:Required_for_localization_to_punctate_cytoplasmic_foci](LOW||||695|ENSG00000162946|protein_coding|CODING|ENST00000535983|8|1),NEXT_PROT[region_of_interest:Required_for_localization_to_punctate_cytoplasmic_foci](LOW||||755|ENSG00000162946|protein_coding|CODING|ENST00000366633|5|1),NEXT_PROT[region_of_interest:Required_for_localization_to_punctate_cytoplasmic_foci](LOW||||755|ENSG00000162946|protein_coding|CODING|ENST00000366633|6|1),NEXT_PROT[region_of_interest:Required_for_localization_to_punctate_cytoplasmic_foci](LOW||||755|ENSG00000162946|protein_coding|CODING|ENST00000366633|7|1),NEXT_PROT[region_of_interest:Required_for_localization_to_punctate_cytoplasmic_foci](LOW||||755|ENSG00000162946|protein_coding|CODING|ENST00000366633|8|1),SYNONYMOUS_CODING(LOW|SILENT|Cta/Tta|p.Leu115Leu/c.343C>T|201|ENSG00000162946|protein_coding|CODING|ENST00000602873|3|1),SYNONYMOUS_CODING(LOW|SILENT|Cta/Tta|p.Leu465Leu/c.1393C>T|559|ENSG00000162946|protein_coding|CODING|ENST00000537876|5|1),SYNONYMOUS_CODING(LOW|SILENT|Cta/Tta|p.Leu465Leu/c.1393C>T|579|ENSG00000162946|protein_coding|CODING|ENST00000539444|5|1),SYNONYMOUS_CODING(LOW|SILENT|Cta/Tta|p.Leu465Leu/c.1393C>T|662|ENSG00000162946|protein_coding|CODING|ENST00000602281|5|1),SYNONYMOUS_CODING(LOW|SILENT|Cta/Tta|p.Leu465Leu/c.1393C>T|678|ENSG00000162946|protein_coding|CODING|ENST00000366636|5|1),SYNONYMOUS_CODING(LOW|SILENT|Cta/Tta|p.Leu465Leu/c.1393C>T|695|ENSG00000162946|protein_coding|CODING|ENST00000535983|5|1),SYNONYMOUS_CODING(LOW|SILENT|Cta/Tta|p.Leu465Leu/c.1393C>T|755|ENSG00000162946|protein_coding|CODING|ENST00000366633|5|1),SYNONYMOUS_CODING(LOW|SILENT|Cta/Tta|p.Leu465Leu/c.1393C>T|854|ENSG00000162946|protein_coding|CODING|ENST00000439617|5|1),UTR_3_PRIME(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000366632|4|1),UTR_3_PRIME(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000422590|5|1),UTR_3_PRIME(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000602700|4|1),UTR_3_PRIME(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000602713|4|1),UTR_3_PRIME(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000602822|4|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602567|10|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602634|9|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602885|7|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602956|9|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602962|10|1),UTR_5_PRIME(MODIFIER||||164|ENSG00000162946|protein_coding|CODING|ENST00000366637|5|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:887,764:1652:99:14918,0,17629
chr1	231953994	rs6672782	C	G	4442.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-3.171;DB;DP=385;Dels=0.00;FS=1.665;HaplotypeScore=5.9314;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.292;QD=11.54;ReadPosRankSum=1.686;SB=-2.971e+03;set=variant37;EFF=INTRON(MODIFIER||||164|ENSG00000162946|protein_coding|CODING|ENST00000366637|8|1),INTRON(MODIFIER||||201|ENSG00000162946|protein_coding|CODING|ENST00000602873|4|1),INTRON(MODIFIER||||559|ENSG00000162946|protein_coding|CODING|ENST00000537876|6|1),INTRON(MODIFIER||||579|ENSG00000162946|protein_coding|CODING|ENST00000539444|7|1),INTRON(MODIFIER||||662|ENSG00000162946|protein_coding|CODING|ENST00000602281|8|1),INTRON(MODIFIER||||678|ENSG00000162946|protein_coding|CODING|ENST00000366636|8|1),INTRON(MODIFIER||||695|ENSG00000162946|protein_coding|CODING|ENST00000535983|8|1),INTRON(MODIFIER||||755|ENSG00000162946|protein_coding|CODING|ENST00000366633|8|1),INTRON(MODIFIER||||854|ENSG00000162946|protein_coding|CODING|ENST00000439617|8|1),INTRON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000295051|7|1),INTRON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000366632|7|1),INTRON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000422590|8|1),INTRON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000535944|9|1),INTRON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000602700|5|1),INTRON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000602713|7|1),INTRON(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000602822|7|1),INTRON(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602567|12|1),INTRON(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602634|12|1),INTRON(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602885|10|1),INTRON(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602956|12|1),INTRON(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602962|13|1),UPSTREAM(MODIFIER||657|||ENSG00000162946|processed_transcript|CODING|ENST00000427560||1)	GT:AD:DP:GQ:PL	0/1:183,202:385:99:4442,0,3789
chr1	231954101	rs6675281	C	T	16455.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=2.362;DB;DP=1393;Dels=0.00;FS=0.190;HaplotypeScore=16.8705;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.317;QD=11.81;ReadPosRankSum=-3.581;SB=-1.246e+04;set=variant37;EFF=INTRON(MODIFIER||||559|ENSG00000162946|protein_coding|CODING|ENST00000537876|6|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|p.Leu607Phe/c.1819C>T|662|ENSG00000162946|protein_coding|CODING|ENST00000602281|9|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|p.Leu607Phe/c.1819C>T|678|ENSG00000162946|protein_coding|CODING|ENST00000366636|9|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|p.Leu607Phe/c.1819C>T|695|ENSG00000162946|protein_coding|CODING|ENST00000535983|9|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|p.Leu607Phe/c.1819C>T|755|ENSG00000162946|protein_coding|CODING|ENST00000366633|9|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|p.Leu607Phe/c.1819C>T|854|ENSG00000162946|protein_coding|CODING|ENST00000439617|9|1),SYNONYMOUS_CODING(LOW|SILENT|acC/acT|p.Thr572Thr/c.1716C>T|579|ENSG00000162946|protein_coding|CODING|ENST00000539444|8|1),UPSTREAM(MODIFIER||550|||ENSG00000162946|processed_transcript|CODING|ENST00000427560||1),UTR_3_PRIME(MODIFIER||||201|ENSG00000162946|protein_coding|CODING|ENST00000602873|5|1),UTR_3_PRIME(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000295051|8|1),UTR_3_PRIME(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000366632|8|1),UTR_3_PRIME(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000422590|9|1),UTR_3_PRIME(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000535944|10|1),UTR_3_PRIME(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000602700|6|1),UTR_3_PRIME(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000602713|8|1),UTR_3_PRIME(MODIFIER|||||ENSG00000162946|nonsense_mediated_decay|CODING|ENST00000602822|8|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602567|13|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602634|13|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602885|11|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602956|13|1),UTR_3_PRIME(MODIFIER|||||ENSG00000270106|nonsense_mediated_decay|NON_CODING|ENST00000602962|14|1),UTR_5_PRIME(MODIFIER||||164|ENSG00000162946|protein_coding|CODING|ENST00000366637|9|1);dbNSFP_FATHMM_score_converted=0.32760552857676506;dbNSFP_GERP++_RS=4.32;dbNSFP_1000Gp1_ASN_AF=0.0;dbNSFP_Ensembl_geneid=ENSG00000162946;dbNSFP_FATHMM_score=1.87;dbNSFP_1000Gp1_ASN_AC=0;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=11.9831;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=2.17723e-19;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=29;dbNSFP_ESP6500_EA_AF=0.141628;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.0:0.9205:0.0:0.0795;dbNSFP_LRT_Omega=0.178636;dbNSFP_1000Gp1_AMR_AF=0.08011049723756906;dbNSFP_GERP++_NR=5.23;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=0.002514;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.998743;dbNSFP_phyloP=1.425000;dbNSFP_genename=DISC1;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=1.0;dbNSFP_Uniprot_acc=C4P096|C4P094|E2QRA4|C4P0A3|C4P098|F5H1F1|C4P0A4|A6NLH2|C4P0B6|A7E2W8|Q5T409|Q9NRI5-2|Q9NRI5|Q9NRI5-3;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=1.0|0.994|1.0|0.994|1.0|0.986|0.994|1.0|1.0|1.0|0.994|1.0|0.986|1.0;dbNSFP_UniSNP_ids=rs6675281|rs52801396|rs59116826|rs6675281;dbNSFP_SIFT_pred=D;dbNSFP_aapos=607|607|607|639|485|607|607;dbNSFP_1000Gp1_AFR_AF=0.17073170731707318;dbNSFP_1000Gp1_AFR_AC=84;dbNSFP_refcodon=CTC;dbNSFP_Uniprot_aapos=639|485|639|607|607|485|607|607|607|607|607|607|607|607;dbNSFP_1000Gp1_AC=204;dbNSFP_1000Gp1_AF=0.09340659340659341;dbNSFP_SIFT_score=0.000000;dbNSFP_Uniprot_id=.|.|.|.|.|.|.|.|.|.|.|.|DISC1_HUMAN|.;dbNSFP_Ensembl_transcriptid=ENST00000439617|ENST00000366637|ENST00000366636|ENST00000366638|ENST00000532576|ENST00000535983|ENST00000366633;dbNSFP_ESP6500_AA_AF=0.177258;dbNSFP_Polyphen2_HVAR_score=0.999|0.799|0.999|0.683|0.999|0.799|0.683|0.999|0.999|0.999|0.683|0.999|0.683|0.999;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=D|D|D|D|D|D|D|D|D|D|D|D|D|D;dbNSFP_1000Gp1_EUR_AF=0.12005277044854881;dbNSFP_Polyphen2_HVAR_pred=D|P|D|P|D|P|P|D|D|D|P|D|P|D;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=91	GT:AD:DP:GQ:PL	0/1:686,707:1393:99:16455,0,15781
chr1	246714587	rs10754526	G	A	3171.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=1.613;DB;DP=174;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=1;MLEAF=0.500;MQ=43.89;MQ0=0;MQRankSum=-0.574;QD=18.22;ReadPosRankSum=-1.748;SB=-6.519e-03;set=variant37;EFF=SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|p.Pro241Pro/c.723C>T|396|ENSG00000162851|protein_coding|CODING|ENST00000366514|5|1),UTR_3_PRIME(MODIFIER||||137|ENSG00000162851|protein_coding|CODING|ENST00000544618|4|1)	GT:AD:DP:GQ:PL	0/1:84,90:174:99:3201,0,2918
chr1	246720798	rs3124071	G	A	32767.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=1606;Dels=0.00;FS=0.000;HaplotypeScore=8.4758;MLEAC=2;MLEAF=1.00;MQ=19.61;MQ0=0;QD=20.40;SB=-1.850e+04;set=variant37;EFF=INTRON(MODIFIER||||137|ENSG00000162851|protein_coding|CODING|ENST00000544618|2|1),SYNONYMOUS_CODING(LOW|SILENT|atC/atT|p.Ile147Ile/c.441C>T|396|ENSG00000162851|protein_coding|CODING|ENST00000366514|3|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	1/1:0,1606:1606:99:32767,2510,0
chr2	25194741	rs7593864	G	A	311.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=3.152;DB;DP=35;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.182;QD=8.89;ReadPosRankSum=-1.073;SB=-2.760e+02;set=variant29;EFF=EXON(MODIFIER|||||ENSG00000115137|nonsense_mediated_decay|CODING|ENST00000380809|1|1),INTRON(MODIFIER|||||ENSG00000224165|processed_transcript|NON_CODING|ENST00000421904|1|1),INTRON(MODIFIER|||||ENSG00000224165|processed_transcript|NON_CODING|ENST00000451291|1|1),SYNONYMOUS_CODING(LOW|SILENT|ccC/ccT|p.Pro11Pro/c.33C>T|273|ENSG00000115137|protein_coding|CODING|ENST00000264711|1|1),UPSTREAM(MODIFIER||13|||ENSG00000115137|retained_intron|CODING|ENST00000492985||1),UPSTREAM(MODIFIER||2395|||ENSG00000202479|snoRNA|NON_CODING|ENST00000365609||1),UPSTREAM(MODIFIER||254|||ENSG00000224165|processed_transcript|NON_CODING|ENST00000434897||1),UPSTREAM(MODIFIER||254|||ENSG00000224165|processed_transcript|NON_CODING|ENST00000445389||1),UPSTREAM(MODIFIER||256||202|ENSG00000115137|protein_coding|CODING|ENST00000534855||1),UPSTREAM(MODIFIER||256|||ENSG00000115137|processed_transcript|CODING|ENST00000468750||1),UPSTREAM(MODIFIER||256|||ENSG00000115137|processed_transcript|CODING|ENST00000494239||1),UPSTREAM(MODIFIER||259|||ENSG00000115137|processed_transcript|CODING|ENST00000468467||1),UPSTREAM(MODIFIER||2648|||ENSG00000237953|processed_pseudogene|NON_CODING|ENST00000458227||1),UPSTREAM(MODIFIER||272|||ENSG00000224165|processed_transcript|NON_CODING|ENST00000428614||1),UPSTREAM(MODIFIER||293|||ENSG00000224165|processed_transcript|NON_CODING|ENST00000422449||1),UPSTREAM(MODIFIER||311|||ENSG00000224165|processed_transcript|NON_CODING|ENST00000421842||1)	GT:AD:DP:GQ:PL	0/1:18,17:35:99:341,0,348
chr2	26477125	rs147970487	G	GACT	25753.0	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=4.465;DB;DP=1000;DS;FS=3.486;HaplotypeScore=185.9901;MLEAC=1;MLEAF=0.500;MQ=43.92;MQ0=0;MQRankSum=1.287;QD=25.75;RPA=1,2;RU=ACT;ReadPosRankSum=15.176;SB=-1.211e+04;STR;set=variant30;EFF=CODON_INSERTION(MODERATE||-/ACT|p.X2Thr/c.4*>+ACT|148|ENSG00000138029|protein_coding|CODING|ENST00000448743|2|1|WARNING_TRANSCRIPT_INCOMPLETE),CODON_INSERTION(MODERATE||-/ACT|p.X2Thr/c.4*>+ACT|174|ENSG00000138029|protein_coding|CODING|ENST00000425035|2|1|WARNING_TRANSCRIPT_INCOMPLETE),CODON_INSERTION(MODERATE||-/ACT|p.X2Thr/c.4*>+ACT|351|ENSG00000138029|protein_coding|CODING|ENST00000405867|2|1),CODON_INSERTION(MODERATE||-/ACT|p.X2Thr/c.4*>+ACT|459|ENSG00000138029|protein_coding|CODING|ENST00000537713|2|1),CODON_INSERTION(MODERATE||-/ACT|p.X2Thr/c.4*>+ACT|474|ENSG00000138029|protein_coding|CODING|ENST00000317799|2|1),CODON_INSERTION(MODERATE||-/ACT|p.X2Thr/c.4*>+ACT|83|ENSG00000138029|protein_coding|CODING|ENST00000412805|2|1|WARNING_TRANSCRIPT_INCOMPLETE),EXON(MODIFIER|||||ENSG00000138029|retained_intron|CODING|ENST00000479347|2|1),NEXT_PROT[transit_peptide:Mitochondrion](LOW||||474|ENSG00000138029|protein_coding|CODING|ENST00000317799|2|1),NEXT_PROT[transit_peptide:Mitochondrion](LOW||||474|ENSG00000138029|protein_coding|CODING|ENST00000317799|3|1),UTR_5_PRIME(MODIFIER||||452|ENSG00000138029|protein_coding|CODING|ENST00000545822|2|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:508,492:1000:99:25753,0,26690
chr2	44170849	rs115993634	T	C	8821.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-9.272;DB;DP=818;Dels=0.00;FS=4.077;HaplotypeScore=1.8938;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.333;QD=10.78;ReadPosRankSum=1.857;SB=-5.174e+03;set=variant29;EFF=DOWNSTREAM(MODIFIER||4716|||ENSG00000138095|retained_intron|CODING|ENST00000467058||1),NEXT_PROT[repeat:PPR_13](LOW||||1394|ENSG00000138095|protein_coding|CODING|ENST00000260665|23|1),NEXT_PROT[repeat:PPR_13](LOW||||1394|ENSG00000138095|protein_coding|CODING|ENST00000260665|24|1),SYNONYMOUS_CODING(LOW|SILENT|ccA/ccG|p.Pro827Pro/c.2481A>G|1394|ENSG00000138095|protein_coding|CODING|ENST00000260665|23|1)	GT:AD:DP:GQ:PL	0/1:422,396:818:99:8821,0,9337
chr2	44201376	rs4953042	T	C	2378.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-5.336;DB;DP=163;Dels=0.00;FS=1.523;HaplotypeScore=0.0000;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.195;QD=14.59;ReadPosRankSum=-0.035;SB=-1.480e+02;set=variant29;EFF=SYNONYMOUS_CODING(LOW|SILENT|caA/caG|p.Gln330Gln/c.990A>G|358|ENSG00000138095|protein_coding|CODING|ENST00000447246|9|1),SYNONYMOUS_CODING(LOW|SILENT|caA/caG|p.Gln356Gln/c.1068A>G|1394|ENSG00000138095|protein_coding|CODING|ENST00000260665|9|1),SYNONYMOUS_CODING(LOW|SILENT|caA/caG|p.Gln356Gln/c.1068A>G|504|ENSG00000138095|protein_coding|CODING|ENST00000409659|9|1),SYNONYMOUS_CODING(LOW|SILENT|caA/caG|p.Gln356Gln/c.1068A>G|531|ENSG00000138095|protein_coding|CODING|ENST00000409946|9|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:88,75:163:99:2408,0,3047
chr2	44209477	rs6741066	C	T	3663.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-3.632;DB;DP=442;Dels=0.00;FS=0.350;HaplotypeScore=0.8321;MLEAC=1;MLEAF=0.500;MQ=40.51;MQ0=0;MQRankSum=-3.771;QD=8.29;ReadPosRankSum=-1.075;SB=-2.812e+03;set=variant29;EFF=SYNONYMOUS_CODING(LOW|SILENT|caG/caA|p.Gln56Gln/c.168G>A|358|ENSG00000138095|protein_coding|CODING|ENST00000447246|2|1),SYNONYMOUS_CODING(LOW|SILENT|caG/caA|p.Gln82Gln/c.246G>A|1394|ENSG00000138095|protein_coding|CODING|ENST00000260665|2|1),SYNONYMOUS_CODING(LOW|SILENT|caG/caA|p.Gln82Gln/c.246G>A|504|ENSG00000138095|protein_coding|CODING|ENST00000409659|2|1),SYNONYMOUS_CODING(LOW|SILENT|caG/caA|p.Gln82Gln/c.246G>A|531|ENSG00000138095|protein_coding|CODING|ENST00000409946|2|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:260,182:442:99:3663,0,5648
chr2	44547142	rs3197473	A	G	146.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-0.717;DB;DP=11;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.387;QD=13.27;ReadPosRankSum=2.359;SB=-6.519e-03;set=variant29;EFF=DOWNSTREAM(MODIFIER||1065||661|ENSG00000138078|protein_coding|CODING|ENST00000378520||1),DOWNSTREAM(MODIFIER||1070||665|ENSG00000138078|protein_coding|CODING|ENST00000378511||1),DOWNSTREAM(MODIFIER||1248||564|ENSG00000138079|protein_coding|CODING|ENST00000409387||1),DOWNSTREAM(MODIFIER||1461||119|ENSG00000138078|protein_coding|CODING|ENST00000420756||1),DOWNSTREAM(MODIFIER||263||70|ENSG00000138078|protein_coding|CODING|ENST00000444696||1),DOWNSTREAM(MODIFIER||4760||564|ENSG00000138079|protein_coding|CODING|ENST00000409229||1),DOWNSTREAM(MODIFIER||824||727|ENSG00000138078|protein_coding|CODING|ENST00000260648||1),DOWNSTREAM(MODIFIER||824||727|ENSG00000138078|protein_coding|CODING|ENST00000409272||1),DOWNSTREAM(MODIFIER||919||727|ENSG00000138078|protein_coding|CODING|ENST00000410081||1),INTRON(MODIFIER||||316|ENSG00000138079|protein_coding|CODING|ENST00000409740|3|1),INTRON(MODIFIER||||407|ENSG00000138079|protein_coding|CODING|ENST00000409380|6|1),INTRON(MODIFIER||||685|ENSG00000138079|protein_coding|CODING|ENST00000260649|9|1),NEXT_PROT[topological_domain:Extracellular](LOW||||685|ENSG00000138079|protein_coding|CODING|ENST00000260649|10|1),NEXT_PROT[topological_domain:Extracellular](LOW||||685|ENSG00000138079|protein_coding|CODING|ENST00000260649|1|1),NEXT_PROT[topological_domain:Extracellular](LOW||||685|ENSG00000138079|protein_coding|CODING|ENST00000260649|2|1),NEXT_PROT[topological_domain:Extracellular](LOW||||685|ENSG00000138079|protein_coding|CODING|ENST00000260649|3|1),NEXT_PROT[topological_domain:Extracellular](LOW||||685|ENSG00000138079|protein_coding|CODING|ENST00000260649|4|1),NEXT_PROT[topological_domain:Extracellular](LOW||||685|ENSG00000138079|protein_coding|CODING|ENST00000260649|5|1),NEXT_PROT[topological_domain:Extracellular](LOW||||685|ENSG00000138079|protein_coding|CODING|ENST00000260649|6|1),NEXT_PROT[topological_domain:Extracellular](LOW||||685|ENSG00000138079|protein_coding|CODING|ENST00000260649|7|1),NEXT_PROT[topological_domain:Extracellular](LOW||||685|ENSG00000138079|protein_coding|CODING|ENST00000260649|8|1),NEXT_PROT[topological_domain:Extracellular](LOW||||685|ENSG00000138079|protein_coding|CODING|ENST00000260649|9|1),UTR_3_PRIME(MODIFIER||||638|ENSG00000138078|protein_coding|CODING|ENST00000409411|14|1),UTR_3_PRIME(MODIFIER||||638|ENSG00000138078|protein_coding|CODING|ENST00000409957|14|1),UTR_3_PRIME(MODIFIER||||638|ENSG00000138078|protein_coding|CODING|ENST00000541738|14|1),UTR_3_PRIME(MODIFIER||||727|ENSG00000138078|protein_coding|CODING|ENST00000409936|15|1),UTR_3_PRIME(MODIFIER|||||ENSG00000138078|nonsense_mediated_decay|CODING|ENST00000425263|14|1),UTR_3_PRIME(MODIFIER|||||ENSG00000138078|nonsense_mediated_decay|CODING|ENST00000426481|14|1)	GT:AD:DP:GQ:PL	0/1:6,5:11:99:176,0,218
chr2	44548282	rs11124988	T	C	218.13	PASS	AC=2;AF=1.00;AN=2;DB;DP=6;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=36.36;SB=-6.519e-03;set=variant29;EFF=DOWNSTREAM(MODIFIER||2388||564|ENSG00000138079|protein_coding|CODING|ENST00000409387||1),DOWNSTREAM(MODIFIER||321||119|ENSG00000138078|protein_coding|CODING|ENST00000420756||1),DOWNSTREAM(MODIFIER||322||407|ENSG00000138079|protein_coding|CODING|ENST00000409380||1),DOWNSTREAM(MODIFIER||345||316|ENSG00000138079|protein_coding|CODING|ENST00000409740||1),INTRON(MODIFIER||||70|ENSG00000138078|protein_coding|CODING|ENST00000444696|2|1),UTR_3_PRIME(MODIFIER||||638|ENSG00000138078|protein_coding|CODING|ENST00000409411|14|1),UTR_3_PRIME(MODIFIER||||638|ENSG00000138078|protein_coding|CODING|ENST00000409957|14|1),UTR_3_PRIME(MODIFIER||||638|ENSG00000138078|protein_coding|CODING|ENST00000541738|14|1),UTR_3_PRIME(MODIFIER||||661|ENSG00000138078|protein_coding|CODING|ENST00000378520|13|1),UTR_3_PRIME(MODIFIER||||665|ENSG00000138078|protein_coding|CODING|ENST00000378511|13|1),UTR_3_PRIME(MODIFIER||||685|ENSG00000138079|protein_coding|CODING|ENST00000260649|10|1),UTR_3_PRIME(MODIFIER||||727|ENSG00000138078|protein_coding|CODING|ENST00000260648|14|1),UTR_3_PRIME(MODIFIER||||727|ENSG00000138078|protein_coding|CODING|ENST00000409272|15|1),UTR_3_PRIME(MODIFIER||||727|ENSG00000138078|protein_coding|CODING|ENST00000409936|15|1),UTR_3_PRIME(MODIFIER||||727|ENSG00000138078|protein_coding|CODING|ENST00000410081|15|1),UTR_3_PRIME(MODIFIER|||||ENSG00000138078|nonsense_mediated_decay|CODING|ENST00000425263|14|1),UTR_3_PRIME(MODIFIER|||||ENSG00000138078|nonsense_mediated_decay|CODING|ENST00000426481|14|1)	GT:AD:DP:GQ:PL	1/1:0,6:6:18:251,18,0
chr2	44548414	.	AT	A	1537.97	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=0.475;DP=151;FS=0.599;HaplotypeScore=22.8089;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-2.241;QD=10.19;RPA=10,9;RU=T;ReadPosRankSum=3.187;SB=-7.680e+02;STR;set=variant30;EFF=DOWNSTREAM(MODIFIER||188||119|ENSG00000138078|protein_coding|CODING|ENST00000420756||1),DOWNSTREAM(MODIFIER||2521||564|ENSG00000138079|protein_coding|CODING|ENST00000409387||1),DOWNSTREAM(MODIFIER||455||407|ENSG00000138079|protein_coding|CODING|ENST00000409380||1),DOWNSTREAM(MODIFIER||478||316|ENSG00000138079|protein_coding|CODING|ENST00000409740||1),INTRON(MODIFIER||||70|ENSG00000138078|protein_coding|CODING|ENST00000444696|2|1),UTR_3_PRIME(MODIFIER||||638|ENSG00000138078|protein_coding|CODING|ENST00000409411|14|1),UTR_3_PRIME(MODIFIER||||638|ENSG00000138078|protein_coding|CODING|ENST00000409957|14|1),UTR_3_PRIME(MODIFIER||||638|ENSG00000138078|protein_coding|CODING|ENST00000541738|14|1),UTR_3_PRIME(MODIFIER||||661|ENSG00000138078|protein_coding|CODING|ENST00000378520|13|1),UTR_3_PRIME(MODIFIER||||665|ENSG00000138078|protein_coding|CODING|ENST00000378511|13|1),UTR_3_PRIME(MODIFIER||||685|ENSG00000138079|protein_coding|CODING|ENST00000260649|10|1),UTR_3_PRIME(MODIFIER||||727|ENSG00000138078|protein_coding|CODING|ENST00000260648|14|1),UTR_3_PRIME(MODIFIER||||727|ENSG00000138078|protein_coding|CODING|ENST00000409272|15|1),UTR_3_PRIME(MODIFIER||||727|ENSG00000138078|protein_coding|CODING|ENST00000409936|15|1),UTR_3_PRIME(MODIFIER||||727|ENSG00000138078|protein_coding|CODING|ENST00000410081|15|1),UTR_3_PRIME(MODIFIER|||||ENSG00000138078|nonsense_mediated_decay|CODING|ENST00000425263|14|1),UTR_3_PRIME(MODIFIER|||||ENSG00000138078|nonsense_mediated_decay|CODING|ENST00000426481|14|1)	GT:AD:DP:GQ:PL	0/1:85,66:151:99:1577,0,2031
chr2	50148972	rs1045881	C	T	2229.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=4.192;DB;DP=137;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.609;QD=16.27;ReadPosRankSum=-1.092;SB=-6.519e-03;set=variant29;EFF=DOWNSTREAM(MODIFIER||110||1477|ENSG00000179915|protein_coding|CODING|ENST00000406859||1),DOWNSTREAM(MODIFIER||110||1499|ENSG00000179915|protein_coding|CODING|ENST00000402717||1),EXON(MODIFIER|||||ENSG00000179915|processed_transcript|CODING|ENST00000484192|3|1),UTR_3_PRIME(MODIFIER||||143|ENSG00000179915|protein_coding|CODING|ENST00000378262|3|1),UTR_3_PRIME(MODIFIER||||1477|ENSG00000179915|protein_coding|CODING|ENST00000406316|22|1),UTR_3_PRIME(MODIFIER||||1499|ENSG00000179915|protein_coding|CODING|ENST00000405472|22|1),UTR_3_PRIME(MODIFIER||||1507|ENSG00000179915|protein_coding|CODING|ENST00000401669|23|1),UTR_3_PRIME(MODIFIER||||1547|ENSG00000179915|protein_coding|CODING|ENST00000404971|24|1),UTR_3_PRIME(MODIFIER||||209|ENSG00000179915|protein_coding|CODING|ENST00000412315|3|1),UTR_3_PRIME(MODIFIER||||442|ENSG00000179915|protein_coding|CODING|ENST00000342183|6|1),UTR_3_PRIME(MODIFIER||||495|ENSG00000179915|protein_coding|CODING|ENST00000401710|9|1)	GT:AD:DP:GQ:PL	0/1:70,67:137:99:2259,0,2328
chr2	51255692	rs35228545	A	G	80.97	PASS	AC=2;AF=1.00;AN=2;DB;DP=3;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=26.99;SB=-6.519e-03;set=variant29;EFF=UPSTREAM(MODIFIER||281||1477|ENSG00000179915|protein_coding|CODING|ENST00000406859||1),UPSTREAM(MODIFIER||281||1499|ENSG00000179915|protein_coding|CODING|ENST00000402717||1),UPSTREAM(MODIFIER||4047|||ENSG00000231918|processed_transcript|NON_CODING|ENST00000440698||1),UPSTREAM(MODIFIER||773|||ENSG00000179915|processed_transcript|CODING|ENST00000496792||1),UTR_5_PRIME(MODIFIER||||1477|ENSG00000179915|protein_coding|CODING|ENST00000406316|2|1),UTR_5_PRIME(MODIFIER||||1499|ENSG00000179915|protein_coding|CODING|ENST00000405472|2|1),UTR_5_PRIME(MODIFIER||||1507|ENSG00000179915|protein_coding|CODING|ENST00000401669|2|1),UTR_5_PRIME(MODIFIER||||1547|ENSG00000179915|protein_coding|CODING|ENST00000404971|2|1),UTR_5_PRIME(MODIFIER||||278|ENSG00000179915|protein_coding|CODING|ENST00000405581|2|1)	GT:AD:DP:GQ:PL	1/1:0,3:3:9:113,9,0
chr2	55470115	rs11357	C	T	3291.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-10.979;DB;DP=241;Dels=0.00;FS=26.711;HaplotypeScore=0.0000;MLEAC=1;MLEAF=0.500;MQ=40.99;MQ0=0;MQRankSum=3.023;QD=13.66;ReadPosRankSum=3.212;SB=-4.001e+01;set=variant29;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Ata|p.Val234Ile/c.700G>A|300|ENSG00000085760|protein_coding|CODING|ENST00000418823|6|1|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Ata|p.Val556Ile/c.1666G>A|727|ENSG00000085760|protein_coding|CODING|ENST00000263629|13|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Ata|p.Val556Ile/c.1666G>A|727|ENSG00000085760|protein_coding|CODING|ENST00000394600|14|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gta/Ata|p.Val556Ile/c.1666G>A|727|ENSG00000085760|protein_coding|CODING|ENST00000403721|12|1);dbNSFP_FATHMM_score_converted=0.34665670526709;dbNSFP_GERP++_RS=2.14;dbNSFP_1000Gp1_ASN_AF=0.6433566433566433;dbNSFP_Ensembl_geneid=ENSG00000085760;dbNSFP_FATHMM_score=1.36;dbNSFP_1000Gp1_ASN_AC=368;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=9.5781;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=0.999927;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=-1.115;dbNSFP_1000Gp1_AMR_AC=268;dbNSFP_ESP6500_EA_AF=0.778153;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.0:0.2726:0.0:0.7274;dbNSFP_LRT_Omega=0.222757;dbNSFP_1000Gp1_AMR_AF=0.7403314917127072;dbNSFP_GERP++_NR=5.84;dbNSFP_Interpro_domain=Translation_initiation_factor_IF-_2|_domain_3_(3)|;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.000320;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.99984;dbNSFP_phyloP=-0.087000;dbNSFP_genename=MTIF2;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.0;dbNSFP_Uniprot_acc=P46199;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.002;dbNSFP_UniSNP_ids=rs11357|rs1056451|rs2230368|rs2576718|rs3197057|rs11542949|rs17842560|rs11357;dbNSFP_SIFT_pred=T;dbNSFP_aapos=556|556|556|234;dbNSFP_1000Gp1_AFR_AF=0.47560975609756095;dbNSFP_1000Gp1_AFR_AC=234;dbNSFP_refcodon=GTA;dbNSFP_Uniprot_aapos=556;dbNSFP_1000Gp1_AC=1491;dbNSFP_1000Gp1_AF=0.6826923076923077;dbNSFP_SIFT_score=1.000000;dbNSFP_Uniprot_id=IF2M_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000403721|ENST00000263629|ENST00000394600|ENST00000418823;dbNSFP_ESP6500_AA_AF=0.518838;dbNSFP_Polyphen2_HVAR_score=0.022;dbNSFP_Ancestral_allele=T;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.8192612137203166;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=0.3845486111111111;dbNSFP_1000Gp1_EUR_AC=621	GT:AD:DP:GQ:PL	0/1:136,105:241:99:3291,0,4032
chr2	55490819	rs1056445	G	T	6615.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-8.825;DB;DP=488;Dels=0.00;FS=41.806;HaplotypeScore=7.9375;MLEAC=1;MLEAF=0.500;MQ=41.61;MQ0=0;MQRankSum=5.699;QD=13.56;ReadPosRankSum=6.608;SB=-3.472e+03;set=variant29;EFF=DOWNSTREAM(MODIFIER||145||9|ENSG00000085760|protein_coding|CODING|ENST00000417363||1),DOWNSTREAM(MODIFIER||154||6|ENSG00000085760|protein_coding|CODING|ENST00000412530||1),DOWNSTREAM(MODIFIER||97||25|ENSG00000085760|protein_coding|CODING|ENST00000420637||1),EXON(MODIFIER|||||ENSG00000085760|processed_transcript|CODING|ENST00000417741|2|1),EXON(MODIFIER|||||ENSG00000085760|processed_transcript|CODING|ENST00000446660|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aAt|p.Thr59Asn/c.176C>A|69|ENSG00000085760|protein_coding|CODING|ENST00000404297|2|1|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aAt|p.Thr59Asn/c.176C>A|69|ENSG00000085760|protein_coding|CODING|ENST00000441307|4|1|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aAt|p.Thr59Asn/c.176C>A|71|ENSG00000085760|protein_coding|CODING|ENST00000366137|5|1|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aAt|p.Thr59Asn/c.176C>A|727|ENSG00000085760|protein_coding|CODING|ENST00000263629|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aAt|p.Thr59Asn/c.176C>A|727|ENSG00000085760|protein_coding|CODING|ENST00000394600|5|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aAt|p.Thr59Asn/c.176C>A|727|ENSG00000085760|protein_coding|CODING|ENST00000403721|3|1);dbNSFP_FATHMM_score_converted=0.383264848711244;dbNSFP_GERP++_RS=1.38;dbNSFP_1000Gp1_ASN_AF=0.6468531468531469;dbNSFP_Ensembl_geneid=ENSG00000085760;dbNSFP_FATHMM_score=0.38;dbNSFP_1000Gp1_ASN_AC=370;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=10.6259;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=0.69;dbNSFP_1000Gp1_AMR_AC=268;dbNSFP_ESP6500_EA_AF=0.77686;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.8471:0.0:0.1529:0.0;dbNSFP_LRT_Omega=0.854634;dbNSFP_1000Gp1_AMR_AF=0.7403314917127072;dbNSFP_GERP++_NR=5.18;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.687674;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.656163;dbNSFP_phyloP=0.050000;dbNSFP_genename=MTIF2;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.44999999999999996;dbNSFP_Uniprot_acc=P46199;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=0.028;dbNSFP_UniSNP_ids=rs1056445|rs2230369|rs3791627|rs52811785|rs61290098|rs1056445;dbNSFP_SIFT_pred=T;dbNSFP_aapos=59;dbNSFP_1000Gp1_AFR_AF=0.4634146341463415;dbNSFP_1000Gp1_AFR_AC=228;dbNSFP_refcodon=ACT;dbNSFP_Uniprot_aapos=59;dbNSFP_1000Gp1_AC=1485;dbNSFP_1000Gp1_AF=0.679945054945055;dbNSFP_SIFT_score=0.550000;dbNSFP_Uniprot_id=IF2M_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000403721|ENST00000263629|ENST00000394600|ENST00000535023|ENST00000366137|ENST00000441307|ENST00000404297;dbNSFP_ESP6500_AA_AF=0.515207;dbNSFP_Polyphen2_HVAR_score=0.019;dbNSFP_Ancestral_allele=G;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.816622691292876;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=0.5412326388888888;dbNSFP_1000Gp1_EUR_AC=619	GT:AD:DP:GQ:PL	0/1:278,209:487:99:6615,0,9690
chr2	55883317	rs2627765	G	T	5767.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=16.018;DB;DP=534;Dels=0.00;FS=0.645;HaplotypeScore=9.6444;MLEAC=1;MLEAF=0.500;MQ=33.00;MQ0=0;MQRankSum=-9.758;QD=10.80;ReadPosRankSum=-0.931;SB=-3.305e+03;set=variant29;EFF=EXON(MODIFIER|||||ENSG00000138035|nonsense_mediated_decay|CODING|ENST00000415374|17|1),EXON(MODIFIER|||||ENSG00000138035|nonsense_mediated_decay|CODING|ENST00000415489|6|1),SYNONYMOUS_CODING(LOW|SILENT|Cga/Aga|p.Arg464Arg/c.1390C>A|783|ENSG00000138035|protein_coding|CODING|ENST00000447944|17|1),UTR_3_PRIME(MODIFIER|||||ENSG00000138035|nonsense_mediated_decay|CODING|ENST00000260604|16|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:253,280:534:99:5767,0,5110
chr2	55912120	rs782572	T	C	9923.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=11.355;DB;DP=756;Dels=0.00;FS=1.454;HaplotypeScore=1.8737;MLEAC=1;MLEAF=0.500;MQ=43.96;MQ0=0;MQRankSum=-0.031;QD=13.13;ReadPosRankSum=0.412;SB=-6.124e+03;set=variant29;EFF=EXON(MODIFIER|||||ENSG00000138035|nonsense_mediated_decay|CODING|ENST00000260604|4|1),EXON(MODIFIER|||||ENSG00000138035|nonsense_mediated_decay|CODING|ENST00000415374|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|p.Ile121Val/c.361A>G|783|ENSG00000138035|protein_coding|CODING|ENST00000447944|4|1),UTR_3_PRIME(MODIFIER|||||ENSG00000138035|nonsense_mediated_decay|CODING|ENST00000429805|2|1);dbNSFP_FATHMM_score_converted=0.39783339559208075;dbNSFP_GERP++_RS=0.133;dbNSFP_1000Gp1_ASN_AF=0.15384615384615385;dbNSFP_Ensembl_geneid=ENSG00000138035;dbNSFP_FATHMM_score=-0.01;dbNSFP_1000Gp1_ASN_AC=88;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=1.9614;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=0.554068;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=-0.345;dbNSFP_1000Gp1_AMR_AC=175;dbNSFP_ESP6500_EA_AF=0.501628;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.1264:0.168:0.3898:0.3158;dbNSFP_LRT_Omega=0.417666;dbNSFP_1000Gp1_AMR_AF=0.48342541436464087;dbNSFP_GERP++_NR=5.55;dbNSFP_Interpro_domain=Ribosomal_protein_S5_domain_2-type_fold_(1)|Exoribonuclease|_phosphorolytic_domain_1_(1)|;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.040097;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.9799515;dbNSFP_phyloP=0.367000;dbNSFP_genename=PNPT1;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.74;dbNSFP_Uniprot_acc=Q8TCS8;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.001;dbNSFP_UniSNP_ids=rs782572|rs17854835|rs52800061|rs782572;dbNSFP_SIFT_pred=T;dbNSFP_aapos=121;dbNSFP_1000Gp1_AFR_AF=0.3150406504065041;dbNSFP_1000Gp1_AFR_AC=155;dbNSFP_refcodon=ATT;dbNSFP_Uniprot_aapos=121;dbNSFP_1000Gp1_AC=825;dbNSFP_1000Gp1_AF=0.37774725274725274;dbNSFP_SIFT_score=0.260000;dbNSFP_Uniprot_id=PNPT1_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000447944;dbNSFP_ESP6500_AA_AF=0.339991;dbNSFP_Polyphen2_HVAR_score=0.005;dbNSFP_Ancestral_allele=T;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.5369393139841688;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=0.4513888888888889;dbNSFP_1000Gp1_EUR_AC=407	GT:AD:DP:GQ:PL	0/1:387,369:756:99:9923,0,9813
chr2	69659126	rs4453725	A	T	3123.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=4.507;DB;DP=329;Dels=0.00;FS=3.560;HaplotypeScore=0.9159;MLEAC=1;MLEAF=0.500;MQ=41.39;MQ0=0;MQRankSum=0.439;QD=9.49;ReadPosRankSum=0.637;SB=-2.883e+03;set=variant29;EFF=EXON(MODIFIER|||||ENSG00000169599|nonsense_mediated_decay|CODING|ENST00000419370|2|1),EXON(MODIFIER|||||ENSG00000169599|nonsense_mediated_decay|CODING|ENST00000438184|2|1),EXON(MODIFIER|||||ENSG00000169599|processed_transcript|CODING|ENST00000471185|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aAg|p.Met25Lys/c.74T>A|254|ENSG00000169599|protein_coding|CODING|ENST00000410022|2|1),START_LOST(HIGH|MISSENSE|aTg/aAg|p.Met1?/c.2T>A|230|ENSG00000169599|protein_coding|CODING|ENST00000303698|2|1),UTR_5_PRIME(MODIFIER||||113|ENSG00000169599|protein_coding|CODING|ENST00000394305|2|1),UTR_5_PRIME(MODIFIER||||95|ENSG00000169599|protein_coding|CODING|ENST00000484177|2|1),UTR_5_PRIME(MODIFIER||||98|ENSG00000169599|protein_coding|CODING|ENST00000450796|2|1);LOF=(NFU1|ENSG00000169599|10|0.10);dbNSFP_FATHMM_score_converted=0.3982069480762047;dbNSFP_GERP++_RS=3.94;dbNSFP_1000Gp1_ASN_AF=0.18706293706293706;dbNSFP_Ensembl_geneid=ENSG00000169599;dbNSFP_FATHMM_score=-0.02;dbNSFP_1000Gp1_ASN_AC=107;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=6.8836;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=0.99997;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=0.345;dbNSFP_1000Gp1_AMR_AC=138;dbNSFP_ESP6500_EA_AF=0.42686;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.8227:0.0:0.1773:0.0;dbNSFP_LRT_Omega=1.058880;dbNSFP_1000Gp1_AMR_AF=0.3812154696132597;dbNSFP_GERP++_NR=5.1;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.865204;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.432602;dbNSFP_phyloP=1.066000;dbNSFP_genename=NFU1;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.99;dbNSFP_Uniprot_acc=Q9UMS0-3|Q9UMS0;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=0.039|0.007;dbNSFP_UniSNP_ids=rs4453725|rs4453725;dbNSFP_SIFT_pred=D;dbNSFP_aapos=25|1;dbNSFP_1000Gp1_AFR_AF=0.22967479674796748;dbNSFP_1000Gp1_AFR_AC=113;dbNSFP_refcodon=ATG;dbNSFP_Uniprot_aapos=1|25;dbNSFP_1000Gp1_AC=676;dbNSFP_1000Gp1_AF=0.30952380952380953;dbNSFP_SIFT_score=0.010000;dbNSFP_Uniprot_id=.|NFU1_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000410022|ENST00000303698;dbNSFP_ESP6500_AA_AF=0.2803;dbNSFP_Polyphen2_HVAR_score=0.019|0.008;dbNSFP_Ancestral_allele=A;dbNSFP_Polyphen2_HDIV_pred=B|B;dbNSFP_1000Gp1_EUR_AF=0.41952506596306066;dbNSFP_Polyphen2_HVAR_pred=B|B;dbNSFP_MutationAssessor_score_converted=0.5112847222222222;dbNSFP_1000Gp1_EUR_AC=318	GT:AD:DP:GQ:PL	0/1:165,164:329:99:3153,0,3483
chr2	70524577	rs2618235	G	A	4951.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=1.542;DB;DP=415;Dels=0.00;FS=4.395;HaplotypeScore=2.7983;MLEAC=1;MLEAF=0.500;MQ=32.97;MQ0=0;MQRankSum=-8.499;QD=11.93;ReadPosRankSum=0.341;SB=-8.120e+02;set=variant29;EFF=DOWNSTREAM(MODIFIER||3063|||ENSG00000035141|retained_intron|CODING|ENST00000498665||1),EXON(MODIFIER|||||ENSG00000035141|retained_intron|CODING|ENST00000460307|3|1),SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|p.Asn157Asn/c.471C>T|162|ENSG00000035141|protein_coding|CODING|ENST00000438759|3|1|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|p.Asn194Asn/c.582C>T|245|ENSG00000035141|protein_coding|CODING|ENST00000430566|3|1),SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|p.Asn87Asn/c.261C>T|138|ENSG00000035141|protein_coding|CODING|ENST00000037869|3|1),UPSTREAM(MODIFIER||3674||76|ENSG00000143977|protein_coding|CODING|ENST00000272348||1),UPSTREAM(MODIFIER||3705|||ENSG00000143977|processed_transcript|CODING|ENST00000429728||1),UPSTREAM(MODIFIER||3715|||ENSG00000143977|retained_intron|CODING|ENST00000488400||1),UPSTREAM(MODIFIER||3726|||ENSG00000143977|retained_intron|CODING|ENST00000480370||1),UPSTREAM(MODIFIER||3734||96|ENSG00000143977|protein_coding|CODING|ENST00000454893||1),UPSTREAM(MODIFIER||3997||64|ENSG00000143977|protein_coding|CODING|ENST00000438261||1),UPSTREAM(MODIFIER||4006|||ENSG00000233849|antisense|NON_CODING|ENST00000445084||1),UPSTREAM(MODIFIER||4007||64|ENSG00000143977|protein_coding|CODING|ENST00000482975||1),UPSTREAM(MODIFIER||4221||68|ENSG00000143977|protein_coding|CODING|ENST00000413456||1),UPSTREAM(MODIFIER||4669||64|ENSG00000143977|protein_coding|CODING|ENST00000449935||1),UTR_3_PRIME(MODIFIER||||105|ENSG00000035141|protein_coding|CODING|ENST00000450256|4|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:208,207:415:99:4951,0,5242
chr2	73339708	rs1864488	G	A	3437.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-5.848;DB;DP=319;Dels=0.00;FS=3.008;HaplotypeScore=3.9195;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-1.488;QD=10.77;ReadPosRankSum=0.802;SB=-2.857e+03;set=variant29;EFF=INTRON(MODIFIER|||||ENSG00000135631|processed_transcript|CODING|ENST00000475951|1|1),NEXT_PROT[domain:C2](LOW||||653|ENSG00000135631|protein_coding|CODING|ENST00000258098|1|1),SYNONYMOUS_CODING(LOW|SILENT|tgC/tgT|p.Cys66Cys/c.198C>T|653|ENSG00000135631|protein_coding|CODING|ENST00000258098|1|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:145,174:319:99:3437,0,2979
chr2	73478461	rs7851	A	T	26389.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=889;Dels=0.00;FS=0.000;HaplotypeScore=10.3304;MLEAC=2;MLEAF=1.00;MQ=43.76;MQ0=0;QD=29.68;SB=-1.076e+04;set=variant29;EFF=DOWNSTREAM(MODIFIER||1489|||ENSG00000135624|processed_transcript|CODING|ENST00000473786||1),DOWNSTREAM(MODIFIER||2272|||ENSG00000135624|retained_intron|CODING|ENST00000488856||1),DOWNSTREAM(MODIFIER||3349||936|ENSG00000163013|protein_coding|CODING|ENST00000295133||1),DOWNSTREAM(MODIFIER||3357||875|ENSG00000163013|protein_coding|CODING|ENST00000521871||1),DOWNSTREAM(MODIFIER||3544|||ENSG00000135624|nonsense_mediated_decay|CODING|ENST00000409924||1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcT|p.Ala233Ala/c.699A>T|339|ENSG00000135624|protein_coding|CODING|ENST00000398422|6|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcT|p.Ala309Ala/c.927A>T|415|ENSG00000135624|protein_coding|CODING|ENST00000538797|10|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcT|p.Ala337Ala/c.1011A>T|443|ENSG00000135624|protein_coding|CODING|ENST00000537131|10|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcT|p.Ala350Ala/c.1050A>T|456|ENSG00000135624|protein_coding|CODING|ENST00000540468|9|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcT|p.Ala393Ala/c.1179A>T|499|ENSG00000135624|protein_coding|CODING|ENST00000539919|12|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcT|p.Ala437Ala/c.1311A>T|543|ENSG00000135624|protein_coding|CODING|ENST00000258091|11|1)	GT:AD:DP:GQ:PL	1/1:0,888:889:99:26389,1836,0
chr2	74692191	rs79181168	C	T	1673.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-9.040;DB;DP=186;Dels=0.00;FS=1.141;HaplotypeScore=1.8730;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-1.957;QD=8.99;ReadPosRankSum=-0.564;SB=-1.137e+03;set=variant29;EFF=DOWNSTREAM(MODIFIER||4173||269|ENSG00000239779|protein_coding|CODING|ENST00000233615||1),DOWNSTREAM(MODIFIER||4173||303|ENSG00000239779|protein_coding|CODING|ENST00000393972||1),DOWNSTREAM(MODIFIER||4180|||ENSG00000115274|nonsense_mediated_decay|CODING|ENST00000452361||1),DOWNSTREAM(MODIFIER||4181|||ENSG00000239779|retained_intron|CODING|ENST00000484744||1),DOWNSTREAM(MODIFIER||4208||266|ENSG00000239779|protein_coding|CODING|ENST00000409737||1),DOWNSTREAM(MODIFIER||4218|||ENSG00000115274|nonsense_mediated_decay|CODING|ENST00000441673||1),DOWNSTREAM(MODIFIER||4368|||ENSG00000239779|processed_transcript|CODING|ENST00000494741||1),DOWNSTREAM(MODIFIER||4447|||ENSG00000239779|processed_transcript|CODING|ENST00000470536||1),DOWNSTREAM(MODIFIER||4621||248|ENSG00000239779|protein_coding|CODING|ENST00000428943||1),DOWNSTREAM(MODIFIER||4632|||ENSG00000239779|retained_intron|CODING|ENST00000473467||1),DOWNSTREAM(MODIFIER||4636|||ENSG00000239779|retained_intron|CODING|ENST00000490120||1),DOWNSTREAM(MODIFIER||4754|||ENSG00000239779|processed_transcript|CODING|ENST00000466835||1),DOWNSTREAM(MODIFIER||4834|||ENSG00000239779|processed_transcript|CODING|ENST00000464774||1),EXON(MODIFIER|||||ENSG00000115275|retained_intron|CODING|ENST00000486036|1|1),INTRON(MODIFIER||||144|ENSG00000115275|protein_coding|CODING|ENST00000414701|1|1),INTRON(MODIFIER||||490|ENSG00000115275|protein_coding|CODING|ENST00000448666|1|1),INTRON(MODIFIER||||731|ENSG00000115275|protein_coding|CODING|ENST00000452063|1|1),INTRON(MODIFIER|||||ENSG00000115275|processed_transcript|CODING|ENST00000462443|1|1),NEXT_PROT[topological_domain:Lumenal](LOW||||837|ENSG00000115275|protein_coding|CODING|ENST00000233616|1|1),NEXT_PROT[topological_domain:Lumenal](LOW||||837|ENSG00000115275|protein_coding|CODING|ENST00000233616|2|1),NEXT_PROT[topological_domain:Lumenal](LOW||||837|ENSG00000115275|protein_coding|CODING|ENST00000233616|3|1),NEXT_PROT[topological_domain:Lumenal](LOW||||837|ENSG00000115275|protein_coding|CODING|ENST00000233616|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|p.Val62Met/c.184G>A|159|ENSG00000115275|protein_coding|CODING|ENST00000535045|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|p.Val62Met/c.184G>A|209|ENSG00000115275|protein_coding|CODING|ENST00000409065|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|p.Val62Met/c.184G>A|837|ENSG00000115275|protein_coding|CODING|ENST00000233616|1|1),UPSTREAM(MODIFIER||1418|||ENSG00000115275|retained_intron|CODING|ENST00000462189||1),UPSTREAM(MODIFIER||1427|||ENSG00000115275|processed_transcript|CODING|ENST00000489655||1);dbNSFP_FATHMM_score_converted=0.3571161748225625;dbNSFP_GERP++_RS=-0.873;dbNSFP_1000Gp1_ASN_AF=0.008741258741258742;dbNSFP_Ensembl_geneid=ENSG00000115275;dbNSFP_FATHMM_score=1.08;dbNSFP_1000Gp1_ASN_AC=5;dbNSFP_MutationTaster_pred=N;dbNSFP_29way_logOdds=6.9925;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=0.998761;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=0.345;dbNSFP_1000Gp1_AMR_AC=11;dbNSFP_ESP6500_EA_AF=0.055722;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.0:0.1795:0.2259:0.5946;dbNSFP_LRT_Omega=0.789213;dbNSFP_1000Gp1_AMR_AF=0.03038674033149171;dbNSFP_GERP++_NR=5.09;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.626167;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.6869164999999999;dbNSFP_phyloP=-0.017000;dbNSFP_genename=MOGS;dbNSFP_MutationTaster_score_converted=0.0012389999999999901;dbNSFP_SIFT_score_converted=0.78;dbNSFP_Uniprot_acc=B4E3B8|Q13724;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.003|0.001;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=T;dbNSFP_aapos=62;dbNSFP_1000Gp1_AFR_AF=0.0040650406504065045;dbNSFP_1000Gp1_AFR_AC=2;dbNSFP_refcodon=GTG;dbNSFP_Uniprot_aapos=62|62;dbNSFP_1000Gp1_AC=63;dbNSFP_1000Gp1_AF=0.028846153846153848;dbNSFP_SIFT_score=0.220000;dbNSFP_Uniprot_id=.|MOGS_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000233616|ENST00000409065|ENST00000535045;dbNSFP_ESP6500_AA_AF=0.012755;dbNSFP_Polyphen2_HVAR_score=0.006|0.002;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=B|B;dbNSFP_1000Gp1_EUR_AF=0.059366754617414245;dbNSFP_Polyphen2_HVAR_pred=B|B;dbNSFP_MutationAssessor_score_converted=0.5112847222222222;dbNSFP_1000Gp1_EUR_AC=45	GT:AD:DP:GQ:PL	0/1:100,86:186:99:1703,0,2013
chr2	75115108	rs10194657	A	G	14589.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=19.864;DB;DP=1674;Dels=0.00;FS=3.085;HaplotypeScore=25.1749;MLEAC=1;MLEAF=0.500;MQ=29.14;MQ0=0;MQRankSum=-27.208;QD=8.72;ReadPosRankSum=4.095;SB=-6.551e+03;set=variant29;EFF=NEXT_PROT[domain:Hexokinase_type-2_2](LOW||||917|ENSG00000159399|protein_coding|CODING|ENST00000290573|14|1),NEXT_PROT[domain:Hexokinase_type-2_2](LOW||||917|ENSG00000159399|protein_coding|CODING|ENST00000290573|15|1),NEXT_PROT[domain:Hexokinase_type-2_2](LOW||||917|ENSG00000159399|protein_coding|CODING|ENST00000290573|16|1),NEXT_PROT[domain:Hexokinase_type-2_2](LOW||||917|ENSG00000159399|protein_coding|CODING|ENST00000290573|17|1),NEXT_PROT[domain:Hexokinase_type-2_2](LOW||||917|ENSG00000159399|protein_coding|CODING|ENST00000290573|18|1),NEXT_PROT[region_of_interest:Catalytic](LOW||||917|ENSG00000159399|protein_coding|CODING|ENST00000290573|10|1),NEXT_PROT[region_of_interest:Catalytic](LOW||||917|ENSG00000159399|protein_coding|CODING|ENST00000290573|11|1),NEXT_PROT[region_of_interest:Catalytic](LOW||||917|ENSG00000159399|protein_coding|CODING|ENST00000290573|12|1),NEXT_PROT[region_of_interest:Catalytic](LOW||||917|ENSG00000159399|protein_coding|CODING|ENST00000290573|13|1),NEXT_PROT[region_of_interest:Catalytic](LOW||||917|ENSG00000159399|protein_coding|CODING|ENST00000290573|14|1),NEXT_PROT[region_of_interest:Catalytic](LOW||||917|ENSG00000159399|protein_coding|CODING|ENST00000290573|15|1),NEXT_PROT[region_of_interest:Catalytic](LOW||||917|ENSG00000159399|protein_coding|CODING|ENST00000290573|16|1),NEXT_PROT[region_of_interest:Catalytic](LOW||||917|ENSG00000159399|protein_coding|CODING|ENST00000290573|17|1),NEXT_PROT[region_of_interest:Catalytic](LOW||||917|ENSG00000159399|protein_coding|CODING|ENST00000290573|18|1),SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|p.Leu738Leu/c.2214A>G|889|ENSG00000159399|protein_coding|CODING|ENST00000409174|16|1),SYNONYMOUS_CODING(LOW|SILENT|ctA/ctG|p.Leu766Leu/c.2298A>G|917|ENSG00000159399|protein_coding|CODING|ENST00000290573|16|1)	GT:AD:DP:GQ:PL	0/1:924,749:1674:99:14589,0,19371
chr2	85806266	rs3731828	C	T	13174.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-13.537;DB;DP=1150;Dels=0.00;FS=0.907;HaplotypeScore=8.7577;MLEAC=1;MLEAF=0.500;MQ=43.97;MQ0=0;MQRankSum=-0.148;QD=11.46;ReadPosRankSum=-0.089;SB=-8.216e+03;set=variant29;EFF=NEXT_PROT[domain:v-SNARE_coiled-coil_homology](LOW||||100|ENSG00000118640|protein_coding|CODING|ENST00000263864|2|1),NEXT_PROT[domain:v-SNARE_coiled-coil_homology](LOW||||100|ENSG00000118640|protein_coding|CODING|ENST00000263864|3|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||100|ENSG00000118640|protein_coding|CODING|ENST00000263864|1|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||100|ENSG00000118640|protein_coding|CODING|ENST00000263864|2|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||100|ENSG00000118640|protein_coding|CODING|ENST00000263864|3|1),SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|p.Asn20Asn/c.60C>T|74|ENSG00000118640|protein_coding|CODING|ENST00000432071|2|1),SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|p.Asn46Asn/c.138C>T|100|ENSG00000118640|protein_coding|CODING|ENST00000263864|2|1),SYNONYMOUS_CODING(LOW|SILENT|aaC/aaT|p.Asn46Asn/c.138C>T|99|ENSG00000118640|protein_coding|CODING|ENST00000409760|2|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:543,607:1150:99:13174,0,11538
chr2	85808737	rs1009	A	G	6263.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=5.274;DB;DP=502;Dels=0.00;FS=0.000;HaplotypeScore=8.1414;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=1.445;QD=12.48;ReadPosRankSum=-2.933;SB=-2.588e+03;set=variant29;EFF=NEXT_PROT[domain:v-SNARE_coiled-coil_homology](LOW||||100|ENSG00000118640|protein_coding|CODING|ENST00000263864|2|1),NEXT_PROT[domain:v-SNARE_coiled-coil_homology](LOW||||100|ENSG00000118640|protein_coding|CODING|ENST00000263864|3|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||100|ENSG00000118640|protein_coding|CODING|ENST00000263864|1|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||100|ENSG00000118640|protein_coding|CODING|ENST00000263864|2|1),NEXT_PROT[topological_domain:Cytoplasmic](LOW||||100|ENSG00000118640|protein_coding|CODING|ENST00000263864|3|1),SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|p.Arg41Arg/c.123A>G|74|ENSG00000118640|protein_coding|CODING|ENST00000432071|3|1),SYNONYMOUS_CODING(LOW|SILENT|cgA/cgG|p.Arg67Arg/c.201A>G|100|ENSG00000118640|protein_coding|CODING|ENST00000263864|3|1),UPSTREAM(MODIFIER||2794||116|ENSG00000168899|protein_coding|CODING|ENST00000306384||1),UTR_3_PRIME(MODIFIER||||99|ENSG00000118640|protein_coding|CODING|ENST00000409760|4|1)	GT:AD:DP:GQ:PL	0/1:251,251:502:99:6263,0,6161
chr2	86371883	rs8244	T	C	20474.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=914;Dels=0.00;FS=0.000;HaplotypeScore=8.4482;MLEAC=2;MLEAF=1.00;MQ=21.38;MQ0=0;QD=22.40;SB=-9.964e+03;set=variant29;EFF=DOWNSTREAM(MODIFIER||2603||689|ENSG00000132300|protein_coding|CODING|ENST00000254630||1),NEXT_PROT[topological_domain:Mitochondrial_intermembrane](LOW||||758|ENSG00000132305|protein_coding|CODING|ENST00000410111|10|1),NEXT_PROT[topological_domain:Mitochondrial_intermembrane](LOW||||758|ENSG00000132305|protein_coding|CODING|ENST00000410111|11|1),NEXT_PROT[topological_domain:Mitochondrial_intermembrane](LOW||||758|ENSG00000132305|protein_coding|CODING|ENST00000410111|12|1),NEXT_PROT[topological_domain:Mitochondrial_intermembrane](LOW||||758|ENSG00000132305|protein_coding|CODING|ENST00000410111|13|1),NEXT_PROT[topological_domain:Mitochondrial_intermembrane](LOW||||758|ENSG00000132305|protein_coding|CODING|ENST00000410111|14|1),NEXT_PROT[topological_domain:Mitochondrial_intermembrane](LOW||||758|ENSG00000132305|protein_coding|CODING|ENST00000410111|15|1),NEXT_PROT[topological_domain:Mitochondrial_intermembrane](LOW||||758|ENSG00000132305|protein_coding|CODING|ENST00000410111|3|1),NEXT_PROT[topological_domain:Mitochondrial_intermembrane](LOW||||758|ENSG00000132305|protein_coding|CODING|ENST00000410111|4|1),NEXT_PROT[topological_domain:Mitochondrial_intermembrane](LOW||||758|ENSG00000132305|protein_coding|CODING|ENST00000410111|5|1),NEXT_PROT[topological_domain:Mitochondrial_intermembrane](LOW||||758|ENSG00000132305|protein_coding|CODING|ENST00000410111|6|1),NEXT_PROT[topological_domain:Mitochondrial_intermembrane](LOW||||758|ENSG00000132305|protein_coding|CODING|ENST00000410111|7|1),NEXT_PROT[topological_domain:Mitochondrial_intermembrane](LOW||||758|ENSG00000132305|protein_coding|CODING|ENST00000410111|8|1),NEXT_PROT[topological_domain:Mitochondrial_intermembrane](LOW||||758|ENSG00000132305|protein_coding|CODING|ENST00000410111|9|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|p.Ala449Ala/c.1347A>G|612|ENSG00000132305|protein_coding|CODING|ENST00000419070|11|1|WARNING_TRANSCRIPT_NO_START_CODON),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|p.Ala496Ala/c.1488A>G|659|ENSG00000132305|protein_coding|CODING|ENST00000254636|15|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|p.Ala548Ala/c.1644A>G|711|ENSG00000132305|protein_coding|CODING|ENST00000409051|14|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|p.Ala584Ala/c.1752A>G|747|ENSG00000132305|protein_coding|CODING|ENST00000449247|15|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|p.Ala594Ala/c.1782A>G|757|ENSG00000132305|protein_coding|CODING|ENST00000442664|15|1),SYNONYMOUS_CODING(LOW|SILENT|gcA/gcG|p.Ala595Ala/c.1785A>G|758|ENSG00000132305|protein_coding|CODING|ENST00000410111|15|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=-10.5;dbNSFP_1000Gp1_ASN_AF=0.16433566433566432;dbNSFP_Ensembl_geneid=ENSG00000132305;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=94;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=5.2624;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=4.20542e-15;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=143;dbNSFP_ESP6500_EA_AF=0.503146;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=0.1877:0.432:0.2424:0.1379;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=0.39502762430939226;dbNSFP_GERP++_NR=5.27;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=-3.336000;dbNSFP_genename=IMMT;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=rs8244|rs17431880|rs17849575|rs8244;dbNSFP_SIFT_pred=.;dbNSFP_aapos=450;dbNSFP_1000Gp1_AFR_AF=0.06504065040650407;dbNSFP_1000Gp1_AFR_AC=32;dbNSFP_refcodon=AGT;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=620;dbNSFP_1000Gp1_AF=0.2838827838827839;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=ENST00000419070;dbNSFP_ESP6500_AA_AF=0.11261;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=T;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=0.4630606860158311;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=351	GT:AD:DP:GQ:PL	1/1:0,914:914:99:20474,1632,0
chr2	86422660	rs9309632	C	T	2663.0	PASS	AC=2;AF=1.00;AN=2;DB;DP=69;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=2;MLEAF=1.00;MQ=43.97;MQ0=0;QD=38.59;SB=-6.519e-03;set=variant29;EFF=UPSTREAM(MODIFIER||102|||ENSG00000132305|retained_intron|CODING|ENST00000474969||1),UPSTREAM(MODIFIER||104||711|ENSG00000132305|protein_coding|CODING|ENST00000409051||1),UPSTREAM(MODIFIER||104|||ENSG00000132305|nonsense_mediated_decay|CODING|ENST00000409258||1),UPSTREAM(MODIFIER||134||757|ENSG00000132305|protein_coding|CODING|ENST00000442664||1),UPSTREAM(MODIFIER||2429|||ENSG00000265420|miRNA|NON_CODING|ENST00000579234||1),UPSTREAM(MODIFIER||3920||170|ENSG00000132313|protein_coding|CODING|ENST00000254644||1),UPSTREAM(MODIFIER||3920||188|ENSG00000132313|protein_coding|CODING|ENST00000337109||1),UPSTREAM(MODIFIER||3926||177|ENSG00000132313|protein_coding|CODING|ENST00000409180||1),UPSTREAM(MODIFIER||535||659|ENSG00000132305|protein_coding|CODING|ENST00000254636||1),UPSTREAM(MODIFIER||65||747|ENSG00000132305|protein_coding|CODING|ENST00000449247||1),UPSTREAM(MODIFIER||87|||ENSG00000132305|retained_intron|CODING|ENST00000486633||1),UTR_5_PRIME(MODIFIER||||758|ENSG00000132305|protein_coding|CODING|ENST00000410111|1|1)	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2696,208,0
chr2	86433240	rs10901	C	T	13592.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=591;Dels=0.00;FS=0.000;HaplotypeScore=3.9100;MLEAC=2;MLEAF=1.00;MQ=27.14;MQ0=0;QD=23.00;SB=-3.036e+03;set=variant29;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|p.Pro19Ser/c.55C>T|170|ENSG00000132313|protein_coding|CODING|ENST00000254644|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|p.Pro19Ser/c.55C>T|177|ENSG00000132313|protein_coding|CODING|ENST00000409180|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ccc/Tcc|p.Pro19Ser/c.55C>T|188|ENSG00000132313|protein_coding|CODING|ENST00000337109|2|1);dbNSFP_FATHMM_score_converted=0.3141576391483003;dbNSFP_GERP++_RS=4.74;dbNSFP_1000Gp1_ASN_AF=0.12062937062937062;dbNSFP_Ensembl_geneid=ENSG00000132313;dbNSFP_FATHMM_score=2.23;dbNSFP_1000Gp1_ASN_AC=69;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=10.6449;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=0.0376122;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=2.295;dbNSFP_1000Gp1_AMR_AC=121;dbNSFP_ESP6500_EA_AF=0.505;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.0:0.912:0.0:0.088;dbNSFP_LRT_Omega=0.096882;dbNSFP_1000Gp1_AMR_AF=0.3342541436464088;dbNSFP_GERP++_NR=5.62;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=M;dbNSFP_LRT_score=0.000001;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.9999995;dbNSFP_phyloP=1.527000;dbNSFP_genename=MRPL35;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.6699999999999999;dbNSFP_Uniprot_acc=Q9NZE8;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.192;dbNSFP_UniSNP_ids=rs12714176|rs17845611|rs17858541|rs52836017|rs57050204|rs12714176;dbNSFP_SIFT_pred=T;dbNSFP_aapos=19;dbNSFP_1000Gp1_AFR_AF=0.06097560975609756;dbNSFP_1000Gp1_AFR_AC=30;dbNSFP_refcodon=CCC;dbNSFP_Uniprot_aapos=19;dbNSFP_1000Gp1_AC=571;dbNSFP_1000Gp1_AF=0.26144688644688646;dbNSFP_SIFT_score=0.330000;dbNSFP_Uniprot_id=RM35_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000254644|ENST00000337109|ENST00000409180;dbNSFP_ESP6500_AA_AF=0.112801;dbNSFP_Polyphen2_HVAR_score=0.033;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.4630606860158311;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=0.6805555555555556;dbNSFP_1000Gp1_EUR_AC=351	GT:AD:DP:GQ:PL	1/1:0,591:591:99:13592,1544,0
chr2	99778985	rs2632277	T	C	13362.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-14.980;DB;DP=1206;Dels=0.00;FS=2.485;HaplotypeScore=12.6869;MLEAC=1;MLEAF=0.500;MQ=43.46;MQ0=0;MQRankSum=1.551;QD=11.08;ReadPosRankSum=-1.474;SB=-1.033e+04;set=variant29;EFF=DOWNSTREAM(MODIFIER||159||134|ENSG00000144182|protein_coding|CODING|ENST00000449211||1),DOWNSTREAM(MODIFIER||247||105|ENSG00000144182|protein_coding|CODING|ENST00000415142||1),DOWNSTREAM(MODIFIER||447||38|ENSG00000144182|protein_coding|CODING|ENST00000436234||1),INTRON(MODIFIER||||131|ENSG00000185414|protein_coding|CODING|ENST00000410042|2|1),INTRON(MODIFIER||||231|ENSG00000158411|protein_coding|CODING|ENST00000422537|7|1),INTRON(MODIFIER|||||ENSG00000158411|processed_transcript|CODING|ENST00000487588|3|1),INTRON(MODIFIER|||||ENSG00000241962|nonsense_mediated_decay|CODING|ENST00000424491|4|1),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|p.Leu189Leu/c.565T>C|250|ENSG00000144182|protein_coding|CODING|ENST00000434566|3|1|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|p.Leu189Leu/c.565T>C|373|ENSG00000144182|protein_coding|CODING|ENST00000340066|3|1),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|p.Leu189Leu/c.565T>C|373|ENSG00000144182|protein_coding|CODING|ENST00000393471|2|1),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|p.Leu189Leu/c.565T>C|373|ENSG00000144182|protein_coding|CODING|ENST00000393473|3|1),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|p.Leu189Leu/c.565T>C|373|ENSG00000144182|protein_coding|CODING|ENST00000393474|4|1),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|p.Leu189Leu/c.565T>C|373|ENSG00000144182|protein_coding|CODING|ENST00000393477|4|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:590,616:1206:99:13362,0,12527
chr2	99779131	rs2516835	T	C	6759.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-7.865;DB;DP=420;Dels=0.00;FS=2.607;HaplotypeScore=4.8989;MLEAC=1;MLEAF=0.500;MQ=39.11;MQ0=0;MQRankSum=-0.053;QD=16.09;ReadPosRankSum=1.693;SB=-3.155e+03;set=variant29;EFF=DOWNSTREAM(MODIFIER||305||134|ENSG00000144182|protein_coding|CODING|ENST00000449211||1),DOWNSTREAM(MODIFIER||393||105|ENSG00000144182|protein_coding|CODING|ENST00000415142||1),DOWNSTREAM(MODIFIER||593||38|ENSG00000144182|protein_coding|CODING|ENST00000436234||1),INTRON(MODIFIER||||131|ENSG00000185414|protein_coding|CODING|ENST00000410042|2|1),INTRON(MODIFIER||||231|ENSG00000158411|protein_coding|CODING|ENST00000422537|7|1),INTRON(MODIFIER|||||ENSG00000158411|processed_transcript|CODING|ENST00000487588|3|1),INTRON(MODIFIER|||||ENSG00000241962|nonsense_mediated_decay|CODING|ENST00000424491|4|1),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|p.Ala237Ala/c.711T>C|250|ENSG00000144182|protein_coding|CODING|ENST00000434566|3|1|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|p.Ala237Ala/c.711T>C|373|ENSG00000144182|protein_coding|CODING|ENST00000340066|3|1),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|p.Ala237Ala/c.711T>C|373|ENSG00000144182|protein_coding|CODING|ENST00000393471|2|1),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|p.Ala237Ala/c.711T>C|373|ENSG00000144182|protein_coding|CODING|ENST00000393473|3|1),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|p.Ala237Ala/c.711T>C|373|ENSG00000144182|protein_coding|CODING|ENST00000393474|4|1),SYNONYMOUS_CODING(LOW|SILENT|gcT/gcC|p.Ala237Ala/c.711T>C|373|ENSG00000144182|protein_coding|CODING|ENST00000393477|4|1)	GT:AD:DP:GQ:PL	0/1:196,224:420:99:6759,0,5856
chr2	99812070	rs1044575	G	A	14494.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-12.025;DB;DP=1047;Dels=0.00;FS=8.736;HaplotypeScore=1.8947;MLEAC=1;MLEAF=0.500;MQ=35.19;MQ0=0;MQRankSum=-12.295;QD=13.84;ReadPosRankSum=-0.117;SB=-2.707e+03;set=variant29;EFF=DOWNSTREAM(MODIFIER||309||131|ENSG00000185414|protein_coding|CODING|ENST00000410042||1),DOWNSTREAM(MODIFIER||309|||ENSG00000185414|retained_intron|CODING|ENST00000476721||1),DOWNSTREAM(MODIFIER||429|||ENSG00000185414|processed_transcript|CODING|ENST00000473743||1),DOWNSTREAM(MODIFIER||518||101|ENSG00000185414|protein_coding|CODING|ENST00000409145||1),EXON(MODIFIER|||||ENSG00000185414|nonsense_mediated_decay|CODING|ENST00000409841|5|1),EXON(MODIFIER|||||ENSG00000185414|processed_transcript|CODING|ENST00000465432|4|1),EXON(MODIFIER|||||ENSG00000241962|nonsense_mediated_decay|CODING|ENST00000424491|9|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|p.Ala130Thr/c.388G>A|161|ENSG00000185414|protein_coding|CODING|ENST00000338148|6|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gca/Aca|p.Ala130Thr/c.388G>A|161|ENSG00000241962|protein_coding|CODING|ENST00000512183|6|1);dbNSFP_FATHMM_score_converted=0.35450130743369457;dbNSFP_GERP++_RS=-2.19;dbNSFP_1000Gp1_ASN_AF=0.8828671328671329;dbNSFP_Ensembl_geneid=ENSG00000241962|ENSG00000241962|ENSG00000185414|ENSG00000185414;dbNSFP_FATHMM_score=1.15;dbNSFP_1000Gp1_ASN_AC=505;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=6.003;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=0.999994;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=-0.715;dbNSFP_1000Gp1_AMR_AC=237;dbNSFP_ESP6500_EA_AF=0.650698;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.5123:0.0:0.3646:0.1231;dbNSFP_LRT_Omega=0.232503;dbNSFP_1000Gp1_AMR_AF=0.6546961325966851;dbNSFP_GERP++_NR=4.11;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.000439;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.9997805;dbNSFP_phyloP=-0.764000;dbNSFP_genename=C2orf15|MRPL30;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.0;dbNSFP_Uniprot_acc=Q8TCC3;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.0;dbNSFP_UniSNP_ids=rs1044575|rs1062833;dbNSFP_SIFT_pred=T;dbNSFP_aapos=130|143|130|130;dbNSFP_1000Gp1_AFR_AF=0.48577235772357724;dbNSFP_1000Gp1_AFR_AC=239;dbNSFP_refcodon=GCA;dbNSFP_Uniprot_aapos=130;dbNSFP_1000Gp1_AC=1451;dbNSFP_1000Gp1_AF=0.6643772893772893;dbNSFP_SIFT_score=1.000000;dbNSFP_Uniprot_id=RM30_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000512183|ENST00000308644|ENST00000338148|ENST00000409841;dbNSFP_ESP6500_AA_AF=0.54108;dbNSFP_Polyphen2_HVAR_score=0.0;dbNSFP_Ancestral_allele=A;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.6200527704485488;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=0.41927083333333337;dbNSFP_1000Gp1_EUR_AC=470	GT:AD:DP:GQ:PL	0/1:513,534:1047:99:14494,0,14791
chr2	105709023	rs6543282	T	C	9916.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=300;Dels=0.00;FS=0.000;HaplotypeScore=0.9469;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=33.05;SB=-4.211e+03;set=variant29;EFF=DOWNSTREAM(MODIFIER||4487|||ENSG00000231851|antisense|NON_CODING|ENST00000432211||1),DOWNSTREAM(MODIFIER||4495|||ENSG00000231851|antisense|NON_CODING|ENST00000449177||1),EXON(MODIFIER|||||ENSG00000135972|retained_intron|CODING|ENST00000472220|1|1),SYNONYMOUS_CODING(LOW|SILENT|agT/agC|p.Ser272Ser/c.816T>C|396|ENSG00000135972|protein_coding|CODING|ENST00000258455|8|1),UTR_3_PRIME(MODIFIER|||||ENSG00000135972|nonsense_mediated_decay|CODING|ENST00000413583|4|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	1/1:0,300:300:99:9916,713,0
chr2	143798189	rs9013	A	G	16681.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-12.550;DB;DP=1471;Dels=0.00;FS=2.820;HaplotypeScore=0.9993;MLEAC=1;MLEAF=0.500;MQ=39.19;MQ0=0;MQRankSum=-9.070;QD=11.34;ReadPosRankSum=0.237;SB=-9.279e+03;set=variant29;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|p.Lys412Glu/c.1234A>G|465|ENSG00000115919|protein_coding|CODING|ENST00000264170|13|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|p.Lys412Glu/c.1234A>G|465|ENSG00000115919|protein_coding|CODING|ENST00000409512|14|1);dbNSFP_FATHMM_score_converted=0.3739260366081435;dbNSFP_GERP++_RS=4.36;dbNSFP_1000Gp1_ASN_AF=0.28146853146853146;dbNSFP_Ensembl_geneid=ENSG00000115919;dbNSFP_FATHMM_score=0.63;dbNSFP_1000Gp1_ASN_AC=161;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=12.6349;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=0.999995;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=0.99;dbNSFP_1000Gp1_AMR_AC=41;dbNSFP_ESP6500_EA_AF=0.172209;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.8614:0.1386:0.0:0.0;dbNSFP_LRT_Omega=0.537909;dbNSFP_1000Gp1_AMR_AF=0.1132596685082873;dbNSFP_GERP++_NR=5.54;dbNSFP_Interpro_domain=Pyridoxal_phosphate-dependent_transferase|_major_region|_subdomain_2_(1)|Pyridoxal_phosphate-dependent_transferase|_major_domain_(1)|;dbNSFP_MutationAssessor_pred=L;dbNSFP_LRT_score=0.070493;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.9647535;dbNSFP_phyloP=0.904000;dbNSFP_genename=KYNU;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.0;dbNSFP_Uniprot_acc=Q16719;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.0;dbNSFP_UniSNP_ids=rs9013|rs1058039|rs2070091|rs3204588|rs11548541|rs17342017|rs17349746|rs61368383|rs9013;dbNSFP_SIFT_pred=T;dbNSFP_aapos=412;dbNSFP_1000Gp1_AFR_AF=0.13821138211382114;dbNSFP_1000Gp1_AFR_AC=68;dbNSFP_refcodon=AAA;dbNSFP_Uniprot_aapos=412;dbNSFP_1000Gp1_AC=401;dbNSFP_1000Gp1_AF=0.18360805860805862;dbNSFP_SIFT_score=1.000000;dbNSFP_Uniprot_id=KYNU_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000264170|ENST00000409512;dbNSFP_ESP6500_AA_AF=0.139355;dbNSFP_Polyphen2_HVAR_score=0.001;dbNSFP_Ancestral_allele=A;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.17282321899736147;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=0.5672743055555556;dbNSFP_1000Gp1_EUR_AC=131	GT:AD:DP:GQ:PL	0/1:709,762:1471:99:16681,0,15638
chr2	157406249	rs2116665	G	A	16330.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=629;Dels=0.00;FS=0.000;HaplotypeScore=13.0739;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=25.96;SB=-1.012e+04;set=variant29;EFF=EXON(MODIFIER|||||ENSG00000115159|nonsense_mediated_decay|CODING|ENST00000409861|7|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|p.Arg264His/c.791G>A|379|ENSG00000115159|protein_coding|CODING|ENST00000540309|7|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|p.Arg264His/c.791G>A|727|ENSG00000115159|protein_coding|CODING|ENST00000310454|7|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|p.Arg264His/c.791G>A|727|ENSG00000115159|protein_coding|CODING|ENST00000409674|7|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|p.Arg264His/c.791G>A|727|ENSG00000115159|protein_coding|CODING|ENST00000438166|7|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|p.Arg37His/c.110G>A|500|ENSG00000115159|protein_coding|CODING|ENST00000409125|3|1);dbNSFP_FATHMM_score_converted=0.4075457601793052;dbNSFP_GERP++_RS=3.17;dbNSFP_1000Gp1_ASN_AF=0.7709790209790209;dbNSFP_Ensembl_geneid=ENSG00000115159;dbNSFP_FATHMM_score=-0.27;dbNSFP_1000Gp1_ASN_AC=441;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=10.1454;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=0.127652;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=1.61;dbNSFP_1000Gp1_AMR_AC=241;dbNSFP_ESP6500_EA_AF=0.709535;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.2664:0.0:0.7336:0.0;dbNSFP_LRT_Omega=0.321794;dbNSFP_1000Gp1_AMR_AF=0.6657458563535912;dbNSFP_GERP++_NR=5.91;dbNSFP_Interpro_domain=FAD_dependent_oxidoreductase_(1)|;dbNSFP_MutationAssessor_pred=L;dbNSFP_LRT_score=0.001700;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=0.99915;dbNSFP_phyloP=0.412000;dbNSFP_genename=GPD2;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.92;dbNSFP_Uniprot_acc=P43304;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=0.02;dbNSFP_UniSNP_ids=rs2116665|rs2228475|rs17847134|rs17858516|rs2116665;dbNSFP_SIFT_pred=T;dbNSFP_aapos=264|37|264|264|264;dbNSFP_1000Gp1_AFR_AF=0.4634146341463415;dbNSFP_1000Gp1_AFR_AC=228;dbNSFP_refcodon=CGT;dbNSFP_Uniprot_aapos=264;dbNSFP_1000Gp1_AC=1431;dbNSFP_1000Gp1_AF=0.6552197802197802;dbNSFP_SIFT_score=0.080000;dbNSFP_Uniprot_id=GPDM_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000310454|ENST00000409125|ENST00000438166|ENST00000540309|ENST00000409674;dbNSFP_ESP6500_AA_AF=0.475034;dbNSFP_Polyphen2_HVAR_score=0.013;dbNSFP_Ancestral_allele=G;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.6873350923482849;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=0.62109375;dbNSFP_1000Gp1_EUR_AC=521	GT:AD:DP:GQ:PL	1/1:0,629:629:99:16330,1144,0
chr2	171678625	rs11542313	T	C	599.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-2.092;DB;DP=124;Dels=0.00;FS=0.000;HaplotypeScore=1.7998;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.934;QD=4.83;ReadPosRankSum=-0.475;SB=-5.090e+02;set=variant29;EFF=EXON(MODIFIER|||||ENSG00000128683|nonsense_mediated_decay|CODING|ENST00000414527|2|1),EXON(MODIFIER|||||ENSG00000128683|nonsense_mediated_decay|CODING|ENST00000493875|2|1),EXON(MODIFIER|||||ENSG00000128683|processed_transcript|CODING|ENST00000429023|2|1),EXON(MODIFIER|||||ENSG00000128683|retained_intron|CODING|ENST00000485013|1|1),EXON(MODIFIER|||||ENSG00000128683|retained_intron|CODING|ENST00000486850|1|1),SYNONYMOUS_CODING(LOW|SILENT|caT/caC|p.His37His/c.111T>C|114|ENSG00000128683|protein_coding|CODING|ENST00000455008|3|1|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|caT/caC|p.His37His/c.111T>C|120|ENSG00000128683|protein_coding|CODING|ENST00000456864|3|1),SYNONYMOUS_CODING(LOW|SILENT|caT/caC|p.His37His/c.111T>C|224|ENSG00000128683|protein_coding|CODING|ENST00000344257|3|1),SYNONYMOUS_CODING(LOW|SILENT|caT/caC|p.His37His/c.111T>C|224|ENSG00000128683|protein_coding|CODING|ENST00000375272|3|1),SYNONYMOUS_CODING(LOW|SILENT|caT/caC|p.His37His/c.111T>C|36|ENSG00000128683|protein_coding|CODING|ENST00000445006|4|1|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|caT/caC|p.His37His/c.111T>C|594|ENSG00000128683|protein_coding|CODING|ENST00000358196|3|1),SYNONYMOUS_CODING(LOW|SILENT|caT/caC|p.His37His/c.111T>C|84|ENSG00000128683|protein_coding|CODING|ENST00000454603|3|1|WARNING_TRANSCRIPT_INCOMPLETE),UPSTREAM(MODIFIER||4078|||ENSG00000235934|antisense|NON_CODING|ENST00000455988||1),UPSTREAM(MODIFIER||4220|||ENSG00000235934|antisense|NON_CODING|ENST00000418106||1),UPSTREAM(MODIFIER||4943|||ENSG00000235934|antisense|NON_CODING|ENST00000451730||1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:87,37:124:99:629,0,1881
chr2	172725301	rs1878583	A	G	7942.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=224;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=2;MLEAF=1.00;MQ=43.97;MQ0=0;QD=35.46;SB=-3.206e+03;set=variant29;EFF=EXON(MODIFIER|||||ENSG00000115840|nonsense_mediated_decay|CODING|ENST00000263812|3|1),EXON(MODIFIER|||||ENSG00000115840|nonsense_mediated_decay|CODING|ENST00000426896|3|1),EXON(MODIFIER|||||ENSG00000115840|nonsense_mediated_decay|CODING|ENST00000475360|2|1),EXON(MODIFIER|||||ENSG00000115840|processed_transcript|CODING|ENST00000464063|4|1),EXON(MODIFIER|||||ENSG00000115840|processed_transcript|CODING|ENST00000472748|3|1),EXON(MODIFIER|||||ENSG00000115840|processed_transcript|CODING|ENST00000484227|4|1),SYNONYMOUS_CODING(LOW|SILENT|taT/taC|p.Tyr33Tyr/c.99T>C|678|ENSG00000115840|protein_coding|CODING|ENST00000422440|3|1),UTR_5_PRIME(MODIFIER||||571|ENSG00000115840|protein_coding|CODING|ENST00000392592|3|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	1/1:0,224:224:99:7942,563,0
chr2	176043618	rs268223	C	T	1458.0	PASS	AC=2;AF=1.00;AN=2;DB;DP=36;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=40.50;SB=-6.519e-03;set=variant29;EFF=DOWNSTREAM(MODIFIER||755|||ENSG00000154518|retained_intron|CODING|ENST00000472782||1),EXON(MODIFIER|||||ENSG00000154518|retained_intron|CODING|ENST00000497075|4|1),INTRON(MODIFIER||||142|ENSG00000154518|protein_coding|CODING|ENST00000284727|4|1),INTRON(MODIFIER||||142|ENSG00000154518|protein_coding|CODING|ENST00000392541|3|1),INTRON(MODIFIER||||142|ENSG00000154518|protein_coding|CODING|ENST00000409194|4|1),UPSTREAM(MODIFIER||2300|||ENSG00000200121|misc_RNA|NON_CODING|ENST00000363251||1)	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1491,108,0
chr2	176046257	rs268227	C	T	5325.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=137;Dels=0.00;FS=0.000;HaplotypeScore=3.7101;MLEAC=2;MLEAF=1.00;MQ=39.64;MQ0=0;QD=38.87;SB=-6.519e-03;set=variant29;EFF=INTRON(MODIFIER||||142|ENSG00000154518|protein_coding|CODING|ENST00000284727|1|1),INTRON(MODIFIER||||142|ENSG00000154518|protein_coding|CODING|ENST00000409194|1|1),INTRON(MODIFIER|||||ENSG00000154518|retained_intron|CODING|ENST00000472782|1|1),INTRON(MODIFIER|||||ENSG00000154518|retained_intron|CODING|ENST00000497075|1|1),UPSTREAM(MODIFIER||2686|||ENSG00000233131|processed_pseudogene|NON_CODING|ENST00000416186||1),UPSTREAM(MODIFIER||4939|||ENSG00000200121|misc_RNA|NON_CODING|ENST00000363251||1),UTR_5_PRIME(MODIFIER||||142|ENSG00000154518|protein_coding|CODING|ENST00000392541|1|1)	GT:AD:DP:GQ:PL	1/1:0,137:137:99:5325,397,0
chr2	178257391	rs113671272	G	A	1175.0	PASS	AC=2;AF=1.00;AN=2;DB;DP=31;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=37.90;SB=-6.519e-03;set=variant29;EFF=EXON(MODIFIER|||||ENSG00000213963|processed_transcript|NON_CODING|ENST00000397057|1|1),EXON(MODIFIER|||||ENSG00000213963|processed_transcript|NON_CODING|ENST00000447413|1|1),EXON(MODIFIER|||||ENSG00000213963|processed_transcript|NON_CODING|ENST00000456746|1|1),UPSTREAM(MODIFIER||105||189|ENSG00000018510|protein_coding|CODING|ENST00000409888||1),UTR_5_PRIME(MODIFIER||||589|ENSG00000116044|protein_coding|CODING|ENST00000464747|1|1),UTR_5_PRIME(MODIFIER||||658|ENSG00000018510|protein_coding|CODING|ENST00000264167|1|1)	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1208,93,0
chr2	190617643	rs2243876	A	G	10731.01	PASS	AC=2;AF=1.00;AN=2;BaseQRankSum=-1.234;DB;DP=482;Dels=0.00;FS=0.000;HaplotypeScore=4.8991;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;MQRankSum=0.974;QD=22.26;ReadPosRankSum=-0.374;SB=-9.047e+03;set=variant29;EFF=DOWNSTREAM(MODIFIER||1370||221|ENSG00000128694|protein_coding|CODING|ENST00000517895||1),DOWNSTREAM(MODIFIER||1398|||ENSG00000128694|retained_intron|CODING|ENST00000518114||1),DOWNSTREAM(MODIFIER||2256||202|ENSG00000128694|protein_coding|CODING|ENST00000521630||1),DOWNSTREAM(MODIFIER||999||173|ENSG00000128694|protein_coding|CODING|ENST00000520350||1),EXON(MODIFIER|||||ENSG00000128694|retained_intron|CODING|ENST00000524043|4|1),INTRON(MODIFIER|||||ENSG00000151687|nonsense_mediated_decay|CODING|ENST00000441800|18|1),INTRON(MODIFIER|||||ENSG00000151687|processed_transcript|CODING|ENST00000476208|3|1),SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|p.Asn342Asn/c.1026T>C|364|ENSG00000128694|protein_coding|CODING|ENST00000519810|7|1),SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|p.Asn342Asn/c.1026T>C|414|ENSG00000128694|protein_coding|CODING|ENST00000264151|6|1),SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|p.Asn342Asn/c.1026T>C|414|ENSG00000128694|protein_coding|CODING|ENST00000522700|6|1),UPSTREAM(MODIFIER||547|||ENSG00000223249|misc_RNA|NON_CODING|ENST00000411317||1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	1/1:2,480:482:99:10731,687,0
chr2	191161622	rs1058180	T	C	15004.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=658;Dels=0.00;FS=0.000;HaplotypeScore=6.7815;MLEAC=2;MLEAF=1.00;MQ=39.21;MQ0=0;QD=22.80;SB=-1.182e+04;set=variant29;EFF=NEXT_PROT[beta_strand](LOW||||338|ENSG00000198130|protein_coding|CODING|ENST00000392332|3|1),NEXT_PROT[beta_strand](LOW||||386|ENSG00000198130|protein_coding|CODING|ENST00000359678|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acg/Gcg|p.Thr100Ala/c.298A>G|272|ENSG00000198130|protein_coding|CODING|ENST00000409934|3|1|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acg/Gcg|p.Thr46Ala/c.136A>G|338|ENSG00000198130|protein_coding|CODING|ENST00000392332|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Acg/Gcg|p.Thr46Ala/c.136A>G|386|ENSG00000198130|protein_coding|CODING|ENST00000359678|3|1);dbNSFP_FATHMM_score_converted=0.4191258871871498;dbNSFP_GERP++_RS=5.33;dbNSFP_1000Gp1_ASN_AF=0.534965034965035;dbNSFP_Ensembl_geneid=ENSG00000198130;dbNSFP_FATHMM_score=-0.58;dbNSFP_1000Gp1_ASN_AC=306;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=12.0375;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=5.92483e-23;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=-1.01;dbNSFP_1000Gp1_AMR_AC=272;dbNSFP_ESP6500_EA_AF=0.759302;dbNSFP_LRT_pred=N;dbNSFP_29way_pi=0.0:0.9158:0.0:0.0842;dbNSFP_LRT_Omega=0.096235;dbNSFP_1000Gp1_AMR_AF=0.7513812154696132;dbNSFP_GERP++_NR=5.33;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=N;dbNSFP_LRT_score=0.000001;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.9999995;dbNSFP_phyloP=1.274000;dbNSFP_genename=HIBCH;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.12;dbNSFP_Uniprot_acc=Q6NVY1-2|Q6NVY1;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.0|0.0;dbNSFP_UniSNP_ids=rs1058180|rs3198778|rs3749019|rs17845047|rs17857824|rs52790607|rs56722526|rs1058180;dbNSFP_SIFT_pred=T;dbNSFP_aapos=46|46|100;dbNSFP_1000Gp1_AFR_AF=0.6260162601626016;dbNSFP_1000Gp1_AFR_AC=308;dbNSFP_refcodon=ACG;dbNSFP_Uniprot_aapos=46|46;dbNSFP_1000Gp1_AC=1458;dbNSFP_1000Gp1_AF=0.6675824175824175;dbNSFP_SIFT_score=0.880000;dbNSFP_Uniprot_id=.|HIBCH_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000392332|ENST00000359678|ENST00000409934;dbNSFP_ESP6500_AA_AF=0.655697;dbNSFP_Polyphen2_HVAR_score=0.0|0.0;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=B|B;dbNSFP_1000Gp1_EUR_AF=0.7546174142480211;dbNSFP_Polyphen2_HVAR_pred=B|B;dbNSFP_MutationAssessor_score_converted=0.3936631944444445;dbNSFP_1000Gp1_EUR_AC=572	GT:AD:DP:GQ:PL	1/1:0,658:658:99:15004,1020,0
chr2	191184475	rs291466	A	G	8132.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-0.042;DB;DP=758;Dels=0.00;FS=0.260;HaplotypeScore=8.1293;MLEAC=1;MLEAF=0.500;MQ=42.13;MQ0=0;MQRankSum=17.275;QD=10.73;ReadPosRankSum=-0.824;SB=-5.021e+03;set=variant29;EFF=INTRON(MODIFIER||||272|ENSG00000198130|protein_coding|CODING|ENST00000409934|1|1),NEXT_PROT[transit_peptide:Mitochondrion](LOW||||338|ENSG00000198130|protein_coding|CODING|ENST00000392332|1|1),NEXT_PROT[transit_peptide:Mitochondrion](LOW||||338|ENSG00000198130|protein_coding|CODING|ENST00000392332|2|1),NEXT_PROT[transit_peptide:Mitochondrion](LOW||||338|ENSG00000198130|protein_coding|CODING|ENST00000392332|3|1),NEXT_PROT[transit_peptide:Mitochondrion](LOW||||386|ENSG00000198130|protein_coding|CODING|ENST00000359678|1|1),NEXT_PROT[transit_peptide:Mitochondrion](LOW||||386|ENSG00000198130|protein_coding|CODING|ENST00000359678|2|1),NEXT_PROT[transit_peptide:Mitochondrion](LOW||||386|ENSG00000198130|protein_coding|CODING|ENST00000359678|3|1),START_LOST(HIGH|MISSENSE|aTg/aCg|p.Met1?/c.2T>C|338|ENSG00000198130|protein_coding|CODING|ENST00000392332|1|1),START_LOST(HIGH|MISSENSE|aTg/aCg|p.Met1?/c.2T>C|386|ENSG00000198130|protein_coding|CODING|ENST00000359678|1|1);LOF=(HIBCH|ENSG00000198130|14|0.14);dbNSFP_FATHMM_score_converted=0.38027642883825175;dbNSFP_GERP++_RS=3.88;dbNSFP_1000Gp1_ASN_AF=0.13986013986013987;dbNSFP_Ensembl_geneid=ENSG00000198130;dbNSFP_FATHMM_score=0.46;dbNSFP_1000Gp1_ASN_AC=80;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=9.3695;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=8.79032e-07;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=135;dbNSFP_ESP6500_EA_AF=0.601163;dbNSFP_LRT_pred=U;dbNSFP_29way_pi=1.0:0.0:0.0:0.0;dbNSFP_LRT_Omega=0.089786;dbNSFP_1000Gp1_AMR_AF=0.3729281767955801;dbNSFP_GERP++_NR=3.88;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=0.004201;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=0.9978995;dbNSFP_phyloP=1.988000;dbNSFP_genename=HIBCH;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.99;dbNSFP_Uniprot_acc=Q6NVY1-2|Q6NVY1;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=0.065|0.039;dbNSFP_UniSNP_ids=rs291466|rs3749021|rs52816500|rs291466;dbNSFP_SIFT_pred=D;dbNSFP_aapos=1;dbNSFP_1000Gp1_AFR_AF=0.44308943089430897;dbNSFP_1000Gp1_AFR_AC=218;dbNSFP_refcodon=ATG;dbNSFP_Uniprot_aapos=1|1;dbNSFP_1000Gp1_AC=877;dbNSFP_1000Gp1_AF=0.4015567765567766;dbNSFP_SIFT_score=0.010000;dbNSFP_Uniprot_id=.|HIBCH_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000392332|ENST00000359678;dbNSFP_ESP6500_AA_AF=0.455742;dbNSFP_Polyphen2_HVAR_score=0.04|0.018;dbNSFP_Ancestral_allele=A;dbNSFP_Polyphen2_HDIV_pred=B|B;dbNSFP_1000Gp1_EUR_AF=0.5857519788918206;dbNSFP_Polyphen2_HVAR_pred=B|B;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=444	GT:AD:DP:GQ:PL	0/1:395,360:758:99:8132,0,9416
chr2	191184524	rs3749022	C	T	2813.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=3.889;DB;DP=172;Dels=0.00;FS=2.499;HaplotypeScore=1.9965;MLEAC=1;MLEAF=0.500;MQ=43.95;MQ0=0;MQRankSum=-1.327;QD=16.35;ReadPosRankSum=-0.662;SB=-6.170e+02;set=variant29;EFF=INTRON(MODIFIER||||272|ENSG00000198130|protein_coding|CODING|ENST00000409934|1|1),UTR_5_PRIME(MODIFIER||||338|ENSG00000198130|protein_coding|CODING|ENST00000392332|1|1),UTR_5_PRIME(MODIFIER||||386|ENSG00000198130|protein_coding|CODING|ENST00000359678|1|1)	GT:AD:DP:GQ:PL	0/1:89,83:172:99:2843,0,2988
chr2	198351804	rs41265953	C	G	1288.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=7.985;DB;DP=167;Dels=0.00;FS=9.675;HaplotypeScore=0.0000;MLEAC=1;MLEAF=0.500;MQ=26.02;MQ0=0;MQRankSum=-10.134;QD=7.71;ReadPosRankSum=0.863;SB=-6.801e+01;set=variant29;EFF=DOWNSTREAM(MODIFIER||894|||ENSG00000144381|retained_intron|CODING|ENST00000491249||1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gCa|p.Gly563Ala/c.1688G>C|573|ENSG00000144381|protein_coding|CODING|ENST00000345042|12|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gGa/gCa|p.Gly563Ala/c.1688G>C|573|ENSG00000144381|protein_coding|CODING|ENST00000388968|12|1);dbNSFP_FATHMM_score_converted=0.4254762794172582;dbNSFP_GERP++_RS=5.22;dbNSFP_1000Gp1_ASN_AF=0.0;dbNSFP_Ensembl_geneid=ENSG00000144381;dbNSFP_FATHMM_score=-0.75;dbNSFP_1000Gp1_ASN_AC=0;dbNSFP_MutationTaster_pred=D;dbNSFP_29way_logOdds=19.2003;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=1.74;dbNSFP_1000Gp1_AMR_AC=6;dbNSFP_ESP6500_EA_AF=0.016949;dbNSFP_LRT_pred=D;dbNSFP_29way_pi=0.0:1.0:0.0:0.0;dbNSFP_LRT_Omega=0.000000;dbNSFP_1000Gp1_AMR_AF=0.016574585635359115;dbNSFP_GERP++_NR=5.22;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=L;dbNSFP_LRT_score=0.000000;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=1.0;dbNSFP_phyloP=2.612000;dbNSFP_genename=HSPD1;dbNSFP_MutationTaster_score_converted=1.0;dbNSFP_SIFT_score_converted=1.0;dbNSFP_Uniprot_acc=B7Z597|B3GQS7|P10809;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=0.999|0.999|0.999;dbNSFP_UniSNP_ids=rs41265953|rs61752176;dbNSFP_SIFT_pred=D;dbNSFP_aapos=563;dbNSFP_1000Gp1_AFR_AF=0.0;dbNSFP_1000Gp1_AFR_AC=0;dbNSFP_refcodon=GGA;dbNSFP_Uniprot_aapos=554|563|563;dbNSFP_1000Gp1_AC=29;dbNSFP_1000Gp1_AF=0.013278388278388278;dbNSFP_SIFT_score=0.000000;dbNSFP_Uniprot_id=.|.|CH60_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000388968|ENST00000345042;dbNSFP_ESP6500_AA_AF=0.003055;dbNSFP_Polyphen2_HVAR_score=0.981|0.981|0.981;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=D|D|D;dbNSFP_1000Gp1_EUR_AF=0.030343007915567283;dbNSFP_Polyphen2_HVAR_pred=D|D|D;dbNSFP_MutationAssessor_score_converted=0.6323784722222222;dbNSFP_1000Gp1_EUR_AC=23	GT:AD:DP:GQ:PL	0/1:87,80:167:99:1318,0,2542
chr2	198362018	rs8539	T	C	5789.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-7.127;DB;DP=501;Dels=0.00;FS=0.000;HaplotypeScore=2.8226;MLEAC=1;MLEAF=0.500;MQ=29.22;MQ0=0;MQRankSum=-9.739;QD=11.55;ReadPosRankSum=-1.624;SB=-6.519e-03;set=variant29;EFF=DOWNSTREAM(MODIFIER||1380||57|ENSG00000144381|protein_coding|CODING|ENST00000418022||1),DOWNSTREAM(MODIFIER||23||82|ENSG00000144381|protein_coding|CODING|ENST00000439605||1),EXON(MODIFIER|||||ENSG00000144381|retained_intron|CODING|ENST00000461097|3|1),EXON(MODIFIER|||||ENSG00000144381|retained_intron|CODING|ENST00000476746|3|1),EXON(MODIFIER|||||ENSG00000144381|retained_intron|CODING|ENST00000486181|1|1),NEXT_PROT[amino_acid_modification:N6-acetyllysine](MODERATE||||573|ENSG00000144381|protein_coding|CODING|ENST00000345042|3|1),SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|p.Lys133Lys/c.399A>G|174|ENSG00000144381|protein_coding|CODING|ENST00000426480|3|1),SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|p.Lys91Lys/c.273A>G|158|ENSG00000144381|protein_coding|CODING|ENST00000544407|3|1),SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|p.Lys91Lys/c.273A>G|220|ENSG00000144381|protein_coding|CODING|ENST00000452200|3|1),SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|p.Lys91Lys/c.273A>G|233|ENSG00000144381|protein_coding|CODING|ENST00000430176|3|1|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|p.Lys91Lys/c.273A>G|573|ENSG00000144381|protein_coding|CODING|ENST00000345042|3|1),SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|p.Lys91Lys/c.273A>G|573|ENSG00000144381|protein_coding|CODING|ENST00000388968|3|1),SYNONYMOUS_CODING(LOW|SILENT|aaA/aaG|p.Lys91Lys/c.273A>G|93|ENSG00000144381|protein_coding|CODING|ENST00000428204|4|1),UPSTREAM(MODIFIER||2700||102|ENSG00000115541|protein_coding|CODING|ENST00000233893||1),UPSTREAM(MODIFIER||2820|||ENSG00000144381|retained_intron|CODING|ENST00000482167||1),UPSTREAM(MODIFIER||2846||47|ENSG00000115541|protein_coding|CODING|ENST00000409729||1),UPSTREAM(MODIFIER||3055|||ENSG00000115541|retained_intron|CODING|ENST00000473395||1),UPSTREAM(MODIFIER||3085||101|ENSG00000115541|protein_coding|CODING|ENST00000409468||1),UPSTREAM(MODIFIER||3144|||ENSG00000115541|retained_intron|CODING|ENST00000495200||1),UPSTREAM(MODIFIER||3249|||ENSG00000115541|processed_transcript|CODING|ENST00000465573||1),UPSTREAM(MODIFIER||3588|||ENSG00000115541|retained_intron|CODING|ENST00000463841||1),UTR_3_PRIME(MODIFIER|||||ENSG00000144381|nonsense_mediated_decay|CODING|ENST00000440114|3|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:239,262:501:99:5789,0,7297
chr2	201768238	rs7917	C	T	11464.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-7.273;DB;DP=856;Dels=0.00;FS=0.000;HaplotypeScore=3.7734;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-1.082;QD=13.39;ReadPosRankSum=-0.798;SB=-3.602e+03;set=variant29;EFF=DOWNSTREAM(MODIFIER||4394|||ENSG00000252916|snRNA|NON_CODING|ENST00000517107||1),INTRON(MODIFIER||||83|ENSG00000196290|protein_coding|CODING|ENST00000436412|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctt/Ttt|p.Leu278Phe/c.832C>T|285|ENSG00000196290|protein_coding|CODING|ENST00000409588|5|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|p.Thr297Ile/c.890C>T|350|ENSG00000196290|protein_coding|CODING|ENST00000359683|7|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|p.Thr324Ile/c.971C>T|377|ENSG00000196290|protein_coding|CODING|ENST00000409020|7|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|p.Thr324Ile/c.971C>T|377|ENSG00000196290|protein_coding|CODING|ENST00000409357|8|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aCt/aTt|p.Thr324Ile/c.971C>T|377|ENSG00000196290|protein_coding|CODING|ENST00000416651|7|1);dbNSFP_FATHMM_score_converted=.,0.3574897273066866;dbNSFP_GERP++_RS=5.33;dbNSFP_1000Gp1_ASN_AF=0.005244755244755245;dbNSFP_Ensembl_geneid=ENSG00000196290;dbNSFP_FATHMM_score=.,1.07;dbNSFP_1000Gp1_ASN_AC=3;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=11.5287;dbNSFP_FATHMM_pred=.,T;dbNSFP_MutationTaster_score=0.999985;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=72;dbNSFP_ESP6500_EA_AF=0.221359;dbNSFP_LRT_pred=.,N;dbNSFP_29way_pi=0.0:0.0708:0.0:0.9292;dbNSFP_LRT_Omega=.,0.167825;dbNSFP_1000Gp1_AMR_AF=0.19889502762430938;dbNSFP_GERP++_NR=5.33;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.,0.000073;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=.,0.9999635;dbNSFP_phyloP=0.968000;dbNSFP_genename=NIF3L1;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=1.0,0.63;dbNSFP_Uniprot_acc=Q6X735,Q9GZT8;dbNSFP_codonpos=1,2;dbNSFP_Polyphen2_HDIV_score=0.0;dbNSFP_UniSNP_ids=rs7917|rs1128563|rs3177342|rs3185643|rs11555980|rs13396213|rs17349459|rs52807793|rs58476980|rs7917;dbNSFP_SIFT_pred=D,T;dbNSFP_aapos=278,324|324|297|324;dbNSFP_1000Gp1_AFR_AF=0.6199186991869918;dbNSFP_1000Gp1_AFR_AC=305;dbNSFP_refcodon=CTT,ACT;dbNSFP_Uniprot_aapos=278,324;dbNSFP_1000Gp1_AC=577;dbNSFP_1000Gp1_AF=0.2641941391941392;dbNSFP_SIFT_score=0.000000,0.370000;dbNSFP_Uniprot_id=.,NIF3L_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000409588,ENST00000416651|ENST00000409020|ENST00000359683|ENST00000409357;dbNSFP_ESP6500_AA_AF=0.578809;dbNSFP_Polyphen2_HVAR_score=0.0;dbNSFP_Ancestral_allele=T;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.2598944591029024;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=197	GT:AD:DP:GQ:PL	0/1:432,424:856:99:11464,0,11926
chr2	202122995	rs3769823	A	G	28051.01	PASS	AC=2;AF=1.00;AN=2;DB;DP=1062;Dels=0.00;FS=0.000;HaplotypeScore=4.7543;MLEAC=2;MLEAF=1.00;MQ=44.00;MQ0=0;QD=26.41;SB=-1.996e+04;set=variant29;EFF=EXON(MODIFIER|||||ENSG00000064012|nonsense_mediated_decay|CODING|ENST00000437283|1|1),INTRON(MODIFIER||||123|ENSG00000064012|protein_coding|CODING|ENST00000440732|2|1),INTRON(MODIFIER||||148|ENSG00000064012|protein_coding|CODING|ENST00000450491|2|1),INTRON(MODIFIER||||197|ENSG00000064012|protein_coding|CODING|ENST00000413726|1|1),INTRON(MODIFIER||||208|ENSG00000064012|protein_coding|CODING|ENST00000447616|1|1),INTRON(MODIFIER||||220|ENSG00000064012|protein_coding|CODING|ENST00000392266|2|1),INTRON(MODIFIER||||235|ENSG00000064012|protein_coding|CODING|ENST00000392258|2|1),INTRON(MODIFIER||||235|ENSG00000064012|protein_coding|CODING|ENST00000392259|2|1),INTRON(MODIFIER||||395|ENSG00000064012|protein_coding|CODING|ENST00000264274|2|1),INTRON(MODIFIER||||463|ENSG00000064012|protein_coding|CODING|ENST00000392263|2|1),INTRON(MODIFIER||||479|ENSG00000064012|protein_coding|CODING|ENST00000432109|2|1),INTRON(MODIFIER||||496|ENSG00000064012|protein_coding|CODING|ENST00000264275|2|1),INTRON(MODIFIER|||||ENSG00000064012|processed_transcript|CODING|ENST00000490412|1|1),INTRON(MODIFIER|||||ENSG00000064012|retained_intron|CODING|ENST00000471383|2|1),NEXT_PROT[maturation_peptide](LOW||||538|ENSG00000064012|protein_coding|CODING|ENST00000358485|1|1),NEXT_PROT[maturation_peptide](LOW||||538|ENSG00000064012|protein_coding|CODING|ENST00000358485|2|1),NEXT_PROT[maturation_peptide](LOW||||538|ENSG00000064012|protein_coding|CODING|ENST00000358485|3|1),NEXT_PROT[maturation_peptide](LOW||||538|ENSG00000064012|protein_coding|CODING|ENST00000358485|4|1),NEXT_PROT[maturation_peptide](LOW||||538|ENSG00000064012|protein_coding|CODING|ENST00000358485|5|1),NEXT_PROT[maturation_peptide](LOW||||538|ENSG00000064012|protein_coding|CODING|ENST00000358485|6|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAa/aGa|p.Lys14Arg/c.41A>G|538|ENSG00000064012|protein_coding|CODING|ENST00000358485|1|1),UPSTREAM(MODIFIER||2228||464|ENSG00000064012|protein_coding|CODING|ENST00000323492||1),UPSTREAM(MODIFIER||3684||115|ENSG00000064012|protein_coding|CODING|ENST00000429881||1),UPSTREAM(MODIFIER||52|||ENSG00000064012|retained_intron|CODING|ENST00000339403||1);dbNSFP_FATHMM_score_converted=0.2383264848711244;dbNSFP_GERP++_RS=2.78;dbNSFP_1000Gp1_ASN_AF=0.6765734265734266;dbNSFP_Ensembl_geneid=ENSG00000064012;dbNSFP_FATHMM_score=4.26;dbNSFP_1000Gp1_ASN_AC=387;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=6.1343;dbNSFP_FATHMM_pred=T;dbNSFP_MutationTaster_score=0.999814;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=217;dbNSFP_ESP6500_EA_AF=0.705882;dbNSFP_LRT_pred=U;dbNSFP_29way_pi=0.8863:0.0:0.1137:0.0;dbNSFP_LRT_Omega=7.269810;dbNSFP_1000Gp1_AMR_AF=0.5994475138121547;dbNSFP_GERP++_NR=3.94;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=0.000036;dbNSFP_cds_strand=+;dbNSFP_LRT_score_converted=1.8E-5;dbNSFP_phyloP=0.875000;dbNSFP_genename=CASP8;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.030000000000000027;dbNSFP_Uniprot_acc=Q14790-9;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=0.008;dbNSFP_UniSNP_ids=rs3769823|rs17860420|rs52838003|rs60576640|rs3769823;dbNSFP_SIFT_pred=T;dbNSFP_aapos=14;dbNSFP_1000Gp1_AFR_AF=0.6117886178861789;dbNSFP_1000Gp1_AFR_AC=301;dbNSFP_refcodon=AAA;dbNSFP_Uniprot_aapos=14;dbNSFP_1000Gp1_AC=1423;dbNSFP_1000Gp1_AF=0.6515567765567766;dbNSFP_SIFT_score=0.970000;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=ENST00000358485;dbNSFP_ESP6500_AA_AF=0.591615;dbNSFP_Polyphen2_HVAR_score=0.015;dbNSFP_Ancestral_allele=A;dbNSFP_Polyphen2_HDIV_pred=B;dbNSFP_1000Gp1_EUR_AF=0.683377308707124;dbNSFP_Polyphen2_HVAR_pred=B;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=518	GT:AD:DP:GQ:PL	1/1:0,1062:1062:99:28051,1953,0
chr2	211060050	rs2286963	T	G	2540.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=6.271;DB;DP=255;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=0.132;QD=9.96;ReadPosRankSum=-1.098;SB=-2.313e+03;set=variant29;EFF=INTRON(MODIFIER|||||ENSG00000231294|antisense|NON_CODING|ENST00000412065|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Caa|p.Lys333Gln/c.997A>C|430|ENSG00000115361|protein_coding|CODING|ENST00000233710|9|1);dbNSFP_FATHMM_score_converted=0.5450130743369443;dbNSFP_GERP++_RS=5.77;dbNSFP_1000Gp1_ASN_AF=0.18356643356643357;dbNSFP_Ensembl_geneid=ENSG00000115361;dbNSFP_FATHMM_score=-3.95;dbNSFP_1000Gp1_ASN_AC=105;dbNSFP_MutationTaster_pred=P;dbNSFP_29way_logOdds=16.1475;dbNSFP_FATHMM_pred=D;dbNSFP_MutationTaster_score=1.46162e-06;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=1.785;dbNSFP_1000Gp1_AMR_AC=100;dbNSFP_ESP6500_EA_AF=0.341395;dbNSFP_LRT_pred=D;dbNSFP_29way_pi=0.0:0.0:0.0:1.0;dbNSFP_LRT_Omega=0.041576;dbNSFP_1000Gp1_AMR_AF=0.27624309392265195;dbNSFP_GERP++_NR=5.77;dbNSFP_Interpro_domain=Acyl-CoA_dehydrogenase/oxidase_C-terminal_(2)|Acyl-CoA_oxidase/dehydrogenase|_type_1_(1)|;dbNSFP_MutationAssessor_pred=L;dbNSFP_LRT_score=0.000000;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=1.0;dbNSFP_phyloP=2.213000;dbNSFP_genename=ACADL;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=0.74;dbNSFP_Uniprot_acc=P28330;dbNSFP_codonpos=1;dbNSFP_Polyphen2_HDIV_score=0.978;dbNSFP_UniSNP_ids=rs2286963|rs17769161|rs56601090|rs59503505|rs2286963;dbNSFP_SIFT_pred=T;dbNSFP_aapos=333;dbNSFP_1000Gp1_AFR_AF=0.11178861788617886;dbNSFP_1000Gp1_AFR_AC=55;dbNSFP_refcodon=AAA;dbNSFP_Uniprot_aapos=333;dbNSFP_1000Gp1_AC=500;dbNSFP_1000Gp1_AF=0.22893772893772893;dbNSFP_SIFT_score=0.260000;dbNSFP_Uniprot_id=ACADL_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000233710;dbNSFP_ESP6500_AA_AF=0.150023;dbNSFP_Polyphen2_HVAR_score=0.841;dbNSFP_Ancestral_allele=T;dbNSFP_Polyphen2_HDIV_pred=D;dbNSFP_1000Gp1_EUR_AF=0.316622691292876;dbNSFP_Polyphen2_HVAR_pred=P;dbNSFP_MutationAssessor_score_converted=0.6362847222222222;dbNSFP_1000Gp1_EUR_AC=240;GWASCAT=Metabolite_levels	GT:AD:DP:GQ:PL	0/1:123,132:255:99:2570,0,2384
chr2	211068107	.	C	A	18.07	LowQual	AC=1;AF=0.500;AN=2;BaseQRankSum=-2.307;DP=234;Dels=0.00;FS=0.000;HaplotypeScore=0.0000;MLEAC=1;MLEAF=0.500;MQ=43.78;MQ0=0;MQRankSum=-7.047;QD=0.08;ReadPosRankSum=5.478;SB=-6.007e+00;set=FilteredInAll;EFF=INTRON(MODIFIER|||||ENSG00000231294|antisense|NON_CODING|ENST00000412065|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGg/aTg|p.Arg311Met/c.932G>T|430|ENSG00000115361|protein_coding|CODING|ENST00000233710|8|1);dbNSFP_FATHMM_score_converted=0.5420246544639522;dbNSFP_GERP++_RS=5.43;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=ENSG00000115361;dbNSFP_FATHMM_score=-3.87;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=D;dbNSFP_29way_logOdds=19.2437;dbNSFP_FATHMM_pred=D;dbNSFP_MutationTaster_score=1;dbNSFP_fold-degenerate=0;dbNSFP_MutationAssessor_score=1.455;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=8.14E-4;dbNSFP_LRT_pred=D;dbNSFP_29way_pi=0.0:1.0:0.0:0.0;dbNSFP_LRT_Omega=0.000000;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=5.43;dbNSFP_Interpro_domain=Acyl-CoA_dehydrogenase/oxidase_C-terminal_(2)|Acyl-CoA_oxidase/dehydrogenase|_type_1_(1)|;dbNSFP_MutationAssessor_pred=L;dbNSFP_LRT_score=0.000000;dbNSFP_cds_strand=-;dbNSFP_LRT_score_converted=1.0;dbNSFP_phyloP=2.541000;dbNSFP_genename=ACADL;dbNSFP_MutationTaster_score_converted=1.0;dbNSFP_SIFT_score_converted=0.9299999999999999;dbNSFP_Uniprot_acc=P28330;dbNSFP_codonpos=2;dbNSFP_Polyphen2_HDIV_score=1.0;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=T;dbNSFP_aapos=311;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=AGG;dbNSFP_Uniprot_aapos=311;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=0.070000;dbNSFP_Uniprot_id=ACADL_HUMAN;dbNSFP_Ensembl_transcriptid=ENST00000233710;dbNSFP_ESP6500_AA_AF=0.0;dbNSFP_Polyphen2_HVAR_score=0.994;dbNSFP_Ancestral_allele=C;dbNSFP_Polyphen2_HDIV_pred=D;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=D;dbNSFP_MutationAssessor_score_converted=0.607638888888889;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:216,18:234:48:48,0,4506
chr2	211421452	rs3835047	A	ATCT	12345.0	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-1.034;DB;DP=475;FS=2.354;HaplotypeScore=76.2345;MLEAC=1;MLEAF=0.500;MQ=43.98;MQ0=0;MQRankSum=0.162;QD=25.99;ReadPosRankSum=-5.573;SB=-5.798e+03;set=variant30;EFF=CODON_INSERTION(MODERATE||atc/aTCTtc|p.Ile5X/c.14*>+TCT|1506|ENSG00000021826|protein_coding|CODING|ENST00000430249|2|1),CODON_INSERTION(MODERATE||atc/aTCTtc|p.Ile5X/c.14*>+TCT|156|ENSG00000021826|protein_coding|CODING|ENST00000523702|2|1|WARNING_TRANSCRIPT_INCOMPLETE),UTR_5_PRIME(MODIFIER||||120|ENSG00000021826|protein_coding|CODING|ENST00000417946|3|1),UTR_5_PRIME(MODIFIER||||120|ENSG00000021826|protein_coding|CODING|ENST00000518043|3|1),UTR_5_PRIME(MODIFIER||||1500|ENSG00000021826|protein_coding|CODING|ENST00000233072|1|1);dbNSFP_FATHMM_score_converted=.;dbNSFP_GERP++_RS=.;dbNSFP_1000Gp1_ASN_AF=.;dbNSFP_Ensembl_geneid=.;dbNSFP_FATHMM_score=.;dbNSFP_1000Gp1_ASN_AC=.;dbNSFP_MutationTaster_pred=.;dbNSFP_29way_logOdds=.;dbNSFP_FATHMM_pred=.;dbNSFP_MutationTaster_score=.;dbNSFP_fold-degenerate=.;dbNSFP_MutationAssessor_score=.;dbNSFP_1000Gp1_AMR_AC=.;dbNSFP_ESP6500_EA_AF=.;dbNSFP_LRT_pred=.;dbNSFP_29way_pi=.;dbNSFP_LRT_Omega=.;dbNSFP_1000Gp1_AMR_AF=.;dbNSFP_GERP++_NR=.;dbNSFP_Interpro_domain=.;dbNSFP_MutationAssessor_pred=.;dbNSFP_LRT_score=.;dbNSFP_cds_strand=.;dbNSFP_LRT_score_converted=.;dbNSFP_phyloP=.;dbNSFP_genename=.;dbNSFP_MutationTaster_score_converted=.;dbNSFP_SIFT_score_converted=.;dbNSFP_Uniprot_acc=.;dbNSFP_codonpos=.;dbNSFP_Polyphen2_HDIV_score=.;dbNSFP_UniSNP_ids=.;dbNSFP_SIFT_pred=.;dbNSFP_aapos=.;dbNSFP_1000Gp1_AFR_AF=.;dbNSFP_1000Gp1_AFR_AC=.;dbNSFP_refcodon=.;dbNSFP_Uniprot_aapos=.;dbNSFP_1000Gp1_AC=.;dbNSFP_1000Gp1_AF=.;dbNSFP_SIFT_score=.;dbNSFP_Uniprot_id=.;dbNSFP_Ensembl_transcriptid=.;dbNSFP_ESP6500_AA_AF=.;dbNSFP_Polyphen2_HVAR_score=.;dbNSFP_Ancestral_allele=.;dbNSFP_Polyphen2_HDIV_pred=.;dbNSFP_1000Gp1_EUR_AF=.;dbNSFP_Polyphen2_HVAR_pred=.;dbNSFP_MutationAssessor_score_converted=.;dbNSFP_1000Gp1_EUR_AC=.	GT:AD:DP:GQ:PL	0/1:248,227:475:99:12345,0,13619
chr2	211456637	rs1047883	A	G	5729.01	PASS	AC=1;AF=0.500;AN=2;BaseQRankSum=-0.636;DB;DP=568;Dels=0.00;FS=4.488;HaplotypeScore=9.2041;MLEAC=1;MLEAF=0.500;MQ=44.00;MQ0=0;MQRankSum=-0.342;QD=10.09;ReadPosRankSum=-4.727;SB=-3.653e+03;set=variant29;EFF=NEXT_PROT[domain:Glutamine_amidotransferase_type-1](LOW||||1506|ENSG00000021826|protein_coding|CODING|ENST00000430249|10|1),NEXT_PROT[domain:Glutamine_amidotransferase_type-1](LOW||||1506|ENSG00000021826|protein_coding|CODING|ENST00000430249|11|1),NEXT_PROT[domain:Glutamine_amidotransferase_type-1](LOW||||1506|ENSG00000021826|protein_coding|CODING|ENST00000430249|12|1),NEXT_PROT[domain:Glutamine_am