{"_id":"chr5:g.96786383A>G","_version":1,"chrom":"5","clingen":{"caid":"CA122965097"},"dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"A","freq":{"dbgap_popfreq":1.0,"gnomad":1.0,"topmed":1.0}},{"allele":"G","freq":{"dbgap_popfreq":0.0,"gnomad":0.0,"topmed":0.0}}],"alt":"G","chrom":"5","dbsnp_build":156,"gene":[{"geneid":51752,"is_pseudo":false,"name":"endoplasmic reticulum aminopeptidase 1","rnas":[{"hgvs":"NM_001040458.3:c.1759+87=","protein_product":{"refseq":"NP_001035548.1"},"refseq":"NM_001040458.3","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001198541.3:c.1759+87=","protein_product":{"refseq":"NP_001185470.1"},"refseq":"NM_001198541.3","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001349244.2:c.1759+87=","protein_product":{"refseq":"NP_001336173.1"},"refseq":"NM_001349244.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_016442.5:c.1759+87=","protein_product":{"refseq":"NP_057526.3"},"refseq":"NM_016442.5","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_005272015.6:c.1759+87=","protein_product":{"refseq":"XP_005272072.1"},"refseq":"XM_005272015.6","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_005272016.5:c.1759+87=","protein_product":{"refseq":"XP_005272073.1"},"refseq":"XM_005272016.5","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_011543484.3:c.1759+87=","protein_product":{"refseq":"XP_011541786.1"},"refseq":"XM_011543484.3","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_011543485.3:c.1759+87=","protein_product":{"refseq":"XP_011541787.1"},"refseq":"XM_011543485.3","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_011543486.4:c.1759+87=","protein_product":{"refseq":"XP_011541788.1"},"refseq":"XM_011543486.4","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_017009581.2:c.1759+87=","protein_product":{"refseq":"XP_016865070.1"},"refseq":"XM_017009581.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_017009583.3:c.664+87=","protein_product":{"refseq":"XP_016865072.1"},"refseq":"XM_017009583.3","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047417305.1:c.1759+87=","protein_product":{"refseq":"XP_047273261.1"},"refseq":"XM_047417305.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047417306.1:c.1759+87=","protein_product":{"refseq":"XP_047273262.1"},"refseq":"XM_047417306.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047417307.1:c.1759+87=","protein_product":{"refseq":"XP_047273263.1"},"refseq":"XM_047417307.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047417308.1:c.1759+87=","protein_product":{"refseq":"XP_047273264.1"},"refseq":"XM_047417308.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047417309.1:c.1759+87=","protein_product":{"refseq":"XP_047273265.1"},"refseq":"XM_047417309.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047417310.1:c.1759+87=","protein_product":{"refseq":"XP_047273266.1"},"refseq":"XM_047417310.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047417311.1:c.1604+87=","protein_product":{"refseq":"XP_047273267.1"},"refseq":"XM_047417311.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047417312.1:c.1604+87=","protein_product":{"refseq":"XP_047273268.1"},"refseq":"XM_047417312.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]}],"strand":"-","symbol":"ERAP1"},{"geneid":124901031,"is_pseudo":false,"name":"uncharacterized LOC124901031","rnas":[{"codon_aligned_transcript_change":{"deleted_sequence":"A","inserted_sequence":"A","position":1987,"seq_id":"XR_007058877.1"},"hgvs":"XR_007058877.1:n.1988=","refseq":"XR_007058877.1","so":[{"accession":"SO:0001619","name":"non_coding_transcript_variant"}]}],"strand":"+","symbol":"LOC124901031"}],"hg38":{"end":96786383,"start":96786383},"ref":"A","rsid":"rs971553371","vartype":"snv"},"gnomad_genome":{"_license":"http://bit.ly/2I1cl1I","ac":{"ac":1,"ac_afr":0,"ac_afr_xx":0,"ac_afr_xy":0,"ac_ami":0,"ac_ami_xx":0,"ac_ami_xy":0,"ac_amr":0,"ac_amr_xx":0,"ac_amr_xy":0,"ac_asj":0,"ac_asj_xx":0,"ac_asj_xy":0,"ac_eas":0,"ac_eas_xx":0,"ac_eas_xy":0,"ac_fin":0,"ac_fin_xx":0,"ac_fin_xy":0,"ac_mid":0,"ac_mid_xx":0,"ac_mid_xy":0,"ac_nfe":1,"ac_nfe_xx":1,"ac_nfe_xy":0,"ac_oth":0,"ac_oth_xx":0,"ac_oth_xy":0,"ac_sas":0,"ac_sas_xx":0,"ac_sas_xy":0,"ac_xx":1,"ac_xy":0},"af":{"af":6.56763e-6,"af_afr":0.0,"af_afr_xx":0.0,"af_afr_xy":0.0,"af_ami":0.0,"af_ami_xx":0.0,"af_ami_xy":0.0,"af_amr":0.0,"af_amr_xx":0.0,"af_amr_xy":0.0,"af_asj":0.0,"af_asj_xx":0.0,"af_asj_xy":0.0,"af_eas":0.0,"af_eas_xx":0.0,"af_eas_xy":0.0,"af_fin":0.0,"af_fin_xx":0.0,"af_fin_xy":0.0,"af_mid":0.0,"af_mid_xx":0.0,"af_mid_xy":0.0,"af_nfe":0.0000146968,"af_nfe_xx":0.0000254039,"af_nfe_xy":0.0,"af_oth":0.0,"af_oth_xx":0.0,"af_oth_xy":0.0,"af_sas":0.0,"af_sas_xx":0.0,"af_sas_xy":0.0,"af_xx":0.0000128426,"af_xy":0.0},"alleles":"G","alt":"G","an":{"an":152262,"an_afr":41472,"an_afr_xx":22158,"an_afr_xy":19314,"an_ami":912,"an_ami_xx":470,"an_ami_xy":442,"an_amr":15290,"an_amr_xx":6788,"an_amr_xy":8502,"an_asj":3472,"an_asj_xx":1868,"an_asj_xy":1604,"an_eas":5206,"an_eas_xx":2280,"an_eas_xy":2926,"an_fin":10626,"an_fin_xx":2574,"an_fin_xy":8052,"an_mid":316,"an_mid_xx":164,"an_mid_xy":152,"an_nfe":68042,"an_nfe_xx":39364,"an_nfe_xy":28678,"an_oth":2094,"an_oth_xx":1034,"an_oth_xy":1060,"an_sas":4832,"an_sas_xx":1166,"an_sas_xy":3666,"an_xx":77866,"an_xy":74396},"as_fs":0.0,"as_mq":{"as_mq":60.0,"as_mqranksum":0.532},"as_pab_max":0.229481,"as_qd":17.2941,"as_readposranksum":-0.319,"as_sor":0.670752,"as_vqslod":4.6536,"chrom":"5","hom":{"hom":0,"hom_afr":0,"hom_afr_xx":0,"hom_afr_xy":0,"hom_ami":0,"hom_ami_xx":0,"hom_ami_xy":0,"hom_amr":0,"hom_amr_xx":0,"hom_amr_xy":0,"hom_asj":0,"hom_asj_xx":0,"hom_asj_xy":0,"hom_eas":0,"hom_eas_xx":0,"hom_eas_xy":0,"hom_fin":0,"hom_fin_xx":0,"hom_fin_xy":0,"hom_mid":0,"hom_mid_xx":0,"hom_mid_xy":0,"hom_nfe":0,"hom_nfe_xx":0,"hom_nfe_xy":0,"hom_oth":0,"hom_oth_xx":0,"hom_oth_xy":0,"hom_sas":0,"hom_sas_xx":0,"hom_sas_xy":0,"hom_xx":0,"hom_xy":0},"inbreedingcoeff":-6.67572e-6,"pos":96786383,"ref":"A","rsid":"rs971553371","type":"snp"},"hg38":{"end":96786383,"start":96786383},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"effect":"intron_variant","feature_id":"NM_016442.3","feature_type":"transcript","gene_id":"ERAP1","genename":"ERAP1","hgvs_c":"c.1759+87T>C","putative_impact":"MODIFIER","rank":"12","total":"19","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001040458.1","feature_type":"transcript","gene_id":"ERAP1","genename":"ERAP1","hgvs_c":"c.1759+87T>C","putative_impact":"MODIFIER","rank":"12","total":"18","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001198541.1","feature_type":"transcript","gene_id":"ERAP1","genename":"ERAP1","hgvs_c":"c.1759+87T>C","putative_impact":"MODIFIER","rank":"12","total":"18","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"G","position":"96786383","ref":"A"}}