{"_id":"chr5:g.96786252G>A","_version":1,"chrom":"5","dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"G","freq":{"dbgap_popfreq":1.0}},{"allele":"A","freq":{"dbgap_popfreq":0.0}},{"allele":"C","freq":{"dbgap_popfreq":0.0}},{"allele":"T","freq":{"dbgap_popfreq":0.0}}],"alt":"A","chrom":"5","dbsnp_build":156,"gene":[{"geneid":51752,"is_pseudo":false,"name":"endoplasmic reticulum aminopeptidase 1","rnas":[{"hgvs":"NM_001040458.3:c.1759+218=","protein_product":{"refseq":"NP_001035548.1"},"refseq":"NM_001040458.3","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001198541.3:c.1759+218=","protein_product":{"refseq":"NP_001185470.1"},"refseq":"NM_001198541.3","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_001349244.2:c.1759+218=","protein_product":{"refseq":"NP_001336173.1"},"refseq":"NM_001349244.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"NM_016442.5:c.1759+218=","protein_product":{"refseq":"NP_057526.3"},"refseq":"NM_016442.5","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_005272015.6:c.1759+218=","protein_product":{"refseq":"XP_005272072.1"},"refseq":"XM_005272015.6","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_005272016.5:c.1759+218=","protein_product":{"refseq":"XP_005272073.1"},"refseq":"XM_005272016.5","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_011543484.3:c.1759+218=","protein_product":{"refseq":"XP_011541786.1"},"refseq":"XM_011543484.3","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_011543485.3:c.1759+218=","protein_product":{"refseq":"XP_011541787.1"},"refseq":"XM_011543485.3","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_011543486.4:c.1759+218=","protein_product":{"refseq":"XP_011541788.1"},"refseq":"XM_011543486.4","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_017009581.2:c.1759+218=","protein_product":{"refseq":"XP_016865070.1"},"refseq":"XM_017009581.2","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_017009583.3:c.664+218=","protein_product":{"refseq":"XP_016865072.1"},"refseq":"XM_017009583.3","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047417305.1:c.1759+218=","protein_product":{"refseq":"XP_047273261.1"},"refseq":"XM_047417305.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047417306.1:c.1759+218=","protein_product":{"refseq":"XP_047273262.1"},"refseq":"XM_047417306.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047417307.1:c.1759+218=","protein_product":{"refseq":"XP_047273263.1"},"refseq":"XM_047417307.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047417308.1:c.1759+218=","protein_product":{"refseq":"XP_047273264.1"},"refseq":"XM_047417308.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047417309.1:c.1759+218=","protein_product":{"refseq":"XP_047273265.1"},"refseq":"XM_047417309.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047417310.1:c.1759+218=","protein_product":{"refseq":"XP_047273266.1"},"refseq":"XM_047417310.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047417311.1:c.1604+218=","protein_product":{"refseq":"XP_047273267.1"},"refseq":"XM_047417311.1","so":[{"accession":"SO:0001627","name":"intron_variant"}]},{"hgvs":"XM_047417312.1:c.1604+218=","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":"G","inserted_sequence":"G","position":1856,"seq_id":"XR_007058877.1"},"hgvs":"XR_007058877.1:n.1857=","refseq":"XR_007058877.1","so":[{"accession":"SO:0001619","name":"non_coding_transcript_variant"}]}],"strand":"+","symbol":"LOC124901031"}],"hg38":{"end":96786252,"start":96786252},"ref":"G","rsid":"rs1434505787","vartype":"snv"},"hg38":{"end":96786252,"start":96786252},"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+218C>T","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+218C>T","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+218C>T","putative_impact":"MODIFIER","rank":"12","total":"18","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"A","position":"96786252","ref":"G"}}