{"_id":"chr2:g.179641819G>A","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"A","anc":"G","annotype":"NonCodingTranscript","bstatistic":5,"chmm":{"bivflnk":0.0,"enh":0.008,"enhbiv":0.0,"het":0.0,"quies":0.559,"reprpc":0.0,"reprpcwk":0.087,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.134,"txflnk":0.0,"txwk":0.213,"znfrpts":0.0},"chrom":2,"consdetail":"non_coding_exon,nc","consequence":"NONCODING_CHANGE","consscore":5,"cpg":0.0,"dna":{"helt":-2.2,"mgw":0.35,"prot":1.46,"roll":-0.15},"encode":{"exp":13.33,"h3k27ac":2.0,"h3k4me1":1.0,"h3k4me3":2.2,"nucleo":1.6},"exon":"1/2","fitcons":0.053666,"gc":0.35,"gene":{"cds":{"cdna_pos":167,"rel_cdna_pos":0.09},"feature_id":"ENST00000582038","gene_id":"ENSG00000266413","genename":"RP11-88L24.4"},"gerp":{"n":5.8,"rs":6452.5,"rs_pval":0,"s":-3.61},"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":2872,"min_dist_tss":166,"mutindex":-26,"phast_cons":{"mammalian":0.001,"primate":0.005,"vertebrate":0.0},"phred":0.003,"phylop":{"mammalian":-0.541,"primate":-0.146,"vertebrate":-0.762},"pos":179641819,"rawscore":-1.404662,"ref":"G","segway":"F0","type":"SNV"},"chrom":"2","hg19":{"end":179641819,"start":179641819},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"effect":"intron_variant","feature_id":"NM_001267550.2","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.4815-43C>T","putative_impact":"MODIFIER","rank":"27","total":"362","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001256850.1","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.4815-43C>T","putative_impact":"MODIFIER","rank":"27","total":"312","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_133437.4","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.4677-43C>T","putative_impact":"MODIFIER","rank":"26","total":"191","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_003319.4","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.4677-43C>T","putative_impact":"MODIFIER","rank":"26","total":"190","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_133378.4","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.4815-43C>T","putative_impact":"MODIFIER","rank":"27","total":"311","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_133432.3","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.4677-43C>T","putative_impact":"MODIFIER","rank":"26","total":"191","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_133379.4","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.4815-43C>T","putative_impact":"MODIFIER","rank":"27","total":"45","transcript_biotype":"protein_coding"},{"effect":"non_coding_transcript_exon_variant","feature_id":"NR_120594.1","feature_type":"transcript","gene_id":"LOC101927055","genename":"LOC101927055","hgvs_c":"n.167G>A","putative_impact":"MODIFIER","rank":"1","total":"2","transcript_biotype":"pseudogene"}]},"vcf":{"alt":"A","position":"179641819","ref":"G"}}