{"_id":"chr12:g.103240709C>G","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"G","anc":"C","annotype":"CodingTranscript","bstatistic":831,"chmm":{"bivflnk":0.0,"enh":0.0,"enhbiv":0.0,"het":0.039,"quies":0.717,"reprpc":0.008,"reprpcwk":0.189,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.016,"txflnk":0.0,"txwk":0.024,"znfrpts":0.0},"chrom":12,"consdetail":"synonymous","consequence":"SYNONYMOUS","consscore":5,"cpg":0.01,"dna":{"helt":2.2,"mgw":0.28,"prot":-1.38,"roll":0.91},"encode":{"exp":9.25,"h3k27ac":3.0,"h3k4me1":3.88,"h3k4me3":4.0,"nucleo":1.2},"exon":"9/13","fitcons":0.65045,"gc":0.48,"gene":{"ccds_id":"CCDS9092.1","cds":{"cdna_pos":1406,"cds_pos":933,"rel_cdna_pos":0.34,"rel_cds_pos":0.69},"feature_id":"ENST00000553106","gene_id":"ENSG00000171759","genename":"PAH","prot":{"domain":"ndomain","protpos":311,"rel_prot_pos":0.69}},"gerp":{"n":5.38,"rs":193.7,"rs_pval":4.5141e-28,"s":2.42},"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":3217,"min_dist_tss":5330,"mutindex":4,"naa":"L","oaa":"L","phast_cons":{"mammalian":0.995,"primate":0.454,"vertebrate":0.999},"phred":9.885,"phylop":{"mammalian":0.201,"primate":0.645,"vertebrate":0.446},"pos":103240709,"rawscore":0.869308,"ref":"C","segway":"L1","type":"SNV"},"chrom":"12","hg19":{"end":103240709,"start":103240709},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":{"cdna":{"length":"2681","position":"1406"},"cds":{"length":"1359","position":"933"},"effect":"synonymous_variant","feature_id":"NM_000277.1","feature_type":"transcript","gene_id":"PAH","genename":"PAH","hgvs_c":"c.933G>C","hgvs_p":"p.Leu311Leu","protein":{"length":"452","position":"311"},"putative_impact":"LOW","rank":"9","total":"13","transcript_biotype":"protein_coding"}},"vcf":{"alt":"G","position":"103240709","ref":"C"}}