{"_id":"chr10:g.96058239C>A","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"A","anc":"C","annotype":"CodingTranscript","bstatistic":401,"chmm":{"bivflnk":0.0,"enh":0.0,"enhbiv":0.008,"het":0.0,"quies":0.346,"reprpc":0.071,"reprpcwk":0.22,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.118,"txflnk":0.0,"txwk":0.228,"znfrpts":0.0},"chrom":10,"consdetail":"synonymous","consequence":"SYNONYMOUS","consscore":5,"cpg":0.09,"dna":{"helt":0.72,"mgw":-0.42,"prot":-4.35,"roll":-1.6},"encode":{"exp":27.19,"h3k27ac":3.0,"h3k4me1":6.6,"h3k4me3":5.0,"nucleo":1.0},"exon":"23/32","fitcons":0.497099,"gc":0.5,"gene":{"ccds_id":"CCDS41552.1","cds":{"cdna_pos":5506,"cds_pos":5271,"rel_cdna_pos":0.46,"rel_cds_pos":0.76},"feature_id":"ENST00000371380","gene_id":"ENSG00000138193","genename":"PLCE1","prot":{"domain":"ndomain","protpos":1757,"rel_prot_pos":0.76}},"gerp":{"n":5.6,"rs":1061.5,"rs_pval":8.23161e-171,"s":5.6},"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":27128,"min_dist_tss":209387,"mutindex":-28,"naa":"I","oaa":"I","phast_cons":{"mammalian":1.0,"primate":0.998,"vertebrate":1.0},"phred":17.65,"phylop":{"mammalian":2.647,"primate":0.651,"vertebrate":3.123},"pos":96058239,"rawscore":2.222167,"ref":"C","segway":"R5","type":"SNV"},"chrom":"10","hg19":{"end":96058239,"start":96058239},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"7991","position":"5905"},"cds":{"length":"6909","position":"5271"},"effect":"synonymous_variant","feature_id":"NM_016341.3","feature_type":"transcript","gene_id":"PLCE1","genename":"PLCE1","hgvs_c":"c.5271C>A","hgvs_p":"p.Ile1757Ile","protein":{"length":"2302","position":"1757"},"putative_impact":"LOW","rank":"24","total":"33","transcript_biotype":"protein_coding"},{"cdna":{"length":"7943","position":"5857"},"cds":{"length":"6861","position":"5223"},"effect":"synonymous_variant","feature_id":"NM_001288989.1","feature_type":"transcript","gene_id":"PLCE1","genename":"PLCE1","hgvs_c":"c.5223C>A","hgvs_p":"p.Ile1741Ile","protein":{"length":"2286","position":"1741"},"putative_impact":"LOW","rank":"24","total":"33","transcript_biotype":"protein_coding"},{"cdna":{"length":"6502","position":"4416"},"cds":{"length":"5985","position":"4347"},"effect":"synonymous_variant","feature_id":"NM_001165979.2","feature_type":"transcript","gene_id":"PLCE1","genename":"PLCE1","hgvs_c":"c.4347C>A","hgvs_p":"p.Ile1449Ile","protein":{"length":"1994","position":"1449"},"putative_impact":"LOW","rank":"23","total":"32","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"A","position":"96058239","ref":"C"}}