{"_id":"chr6:g.12296269G>C","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"C","anc":"G","annotype":"CodingTranscript","bstatistic":837,"chmm":{"bivflnk":0.0,"enh":0.11,"enhbiv":0.016,"het":0.0,"quies":0.252,"reprpc":0.0,"reprpcwk":0.252,"tssa":0.0,"tssaflnk":0.063,"tssbiv":0.0,"tx":0.031,"txflnk":0.063,"txwk":0.087,"znfrpts":0.0},"chrom":6,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.08,"dna":{"helt":-1.46,"mgw":0.61,"prot":-2.23,"roll":5.88},"encode":{"exp":3294.72,"h3k27ac":75.2,"h3k4me1":36.08,"h3k4me3":54.44,"nucleo":1.9},"exon":"5/5","fitcons":0.623825,"gc":0.54,"gene":{"ccds_id":"CCDS4522.1","cds":{"cdna_pos":875,"cds_pos":608,"rel_cdna_pos":0.43,"rel_cds_pos":0.95},"feature_id":"ENST00000379375","gene_id":"ENSG00000078401","genename":"EDN1","prot":{"protpos":203,"rel_prot_pos":0.96}},"gerp":{"n":5.93,"rs":2889,"rs_pval":0,"s":3.56},"grantham":103,"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":1159,"min_dist_tss":5673,"mirsvr":{"aln":148,"e":-22.01,"score":-0.3647},"mutindex":93,"naa":"P","oaa":"R","phast_cons":{"mammalian":0.778,"primate":0.001,"vertebrate":0.893},"phred":18.41,"phylop":{"mammalian":0.514,"primate":-0.244,"vertebrate":0.692},"polyphen":{"cat":"benign","val":0.09},"pos":12296269,"rawscore":2.33748,"ref":"G","segway":"R5","sift":{"cat":"deleterious","val":0.03},"tf":{"bs":2,"bs_peaks":2,"bs_peaks_max":49.0333},"type":"SNV"},"chrom":"6","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"P","codon_degeneracy":0,"codonpos":2,"pos":203,"ref":"R","refcodon":"CGT"},"alphamissense":{"pred":"B","rankscore":0.32202,"score":0.146},"alt":"C","altai_neandertal":["G","G"],"ancestral_allele":"G","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.51749,"score":0.000683959},"no_af":{"pred":"T","rankscore":0.51112,"score":-0.236794}},"bstatistic":{"converted_rankscore":0.38045,"score":836.0},"cds_strand":"+","chagyrskaya_neandertal":["G","G"],"chrom":"6","clinpred":{"pred":"T","rankscore":0.15057,"score":0.126526333528107},"dann":{"rankscore":0.17886,"score":0.8832232539034732},"denisova":["G","G"],"deogen2":{"pred":"D","rankscore":0.82949,"score":0.515382},"eigen":{"phred_coding":0.6118752,"raw_coding":-0.830317129569579,"raw_coding_rankscore":0.12539},"eigen-pc":{"phred_coding":0.840411,"raw_coding":-0.741447646710353,"raw_coding_rankscore":0.15932},"ensembl":{"geneid":"ENSG00000078401","proteinid":"ENSP00000368683","transcriptid":"ENST00000379375"},"esm1b":{"pred":"T","rankscore":0.21839,"score":-3.869},"fathmm":{"converted_rankscore":0.85247,"pred":"D","score":-1.98},"fathmm-mkl":{"coding_group":"AEFDGBHCI","coding_pred":"N","coding_rankscore":0.19289,"coding_score":0.16223},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.39606,"coding_score":0.282806},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.59785,"score":0.653731},"h1-hesc":{"confidence_value":0,"rankscore":0.07146,"score":0.467745},"huvec":{"confidence_value":0,"rankscore":0.63696,"score":0.657601},"integrated":{"confidence_value":0,"rankscore":0.4053,"score":0.627647}},"gencode_basic":"Y","genename":"EDN1","genocanyon":{"rankscore":0.74766,"score":0.999999996990334},"gerp":{"91_mammals":{"rankscore":0.15764,"score":-0.998}},"gerp++":{"nr":5.93,"rs":3.56,"rs_rankscore":0.39892},"gmvp":{"rankscore":0.13586,"score":0.13662100072289668},"hg18":{"end":12404255,"start":12404255},"hg19":{"end":12296269,"start":12296269},"hg38":{"end":12296036,"start":12296036},"hgvsc":"c.608G>C","hgvsp":["p.Arg203Pro","p.R203P"],"list-s2":{"pred":"T","rankscore":0.0723,"score":0.337566},"lrt":{"converted_rankscore":0.20745,"omega":0.536026,"pred":"N","score":0.083601},"m-cap":{"pred":"D","rankscore":0.76159,"score":0.093918},"metalr":{"pred":"T","rankscore":0.52287,"score":0.1776},"metarnn":{"pred":"T","rankscore":0.26797,"score":0.14100209},"metasvm":{"pred":"T","rankscore":0.4918,"score":-0.8871},"mpc":{"rankscore":0.32871,"score":0.305662963327},"mutationassessor":{"pred":"N","rankscore":0.10031,"score":0.28},"mutationtaster":{"aae":"R203P","converted_rankscore":0.24771,"model":"simple_aae","pred":"N","score":0.984765},"mutformer":{"rankscore":0.94844,"score":0.9721255},"mutpred":{"aa_change":"R203P","accession":"P05305","pred":{"mechanism":"Loss of MoRF binding","p_val":0.0083},"rankscore":0.20788,"score":0.263},"mvp":{"rankscore":0.74545,"score":0.747728166857},"phactboost":{"rankscore":0.41073,"score":0.0781245673552229},"phastcons":{"100way_vertebrate":{"rankscore":0.23566,"score":0.144},"17way_primate":{"rankscore":0.02609,"score":0.001},"470way_mammalian":{"rankscore":0.31925,"score":0.993}},"phylop":{"100way_vertebrate":{"rankscore":0.33387,"score":1.33},"17way_primate":{"rankscore":0.16196,"score":-0.087},"470way_mammalian":{"rankscore":0.33663,"score":2.626}},"polyphen2":{"hdiv":{"pred":"B","rankscore":0.24253,"score":0.076},"hvar":{"pred":"B","rankscore":0.24394,"score":0.044}},"primateai":{"pred":"T","rankscore":0.03501,"score":0.247422471642},"provean":{"converted_rankscore":0.33798,"pred":"N","score":-1.36},"ref":"G","reliability_index":10,"revel":{"rankscore":0.46444,"score":0.188},"sift":{"converted_rankscore":0.51853,"pred":"D","score":0.016},"sift4g":{"converted_rankscore":0.26066,"pred":"T","score":0.218},"siphy_29way":{"logodds_rankscore":0.29688,"logodds_score":8.0421,"pi":{"a":0.758,"c":0.0,"g":0.242,"t":0.0}},"tsl":1,"uniprot":{"acc":"P05305","entry":"EDN1_HUMAN"},"varity":{"er":{"rankscore":0.45216,"score":0.20892781},"er_loo":{"rankscore":0.45215,"score":0.20892781},"r":{"rankscore":0.40756,"score":0.19133258},"r_loo":{"rankscore":0.40756,"score":0.19133258}},"vep_canonical":"YES","vest4":{"rankscore":0.23506,"score":0.211},"vindijia_neandertal":["G","G"]},"hg19":{"end":12296269,"start":12296269},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"2100","position":"942"},"cds":{"length":"639","position":"608"},"effect":"missense_variant","feature_id":"NM_001955.4","feature_type":"transcript","gene_id":"EDN1","genename":"EDN1","hgvs_c":"c.608G>C","hgvs_p":"p.Arg203Pro","protein":{"length":"212","position":"203"},"putative_impact":"MODERATE","rank":"5","total":"5","transcript_biotype":"protein_coding"},{"cdna":{"length":"2097","position":"939"},"cds":{"length":"636","position":"605"},"effect":"missense_variant","feature_id":"NM_001168319.1","feature_type":"transcript","gene_id":"EDN1","genename":"EDN1","hgvs_c":"c.605G>C","hgvs_p":"p.Arg202Pro","protein":{"length":"211","position":"202"},"putative_impact":"MODERATE","rank":"5","total":"5","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"C","position":"12296269","ref":"G"}}