{"_id":"chr16:g.13947856C>G","_version":1,"chrom":"16","clingen":{"caid":"CA394822726"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"G","codon_degeneracy":0,"codonpos":1,"pos":754,"ref":"R","refcodon":"CGT"},"alphamissense":{"pred":"B","rankscore":0.53293,"score":0.3039},"alt":"G","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.55886,"score":0.0312242},"no_af":{"pred":"T","rankscore":0.55316,"score":-0.192925}},"bstatistic":{"converted_rankscore":0.09725,"score":957.0},"cadd":{"phred":24.6,"raw_rankscore":0.63986,"raw_score":4.227266},"cds_strand":"+","chagyrskaya_neandertal":["C","C"],"chrom":"16","clinpred":{"pred":"D","rankscore":0.82329,"score":0.991952240467072},"dann":{"rankscore":0.92403,"score":0.9984391123002115},"denisova":["C","C"],"deogen2":{"pred":"T","rankscore":0.79813,"score":0.461304},"eigen":{"phred_coding":4.897353,"raw_coding":0.481798439798646,"raw_coding_rankscore":0.66028},"eigen-pc":{"phred_coding":4.581805,"raw_coding":0.430499779680119,"raw_coding_rankscore":0.63474},"ensembl":{"geneid":"ENSG00000175595","proteinid":"ENSP00000310520","transcriptid":"ENST00000311895"},"esm1b":{"pred":"D","rankscore":0.83186,"score":-11.666},"eve":{"class10_pred":"P","class20_pred":"P","class25_pred":"P","class30_pred":"P","class40_pred":"P","class50_pred":"P","class60_pred":"P","class70_pred":"P","class75_pred":"P","class80_pred":"P","class90_pred":"P","rankscore":0.95949,"score":0.911641788511996},"fathmm":{"converted_rankscore":0.25018,"pred":"T","score":1.82},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.57662,"coding_score":0.93229},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.57118,"coding_score":0.564365},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.12157,"score":0.546412},"h1-hesc":{"confidence_value":0,"rankscore":0.6058,"score":0.670488},"huvec":{"confidence_value":0,"rankscore":0.53088,"score":0.635551},"integrated":{"confidence_value":0,"rankscore":0.31514,"score":0.562547}},"gencode_basic":"Y","genename":"ERCC4","genocanyon":{"rankscore":0.36888,"score":0.998397066138627},"gerp":{"91_mammals":{"rankscore":0.75636,"score":3.97}},"gerp++":{"nr":5.79,"rs":4.82,"rs_rankscore":0.61641},"gmvp":{"rankscore":0.65501,"score":0.6556578859704915},"hg18":{"end":13949214,"start":13949214},"hg19":{"end":14041713,"start":14041713},"hg38":{"end":13947856,"start":13947856},"hgvsc":"c.2260C>G","hgvsp":["p.R754G","p.Arg754Gly"],"interpro":{"domain":"ERCC4 domain|ERCC4 domain"},"list-s2":{"pred":"D","rankscore":0.75597,"score":0.935006},"lrt":{"converted_rankscore":0.62929,"omega":0.053336,"pred":"D","score":1e-6},"m-cap":{"pred":"D","rankscore":0.56599,"score":0.035831},"metalr":{"pred":"T","rankscore":0.4581,"score":0.1394},"metarnn":{"pred":"D","rankscore":0.76748,"score":0.7665443},"metasvm":{"pred":"T","rankscore":0.53333,"score":-0.8295},"mpc":{"rankscore":0.33077,"score":0.307827860643},"mutationassessor":{"pred":"M","rankscore":0.82803,"score":2.85},"mutationtaster":{"aae":"R754G","converted_rankscore":0.58761,"model":"simple_aae","pred":"D","score":0.99999},"mutformer":{"rankscore":0.69045,"score":0.1283042},"mutpred":{"aa_change":"R754G","accession":"Q92889","pred":{"mechanism":"Loss of MoRF binding","p_val":0.0615},"rankscore":0.84962,"score":0.714},"mvp":{"rankscore":0.72144,"score":0.723881056707},"phactboost":{"rankscore":0.65535,"score":0.655755303819332},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.47231,"score":0.934},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.3665,"score":1.626},"17way_primate":{"rankscore":0.4025,"score":0.599},"470way_mammalian":{"rankscore":0.46155,"score":4.934}},"polyphen2":{"hdiv":{"pred":"D","rankscore":0.56202,"score":0.966},"hvar":{"pred":"P","rankscore":0.5318,"score":0.672}},"primateai":{"pred":"T","rankscore":0.31885,"score":0.449565351009},"provean":{"converted_rankscore":0.69835,"pred":"D","score":-3.64},"ref":"C","reliability_index":10,"revel":{"rankscore":0.56959,"score":0.258},"sift":{"converted_rankscore":0.68238,"pred":"D","score":0.003},"sift4g":{"converted_rankscore":0.66756,"pred":"D","score":0.009},"siphy_29way":{"logodds_rankscore":0.56972,"logodds_score":12.802,"pi":{"a":0.3071,"c":0.6929,"g":0.0,"t":0.0}},"tsl":1,"uniprot":{"acc":"Q92889","entry":"XPF_HUMAN"},"varity":{"er":{"rankscore":0.85243,"score":0.7503392},"er_loo":{"rankscore":0.85244,"score":0.7503392},"r":{"rankscore":0.89739,"score":0.8808715},"r_loo":{"rankscore":0.8974,"score":0.8808715}},"vep_canonical":"YES","vest4":{"rankscore":0.65416,"score":0.642},"vindijia_neandertal":["C","C"]},"hg38":{"end":13947856,"start":13947856},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":{"cdna":{"length":"6761","position":"2269"},"cds":{"length":"2751","position":"2260"},"effect":"missense_variant","feature_id":"NM_005236.2","feature_type":"transcript","gene_id":"ERCC4","genename":"ERCC4","hgvs_c":"c.2260C>G","hgvs_p":"p.Arg754Gly","protein":{"length":"916","position":"754"},"putative_impact":"MODERATE","rank":"11","total":"11","transcript_biotype":"protein_coding"}},"vcf":{"alt":"G","position":"13947856","ref":"C"}}