{"_id":"chr16:g.14041898G>C","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"C","anc":"G","annotype":"CodingTranscript","bstatistic":730,"chmm":{"bivflnk":0.0,"enh":0.0,"enhbiv":0.0,"het":0.0,"quies":0.016,"reprpc":0.0,"reprpcwk":0.0,"tssa":0.0,"tssaflnk":0.008,"tssbiv":0.0,"tx":0.795,"txflnk":0.0,"txwk":0.181,"znfrpts":0.0},"chrom":16,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.08,"dna":{"helt":-1.39,"mgw":0.57,"prot":-1.39,"roll":4.84},"encode":{"exp":18.63,"h3k27ac":5.0,"h3k4me1":5.0,"h3k4me3":5.56,"nucleo":2.1},"exon":"11/11","fitcons":0.701516,"gc":0.54,"gene":{"ccds_id":"CCDS32390.1","cds":{"cdna_pos":2454,"cds_pos":2445,"rel_cdna_pos":0.36,"rel_cds_pos":0.89},"feature_id":"ENST00000311895","gene_id":"ENSG00000175595","genename":"ERCC4","prot":{"domain":"ndomain","protpos":815,"rel_prot_pos":0.89}},"gerp":{"n":6.16,"rs":1477.5,"rs_pval":7.14124e-225,"s":3.2},"grantham":0,"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":37,"min_dist_tss":10277,"mutindex":23,"naa":"D","oaa":"E","phast_cons":{"mammalian":1.0,"primate":0.995,"vertebrate":1.0},"phred":18.49,"phylop":{"mammalian":0.944,"primate":0.645,"vertebrate":0.921},"polyphen":{"cat":"benign","val":0.014},"pos":14041898,"rawscore":2.348806,"ref":"G","segway":"TF2","sift":{"cat":"tolerated","val":0.15},"type":"SNV"},"chrom":"16","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"D","codon_degeneracy":2,"codonpos":3,"pos":815,"ref":"E","refcodon":"GAG"},"alphamissense":{"pred":"B","rankscore":0.34205,"score":0.1546},"alt":"C","altai_neandertal":["G","G"],"ancestral_allele":"G","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.20254,"score":-0.203842},"no_af":{"pred":"T","rankscore":0.1923,"score":-0.530582}},"bstatistic":{"converted_rankscore":0.09725,"score":957.0},"cds_strand":"+","chagyrskaya_neandertal":["G","G"],"chrom":"16","clinpred":{"pred":"T","rankscore":0.30844,"score":0.451291769742966},"dann":{"rankscore":0.60091,"score":0.9933929090005162},"denisova":["G","G"],"deogen2":{"pred":"T","rankscore":0.47363,"score":0.139554},"eigen":{"phred_coding":1.862736,"raw_coding":-0.204906525198493,"raw_coding_rankscore":0.32933},"eigen-pc":{"phred_coding":2.215555,"raw_coding":-0.0437035257276729,"raw_coding_rankscore":0.37763},"ensembl":{"geneid":"ENSG00000175595","proteinid":"ENSP00000310520","transcriptid":"ENST00000311895"},"esm1b":{"pred":"T","rankscore":0.51697,"score":-6.685},"eve":{"class10_pred":"U","class20_pred":"U","class25_pred":"U","class30_pred":"U","class40_pred":"U","class50_pred":"U","class60_pred":"U","class70_pred":"U","class75_pred":"B","class80_pred":"B","class90_pred":"B","rankscore":0.43484,"score":0.3369411584596465},"fathmm":{"converted_rankscore":0.30133,"pred":"T","score":1.54},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.56667,"coding_score":0.92837},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.47188,"coding_score":0.39475},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.06534,"score":0.446627},"h1-hesc":{"confidence_value":0,"rankscore":0.50148,"score":0.65145},"huvec":{"confidence_value":0,"rankscore":0.53088,"score":0.635551},"integrated":{"confidence_value":0,"rankscore":0.46895,"score":0.6512}},"gencode_basic":"Y","genename":"ERCC4","genocanyon":{"rankscore":0.27246,"score":0.936236957343921},"gerp":{"91_mammals":{"rankscore":0.41245,"score":2.14}},"gerp++":{"nr":6.16,"rs":3.2,"rs_rankscore":0.35826},"gmvp":{"rankscore":0.50269,"score":0.5034731237468186},"hg18":{"end":13949399,"start":13949399},"hg19":{"end":14041898,"start":14041898},"hg38":{"end":13948041,"start":13948041},"hgvsc":"c.2445G>C","hgvsp":["p.E815D","p.Glu815Asp"],"list-s2":{"pred":"D","rankscore":0.64041,"score":0.89721},"lrt":{"converted_rankscore":0.8433,"omega":0.094649,"pred":"D","score":1e-6},"m-cap":{"pred":"T","rankscore":0.24855,"score":0.009495},"metalr":{"pred":"T","rankscore":0.21767,"score":0.0512},"metarnn":{"pred":"T","rankscore":0.23325,"score":0.12291688},"metasvm":{"pred":"T","rankscore":0.04914,"score":-1.0939},"mpc":{"rankscore":0.08211,"score":0.073190021523},"mutationassessor":{"pred":"L","rankscore":0.32453,"score":1.295},"mutationtaster":{"aae":"E815D","converted_rankscore":0.58761,"model":"simple_aae","pred":"D","score":0.999994},"mutformer":{"rankscore":0.43069,"score":0.01146133},"mutpred":{"aa_change":"E815D","accession":"Q92889","pred":{"mechanism":"Loss of helix","p_val":0.028},"rankscore":0.26041,"score":0.296},"mvp":{"rankscore":0.54656,"score":0.550005317886},"phactboost":{"rankscore":0.23941,"score":0.0100415136606696},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.85391,"score":0.998},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.34984,"score":1.472},"17way_primate":{"rankscore":0.7674,"score":0.676},"470way_mammalian":{"rankscore":0.2659,"score":1.449}},"polyphen2":{"hdiv":{"pred":"B","rankscore":0.27995,"score":0.15},"hvar":{"pred":"B","rankscore":0.23607,"score":0.039}},"primateai":{"pred":"T","rankscore":0.51431,"score":0.589552760124},"provean":{"converted_rankscore":0.42384,"pred":"N","score":-1.8},"ref":"G","reliability_index":10,"revel":{"rankscore":0.14996,"score":0.053},"sift":{"converted_rankscore":0.28026,"pred":"T","score":0.119},"sift4g":{"converted_rankscore":0.20745,"pred":"T","score":0.294},"siphy_29way":{"logodds_rankscore":0.44263,"logodds_score":10.5487,"pi":{"a":0.197,"c":0.0,"g":0.803,"t":0.0}},"tsl":1,"uniprot":{"acc":"Q92889","entry":"XPF_HUMAN"},"varity":{"er":{"rankscore":0.61343,"score":0.3587179},"er_loo":{"rankscore":0.61343,"score":0.3587179},"r":{"rankscore":0.76477,"score":0.67081815},"r_loo":{"rankscore":0.76478,"score":0.67081815}},"vep_canonical":"YES","vest4":{"rankscore":0.34981,"score":0.31},"vindijia_neandertal":["G","G"]},"hg19":{"end":14041898,"start":14041898},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":{"cdna":{"length":"6761","position":"2454"},"cds":{"length":"2751","position":"2445"},"effect":"missense_variant","feature_id":"NM_005236.2","feature_type":"transcript","gene_id":"ERCC4","genename":"ERCC4","hgvs_c":"c.2445G>C","hgvs_p":"p.Glu815Asp","protein":{"length":"916","position":"815"},"putative_impact":"MODERATE","rank":"11","total":"11","transcript_biotype":"protein_coding"}},"vcf":{"alt":"C","position":"14041898","ref":"G"}}