{"_id":"chr16:g.13948130A>T","_version":1,"chrom":"16","clingen":{"caid":"CA394824371"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"I","codon_degeneracy":0,"codonpos":2,"pos":845,"ref":"N","refcodon":"AAT"},"alphamissense":{"pred":"B","rankscore":0.39765,"score":0.1834},"alt":"T","altai_neandertal":["A","A"],"ancestral_allele":"A","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.59616,"score":0.060013},"no_af":{"pred":"T","rankscore":0.59104,"score":-0.151572}},"bstatistic":{"converted_rankscore":0.09725,"score":957.0},"cadd":{"phred":21.3,"raw_rankscore":0.41128,"raw_score":3.06192},"cds_strand":"+","chagyrskaya_neandertal":["A","A"],"chrom":"16","clinpred":{"pred":"D","rankscore":0.95037,"score":0.998746037483215},"dann":{"rankscore":0.46786,"score":0.9882101676786716},"denisova":["A","A"],"deogen2":{"pred":"D","rankscore":0.8595,"score":0.574182},"eigen":{"phred_coding":4.507682,"raw_coding":0.425855935062372,"raw_coding_rankscore":0.6285},"eigen-pc":{"phred_coding":3.471509,"raw_coding":0.256199935997777,"raw_coding_rankscore":0.53002},"ensembl":{"geneid":"ENSG00000175595","proteinid":"ENSP00000310520","transcriptid":"ENST00000311895"},"esm1b":{"pred":"D","rankscore":0.89686,"score":-13.079},"eve":{"class10_pred":"U","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":0.95301,"score":0.9018207343432828},"fathmm":{"converted_rankscore":0.17271,"pred":"T","score":2.28},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.69873,"coding_score":0.96584},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.47945,"coding_score":0.407318},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.12157,"score":0.546412},"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":0.37167,"score":0.998549991770756},"gerp":{"91_mammals":{"rankscore":0.27326,"score":0.784}},"gerp++":{"nr":6.16,"rs":3.95,"rs_rankscore":0.44952},"gmvp":{"rankscore":0.79375,"score":0.7942220209692643},"hg18":{"end":13949488,"start":13949488},"hg19":{"end":14041987,"start":14041987},"hg38":{"end":13948130,"start":13948130},"hgvsc":"c.2534A>T","hgvsp":["p.N845I","p.Asn845Ile"],"list-s2":{"pred":"D","rankscore":0.74113,"score":0.929907},"lrt":{"converted_rankscore":0.8433,"omega":0.041979,"pred":"D","score":0.0},"m-cap":{"pred":"D","rankscore":0.7243,"score":0.076018},"metalr":{"pred":"T","rankscore":0.47787,"score":0.1503},"metarnn":{"pred":"D","rankscore":0.78359,"score":0.78732675},"metasvm":{"pred":"T","rankscore":0.53978,"score":-0.8193},"mpc":{"rankscore":0.33317,"score":0.310035681446},"mutationassessor":{"pred":"H","rankscore":0.92918,"score":3.515},"mutationtaster":{"aae":"N845I","converted_rankscore":0.81001,"model":"simple_aae","pred":"D","score":1.0},"mutformer":{"rankscore":0.70022,"score":0.14233947},"mutpred":{"aa_change":"N845I","accession":"Q92889","pred":{"mechanism":"Loss of disorder","p_val":0.0383},"rankscore":0.25241,"score":0.291},"mvp":{"rankscore":0.67729,"score":0.680020250317},"phactboost":{"rankscore":0.80237,"score":0.94844615325352},"phastcons":{"100way_vertebrate":{"rankscore":0.38783,"score":0.995},"17way_primate":{"rankscore":0.50222,"score":0.953},"470way_mammalian":{"rankscore":0.19429,"score":0.006}},"phylop":{"100way_vertebrate":{"rankscore":0.52232,"score":3.386},"17way_primate":{"rankscore":0.1739,"score":-0.043},"470way_mammalian":{"rankscore":0.21791,"score":0.815}},"polyphen2":{"hdiv":{"pred":"D","rankscore":0.77913,"score":0.999},"hvar":{"pred":"D","rankscore":0.72923,"score":0.973}},"primateai":{"pred":"T","rankscore":0.26627,"score":0.411230623722},"provean":{"converted_rankscore":0.94872,"pred":"D","score":-7.44},"ref":"A","reliability_index":10,"revel":{"rankscore":0.54358,"score":0.239},"sift":{"converted_rankscore":0.91255,"pred":"D","score":0.0},"sift4g":{"converted_rankscore":0.83351,"pred":"D","score":0.001},"siphy_29way":{"logodds_rankscore":0.40916,"logodds_score":9.9697,"pi":{"a":0.8647,"c":0.0,"g":0.1353,"t":0.0}},"tsl":1,"uniprot":{"acc":"Q92889","entry":"XPF_HUMAN"},"varity":{"er":{"rankscore":0.85505,"score":0.75473934},"er_loo":{"rankscore":0.85506,"score":0.75473934},"r":{"rankscore":0.95089,"score":0.93844384},"r_loo":{"rankscore":0.95089,"score":0.93844384}},"vep_canonical":"YES","vest4":{"rankscore":0.67822,"score":0.67},"vindijia_neandertal":["A","A"]},"hg38":{"end":13948130,"start":13948130},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":{"cdna":{"length":"6761","position":"2543"},"cds":{"length":"2751","position":"2534"},"effect":"missense_variant","feature_id":"NM_005236.2","feature_type":"transcript","gene_id":"ERCC4","genename":"ERCC4","hgvs_c":"c.2534A>T","hgvs_p":"p.Asn845Ile","protein":{"length":"916","position":"845"},"putative_impact":"MODERATE","rank":"11","total":"11","transcript_biotype":"protein_coding"}},"vcf":{"alt":"T","position":"13948130","ref":"A"}}