{"_id":"chr3:g.165829742A>C","_version":1,"chrom":"3","clingen":{"caid":"CA355110973"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"W","codon_degeneracy":0,"codonpos":2,"pos":431,"ref":"L","refcodon":"TTG"},"alphamissense":{"pred":"B","rankscore":0.44082,"score":0.2124},"alt":"C","altai_neandertal":["A","A"],"ancestral_allele":"A","appris":"principal1","bayesdel":{"add_af":{"pred":"D","rankscore":0.73644,"score":0.197355},"no_af":{"pred":"D","rankscore":0.733,"score":0.04571}},"bstatistic":{"converted_rankscore":0.22284,"score":910.0},"cadd":{"phred":24.0,"raw_rankscore":0.58988,"raw_score":4.002359},"chagyrskaya_neandertal":["A","A"],"chrom":"3","clinpred":{"pred":"T","rankscore":0.30042,"score":0.42950995195435},"dann":{"rankscore":0.28808,"score":0.9613190096771248},"denisova":["A","A"],"deogen2":{"pred":"T","rankscore":0.80706,"score":0.476409},"eigen":{"phred_coding":3.144816,"raw_coding":0.163330685918839,"raw_coding_rankscore":0.49445},"eigen-pc":{"phred_coding":2.566313,"raw_coding":0.0574119864376249,"raw_coding_rankscore":0.4243},"ensembl":{"geneid":"ENSG00000114200","proteinid":"ENSP00000264381","transcriptid":"ENST00000264381"},"esm1b":{"pred":"D","rankscore":0.67749,"score":-9.008},"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":"U","class80_pred":"U","class90_pred":"B","rankscore":0.5152,"score":0.4274954480467938},"fathmm":{"converted_rankscore":0.95728,"pred":"D","score":-3.81},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.34187,"coding_score":0.69437},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.76136,"coding_score":0.844392},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.36545,"score":0.588015},"h1-hesc":{"confidence_value":0,"rankscore":0.51672,"score":0.653264},"huvec":{"confidence_value":0,"rankscore":0.65232,"score":0.668105},"integrated":{"confidence_value":0,"rankscore":0.43195,"score":0.638212}},"gencode_basic":"Y","genename":"BCHE","genocanyon":{"rankscore":0.09238,"score":0.00222070190508859},"gerp":{"91_mammals":{"rankscore":0.30336,"score":1.13}},"gerp++":{"nr":5.46,"rs":5.46,"rs_rankscore":0.80021},"gmvp":{"rankscore":0.77546,"score":0.7759665593012555},"hg18":{"end":167030224,"start":167030224},"hg19":{"end":165547530,"start":165547530},"hg38":{"end":165829742,"start":165829742},"hgvsc":"c.1292T>G","hgvsp":["p.L431W","p.Leu431Trp"],"interpro":{"domain":"Carboxylesterase, type B"},"list-s2":{"pred":"D","rankscore":0.85218,"score":0.960604},"lrt":{"converted_rankscore":0.19676,"omega":0.516748,"pred":"N","score":0.105047},"m-cap":{"pred":"D","rankscore":0.90482,"score":0.288516},"metalr":{"pred":"D","rankscore":0.96089,"score":0.8822},"metarnn":{"pred":"D","rankscore":0.75369,"score":0.7471224},"metasvm":{"pred":"D","rankscore":0.96473,"score":0.9552},"mpc":{"rankscore":0.1266,"score":0.112223347074},"mutationassessor":{"pred":"L","rankscore":0.33326,"score":1.335},"mutationtaster":{"aae":"L431W","converted_rankscore":0.81001,"model":["simple_aae","without_aae"],"pred":["D","D"],"score":[0.98183,1.0]},"mutformer":{"rankscore":0.99555,"score":0.99963},"mutpred":{"aa_change":"L431W","accession":"P06276","pred":{"mechanism":"Gain of catalytic residue at A430","p_val":0.0439},"rankscore":0.73226,"score":0.601},"mvp":{"rankscore":0.99994,"score":0.999941110862},"phactboost":{"rankscore":0.72329,"score":0.834918897148548},"phastcons":{"100way_vertebrate":{"rankscore":0.18154,"score":0.009},"17way_primate":{"rankscore":0.3187,"score":0.619},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.42291,"score":2.193},"17way_primate":{"rankscore":0.84096,"score":0.691},"470way_mammalian":{"rankscore":0.9246,"score":11.312}},"polyphen2":{"hdiv":{"pred":"D","rankscore":0.90584,"score":1.0},"hvar":{"pred":"D","rankscore":0.76457,"score":0.985}},"primateai":{"pred":"T","rankscore":0.3791,"score":0.493397712708},"provean":{"converted_rankscore":0.44657,"pred":"N","score":-1.92},"ref":"A","reliability_index":10,"revel":{"rankscore":0.84559,"score":0.607},"sift":{"converted_rankscore":0.54683,"pred":"D","score":0.012},"sift4g":{"converted_rankscore":0.53072,"pred":"D","score":0.033},"siphy_29way":{"logodds_rankscore":0.68768,"logodds_score":14.7008,"pi":{"a":1.0,"c":0.0,"g":0.0,"t":0.0}},"tsl":1,"uniprot":{"acc":"P06276","entry":"CHLE_HUMAN"},"varity":{"er":{"rankscore":0.66435,"score":0.42664298},"er_loo":{"rankscore":0.66435,"score":0.42664298},"r":{"rankscore":0.70229,"score":0.5549252},"r_loo":{"rankscore":0.7023,"score":0.5549252}},"vep_canonical":"YES","vest4":{"rankscore":0.52651,"score":0.493},"vindijia_neandertal":["A","A"]},"hg38":{"end":165829742,"start":165829742},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"2455","position":"1459"},"cds":{"length":"1809","position":"1292"},"effect":"missense_variant","feature_id":"NM_000055.3","feature_type":"transcript","gene_id":"BCHE","genename":"BCHE","hgvs_c":"c.1292T>G","hgvs_p":"p.Leu431Trp","protein":{"length":"602","position":"431"},"putative_impact":"MODERATE","rank":"2","total":"4","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NR_137635.1","feature_type":"transcript","gene_id":"BCHE","genename":"BCHE","hgvs_c":"n.159+7572T>G","putative_impact":"MODIFIER","rank":"1","total":"2","transcript_biotype":"pseudogene"},{"effect":"non_coding_transcript_exon_variant","feature_id":"NR_137636.1","feature_type":"transcript","gene_id":"BCHE","genename":"BCHE","hgvs_c":"n.1459T>G","putative_impact":"MODIFIER","rank":"2","total":"5","transcript_biotype":"pseudogene"}]},"vcf":{"alt":"C","position":"165829742","ref":"A"}}