{"_id":"chr3:g.165830049C>G","_version":1,"chrom":"3","clingen":{"caid":"CA355111655"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"H","codon_degeneracy":0,"codonpos":1,"pos":329,"ref":"D","refcodon":"GAC"},"alphamissense":{"pred":"B","rankscore":0.40905,"score":0.1904},"alt":"G","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":"principal1","bayesdel":{"add_af":{"pred":"D","rankscore":0.76583,"score":0.228534},"no_af":{"pred":"D","rankscore":0.76279,"score":0.0904967}},"bstatistic":{"converted_rankscore":0.22284,"score":910.0},"cadd":{"phred":23.2,"raw_rankscore":0.5211,"raw_score":3.66647},"chagyrskaya_neandertal":["C","C"],"chrom":"3","clinpred":{"pred":"D","rankscore":0.69582,"score":0.97213077545166},"dann":{"rankscore":0.64423,"score":0.9943464158210068},"denisova":["C","C"],"deogen2":{"pred":"D","rankscore":0.88373,"score":0.626634},"eigen":{"phred_coding":5.305915,"raw_coding":0.533369899565116,"raw_coding_rankscore":0.69077},"eigen-pc":{"phred_coding":5.921028,"raw_coding":0.574737890749102,"raw_coding_rankscore":0.73133},"ensembl":{"geneid":"ENSG00000114200","proteinid":"ENSP00000264381","transcriptid":"ENST00000264381"},"esm1b":{"pred":"D","rankscore":0.66771,"score":-8.857},"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":0.50443,"score":0.4146863897123427},"fathmm":{"converted_rankscore":0.96496,"pred":"D","score":-4.05},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.98807,"coding_score":0.99703},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.97308,"coding_score":0.955323},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.26702,"score":0.573888},"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":0.4811,"score":0.999951599617212},"gerp":{"91_mammals":{"rankscore":0.67744,"score":3.69}},"gerp++":{"nr":5.62,"rs":5.62,"rs_rankscore":0.85714},"gmvp":{"rankscore":0.58611,"score":0.5868184539463419},"hg18":{"end":167030531,"start":167030531},"hg19":{"end":165547837,"start":165547837},"hg38":{"end":165830049,"start":165830049},"hgvsc":"c.985G>C","hgvsp":["p.D329H","p.Asp329His"],"interpro":{"domain":"Carboxylesterase, type B"},"list-s2":{"pred":"D","rankscore":0.83814,"score":0.957071},"lrt":{"converted_rankscore":0.52346,"omega":0.196194,"pred":"D","score":0.000063},"m-cap":{"pred":"D","rankscore":0.91471,"score":0.320905},"metalr":{"pred":"D","rankscore":0.95975,"score":0.8788},"metarnn":{"pred":"D","rankscore":0.76384,"score":0.7615515},"metasvm":{"pred":"D","rankscore":0.96517,"score":0.9581},"mpc":{"rankscore":0.11392,"score":0.100813171577},"mutationassessor":{"pred":"M","rankscore":0.70455,"score":2.43},"mutationtaster":{"aae":"D329H","converted_rankscore":0.81001,"model":["simple_aae","without_aae"],"pred":["D","D"],"score":[0.999991,1.0]},"mutformer":{"rankscore":0.99474,"score":0.99954045},"mutpred":{"aa_change":"D329H","accession":"P06276","pred":{"mechanism":"Gain of catalytic residue at D332","p_val":0.1941},"rankscore":0.55983,"score":0.48},"mvp":{"rankscore":0.99986,"score":0.99986381636},"phactboost":{"rankscore":0.66561,"score":0.687080376078718},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.34934,"score":0.725},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.60566,"score":4.567},"17way_primate":{"rankscore":0.4025,"score":0.599},"470way_mammalian":{"rankscore":0.53023,"score":6.042}},"polyphen2":{"hdiv":{"pred":"P","rankscore":0.41837,"score":0.699},"hvar":{"pred":"B","rankscore":0.42079,"score":0.33}},"primateai":{"pred":"T","rankscore":0.33331,"score":0.460153698921},"provean":{"converted_rankscore":0.67477,"pred":"D","score":-3.44},"ref":"C","reliability_index":10,"revel":{"rankscore":0.89966,"score":0.717},"sift":{"converted_rankscore":0.72154,"pred":"D","score":0.002},"sift4g":{"converted_rankscore":0.72224,"pred":"D","score":0.005},"siphy_29way":{"logodds_rankscore":0.91332,"logodds_score":18.6354,"pi":{"a":0.0,"c":1.0,"g":0.0,"t":0.0}},"tsl":1,"uniprot":{"acc":"P06276","entry":"CHLE_HUMAN"},"varity":{"er":{"rankscore":0.86547,"score":0.77209926},"er_loo":{"rankscore":0.86548,"score":0.77209926},"r":{"rankscore":0.92131,"score":0.90823114},"r_loo":{"rankscore":0.92132,"score":0.90823114}},"vep_canonical":"YES","vest4":{"rankscore":0.54932,"score":0.519},"vindijia_neandertal":["C","C"]},"hg38":{"end":165830049,"start":165830049},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"2455","position":"1152"},"cds":{"length":"1809","position":"985"},"effect":"missense_variant","feature_id":"NM_000055.3","feature_type":"transcript","gene_id":"BCHE","genename":"BCHE","hgvs_c":"c.985G>C","hgvs_p":"p.Asp329His","protein":{"length":"602","position":"329"},"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+7265G>C","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.1152G>C","putative_impact":"MODIFIER","rank":"2","total":"5","transcript_biotype":"pseudogene"}]},"vcf":{"alt":"G","position":"165830049","ref":"C"}}