{"_id":"chr3:g.165547827T>C","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"C","anc":"T","annotype":"CodingTranscript","bstatistic":748,"chmm":{"bivflnk":0.0,"enh":0.0,"enhbiv":0.0,"het":0.008,"quies":0.945,"reprpc":0.0,"reprpcwk":0.0,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.024,"txflnk":0.0,"txwk":0.024,"znfrpts":0.0},"chrom":3,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.03,"dna":{"helt":-4.31,"mgw":0.26,"prot":3.93,"roll":0.85},"encode":{"exp":14.9,"h3k27ac":2.76,"h3k4me1":2.0,"h3k4me3":2.0,"nucleo":1.8},"exon":"2/4","fitcons":0.65045,"gc":0.41,"gene":{"ccds_id":"CCDS3198.1","cds":{"cdna_pos":1162,"cds_pos":995,"rel_cdna_pos":0.47,"rel_cds_pos":0.55},"feature_id":"ENST00000264381","gene_id":"ENSG00000114200","genename":"BCHE","prot":{"domain":"ndomain","protpos":332,"rel_prot_pos":0.55}},"gerp":{"n":5.62,"rs":4163.2,"rs_pval":0,"s":1.89},"grantham":94,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":51765,"min_dist_tss":7382,"mutindex":-14,"naa":"G","oaa":"D","phast_cons":{"mammalian":0.004,"primate":0.024,"vertebrate":0.239},"phred":0.067,"phylop":{"mammalian":0.087,"primate":-0.321,"vertebrate":1.43},"polyphen":{"cat":"benign","val":0.006},"pos":165547827,"rawscore":-0.713783,"ref":"T","segway":"L1","sift":{"cat":"tolerated","val":0.06},"type":"SNV"},"chrom":"3","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"G","codon_degeneracy":0,"codonpos":2,"pos":332,"ref":"D","refcodon":"GAC"},"alphamissense":{"pred":"B","rankscore":0.0536,"score":0.0747},"alt":"C","altai_neandertal":["T","T"],"ancestral_allele":"T","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.51804,"score":0.00108356},"no_af":{"pred":"T","rankscore":0.51166,"score":-0.23622}},"bstatistic":{"converted_rankscore":0.22284,"score":910.0},"chagyrskaya_neandertal":["T","T"],"chrom":"3","clinpred":{"pred":"T","rankscore":0.12225,"score":0.0987991392612457},"dann":{"rankscore":0.2099,"score":0.9169683297070103},"denisova":["T","T"],"deogen2":{"pred":"T","rankscore":0.78316,"score":0.436975},"eigen":{"phred_coding":0.6191177,"raw_coding":-0.825092308105298,"raw_coding_rankscore":0.12671},"eigen-pc":{"phred_coding":0.7677278,"raw_coding":-0.792853373317251,"raw_coding_rankscore":0.1467},"ensembl":{"geneid":"ENSG00000114200","proteinid":"ENSP00000264381","transcriptid":"ENST00000264381"},"esm1b":{"pred":"T","rankscore":0.41455,"score":-5.456},"eve":{"class10_pred":"U","class20_pred":"U","class25_pred":"U","class30_pred":"U","class40_pred":"U","class50_pred":"B","class60_pred":"B","class70_pred":"B","class75_pred":"B","class80_pred":"B","class90_pred":"B","rankscore":0.28953,"score":0.21536757398311587},"fathmm":{"converted_rankscore":0.95282,"pred":"D","score":-3.68},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.45059,"coding_score":0.85875},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.58266,"coding_score":0.583449},"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":0.47308,"score":0.620846},"integrated":{"confidence_value":0,"rankscore":0.43195,"score":0.638212}},"gencode_basic":"Y","genename":"BCHE","genocanyon":{"rankscore":0.01202,"score":6.38613808517953e-6},"gerp":{"91_mammals":{"rankscore":0.29694,"score":1.06}},"gerp++":{"nr":5.62,"rs":1.89,"rs_rankscore":0.247},"gmvp":{"rankscore":0.56216,"score":0.5628916809263433},"hg18":{"end":167030521,"start":167030521},"hg19":{"end":165547827,"start":165547827},"hg38":{"end":165830039,"start":165830039},"hgvsc":"c.995A>G","hgvsp":["p.Asp332Gly","p.D332G"],"interpro":{"domain":"Carboxylesterase, type B"},"list-s2":{"pred":"T","rankscore":0.47762,"score":0.819518},"lrt":{"converted_rankscore":0.30598,"omega":0.392427,"pred":"N","score":0.008936},"m-cap":{"pred":"D","rankscore":0.49938,"score":0.027087},"metalr":{"pred":"D","rankscore":0.88159,"score":0.6593},"metarnn":{"pred":"T","rankscore":0.34086,"score":0.18627909},"metasvm":{"pred":"T","rankscore":0.78904,"score":-0.1505},"mpc":{"rankscore":0.01408,"score":0.0147969387821},"mutationassessor":{"pred":"L","rankscore":0.32305,"score":1.285},"mutationtaster":{"aae":"D332G","converted_rankscore":0.23105,"model":["simple_aae","without_aae"],"pred":["N","N"],"score":[0.999995,0.996137]},"mutformer":{"rankscore":0.98147,"score":0.9967055},"mutpred":{"aa_change":"D332G","accession":"P06276","pred":{"mechanism":"Gain of catalytic residue at L337","p_val":0.1788},"rankscore":0.68229,"score":0.562},"mvp":{"rankscore":0.99757,"score":0.997601983733},"phactboost":{"rankscore":0.39626,"score":0.0663516157198166},"phastcons":{"100way_vertebrate":{"rankscore":0.25891,"score":0.366},"17way_primate":{"rankscore":0.16518,"score":0.068},"470way_mammalian":{"rankscore":0.1899,"score":0.004}},"phylop":{"100way_vertebrate":{"rankscore":0.35376,"score":1.508},"17way_primate":{"rankscore":0.11859,"score":-0.155},"470way_mammalian":{"rankscore":0.24681,"score":1.179}},"polyphen2":{"hdiv":{"pred":"B","rankscore":0.02946,"score":0.0},"hvar":{"pred":"B","rankscore":0.14941,"score":0.01}},"primateai":{"pred":"T","rankscore":0.03541,"score":0.247821286321},"provean":{"converted_rankscore":0.51478,"pred":"N","score":-2.32},"ref":"T","reliability_index":10,"revel":{"rankscore":0.54074,"score":0.237},"sift":{"converted_rankscore":0.49613,"pred":"D","score":0.02},"sift4g":{"converted_rankscore":0.43531,"pred":"T","score":0.071},"siphy_29way":{"logodds_rankscore":0.20463,"logodds_score":6.3283,"pi":{"a":0.0,"c":0.1411,"g":0.1338,"t":0.7251}},"tsl":1,"uniprot":{"acc":"P06276","entry":"CHLE_HUMAN"},"varity":{"er":{"rankscore":0.33012,"score":0.13819744},"er_loo":{"rankscore":0.33011,"score":0.13819744},"r":{"rankscore":0.59969,"score":0.38911366},"r_loo":{"rankscore":0.59969,"score":0.38911366}},"vep_canonical":"YES","vest4":{"rankscore":0.06322,"score":0.086},"vindijia_neandertal":["T","T"]},"hg19":{"end":165547827,"start":165547827},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"2455","position":"1162"},"cds":{"length":"1809","position":"995"},"effect":"missense_variant","feature_id":"NM_000055.3","feature_type":"transcript","gene_id":"BCHE","genename":"BCHE","hgvs_c":"c.995A>G","hgvs_p":"p.Asp332Gly","protein":{"length":"602","position":"332"},"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+7275A>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.1162A>G","putative_impact":"MODIFIER","rank":"2","total":"5","transcript_biotype":"pseudogene"}]},"vcf":{"alt":"C","position":"165547827","ref":"T"}}