{"_id":"chr3:g.165830127T>C","_version":1,"chrom":"3","clingen":{"caid":"CA355111818"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"D","codon_degeneracy":0,"codonpos":1,"pos":303,"ref":"N","refcodon":"AAT"},"alphamissense":{"pred":"B","rankscore":0.2585,"score":0.1233},"alt":"C","altai_neandertal":["T","T"],"ancestral_allele":"T","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.32798,"score":-0.121998},"no_af":{"pred":"T","rankscore":0.31877,"score":-0.413018}},"bstatistic":{"converted_rankscore":0.22284,"score":910.0},"cadd":{"phred":17.31,"raw_rankscore":0.26979,"raw_score":2.119596},"chagyrskaya_neandertal":["T","T"],"chrom":"3","clinpred":{"pred":"T","rankscore":0.2539,"score":0.309425383806229},"dann":{"rankscore":0.53709,"score":0.9914696641903106},"denisova":["T","T"],"deogen2":{"pred":"D","rankscore":0.88992,"score":0.641017},"eigen":{"phred_coding":1.868226,"raw_coding":-0.202950231115739,"raw_coding_rankscore":0.33012},"eigen-pc":{"phred_coding":2.065915,"raw_coding":-0.0933921184922427,"raw_coding_rankscore":0.35662},"ensembl":{"geneid":"ENSG00000114200","proteinid":"ENSP00000264381","transcriptid":"ENST00000264381"},"esm1b":{"pred":"T","rankscore":0.5116,"score":-6.614},"eve":{"class10_pred":"U","class20_pred":"U","class25_pred":"U","class30_pred":"U","class40_pred":"U","class50_pred":"U","class60_pred":"B","class70_pred":"B","class75_pred":"B","class80_pred":"B","class90_pred":"B","rankscore":0.32705,"score":0.2414442607882814},"fathmm":{"converted_rankscore":0.67543,"pred":"T","score":-0.28},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.369,"coding_score":0.75372},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.50992,"coding_score":0.459222},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.36545,"score":0.588015},"h1-hesc":{"confidence_value":0,"rankscore":0.43123,"score":0.618467},"huvec":{"confidence_value":0,"rankscore":0.47308,"score":0.620846},"integrated":{"confidence_value":0,"rankscore":0.25195,"score":0.553676}},"gencode_basic":"Y","genename":"BCHE","genocanyon":{"rankscore":0.01202,"score":2.91718141261243e-6},"gerp":{"91_mammals":{"rankscore":0.61887,"score":3.42}},"gerp++":{"nr":5.42,"rs":2.83,"rs_rankscore":0.3215},"gmvp":{"rankscore":0.55981,"score":0.5605408689462154},"hg18":{"end":167030609,"start":167030609},"hg19":{"end":165547915,"start":165547915},"hg38":{"end":165830127,"start":165830127},"hgvsc":"c.907A>G","hgvsp":["p.Asn303Asp","p.N303D"],"interpro":{"domain":"Carboxylesterase, type B"},"list-s2":{"pred":"D","rankscore":0.7076,"score":0.918608},"lrt":{"converted_rankscore":0.38326,"omega":0.309371,"pred":"N","score":0.001664},"m-cap":{"pred":"D","rankscore":0.49621,"score":0.026737},"metalr":{"pred":"T","rankscore":0.60988,"score":0.2417},"metarnn":{"pred":"D","rankscore":0.62126,"score":0.51155984},"metasvm":{"pred":"T","rankscore":0.6162,"score":-0.6746},"mpc":{"rankscore":0.03413,"score":0.0326433428696},"mutationassessor":{"pred":"L","rankscore":0.3237,"score":1.29},"mutationtaster":{"aae":"N303D","converted_rankscore":0.81001,"model":["simple_aae","without_aae"],"pred":["D","D"],"score":[0.707638,1.0]},"mutformer":{"rankscore":0.98458,"score":0.99763584},"mutpred":{"aa_change":"N303D","accession":"P06276","pred":{"mechanism":"Gain of relative solvent accessibility","p_val":0.09},"rankscore":0.68499,"score":0.564},"mvp":{"rankscore":0.83308,"score":0.834658348967},"phactboost":{"rankscore":0.58213,"score":0.417795523925993},"phastcons":{"100way_vertebrate":{"rankscore":0.26409,"score":0.43},"17way_primate":{"rankscore":0.52141,"score":0.962},"470way_mammalian":{"rankscore":0.35428,"score":0.999}},"phylop":{"100way_vertebrate":{"rankscore":0.2322,"score":0.561},"17way_primate":{"rankscore":0.62972,"score":0.665},"470way_mammalian":{"rankscore":0.3411,"score":2.694}},"polyphen2":{"hdiv":{"pred":"B","rankscore":0.09854,"score":0.002},"hvar":{"pred":"B","rankscore":0.19966,"score":0.023}},"primateai":{"pred":"T","rankscore":0.25899,"score":0.405973315239},"provean":{"converted_rankscore":0.52289,"pred":"N","score":-2.37},"ref":"T","reliability_index":10,"revel":{"rankscore":0.25827,"score":0.089},"sift":{"converted_rankscore":0.4691,"pred":"D","score":0.026},"sift4g":{"converted_rankscore":0.23298,"pred":"T","score":0.256},"siphy_29way":{"logodds_rankscore":0.57081,"logodds_score":12.8218,"pi":{"a":0.0,"c":0.0,"g":0.2696,"t":0.7304}},"tsl":1,"uniprot":{"acc":"P06276","entry":"CHLE_HUMAN"},"varity":{"er":{"rankscore":0.7582,"score":0.5829327},"er_loo":{"rankscore":0.75821,"score":0.5829327},"r":{"rankscore":0.80996,"score":0.7521998},"r_loo":{"rankscore":0.80998,"score":0.7521998}},"vep_canonical":"YES","vest4":{"rankscore":0.54409,"score":0.513},"vindijia_neandertal":["T","T"]},"hg38":{"end":165830127,"start":165830127},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"2455","position":"1074"},"cds":{"length":"1809","position":"907"},"effect":"missense_variant","feature_id":"NM_000055.3","feature_type":"transcript","gene_id":"BCHE","genename":"BCHE","hgvs_c":"c.907A>G","hgvs_p":"p.Asn303Asp","protein":{"length":"602","position":"303"},"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+7187A>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.1074A>G","putative_impact":"MODIFIER","rank":"2","total":"5","transcript_biotype":"pseudogene"}]},"vcf":{"alt":"C","position":"165830127","ref":"T"}}