{"_id":"chr3:g.165829772A>C","_version":1,"chrom":"3","clingen":{"caid":"CA355111037"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"G","codon_degeneracy":0,"codonpos":2,"pos":421,"ref":"V","refcodon":"GTT"},"alphamissense":{"pred":"B","rankscore":0.47338,"score":0.2394},"alt":"C","altai_neandertal":["A","A"],"ancestral_allele":"A","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.56676,"score":0.0372023},"no_af":{"pred":"T","rankscore":0.56119,"score":-0.184338}},"bstatistic":{"converted_rankscore":0.22284,"score":910.0},"cadd":{"phred":21.4,"raw_rankscore":0.41513,"raw_score":3.084698},"chagyrskaya_neandertal":["A","A"],"chrom":"3","clinpred":{"pred":"D","rankscore":0.6749,"score":0.966149568557739},"dann":{"rankscore":0.56089,"score":0.9922697086363992},"denisova":["A","A"],"deogen2":{"pred":"D","rankscore":0.88454,"score":0.628476},"eigen":{"phred_coding":2.647723,"raw_coding":0.0376379465118593,"raw_coding_rankscore":0.43575},"eigen-pc":{"phred_coding":2.519067,"raw_coding":0.0448275903044699,"raw_coding_rankscore":0.41822},"ensembl":{"geneid":"ENSG00000114200","proteinid":"ENSP00000264381","transcriptid":"ENST00000264381"},"esm1b":{"pred":"D","rankscore":0.71331,"score":-9.576},"eve":{"class10_pred":"U","class20_pred":"U","class25_pred":"U","class30_pred":"U","class40_pred":"U","class50_pred":"U","class60_pred":"U","class70_pred":"B","class75_pred":"B","class80_pred":"B","class90_pred":"B","rankscore":0.43104,"score":0.3330515665557889},"fathmm":{"converted_rankscore":0.69413,"pred":"T","score":-0.41},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.73623,"coding_score":0.97257},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.83324,"coding_score":0.894343},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.26702,"score":0.573888},"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":0.26574,"score":0.918511605364451},"gerp":{"91_mammals":{"rankscore":0.73859,"score":3.9}},"gerp++":{"nr":5.46,"rs":5.46,"rs_rankscore":0.80021},"gmvp":{"rankscore":0.74489,"score":0.7454303645195577},"hg18":{"end":167030254,"start":167030254},"hg19":{"end":165547560,"start":165547560},"hg38":{"end":165829772,"start":165829772},"hgvsc":"c.1262T>G","hgvsp":["p.V421G","p.Val421Gly"],"interpro":{"domain":"Carboxylesterase, type B"},"list-s2":{"pred":"T","rankscore":0.34112,"score":0.726827},"lrt":{"converted_rankscore":0.14433,"omega":0.701563,"pred":"N","score":0.31108},"m-cap":{"pred":"D","rankscore":0.79245,"score":0.113819},"metalr":{"pred":"T","rankscore":0.63044,"score":0.2596},"metarnn":{"pred":"D","rankscore":0.71963,"score":0.6928716},"metasvm":{"pred":"T","rankscore":0.66688,"score":-0.5526},"mpc":{"rankscore":0.06145,"score":0.0555420841197},"mutationassessor":{"pred":"L","rankscore":0.46417,"score":1.785},"mutationtaster":{"aae":"V421G","converted_rankscore":0.81001,"model":["simple_aae","without_aae"],"pred":["D","D"],"score":[0.999998,1.0]},"mutformer":{"rankscore":0.99096,"score":0.9990081},"mutpred":{"aa_change":"V421G","accession":"P06276","pred":{"mechanism":"Loss of stability","p_val":0.0166},"rankscore":0.91584,"score":0.795},"mvp":{"rankscore":0.95831,"score":0.958750989088},"phactboost":{"rankscore":0.79774,"score":0.944264407298878},"phastcons":{"100way_vertebrate":{"rankscore":0.25342,"score":0.302},"17way_primate":{"rankscore":0.27761,"score":0.444},"470way_mammalian":{"rankscore":0.30433,"score":0.981}},"phylop":{"100way_vertebrate":{"rankscore":0.6179,"score":4.741},"17way_primate":{"rankscore":0.84096,"score":0.691},"470way_mammalian":{"rankscore":0.7666,"score":8.133}},"polyphen2":{"hdiv":{"pred":"P","rankscore":0.38321,"score":0.558},"hvar":{"pred":"B","rankscore":0.3554,"score":0.174}},"primateai":{"pred":"T","rankscore":0.06493,"score":0.272682756186},"provean":{"converted_rankscore":0.84742,"pred":"D","score":-5.35},"ref":"A","reliability_index":10,"revel":{"rankscore":0.79643,"score":0.521},"sift":{"converted_rankscore":0.91255,"pred":"D","score":0.0},"sift4g":{"converted_rankscore":0.83351,"pred":"D","score":0.001},"siphy_29way":{"logodds_rankscore":0.68768,"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":0.9555,"score":0.90805596},"er_loo":{"rankscore":0.95551,"score":0.90805596},"r":{"rankscore":0.94275,"score":0.9303754},"r_loo":{"rankscore":0.94275,"score":0.9303754}},"vep_canonical":"YES","vest4":{"rankscore":0.46555,"score":0.426},"vindijia_neandertal":["A","A"]},"hg38":{"end":165829772,"start":165829772},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"2455","position":"1429"},"cds":{"length":"1809","position":"1262"},"effect":"missense_variant","feature_id":"NM_000055.3","feature_type":"transcript","gene_id":"BCHE","genename":"BCHE","hgvs_c":"c.1262T>G","hgvs_p":"p.Val421Gly","protein":{"length":"602","position":"421"},"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+7542T>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.1429T>G","putative_impact":"MODIFIER","rank":"2","total":"5","transcript_biotype":"pseudogene"}]},"vcf":{"alt":"C","position":"165829772","ref":"A"}}