{"_id":"chr3:g.165830066T>G","_version":1,"chrom":"3","clingen":{"caid":"CA355111694"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"A","codon_degeneracy":0,"codonpos":2,"pos":323,"ref":"D","refcodon":"GAT"},"alphamissense":{"pred":"P","rankscore":0.7508,"score":0.7506},"alt":"G","altai_neandertal":["T","T"],"ancestral_allele":"T","appris":"principal1","bayesdel":{"add_af":{"pred":"D","rankscore":0.95634,"score":0.545625},"no_af":{"pred":"D","rankscore":0.95569,"score":0.545976}},"bstatistic":{"converted_rankscore":0.22284,"score":910.0},"cadd":{"phred":25.3,"raw_rankscore":0.69084,"raw_score":4.446799},"chagyrskaya_neandertal":["T","T"],"chrom":"3","clinpred":{"pred":"D","rankscore":0.9563,"score":0.998937904834747},"dann":{"rankscore":0.70836,"score":0.995466063000585},"denisova":["T","T"],"deogen2":{"pred":"D","rankscore":0.96642,"score":0.85204},"eigen":{"phred_coding":10.8541,"raw_coding":0.892333171047569,"raw_coding_rankscore":0.9138},"eigen-pc":{"phred_coding":9.007819,"raw_coding":0.758665582293397,"raw_coding_rankscore":0.86803},"ensembl":{"geneid":"ENSG00000114200","proteinid":"ENSP00000264381","transcriptid":"ENST00000264381"},"esm1b":{"pred":"D","rankscore":0.85906,"score":-12.22},"eve":{"class10_pred":"U","class20_pred":"U","class25_pred":"U","class30_pred":"U","class40_pred":"U","class50_pred":"U","class60_pred":"P","class70_pred":"P","class75_pred":"P","class80_pred":"P","class90_pred":"P","rankscore":0.80036,"score":0.7193822237194316},"fathmm":{"converted_rankscore":0.97292,"pred":"D","score":-4.35},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.98414,"coding_score":0.99658},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.93289,"coding_score":0.936489},"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":0.27548,"score":0.942990158860711},"gerp++":{"nr":5.42,"rs":5.42,"rs_rankscore":0.78666},"gmvp":{"rankscore":0.85762,"score":0.8579937811660888},"hg18":{"end":167030548,"start":167030548},"hg19":{"end":165547854,"start":165547854},"hg38":{"end":165830066,"start":165830066},"hgvsc":"c.968A>C","hgvsp":["p.Asp323Ala","p.D323A"],"interpro":{"domain":"Carboxylesterase, type B"},"list-s2":{"pred":"D","rankscore":0.68297,"score":0.910609},"lrt":{"converted_rankscore":0.8433,"omega":0.0,"pred":"D","score":0.0},"m-cap":{"pred":"D","rankscore":0.92874,"score":0.376633},"metalr":{"pred":"D","rankscore":0.98986,"score":0.968},"metarnn":{"pred":"D","rankscore":0.94503,"score":0.9516349},"metasvm":{"pred":"D","rankscore":0.99086,"score":1.086},"mpc":{"rankscore":0.1248,"score":0.110578713255},"mutationassessor":{"pred":"H","rankscore":0.95591,"score":3.825},"mutationtaster":{"aae":"D323A","converted_rankscore":0.81001,"model":["simple_aae","without_aae"],"pred":["D","D"],"score":[1.0,1.0]},"mutformer":{"rankscore":0.99925,"score":0.999928},"mutpred":{"aa_change":"D323A","accession":"P06276","pred":{"mechanism":"Loss of glycosylation at T321","p_val":0.0855},"rankscore":0.87063,"score":0.738},"mvp":{"rankscore":0.99994,"score":0.999950524293},"phactboost":{"rankscore":0.87124,"score":0.986578574305036},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.30555,"score":0.566},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.54109,"score":3.643},"17way_primate":{"rankscore":0.62972,"score":0.665},"470way_mammalian":{"rankscore":0.75973,"score":7.957}},"polyphen2":{"hdiv":{"pred":"D","rankscore":0.90584,"score":1.0},"hvar":{"pred":"D","rankscore":0.84481,"score":0.996}},"primateai":{"pred":"T","rankscore":0.47704,"score":0.563089370728},"provean":{"converted_rankscore":0.96058,"pred":"D","score":-7.85},"ref":"T","reliability_index":10,"revel":{"rankscore":0.99622,"score":0.969},"sift":{"converted_rankscore":0.91255,"pred":"D","score":0.0},"sift4g":{"converted_rankscore":0.92824,"pred":"D","score":0.0},"siphy_29way":{"logodds_rankscore":0.68254,"logodds_score":14.6306,"pi":{"a":0.0,"c":0.0,"g":0.0,"t":1.0}},"tsl":1,"uniprot":{"acc":"P06276","entry":"CHLE_HUMAN"},"varity":{"er":{"rankscore":0.9667,"score":0.9238772},"er_loo":{"rankscore":0.9667,"score":0.9238772},"r":{"rankscore":0.98137,"score":0.96867824},"r_loo":{"rankscore":0.98137,"score":0.96867824}},"vep_canonical":"YES","vest4":{"rankscore":0.9255,"score":0.922},"vindijia_neandertal":["T","T"]},"hg38":{"end":165830066,"start":165830066},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"2455","position":"1135"},"cds":{"length":"1809","position":"968"},"effect":"missense_variant","feature_id":"NM_000055.3","feature_type":"transcript","gene_id":"BCHE","genename":"BCHE","hgvs_c":"c.968A>C","hgvs_p":"p.Asp323Ala","protein":{"length":"602","position":"323"},"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+7248A>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.1135A>C","putative_impact":"MODIFIER","rank":"2","total":"5","transcript_biotype":"pseudogene"}]},"vcf":{"alt":"G","position":"165830066","ref":"T"}}