{"_id":"chr3:g.165547723T>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":0.016,"quies":0.937,"reprpc":0.0,"reprpcwk":0.0,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.016,"txflnk":0.0,"txwk":0.031,"znfrpts":0.0},"chrom":3,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.0,"dna":{"helt":-4.17,"mgw":0.34,"prot":4.19,"roll":1.74},"encode":{"exp":14.9,"h3k27ac":2.0,"h3k4me1":2.0,"h3k4me3":1.0,"nucleo":0.2},"exon":"2/4","fitcons":0.577621,"gc":0.35,"gene":{"ccds_id":"CCDS3198.1","cds":{"cdna_pos":1266,"cds_pos":1099,"rel_cdna_pos":0.52,"rel_cds_pos":0.61},"feature_id":"ENST00000264381","gene_id":"ENSG00000114200","genename":"BCHE","prot":{"domain":"ndomain","protpos":367,"rel_prot_pos":0.61}},"gerp":{"n":5.55,"rs":4163.2,"rs_pval":0,"s":4.38},"grantham":56,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":51661,"min_dist_tss":7486,"mutindex":0,"naa":"E","oaa":"K","phast_cons":{"mammalian":1.0,"primate":0.872,"vertebrate":1.0},"phred":24.3,"phylop":{"mammalian":0.916,"primate":0.53,"vertebrate":2.994},"polyphen":{"cat":"possibly_damaging","val":0.622},"pos":165547723,"rawscore":4.538305,"ref":"T","segway":"F0","sift":{"cat":"deleterious","val":0.04},"type":"SNV"},"chrom":"3","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"E","codon_degeneracy":0,"codonpos":1,"pos":367,"ref":"K","refcodon":"AAA"},"alphamissense":{"pred":"B","rankscore":0.55152,"score":0.329},"alt":"C","ancestral_allele":"T","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.54251,"score":0.019035},"no_af":{"pred":"T","rankscore":0.53654,"score":-0.210434}},"bstatistic":{"converted_rankscore":0.22284,"score":910.0},"chrom":"3","clinpred":{"pred":"D","rankscore":0.66008,"score":0.961176991462708},"dann":{"rankscore":0.87308,"score":0.9978711552190267},"deogen2":{"pred":"D","rankscore":0.8386,"score":0.532767},"eigen":{"phred_coding":3.765599,"raw_coding":0.29734725753372,"raw_coding_rankscore":0.56014},"eigen-pc":{"phred_coding":3.932702,"raw_coding":0.335875652619035,"raw_coding_rankscore":0.57662},"ensembl":{"geneid":"ENSG00000114200","proteinid":"ENSP00000264381","transcriptid":"ENST00000264381"},"esm1b":{"pred":"T","rankscore":0.54667,"score":-7.087},"fathmm":{"converted_rankscore":0.66474,"pred":"T","score":-0.22},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.72527,"coding_score":0.97072},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.84036,"coding_score":0.897786},"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":0.10539,"score":0.00440554736601703},"gerp":{"91_mammals":{"rankscore":0.73859,"score":3.9}},"gerp++":{"nr":5.55,"rs":4.38,"rs_rankscore":0.52019},"gmvp":{"rankscore":0.68631,"score":0.6869141956863446},"hg18":{"end":167030417,"start":167030417},"hg19":{"end":165547723,"start":165547723},"hg38":{"end":165829935,"start":165829935},"hgvsc":"c.1099A>G","hgvsp":["p.K367E","p.Lys367Glu"],"interpro":{"domain":"Carboxylesterase, type B"},"list-s2":{"pred":"D","rankscore":0.79334,"score":0.945705},"lrt":{"converted_rankscore":0.62929,"omega":0.105621,"pred":"D","score":3e-6},"m-cap":{"pred":"D","rankscore":0.68366,"score":0.061548},"metalr":{"pred":"T","rankscore":0.64936,"score":0.2775},"metarnn":{"pred":"D","rankscore":0.71892,"score":0.6916477},"metasvm":{"pred":"T","rankscore":0.67095,"score":-0.5418},"mpc":{"rankscore":0.05653,"score":0.0513843106545},"mutationassessor":{"pred":"L","rankscore":0.36711,"score":1.45},"mutationtaster":{"aae":"K367E","converted_rankscore":0.81001,"model":["simple_aae","without_aae"],"pred":["D","D"],"score":[0.999691,1.0]},"mutformer":{"rankscore":0.99026,"score":0.9988902},"mutpred":{"aa_change":"K367E","accession":"P06276","pred":{"mechanism":"Loss of ubiquitination at K367","p_val":0.0155},"rankscore":0.52753,"score":0.46},"mvp":{"rankscore":0.876,"score":0.877200492284},"phactboost":{"rankscore":0.75764,"score":0.896196331663381},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.51019,"score":0.957},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.67141,"score":5.577},"17way_primate":{"rankscore":0.62972,"score":0.665},"470way_mammalian":{"rankscore":0.75973,"score":7.957}},"polyphen2":{"hdiv":{"pred":"P","rankscore":0.41837,"score":0.699},"hvar":{"pred":"B","rankscore":0.42432,"score":0.341}},"primateai":{"pred":"T","rankscore":0.50333,"score":0.58175110817},"provean":{"converted_rankscore":0.54546,"pred":"D","score":-2.51},"ref":"T","reliability_index":10,"revel":{"rankscore":0.56959,"score":0.258},"sift":{"converted_rankscore":0.54683,"pred":"D","score":0.012},"sift4g":{"converted_rankscore":0.27679,"pred":"T","score":0.199},"siphy_29way":{"logodds_rankscore":0.52383,"logodds_score":11.9762,"pi":{"a":0.0,"c":0.0,"g":0.1452,"t":0.8548}},"tsl":1,"uniprot":{"acc":"P06276","entry":"CHLE_HUMAN"},"varity":{"er":{"rankscore":0.81779,"score":0.69033235},"er_loo":{"rankscore":0.8178,"score":0.69033235},"r":{"rankscore":0.85582,"score":0.8253453},"r_loo":{"rankscore":0.85583,"score":0.8253453}},"vep_canonical":"YES","vest4":{"rankscore":0.59648,"score":0.574}},"hg19":{"end":165547723,"start":165547723},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"2455","position":"1266"},"cds":{"length":"1809","position":"1099"},"effect":"missense_variant","feature_id":"NM_000055.3","feature_type":"transcript","gene_id":"BCHE","genename":"BCHE","hgvs_c":"c.1099A>G","hgvs_p":"p.Lys367Glu","protein":{"length":"602","position":"367"},"putative_impact":"MODERATE","rank":"2","total":"4","transcript_biotype":"protein_coding"},{"effect":"sequence_feature","feature_id":"NM_000055.3","feature_type":"beta-strand:combinatorial_evidence_used_in_manual_assertion","gene_id":"BCHE","genename":"BCHE","hgvs_c":"c.1099A>G","putative_impact":"LOW","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+7379A>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.1266A>G","putative_impact":"MODIFIER","rank":"2","total":"5","transcript_biotype":"pseudogene"}]},"vcf":{"alt":"C","position":"165547723","ref":"T"}}