{"_id":"chr3:g.43647281C>A","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"A","anc":"C","annotype":"CodingTranscript","bstatistic":606,"chmm":{"bivflnk":0.0,"enh":0.0,"enhbiv":0.0,"het":0.0,"quies":0.323,"reprpc":0.0,"reprpcwk":0.0,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.047,"txflnk":0.0,"txwk":0.622,"znfrpts":0.0},"chrom":3,"consdetail":"stop_gained","consequence":"STOP_GAINED","consscore":8,"cpg":0.0,"dna":{"helt":0.02,"mgw":0.35,"prot":-2.58,"roll":-1.46},"encode":{"exp":234.12,"h3k27ac":1.16,"h3k4me1":3.36,"h3k4me3":2.0,"nucleo":1.7},"exon":"2/13","fitcons":0.577621,"gc":0.36,"gene":{"ccds_id":"CCDS2710.2","cds":{"cdna_pos":235,"cds_pos":64,"rel_cdna_pos":0.07,"rel_cds_pos":0.03},"feature_id":"ENST00000292246","gene_id":"ENSG00000160746","genename":"ANO10","prot":{"protpos":22,"rel_prot_pos":0.03}},"gerp":{"n":5.98,"rs":474.3,"rs_pval":4.69619e-97,"s":5.98},"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":52,"min_dist_tss":16109,"mutindex":45,"naa":"*","oaa":"E","phast_cons":{"mammalian":1.0,"primate":0.991,"vertebrate":1.0},"phred":38,"phylop":{"mammalian":2.84,"primate":0.645,"vertebrate":5.002},"pos":43647281,"rawscore":12.029641,"ref":"C","segway":"GE0","type":"SNV"},"chrom":"3","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"X","codon_degeneracy":[0,0,0,0,0,0,0,0,0,0,0,0,0],"codonpos":[1,1,1,1,1,1,1,1,1,1,1,1,1],"pos":[22,22,22,22,22,22,22,22,22,22,22,22,22],"ref":"E","refcodon":["GAA","GAA","GAA","GAA","GAA","GAA","GAA","GAA","GAA","GAA","GAA","GAA","GAA"]},"aloft":{"confidence":"High","fraction_transcripts_affected":"5/5","pred":"Recessive","prob_dominant":"0.0352","prob_recessive":"0.95385","prob_tolerant":"0.01095"},"alt":"A","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":"principal1","bayesdel":{"add_af":{"pred":"D","rankscore":0.99412,"score":0.625005},"no_af":{"pred":"D","rankscore":0.99401,"score":0.66}},"bstatistic":{"converted_rankscore":0.68897,"score":590.0},"chagyrskaya_neandertal":["C","C"],"chrom":"3","dann":{"rankscore":0.79373,"score":0.9968296696522886},"denisova":["C","C"],"eigen":{"phred_coding":14.33697,"raw_coding":1.01303367555502,"raw_coding_rankscore":0.96132},"eigen-pc":{"phred_coding":14.30486,"raw_coding":0.912684397275848,"raw_coding_rankscore":0.96102},"ensembl":{"geneid":["ENSG00000160746","ENSG00000160746","ENSG00000160746","ENSG00000160746","ENSG00000160746","ENSG00000160746","ENSG00000160746","ENSG00000160746","ENSG00000160746","ENSG00000160746","ENSG00000160746","ENSG00000160746","ENSG00000160746"],"proteinid":["ENSP00000292246","ENSP00000327767","ENSP00000379398","ENSP00000396990","ENSP00000394119","ENSP00000406432","ENSP00000416266","ENSP00000402010","ENSP00000402845","ENSP00000399103","ENSP00000397360","ENSP00000406712","ENSP00000404988"],"transcriptid":["ENST00000292246","ENST00000350459","ENST00000396091","ENST00000414522","ENST00000451430","ENST00000427171","ENST00000428472","ENST00000444344","ENST00000456438","ENST00000413397","ENST00000439141","ENST00000428831","ENST00000436073"]},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.84349,"coding_score":0.98582},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.2078,"coding_score":0.103761},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.36545,"score":0.588015},"h1-hesc":{"confidence_value":0,"rankscore":0.75317,"score":0.709663},"huvec":{"confidence_value":0,"rankscore":0.41899,"score":0.613276},"integrated":{"confidence_value":0,"rankscore":0.61202,"score":0.706298}},"gencode_basic":["Y","Y","Y","Y","Y"],"genename":["ANO10","ANO10","ANO10","ANO10","ANO10","ANO10","ANO10","ANO10","ANO10","ANO10","ANO10","ANO10","ANO10"],"genocanyon":{"rankscore":0.74766,"score":0.999999999686358},"gerp":{"91_mammals":{"rankscore":0.75185,"score":3.95}},"gerp++":{"nr":5.98,"rs":5.98,"rs_rankscore":0.97147},"hg18":{"end":43622285,"start":43622285},"hg19":{"end":43647281,"start":43647281},"hg38":{"end":43605789,"start":43605789},"hgvsc":"c.64G>T","hgvsp":["p.E22X","p.Glu22*","p.Glu22Ter"],"lrt":{"converted_rankscore":0.8433,"omega":0.051541,"pred":"D","score":0.0},"mutationtaster":{"aae":["E22*","E22*","E22*","E22*","E22*"],"converted_rankscore":0.81001,"model":["complex_aae","complex_aae","complex_aae","complex_aae","complex_aae"],"pred":["A","A","A","A","A"],"score":[1.0,1.0,1.0,1.0,1.0]},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.79791,"score":0.997},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.75816,"score":6.957},"17way_primate":{"rankscore":0.4025,"score":0.599},"470way_mammalian":{"rankscore":0.615,"score":7.599}},"ref":"C","siphy_29way":{"logodds_rankscore":0.99148,"logodds_score":20.4561,"pi":{"a":0.0,"c":1.0,"g":0.0,"t":0.0}},"tsl":[1,1,2,2,2,5,4,3,4,4,4,5,4],"uniprot":[{"acc":"Q9NW15","entry":"ANO10_HUMAN"},{"acc":"Q9NW15-2","entry":"ANO10_HUMAN"},{"acc":"Q9NW15-3","entry":"ANO10_HUMAN"},{"acc":"Q9NW15-5","entry":"ANO10_HUMAN"},{"acc":"Q9NW15-4","entry":"ANO10_HUMAN"},{"acc":"C9J670","entry":"C9J670_HUMAN"},{"acc":"C9JH90","entry":"C9JH90_HUMAN"},{"acc":"C9JPY2","entry":"C9JPY2_HUMAN"},{"acc":"C9JQC9","entry":"C9JQC9_HUMAN"},{"acc":"C9IYD3","entry":"C9IYD3_HUMAN"},{"acc":"C9JA49","entry":"C9JA49_HUMAN"},{"acc":"C9IZD0","entry":"C9IZD0_HUMAN"},{"acc":"C9JJS5","entry":"C9JJS5_HUMAN"}],"vep_canonical":"YES","vest4":{"rankscore":0.44379,"score":[0.39,0.403,0.395,0.387,0.379]},"vindijia_neandertal":["C","C"]},"hg19":{"end":43647281,"start":43647281},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"2734","position":"235"},"cds":{"length":"1983","position":"64"},"effect":"stop_gained","feature_id":"NM_018075.3","feature_type":"transcript","gene_id":"ANO10","genename":"ANO10","hgvs_c":"c.64G>T","hgvs_p":"p.Glu22*","protein":{"length":"660","position":"22"},"putative_impact":"HIGH","rank":"2","total":"13","transcript_biotype":"protein_coding"},{"cdna":{"length":"2737","position":"235"},"cds":{"length":"1884","position":"64"},"effect":"stop_gained","feature_id":"NM_001204831.1","feature_type":"transcript","gene_id":"ANO10","genename":"ANO10","hgvs_c":"c.64G>T","hgvs_p":"p.Glu22*","protein":{"length":"627","position":"22"},"putative_impact":"HIGH","rank":"2","total":"13","transcript_biotype":"protein_coding"},{"cdna":{"length":"2536","position":"235"},"cds":{"length":"1785","position":"64"},"effect":"stop_gained","feature_id":"NM_001204832.1","feature_type":"transcript","gene_id":"ANO10","genename":"ANO10","hgvs_c":"c.64G>T","hgvs_p":"p.Glu22*","protein":{"length":"594","position":"22"},"putative_impact":"HIGH","rank":"2","total":"12","transcript_biotype":"protein_coding"},{"cdna":{"length":"2401","position":"235"},"cds":{"length":"1650","position":"64"},"effect":"stop_gained","feature_id":"NM_001204833.1","feature_type":"transcript","gene_id":"ANO10","genename":"ANO10","hgvs_c":"c.64G>T","hgvs_p":"p.Glu22*","protein":{"length":"549","position":"22"},"putative_impact":"HIGH","rank":"2","total":"11","transcript_biotype":"protein_coding"},{"cdna":{"length":"2164","position":"235"},"cds":{"length":"1413","position":"64"},"effect":"stop_gained","feature_id":"NM_001204834.1","feature_type":"transcript","gene_id":"ANO10","genename":"ANO10","hgvs_c":"c.64G>T","hgvs_p":"p.Glu22*","protein":{"length":"470","position":"22"},"putative_impact":"HIGH","rank":"2","total":"12","transcript_biotype":"protein_coding"}],"lof":{"gene_id":"ANO10","genename":"ANO10","number_of_transcripts_in_gene":"5","percent_of_transcripts_affected":"1.00"},"nmd":{"gene_id":"ANO10","genename":"ANO10","number_of_transcripts_in_gene":"5","percent_of_transcripts_affected":"1.00"}},"vcf":{"alt":"A","position":"43647281","ref":"C"}}