{"_id":"chr3:g.43647274G>A","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"A","anc":"G","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":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.0,"dna":{"helt":-2.33,"mgw":0.08,"prot":1.58,"roll":-0.38},"encode":{"exp":246.54,"h3k27ac":1.0,"h3k4me1":2.04,"h3k4me3":2.0,"nucleo":2.4},"exon":"2/13","fitcons":0.577621,"gc":0.37,"gene":{"ccds_id":"CCDS2710.2","cds":{"cdna_pos":242,"cds_pos":71,"rel_cdna_pos":0.08,"rel_cds_pos":0.04},"feature_id":"ENST00000292246","gene_id":"ENSG00000160746","genename":"ANO10","prot":{"protpos":24,"rel_prot_pos":0.04}},"gerp":{"n":5.98,"rs":474.3,"rs_pval":4.69619e-97,"s":5.12},"grantham":64,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":45,"min_dist_tss":16116,"mutindex":32,"naa":"V","oaa":"A","phast_cons":{"mammalian":1.0,"primate":0.996,"vertebrate":1.0},"phred":24.2,"phylop":{"mammalian":1.55,"primate":0.645,"vertebrate":3.45},"polyphen":{"cat":"benign","val":0.091},"pos":43647274,"rawscore":4.460131,"ref":"G","segway":"GE0","sift":{"cat":"deleterious","val":0.04},"type":"SNV"},"chrom":"3","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"V","codon_degeneracy":[0,0,0,0,0,0,0,0,0,0,0,0,0],"codonpos":[2,2,2,2,2,2,2,2,2,2,2,2,2],"pos":[24,24,24,24,24,24,24,24,24,24,24,24,24],"ref":"A","refcodon":["GCT","GCT","GCT","GCT","GCT","GCT","GCT","GCT","GCT","GCT","GCT","GCT","GCT"]},"alphamissense":{"pred":["B","B","B","B","B","B","B","B","B","B","B","B","B"],"rankscore":0.47349,"score":[0.121,0.2351,0.1964,0.1262,0.211,0.2395,0.2073,0.1766,0.1807,0.1781,0.1327,0.1384,0.2219]},"alt":"A","altai_neandertal":["G","G"],"ancestral_allele":"G","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.54745,"score":0.0226982},"no_af":{"pred":"T","rankscore":0.54157,"score":-0.205172}},"bstatistic":{"converted_rankscore":0.68897,"score":590.0},"chagyrskaya_neandertal":["G","G"],"chrom":"3","clinpred":{"pred":"D","rankscore":0.64211,"score":0.954213559627533},"dann":{"rankscore":0.88906,"score":0.9980417429298446},"denisova":["G","G"],"deogen2":{"pred":["T","T","T","T","T","T"],"rankscore":0.69963,"score":[0.085066,0.321538,0.32931,0.32931,0.328936,0.300431]},"eigen":{"phred_coding":3.677951,"raw_coding":0.280017375852339,"raw_coding_rankscore":0.55137},"eigen-pc":{"phred_coding":4.223584,"raw_coding":0.380575328369483,"raw_coding_rankscore":0.60367},"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"]},"esm1b":{"pred":["T","T","T","T","T"],"rankscore":0.4677,"score":[-6.047,-6.059,-5.272,-5.966,-3.932]},"fathmm":{"converted_rankscore":0.72011,"pred":["T","T","T","T","T","T"],"score":[0.18,-0.6,-0.63,0.21,0.06,-0.08]},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.70851,"coding_score":0.96771},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.65176,"coding_score":0.691929},"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":0.999991036750459},"gerp++":{"nr":5.98,"rs":5.12,"rs_rankscore":0.69459},"gmvp":{"rankscore":0.67945,"score":0.6800646483967087},"hg18":{"end":43622278,"start":43622278},"hg19":{"end":43647274,"start":43647274},"hg38":{"end":43605782,"start":43605782},"hgvsc":"c.71C>T","hgvsp":["p.A24V","p.Ala24Val"],"list-s2":{"pred":["D","D","D","D","D","D","D","D","D","D","D","D","D"],"rankscore":0.82846,"score":[0.951205,0.949505,0.943106,0.951205,0.932007,0.951205,0.933407,0.949505,0.951205,0.951205,0.955004,0.953005,0.950105]},"lrt":{"converted_rankscore":0.8433,"omega":0.0,"pred":"D","score":0.0},"m-cap":{"pred":"D","rankscore":0.56579,"score":0.035796},"metalr":{"pred":"T","rankscore":0.78461,"score":0.45},"metarnn":{"pred":["T","T","T","T","T","T","T","T","T","T","T","T","T"],"rankscore":0.46117,"score":[0.28535,0.28535,0.28535,0.28535,0.28535,0.28535,0.28535,0.28535,0.28535,0.28535,0.28535,0.28535,0.28534982]},"metasvm":{"pred":"T","rankscore":0.76359,"score":-0.25},"mpc":{"rankscore":0.13713,"score":0.121710956063},"mutationassessor":{"pred":["M","M","M","M","M"],"rankscore":0.64187,"score":[2.255,2.255,2.255,2.255,2.255]},"mutationtaster":{"aae":["A24V","A24V","A24V","A24V","A24V"],"converted_rankscore":0.41489,"model":["simple_aae","simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["D","D","N","N","N"],"score":[0.991843,0.991843,0.863875,0.863875,0.863875]},"mutformer":{"rankscore":0.37704,"score":0.00725834},"mutpred":{"aa_change":["A24V","A24V","A24V","A24V","A24V","A24V","A24V","A24V","A24V","A24V","A24V","A24V","A24V"],"accession":["Q9NW15","Q9NW15","Q9NW15","Q9NW15","Q9NW15","Q9NW15","Q9NW15","Q9NW15","Q9NW15","Q9NW15","Q9NW15","Q9NW15","Q9NW15"],"pred":[{"mechanism":"Loss of helix","p_val":0.0626},{"mechanism":"Loss of helix","p_val":0.0626},{"mechanism":"Loss of helix","p_val":0.0626},{"mechanism":"Loss of helix","p_val":0.0626},{"mechanism":"Loss of helix","p_val":0.0626},{"mechanism":"Loss of helix","p_val":0.0626},{"mechanism":"Loss of helix","p_val":0.0626},{"mechanism":"Loss of helix","p_val":0.0626},{"mechanism":"Loss of helix","p_val":0.0626},{"mechanism":"Loss of helix","p_val":0.0626},{"mechanism":"Loss of helix","p_val":0.0626},{"mechanism":"Loss of helix","p_val":0.0626},{"mechanism":"Loss of helix","p_val":0.0626}],"rankscore":0.62967,"score":[0.525,0.525,0.525,0.525,0.525,0.525,0.525,0.525,0.525,0.525,0.525,0.525,0.525]},"mvp":{"rankscore":0.78427,"score":[0.786249751643,0.786249751643,0.786249751643,0.786249751643,0.786249751643,0.786249751643,0.786249751643,0.786249751643,0.786249751643,0.786249751643,0.786249751643,0.786249751643,0.786249751643]},"phactboost":{"rankscore":0.42398,"score":0.0905402614807929},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.85391,"score":0.998},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.62096,"score":4.783},"17way_primate":{"rankscore":0.7674,"score":0.676},"470way_mammalian":{"rankscore":0.81815,"score":9.823}},"polyphen2":{"hdiv":{"pred":["D","B","B","B"],"rankscore":0.61118,"score":[0.985,0.008,0.008,0.008]},"hvar":{"pred":["P","B","B","B"],"rankscore":0.61127,"score":[0.858,0.016,0.016,0.016]}},"primateai":{"pred":"T","rankscore":0.4747,"score":0.561436712742},"provean":{"converted_rankscore":0.73788,"pred":["N","N","N","N","N","D","N","D","D","D","D","D","D"],"score":[-2.19,-1.92,-2.3,-2.19,0.55,-2.59,0.76,-2.7,-2.82,-2.82,-2.9,-3.32,-3.98]},"ref":"G","reliability_index":10,"revel":{"rankscore":0.4542,"score":[0.182,0.182,0.182,0.182,0.182,0.182,0.182,0.182,0.182,0.182,0.182,0.182,0.182]},"sift":{"converted_rankscore":0.49117,"pred":["D","T","T","D","T","T","T","D","D","D","D","D","D"],"score":[0.043,0.075,0.13,0.043,0.568,0.051,0.179,0.021,0.048,0.038,0.028,0.027,0.045]},"sift4g":{"converted_rankscore":0.92824,"pred":["T","T","D","D","T","D","D","D"],"score":[0.096,0.092,0.01,0.032,0.085,0.0,0.0,0.0]},"siphy_29way":{"logodds_rankscore":0.73299,"logodds_score":15.2583,"pi":{"a":0.0671,"c":0.0,"g":0.9329,"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"}],"varity":{"er":{"rankscore":0.43843,"score":0.19955304},"er_loo":{"rankscore":0.43842,"score":0.19955304},"r":{"rankscore":0.58883,"score":0.37405926},"r_loo":{"rankscore":0.58883,"score":0.37405926}},"vep_canonical":"YES","vest4":{"rankscore":0.64563,"score":[0.408,0.632,0.372,0.416,0.414]},"vindijia_neandertal":["G","G"]},"hg19":{"end":43647274,"start":43647274},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"2734","position":"242"},"cds":{"length":"1983","position":"71"},"effect":"missense_variant","feature_id":"NM_018075.3","feature_type":"transcript","gene_id":"ANO10","genename":"ANO10","hgvs_c":"c.71C>T","hgvs_p":"p.Ala24Val","protein":{"length":"660","position":"24"},"putative_impact":"MODERATE","rank":"2","total":"13","transcript_biotype":"protein_coding"},{"cdna":{"length":"2737","position":"242"},"cds":{"length":"1884","position":"71"},"effect":"missense_variant","feature_id":"NM_001204831.1","feature_type":"transcript","gene_id":"ANO10","genename":"ANO10","hgvs_c":"c.71C>T","hgvs_p":"p.Ala24Val","protein":{"length":"627","position":"24"},"putative_impact":"MODERATE","rank":"2","total":"13","transcript_biotype":"protein_coding"},{"cdna":{"length":"2536","position":"242"},"cds":{"length":"1785","position":"71"},"effect":"missense_variant","feature_id":"NM_001204832.1","feature_type":"transcript","gene_id":"ANO10","genename":"ANO10","hgvs_c":"c.71C>T","hgvs_p":"p.Ala24Val","protein":{"length":"594","position":"24"},"putative_impact":"MODERATE","rank":"2","total":"12","transcript_biotype":"protein_coding"},{"cdna":{"length":"2401","position":"242"},"cds":{"length":"1650","position":"71"},"effect":"missense_variant","feature_id":"NM_001204833.1","feature_type":"transcript","gene_id":"ANO10","genename":"ANO10","hgvs_c":"c.71C>T","hgvs_p":"p.Ala24Val","protein":{"length":"549","position":"24"},"putative_impact":"MODERATE","rank":"2","total":"11","transcript_biotype":"protein_coding"},{"cdna":{"length":"2164","position":"242"},"cds":{"length":"1413","position":"71"},"effect":"missense_variant","feature_id":"NM_001204834.1","feature_type":"transcript","gene_id":"ANO10","genename":"ANO10","hgvs_c":"c.71C>T","hgvs_p":"p.Ala24Val","protein":{"length":"470","position":"24"},"putative_impact":"MODERATE","rank":"2","total":"12","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"A","position":"43647274","ref":"G"}}