{"took":51,"total":537,"max_score":18.53873,"hits":[{"_id":"chr17:g.48655666C>T","_score":18.53873,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"T","anc":"C","annotype":"CodingTranscript","bstatistic":688,"chmm":{"bivflnk":0.0,"enh":0.0,"enhbiv":0.0,"het":0.0,"quies":0.315,"reprpc":0.11,"reprpcwk":0.394,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.047,"txflnk":0.0,"txwk":0.126,"znfrpts":0.0},"chrom":17,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.11,"dna":{"helt":2.21,"mgw":0.07,"prot":-3.12,"roll":0.11},"encode":{"exp":13.46,"h3k27ac":4.48,"h3k4me1":2.0,"h3k4me3":1.0,"nucleo":0.5,"occ":2,"p_val":{"comb":1.09,"ctcf":0.0,"dnas":1.8,"faire":0.0,"mycp":0.0,"polii":0.0},"sig":{"ctcf":0.03,"dnase":0.05,"faire":0.01,"myc":0.0,"polii":0.0}},"exon":"9/38","fitcons":0.625622,"gc":0.64,"gene":{"ccds_id":"CCDS45730.1","cds":{"cdna_pos":2042,"cds_pos":2042,"rel_cdna_pos":0.27,"rel_cds_pos":0.29},"feature_id":"ENST00000359106","gene_id":"ENSG00000006283","genename":"CACNA1G","prot":{"protpos":681,"rel_prot_pos":0.29}},"gerp":{"n":4.98,"rs":1123.9,"rs_pval":1.45344e-124,"s":1.29},"grantham":64,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":28168,"min_dist_tss":16845,"mutindex":-38,"naa":"V","oaa":"A","phast_cons":{"mammalian":0.001,"primate":0.011,"vertebrate":0.0},"phred":3.33,"phylop":{"mammalian":0.484,"primate":-0.142,"vertebrate":0.221},"polyphen":{"cat":"benign","val":0.001},"pos":48655666,"rawscore":0.073829,"ref":"C","segway":"TF0","sift":{"cat":"tolerated","val":0.15},"type":"SNV"},"chrom":"17","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"V","codon_degeneracy":[0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0],"codonpos":[2,2,2,2,2,2,2,2,2,2,2,2,2,2,2,2,2,2,2,2,2,2,2,2,2,2],"pos":[681,681,681,681,681,681,681,681,681,681,681,681,681,681,681,681,681,681,681,681,681,681,681,681,681,681],"ref":"A","refcodon":["GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC","GCC"]},"alphamissense":{"pred":["B","B","B","B","B","B","B","B","B","B","B","B","B","B","B","B","B","B","B","B","B","B","B","B","B","B"],"rankscore":0.12891,"score":[0.0847,0.082,0.083,0.0801,0.083,0.0843,0.0826,0.0832,0.0807,0.0853,0.0819,0.0869,0.0832,0.0857,0.0836,0.0849,0.0815,0.0814,0.0856,0.0833,0.0849,0.084,0.0888,0.0833,0.0906,0.0818]},"alt":"T","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":["alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","alternative2","principal4","alternative2"],"bayesdel":{"add_af":{"pred":"T","rankscore":0.53816,"score":0.015827},"no_af":{"pred":"T","rankscore":0.53213,"score":-0.215042}},"bstatistic":{"converted_rankscore":0.13648,"score":940.0},"cds_strand":["+","+","+","+","+","+","+","+","+","+","+","+","+","+","+","+","+","+","+","+","+","+","+","+","+","+"],"chagyrskaya_neandertal":["C","C"],"chrom":"17","clinpred":{"pred":"T","rankscore":0.1574,"score":0.133927751200279},"dann":{"rankscore":0.40947,"score":0.9838946110478801},"denisova":["C","C"],"deogen2":{"pred":["T","T"],"rankscore":0.58667,"score":[0.031484,0.222726]},"eigen":{"phred_coding":0.3582,"raw_coding":-1.04469680901888,"raw_coding_rankscore":0.07692},"eigen-pc":{"phred_coding":0.4298601,"raw_coding":-1.04960942185767,"raw_coding_rankscore":0.08715},"ensembl":{"geneid":["ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283","ENSG00000006283"],"proteinid":["ENSP00000353990","ENSP00000347078","ENSP00000339302","ENSP00000409759","ENSP00000392390","ENSP00000425522","ENSP00000426261","ENSP00000425451","ENSP00000422407","ENSP00000426814","ENSP00000427238","ENSP00000423112","ENSP00000420918","ENSP00000426172","ENSP00000423045","ENSP00000427173","ENSP00000426098","ENSP00000425698","ENSP00000426232","ENSP00000423317","ENSP00000421518","ENSP00000422268","ENSP00000423155","ENSP00000414388","ENSP00000352011","ENSP00000350979"],"transcriptid":["ENST00000360761","ENST00000354983","ENST00000352832","ENST00000442258","ENST00000416767","ENST00000502264","ENST00000512389","ENST00000513964","ENST00000514717","ENST00000510366","ENST00000503485","ENST00000507510","ENST00000507336","ENST00000513689","ENST00000507609","ENST00000510115","ENST00000515165","ENST00000514181","ENST00000515765","ENST00000514079","ENST00000507896","ENST00000505165","ENST00000515411","ENST00000429973","ENST00000359106","ENST00000358244"]},"esm1b":{"pred":["T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T"],"rankscore":0.38346,"score":[-5.141,-5.141,-5.141,-5.141,-5.141,-4.945,-4.884,-5.067,-4.884,-4.884,-4.945,-4.945,-4.884,-4.945,-5.141,-4.945,-4.945,-4.945,-4.945,-4.945,-4.945,-4.945,-4.945,-4.945,-5.142]},"eve":{"class10_pred":"U","class20_pred":"U","class25_pred":"U","class30_pred":"U","class40_pred":"U","class50_pred":"U","class60_pred":"U","class70_pred":"U","class75_pred":"U","class80_pred":"B","class90_pred":"B","rankscore":0.4728,"score":0.3780390926971924},"fathmm":{"converted_rankscore":0.96772,"pred":["D","D","D","D","D","D","D","D","D","D","D","D","D","D","D","D","D","D","D","D","D","D","D","D","D","D"],"score":[-3.98,-3.93,-3.98,-3.99,-4.14,-3.99,-4.01,-4.09,-4.06,-4.07,-4.08,-3.95,-3.95,-4.03,-3.97,-3.93,-4.0,-3.97,-3.95,-4.0,-4.01,-4.01,-3.95,-4.01,-3.95,-3.98]},"fathmm-mkl":{"coding_group":"AEFDBI","coding_pred":"N","coding_rankscore":0.15472,"coding_score":0.09798},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.31792,"coding_score":0.190697},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.45803,"score":0.59043},"h1-hesc":{"confidence_value":0,"rankscore":0.55881,"score":0.658983},"huvec":{"confidence_value":0,"rankscore":0.1498,"score":0.542086},"integrated":{"confidence_value":0,"rankscore":0.37627,"score":0.615465}},"gencode_basic":["Y","Y","Y","Y","Y","Y","Y","Y","Y","Y","Y","Y","Y","Y","Y","Y","Y","Y","Y","Y","Y","Y","Y","Y","Y","Y"],"genename":["CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G","CACNA1G"],"genocanyon":{"rankscore":0.20898,"score":0.495398523832554},"gerp":{"91_mammals":{"rankscore":0.09668,"score":-2.6}},"gerp++":{"nr":4.98,"rs":1.29,"rs_rankscore":0.20717},"gmvp":{"rankscore":0.26457,"score":0.2654469349299067},"hg18":{"end":46010665,"start":46010665},"hg19":{"end":48655666,"start":48655666},"hg38":{"end":50578305,"start":50578305},"hgvsc":"c.2042C>T","hgvsp":["p.Ala681Val","p.A681V"],"list-s2":{"pred":["T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T"],"rankscore":0.45286,"score":[0.785621,0.792121,0.792121,0.792521,0.792521,0.785621,0.791921,0.785621,0.788221,0.792521,0.785621,0.805019,0.791921,0.792521,0.805019,0.792121,0.805019,0.791921,0.791921,0.791921,0.791921,0.805019,0.805019,0.791921,0.805019,0.792121]},"lrt":{"converted_rankscore":0.01209,"omega":3.27225,"pred":"N","score":0.008533},"m-cap":{"pred":"D","rankscore":0.79545,"score":0.116072},"metalr":{"pred":"D","rankscore":0.92297,"score":0.7734},"metarnn":{"pred":["T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T"],"rankscore":0.20866,"score":[0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143732,0.11143744,0.11143744]},"metasvm":{"pred":"D","rankscore":0.8377,"score":0.078},"mpc":{"rankscore":0.07949,"score":0.0709151228016},"mutationassessor":{"pred":["N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N"],"rankscore":0.14455,"score":[0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55,0.55]},"mutationtaster":{"aae":["A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V"],"converted_rankscore":0.08975,"model":["simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N"],"score":[1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0]},"mutformer":{"rankscore":0.77576,"score":0.32197168},"mutpred":{"aa_change":["A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V","A681V"],"accession":["O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497","O43497"],"pred":[{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703},{"mechanism":"Gain of catalytic residue at A681","p_val":0.0703}],"rankscore":0.11384,"score":[0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2,0.2]},"mvp":{"rankscore":0.74391,"score":[0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468,0.746194785468]},"phactboost":{"rankscore":0.1706,"score":0.00385635688353808},"phastcons":{"100way_vertebrate":{"rankscore":0.06391,"score":0.0},"17way_primate":{"rankscore":0.08271,"score":0.008},"470way_mammalian":{"rankscore":0.08366,"score":0.0}},"phylop":{"100way_vertebrate":{"rankscore":0.25379,"score":0.707},"17way_primate":{"rankscore":0.09282,"score":-0.193},"470way_mammalian":{"rankscore":0.2061,"score":0.673}},"polyphen2":{"hdiv":{"pred":["B","B","B"],"rankscore":0.15093,"score":[0.009,0.002,0.005]},"hvar":{"pred":["B","B","B"],"rankscore":0.23361,"score":[0.038,0.009,0.017]}},"primateai":{"pred":"T","rankscore":0.20039,"score":0.364495038986},"provean":{"converted_rankscore":0.42001,"pred":["N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N","N"],"score":[-1.67,-1.77,-1.67,-1.67,-1.62,-1.67,-1.67,-1.67,-1.67,-1.67,-1.67,-1.67,-1.78,-1.67,-1.67,-1.67,-1.67,-1.67,-1.67,-1.67,-1.67,-1.67,-1.67,-1.67,-1.78,-1.67]},"ref":"C","reliability_index":10,"revel":{"rankscore":0.53644,"score":[0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234,0.234]},"sift":{"converted_rankscore":0.41364,"pred":["D","T","D","D","T","D","D","D","D","D","D","D","T","D","D","D","D","D","D","D","T","T","D","D","T","T"],"score":[0.045,0.052,0.048,0.049,0.205,0.049,0.046,0.044,0.043,0.045,0.043,0.047,0.053,0.047,0.046,0.049,0.046,0.047,0.05,0.045,0.053,0.053,0.048,0.046,0.051,0.159]},"sift4g":{"converted_rankscore":0.36233,"pred":["T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T","T"],"score":[0.224,0.13,0.218,0.219,0.202,0.118,0.227,0.224,0.222,0.224,0.222,0.127,0.134,0.125,0.23,0.122,0.227,0.226,0.126,0.229,0.228,0.228,0.13,0.226,0.135,0.228]},"siphy_29way":{"logodds_rankscore":0.27953,"logodds_score":7.731,"pi":{"a":0.0,"c":0.5918,"g":0.2496,"t":0.1586}},"tsl":[1,5,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1,1],"uniprot":[{"acc":"O43497-9","entry":"CAC1G_HUMAN"},{"acc":"O43497-33","entry":"CAC1G_HUMAN"},{"acc":"O43497-2","entry":"CAC1G_HUMAN"},{"acc":"O43497-3","entry":"CAC1G_HUMAN"},{"acc":"A0A0B4J1X2","entry":"A0A0B4J1X2_HUMAN"},{"acc":"O43497-10","entry":"CAC1G_HUMAN"},{"acc":"O43497-6","entry":"CAC1G_HUMAN"},{"acc":"O43497-26","entry":"CAC1G_HUMAN"},{"acc":"O43497-22","entry":"CAC1G_HUMAN"},{"acc":"O43497-23","entry":"CAC1G_HUMAN"},{"acc":"O43497-24","entry":"CAC1G_HUMAN"},{"acc":"O43497-12","entry":"CAC1G_HUMAN"},{"acc":"O43497-20","entry":"CAC1G_HUMAN"},{"acc":"O43497-25","entry":"CAC1G_HUMAN"},{"acc":"O43497-17","entry":"CAC1G_HUMAN"},{"acc":"O43497-8","entry":"CAC1G_HUMAN"},{"acc":"O43497-11","entry":"CAC1G_HUMAN"},{"acc":"O43497-15","entry":"CAC1G_HUMAN"},{"acc":"O43497-7","entry":"CAC1G_HUMAN"},{"acc":"O43497-21","entry":"CAC1G_HUMAN"},{"acc":"O43497-19","entry":"CAC1G_HUMAN"},{"acc":"O43497-18","entry":"CAC1G_HUMAN"},{"acc":"O43497-16","entry":"CAC1G_HUMAN"},{"acc":"O43497-13","entry":"CAC1G_HUMAN"},{"acc":"O43497","entry":"CAC1G_HUMAN"},{"acc":"O43497-5","entry":"CAC1G_HUMAN"}],"varity":{"er":{"rankscore":0.14122,"score":0.06794017},"er_loo":{"rankscore":0.14122,"score":0.06794017},"r":{"rankscore":0.07305,"score":0.045045305},"r_loo":{"rankscore":0.07305,"score":0.045045305}},"vep_canonical":"YES","vest4":{"rankscore":0.26957,"score":[0.124,0.136,0.105,0.134,0.211,0.158,0.101,0.147,0.152,0.152,0.124,0.107,0.135,0.169,0.113,0.239,0.134,0.13,0.152,0.113,0.109,0.103,0.134,0.119,0.114,0.155]},"vindijia_neandertal":["C","C"]},"hg19":{"end":48655666,"start":48655666},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"8246","position":"2434"},"cds":{"length":"7134","position":"2042"},"effect":"missense_variant","feature_id":"NM_018896.4","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2377","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"38","transcript_biotype":"protein_coding"},{"cdna":{"length":"8057","position":"2434"},"cds":{"length":"6945","position":"2042"},"effect":"missense_variant","feature_id":"NM_001256324.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2314","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"36","transcript_biotype":"protein_coding"},{"cdna":{"length":"7988","position":"2434"},"cds":{"length":"6876","position":"2042"},"effect":"missense_variant","feature_id":"NM_001256325.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2291","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"36","transcript_biotype":"protein_coding"},{"cdna":{"length":"7976","position":"2434"},"cds":{"length":"6864","position":"2042"},"effect":"missense_variant","feature_id":"NM_001256326.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2287","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"36","transcript_biotype":"protein_coding"},{"cdna":{"length":"7946","position":"2434"},"cds":{"length":"6834","position":"2042"},"effect":"missense_variant","feature_id":"NM_001256327.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2277","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"36","transcript_biotype":"protein_coding"},{"cdna":{"length":"7892","position":"2434"},"cds":{"length":"6780","position":"2042"},"effect":"missense_variant","feature_id":"NM_001256328.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2259","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"35","transcript_biotype":"protein_coding"},{"cdna":{"length":"7865","position":"2434"},"cds":{"length":"6753","position":"2042"},"effect":"missense_variant","feature_id":"NM_001256329.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2250","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"36","transcript_biotype":"protein_coding"},{"cdna":{"length":"7832","position":"2434"},"cds":{"length":"6720","position":"2042"},"effect":"missense_variant","feature_id":"NM_001256330.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2239","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"35","transcript_biotype":"protein_coding"},{"cdna":{"length":"7811","position":"2434"},"cds":{"length":"6699","position":"2042"},"effect":"missense_variant","feature_id":"NM_001256331.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2232","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"35","transcript_biotype":"protein_coding"},{"cdna":{"length":"7796","position":"2434"},"cds":{"length":"6684","position":"2042"},"effect":"missense_variant","feature_id":"NM_001256332.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2227","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"35","transcript_biotype":"protein_coding"},{"cdna":{"length":"7730","position":"2434"},"cds":{"length":"6618","position":"2042"},"effect":"missense_variant","feature_id":"NM_001256333.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2205","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"37","transcript_biotype":"protein_coding"},{"cdna":{"length":"7697","position":"2434"},"cds":{"length":"6585","position":"2042"},"effect":"missense_variant","feature_id":"NM_001256334.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2194","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"36","transcript_biotype":"protein_coding"},{"cdna":{"length":"7886","position":"2434"},"cds":{"length":"6774","position":"2042"},"effect":"missense_variant","feature_id":"NM_001256359.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2257","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"36","transcript_biotype":"protein_coding"},{"cdna":{"length":"7859","position":"2434"},"cds":{"length":"6747","position":"2042"},"effect":"missense_variant","feature_id":"NM_001256360.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2248","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"35","transcript_biotype":"protein_coding"},{"cdna":{"length":"7853","position":"2434"},"cds":{"length":"6741","position":"2042"},"effect":"missense_variant","feature_id":"NM_001256361.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2246","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"35","transcript_biotype":"protein_coding"},{"cdna":{"length":"7628","position":"2434"},"cds":{"length":"6516","position":"2042"},"effect":"missense_variant","feature_id":"NM_198376.2","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2171","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"35","transcript_biotype":"protein_coding"},{"cdna":{"length":"8213","position":"2434"},"cds":{"length":"7101","position":"2042"},"effect":"missense_variant","feature_id":"NM_198377.2","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2366","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"37","transcript_biotype":"protein_coding"},{"cdna":{"length":"7934","position":"2434"},"cds":{"length":"6822","position":"2042"},"effect":"missense_variant","feature_id":"NM_198378.2","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2273","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"35","transcript_biotype":"protein_coding"},{"cdna":{"length":"8009","position":"2434"},"cds":{"length":"6897","position":"2042"},"effect":"missense_variant","feature_id":"NM_198379.2","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2298","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"35","transcript_biotype":"protein_coding"},{"cdna":{"length":"8078","position":"2434"},"cds":{"length":"6966","position":"2042"},"effect":"missense_variant","feature_id":"NM_198380.2","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2321","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"36","transcript_biotype":"protein_coding"},{"cdna":{"length":"7898","position":"2434"},"cds":{"length":"6786","position":"2042"},"effect":"missense_variant","feature_id":"NM_198382.2","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2261","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"35","transcript_biotype":"protein_coding"},{"cdna":{"length":"8033","position":"2434"},"cds":{"length":"6921","position":"2042"},"effect":"missense_variant","feature_id":"NM_198383.2","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2306","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"36","transcript_biotype":"protein_coding"},{"cdna":{"length":"7967","position":"2434"},"cds":{"length":"6855","position":"2042"},"effect":"missense_variant","feature_id":"NM_198384.2","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2284","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"36","transcript_biotype":"protein_coding"},{"cdna":{"length":"8111","position":"2434"},"cds":{"length":"6999","position":"2042"},"effect":"missense_variant","feature_id":"NM_198385.2","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2332","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"37","transcript_biotype":"protein_coding"},{"cdna":{"length":"7913","position":"2434"},"cds":{"length":"6801","position":"2042"},"effect":"missense_variant","feature_id":"NM_198386.2","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2266","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"35","transcript_biotype":"protein_coding"},{"cdna":{"length":"7865","position":"2434"},"cds":{"length":"6753","position":"2042"},"effect":"missense_variant","feature_id":"NM_198387.2","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2250","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"34","transcript_biotype":"protein_coding"},{"cdna":{"length":"7844","position":"2434"},"cds":{"length":"6732","position":"2042"},"effect":"missense_variant","feature_id":"NM_198388.2","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2243","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"34","transcript_biotype":"protein_coding"},{"cdna":{"length":"8144","position":"2434"},"cds":{"length":"7032","position":"2042"},"effect":"missense_variant","feature_id":"NM_198396.2","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2343","position":"681"},"putative_impact":"MODERATE","rank":"9","total":"36","transcript_biotype":"protein_coding"},{"effect":"non_coding_transcript_exon_variant","feature_id":"NR_046054.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"n.2434C>T","putative_impact":"MODIFIER","rank":"9","total":"36","transcript_biotype":"pseudogene"},{"effect":"non_coding_transcript_exon_variant","feature_id":"NR_046055.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"n.2434C>T","putative_impact":"MODIFIER","rank":"9","total":"35","transcript_biotype":"pseudogene"},{"effect":"non_coding_transcript_exon_variant","feature_id":"NR_046056.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"n.2434C>T","putative_impact":"MODIFIER","rank":"9","total":"35","transcript_biotype":"pseudogene"},{"effect":"non_coding_transcript_exon_variant","feature_id":"NR_046057.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"n.2434C>T","putative_impact":"MODIFIER","rank":"9","total":"35","transcript_biotype":"pseudogene"},{"effect":"non_coding_transcript_exon_variant","feature_id":"NR_046058.1","feature_type":"transcript","gene_id":"CACNA1G","genename":"CACNA1G","hgvs_c":"n.2434C>T","putative_impact":"MODIFIER","rank":"9","total":"34","transcript_biotype":"pseudogene"}]},"vcf":{"alt":"T","position":"48655666","ref":"C"}},{"_id":"chr6:g.7230374C>T","_score":18.241978,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"T","anc":"C","annotype":"CodingTranscript","bstatistic":716,"chmm":{"bivflnk":0.0,"enh":0.0,"enhbiv":0.0,"het":0.0,"quies":0.039,"reprpc":0.0,"reprpcwk":0.0,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.787,"txflnk":0.0,"txwk":0.157,"znfrpts":0.016},"chrom":6,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.19,"dna":{"helt":2.24,"mgw":0.07,"prot":-3.12,"roll":0.13},"encode":{"exp":159.79,"h3k27ac":3.0,"h3k4me3":2.0,"nucleo":1.7,"occ":2,"p_val":{"comb":1.44,"ctcf":0.0,"dnas":2.23,"faire":0.0,"mycp":0.0,"polii":2.26},"sig":{"ctcf":0.02,"dnase":0.05,"faire":0.01,"myc":0.01,"polii":0.04}},"exon":"10/13","fitcons":0.671935,"gc":0.64,"gene":{"ccds_id":"CCDS34335.1","cds":{"cdna_pos":2579,"cds_pos":2042,"rel_cdna_pos":0.29,"rel_cds_pos":0.39},"feature_id":"ENST00000379938","gene_id":"ENSG00000124782","genename":"RREB1","prot":{"domain":"ndomain","protpos":681,"rel_prot_pos":0.39}},"gerp":{"n":5.27,"rs":5185.8,"rs_pval":0,"s":5.27},"grantham":64,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":293,"min_dist_tss":90896,"mutindex":-26,"naa":"V","oaa":"A","phast_cons":{"mammalian":0.999,"primate":0.918,"vertebrate":1.0},"phred":25.2,"phylop":{"mammalian":2.732,"primate":0.651,"vertebrate":6.021},"polyphen":{"cat":"probably_damaging","val":0.994},"pos":7230374,"rawscore":5.060904,"ref":"C","segway":"GE2","sift":{"cat":"tolerated","val":0.07},"type":"SNV"},"chrom":"6","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"V","codon_degeneracy":[0,0,0,0,0],"codonpos":[2,2,2,2,2],"pos":[681,681,681,681,681],"ref":"A","refcodon":["GCC","GCC","GCC","GCC","GCC"]},"alphamissense":{"pred":["P","P","P","P","P"],"rankscore":0.78466,"score":[0.7687,0.6426,0.8247,0.7495,0.7986]},"alt":"T","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.52208,"score":0.00402209},"no_af":{"pred":"T","rankscore":0.51579,"score":-0.231999}},"bstatistic":{"converted_rankscore":0.5597,"score":716.0},"cds_strand":["+","+","+","+","+"],"chagyrskaya_neandertal":["C","C"],"chrom":"6","clinpred":{"pred":"D","rankscore":0.49581,"score":0.843083560466766},"dann":{"rankscore":0.97801,"score":0.999077009034441},"denisova":["C","C"],"deogen2":{"pred":["T","T","T"],"rankscore":0.25379,"score":[0.039991,0.039991,0.037747]},"eigen":{"phred_coding":5.496186,"raw_coding":0.555236597485374,"raw_coding_rankscore":0.70402},"eigen-pc":{"phred_coding":6.336126,"raw_coding":0.608860246269447,"raw_coding_rankscore":0.75581},"ensembl":{"geneid":["ENSG00000124782","ENSG00000124782","ENSG00000124782","ENSG00000124782","ENSG00000124782"],"proteinid":["ENSP00000369265","ENSP00000369270","ENSP00000335574","ENSP00000305560","ENSP00000419511"],"transcriptid":["ENST00000379933","ENST00000379938","ENST00000334984","ENST00000349384","ENST00000483150"]},"esm1b":{"pred":["D","D","D","D"],"rankscore":0.87278,"score":[-12.098,-12.501,-12.517,-12.098]},"fathmm":{"converted_rankscore":0.28002,"pred":["T","T","T","T","T"],"score":[1.63,1.63,1.63,1.63,1.63]},"fathmm-mkl":{"coding_group":"AEFDBCI","coding_pred":"D","coding_rankscore":0.71098,"coding_score":0.96817},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.77212,"coding_score":0.855042},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.74545,"score":0.702456},"h1-hesc":{"confidence_value":0,"rankscore":0.80598,"score":0.723109},"huvec":{"confidence_value":0,"rankscore":0.53088,"score":0.635551},"integrated":{"confidence_value":0,"rankscore":0.52595,"score":0.67177}},"gencode_basic":["Y","Y","Y","Y"],"genename":["RREB1","RREB1","RREB1","RREB1","RREB1"],"genocanyon":{"rankscore":0.74766,"score":0.999999999999969},"gerp":{"91_mammals":{"rankscore":0.99466,"score":6.48}},"gerp++":{"nr":5.27,"rs":5.27,"rs_rankscore":0.73797},"gmvp":{"rankscore":0.44015,"score":0.4409879224447288},"hg18":{"end":7175373,"start":7175373},"hg19":{"end":7230374,"start":7230374},"hg38":{"end":7230141,"start":7230141},"hgvsc":"c.2042C>T","hgvsp":["p.Ala681Val","p.A681V"],"interpro":{"domain":["Zinc finger C2H2-type|Zinc finger C2H2-type","Zinc finger C2H2-type|Zinc finger C2H2-type","Zinc finger C2H2-type|Zinc finger C2H2-type"]},"list-s2":{"pred":["D","D","D","D"],"rankscore":0.59551,"score":[0.858514,0.865313,0.858514,0.879412]},"lrt":{"converted_rankscore":0.62929,"omega":0.0,"pred":"D","score":0.000012},"m-cap":{"pred":"T","rankscore":0.26346,"score":0.010146},"metalr":{"pred":"T","rankscore":0.29897,"score":0.0741},"metarnn":{"pred":["T","T","T","T","T"],"rankscore":0.56012,"score":[0.40777433,0.40777433,0.40777433,0.40777433,0.40777433]},"metasvm":{"pred":"T","rankscore":0.10807,"score":-1.0639},"mpc":{"rankscore":0.7589,"score":1.04389256114},"mutationassessor":{"pred":["N","N","N","N"],"rankscore":0.09099,"score":[0.185,0.185,0.185,0.185]},"mutationtaster":{"aae":["A681V","A681V","A681V","A681V"],"converted_rankscore":0.50806,"model":["simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["D","D","D","D"],"score":[0.999908,0.999908,0.999908,0.999908]},"mutformer":{"rankscore":0.89658,"score":0.84915805},"mutpred":{"aa_change":["A681V","A681V","A681V","A681V","A681V"],"accession":["Q92766","Q92766","Q92766","Q92766","Q92766"],"pred":[{"mechanism":"Gain of methylation at K683","p_val":0.1136},{"mechanism":"Gain of methylation at K683","p_val":0.1136},{"mechanism":"Gain of methylation at K683","p_val":0.1136},{"mechanism":"Gain of methylation at K683","p_val":0.1136},{"mechanism":"Gain of methylation at K683","p_val":0.1136}],"rankscore":0.49975,"score":[0.443,0.443,0.443,0.443,0.443]},"mvp":{"rankscore":0.40337,"score":[0.407223025684,0.407223025684,0.407223025684,0.407223025684,0.407223025684]},"phactboost":{"rankscore":0.62453,"score":[0.556163611875861,0.556163611875861]},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.36,"score":0.756},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.67534,"score":5.638},"17way_primate":{"rankscore":0.33519,"score":0.596},"470way_mammalian":{"rankscore":0.64126,"score":7.659}},"polyphen2":{"hdiv":{"pred":["D","D","D","D"],"rankscore":0.77913,"score":[0.999,0.993,0.999,0.999]},"hvar":{"pred":["D","D","D","D"],"rankscore":0.86255,"score":[0.997,0.91,0.995,0.997]}},"primateai":{"pred":"T","rankscore":0.81889,"score":0.799515724182},"provean":{"converted_rankscore":0.46673,"pred":["N","N","N","N","N"],"score":[-1.97,-2.03,-1.97,-1.97,-1.97]},"ref":"C","reliability_index":10,"revel":{"rankscore":0.53354,"score":[0.232,0.232,0.232,0.232,0.232]},"sift":{"converted_rankscore":0.5553,"pred":["D","D","D","D","D"],"score":[0.02,0.02,0.011,0.02,0.029]},"sift4g":{"converted_rankscore":0.3378,"pred":["T","T","T","T","T"],"score":[0.138,0.144,0.139,0.138,0.221]},"siphy_29way":{"logodds_rankscore":0.93243,"logodds_score":19.0978,"pi":{"a":0.0,"c":1.0,"g":0.0,"t":0.0}},"tsl":[1,1,1,1,1],"uniprot":[{"acc":"Q92766","entry":"RREB1_HUMAN"},{"acc":"Q92766-2","entry":"RREB1_HUMAN"},{"acc":"Q92766-3","entry":"RREB1_HUMAN"},{"acc":"Q92766","entry":"RREB1_HUMAN"},{"acc":"C9JU34","entry":"C9JU34_HUMAN"}],"varity":{"er":{"rankscore":0.39268,"score":[0.17109884,0.17109884]},"er_loo":{"rankscore":0.39267,"score":[0.17109884,0.17109884]},"r":{"rankscore":0.43371,"score":[0.21067482,0.21067482]},"r_loo":{"rankscore":0.43371,"score":[0.21067482,0.21067482]}},"vep_canonical":"YES","vest4":{"rankscore":0.59648,"score":[0.574,0.573,0.574,0.568]},"vindijia_neandertal":["C","C"]},"hg19":{"end":7230374,"start":7230374},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"8733","position":"2534"},"cds":{"length":"5229","position":"2042"},"effect":"missense_variant","feature_id":"NM_001003699.3","feature_type":"transcript","gene_id":"RREB1","genename":"RREB1","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"1742","position":"681"},"putative_impact":"MODERATE","rank":"10","total":"13","transcript_biotype":"protein_coding"},{"cdna":{"length":"8532","position":"2498"},"cds":{"length":"5064","position":"2042"},"effect":"missense_variant","feature_id":"NM_001168344.1","feature_type":"transcript","gene_id":"RREB1","genename":"RREB1","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"1687","position":"681"},"putative_impact":"MODERATE","rank":"10","total":"12","transcript_biotype":"protein_coding"},{"cdna":{"length":"8568","position":"2534"},"cds":{"length":"5064","position":"2042"},"effect":"missense_variant","feature_id":"NM_001003698.3","feature_type":"transcript","gene_id":"RREB1","genename":"RREB1","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"1687","position":"681"},"putative_impact":"MODERATE","rank":"10","total":"12","transcript_biotype":"protein_coding"},{"cdna":{"length":"7935","position":"2534"},"cds":{"length":"4431","position":"2042"},"effect":"missense_variant","feature_id":"NM_001003700.1","feature_type":"transcript","gene_id":"RREB1","genename":"RREB1","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"1476","position":"681"},"putative_impact":"MODERATE","rank":"10","total":"12","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"T","position":"7230374","ref":"C"}},{"_id":"chr1:g.203681098C>T","_score":17.968203,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"T","anc":"C","annotype":"CodingTranscript","bstatistic":622,"chmm":{"bivflnk":0.0,"enh":0.016,"enhbiv":0.0,"het":0.0,"quies":0.024,"reprpc":0.0,"reprpcwk":0.0,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.78,"txflnk":0.0,"txwk":0.181,"znfrpts":0.0},"chrom":1,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.03,"dna":{"helt":2.08,"mgw":0.35,"prot":-2.34,"roll":0.24},"dst2splice":11,"dst2spltype":"ACCEPTOR","encode":{"exp":731.55,"h3k27ac":7.36,"h3k4me1":5.72,"h3k4me3":3.0,"nucleo":2.1},"exon":"13/21","fitcons":0.701516,"gc":0.52,"gene":{"ccds_id":"CCDS1440.1","cds":{"cdna_pos":3165,"cds_pos":2042,"rel_cdna_pos":0.35,"rel_cds_pos":0.56},"feature_id":"ENST00000357681","gene_id":"ENSG00000058668","genename":"ATP2B4","prot":{"domain":"ndomain","protpos":681,"rel_prot_pos":0.57}},"gerp":{"n":5.75,"rs":615.5,"rs_pval":7.31244e-105,"s":5.75},"grantham":64,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":28350,"min_dist_tss":29161,"mutindex":6,"naa":"V","oaa":"A","phast_cons":{"mammalian":0.853,"primate":0.65,"vertebrate":1.0},"phred":33,"phylop":{"mammalian":2.705,"primate":0.645,"vertebrate":6.122},"polyphen":{"cat":"possibly_damaging","val":0.702},"pos":203681098,"rawscore":6.827819,"ref":"C","segway":"R5","sift":{"cat":"deleterious","val":0},"type":"SNV"},"chrom":"1","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"V","codon_degeneracy":[0,0,0],"codonpos":[2,2,2],"pos":[681,681,681],"ref":"A","refcodon":["GCT","GCT","GCT"]},"alphamissense":{"pred":["P","P"],"rankscore":0.89389,"score":[0.9698,0.9682]},"alt":"T","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":["principal3","alternative2","alternative2"],"bayesdel":{"add_af":{"pred":"D","rankscore":0.90407,"score":0.40866},"no_af":{"pred":"D","rankscore":0.90287,"score":0.349236}},"bstatistic":{"converted_rankscore":0.68232,"score":598.0},"cds_strand":["+","+","+"],"chagyrskaya_neandertal":["C","C"],"chrom":"1","clinpred":{"pred":"D","rankscore":0.80634,"score":0.990419108888617},"dann":{"rankscore":0.97949,"score":0.999093591987586},"denisova":["C","C"],"eigen":{"phred_coding":13.15109,"raw_coding":0.974880281587584,"raw_coding_rankscore":0.94919},"eigen-pc":{"phred_coding":12.64638,"raw_coding":0.873077787345221,"raw_coding_rankscore":0.94289},"ensembl":{"geneid":["ENSG00000058668","ENSG00000058668","ENSG00000058668"],"proteinid":["ENSP00000350310","ENSP00000356187","ENSP00000340930"],"transcriptid":["ENST00000357681","ENST00000367218","ENST00000341360"]},"esm1b":{"pred":["D","D","D"],"rankscore":0.91402,"score":[-13.428,-13.523,-13.523]},"fathmm":{"converted_rankscore":0.96826,"pred":["D","D","D"],"score":[-4.16,-4.16,-4.16]},"fathmm-mkl":{"coding_group":"AEFGBI","coding_pred":"D","coding_rankscore":0.93605,"coding_score":0.99261},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.84392,"coding_score":0.899487},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.40923,"score":0.588066},"h1-hesc":{"confidence_value":0,"rankscore":0.87919,"score":0.724815},"huvec":{"confidence_value":0,"rankscore":0.83352,"score":0.714379},"integrated":{"confidence_value":0,"rankscore":0.73137,"score":0.706548}},"gencode_basic":["Y","Y","Y"],"genename":["ATP2B4","ATP2B4","ATP2B4"],"genocanyon":{"rankscore":0.74766,"score":0.999999999999991},"gerp":{"91_mammals":{"rankscore":0.74921,"score":3.94}},"gerp++":{"nr":5.75,"rs":5.75,"rs_rankscore":0.9039},"gmvp":{"rankscore":0.95373,"score":0.9538963255382209},"hg18":{"end":201947721,"start":201947721},"hg19":{"end":203681098,"start":203681098},"hg38":{"end":203711970,"start":203711970},"hgvsc":"c.2042C>T","hgvsp":["p.Ala681Val","p.A681V"],"list-s2":{"pred":["D","D"],"rankscore":0.93529,"score":[0.981169,0.981169]},"lrt":{"converted_rankscore":0.53742,"omega":0.0,"pred":"D","score":0.000061},"m-cap":{"pred":"D","rankscore":0.93643,"score":0.413278},"metalr":{"pred":"D","rankscore":0.98773,"score":0.9618},"metarnn":{"pred":["D","D","D"],"rankscore":0.95369,"score":[0.95973384,0.95973384,0.95973384]},"metasvm":{"pred":"D","rankscore":0.9932,"score":1.092},"mpc":{"rankscore":0.74478,"score":1.00305853551},"mutationassessor":{"pred":["M","M","M"],"rankscore":0.82106,"score":[2.82,2.82,2.82]},"mutationtaster":{"aae":["A681V","A681V","A681V","A669V","A681V"],"converted_rankscore":0.81001,"model":["simple_aae","simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["D","D","D","D","D"],"score":[1.0,1.0,1.0,1.0,1.0]},"mutformer":{"rankscore":0.42875,"score":0.01127938},"mutpred":{"aa_change":["A681V","A681V","A681V"],"accession":["P23634","P23634","P23634"],"pred":[{"mechanism":"Loss of ubiquitination at K684","p_val":0.2139},{"mechanism":"Loss of ubiquitination at K684","p_val":0.2139},{"mechanism":"Loss of ubiquitination at K684","p_val":0.2139}],"rankscore":0.91438,"score":[0.793,0.793,0.793]},"mvp":{"rankscore":0.84409,"score":[0.845573266624,0.845573266624,0.845573266624]},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.37819,"score":0.802},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.84963,"score":7.834},"17way_primate":{"rankscore":0.4025,"score":0.599},"470way_mammalian":{"rankscore":0.64943,"score":7.674}},"polyphen2":{"hdiv":{"pred":"D","rankscore":0.90584,"score":1.0},"hvar":{"pred":"D","rankscore":0.92359,"score":0.999}},"primateai":{"pred":"T","rankscore":0.62819,"score":0.669868707657},"provean":{"converted_rankscore":0.69477,"pred":["D","D","D"],"score":[-3.61,-3.61,-3.61]},"ref":"C","reliability_index":10,"revel":{"rankscore":0.96985,"score":[0.894,0.894,0.894]},"sift":{"converted_rankscore":0.91255,"pred":["D","D","D"],"score":[0.0,0.0,0.0]},"sift4g":{"converted_rankscore":0.83351,"pred":["D","D","D"],"score":[0.001,0.001,0.001]},"siphy_29way":{"logodds_rankscore":0.95316,"logodds_score":19.5515,"pi":{"a":0.0,"c":1.0,"g":0.0,"t":0.0}},"tsl":[1,1,1],"uniprot":[{"acc":"P23634-6","entry":"AT2B4_HUMAN"},{"acc":"P23634-2","entry":"AT2B4_HUMAN"},{"acc":"P23634-2","entry":"AT2B4_HUMAN"}],"vep_canonical":"YES","vest4":{"rankscore":0.87808,"score":[0.807,0.88,0.88]},"vindijia_neandertal":["C","C"]},"hg19":{"end":203681098,"start":203681098},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"8742","position":"2939"},"cds":{"length":"3618","position":"2042"},"effect":"missense_variant","feature_id":"NM_001684.4","feature_type":"transcript","gene_id":"ATP2B4","genename":"ATP2B4","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"1205","position":"681"},"putative_impact":"MODERATE","rank":"13","total":"21","transcript_biotype":"protein_coding"},{"cdna":{"length":"8920","position":"2939"},"cds":{"length":"3513","position":"2042"},"effect":"missense_variant","feature_id":"NM_001001396.2","feature_type":"transcript","gene_id":"ATP2B4","genename":"ATP2B4","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"1170","position":"681"},"putative_impact":"MODERATE","rank":"13","total":"22","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"T","position":"203681098","ref":"C"}},{"_id":"chr5:g.79734546C>T","_score":17.892746,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"T","anc":"C","annotype":"CodingTranscript","bstatistic":419,"chmm":{"bivflnk":0.0,"enh":0.008,"enhbiv":0.0,"het":0.0,"quies":0.024,"reprpc":0.0,"reprpcwk":0.0,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.354,"txflnk":0.0,"txwk":0.606,"znfrpts":0.0},"chrom":5,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.01,"dna":{"helt":0.98,"mgw":0.15,"prot":-2.11,"roll":0.25},"encode":{"exp":89.03,"h3k27ac":6.32,"h3k4me1":7.0,"h3k4me3":3.0,"nucleo":2.4},"exon":"3/18","fitcons":0.701516,"gc":0.41,"gene":{"ccds_id":"CCDS4050.1","cds":{"cdna_pos":2222,"cds_pos":2042,"rel_cdna_pos":0.33,"rel_cds_pos":0.44},"feature_id":"ENST00000338008","gene_id":"ENSG00000039319","genename":"ZFYVE16","prot":{"domain":"ndomain","protpos":681,"rel_prot_pos":0.44}},"gerp":{"n":5.68,"rs":3498,"rs_pval":2.3604e-306,"s":1.93},"grantham":64,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":1650,"min_dist_tss":30644,"mutindex":10,"naa":"V","oaa":"A","phast_cons":{"mammalian":0.002,"primate":0.082,"vertebrate":0.008},"phred":3.713,"phylop":{"mammalian":0.335,"primate":0.645,"vertebrate":0.725},"polyphen":{"cat":"benign","val":0.024},"pos":79734546,"rawscore":0.109775,"ref":"C","segway":"TF2","sift":{"cat":"tolerated","val":0.15},"type":"SNV"},"chrom":"5","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"V","codon_degeneracy":[0,0,0],"codonpos":[2,2,2],"pos":[681,681,681],"ref":"A","refcodon":["GCA","GCA","GCA"]},"alfa":{"african":{"ac":0,"af":0.0,"an":20},"african_american":{"ac":0,"af":0.0,"an":20},"african_others":{"ac":0,"af":0.0,"an":0},"asian":{"ac":0,"af":0.0,"an":0},"east_asian":{"ac":0,"af":0.0,"an":0},"european":{"ac":1,"af":0.00005918560606060606,"an":16896},"latin_american_1":{"ac":0,"af":0.0,"an":354},"latin_american_2":{"ac":0,"af":0.0,"an":18},"other":{"ac":0,"af":0.0,"an":4092},"other_asian":{"ac":0,"af":0.0,"an":0},"south_asian":{"ac":0,"af":0.0,"an":0},"total":{"ac":1,"af":0.00004677268475210477,"an":21380}},"alphamissense":{"pred":["B","B"],"rankscore":0.15698,"score":[0.0915,0.0967]},"alt":"T","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":["principal1","principal1","principal1"],"bayesdel":{"add_af":{"pred":"T","rankscore":0.06013,"score":-0.331313},"no_af":{"pred":"T","rankscore":0.05108,"score":-0.713684}},"bstatistic":{"converted_rankscore":0.31118,"score":872.0},"cds_strand":["+","+","+"],"chagyrskaya_neandertal":["C","C"],"chrom":"5","clinpred":{"pred":"T","rankscore":0.07673,"score":0.0632761221948948},"dann":{"rankscore":0.2595,"score":0.9499492499652734},"denisova":["C","C"],"deogen2":{"pred":["T","T","T"],"rankscore":0.05517,"score":[0.006085,0.006085,0.006085]},"eigen":{"phred_coding":0.5706227,"raw_coding":-0.860841661348949,"raw_coding_rankscore":0.11784},"eigen-pc":{"phred_coding":0.6772577,"raw_coding":-0.85814898600532,"raw_coding_rankscore":0.13092},"ensembl":{"geneid":["ENSG00000039319","ENSG00000039319","ENSG00000039319"],"proteinid":["ENSP00000337159","ENSP00000423663","ENSP00000426848"],"transcriptid":["ENST00000338008","ENST00000510158","ENST00000505560"]},"esm1b":{"pred":["T","T","T"],"rankscore":0.11342,"score":[-3.104,-3.104,-3.104]},"eve":{"class10_pred":["U","U","U"],"class20_pred":["U","U","U"],"class25_pred":["U","U","U"],"class30_pred":["U","U","U"],"class40_pred":["U","U","U"],"class50_pred":["B","B","B"],"class60_pred":["B","B","B"],"class70_pred":["B","B","B"],"class75_pred":["B","B","B"],"class80_pred":["B","B","B"],"class90_pred":["B","B","B"],"rankscore":0.30059,"score":[0.2227572554712999,0.2227572554712999,0.2227572554712999]},"fathmm":{"converted_rankscore":0.38718,"pred":["T","T","T"],"score":[1.12,1.12,1.12]},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"N","coding_rankscore":0.20067,"coding_score":0.17975},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.17491,"coding_score":0.086275},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.12157,"score":0.546412},"h1-hesc":{"confidence_value":0,"rankscore":0.19136,"score":0.566861},"huvec":{"confidence_value":0,"rankscore":0.83352,"score":0.714379},"integrated":{"confidence_value":0,"rankscore":0.73137,"score":0.706548}},"gencode_basic":["Y","Y","Y"],"genename":["ZFYVE16","ZFYVE16","ZFYVE16"],"genocanyon":{"rankscore":0.17392,"score":0.14800201909103},"gerp":{"91_mammals":{"rankscore":0.33564,"score":1.45}},"gerp++":{"nr":5.68,"rs":1.93,"rs_rankscore":0.24985},"gmvp":{"rankscore":0.16633,"score":0.1671320909087679},"hg18":{"end":79770302,"start":79770302},"hg19":{"end":79734546,"start":79734546},"hg38":{"end":80438727,"start":80438727},"hgvsc":"c.2042C>T","hgvsp":["p.Ala681Val","p.A681V"],"list-s2":{"pred":"T","rankscore":0.31558,"score":0.70513},"lrt":{"converted_rankscore":0.11305,"omega":0.782162,"pred":"N","score":0.564186},"m-cap":{"pred":"T","rankscore":0.2529,"score":0.009679},"metalr":{"pred":"T","rankscore":0.25887,"score":0.0622},"metarnn":{"pred":["T","T","T"],"rankscore":0.13803,"score":[0.08316031,0.08316031,0.08316031]},"metasvm":{"pred":"T","rankscore":0.21396,"score":-1.0271},"mpc":{"rankscore":0.05203,"score":0.0476748777111},"mutationassessor":{"pred":["L","L","L"],"rankscore":0.42885,"score":[1.67,1.67,1.67]},"mutationtaster":{"aae":["A681V","A681V","A681V"],"converted_rankscore":0.08975,"model":["simple_aae","simple_aae","simple_aae"],"pred":["N","N","N"],"score":[1.0,1.0,1.0]},"mutformer":{"rankscore":0.59199,"score":0.0481146},"mutpred":{"aa_change":["A681V","A681V","A681V"],"accession":["Q7Z3T8","Q7Z3T8","Q7Z3T8"],"pred":[{"mechanism":"Loss of helix","p_val":0.0558},{"mechanism":"Loss of helix","p_val":0.0558},{"mechanism":"Loss of helix","p_val":0.0558}],"rankscore":0.02647,"score":[0.119,0.119,0.119]},"mvp":{"rankscore":0.35482,"score":[0.358744678677,0.358744678677,0.358744678677]},"phactboost":{"rankscore":0.20386,"score":[0.00623266840272924,0.00623266840272924,0.00623266840272924]},"phastcons":{"100way_vertebrate":{"rankscore":0.06391,"score":0.0},"17way_primate":{"rankscore":0.12703,"score":0.027},"470way_mammalian":{"rankscore":0.17328,"score":0.001}},"phylop":{"100way_vertebrate":{"rankscore":0.10369,"score":-0.137},"17way_primate":{"rankscore":0.4025,"score":0.599},"470way_mammalian":{"rankscore":0.12872,"score":-0.025}},"polyphen2":{"hdiv":{"pred":["B","B","B"],"rankscore":0.07471,"score":[0.001,0.001,0.001]},"hvar":{"pred":["B","B","B"],"rankscore":0.1009,"score":[0.004,0.004,0.004]}},"primateai":{"pred":"T","rankscore":0.07688,"score":0.281397134066},"provean":{"converted_rankscore":0.3259,"pred":["N","N","N"],"score":[-1.3,-1.3,-1.3]},"ref":"C","reliability_index":10,"revel":{"rankscore":0.04979,"score":[0.024,0.024,0.024]},"rsid":"rs1750298583","sift":{"converted_rankscore":0.17881,"pred":["T","T","T"],"score":[0.237,0.237,0.237]},"sift4g":{"converted_rankscore":0.23029,"pred":["T","T","T"],"score":[0.26,0.26,0.26]},"siphy_29way":{"logodds_rankscore":0.15106,"logodds_score":5.3048,"pi":{"a":0.0,"c":0.5299,"g":0.1451,"t":0.325}},"tsl":[1,1,1],"uniprot":[{"acc":"Q7Z3T8","entry":"ZFY16_HUMAN"},{"acc":"Q7Z3T8","entry":"ZFY16_HUMAN"},{"acc":"Q7Z3T8","entry":"ZFY16_HUMAN"}],"varity":{"er":{"rankscore":0.04898,"score":[0.041990504,0.041990504,0.041990504]},"er_loo":{"rankscore":0.04897,"score":[0.041990504,0.041990504,0.041990504]},"r":{"rankscore":0.02049,"score":[0.027908115,0.027908115,0.027908115]},"r_loo":{"rankscore":0.02048,"score":[0.027908115,0.027908115,0.027908115]}},"vep_canonical":"YES","vest4":{"rankscore":0.02658,"score":[0.043,0.049,0.055]},"vindijia_neandertal":["C","C"]},"dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"C","freq":{"dbgap_popfreq":1.0}},{"allele":"T","freq":{"dbgap_popfreq":0.0}}],"alt":"T","chrom":"5","dbsnp_build":156,"gene":{"geneid":9765,"is_pseudo":false,"name":"zinc finger FYVE-type containing 16","rnas":[{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":2297,"seq_id":"NM_001105251.4"},"hgvs":"NM_001105251.4:c.2042=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":680,"seq_id":"NP_001098721.2"}}},"protein_product":{"refseq":"NP_001098721.2"},"refseq":"NM_001105251.4","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":2223,"seq_id":"NM_001284236.3"},"hgvs":"NM_001284236.3:c.2042=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":680,"seq_id":"NP_001271165.2"}}},"protein_product":{"refseq":"NP_001271165.2"},"refseq":"NM_001284236.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":2169,"seq_id":"NM_001284237.2"},"hgvs":"NM_001284237.2:c.2042=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":680,"seq_id":"NP_001271166.2"}}},"protein_product":{"refseq":"NP_001271166.2"},"refseq":"NM_001284237.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":2219,"seq_id":"NM_001349434.2"},"hgvs":"NM_001349434.2:c.2042=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":680,"seq_id":"NP_001336363.2"}}},"protein_product":{"refseq":"NP_001336363.2"},"refseq":"NM_001349434.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":2169,"seq_id":"NM_014733.6"},"hgvs":"NM_014733.6:c.2042=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":680,"seq_id":"NP_055548.4"}}},"protein_product":{"refseq":"NP_055548.4"},"refseq":"NM_014733.6","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"C","inserted_sequence":"C","position":2298,"seq_id":"NR_146172.2"},"hgvs":"NR_146172.2:n.2299=","refseq":"NR_146172.2","so":[{"accession":"SO:0001619","name":"non_coding_transcript_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"C","inserted_sequence":"C","position":2220,"seq_id":"NR_146173.2"},"hgvs":"NR_146173.2:n.2221=","refseq":"NR_146173.2","so":[{"accession":"SO:0001619","name":"non_coding_transcript_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"C","inserted_sequence":"C","position":2298,"seq_id":"NR_146174.2"},"hgvs":"NR_146174.2:n.2299=","refseq":"NR_146174.2","so":[{"accession":"SO:0001619","name":"non_coding_transcript_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":2351,"seq_id":"XM_005248632.5"},"hgvs":"XM_005248632.5:c.2042=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":680,"seq_id":"XP_005248689.1"}}},"protein_product":{"refseq":"XP_005248689.1"},"refseq":"XM_005248632.5","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":2351,"seq_id":"XM_017010091.2"},"hgvs":"XM_017010091.2:c.2042=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":680,"seq_id":"XP_016865580.1"}}},"protein_product":{"refseq":"XP_016865580.1"},"refseq":"XM_017010091.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":2405,"seq_id":"XM_017010092.3"},"hgvs":"XM_017010092.3:c.2042=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":680,"seq_id":"XP_016865581.1"}}},"protein_product":{"refseq":"XP_016865581.1"},"refseq":"XM_017010092.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":2273,"seq_id":"XM_024446270.2"},"hgvs":"XM_024446270.2:c.2042=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":680,"seq_id":"XP_024302038.1"}}},"protein_product":{"refseq":"XP_024302038.1"},"refseq":"XM_024446270.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":4251,"seq_id":"XM_047417941.1"},"hgvs":"XM_047417941.1:c.2042=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":680,"seq_id":"XP_047273897.1"}}},"protein_product":{"refseq":"XP_047273897.1"},"refseq":"XM_047417941.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":2169,"seq_id":"XM_047417942.1"},"hgvs":"XM_047417942.1:c.2042=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":680,"seq_id":"XP_047273898.1"}}},"protein_product":{"refseq":"XP_047273898.1"},"refseq":"XM_047417942.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":2223,"seq_id":"XM_047417943.1"},"hgvs":"XM_047417943.1:c.2042=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":680,"seq_id":"XP_047273899.1"}}},"protein_product":{"refseq":"XP_047273899.1"},"refseq":"XM_047417943.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":2169,"seq_id":"XM_047417944.1"},"hgvs":"XM_047417944.1:c.2042=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":680,"seq_id":"XP_047273900.1"}}},"protein_product":{"refseq":"XP_047273900.1"},"refseq":"XM_047417944.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":2223,"seq_id":"XM_047417946.1"},"hgvs":"XM_047417946.1:c.2042=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":680,"seq_id":"XP_047273902.1"}}},"protein_product":{"refseq":"XP_047273902.1"},"refseq":"XM_047417946.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"GCA","inserted_sequence":"GCA","position":2297,"seq_id":"XM_047417947.1"},"hgvs":"XM_047417947.1:c.2042=","protein":{"variant":{"spdi":{"deleted_sequence":"A","inserted_sequence":"A","position":680,"seq_id":"XP_047273903.1"}}},"protein_product":{"refseq":"XP_047273903.1"},"refseq":"XM_047417947.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"C","inserted_sequence":"C","position":2170,"seq_id":"XR_007058663.1"},"hgvs":"XR_007058663.1:n.2171=","refseq":"XR_007058663.1","so":[{"accession":"SO:0001619","name":"non_coding_transcript_variant"}]}],"strand":"+","symbol":"ZFYVE16"},"hg19":{"end":79734546,"start":79734546},"ref":"C","rsid":"rs1750298583","vartype":"snv"},"hg19":{"end":79734546,"start":79734546},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"7420","position":"2350"},"cds":{"length":"4620","position":"2042"},"effect":"missense_variant","feature_id":"NM_001105251.2","feature_type":"transcript","gene_id":"ZFYVE16","genename":"ZFYVE16","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"1539","position":"681"},"putative_impact":"MODERATE","rank":"4","total":"19","transcript_biotype":"protein_coding"},{"cdna":{"length":"2943","position":"2222"},"cds":{"length":"2430","position":"2042"},"effect":"missense_variant","feature_id":"NM_001284237.1","feature_type":"transcript","gene_id":"ZFYVE16","genename":"ZFYVE16","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"809","position":"681"},"putative_impact":"MODERATE","rank":"3","total":"4","transcript_biotype":"protein_coding"},{"cdna":{"length":"7346","position":"2276"},"cds":{"length":"4620","position":"2042"},"effect":"missense_variant","feature_id":"NM_001284236.1","feature_type":"transcript","gene_id":"ZFYVE16","genename":"ZFYVE16","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"1539","position":"681"},"putative_impact":"MODERATE","rank":"4","total":"19","transcript_biotype":"protein_coding"},{"cdna":{"length":"7292","position":"2222"},"cds":{"length":"4620","position":"2042"},"effect":"missense_variant","feature_id":"NM_014733.4","feature_type":"transcript","gene_id":"ZFYVE16","genename":"ZFYVE16","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"1539","position":"681"},"putative_impact":"MODERATE","rank":"3","total":"18","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"T","position":"79734546","ref":"C"}},{"_id":"chr15:g.74427137C>T","_score":17.8158,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"T","anc":"C","annotype":"CodingTranscript","bstatistic":799,"chmm":{"bivflnk":0.094,"enh":0.0,"enhbiv":0.378,"het":0.008,"quies":0.008,"reprpc":0.299,"reprpcwk":0.102,"tssa":0.0,"tssaflnk":0.008,"tssbiv":0.047,"tx":0.0,"txflnk":0.008,"txwk":0.016,"znfrpts":0.0},"chrom":15,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.13,"dna":{"helt":1.59,"mgw":0.46,"prot":-2.86,"roll":0.91},"encode":{"exp":2.66,"h3k27ac":4.0,"h3k4me1":20.92,"h3k4me3":11.08,"nucleo":0.6,"occ":2,"p_val":{"comb":6.56,"ctcf":12.1,"dnas":7.84,"faire":1.65,"mycp":2.84,"polii":1.32},"sig":{"ctcf":2.01,"dnase":0.25,"faire":0.02,"myc":0.12,"polii":0.03}},"exon":"4/4","fitcons":0.622335,"gc":0.69,"gene":{"ccds_id":"CCDS10259.1","cds":{"cdna_pos":2811,"cds_pos":2042,"rel_cdna_pos":0.58,"rel_cds_pos":0.91},"feature_id":"ENST00000361742","gene_id":"ENSG00000167178","genename":"ISLR2","prot":{"protpos":681,"rel_prot_pos":0.91}},"gerp":{"n":4.69,"rs":550.3,"rs_pval":3.14213e-78,"s":-0.226},"grantham":64,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":282,"min_dist_tss":2894,"mutindex":96,"naa":"V","oaa":"A","phast_cons":{"mammalian":0.649,"primate":0.214,"vertebrate":0.216},"phred":14.58,"phylop":{"mammalian":0.346,"primate":0.307,"vertebrate":0.047},"polyphen":{"cat":"benign","val":0},"pos":74427137,"rawscore":1.730989,"ref":"C","segway":"TF0","sift":{"cat":"tolerated","val":0.32},"tf":{"bs":1,"bs_peaks":3,"bs_peaks_max":101.4568},"type":"SNV"},"chrom":"15","cosmic":{"_license":"http://bit.ly/2VMkY7R","alt":"T","chrom":"15","cosmic_id":"COSM964770","hg19":{"end":74427137,"start":74427137},"mut_freq":8.33,"mut_nt":"C>T","ref":"C","tumor_site":"endometrium"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"V","codon_degeneracy":[0,0,0,0,0,0],"codonpos":[2,2,2,2,2,2],"pos":[681,681,681,681,270,681],"ref":"A","refcodon":["GCG","GCG","GCG","GCG","GCG","GCG"]},"alphamissense":{"pred":["B","B","B"],"rankscore":0.05317,"score":[0.0724,0.0746,0.0714]},"alt":"T","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":["principal1","principal1","principal1","principal1","principal1"],"bayesdel":{"add_af":{"pred":"T","rankscore":0.06219,"score":-0.32857},"no_af":{"pred":"T","rankscore":0.05308,"score":-0.709745}},"bstatistic":{"converted_rankscore":0.39537,"score":829.0},"cds_strand":["+","+","+","+","+","+"],"chagyrskaya_neandertal":["C","C"],"chrom":"15","clinpred":{"pred":"T","rankscore":0.05169,"score":0.0481398192424527},"dann":{"rankscore":0.27833,"score":0.9579238805889129},"denisova":["C","C"],"deogen2":{"pred":["T","T","T","T","T"],"rankscore":0.22872,"score":[0.033337,0.033337,0.033337,0.033337,0.033337]},"eigen":{"phred_coding":0.3415863,"raw_coding":-1.06174103530998,"raw_coding_rankscore":0.07359},"eigen-pc":{"phred_coding":0.4722865,"raw_coding":-1.01352724159267,"raw_coding_rankscore":0.09487},"ensembl":{"geneid":["ENSG00000167178","ENSG00000167178","ENSG00000167178","ENSG00000167178","ENSG00000167178","ENSG00000167178"],"proteinid":["ENSP00000355402","ENSP00000455531","ENSP00000411443","ENSP00000411834","ENSP00000408872","ENSP00000458080"],"transcriptid":["ENST00000361742","ENST00000565159","ENST00000435464","ENST00000453268","ENST00000419208","ENST00000565540"]},"esm1b":{"pred":["T","T","T","T","T"],"rankscore":0.28023,"score":[-4.289,-4.289,-4.289,-4.289,-4.289]},"fathmm":{"converted_rankscore":0.55439,"pred":["T","T","T","T","T"],"score":[0.51,0.51,0.51,0.51,0.51]},"fathmm-mkl":{"coding_group":"AEFDGBCI","coding_pred":"N","coding_rankscore":0.26394,"coding_score":0.40248},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.38981,"coding_score":0.27468},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.11318,"score":0.541168},"h1-hesc":{"confidence_value":0,"rankscore":0.08637,"score":0.503968},"huvec":{"confidence_value":0,"rankscore":0.68394,"score":0.691587},"integrated":{"confidence_value":0,"rankscore":0.33608,"score":0.582742}},"gencode_basic":["Y","Y","Y","Y","Y","Y"],"genename":["ISLR2","ISLR2","ISLR2","ISLR2","ISLR2","ISLR2"],"genocanyon":{"rankscore":0.4811,"score":0.99995941564156},"gerp":{"91_mammals":{"rankscore":0.39477,"score":1.99}},"gerp++":{"nr":4.69,"rs":-0.226,"rs_rankscore":0.1246},"gmvp":{"rankscore":0.14229,"score":0.14306203027517858},"hg18":{"end":72214190,"start":72214190},"hg19":{"end":74427137,"start":74427137},"hg38":{"end":74134796,"start":74134796},"hgvsc":["c.809C>T","c.2042C>T"],"hgvsp":["p.A270V","p.Ala681Val","p.Ala270Val","p.A681V"],"list-s2":{"pred":["T","T"],"rankscore":0.11905,"score":[0.435056,0.393561]},"m-cap":{"pred":"T","rankscore":0.39265,"score":0.017527},"metalr":{"pred":"T","rankscore":0.26172,"score":0.063},"metarnn":{"pred":["T","T","T","T","T","T"],"rankscore":0.01131,"score":[0.03004983,0.03004983,0.03004983,0.03004983,0.03004983,0.03004983]},"metasvm":{"pred":"T","rankscore":0.2026,"score":-1.0306},"mutationassessor":{"pred":["N","N","N","N","N"],"rankscore":0.11182,"score":[0.345,0.345,0.345,0.345,0.345]},"mutationtaster":{"aae":["A681V","A681V","A681V","A681V","A681V","A681V","A681V"],"converted_rankscore":0.08975,"model":["simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["N","N","N","N","N","N","N"],"score":[0.999998,0.999998,0.999998,0.999998,0.999998,0.999998,0.999998]},"mutformer":{"rankscore":0.07496,"score":0.00040546},"mutpred":{"aa_change":["A681V","A681V","A681V","A681V","A681V"],"accession":["Q6UXK2","Q6UXK2","Q6UXK2","Q6UXK2","Q6UXK2"],"pred":[{"mechanism":"Loss of loop","p_val":0.4412},{"mechanism":"Loss of loop","p_val":0.4412},{"mechanism":"Loss of loop","p_val":0.4412},{"mechanism":"Loss of loop","p_val":0.4412},{"mechanism":"Loss of loop","p_val":0.4412}],"rankscore":0.00663,"score":[0.08,0.08,0.08,0.08,0.08]},"mvp":{"rankscore":0.0136,"score":[0.0297737177859,0.0297737177859,0.0297737177859,0.0297737177859,0.0297737177859,0.0297737177859]},"phactboost":{"rankscore":0.04594,"score":[0.000235883759309464,0.000235883759309464,0.000235883759309464,0.000235883759309464,0.000235883759309464]},"phastcons":{"100way_vertebrate":{"rankscore":0.15269,"score":0.002},"17way_primate":{"rankscore":0.21983,"score":0.203},"470way_mammalian":{"rankscore":0.08366,"score":0.0}},"phylop":{"100way_vertebrate":{"rankscore":0.04121,"score":-0.92},"17way_primate":{"rankscore":0.07045,"score":-0.256},"470way_mammalian":{"rankscore":0.07031,"score":-0.89}},"polyphen2":{"hdiv":{"pred":["B","B","B","B","B"],"rankscore":0.09854,"score":[0.002,0.002,0.002,0.002,0.002]},"hvar":{"pred":["B","B","B","B","B"],"rankscore":0.04355,"score":[0.001,0.001,0.001,0.001,0.001]}},"primateai":{"pred":"T","rankscore":0.49699,"score":0.577252626419},"provean":{"converted_rankscore":0.08653,"pred":["N","N","N","N","N"],"score":[-0.11,-0.11,-0.11,-0.11,-0.11]},"ref":"C","reliability_index":9,"revel":{"rankscore":0.12618,"score":[0.046,0.046,0.046,0.046]},"sift":{"converted_rankscore":0.06184,"pred":["T","T","T","T","T"],"score":[0.57,0.57,0.57,0.57,0.57]},"sift4g":{"converted_rankscore":0.25827,"pred":["T","T","T","T","T","T"],"score":[0.32,0.32,0.32,0.32,0.221,0.32]},"siphy_29way":{"logodds_rankscore":0.15246,"logodds_score":5.3324,"pi":{"a":0.4669,"c":0.4292,"g":0.0,"t":0.1039}},"tsl":[1,3,2,1,1,4],"uniprot":[{"acc":"Q6UXK2","entry":"ISLR2_HUMAN"},{"acc":"Q6UXK2","entry":"ISLR2_HUMAN"},{"acc":"Q6UXK2","entry":"ISLR2_HUMAN"},{"acc":"Q6UXK2","entry":"ISLR2_HUMAN"},{"acc":"Q24JQ5","entry":"Q24JQ5_HUMAN"},{"acc":"Q6UXK2","entry":"ISLR2_HUMAN"}],"varity":{"er":{"rankscore":0.08268,"score":[0.051412825,0.051412825,0.051412825,0.051412825,0.051412825]},"er_loo":{"rankscore":0.08267,"score":[0.051412825,0.051412825,0.051412825,0.051412825,0.051412825]},"r":{"rankscore":0.02761,"score":[0.030632107,0.030632107,0.030632107,0.030632107,0.030632107]},"r_loo":{"rankscore":0.0276,"score":[0.030632107,0.030632107,0.030632107,0.030632107,0.030632107]}},"vep_canonical":"YES","vest4":{"rankscore":0.03175,"score":[0.033,0.039,0.025,0.035,0.06,0.031]},"vindijia_neandertal":["C","C"]},"hg19":{"end":74427137,"start":74427137},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"4817","position":"2811"},"cds":{"length":"2238","position":"2042"},"effect":"missense_variant","feature_id":"NM_001130136.1","feature_type":"transcript","gene_id":"ISLR2","genename":"ISLR2","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"745","position":"681"},"putative_impact":"MODERATE","rank":"4","total":"4","transcript_biotype":"protein_coding"},{"cdna":{"length":"4553","position":"2547"},"cds":{"length":"2238","position":"2042"},"effect":"missense_variant","feature_id":"NM_001130137.1","feature_type":"transcript","gene_id":"ISLR2","genename":"ISLR2","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"745","position":"681"},"putative_impact":"MODERATE","rank":"4","total":"4","transcript_biotype":"protein_coding"},{"cdna":{"length":"4261","position":"2255"},"cds":{"length":"2238","position":"2042"},"effect":"missense_variant","feature_id":"NM_001130138.1","feature_type":"transcript","gene_id":"ISLR2","genename":"ISLR2","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"745","position":"681"},"putative_impact":"MODERATE","rank":"4","total":"4","transcript_biotype":"protein_coding"},{"cdna":{"length":"4386","position":"2380"},"cds":{"length":"2238","position":"2042"},"effect":"missense_variant","feature_id":"NM_020851.2","feature_type":"transcript","gene_id":"ISLR2","genename":"ISLR2","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"745","position":"681"},"putative_impact":"MODERATE","rank":"3","total":"3","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"T","position":"74427137","ref":"C"}},{"_id":"chr17:g.3476988G>A","_score":17.812914,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"A","anc":"G","annotype":"CodingTranscript","bstatistic":754,"chmm":{"bivflnk":0.0,"enh":0.008,"enhbiv":0.0,"het":0.0,"quies":0.11,"reprpc":0.0,"reprpcwk":0.0,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.299,"txflnk":0.0,"txwk":0.575,"znfrpts":0.0},"chrom":17,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.03,"dna":{"helt":-2.15,"mgw":0.06,"prot":1.57,"roll":-0.29},"encode":{"exp":19.34,"h3k27ac":6.76,"h3k4me1":4.0,"h3k4me3":1.0,"nucleo":1.1,"occ":2,"p_val":{"comb":2.35,"ctcf":0.0,"dnas":1.99,"faire":1.29,"mycp":0.0,"polii":0.0},"sig":{"ctcf":0.04,"dnase":0.05,"faire":0.02,"myc":0.0,"polii":0.0}},"exon":["13/16","14/17"],"fitcons":0.625622,"gc":0.53,"gene":[{"ccds_id":"CCDS45576.1","cds":{"cdna_pos":2256,"cds_pos":2042,"rel_cdna_pos":0.55,"rel_cds_pos":0.81},"feature_id":"ENST00000571088","gene_id":"ENSG00000196689","genename":"TRPV1","prot":{"domain":"ndomain","protpos":681,"rel_prot_pos":0.81}},{"ccds_id":"CCDS45576.1","cds":{"cdna_pos":2317,"cds_pos":2042,"rel_cdna_pos":0.56,"rel_cds_pos":0.81},"feature_id":"ENST00000572705","gene_id":"ENSG00000262304","genename":"SHPK","prot":{"domain":"ndomain","protpos":681,"rel_prot_pos":0.81}}],"gerp":{"n":5.62,"rs":881,"rs_pval":6.36687e-145,"s":5.62},"grantham":64,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":0.5,"35bp":1},"min_dist_tse":129,"min_dist_tss":4195,"mutindex":-10,"naa":"V","oaa":"A","phast_cons":{"mammalian":0.998,"primate":0.74,"vertebrate":1.0},"phred":29.4,"phylop":{"mammalian":2.822,"primate":0.486,"vertebrate":5.58},"polyphen":{"cat":"probably_damaging","val":0.945},"pos":3476988,"rawscore":6.36208,"ref":"G","segway":"R3","sift":{"cat":"deleterious","val":0},"tf":{"bs":1,"bs_peaks":1,"bs_peaks_max":25.1092},"type":"SNV"},"chrom":"17","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"V","codon_degeneracy":[0,0,0,0,0,0,0],"codonpos":[2,2,2,2,2,2,2],"pos":[681,681,681,681,692,671,621],"ref":"A","refcodon":["GCC","GCC","GCC","GCC","GCC","GCC","GCC"]},"alphamissense":{"pred":["P","P","P","P","P"],"rankscore":0.95199,"score":[0.9895,0.9919,0.9897,0.9943,0.9913]},"alt":"A","ancestral_allele":"G","appris":["principal2","principal2","principal2","principal2","alternative2","alternative2","alternative2"],"bayesdel":{"add_af":{"pred":"D","rankscore":0.88786,"score":0.381199},"no_af":{"pred":"D","rankscore":0.88644,"score":0.30979}},"bstatistic":{"converted_rankscore":0.65529,"score":625.0},"chrom":"17","clinpred":{"pred":"D","rankscore":0.89523,"score":0.99652498960495},"dann":{"rankscore":0.97726,"score":0.9990718872265056},"deogen2":{"pred":["D","D","D","D"],"rankscore":0.99922,"score":[0.986695,0.986695,0.986695,0.986695]},"eigen":{"phred_coding":12.80758,"raw_coding":0.963379476930874,"raw_coding_rankscore":0.94501},"eigen-pc":{"phred_coding":13.71371,"raw_coding":0.899099788937628,"raw_coding_rankscore":0.95532},"ensembl":{"geneid":["ENSG00000196689","ENSG00000196689","ENSG00000196689","ENSG00000196689","ENSG00000196689","ENSG00000196689","ENSG00000196689"],"proteinid":["ENSP00000382661","ENSP00000461007","ENSP00000459962","ENSP00000382659","ENSP00000409627","ENSP00000459042","ENSP00000311692"],"transcriptid":["ENST00000399759","ENST00000571088","ENST00000572705","ENST00000399756","ENST00000425167","ENST00000576351","ENST00000310522"]},"esm1b":{"pred":["D","D","D","D"],"rankscore":0.93053,"score":[-13.999,-13.999,-13.999,-13.999]},"fathmm":{"converted_rankscore":0.91533,"pred":["D","D","D","D","D","D","D"],"score":[-2.88,-2.88,-2.88,-2.88,-2.88,-2.88,-2.88]},"fathmm-mkl":{"coding_group":"AEFDGBHI","coding_pred":"D","coding_rankscore":0.94153,"coding_score":0.99299},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.90795,"coding_score":0.926604},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.55848,"score":0.633656},"h1-hesc":{"confidence_value":0,"rankscore":0.55881,"score":0.658983},"huvec":{"confidence_value":0,"rankscore":0.61905,"score":0.655142},"integrated":{"confidence_value":0,"rankscore":0.37627,"score":0.615465}},"gencode_basic":["Y","Y","Y","Y","Y","Y","Y"],"genename":["TRPV1","TRPV1","TRPV1","TRPV1","TRPV1","TRPV1","TRPV1"],"genocanyon":{"rankscore":0.74766,"score":0.999999998383515},"gerp++":{"nr":5.62,"rs":5.62,"rs_rankscore":0.85714},"gmvp":{"rankscore":0.90218,"score":0.9024668136660331},"hg18":{"end":3423738,"start":3423738},"hg19":{"end":3476988,"start":3476988},"hg38":{"end":3573694,"start":3573694},"hgvsc":["c.2075C>T","c.2042C>T","c.2012C>T","c.1862C>T"],"hgvsp":["p.A681V","p.A671V","p.A621V","p.A692V","p.Ala681Val","p.Ala671Val","p.Ala621Val","p.Ala692Val"],"interpro":{"domain":["Ion transport domain","Ion transport domain","Ion transport domain","Ion transport domain","Ion transport domain","Ion transport domain","Ion transport domain"]},"list-s2":{"pred":["D","D","D","D"],"rankscore":0.99748,"score":[0.999334,0.999334,0.999334,0.933907]},"lrt":{"converted_rankscore":0.8433,"omega":0.0,"pred":"D","score":0.0},"m-cap":{"pred":"D","rankscore":0.96012,"score":0.562536},"metalr":{"pred":"D","rankscore":0.97016,"score":0.91},"metarnn":{"pred":["D","D","D","D","D","D","D"],"rankscore":0.84837,"score":[0.85638547,0.85638547,0.85638547,0.85638547,0.85638547,0.85638547,0.8563856]},"metasvm":{"pred":"D","rankscore":0.97563,"score":1.0216},"mpc":{"rankscore":0.38475,"score":0.369461321057},"mutationassessor":{"pred":["M","M","M","M"],"rankscore":0.85398,"score":[2.975,2.975,2.975,2.975]},"mutationtaster":{"aae":["A681V","A681V","A681V","A692V","A671V","A621V","A679V"],"converted_rankscore":0.81001,"model":["simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["D","D","D","D","D","D","D"],"score":[1.0,1.0,1.0,1.0,1.0,1.0,1.0]},"mutformer":{"rankscore":0.5497,"score":0.03254164},"mutpred":{"aa_change":"A692V","accession":"E7EQ78","pred":{"mechanism":"Gain of catalytic residue at E696","p_val":0.1853},"rankscore":0.36548,"score":0.361},"mvp":{"rankscore":0.6478,"score":[0.6507085132,0.6507085132,0.6507085132,0.6507085132,0.6507085132,0.6507085132,0.6507085132]},"phactboost":{"rankscore":0.86518,"score":[0.984624405380718,0.984624405380718,0.984624405380718,0.984624405380718]},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.53164,"score":0.966},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.97122,"score":9.532},"17way_primate":{"rankscore":0.32079,"score":0.591},"470way_mammalian":{"rankscore":0.98731,"score":11.877}},"polyphen2":{"hdiv":{"pred":["D","D","D","D","D","D"],"rankscore":0.90584,"score":[0.996,0.996,0.996,0.996,0.962,1.0]},"hvar":{"pred":["D","D","D","D","P","D"],"rankscore":0.78396,"score":[0.984,0.984,0.984,0.984,0.706,0.989]}},"primateai":{"pred":"T","rankscore":0.81354,"score":0.795998454094},"provean":{"converted_rankscore":0.71157,"pred":["D","D","D","D"],"score":[-3.72,-3.72,-3.72,-3.75]},"ref":"G","reliability_index":10,"revel":{"rankscore":0.94503,"score":[0.827,0.827,0.827,0.827]},"sift":{"converted_rankscore":0.91255,"pred":["D","D","D","D"],"score":[0.0,0.0,0.0,0.0]},"sift4g":{"converted_rankscore":0.79402,"pred":["D","D","D","D","D","D","D"],"score":[0.002,0.002,0.002,0.002,0.002,0.002,0.002]},"siphy_29way":{"logodds_rankscore":0.92917,"logodds_score":19.0274,"pi":{"a":0.0,"c":0.0,"g":1.0,"t":0.0}},"tsl":[1,1,1,1,1,5,1],"uniprot":[{"acc":"Q8NER1","entry":"TRPV1_HUMAN"},{"acc":"Q8NER1","entry":"TRPV1_HUMAN"},{"acc":"Q8NER1","entry":"TRPV1_HUMAN"},{"acc":"Q8NER1","entry":"TRPV1_HUMAN"},{"acc":"E7EQ78","entry":"E7EQ78_HUMAN"},{"acc":"I3L1R6","entry":"I3L1R6_HUMAN"},{"acc":"E7ESJ2","entry":"E7ESJ2_HUMAN"}],"varity":{"er":{"rankscore":0.83392,"score":[0.71867245,0.71867245,0.71867245,0.71867245]},"er_loo":{"rankscore":0.83392,"score":[0.71867245,0.71867245,0.71867245,0.71867245]},"r":{"rankscore":0.83065,"score":[0.7866582,0.7866582,0.7866582,0.7866582]},"r_loo":{"rankscore":0.83067,"score":[0.7866582,0.7866582,0.7866582,0.7866582]}},"vep_canonical":"YES","vest4":{"rankscore":0.97317,"score":[0.962,0.959,0.963,0.962,0.913,0.96,0.942]}},"hg19":{"end":3476988,"start":3476988},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"4047","position":"2200"},"cds":{"length":"2520","position":"2042"},"effect":"missense_variant","feature_id":"NM_018727.5","feature_type":"transcript","gene_id":"TRPV1","genename":"TRPV1","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"839","position":"681"},"putative_impact":"MODERATE","rank":"13","total":"16","transcript_biotype":"protein_coding"},{"cdna":{"length":"4416","position":"2569"},"cds":{"length":"2520","position":"2042"},"effect":"missense_variant","feature_id":"NM_080706.3","feature_type":"transcript","gene_id":"TRPV1","genename":"TRPV1","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"839","position":"681"},"putative_impact":"MODERATE","rank":"12","total":"15","transcript_biotype":"protein_coding"},{"cdna":{"length":"4090","position":"2243"},"cds":{"length":"2520","position":"2042"},"effect":"missense_variant","feature_id":"NM_080705.3","feature_type":"transcript","gene_id":"TRPV1","genename":"TRPV1","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"839","position":"681"},"putative_impact":"MODERATE","rank":"13","total":"16","transcript_biotype":"protein_coding"},{"cdna":{"length":"4164","position":"2317"},"cds":{"length":"2520","position":"2042"},"effect":"missense_variant","feature_id":"NM_080704.3","feature_type":"transcript","gene_id":"TRPV1","genename":"TRPV1","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"839","position":"681"},"putative_impact":"MODERATE","rank":"14","total":"17","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"A","position":"3476988","ref":"G"}},{"_id":"chr17:g.7227447G>A","_score":17.70105,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"A","anc":"G","annotype":"CodingTranscript","bstatistic":362,"chmm":{"bivflnk":0.0,"enh":0.11,"enhbiv":0.0,"het":0.0,"quies":0.016,"reprpc":0.0,"reprpcwk":0.0,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.717,"txflnk":0.016,"txwk":0.11,"znfrpts":0.0},"chrom":17,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.12,"dna":{"helt":-1.87,"mgw":0.07,"prot":1.32,"roll":-0.88},"encode":{"exp":78.22,"h3k27ac":6.48,"h3k4me1":4.52,"h3k4me3":2.0,"nucleo":0.7,"occ":2,"p_val":{"comb":15.65,"ctcf":16.0,"dnas":16.0,"faire":2.51,"mycp":1.98,"polii":2.45},"sig":{"ctcf":5.09,"dnase":0.52,"faire":0.02,"myc":0.1,"polii":0.07}},"exon":"11/29","fitcons":0.622335,"gc":0.7,"gene":{"ccds_id":"CCDS42251.1","cds":{"cdna_pos":2058,"cds_pos":2042,"rel_cdna_pos":0.4,"rel_cds_pos":0.44},"feature_id":"ENST00000399464","gene_id":"ENSG00000215041","genename":"NEURL4","prot":{"domain":"ndomain","protpos":681,"rel_prot_pos":0.44}},"gerp":{"n":5.7,"rs":3316.7,"rs_pval":1.08764e-190,"s":5.7},"grantham":64,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":1054,"min_dist_tss":243,"mutindex":25,"naa":"V","oaa":"A","phast_cons":{"mammalian":1.0,"primate":0.997,"vertebrate":1.0},"phred":25.1,"phylop":{"mammalian":2.685,"primate":0.651,"vertebrate":4.26},"polyphen":{"cat":"possibly_damaging","val":0.878},"pos":7227447,"rawscore":4.966261,"ref":"G","segway":"TF2","sift":{"cat":"tolerated","val":0.25},"tf":{"bs":1,"bs_peaks":1,"bs_peaks_max":38.8015},"type":"SNV"},"chrom":"17","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"V","codon_degeneracy":[0,0,0],"codonpos":[2,2,2],"pos":[681,681,659],"ref":"A","refcodon":["GCC","GCC","GCC"]},"alphamissense":{"pred":["P","P","P"],"rankscore":0.7523,"score":[0.6126,0.7541,0.6478]},"alt":"A","altai_neandertal":["G","G"],"ancestral_allele":"G","appris":["alternative2","principal4","alternative2"],"bayesdel":{"add_af":{"pred":"D","rankscore":0.6686,"score":0.124898},"no_af":{"pred":"T","rankscore":0.66446,"score":-0.0583685}},"bstatistic":{"converted_rankscore":0.8069,"score":432.0},"chagyrskaya_neandertal":["G","G"],"chrom":"17","clinpred":{"pred":"D","rankscore":0.60859,"score":0.938185453414917},"dann":{"rankscore":0.98721,"score":0.9992035450250425},"denisova":["G","G"],"deogen2":{"pred":"T","rankscore":0.35008,"score":0.074727},"eigen":{"phred_coding":5.942085,"raw_coding":0.6018315404989,"raw_coding_rankscore":0.73291},"eigen-pc":{"phred_coding":7.16564,"raw_coding":0.666283760571155,"raw_coding_rankscore":0.79829},"ensembl":{"geneid":["ENSG00000215041","ENSG00000215041","ENSG00000215041"],"proteinid":["ENSP00000319826","ENSP00000382390","ENSP00000459978"],"transcriptid":["ENST00000315614","ENST00000399464","ENST00000570460"]},"esm1b":{"pred":["T","T"],"rankscore":0.40967,"score":[-5.353,-5.405]},"fathmm":{"converted_rankscore":0.67874,"pred":["T","T","T"],"score":[-0.3,-0.3,-0.3]},"fathmm-mkl":{"coding_group":"AEFDBCI","coding_pred":"D","coding_rankscore":0.79572,"coding_score":0.98097},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.79515,"coding_score":0.873019},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.99637,"score":0.779548},"h1-hesc":{"confidence_value":0,"rankscore":0.45252,"score":0.635938},"huvec":{"confidence_value":0,"rankscore":0.68394,"score":0.691587},"integrated":{"confidence_value":0,"rankscore":0.81865,"score":0.712529}},"gencode_basic":["Y","Y","Y"],"genename":["NEURL4","NEURL4","NEURL4"],"genocanyon":{"rankscore":0.74766,"score":0.999999829020519},"gerp":{"91_mammals":{"rankscore":0.78186,"score":4.1}},"gerp++":{"nr":5.7,"rs":5.7,"rs_rankscore":0.8869},"gmvp":{"rankscore":0.4679,"score":0.46871917784280215},"hg18":{"end":7168171,"start":7168171},"hg19":{"end":7227447,"start":7227447},"hg38":{"end":7324128,"start":7324128},"hgvsc":["c.1976C>T","c.2042C>T"],"hgvsp":["p.A659V","p.Ala659Val","p.Ala681Val","p.A681V"],"interpro":{"domain":["Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) domain","Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) domain"]},"list-s2":{"pred":["D","D","D"],"rankscore":0.88985,"score":[0.96937,0.96937,0.96937]},"lrt":{"converted_rankscore":0.62929,"omega":0.057474,"pred":"N","score":2e-6},"m-cap":{"pred":"T","rankscore":0.37623,"score":0.016388},"metalr":{"pred":"T","rankscore":0.69108,"score":0.3221},"metarnn":{"pred":["D","D","D"],"rankscore":0.64302,"score":[0.55188966,0.55188966,0.55188966]},"metasvm":{"pred":"T","rankscore":0.66603,"score":-0.5548},"mpc":{"rankscore":0.8383,"score":1.34031216869},"mutationassessor":{"pred":["N","N"],"rankscore":0.07933,"score":[0.005,0.005]},"mutationtaster":{"aae":["A681V","A681V","A659V"],"converted_rankscore":0.4898,"model":["simple_aae","simple_aae","simple_aae"],"pred":["D","D","D"],"score":[0.999776,0.999776,0.999776]},"mutformer":{"rankscore":0.57277,"score":0.04021292},"mutpred":{"aa_change":["A681V","A681V"],"accession":["Q96JN8","Q96JN8"],"pred":[{"mechanism":"Gain of sheet","p_val":0.1208},{"mechanism":"Gain of sheet","p_val":0.1208}],"rankscore":0.41115,"score":[0.389,0.389]},"mvp":{"rankscore":0.19028,"score":[0.193917141947,0.193917141947,0.193917141947]},"phactboost":{"rankscore":0.69575,"score":0.771108649831037},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.91618,"score":0.999},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.71914,"score":6.18},"17way_primate":{"rankscore":0.70159,"score":0.672},"470way_mammalian":{"rankscore":0.95236,"score":11.743}},"polyphen2":{"hdiv":{"pred":["D","D"],"rankscore":0.90584,"score":[1.0,0.993]},"hvar":{"pred":["D","D"],"rankscore":0.86255,"score":[0.997,0.978]}},"primateai":{"pred":"D","rankscore":0.82952,"score":0.806489288807},"provean":{"converted_rankscore":0.56144,"pred":["D","D"],"score":[-2.61,-2.61]},"ref":"G","reliability_index":10,"revel":{"rankscore":0.66956,"score":[0.348,0.348]},"sift":{"converted_rankscore":0.27544,"pred":["T","T"],"score":[0.123,0.123]},"sift4g":{"converted_rankscore":0.27767,"pred":["T","T","T"],"score":[0.198,0.198,0.201]},"siphy_29way":{"logodds_rankscore":0.91269,"logodds_score":18.6186,"pi":{"a":0.0,"c":0.0,"g":1.0,"t":0.0}},"tsl":[1,1,5],"uniprot":[{"acc":"Q96JN8-2","entry":"NEUL4_HUMAN"},{"acc":"Q96JN8","entry":"NEUL4_HUMAN"},{"acc":"I3L2W2","entry":"I3L2W2_HUMAN"}],"varity":{"er":{"rankscore":0.56689,"score":0.30665016},"er_loo":{"rankscore":0.56688,"score":0.30665016},"r":{"rankscore":0.49443,"score":0.2637808},"r_loo":{"rankscore":0.49443,"score":0.2637808}},"vep_canonical":"YES","vest4":{"rankscore":0.75742,"score":[0.759,0.759,0.751]},"vindijia_neandertal":["G","G"]},"hg19":{"end":7227447,"start":7227447},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"5187","position":"2049"},"cds":{"length":"4689","position":"2042"},"effect":"missense_variant","feature_id":"NM_032442.2","feature_type":"transcript","gene_id":"NEURL4","genename":"NEURL4","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"1562","position":"681"},"putative_impact":"MODERATE","rank":"11","total":"29","transcript_biotype":"protein_coding"},{"cdna":{"length":"5181","position":"2049"},"cds":{"length":"4683","position":"2042"},"effect":"missense_variant","feature_id":"NM_001005408.1","feature_type":"transcript","gene_id":"NEURL4","genename":"NEURL4","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"1560","position":"681"},"putative_impact":"MODERATE","rank":"11","total":"29","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"A","position":"7227447","ref":"G"}},{"_id":"chr4:g.1379661C>T","_score":17.677269,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"T","anc":"C","annotype":"CodingTranscript","bstatistic":821,"chmm":{"bivflnk":0.0,"enh":0.008,"enhbiv":0.0,"het":0.0,"quies":0.126,"reprpc":0.0,"reprpcwk":0.0,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.559,"txflnk":0.0,"txwk":0.268,"znfrpts":0.039},"chrom":4,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.07,"dna":{"helt":1.26,"mgw":0.44,"prot":-1.02,"roll":0.84},"dst2splice":6,"dst2spltype":"ACCEPTOR","encode":{"exp":44.58,"h3k27ac":2.0,"h3k4me1":1.64,"h3k4me3":2.0,"nucleo":1.7},"exon":"14/14","fitcons":0.625622,"gc":0.58,"gene":{"ccds_id":"CCDS33938.1","cds":{"cdna_pos":2489,"cds_pos":2042,"rel_cdna_pos":0.55,"rel_cds_pos":0.96},"feature_id":"ENST00000389851","gene_id":"ENSG00000163945","genename":"UVSSA","prot":{"domain":"lcompl","protpos":681,"rel_prot_pos":0.96}},"gerp":{"n":5.19,"rs":44.9,"rs_pval":5.04556e-9,"s":5.19},"grantham":64,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":37,"min_dist_tss":1061,"mutindex":-10,"naa":"V","oaa":"A","phast_cons":{"mammalian":0.799,"primate":0.064,"vertebrate":0.545},"phred":26.6,"phylop":{"mammalian":2.397,"primate":0.651,"vertebrate":3.441},"polyphen":{"cat":"possibly_damaging","val":0.902},"pos":1379661,"rawscore":5.632696,"ref":"C","segway":"TF2","sift":{"cat":"deleterious","val":0.01},"type":"SNV"},"chrom":"4","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"V","codon_degeneracy":[0,0,0,0,0],"codonpos":[2,2,2,2,2],"pos":[681,681,681,232,232],"ref":"A","refcodon":["GCT","GCT","GCT","GCT","GCT"]},"alphamissense":{"pred":["A","B","B"],"rankscore":0.57342,"score":[0.3621,0.3155,0.2727]},"alt":"T","altai_neandertal":["C","C"],"appris":["principal2","principal2","principal2","alternative2","alternative2"],"bayesdel":{"add_af":{"pred":"T","rankscore":0.46481,"score":-0.0363975},"no_af":{"pred":"T","rankscore":0.45767,"score":-0.290059}},"bstatistic":{"converted_rankscore":0.36989,"score":842.0},"cds_strand":["+","+","+","+","+"],"chagyrskaya_neandertal":["C","C"],"chrom":"4","clinpred":{"pred":"D","rankscore":0.69725,"score":0.97250360250473},"dann":{"rankscore":0.9516,"score":0.9987413124143009},"denisova":["C","C"],"deogen2":{"pred":["T","T","T"],"rankscore":0.3619,"score":[0.0797,0.0797,0.0797]},"eigen":{"phred_coding":4.173704,"raw_coding":0.371863329608815,"raw_coding_rankscore":0.59903},"eigen-pc":{"phred_coding":3.773939,"raw_coding":0.309710757198926,"raw_coding_rankscore":0.56111},"ensembl":{"geneid":["ENSG00000163945","ENSG00000163945","ENSG00000163945","ENSG00000163945","ENSG00000163945"],"proteinid":["ENSP00000425130","ENSP00000374501","ENSP00000421741","ENSP00000423340","ENSP00000427701"],"transcriptid":["ENST00000511216","ENST00000389851","ENST00000507531","ENST00000511563","ENST00000512728"]},"esm1b":{"pred":["D","D","D","D","D"],"rankscore":0.78156,"score":[-10.73,-10.73,-10.73,-7.514,-7.514]},"eve":{"class10_pred":["U","U","U"],"class20_pred":["U","U","U"],"class25_pred":["U","U","U"],"class30_pred":["U","U","U"],"class40_pred":["U","U","U"],"class50_pred":["U","U","U"],"class60_pred":["U","U","U"],"class70_pred":["P","P","P"],"class75_pred":["P","P","P"],"class80_pred":["P","P","P"],"class90_pred":["P","P","P"],"rankscore":0.77124,"score":[0.6932286512492977,0.6932286512492977,0.6932286512492977]},"fathmm":{"converted_rankscore":0.4846,"pred":["T","T","T","T","T"],"score":[1.26,1.26,1.26,0.81,0.81]},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.62259,"coding_score":0.94767},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.50943,"coding_score":0.458373},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.57511,"score":0.643519},"h1-hesc":{"confidence_value":0,"rankscore":0.80598,"score":0.723109},"huvec":{"confidence_value":0,"rankscore":0.61905,"score":0.655142},"integrated":{"confidence_value":0,"rankscore":0.41761,"score":0.634777}},"gencode_basic":["Y","Y","Y","Y","Y"],"genename":["UVSSA","UVSSA","UVSSA","UVSSA","UVSSA"],"genocanyon":{"rankscore":0.24438,"score":0.815938415375787},"gerp":{"91_mammals":{"rankscore":0.54823,"score":3.0}},"gerp++":{"nr":5.19,"rs":5.19,"rs_rankscore":0.71428},"gmvp":{"rankscore":0.18359,"score":0.18440843202643553},"hg18":{"end":1369661,"start":1369661},"hg19":{"end":1379661,"start":1379661},"hg38":{"end":1385873,"start":1385873},"hgvsc":["c.695C>T","c.2042C>T"],"hgvsp":["p.A232V","p.Ala681Val","p.Ala232Val","p.A681V"],"list-s2":{"pred":["D","D"],"rankscore":0.57909,"score":[0.867913,0.872413]},"lrt":{"converted_rankscore":0.41772,"omega":0.242758,"pred":"D","score":0.000793},"m-cap":{"pred":"D","rankscore":0.64923,"score":0.052071},"metalr":{"pred":"T","rankscore":0.57507,"score":0.2139},"metarnn":{"pred":["T","T","T","T","T"],"rankscore":0.45578,"score":[0.2800328,0.2800328,0.2800328,0.2800328,0.2800328]},"metasvm":{"pred":"T","rankscore":0.64076,"score":-0.6179},"mpc":{"rankscore":0.11022,"score":0.0976608266512},"mutationassessor":{"pred":["M","M","M"],"rankscore":0.70256,"score":[2.425,2.425,2.425]},"mutationtaster":{"aae":["A681V","A681V","A681V","A232V","A232V"],"converted_rankscore":0.30936,"model":["simple_aae","simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["N","N","N","N","N"],"score":[0.601588,0.601588,0.601588,0.601588,0.601588]},"mutformer":{"rankscore":0.39949,"score":0.00878336},"mutpred":{"aa_change":["A681V","A681V","A681V"],"accession":["Q2YD98","Q2YD98","Q2YD98"],"pred":[{"mechanism":"Gain of methylation at K679","p_val":0.0694},{"mechanism":"Gain of methylation at K679","p_val":0.0694},{"mechanism":"Gain of methylation at K679","p_val":0.0694}],"rankscore":0.14518,"score":[0.222,0.222,0.222]},"mvp":{"rankscore":0.32661,"score":[0.330589388543,0.330589388543,0.330589388543,0.330589388543,0.330589388543]},"phactboost":{"rankscore":0.65417,"score":[0.652035146361002,0.652035146361002,0.652035146361002]},"phastcons":{"100way_vertebrate":{"rankscore":0.29037,"score":0.741},"17way_primate":{"rankscore":0.18562,"score":0.106},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.64112,"score":5.056},"17way_primate":{"rankscore":0.4025,"score":0.599},"470way_mammalian":{"rankscore":0.60178,"score":7.546}},"polyphen2":{"hdiv":{"pred":["D","D","D"],"rankscore":0.67487,"score":[0.995,0.995,0.995]},"hvar":{"pred":["P","P","P"],"rankscore":0.54226,"score":[0.702,0.702,0.702]}},"primateai":{"pred":"T","rankscore":0.36717,"score":0.484792649746},"provean":{"converted_rankscore":0.66665,"pred":["D","D","D","D","D"],"score":[-2.86,-2.86,-2.86,-3.37,-3.37]},"ref":"C","reliability_index":10,"revel":{"rankscore":0.41843,"score":[0.162,0.162,0.162,0.162,0.162]},"sift":{"converted_rankscore":0.58626,"pred":["D","D","D","T","T"],"score":[0.008,0.008,0.008,0.129,0.129]},"sift4g":{"converted_rankscore":0.65728,"pred":["D","D","D","D","D"],"score":[0.01,0.01,0.01,0.011,0.011]},"siphy_29way":{"logodds_rankscore":0.91578,"logodds_score":18.6999,"pi":{"a":0.0,"c":1.0,"g":0.0,"t":0.0}},"tsl":[1,1,1,2,1],"uniprot":[{"acc":"Q2YD98","entry":"UVSSA_HUMAN"},{"acc":"Q2YD98","entry":"UVSSA_HUMAN"},{"acc":"Q2YD98","entry":"UVSSA_HUMAN"},{"acc":"Q2YD98-2","entry":"UVSSA_HUMAN"},{"acc":"Q2YD98-2","entry":"UVSSA_HUMAN"}],"varity":{"er":{"rankscore":0.44801,"score":[0.20604269,0.20604269,0.20604269]},"er_loo":{"rankscore":0.448,"score":[0.20604269,0.20604269,0.20604269]},"r":{"rankscore":0.47502,"score":[0.24543364,0.24543364,0.24543364]},"r_loo":{"rankscore":0.47502,"score":[0.24543364,0.24543364,0.24543364]}},"vep_canonical":"YES","vest4":{"rankscore":0.45898,"score":[0.355,0.337,0.419,0.302,0.282]},"vindijia_neandertal":["C","C"]},"hg19":{"end":1379661,"start":1379661},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"4564","position":"2388"},"cds":{"length":"2130","position":"2042"},"effect":"missense_variant","feature_id":"NM_001317934.1","feature_type":"transcript","gene_id":"UVSSA","genename":"UVSSA","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"709","position":"681"},"putative_impact":"MODERATE","rank":"14","total":"14","transcript_biotype":"protein_coding"},{"cdna":{"length":"4665","position":"2489"},"cds":{"length":"2130","position":"2042"},"effect":"missense_variant","feature_id":"NM_020894.3","feature_type":"transcript","gene_id":"UVSSA","genename":"UVSSA","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"709","position":"681"},"putative_impact":"MODERATE","rank":"14","total":"14","transcript_biotype":"protein_coding"},{"cdna":{"length":"4552","position":"2376"},"cds":{"length":"2130","position":"2042"},"effect":"missense_variant","feature_id":"NM_001317935.1","feature_type":"transcript","gene_id":"UVSSA","genename":"UVSSA","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"709","position":"681"},"putative_impact":"MODERATE","rank":"14","total":"14","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"T","position":"1379661","ref":"C"}},{"_id":"chr20:g.34241203G>A","_score":17.668919,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"A","anc":"G","annotype":"CodingTranscript","bstatistic":104,"chmm":{"bivflnk":0.0,"enh":0.173,"enhbiv":0.0,"het":0.0,"quies":0.008,"reprpc":0.0,"reprpcwk":0.0,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.717,"txflnk":0.0,"txwk":0.087,"znfrpts":0.0},"chrom":20,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.04,"dna":{"helt":-2.2,"mgw":0.35,"prot":1.46,"roll":-0.15},"encode":{"exp":506.33,"h3k27ac":8.12,"h3k4me1":6.08,"h3k4me3":4.0,"nucleo":1.6,"occ":4,"p_val":{"comb":0.29,"ctcf":0.0,"dnas":0.71,"faire":0.0,"mycp":1.66,"polii":1.91},"sig":{"ctcf":0.05,"dnase":0.02,"faire":0.01,"myc":0.09,"polii":0.04}},"exon":"3/3","fitcons":0.671935,"gc":0.62,"gene":{"ccds_id":"CCDS13261.1","cds":{"cdna_pos":2306,"cds_pos":2042,"rel_cdna_pos":0.35,"rel_cds_pos":0.73},"feature_id":"ENST00000374114","gene_id":"ENSG00000244462","genename":"RBM12","prot":{"domain":"ndomain","protpos":681,"rel_prot_pos":0.73}},"gerp":{"n":3.84,"s":2.89},"grantham":64,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":2955,"min_dist_tss":397,"mutindex":74,"naa":"V","oaa":"A","phast_cons":{"mammalian":0.595,"primate":0.01,"vertebrate":0.653},"phred":13.43,"phylop":{"mammalian":1.182,"primate":-0.318,"vertebrate":0.573},"polyphen":{"cat":"benign","val":0.094},"pos":34241203,"rawscore":1.522816,"ref":"G","segway":"GE2","sift":{"cat":"tolerated","val":0.11},"type":"SNV"},"chrom":"20","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"V","codon_degeneracy":[0,0,0],"codonpos":[2,2,2],"pos":[681,681,681],"ref":"A","refcodon":["GCA","GCA","GCA"]},"alphamissense":{"pred":["B","B"],"rankscore":0.198,"score":[0.1064,0.1001]},"alt":"A","altai_neandertal":["G","G"],"ancestral_allele":"G","appris":["principal1","principal1","principal1"],"bayesdel":{"add_af":{"pred":"T","rankscore":0.1052,"score":-0.281396},"no_af":{"pred":"T","rankscore":0.09525,"score":-0.641983}},"bstatistic":{"converted_rankscore":0.84979,"score":359.0},"chagyrskaya_neandertal":["G","G"],"chrom":"20","clinpred":{"pred":"T","rankscore":0.12679,"score":0.102950378442767},"dann":{"rankscore":0.38522,"score":0.9813125769390064},"denisova":["G","G"],"deogen2":{"pred":["T","T","T"],"rankscore":0.44826,"score":[0.123713,0.123713,0.123713]},"eigen":{"phred_coding":0.3167667,"raw_coding":-1.08844772711024,"raw_coding_rankscore":0.06855},"eigen-pc":{"phred_coding":0.4644623,"raw_coding":-1.01997575838542,"raw_coding_rankscore":0.09346},"ensembl":{"geneid":["ENSG00000244462","ENSG00000244462","ENSG00000244462"],"proteinid":["ENSP00000363228","ENSP00000352668","ENSP00000363217"],"transcriptid":["ENST00000374114","ENST00000359646","ENST00000374104"]},"esm1b":{"pred":["T","T","T"],"rankscore":0.2573,"score":[-4.13,-4.13,-4.13]},"fathmm":{"converted_rankscore":0.16217,"pred":["T","T","T"],"score":[2.35,2.35,2.35]},"fathmm-mkl":{"coding_group":"AEFDGBHCI","coding_pred":"N","coding_rankscore":0.21971,"coding_score":0.23118},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.26816,"coding_score":0.145046},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.68747,"score":0.697927},"h1-hesc":{"confidence_value":0,"rankscore":0.68683,"score":0.702456},"huvec":{"confidence_value":0,"rankscore":0.71501,"score":0.711},"integrated":{"confidence_value":0,"rankscore":0.52595,"score":0.67177}},"gencode_basic":["Y","Y","Y"],"genename":["RBM12","RBM12","RBM12"],"genocanyon":{"rankscore":0.74766,"score":0.999999857721989},"gerp":{"91_mammals":{"rankscore":0.23157,"score":0.234}},"gerp++":{"nr":3.84,"rs":2.89,"rs_rankscore":0.32713},"gmvp":{"rankscore":0.43111,"score":0.4319440572106059},"hg18":{"end":33704617,"start":33704617},"hg19":{"end":34241203,"start":34241203},"hg38":{"end":35653281,"start":35653281},"hgvsc":"c.2042C>T","hgvsp":["p.Ala681Val","p.A681V"],"list-s2":{"pred":"T","rankscore":0.34027,"score":0.725927},"lrt":{"converted_rankscore":0.1783,"omega":0.411376,"pred":"N","score":0.155445},"m-cap":{"pred":"T","rankscore":0.22829,"score":0.008638},"metalr":{"pred":"T","rankscore":0.08546,"score":0.0203},"metarnn":{"pred":["T","T","T"],"rankscore":0.09678,"score":[0.06843504,0.06843504,0.06843504]},"metasvm":{"pred":"T","rankscore":0.19937,"score":-1.0316},"mpc":{"rankscore":0.26601,"score":0.240604551926},"mutationassessor":{"pred":["N","N","N"],"rankscore":0.06538,"score":[0.0,0.0,0.0]},"mutationtaster":{"aae":["A681V","A681V","A681V"],"converted_rankscore":0.58761,"model":["without_aae","without_aae","without_aae","without_aae","without_aae","without_aae","without_aae","simple_aae","simple_aae","simple_aae"],"pred":["D","D","D","D","D","D","D","N","N","N"],"score":[0.999999,0.999999,0.999999,0.999999,0.999999,0.999999,0.999999,0.999922,0.999922,0.999922]},"mutformer":{"rankscore":0.22406,"score":0.00190484},"mutpred":{"aa_change":["A681V","A681V","A681V"],"accession":["Q9NTZ6","Q9NTZ6","Q9NTZ6"],"pred":[{"mechanism":"Loss of relative solvent accessibility","p_val":0.0186},{"mechanism":"Loss of relative solvent accessibility","p_val":0.0186},{"mechanism":"Loss of relative solvent accessibility","p_val":0.0186}],"rankscore":0.13498,"score":[0.215,0.215,0.215]},"mvp":{"rankscore":0.28143,"score":[0.285316908763,0.285316908763,0.285316908763]},"phactboost":{"rankscore":0.29024,"score":[0.0190444742229512,0.0190444742229512,0.0190444742229512]},"phastcons":{"100way_vertebrate":{"rankscore":0.06391,"score":0.0},"17way_primate":{"rankscore":0.09038,"score":0.01},"470way_mammalian":{"rankscore":0.24568,"score":0.371}},"phylop":{"100way_vertebrate":{"rankscore":0.11483,"score":-0.07},"17way_primate":{"rankscore":0.06345,"score":-0.286},"470way_mammalian":{"rankscore":0.13247,"score":0.0}},"polyphen2":{"hdiv":{"pred":["B","B","B"],"rankscore":0.18885,"score":[0.023,0.023,0.023]},"hvar":{"pred":["B","B","B"],"rankscore":0.11217,"score":[0.005,0.005,0.005]}},"primateai":{"pred":"T","rankscore":0.32037,"score":0.45068025589},"provean":{"converted_rankscore":0.12661,"pred":["N","N","N"],"score":[-0.34,-0.34,-0.34]},"ref":"G","reliability_index":10,"revel":{"rankscore":0.07369,"score":[0.031,0.031,0.031]},"sift":{"converted_rankscore":0.45039,"pred":["D","D","D"],"score":[0.031,0.031,0.031]},"sift4g":{"converted_rankscore":0.06406,"pred":["T","T","T"],"score":[0.665,0.665,0.665]},"siphy_29way":{"logodds_rankscore":0.49662,"logodds_score":11.4967,"pi":{"a":0.0,"c":0.8055,"g":0.1945,"t":0.0}},"tsl":[1,1,1],"uniprot":[{"acc":"Q9NTZ6","entry":"RBM12_HUMAN"},{"acc":"Q9NTZ6","entry":"RBM12_HUMAN"},{"acc":"Q9NTZ6","entry":"RBM12_HUMAN"}],"varity":{"er":{"rankscore":0.10949,"score":[0.05886039,0.05886039,0.05886039]},"er_loo":{"rankscore":0.10948,"score":[0.05886039,0.05886039,0.05886039]},"r":{"rankscore":0.04459,"score":[0.03636495,0.03636495,0.03636495]},"r_loo":{"rankscore":0.04459,"score":[0.03636495,0.03636495,0.03636495]}},"vep_canonical":"YES","vest4":{"rankscore":0.05799,"score":[0.082,0.078,0.078]},"vindijia_neandertal":["G","G"]},"hg19":{"end":34241203,"start":34241203},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"6660","position":"2304"},"cds":{"length":"2799","position":"2042"},"effect":"missense_variant","feature_id":"NM_001198838.1","feature_type":"transcript","gene_id":"RBM12","genename":"RBM12","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"932","position":"681"},"putative_impact":"MODERATE","rank":"3","total":"3","transcript_biotype":"protein_coding"},{"cdna":{"length":"6617","position":"2261"},"cds":{"length":"2799","position":"2042"},"effect":"missense_variant","feature_id":"NM_001198840.1","feature_type":"transcript","gene_id":"RBM12","genename":"RBM12","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"932","position":"681"},"putative_impact":"MODERATE","rank":"2","total":"2","transcript_biotype":"protein_coding"},{"cdna":{"length":"6702","position":"2346"},"cds":{"length":"2799","position":"2042"},"effect":"missense_variant","feature_id":"NM_006047.5","feature_type":"transcript","gene_id":"RBM12","genename":"RBM12","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"932","position":"681"},"putative_impact":"MODERATE","rank":"3","total":"3","transcript_biotype":"protein_coding"},{"cdna":{"length":"6670","position":"2314"},"cds":{"length":"2799","position":"2042"},"effect":"missense_variant","feature_id":"NM_152838.3","feature_type":"transcript","gene_id":"RBM12","genename":"RBM12","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"932","position":"681"},"putative_impact":"MODERATE","rank":"3","total":"3","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_003915.5","feature_type":"transcript","gene_id":"CPNE1","genename":"CPNE1","hgvs_c":"c.15+247C>T","putative_impact":"MODIFIER","rank":"1","total":"15","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NR_037188.1","feature_type":"transcript","gene_id":"CPNE1","genename":"CPNE1","hgvs_c":"n.374+1921C>T","putative_impact":"MODIFIER","rank":"3","total":"17","transcript_biotype":"pseudogene"},{"effect":"intron_variant","feature_id":"NM_001198863.1","feature_type":"transcript","gene_id":"CPNE1","genename":"CPNE1","hgvs_c":"c.-1+11521C>T","putative_impact":"MODIFIER","rank":"1","total":"15","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_152925.2","feature_type":"transcript","gene_id":"CPNE1","genename":"CPNE1","hgvs_c":"c.-1+11479C>T","putative_impact":"MODIFIER","rank":"1","total":"15","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_152926.2","feature_type":"transcript","gene_id":"CPNE1","genename":"CPNE1","hgvs_c":"c.-1+11521C>T","putative_impact":"MODIFIER","rank":"1","total":"15","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_152927.2","feature_type":"transcript","gene_id":"CPNE1","genename":"CPNE1","hgvs_c":"c.-1+5649C>T","putative_impact":"MODIFIER","rank":"2","total":"16","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_152928.2","feature_type":"transcript","gene_id":"CPNE1","genename":"CPNE1","hgvs_c":"c.-1+5649C>T","putative_impact":"MODIFIER","rank":"2","total":"16","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"A","position":"34241203","ref":"G"}},{"_id":"chr18:g.72345017C>T","_score":17.597134,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"T","anc":"C","annotype":"CodingTranscript","bstatistic":593,"chmm":{"bivflnk":0.0,"enh":0.024,"enhbiv":0.0,"het":0.0,"quies":0.094,"reprpc":0.0,"reprpcwk":0.0,"tssa":0.0,"tssaflnk":0.008,"tssbiv":0.0,"tx":0.354,"txflnk":0.0,"txwk":0.409,"znfrpts":0.0},"chrom":18,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.01,"dna":{"helt":1.42,"mgw":-0.18,"prot":-1.82,"roll":-0.29},"encode":{"exp":23.99,"h3k27ac":4.36,"h3k4me1":2.08,"h3k4me3":3.6,"nucleo":1.3},"exon":"1/8","fitcons":0.666978,"gc":0.42,"gene":{"ccds_id":"CCDS45885.1","cds":{"cdna_pos":2042,"cds_pos":2042,"rel_cdna_pos":0.26,"rel_cds_pos":0.3},"feature_id":"ENST00000299687","gene_id":"ENSG00000215421","genename":"ZNF407","prot":{"domain":"ndomain","protpos":681,"rel_prot_pos":0.3}},"gerp":{"n":5.76,"rs":2849.8,"rs_pval":8.91688e-308,"s":1.96},"grantham":64,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":171564,"min_dist_tss":2041,"mutindex":-25,"naa":"V","oaa":"A","phast_cons":{"mammalian":0.001,"primate":0.225,"vertebrate":0.0},"phred":0.277,"phylop":{"mammalian":0.346,"primate":-0.471,"vertebrate":0.574},"polyphen":{"cat":"benign","val":0.001},"pos":72345017,"rawscore":-0.459308,"ref":"C","segway":"GE0","sift":{"cat":"tolerated","val":0.28},"type":"SNV"},"chrom":"18","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"V","codon_degeneracy":[0,0,0,0],"codonpos":[2,2,2,2],"pos":[681,681,681,681],"ref":"A","refcodon":["GCA","GCA","GCA","GCA"]},"alphamissense":{"pred":["B","B","B"],"rankscore":0.0671,"score":[0.0694,0.0771,0.0777]},"alt":"T","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":["alternative2","principal3"],"bayesdel":{"add_af":{"pred":"T","rankscore":0.07451,"score":-0.313411},"no_af":{"pred":"T","rankscore":0.06507,"score":-0.687969}},"bstatistic":{"converted_rankscore":0.54327,"score":730.0},"cds_strand":["+","+","+","+"],"chagyrskaya_neandertal":["C","C"],"chrom":"18","clinpred":{"pred":"T","rankscore":0.01901,"score":0.0294254124164581},"dann":{"rankscore":0.22315,"score":0.927941708762745},"denisova":["C","C"],"deogen2":{"pred":"T","rankscore":0.16617,"score":0.021312},"eigen":{"phred_coding":0.3648189,"raw_coding":-1.03801502726684,"raw_coding_rankscore":0.07825},"eigen-pc":{"phred_coding":0.4199624,"raw_coding":-1.05842290763484,"raw_coding_rankscore":0.08532},"ensembl":{"geneid":["ENSG00000215421","ENSG00000215421","ENSG00000215421","ENSG00000215421"],"proteinid":["ENSP00000462348","ENSP00000310359","ENSP00000463270","ENSP00000299687"],"transcriptid":["ENST00000582337","ENST00000309902","ENST00000577538","ENST00000299687"]},"esm1b":{"pred":["T","T","T","T"],"rankscore":0.13596,"score":[-3.275,-3.275,-3.289,-3.237]},"fathmm":{"converted_rankscore":0.09822,"pred":["T","T","T","T"],"score":[3.39,3.39,2.93,2.94]},"fathmm-mkl":{"coding_group":"AEFGBI","coding_pred":"N","coding_rankscore":0.17996,"coding_score":0.13687},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.08368,"coding_score":0.048809},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.12157,"score":0.546412},"h1-hesc":{"confidence_value":0,"rankscore":0.34648,"score":0.602189},"huvec":{"confidence_value":0,"rankscore":0.67416,"score":0.683762},"integrated":{"confidence_value":0,"rankscore":0.46895,"score":0.6512}},"gencode_basic":["Y","Y","Y","Y"],"genename":["ZNF407","ZNF407","ZNF407","ZNF407"],"genocanyon":{"rankscore":0.47345,"score":0.99994421178111},"gerp":{"91_mammals":{"rankscore":0.53729,"score":2.94}},"gerp++":{"nr":5.76,"rs":1.96,"rs_rankscore":0.25203},"gmvp":{"rankscore":0.21372,"score":0.2145641606679811},"hg18":{"end":70474005,"start":70474005},"hg19":{"end":72345017,"start":72345017},"hg38":{"end":74633061,"start":74633061},"hgvsc":"c.2042C>T","hgvsp":["p.Ala681Val","p.A681V"],"list-s2":{"pred":["T","T","T"],"rankscore":0.25562,"score":[0.644036,0.644036,0.644036]},"lrt":{"converted_rankscore":0.08876,"omega":0.882556,"pred":"U","score":0.863635},"m-cap":{"pred":"T","rankscore":0.20272,"score":0.007641},"metalr":{"pred":"T","rankscore":0.12234,"score":0.0285},"metarnn":{"pred":["T","T","T","T"],"rankscore":0.02845,"score":[0.041677624,0.041677624,0.041677624,0.041677624]},"metasvm":{"pred":"T","rankscore":0.3753,"score":-0.9684},"mpc":{"rankscore":0.09537,"score":0.0843968252718},"mutationassessor":{"pred":["L","L","L","L"],"rankscore":0.40776,"score":[1.6,1.6,1.6,1.6]},"mutationtaster":{"aae":["A681V","A681V","A681V","A681V"],"converted_rankscore":0.08975,"model":["simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["N","N","N","N"],"score":[1.0,1.0,1.0,1.0]},"mutformer":{"rankscore":0.27717,"score":0.00306579},"mutpred":{"aa_change":["A681V","A681V","A681V","A681V"],"accession":["Q9C0G0","Q9C0G0","Q9C0G0","Q9C0G0"],"pred":[{"mechanism":"Gain of methylation at K680","p_val":0.0409},{"mechanism":"Gain of methylation at K680","p_val":0.0409},{"mechanism":"Gain of methylation at K680","p_val":0.0409},{"mechanism":"Gain of methylation at K680","p_val":0.0409}],"rankscore":0.08014,"score":[0.174,0.174,0.174,0.174]},"mvp":{"rankscore":0.08844,"score":[0.0934897674506,0.0934897674506,0.0934897674506,0.0934897674506]},"phactboost":{"rankscore":0.14718,"score":0.00266851019132628},"phastcons":{"100way_vertebrate":{"rankscore":0.06391,"score":0.0},"17way_primate":{"rankscore":0.35611,"score":0.745},"470way_mammalian":{"rankscore":0.08366,"score":0.0}},"phylop":{"100way_vertebrate":{"rankscore":0.192,"score":0.315},"17way_primate":{"rankscore":0.06809,"score":-0.266},"470way_mammalian":{"rankscore":0.18199,"score":0.419}},"polyphen2":{"hdiv":{"pred":["B","B","B","B"],"rankscore":0.07471,"score":[0.001,0.001,0.001,0.001]},"hvar":{"pred":["B","B","B","B"],"rankscore":0.1009,"score":[0.004,0.004,0.003,0.001]}},"primateai":{"pred":"T","rankscore":0.03973,"score":0.251928448677},"provean":{"converted_rankscore":0.18248,"pred":["N","N"],"score":[-0.62,-0.54]},"ref":"C","reliability_index":10,"revel":{"rankscore":0.04004,"score":[0.021,0.021]},"sift":{"converted_rankscore":0.32769,"pred":["T","T"],"score":[0.099,0.085]},"sift4g":{"converted_rankscore":0.02478,"pred":["T","T","T","T"],"score":[0.971,0.971,1.0,1.0]},"siphy_29way":{"logodds_rankscore":0.15221,"logodds_score":5.3274,"pi":{"a":0.0,"c":0.571,"g":0.138,"t":0.291}},"tsl":[5,2,2,1],"uniprot":[{"acc":"Q9C0G0-3","entry":"ZN407_HUMAN"},{"acc":"Q9C0G0-3","entry":"ZN407_HUMAN"},{"acc":"Q9C0G0-2","entry":"ZN407_HUMAN"},{"acc":"Q9C0G0","entry":"ZN407_HUMAN"}],"varity":{"er":{"rankscore":0.03456,"score":0.037632268},"er_loo":{"rankscore":0.03456,"score":0.037632268},"r":{"rankscore":0.02641,"score":0.03019522},"r_loo":{"rankscore":0.02641,"score":0.03019522}},"vep_canonical":"YES","vest4":{"rankscore":0.04913,"score":[0.075,0.035,0.052,0.058]},"vindijia_neandertal":["C","C"]},"hg19":{"end":72345017,"start":72345017},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"8008","position":"2099"},"cds":{"length":"6747","position":"2042"},"effect":"missense_variant","feature_id":"NM_017757.2","feature_type":"transcript","gene_id":"ZNF407","genename":"ZNF407","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"2248","position":"681"},"putative_impact":"MODERATE","rank":"1","total":"8","transcript_biotype":"protein_coding"},{"cdna":{"length":"5598","position":"2099"},"cds":{"length":"4983","position":"2042"},"effect":"missense_variant","feature_id":"NM_001146190.1","feature_type":"transcript","gene_id":"ZNF407","genename":"ZNF407","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"1660","position":"681"},"putative_impact":"MODERATE","rank":"1","total":"4","transcript_biotype":"protein_coding"},{"cdna":{"length":"5850","position":"2099"},"cds":{"length":"5448","position":"2042"},"effect":"missense_variant","feature_id":"NM_001146189.1","feature_type":"transcript","gene_id":"ZNF407","genename":"ZNF407","hgvs_c":"c.2042C>T","hgvs_p":"p.Ala681Val","protein":{"length":"1815","position":"681"},"putative_impact":"MODERATE","rank":"1","total":"7","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"T","position":"72345017","ref":"C"}}]}