{"_id":"chr10:g.96058236T>G","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"G","anc":"T","annotype":"CodingTranscript","bstatistic":401,"chmm":{"bivflnk":0.0,"enh":0.0,"enhbiv":0.008,"het":0.0,"quies":0.346,"reprpc":0.071,"reprpcwk":0.22,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.118,"txflnk":0.0,"txwk":0.228,"znfrpts":0.0},"chrom":10,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.09,"dna":{"helt":-1.1,"mgw":0.05,"prot":1.49,"roll":1.35},"encode":{"exp":26.66,"h3k27ac":3.0,"h3k4me1":6.6,"h3k4me3":5.0,"nucleo":1.0},"exon":"23/32","fitcons":0.497099,"gc":0.5,"gene":{"ccds_id":"CCDS41552.1","cds":{"cdna_pos":5503,"cds_pos":5268,"rel_cdna_pos":0.46,"rel_cds_pos":0.76},"feature_id":"ENST00000371380","gene_id":"ENSG00000138193","genename":"PLCE1","prot":{"domain":"ndomain","protpos":1756,"rel_prot_pos":0.76}},"gerp":{"n":5.6,"rs":1061.5,"rs_pval":8.23161e-171,"s":-4.71},"grantham":24,"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":27131,"min_dist_tss":209384,"mutindex":-24,"naa":"Q","oaa":"H","phast_cons":{"mammalian":0.97,"primate":0.995,"vertebrate":0.987},"phred":21.6,"phylop":{"mammalian":-0.807,"primate":0.53,"vertebrate":-0.022},"polyphen":{"cat":"probably_damaging","val":1},"pos":96058236,"rawscore":2.848687,"ref":"T","segway":"R5","sift":{"cat":"tolerated","val":0.49},"type":"SNV"},"chrom":"10","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"Q","codon_degeneracy":[2,2,2],"codonpos":[3,3,3],"pos":[1756,1448,1448],"ref":"H","refcodon":["CAT","CAT","CAT"]},"alphamissense":{"pred":["P","P"],"rankscore":0.8222,"score":[0.892,0.8317]},"alt":"G","altai_neandertal":["T","T"],"ancestral_allele":"T","appris":["principal3","alternative2","alternative2"],"bayesdel":{"add_af":{"pred":"D","rankscore":0.74158,"score":0.202846},"no_af":{"pred":"D","rankscore":0.73822,"score":0.0535974}},"bstatistic":{"converted_rankscore":0.84213,"score":372.0},"cds_strand":["+","+","+"],"chagyrskaya_neandertal":["T","T"],"chrom":"10","clinpred":{"pred":"D","rankscore":0.39965,"score":0.683870077133179},"dann":{"rankscore":0.33875,"score":0.9742084839899258},"denisova":["T","T"],"deogen2":{"pred":"T","rankscore":0.47127,"score":0.138009},"eigen":{"phred_coding":1.998116,"raw_coding":-0.157831161114197,"raw_coding_rankscore":0.34902},"eigen-pc":{"phred_coding":1.674952,"raw_coding":-0.248081511060799,"raw_coding_rankscore":0.29838},"ensembl":{"geneid":["ENSG00000138193","ENSG00000138193","ENSG00000138193"],"proteinid":["ENSP00000360431","ENSP00000360438","ENSP00000360426"],"transcriptid":["ENST00000371380","ENST00000371385","ENST00000371375"]},"esm1b":{"pred":["T","T","T"],"rankscore":0.46637,"score":[-5.971,-6.043,-6.043]},"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":"U","class90_pred":"U","rankscore":0.53439,"score":0.4504947577010054},"fathmm":{"converted_rankscore":0.66652,"pred":["T","T","T"],"score":[-0.23,-0.23,-0.23]},"fathmm-mkl":{"coding_group":"AEFDBI","coding_pred":"D","coding_rankscore":0.46847,"coding_score":0.87338},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.52855,"coding_score":0.491528},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.19063,"score":0.563428},"h1-hesc":{"confidence_value":0,"rankscore":0.23631,"score":0.573888},"huvec":{"confidence_value":0,"rankscore":0.07155,"score":0.478617},"integrated":{"confidence_value":0,"rankscore":0.14033,"score":0.487112}},"gencode_basic":["Y","Y","Y"],"genename":["PLCE1","PLCE1","PLCE1"],"genocanyon":{"rankscore":0.08194,"score":0.00107804139578868},"gerp":{"91_mammals":{"rankscore":0.06641,"score":-3.82}},"gerp++":{"nr":5.6,"rs":-4.71,"rs_rankscore":0.03042},"gmvp":{"rankscore":0.86146,"score":0.861829633960671},"hg18":{"end":96048226,"start":96048226},"hg19":{"end":96058236,"start":96058236},"hg38":{"end":94298479,"start":94298479},"hgvsc":["c.4344T>G","c.5268T>G"],"hgvsp":["p.His1756Gln","p.H1448Q","p.H1756Q","p.His1448Gln"],"interpro":{"domain":"Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain|Phospholipase C, phosphatidylinositol-specific, Y domain"},"list-s2":{"pred":["D","D"],"rankscore":0.653,"score":[0.90021,0.90021]},"lrt":{"converted_rankscore":0.62929,"omega":0.102571,"pred":"D","score":3e-6},"m-cap":{"pred":"D","rankscore":0.58629,"score":0.039122},"metalr":{"pred":"T","rankscore":0.65919,"score":0.2874},"metarnn":{"pred":["D","D","D"],"rankscore":0.74997,"score":[0.74162173,0.74162173,0.74162173]},"metasvm":{"pred":"T","rankscore":0.70717,"score":-0.4404},"mpc":{"rankscore":0.84342,"score":1.36121493711},"mutationassessor":{"pred":"N","rankscore":0.09762,"score":0.25},"mutationtaster":{"aae":["H1756Q","H1448Q","H1756Q","H1448Q"],"converted_rankscore":0.3874,"model":["simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["D","D","D","D"],"score":[0.969615,0.960796,0.969615,0.960796]},"mutformer":{"rankscore":0.82962,"score":0.5473758},"mutpred":{"aa_change":"H1756Q","accession":"Q9P212","pred":{"mechanism":"Gain of disorder","p_val":0.0553},"rankscore":0.53891,"score":0.467},"mvp":{"rankscore":0.69207,"score":[0.694704258811,0.694704258811,0.694704258811]},"phactboost":{"rankscore":0.73796,"score":0.863536023288962},"phastcons":{"100way_vertebrate":{"rankscore":0.3938,"score":0.996},"17way_primate":{"rankscore":0.91618,"score":0.999},"470way_mammalian":{"rankscore":0.31174,"score":0.989}},"phylop":{"100way_vertebrate":{"rankscore":0.20673,"score":0.401},"17way_primate":{"rankscore":0.62972,"score":0.665},"470way_mammalian":{"rankscore":0.15349,"score":0.156}},"polyphen2":{"hdiv":{"pred":["D","D","D"],"rankscore":0.90584,"score":[0.961,1.0,1.0]},"hvar":{"pred":["D","D","D"],"rankscore":0.86255,"score":[0.912,0.997,0.997]}},"primateai":{"pred":"D","rankscore":0.90243,"score":0.854173898697},"provean":{"converted_rankscore":0.3014,"pred":["N","N","N"],"score":[-0.83,-1.18,-1.18]},"ref":"T","reliability_index":10,"revel":{"rankscore":0.71401,"score":[0.4,0.4,0.4]},"sift":{"converted_rankscore":0.05551,"pred":["T","T","T"],"score":[0.605,0.872,0.872]},"sift4g":{"converted_rankscore":0.09655,"pred":["T","T","T"],"score":[0.543,0.666,0.666]},"siphy_29way":{"logodds_rankscore":0.69966,"logodds_score":14.8552,"pi":{"a":0.0,"c":0.4584,"g":0.0,"t":0.5416}},"tsl":[1,5,1],"uniprot":[{"acc":"Q9P212","entry":"PLCE1_HUMAN"},{"acc":"Q9P212-2","entry":"PLCE1_HUMAN"},{"acc":"Q9P212-2","entry":"PLCE1_HUMAN"}],"varity":{"er":{"rankscore":0.34441,"score":0.14517505},"er_loo":{"rankscore":0.3444,"score":0.14517505},"r":{"rankscore":0.34605,"score":0.15244573},"r_loo":{"rankscore":0.34604,"score":0.15244573}},"vep_canonical":"YES","vest4":{"rankscore":0.91968,"score":[0.869,0.917,0.9]},"vindijia_neandertal":["T","T"]},"hg19":{"end":96058236,"start":96058236},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"7991","position":"5902"},"cds":{"length":"6909","position":"5268"},"effect":"missense_variant","feature_id":"NM_016341.3","feature_type":"transcript","gene_id":"PLCE1","genename":"PLCE1","hgvs_c":"c.5268T>G","hgvs_p":"p.His1756Gln","protein":{"length":"2302","position":"1756"},"putative_impact":"MODERATE","rank":"24","total":"33","transcript_biotype":"protein_coding"},{"cdna":{"length":"7943","position":"5854"},"cds":{"length":"6861","position":"5220"},"effect":"missense_variant","feature_id":"NM_001288989.1","feature_type":"transcript","gene_id":"PLCE1","genename":"PLCE1","hgvs_c":"c.5220T>G","hgvs_p":"p.His1740Gln","protein":{"length":"2286","position":"1740"},"putative_impact":"MODERATE","rank":"24","total":"33","transcript_biotype":"protein_coding"},{"cdna":{"length":"6502","position":"4413"},"cds":{"length":"5985","position":"4344"},"effect":"missense_variant","feature_id":"NM_001165979.2","feature_type":"transcript","gene_id":"PLCE1","genename":"PLCE1","hgvs_c":"c.4344T>G","hgvs_p":"p.His1448Gln","protein":{"length":"1994","position":"1448"},"putative_impact":"MODERATE","rank":"23","total":"32","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"G","position":"96058236","ref":"T"}}