{"_id":"chr10:g.96058234C>T","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"T","anc":"C","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":1.53,"mgw":-0.18,"prot":-1.82,"roll":-0.28},"encode":{"exp":26.12,"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":5501,"cds_pos":5266,"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":5.6},"grantham":83,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":27133,"min_dist_tss":209382,"mutindex":-68,"naa":"Y","oaa":"H","phast_cons":{"mammalian":0.999,"primate":0.992,"vertebrate":1.0},"phred":28.2,"phylop":{"mammalian":2.647,"primate":0.651,"vertebrate":6.047},"polyphen":{"cat":"probably_damaging","val":1},"pos":96058234,"rawscore":6.095975,"ref":"C","segway":"R5","sift":{"cat":"deleterious","val":0.03},"type":"SNV"},"chrom":"10","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"Y","codon_degeneracy":[0,0,0],"codonpos":[1,1,1],"pos":[1756,1448,1448],"ref":"H","refcodon":["CAT","CAT","CAT"]},"alphamissense":{"pred":["P","P"],"rankscore":0.73708,"score":[0.7181,0.6057]},"alt":"T","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":["principal3","alternative2","alternative2"],"bayesdel":{"add_af":{"pred":"D","rankscore":0.84197,"score":0.31616},"no_af":{"pred":"D","rankscore":0.83991,"score":0.216365}},"bstatistic":{"converted_rankscore":0.84213,"score":372.0},"cds_strand":["+","+","+"],"chagyrskaya_neandertal":["C","C"],"chrom":"10","clinpred":{"pred":"D","rankscore":0.72933,"score":0.97963273525238},"dann":{"rankscore":0.92489,"score":0.9984494432825043},"denisova":["C","C"],"deogen2":{"pred":"D","rankscore":0.90861,"score":0.686914},"eigen":{"phred_coding":9.767058,"raw_coding":0.846863035111394,"raw_coding_rankscore":0.8893},"eigen-pc":{"phred_coding":11.34429,"raw_coding":0.837968388411763,"raw_coding_rankscore":0.92295},"ensembl":{"geneid":["ENSG00000138193","ENSG00000138193","ENSG00000138193"],"proteinid":["ENSP00000360431","ENSP00000360438","ENSP00000360426"],"transcriptid":["ENST00000371380","ENST00000371385","ENST00000371375"]},"esm1b":{"pred":["D","D","D"],"rankscore":0.70815,"score":[-9.412,-9.493,-9.493]},"eve":{"class10_pred":"U","class20_pred":"U","class25_pred":"U","class30_pred":"U","class40_pred":"U","class50_pred":"U","class60_pred":"U","class70_pred":"P","class75_pred":"P","class80_pred":"P","class90_pred":"P","rankscore":0.78249,"score":0.7032381445397359},"fathmm":{"converted_rankscore":0.68329,"pred":["T","T","T"],"score":[-0.33,-0.33,-0.33]},"fathmm-mkl":{"coding_group":"AEFDBI","coding_pred":"D","coding_rankscore":0.84076,"coding_score":0.98558},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.94895,"coding_score":0.943293},"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":0.74766,"score":0.999999997364476},"gerp++":{"nr":5.6,"rs":5.6,"rs_rankscore":0.84997},"gmvp":{"rankscore":0.87871,"score":0.8790476547473864},"hg18":{"end":96048224,"start":96048224},"hg19":{"end":96058234,"start":96058234},"hg38":{"end":94298477,"start":94298477},"hgvsc":["c.5266C>T","c.4342C>T"],"hgvsp":["p.H1756Y","p.His1756Tyr","p.His1448Tyr","p.H1448Y"],"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":0.83719,"score":[0.957004,0.957004]},"lrt":{"converted_rankscore":0.62929,"omega":0.102571,"pred":"D","score":3e-6},"m-cap":{"pred":"D","rankscore":0.66067,"score":0.054992},"metalr":{"pred":"T","rankscore":0.804,"score":0.4857},"metarnn":{"pred":["D","D","D"],"rankscore":0.85739,"score":[0.8650068,0.8650068,0.8650068]},"metasvm":{"pred":"T","rankscore":0.81426,"score":-0.0396},"mpc":{"rankscore":0.86419,"score":1.46402968978},"mutationassessor":{"pred":"M","rankscore":0.52218,"score":1.94},"mutationtaster":{"aae":["H1756Y","H1448Y","H1756Y","H1448Y"],"converted_rankscore":0.58761,"model":["simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["D","D","D","D"],"score":[0.999998,0.999998,0.999998,0.999998]},"mutformer":{"rankscore":0.92549,"score":0.93283457},"mutpred":{"aa_change":"H1756Y","accession":"Q9P212","pred":{"mechanism":"Gain of sheet","p_val":0.0477},"rankscore":0.5977,"score":0.504},"mvp":{"rankscore":0.91141,"score":[0.912289406352,0.912289406352,0.912289406352]},"phactboost":{"rankscore":0.81961,"score":0.961882605787791},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.85391,"score":0.998},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.85623,"score":7.876},"17way_primate":{"rankscore":0.4025,"score":0.599},"470way_mammalian":{"rankscore":0.67649,"score":7.728}},"polyphen2":{"hdiv":{"pred":["D","D","D"],"rankscore":0.77913,"score":[0.999,0.999,0.999]},"hvar":{"pred":["D","D","D"],"rankscore":0.84481,"score":[0.996,0.996,0.996]}},"primateai":{"pred":"D","rankscore":0.92185,"score":0.867330789566},"provean":{"converted_rankscore":0.62518,"pred":["D","D","D"],"score":[-2.87,-3.01,-3.01]},"ref":"C","reliability_index":10,"revel":{"rankscore":0.86536,"score":[0.645,0.645,0.645]},"sift":{"converted_rankscore":0.63226,"pred":["D","D","D"],"score":[0.005,0.008,0.008]},"sift4g":{"converted_rankscore":0.7415,"pred":["D","D","D"],"score":[0.004,0.008,0.008]},"siphy_29way":{"logodds_rankscore":0.93776,"logodds_score":19.2195,"pi":{"a":0.0,"c":1.0,"g":0.0,"t":0.0}},"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":0.72168,"score":0.51828504},"er_loo":{"rankscore":0.72168,"score":0.51828504},"r":{"rankscore":0.71567,"score":0.5792416},"r_loo":{"rankscore":0.71568,"score":0.5792416}},"vep_canonical":"YES","vest4":{"rankscore":0.94196,"score":[0.898,0.936,0.932]},"vindijia_neandertal":["C","C"]},"hg19":{"end":96058234,"start":96058234},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"7991","position":"5900"},"cds":{"length":"6909","position":"5266"},"effect":"missense_variant","feature_id":"NM_016341.3","feature_type":"transcript","gene_id":"PLCE1","genename":"PLCE1","hgvs_c":"c.5266C>T","hgvs_p":"p.His1756Tyr","protein":{"length":"2302","position":"1756"},"putative_impact":"MODERATE","rank":"24","total":"33","transcript_biotype":"protein_coding"},{"cdna":{"length":"7943","position":"5852"},"cds":{"length":"6861","position":"5218"},"effect":"missense_variant","feature_id":"NM_001288989.1","feature_type":"transcript","gene_id":"PLCE1","genename":"PLCE1","hgvs_c":"c.5218C>T","hgvs_p":"p.His1740Tyr","protein":{"length":"2286","position":"1740"},"putative_impact":"MODERATE","rank":"24","total":"33","transcript_biotype":"protein_coding"},{"cdna":{"length":"6502","position":"4411"},"cds":{"length":"5985","position":"4342"},"effect":"missense_variant","feature_id":"NM_001165979.2","feature_type":"transcript","gene_id":"PLCE1","genename":"PLCE1","hgvs_c":"c.4342C>T","hgvs_p":"p.His1448Tyr","protein":{"length":"1994","position":"1448"},"putative_impact":"MODERATE","rank":"23","total":"32","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"T","position":"96058234","ref":"C"}}