{"_id":"chr10:g.96058240T>C","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"C","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":-4.34,"mgw":0.19,"prot":3.78,"roll":0.84},"encode":{"exp":27.19,"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":5507,"cds_pos":5272,"rel_cdna_pos":0.46,"rel_cds_pos":0.76},"feature_id":"ENST00000371380","gene_id":"ENSG00000138193","genename":"PLCE1","prot":{"domain":"ndomain","protpos":1758,"rel_prot_pos":0.76}},"gerp":{"n":5.6,"rs":1061.5,"rs_pval":8.23161e-171,"s":5.6},"grantham":74,"isderived":"TRUE","isknownvariant":"FALSE","istv":"FALSE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":27127,"min_dist_tss":209388,"mutindex":-89,"naa":"P","oaa":"S","phast_cons":{"mammalian":0.997,"primate":0.998,"vertebrate":1.0},"phred":28.0,"phylop":{"mammalian":2.139,"primate":0.53,"vertebrate":4.993},"polyphen":{"cat":"probably_damaging","val":1},"pos":96058240,"rawscore":6.042689,"ref":"T","segway":"R5","sift":{"cat":"deleterious","val":0.01},"type":"SNV"},"chrom":"10","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"P","codon_degeneracy":[0,0,0],"codonpos":[1,1,1],"pos":[1758,1450,1450],"ref":"S","refcodon":["TCG","TCG","TCG"]},"alphamissense":{"pred":["P","P"],"rankscore":0.89389,"score":[0.8916,0.9698]},"alt":"C","altai_neandertal":["T","T"],"ancestral_allele":"T","appris":["principal3","alternative2","alternative2"],"bayesdel":{"add_af":{"pred":"D","rankscore":0.82863,"score":0.298685},"no_af":{"pred":"D","rankscore":0.82641,"score":0.191264}},"bstatistic":{"converted_rankscore":0.84213,"score":372.0},"cds_strand":["+","+","+"],"chagyrskaya_neandertal":["T","T"],"chrom":"10","clinpred":{"pred":"D","rankscore":0.95407,"score":0.998869359493256},"dann":{"rankscore":0.98518,"score":0.9991723299375215},"denisova":["T","T"],"deogen2":{"pred":"D","rankscore":0.86452,"score":0.58464},"eigen":{"phred_coding":9.383523,"raw_coding":0.829421214396659,"raw_coding_rankscore":0.87907},"eigen-pc":{"phred_coding":10.25808,"raw_coding":0.804498649450252,"raw_coding_rankscore":0.90102},"ensembl":{"geneid":["ENSG00000138193","ENSG00000138193","ENSG00000138193"],"proteinid":["ENSP00000360431","ENSP00000360438","ENSP00000360426"],"transcriptid":["ENST00000371380","ENST00000371385","ENST00000371375"]},"esm1b":{"pred":["D","D","D"],"rankscore":0.94698,"score":[-14.469,-14.547,-14.547]},"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":0.78701,"score":0.7072434835048707},"fathmm":{"converted_rankscore":0.55439,"pred":["T","T","T"],"score":[0.51,0.51,0.51]},"fathmm-mkl":{"coding_group":"AEFDBI","coding_pred":"D","coding_rankscore":0.82592,"coding_score":0.9842},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.99689,"coding_score":0.976752},"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":0.999990501218354},"gerp++":{"nr":5.6,"rs":5.6,"rs_rankscore":0.84997},"gmvp":{"rankscore":0.95494,"score":0.9550962508551468},"hg18":{"end":96048230,"start":96048230},"hg19":{"end":96058240,"start":96058240},"hg38":{"end":94298483,"start":94298483},"hgvsc":["c.5272T>C","c.4348T>C"],"hgvsp":["p.S1450P","p.Ser1758Pro","p.S1758P","p.Ser1450Pro"],"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":0.72634,"score":[0.925507,0.924208]},"lrt":{"converted_rankscore":0.62929,"omega":0.063063,"pred":"D","score":3e-6},"m-cap":{"pred":"D","rankscore":0.76933,"score":0.098385},"metalr":{"pred":"T","rankscore":0.71297,"score":0.3486},"metarnn":{"pred":["D","D","D"],"rankscore":0.90367,"score":[0.910028,0.910028,0.910028]},"metasvm":{"pred":"T","rankscore":0.7506,"score":-0.2973},"mpc":{"rankscore":0.87616,"score":1.53311586542},"mutationassessor":{"pred":"M","rankscore":0.69639,"score":2.41},"mutationtaster":{"aae":["S1758P","S1450P","S1758P","S1450P"],"converted_rankscore":0.58761,"model":["simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["D","D","D","D"],"score":[0.999998,0.999997,0.999998,0.999997]},"mutformer":{"rankscore":0.9465,"score":0.96962726},"mutpred":{"aa_change":"S1758P","accession":"Q9P212","pred":{"mechanism":"Gain of sheet","p_val":0.0477},"rankscore":0.88071,"score":0.75},"mvp":{"rankscore":0.82221,"score":[0.823870436993,0.823870436993,0.823870436993]},"phactboost":{"rankscore":0.8154,"score":0.958894596086811},"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":0.87839,"score":7.988},"17way_primate":{"rankscore":0.62972,"score":0.665},"470way_mammalian":{"rankscore":0.75742,"score":7.947}},"polyphen2":{"hdiv":{"pred":["D","D","D"],"rankscore":0.90584,"score":[1.0,1.0,1.0]},"hvar":{"pred":["D","D","D"],"rankscore":0.88582,"score":[0.998,0.998,0.998]}},"primateai":{"pred":"T","rankscore":0.74941,"score":0.753352165222},"provean":{"converted_rankscore":0.75854,"pred":["D","D","D"],"score":[-3.66,-4.22,-4.22]},"ref":"T","reliability_index":10,"revel":{"rankscore":0.92827,"score":[0.784,0.784,0.784]},"sift":{"converted_rankscore":0.72154,"pred":["D","D","D"],"score":[0.015,0.002,0.002]},"sift4g":{"converted_rankscore":0.50809,"pred":["D","D","D"],"score":[0.04,0.045,0.045]},"siphy_29way":{"logodds_rankscore":0.75046,"logodds_score":15.4563,"pi":{"a":0.0,"c":0.0,"g":0.0,"t":1.0}},"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":0.9542,"score":0.9062179},"er_loo":{"rankscore":0.9542,"score":0.9062179},"r":{"rankscore":0.91916,"score":0.90590334},"r_loo":{"rankscore":0.91917,"score":0.90590334}},"vep_canonical":"YES","vest4":{"rankscore":0.97317,"score":[0.933,0.963,0.961]},"vindijia_neandertal":["T","T"]},"hg19":{"end":96058240,"start":96058240},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"7991","position":"5906"},"cds":{"length":"6909","position":"5272"},"effect":"missense_variant","feature_id":"NM_016341.3","feature_type":"transcript","gene_id":"PLCE1","genename":"PLCE1","hgvs_c":"c.5272T>C","hgvs_p":"p.Ser1758Pro","protein":{"length":"2302","position":"1758"},"putative_impact":"MODERATE","rank":"24","total":"33","transcript_biotype":"protein_coding"},{"cdna":{"length":"7943","position":"5858"},"cds":{"length":"6861","position":"5224"},"effect":"missense_variant","feature_id":"NM_001288989.1","feature_type":"transcript","gene_id":"PLCE1","genename":"PLCE1","hgvs_c":"c.5224T>C","hgvs_p":"p.Ser1742Pro","protein":{"length":"2286","position":"1742"},"putative_impact":"MODERATE","rank":"24","total":"33","transcript_biotype":"protein_coding"},{"cdna":{"length":"6502","position":"4417"},"cds":{"length":"5985","position":"4348"},"effect":"missense_variant","feature_id":"NM_001165979.2","feature_type":"transcript","gene_id":"PLCE1","genename":"PLCE1","hgvs_c":"c.4348T>C","hgvs_p":"p.Ser1450Pro","protein":{"length":"1994","position":"1450"},"putative_impact":"MODERATE","rank":"23","total":"32","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"C","position":"96058240","ref":"T"}}