{"_id":"chr11:g.17408848T>G","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"G","anc":"T","annotype":"CodingTranscript","bstatistic":574,"chmm":{"bivflnk":0.0,"enh":0.024,"enhbiv":0.008,"het":0.016,"quies":0.205,"reprpc":0.055,"reprpcwk":0.323,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.039,"txflnk":0.024,"txwk":0.22,"znfrpts":0.031},"chrom":11,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.09,"dna":{"helt":-2.18,"mgw":0.48,"prot":2.1,"roll":1.05},"encode":{"exp":46.26,"h3k27ac":2.0,"h3k4me1":2.52,"h3k4me3":4.88,"nucleo":0.7},"exon":"1/1","fitcons":0.527649,"gc":0.6,"gene":{"ccds_id":"CCDS31436.1","cds":{"cdna_pos":1359,"cds_pos":791,"rel_cdna_pos":0.49,"rel_cds_pos":0.67},"feature_id":"ENST00000339994","gene_id":"ENSG00000187486","genename":"KCNJ11","prot":{"domain":"ndomain","protpos":264,"rel_prot_pos":0.68}},"gerp":{"n":5.43,"rs":4551.6,"rs_pval":0,"s":4.32},"grantham":65,"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":70,"min_dist_tss":551,"mutindex":-67,"naa":"T","oaa":"N","phast_cons":{"mammalian":1.0,"primate":0.939,"vertebrate":1.0},"phred":9.76,"phylop":{"mammalian":2.058,"primate":0.455,"vertebrate":1.26},"polyphen":{"cat":"benign","val":0.032},"pos":17408848,"rawscore":0.848558,"ref":"T","segway":"R5","sift":{"cat":"tolerated","val":0.33},"type":"SNV"},"chrom":"11","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"T","codon_degeneracy":[0,0],"codonpos":[2,2],"pos":[264,177],"ref":"N","refcodon":["AAC","AAC"]},"alphamissense":{"pred":["B","B"],"rankscore":0.02702,"score":[0.0653,0.0677]},"alt":"G","altai_neandertal":["T","T"],"ancestral_allele":"T","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.54471,"score":0.0206592},"no_af":{"pred":"T","rankscore":0.53877,"score":-0.208101}},"bstatistic":{"converted_rankscore":0.68897,"score":590.0},"chagyrskaya_neandertal":["T","T"],"chrom":"11","clinpred":{"pred":"T","rankscore":0.24098,"score":0.278274118900299},"dann":{"rankscore":0.28349,"score":0.9597773304531728},"denisova":["T","T"],"eigen":{"phred_coding":1.714942,"raw_coding":-0.259893551029787,"raw_coding_rankscore":0.30711},"eigen-pc":{"phred_coding":2.193483,"raw_coding":-0.0507425857564676,"raw_coding_rankscore":0.37458},"ensembl":{"geneid":["ENSG00000187486","ENSG00000187486"],"proteinid":["ENSP00000345708","ENSP00000434755"],"transcriptid":["ENST00000339994","ENST00000528731"]},"fathmm":{"converted_rankscore":0.91478,"pred":["D","D"],"score":[-2.87,-2.87]},"fathmm-mkl":{"coding_group":"AEFGBCI","coding_pred":"D","coding_rankscore":0.44859,"coding_score":0.85698},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.56004,"coding_score":0.545602},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.40923,"score":0.588066},"h1-hesc":{"confidence_value":0,"rankscore":0.80598,"score":0.723109},"huvec":{"confidence_value":0,"rankscore":0.41899,"score":0.613276},"integrated":{"confidence_value":0,"rankscore":0.57023,"score":0.695654}},"gencode_basic":["Y","Y"],"genename":["KCNJ11","KCNJ11"],"genocanyon":{"rankscore":0.74766,"score":0.999995641510357},"gerp":{"91_mammals":{"rankscore":0.44833,"score":2.42}},"gerp++":{"nr":5.43,"rs":4.32,"rs_rankscore":0.50899},"gmvp":{"rankscore":0.53854,"score":0.5392936638120873},"hg18":{"end":17365424,"start":17365424},"hg19":{"end":17408848,"start":17408848},"hg38":{"end":17387301,"start":17387301},"hgvsc":["c.791A>C","c.530A>C"],"hgvsp":["p.N177T","p.Asn177Thr","p.Asn264Thr","p.N264T"],"list-s2":{"pred":"T","rankscore":0.4805,"score":0.821218},"lrt":{"converted_rankscore":0.23444,"omega":0.494758,"pred":"N","score":0.046388},"m-cap":{"pred":"T","rankscore":0.464,"score":0.023442},"metalr":{"pred":"T","rankscore":0.78749,"score":0.4549},"metarnn":{"pred":["T","T"],"rankscore":0.54938,"score":[0.39169443,0.39169443]},"metasvm":{"pred":"T","rankscore":0.73333,"score":-0.3576},"mpc":{"rankscore":0.58527,"score":0.654447523685},"mutationtaster":{"aae":["N264T","N177T"],"converted_rankscore":0.39655,"model":["simple_aae","simple_aae"],"pred":["D","D"],"score":[0.980329,0.980329]},"mutformer":{"rankscore":0.98162,"score":0.996759},"mutpred":{"aa_change":"N264T","accession":"ENST00000339994","pred":{"mechanism":"Gain of glycosylation at S265","p_val":0.1429},"rankscore":0.26362,"score":0.298},"mvp":{"rankscore":0.99061,"score":[0.990720183847,0.990720183847]},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.55675,"score":0.974},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.38469,"score":1.8},"17way_primate":{"rankscore":0.62972,"score":0.665},"470way_mammalian":{"rankscore":0.20997,"score":0.719}},"primateai":{"pred":"T","rankscore":0.17675,"score":0.348324477673},"provean":{"converted_rankscore":0.33798,"pred":["N","N"],"score":[-1.36,-1.09]},"ref":"T","reliability_index":10,"revel":{"rankscore":0.47115,"score":[0.192,0.192]},"sift":{"converted_rankscore":0.16251,"pred":["T","T"],"score":[0.266,0.266]},"sift4g":{"converted_rankscore":0.25286,"pred":["T","T"],"score":[0.228,0.349]},"siphy_29way":{"logodds_rankscore":0.24949,"logodds_score":7.1809,"pi":{"a":0.0,"c":0.2226,"g":0.0,"t":0.7774}},"tsl":1,"vep_canonical":"YES","vest4":{"rankscore":0.42443,"score":[0.383,0.373]},"vindijia_neandertal":["T","T"]},"hg19":{"end":17408848,"start":17408848},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"3411","position":"1359"},"cds":{"length":"1173","position":"791"},"effect":"missense_variant","feature_id":"NM_000525.3","feature_type":"transcript","gene_id":"KCNJ11","genename":"KCNJ11","hgvs_c":"c.791A>C","hgvs_p":"p.Asn264Thr","protein":{"length":"390","position":"264"},"putative_impact":"MODERATE","rank":"1","total":"1","transcript_biotype":"protein_coding"},{"cdna":{"length":"2756","position":"704"},"cds":{"length":"912","position":"530"},"effect":"missense_variant","feature_id":"NM_001166290.1","feature_type":"transcript","gene_id":"KCNJ11","genename":"KCNJ11","hgvs_c":"c.530A>C","hgvs_p":"p.Asn177Thr","protein":{"length":"303","position":"177"},"putative_impact":"MODERATE","rank":"2","total":"2","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"G","position":"17408848","ref":"T"}}