{"_id":"chr11:g.17408704C>G","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"G","anc":"C","annotype":"CodingTranscript","bstatistic":578,"chmm":{"bivflnk":0.0,"enh":0.016,"enhbiv":0.008,"het":0.008,"quies":0.22,"reprpc":0.055,"reprpcwk":0.307,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.031,"txflnk":0.024,"txwk":0.268,"znfrpts":0.0},"chrom":11,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.11,"dna":{"helt":3.08,"mgw":-0.05,"prot":0.2,"roll":-0.54},"encode":{"exp":27.76,"h3k27ac":5.04,"h3k4me1":6.0,"h3k4me3":3.0,"nucleo":1.1},"exon":"1/1","fitcons":0.627521,"gc":0.6,"gene":{"ccds_id":"CCDS31436.1","cds":{"cdna_pos":1503,"cds_pos":935,"rel_cdna_pos":0.54,"rel_cds_pos":0.8},"feature_id":"ENST00000339994","gene_id":"ENSG00000187486","genename":"KCNJ11","prot":{"domain":"ndomain","protpos":312,"rel_prot_pos":0.8}},"gerp":{"n":5.43,"rs":4551.6,"rs_pval":0,"s":5.43},"grantham":60,"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":214,"min_dist_tss":407,"mutindex":-13,"naa":"A","oaa":"G","phast_cons":{"mammalian":1.0,"primate":0.985,"vertebrate":1.0},"phred":25.3,"phylop":{"mammalian":2.545,"primate":0.557,"vertebrate":6.052},"polyphen":{"cat":"probably_damaging","val":1},"pos":17408704,"rawscore":5.092437,"ref":"C","segway":"GE2","sift":{"cat":"deleterious","val":0.01},"type":"SNV"},"chrom":"11","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"A","codon_degeneracy":[0,0],"codonpos":[2,2],"pos":[312,225],"ref":"G","refcodon":["GGC","GGC"]},"alphamissense":{"pred":["P","P"],"rankscore":0.82428,"score":[0.8796,0.8952]},"alt":"G","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":"principal1","bayesdel":{"add_af":{"pred":"D","rankscore":0.9627,"score":0.561787},"no_af":{"pred":"D","rankscore":0.96212,"score":0.569192}},"bstatistic":{"converted_rankscore":0.68897,"score":590.0},"chagyrskaya_neandertal":["C","C"],"chrom":"11","clinpred":{"pred":"D","rankscore":0.94563,"score":0.998581767082214},"dann":{"rankscore":0.87043,"score":0.9978372399504912},"denisova":["C","C"],"eigen":{"phred_coding":13.44676,"raw_coding":0.98463320663038,"raw_coding_rankscore":0.95252},"eigen-pc":{"phred_coding":14.12191,"raw_coding":0.908543369954919,"raw_coding_rankscore":0.95934},"ensembl":{"geneid":["ENSG00000187486","ENSG00000187486"],"proteinid":["ENSP00000345708","ENSP00000434755"],"transcriptid":["ENST00000339994","ENST00000528731"]},"fathmm":{"converted_rankscore":0.97792,"pred":["D","D"],"score":[-4.57,-4.57]},"fathmm-mkl":{"coding_group":"AEFDBHCI","coding_pred":"D","coding_rankscore":0.60541,"coding_score":0.9424},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.98219,"coding_score":0.961092},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.5294,"score":0.615948},"h1-hesc":{"confidence_value":0,"rankscore":0.31795,"score":0.596874},"huvec":{"confidence_value":0,"rankscore":0.35598,"score":0.584449},"integrated":{"confidence_value":0,"rankscore":0.48692,"score":0.653496}},"gencode_basic":["Y","Y"],"genename":["KCNJ11","KCNJ11"],"genocanyon":{"rankscore":0.98316,"score":1.0},"gerp++":{"nr":5.43,"rs":5.43,"rs_rankscore":0.79006},"gmvp":{"rankscore":0.84163,"score":0.8420331109100112},"hg18":{"end":17365280,"start":17365280},"hg19":{"end":17408704,"start":17408704},"hg38":{"end":17387157,"start":17387157},"hgvsc":["c.935G>C","c.674G>C"],"hgvsp":["p.Gly225Ala","p.G225A","p.Gly312Ala","p.G312A"],"list-s2":{"pred":"D","rankscore":0.99724,"score":0.999309},"lrt":{"converted_rankscore":0.8433,"omega":0.0,"pred":"D","score":0.0},"m-cap":{"pred":"D","rankscore":0.97278,"score":0.67317},"metalr":{"pred":"D","rankscore":0.99078,"score":0.9707},"metarnn":{"pred":["D","D"],"rankscore":0.99893,"score":[0.9936987,0.9936987]},"metasvm":{"pred":"D","rankscore":0.99161,"score":1.088},"mpc":{"rankscore":0.90029,"score":1.68319369211},"mutationtaster":{"aae":["G312A","G225A"],"converted_rankscore":0.81001,"model":["simple_aae","simple_aae"],"pred":["D","D"],"score":[1.0,1.0]},"mutformer":{"rankscore":0.99692,"score":0.999765},"mutpred":{"aa_change":"G312A","accession":"ENST00000339994","pred":{"mechanism":"Gain of helix","p_val":0.1736},"rankscore":0.99466,"score":0.953},"mvp":{"rankscore":0.9435,"score":[0.94408823608,0.94408823608]},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.79791,"score":0.997},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.86479,"score":7.905},"17way_primate":{"rankscore":0.4025,"score":0.599},"470way_mammalian":{"rankscore":0.67175,"score":7.718}},"primateai":{"pred":"T","rankscore":0.63251,"score":0.672901511192},"provean":{"converted_rankscore":0.85692,"pred":["D","D"],"score":[-5.42,-5.48]},"ref":"C","reliability_index":10,"revel":{"rankscore":0.9974,"score":[0.974,0.974]},"sift":{"converted_rankscore":0.63226,"pred":["D","D"],"score":[0.009,0.005]},"sift4g":{"converted_rankscore":0.79402,"pred":["D","D"],"score":[0.002,0.002]},"siphy_29way":{"logodds_rankscore":0.93878,"logodds_score":19.2428,"pi":{"a":0.0,"c":1.0,"g":0.0,"t":0.0}},"tsl":1,"vep_canonical":"YES","vest4":{"rankscore":0.91621,"score":[0.896,0.914]},"vindijia_neandertal":["C","C"]},"hg19":{"end":17408704,"start":17408704},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"3411","position":"1503"},"cds":{"length":"1173","position":"935"},"effect":"missense_variant","feature_id":"NM_000525.3","feature_type":"transcript","gene_id":"KCNJ11","genename":"KCNJ11","hgvs_c":"c.935G>C","hgvs_p":"p.Gly312Ala","protein":{"length":"390","position":"312"},"putative_impact":"MODERATE","rank":"1","total":"1","transcript_biotype":"protein_coding"},{"cdna":{"length":"2756","position":"848"},"cds":{"length":"912","position":"674"},"effect":"missense_variant","feature_id":"NM_001166290.1","feature_type":"transcript","gene_id":"KCNJ11","genename":"KCNJ11","hgvs_c":"c.674G>C","hgvs_p":"p.Gly225Ala","protein":{"length":"303","position":"225"},"putative_impact":"MODERATE","rank":"2","total":"2","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"G","position":"17408704","ref":"C"}}