{"_id":"chr11:g.17408607G>T","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"T","anc":"G","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":"stop_gained","consequence":"STOP_GAINED","consscore":8,"cpg":0.12,"dna":{"helt":0.9,"mgw":0.92,"prot":-1.22,"roll":4.79},"encode":{"exp":36.17,"h3k27ac":6.6,"h3k4me1":9.0,"h3k4me3":2.76,"nucleo":0.5,"occ":1,"p_val":{"comb":5.56,"ctcf":16.0,"dnas":4.02,"faire":2.76,"mycp":0.0,"polii":0.0},"sig":{"ctcf":2.65,"dnase":0.1,"faire":0.03,"myc":0.0,"polii":0.0}},"exon":"1/1","fitcons":0.619552,"gc":0.63,"gene":{"ccds_id":"CCDS31436.1","cds":{"cdna_pos":1600,"cds_pos":1032,"rel_cdna_pos":0.57,"rel_cds_pos":0.88},"feature_id":"ENST00000339994","gene_id":"ENSG00000187486","genename":"KCNJ11","prot":{"domain":"ndomain","protpos":344,"rel_prot_pos":0.88}},"gerp":{"n":5.43,"rs":4551.6,"rs_pval":0,"s":3.54},"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":311,"min_dist_tss":310,"mutindex":-37,"naa":"*","oaa":"C","phast_cons":{"mammalian":0.999,"primate":0.991,"vertebrate":1.0},"phred":38,"phylop":{"mammalian":1.282,"primate":0.557,"vertebrate":3.389},"pos":17408607,"rawscore":11.840625,"ref":"G","segway":"GM1","tf":{"bs":1,"bs_peaks":1,"bs_peaks_max":24.6943},"type":"SNV"},"chrom":"11","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"X","codon_degeneracy":[2,2],"codonpos":[3,3],"pos":[344,257],"ref":"C","refcodon":["TGC","TGC"]},"aloft":{"confidence":"High","fraction_transcripts_affected":"2/2","pred":"Recessive","prob_dominant":"0.32125","prob_recessive":"0.61095","prob_tolerant":"0.0678"},"alt":"T","altai_neandertal":["G","G"],"ancestral_allele":"G","appris":"principal1","bayesdel":{"add_af":{"pred":"D","rankscore":0.9736,"score":0.590197},"no_af":{"pred":"D","rankscore":0.97318,"score":0.61}},"bstatistic":{"converted_rankscore":0.68897,"score":590.0},"chagyrskaya_neandertal":["G","G"],"chrom":"11","dann":{"rankscore":0.50335,"score":0.9901022610173521},"denisova":["G","G"],"eigen":{"phred_coding":7.582767,"raw_coding":0.731458469637955,"raw_coding_rankscore":0.81693},"eigen-pc":{"phred_coding":6.065563,"raw_coding":0.587093228881216,"raw_coding_rankscore":0.74012},"ensembl":{"geneid":["ENSG00000187486","ENSG00000187486"],"proteinid":["ENSP00000345708","ENSP00000434755"],"transcriptid":["ENST00000339994","ENST00000528731"]},"fathmm-mkl":{"coding_group":"AEFDBHCI","coding_pred":"D","coding_rankscore":0.7689,"coding_score":0.97754},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.28043,"coding_score":0.155259},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.52368,"score":0.61073},"h1-hesc":{"confidence_value":0,"rankscore":0.98927,"score":0.779548},"huvec":{"confidence_value":0,"rankscore":0.35598,"score":0.584449},"integrated":{"confidence_value":0,"rankscore":0.41245,"score":0.631981}},"gencode_basic":["Y","Y"],"genename":["KCNJ11","KCNJ11"],"genocanyon":{"rankscore":0.74766,"score":0.999999962821788},"gerp":{"91_mammals":{"rankscore":0.43865,"score":2.35}},"gerp++":{"nr":5.43,"rs":3.54,"rs_rankscore":0.3965},"hg18":{"end":17365183,"start":17365183},"hg19":{"end":17408607,"start":17408607},"hg38":{"end":17387060,"start":17387060},"hgvsc":["c.1032C>A","c.771C>A"],"hgvsp":["p.Cys344Ter","p.Cys257Ter","p.C257X","p.Cys257*","p.C344X","p.Cys344*"],"lrt":{"converted_rankscore":0.62929,"omega":0.152939,"pred":"D","score":0.000011},"mutationtaster":{"aae":["C257*","C344*"],"converted_rankscore":0.81001,"model":["complex_aae","complex_aae"],"pred":["D","D"],"score":[1.0,1.0]},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.57723,"score":0.979},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.63957,"score":5.036},"17way_primate":{"rankscore":0.7674,"score":0.676},"470way_mammalian":{"rankscore":0.3842,"score":3.447}},"ref":"G","siphy_29way":{"logodds_rankscore":0.51924,"logodds_score":11.8937,"pi":{"a":0.1434,"c":0.0,"g":0.8566,"t":0.0}},"tsl":1,"vep_canonical":"YES","vest4":{"rankscore":0.95608,"score":[0.927,0.948]},"vindijia_neandertal":["G","G"]},"hg19":{"end":17408607,"start":17408607},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"3411","position":"1600"},"cds":{"length":"1173","position":"1032"},"effect":"stop_gained","feature_id":"NM_000525.3","feature_type":"transcript","gene_id":"KCNJ11","genename":"KCNJ11","hgvs_c":"c.1032C>A","hgvs_p":"p.Cys344*","protein":{"length":"390","position":"344"},"putative_impact":"HIGH","rank":"1","total":"1","transcript_biotype":"protein_coding"},{"cdna":{"length":"2756","position":"945"},"cds":{"length":"912","position":"771"},"effect":"stop_gained","feature_id":"NM_001166290.1","feature_type":"transcript","gene_id":"KCNJ11","genename":"KCNJ11","hgvs_c":"c.771C>A","hgvs_p":"p.Cys257*","protein":{"length":"303","position":"257"},"putative_impact":"HIGH","rank":"2","total":"2","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"T","position":"17408607","ref":"G"}}