{"_id":"chr11:g.17387153C>G","_version":1,"chrom":"11","clingen":{"caid":"CA379769733"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"H","codon_degeneracy":[2,2],"codonpos":[3,3],"pos":[313,226],"ref":"Q","refcodon":["CAG","CAG"]},"alphamissense":{"pred":["B","B"],"rankscore":0.39647,"score":[0.1591,0.1827]},"alt":"G","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.47661,"score":-0.0283227},"no_af":{"pred":"T","rankscore":0.46962,"score":-0.27846}},"bstatistic":{"converted_rankscore":0.68897,"score":590.0},"cadd":{"phred":16.11,"raw_rankscore":0.2368,"raw_score":1.864398},"chagyrskaya_neandertal":["C","C"],"chrom":"11","clinpred":{"pred":"T","rankscore":0.10067,"score":0.0806239313270685},"dann":{"rankscore":0.12275,"score":0.7837886439228207},"denisova":["C","C"],"eigen":{"phred_coding":0.6270339,"raw_coding":-0.819460781426031,"raw_coding_rankscore":0.12813},"eigen-pc":{"phred_coding":1.180099,"raw_coding":-0.513574640691506,"raw_coding_rankscore":0.21785},"ensembl":{"geneid":["ENSG00000187486","ENSG00000187486"],"proteinid":["ENSP00000345708","ENSP00000434755"],"transcriptid":["ENST00000339994","ENST00000528731"]},"fathmm":{"converted_rankscore":0.92613,"pred":["D","D"],"score":[-3.09,-3.09]},"fathmm-mkl":{"coding_group":"AEFDBHCI","coding_pred":"D","coding_rankscore":0.31174,"coding_score":0.60362},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.36073,"coding_score":0.238642},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.52368,"score":0.61073},"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":0.45129,"score":0.999892466504271},"gerp":{"91_mammals":{"rankscore":0.28569,"score":0.932}},"gerp++":{"nr":5.43,"rs":3.5,"rs_rankscore":0.39181},"gmvp":{"rankscore":0.78656,"score":0.7870496117766361},"hg18":{"end":17365276,"start":17365276},"hg19":{"end":17408700,"start":17408700},"hg38":{"end":17387153,"start":17387153},"hgvsc":["c.939G>C","c.678G>C"],"hgvsp":["p.Q313H","p.Gln313His","p.Q226H","p.Gln226His"],"list-s2":{"pred":"T","rankscore":0.44919,"score":0.80282},"lrt":{"converted_rankscore":0.41772,"omega":0.247787,"pred":"D","score":0.000785},"m-cap":{"pred":"D","rankscore":0.65336,"score":0.053107},"metalr":{"pred":"T","rankscore":0.60002,"score":0.2335},"metarnn":{"pred":["T","T"],"rankscore":0.23163,"score":[0.12212506,0.12212506]},"metasvm":{"pred":"T","rankscore":0.64487,"score":-0.608},"mpc":{"rankscore":0.54266,"score":0.586809190243},"mutationtaster":{"aae":["Q313H","Q226H"],"converted_rankscore":0.34795,"model":["simple_aae","simple_aae"],"pred":["D","D"],"score":[0.822375,0.822375]},"mutformer":{"rankscore":0.96268,"score":0.98656493},"mutpred":{"aa_change":"Q313H","accession":"ENST00000339994","pred":{"mechanism":"Gain of sheet","p_val":0.1208},"rankscore":0.79996,"score":0.662},"mvp":{"rankscore":0.57715,"score":[0.580444438771,0.580444438771]},"phastcons":{"100way_vertebrate":{"rankscore":0.3221,"score":0.928},"17way_primate":{"rankscore":0.63387,"score":0.988},"470way_mammalian":{"rankscore":0.30665,"score":0.984}},"phylop":{"100way_vertebrate":{"rankscore":0.1234,"score":-0.026},"17way_primate":{"rankscore":0.4025,"score":0.599},"470way_mammalian":{"rankscore":0.17468,"score":0.35}},"primateai":{"pred":"T","rankscore":0.51489,"score":0.589969992638},"provean":{"converted_rankscore":0.00046,"pred":["N","N"],"score":[4.22,4.63]},"ref":"C","reliability_index":10,"revel":{"rankscore":0.52472,"score":[0.226,0.226]},"sift":{"converted_rankscore":0.00964,"pred":["T","T"],"score":[1.0,1.0]},"sift4g":{"converted_rankscore":0.01155,"pred":["T","T"],"score":[1.0,1.0]},"siphy_29way":{"logodds_rankscore":0.08133,"logodds_score":3.7623,"pi":{"a":0.1215,"c":0.5119,"g":0.232,"t":0.1346}},"tsl":1,"vep_canonical":"YES","vest4":{"rankscore":0.10626,"score":[0.117,0.117]},"vindijia_neandertal":["C","C"]},"hg38":{"end":17387153,"start":17387153},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"3411","position":"1507"},"cds":{"length":"1173","position":"939"},"effect":"missense_variant","feature_id":"NM_000525.3","feature_type":"transcript","gene_id":"KCNJ11","genename":"KCNJ11","hgvs_c":"c.939G>C","hgvs_p":"p.Gln313His","protein":{"length":"390","position":"313"},"putative_impact":"MODERATE","rank":"1","total":"1","transcript_biotype":"protein_coding"},{"cdna":{"length":"2756","position":"852"},"cds":{"length":"912","position":"678"},"effect":"missense_variant","feature_id":"NM_001166290.1","feature_type":"transcript","gene_id":"KCNJ11","genename":"KCNJ11","hgvs_c":"c.678G>C","hgvs_p":"p.Gln226His","protein":{"length":"303","position":"226"},"putative_impact":"MODERATE","rank":"2","total":"2","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"G","position":"17387153","ref":"C"}}