{"_id":"chr5:g.150541585A>G","_version":1,"chrom":"5","clingen":{"caid":"CA361768192"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"E","codon_degeneracy":[0,0],"codonpos":[1,1],"pos":[589,589],"ref":"K","refcodon":["AAA","AAA"]},"alphamissense":{"pred":["P","P"],"rankscore":0.9002,"score":[0.9378,0.9738]},"alt":"G","altai_neandertal":["A","A"],"ancestral_allele":"A","appris":"principal1","bayesdel":{"add_af":{"pred":"D","rankscore":0.79216,"score":0.256623},"no_af":{"pred":"D","rankscore":0.78947,"score":0.130845}},"bstatistic":{"converted_rankscore":0.2731,"score":889.0},"cadd":{"phred":28.2,"raw_rankscore":0.84025,"raw_score":5.04663},"cds_strand":["+","+"],"chagyrskaya_neandertal":["A","A"],"chrom":"5","clinpred":{"pred":"D","rankscore":0.66899,"score":0.9642413854599},"dann":{"rankscore":0.74278,"score":0.9960237008357393},"denisova":["A","A"],"deogen2":{"pred":"T","rankscore":0.76753,"score":0.413774},"eigen":{"phred_coding":3.50138,"raw_coding":0.243531919536649,"raw_coding_rankscore":0.53321},"eigen-pc":{"phred_coding":3.105794,"raw_coding":0.183952153032708,"raw_coding_rankscore":0.48968},"ensembl":{"geneid":["ENSG00000070614","ENSG00000070614"],"proteinid":["ENSP00000428604","ENSP00000261797"],"transcriptid":["ENST00000523767","ENST00000261797"]},"esm1b":{"pred":"D","rankscore":0.64548,"score":-8.518},"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":0.77022,"score":0.6923159619759666},"fathmm":{"converted_rankscore":0.5509,"pred":["T","T"],"score":[0.53,0.53]},"fathmm-mkl":{"coding_group":"AEFBCI","coding_pred":"D","coding_rankscore":0.64853,"coding_score":0.95471},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.87813,"coding_score":0.914571},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.74545,"score":0.702456},"h1-hesc":{"confidence_value":0,"rankscore":0.64325,"score":0.697927},"huvec":{"confidence_value":0,"rankscore":0.98432,"score":0.735409},"integrated":{"confidence_value":0,"rankscore":0.8544,"score":0.722319}},"gencode_basic":["Y","Y"],"genename":["NDST1","NDST1"],"genocanyon":{"rankscore":0.74766,"score":0.999999954378045},"gerp++":{"nr":5.02,"rs":3.86,"rs_rankscore":0.43689},"gmvp":{"rankscore":0.7223,"score":0.7228634673817763},"hg18":{"end":149901340,"start":149901340},"hg19":{"end":149921147,"start":149921147},"hg38":{"end":150541585,"start":150541585},"hgvsc":"c.1765A>G","hgvsp":["p.Lys589Glu","p.K589E"],"list-s2":{"pred":["D","D"],"rankscore":0.88939,"score":[0.969303,0.969303]},"lrt":{"converted_rankscore":0.8433,"omega":0.0,"pred":"D","score":0.0},"m-cap":{"pred":"D","rankscore":0.61592,"score":0.04465},"metalr":{"pred":"T","rankscore":0.57547,"score":0.2142},"metarnn":{"pred":["D","D"],"rankscore":0.7087,"score":[0.6737992,0.6737992]},"metasvm":{"pred":"T","rankscore":0.59918,"score":-0.7107},"mpc":{"rankscore":0.92171,"score":1.84099095936},"mutationassessor":{"pred":"M","rankscore":0.79712,"score":2.725},"mutationtaster":{"aae":["K589E","K589E"],"converted_rankscore":0.54805,"model":["simple_aae","simple_aae"],"pred":["D","D"],"score":[0.999988,0.999988]},"mutformer":{"rankscore":0.86249,"score":0.7055343},"mutpred":{"aa_change":["K589E","K589E"],"accession":["P52848","P52848"],"pred":[{"mechanism":"Loss of methylation at K589","p_val":0.0099},{"mechanism":"Loss of methylation at K589","p_val":0.0099}],"rankscore":0.40951,"score":[0.388,0.388]},"mvp":{"rankscore":0.88136,"score":[0.882523569114,0.882523569114]},"phactboost":{"rankscore":0.9765,"score":0.999726645028826},"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":0.94851,"score":9.268},"17way_primate":{"rankscore":0.94297,"score":0.756},"470way_mammalian":{"rankscore":0.92418,"score":11.309}},"polyphen2":{"hdiv":{"pred":["P","P"],"rankscore":0.52768,"score":[0.94,0.94]},"hvar":{"pred":["P","P"],"rankscore":0.47859,"score":[0.507,0.507]}},"primateai":{"pred":"D","rankscore":0.84612,"score":0.817286789417},"provean":{"converted_rankscore":0.42763,"pred":["N","N"],"score":[-1.48,-1.82]},"ref":"A","reliability_index":10,"revel":{"rankscore":0.68407,"score":[0.364,0.364]},"sift":{"converted_rankscore":0.42199,"pred":["D","D"],"score":[0.049,0.04]},"sift4g":{"converted_rankscore":0.30534,"pred":["T","T"],"score":[0.179,0.169]},"siphy_29way":{"logodds_rankscore":0.44131,"logodds_score":10.525,"pi":{"a":0.9225,"c":0.0,"g":0.0775,"t":0.0}},"tsl":[2,1],"uniprot":[{"acc":"E7EVJ3","entry":"E7EVJ3_HUMAN"},{"acc":"P52848","entry":"NDST1_HUMAN"}],"varity":{"er":{"rankscore":0.59882,"score":0.3414247},"er_loo":{"rankscore":0.59881,"score":0.3414247},"r":{"rankscore":0.61544,"score":0.4118444},"r_loo":{"rankscore":0.61545,"score":0.4118444}},"vep_canonical":"YES","vest4":{"rankscore":0.81063,"score":[0.801,0.815]},"vindijia_neandertal":["A","A"]},"hg38":{"end":150541585,"start":150541585},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"8030","position":"2267"},"cds":{"length":"2649","position":"1765"},"effect":"missense_variant","feature_id":"NM_001543.4","feature_type":"transcript","gene_id":"NDST1","genename":"NDST1","hgvs_c":"c.1765A>G","hgvs_p":"p.Lys589Glu","protein":{"length":"882","position":"589"},"putative_impact":"MODERATE","rank":"9","total":"15","transcript_biotype":"protein_coding"},{"cdna":{"length":"7946","position":"2354"},"cds":{"length":"2478","position":"1765"},"effect":"missense_variant","feature_id":"NM_001301063.1","feature_type":"transcript","gene_id":"NDST1","genename":"NDST1","hgvs_c":"c.1765A>G","hgvs_p":"p.Lys589Glu","protein":{"length":"825","position":"589"},"putative_impact":"MODERATE","rank":"9","total":"14","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"G","position":"150541585","ref":"A"}}