{"_id":"chr20:g.3669596A>C","_version":1,"chrom":"20","clingen":{"caid":"CA408103822"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"G","codon_degeneracy":[0,0,0,0],"codonpos":[2,2,2,2],"pos":[761,761,641,735],"ref":"V","refcodon":["GTT","GTT","GTT","GTT"]},"alphamissense":{"pred":["B","B","B","B"],"rankscore":0.1308,"score":[0.0848,0.0852,0.091,0.0875]},"alt":"C","altai_neandertal":["A","A"],"ancestral_allele":"A","appris":["principal3","alternative2","alternative2"],"bayesdel":{"add_af":{"pred":"T","rankscore":0.13073,"score":-0.258527},"no_af":{"pred":"T","rankscore":0.12055,"score":-0.609132}},"bstatistic":{"converted_rankscore":0.60868,"score":671.0},"cadd":{"phred":8.912,"raw_rankscore":0.12376,"raw_score":0.86494},"chagyrskaya_neandertal":["A","A"],"chrom":"20","clinpred":{"pred":"T","rankscore":0.25345,"score":0.308306285205907},"dann":{"rankscore":0.35726,"score":0.9774793913152097},"denisova":["A","A"],"deogen2":{"pred":["T","T"],"rankscore":0.40497,"score":[0.099799,0.023779]},"eigen":{"phred_coding":0.8921203,"raw_coding":-0.653740808189345,"raw_coding_rankscore":0.17351},"eigen-pc":{"phred_coding":0.718425,"raw_coding":-0.82830699801633,"raw_coding_rankscore":0.13809},"ensembl":{"geneid":["ENSG00000149451","ENSG00000149451","ENSG00000149451","ENSG00000149451"],"proteinid":["ENSP00000348912","ENSP00000369190","ENSP00000484600","ENSP00000322550"],"transcriptid":["ENST00000356518","ENST00000379861","ENST00000619289","ENST00000350009"]},"esm1b":{"pred":["T","T"],"rankscore":0.08101,"score":[-2.791,-2.568]},"fathmm":{"converted_rankscore":0.01528,"pred":["T","T","T"],"score":[4.8,4.8,4.81]},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"N","coding_rankscore":0.103,"coding_score":0.04634},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.19609,"coding_score":0.097199},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.45803,"score":0.59043},"h1-hesc":{"confidence_value":0,"rankscore":0.48771,"score":0.645312},"huvec":{"confidence_value":0,"rankscore":0.1498,"score":0.542086},"integrated":{"confidence_value":0,"rankscore":0.45356,"score":0.646311}},"gencode_basic":["Y","Y","Y","Y"],"genename":["ADAM33","ADAM33","ADAM33","ADAM33"],"genocanyon":{"rankscore":0.10641,"score":0.00461307781657052},"gerp":{"91_mammals":{"rankscore":0.17952,"score":-0.574}},"gerp++":{"nr":3.21,"rs":0.688,"rs_rankscore":0.1719},"gmvp":{"rankscore":0.49614,"score":0.4969325020732981},"hg18":{"end":3598243,"start":3598243},"hg19":{"end":3650243,"start":3650243},"hg38":{"end":3669596,"start":3669596},"hgvsc":["c.2204T>G","c.1922T>G","c.2282T>G"],"hgvsp":["p.Val735Gly","p.V761G","p.Val761Gly","p.V641G","p.Val641Gly","p.V735G"],"list-s2":{"pred":["T","T","T","T"],"rankscore":0.15191,"score":[0.492651,0.492651,0.492651,0.492651]},"m-cap":{"pred":"T","rankscore":0.39111,"score":0.017421},"metalr":{"pred":"T","rankscore":0.02884,"score":0.0082},"metarnn":{"pred":["T","T","T","T"],"rankscore":0.30245,"score":[0.16121411,0.16121411,0.16121411,0.16121411]},"metasvm":{"pred":"T","rankscore":0.49569,"score":-0.8824},"mpc":{"rankscore":0.11943,"score":0.105681853306},"mutationassessor":{"pred":"L","rankscore":0.37439,"score":1.495},"mutationtaster":{"aae":["V761G","V761G","V735G"],"converted_rankscore":0.18198,"model":["simple_aae","simple_aae","simple_aae"],"pred":["N","N","N"],"score":[0.999985,0.999985,0.999985]},"mutformer":{"rankscore":0.9137,"score":0.9034638},"mutpred":{"aa_change":["V761G","V761G"],"accession":["Q9BZ11","Q9BZ11"],"pred":[{"mechanism":"Loss of stability","p_val":0.02},{"mechanism":"Loss of stability","p_val":0.02}],"rankscore":0.21893,"score":[0.27,0.27]},"mvp":{"rankscore":0.25185,"score":[0.255777322467,0.255777322467,0.255777322467,0.255777322467]},"phactboost":{"rankscore":0.46644,"score":0.14338480648575},"phastcons":{"100way_vertebrate":{"rankscore":0.06391,"score":0.0},"17way_primate":{"rankscore":0.06068,"score":0.004},"470way_mammalian":{"rankscore":0.17328,"score":0.001}},"phylop":{"100way_vertebrate":{"rankscore":0.09747,"score":-0.18},"17way_primate":{"rankscore":0.17311,"score":-0.049},"470way_mammalian":{"rankscore":0.19156,"score":0.52}},"polyphen2":{"hdiv":{"pred":["P","P","D","P"],"rankscore":0.77913,"score":[0.895,0.895,0.999,0.937]},"hvar":{"pred":["B","B","D","P"],"rankscore":0.65091,"score":[0.328,0.328,0.915,0.529]}},"primateai":{"pred":"T","rankscore":0.07164,"score":0.277623862028},"provean":{"converted_rankscore":0.58569,"pred":["D","D","D"],"score":[-2.76,-2.72,-2.76]},"ref":"A","reliability_index":9,"revel":{"rankscore":0.07369,"score":[0.031,0.031,0.031]},"sift":{"converted_rankscore":0.68238,"pred":["D","D","D"],"score":[0.003,0.003,0.003]},"sift4g":{"converted_rankscore":0.76473,"pred":["T","T","D","T"],"score":[0.338,0.265,0.003,0.334]},"siphy_29way":{"logodds_rankscore":0.07476,"logodds_score":3.5733,"pi":{"a":0.5371,"c":0.2353,"g":0.0,"t":0.2276}},"tsl":[1,1,1,5],"uniprot":[{"acc":"Q9BZ11","entry":"ADA33_HUMAN"},{"acc":"A2A2L3","entry":"A2A2L3_HUMAN"},{"acc":"Q08AM2","entry":"Q08AM2_HUMAN"},{"acc":"Q9BZ11-2","entry":"ADA33_HUMAN"}],"varity":{"er":{"rankscore":0.36523,"score":0.1558957},"er_loo":{"rankscore":0.36522,"score":0.1558957},"r":{"rankscore":0.2748,"score":0.11651324},"r_loo":{"rankscore":0.2748,"score":0.11651324}},"vep_canonical":"YES","vest4":{"rankscore":0.17828,"score":[0.157,0.16,0.158,0.168]},"vindijia_neandertal":["A","A"]},"hg38":{"end":3669596,"start":3669596},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"4126","position":"2968"},"cds":{"length":"2442","position":"2282"},"effect":"missense_variant","feature_id":"NM_025220.4","feature_type":"transcript","gene_id":"ADAM33","genename":"ADAM33","hgvs_c":"c.2282T>G","hgvs_p":"p.Val761Gly","protein":{"length":"813","position":"761"},"putative_impact":"MODERATE","rank":"20","total":"22","transcript_biotype":"protein_coding"},{"cdna":{"length":"4123","position":"2968"},"cds":{"length":"2439","position":"2282"},"effect":"missense_variant","feature_id":"NM_001282447.2","feature_type":"transcript","gene_id":"ADAM33","genename":"ADAM33","hgvs_c":"c.2282T>G","hgvs_p":"p.Val761Gly","protein":{"length":"812","position":"761"},"putative_impact":"MODERATE","rank":"20","total":"22","transcript_biotype":"protein_coding"},{"cdna":{"length":"4048","position":"2890"},"cds":{"length":"2364","position":"2204"},"effect":"missense_variant","feature_id":"NM_153202.3","feature_type":"transcript","gene_id":"ADAM33","genename":"ADAM33","hgvs_c":"c.2204T>G","hgvs_p":"p.Val735Gly","protein":{"length":"787","position":"735"},"putative_impact":"MODERATE","rank":"19","total":"21","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"C","position":"3669596","ref":"A"}}