{"_id":"chr8:g.18258282A>T","_version":2,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"T","anc":"A","annotype":"CodingTranscript","bstatistic":934,"chmm":{"bivflnk":0.0,"enh":0.0,"enhbiv":0.0,"het":0.0,"quies":0.78,"reprpc":0.031,"reprpcwk":0.157,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.008,"txflnk":0.0,"txwk":0.024,"znfrpts":0.0},"chrom":8,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.03,"dna":{"helt":-1.8,"mgw":1.52,"prot":4.57,"roll":10.78},"encode":{"exp":1.68,"h3k27ac":2.0,"h3k4me1":4.08,"h3k4me3":2.0,"nucleo":0.4},"esp":{"af":0.0,"afr":0.0,"eur":0.0},"exon":"2/2","fitcons":0.577471,"gc":0.38,"gene":{"ccds_id":"CCDS6008.1","cds":{"cdna_pos":876,"cds_pos":769,"rel_cdna_pos":0.66,"rel_cds_pos":0.88},"feature_id":"ENST00000286479","gene_id":"ENSG00000156006","genename":"NAT2","prot":{"domain":"ndomain","protpos":257,"rel_prot_pos":0.89}},"gerp":{"n":2.71,"rs":797.3,"rs_pval":3.51461e-63,"s":0.177},"grantham":58,"isderived":"TRUE","isknownvariant":"TRUE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":222,"min_dist_tss":9485,"mutindex":34,"naa":"S","oaa":"T","phast_cons":{"mammalian":0.051,"primate":0.032,"vertebrate":0.078},"phred":0.017,"phylop":{"mammalian":0.028,"primate":0.354,"vertebrate":0.155},"polyphen":{"cat":"benign","val":0.006},"pos":18258282,"rawscore":-0.983656,"ref":"A","segway":"F0","sift":{"cat":"tolerated","val":0.34},"type":"SNV"},"chrom":"8","clinvar":{"_license":"http://bit.ly/2SQdcI0","allele_id":3458080,"alt":"T","chrom":"8","cytogenic":"8p22","gene":{"id":"10","symbol":"NAT2"},"hg19":{"end":18258282,"start":18258282},"hg38":{"end":18400772,"start":18400772},"hgvs":{"coding":"NM_000015.3:c.769A>T","genomic":["NC_000008.10:g.18258282A>T","NC_000008.11:g.18400772A>T","NG_012246.1:g.14528A>T"],"protein":"NP_000006.2:p.Thr257Ser"},"rcv":{"accession":"RCV004652313","clinical_significance":"Uncertain significance","conditions":{"identifiers":{"medgen":"CN169374"},"name":"not specified","synonyms":["AllHighlyPenetrant"]},"last_evaluated":"2024-05-26","number_submitters":1,"origin":"germline","preferred_name":"NM_000015.3(NAT2):c.769A>T (p.Thr257Ser)","review_status":"criteria provided, single submitter"},"ref":"A","type":"single nucleotide variant","variant_id":3298475},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"S","codon_degeneracy":[0,0],"codonpos":[1,1],"pos":[257,127],"ref":"T","refcodon":["ACT","ACT"]},"alfa":{"african":{"ac":2,"af":0.0006854009595613434,"an":2918},"african_american":{"ac":2,"af":0.0007132667617689016,"an":2804},"african_others":{"ac":0,"af":0.0,"an":114},"asian":{"ac":0,"af":0.0,"an":112},"east_asian":{"ac":0,"af":0.0,"an":86},"european":{"ac":3,"af":0.00011295180722891567,"an":26560},"latin_american_1":{"ac":0,"af":0.0,"an":500},"latin_american_2":{"ac":0,"af":0.0,"an":628},"other":{"ac":0,"af":0.0,"an":4588},"other_asian":{"ac":0,"af":0.0,"an":26},"south_asian":{"ac":0,"af":0.0,"an":98},"total":{"ac":5,"af":0.00014122698000225962,"an":35404}},"alphamissense":{"pred":["B","B"],"rankscore":0.23005,"score":[0.0982,0.1149]},"alt":"T","altai_neandertal":["A","A"],"ancestral_allele":"A","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.01635,"score":-0.423087},"no_af":{"pred":"T","rankscore":0.07919,"score":-0.665216}},"bstatistic":{"converted_rankscore":0.47767,"score":779.0},"cds_strand":["+","+"],"chagyrskaya_neandertal":["A","A"],"chrom":"8","clinpred":{"pred":"T","rankscore":0.08424,"score":0.0683901391412122},"dann":{"rankscore":0.07125,"score":0.6306334649770398},"denisova":["A","A"],"deogen2":{"pred":"T","rankscore":0.05608,"score":0.006169},"eigen":{"phred_coding":0.3236036,"raw_coding":-1.08097020307812,"raw_coding_rankscore":0.06994},"eigen-pc":{"phred_coding":0.3227634,"raw_coding":-1.15446979698378,"raw_coding_rankscore":0.06688},"ensembl":{"geneid":["ENSG00000156006","ENSG00000156006"],"proteinid":["ENSP00000286479","ENSP00000428416"],"transcriptid":["ENST00000286479","ENST00000520116"]},"esp6500":{"aa":{"ac":1,"af":0.00022696323195642307},"ea":{"ac":1,"af":0.00011627906976744187}},"exac":{"ac":6,"adj_ac":6,"adj_af":0.00004986,"af":0.00004942,"afr":{"ac":0,"af":0.0},"amr":{"ac":0,"af":0.0},"eas":{"ac":0,"af":0.0},"fin":{"ac":0,"af":0.0},"nfe":{"ac":6,"af":0.0000906},"sas":{"ac":0,"af":0.0}},"exac_nonpsych":{"ac":2,"adj_ac":2,"adj_af":0.0000223,"af":0.00002204,"afr":{"ac":0,"af":0.0},"amr":{"ac":0,"af":0.0},"eas":{"ac":0,"af":0.0},"fin":{"ac":0,"af":0.0},"nfe":{"ac":2,"af":0.00004805},"sas":{"ac":0,"af":0.0}},"exac_nontcga":{"ac":5,"adj_ac":5,"adj_af":0.0000475,"af":0.00004708,"afr":{"ac":0,"af":0.0},"amr":{"ac":0,"af":0.0},"eas":{"ac":0,"af":0.0},"fin":{"ac":0,"af":0.0},"nfe":{"ac":5,"af":0.00009269},"sas":{"ac":0,"af":0.0}},"fathmm":{"converted_rankscore":0.01735,"pred":["T","T"],"score":[4.67,4.67]},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"N","coding_rankscore":0.16476,"coding_score":0.11202},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.52954,"coding_score":0.493246},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.26702,"score":0.573888},"h1-hesc":{"confidence_value":0,"rankscore":0.34648,"score":0.602189},"huvec":{"confidence_value":0,"rankscore":0.1498,"score":0.542086},"integrated":{"confidence_value":0,"rankscore":0.28877,"score":0.554377}},"gencode_basic":["Y","Y"],"genename":["NAT2","NAT2"],"genocanyon":{"rankscore":0.02871,"score":0.0000116918979080172},"gerp":{"91_mammals":{"rankscore":0.55171,"score":3.02}},"gerp++":{"nr":2.71,"rs":0.177,"rs_rankscore":0.14338},"gmvp":{"rankscore":0.44146,"score":0.44229388472702214},"hg18":{"end":18302562,"start":18302562},"hg19":{"end":18258282,"start":18258282},"hg38":{"end":18400772,"start":18400772},"hgvsc":["c.379A>T","c.769A>T"],"hgvsp":["p.T257S","p.Thr127Ser","p.Thr257Ser","p.T127S"],"list-s2":{"pred":["T","T"],"rankscore":0.28555,"score":[0.676832,0.637336]},"lrt":{"converted_rankscore":0.1909,"omega":0.523663,"pred":"N","score":0.119051},"m-cap":{"pred":"T","rankscore":0.05956,"score":0.00284},"metalr":{"pred":"T","rankscore":0.01506,"score":0.0046},"metarnn":{"pred":["T","T"],"rankscore":0.09936,"score":[0.06934801,0.06934801]},"metasvm":{"pred":"T","rankscore":0.4837,"score":-0.8962},"mpc":{"rankscore":0.00433,"score":0.004860622781},"mutationtaster":{"aae":["T257S","T127S"],"converted_rankscore":0.08975,"model":["simple_aae","simple_aae"],"pred":["N","N"],"score":[1.0,1.0]},"mutformer":{"rankscore":0.16963,"score":0.00114432},"mutpred":{"aa_change":"T257S","accession":"ENST00000286479","pred":{"mechanism":"Gain of disorder","p_val":0.065},"rankscore":0.53729,"score":0.466},"mvp":{"rankscore":0.08302,"score":[0.0884992946249,0.0884992946249]},"phastcons":{"100way_vertebrate":{"rankscore":0.1704,"score":0.005},"17way_primate":{"rankscore":0.23893,"score":0.275},"470way_mammalian":{"rankscore":0.2864,"score":0.935}},"phylop":{"100way_vertebrate":{"rankscore":0.40951,"score":2.053},"17way_primate":{"rankscore":0.51917,"score":0.632},"470way_mammalian":{"rankscore":0.39732,"score":3.765}},"polyphen2":{"hdiv":{"pred":"B","rankscore":0.07471,"score":0.001},"hvar":{"pred":"B","rankscore":0.06944,"score":0.002}},"primateai":{"pred":"T","rankscore":0.1379,"score":0.322438240051},"provean":{"converted_rankscore":0.27669,"pred":["N","N"],"score":[-0.94,-1.06]},"ref":"A","reliability_index":10,"revel":{"rankscore":0.13305,"score":[0.048,0.048]},"rsid":"rs373698592","sift":{"converted_rankscore":0.25055,"pred":["T","T"],"score":[0.146,0.151]},"sift4g":{"converted_rankscore":0.12037,"pred":["T","T"],"score":[0.476,0.56]},"siphy_29way":{"logodds_rankscore":0.12454,"logodds_score":4.7552,"pi":{"a":0.6993,"c":0.0,"g":0.3007,"t":0.0}},"tsl":[1,3],"uniprot":[{"acc":"A4Z6T7","entry":"A4Z6T7_HUMAN"},{"acc":"E7EWF9","entry":"E7EWF9_HUMAN"}],"vep_canonical":"YES","vest4":{"rankscore":0.02964,"score":[0.052,0.058]},"vindijia_neandertal":["A","A"]},"dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"A","freq":{"dbgap_popfreq":1.0,"gnomad":1.0,"goesp":1.0,"topmed":1.0}},{"allele":"T","freq":{"dbgap_popfreq":0.0,"gnomad":0.0,"goesp":0.0,"topmed":0.0}}],"alt":"T","chrom":"8","dbsnp_build":156,"gene":{"geneid":10,"is_pseudo":false,"name":"N-acetyltransferase 2","rnas":[{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":838,"seq_id":"NM_000015.3"},"hgvs":"NM_000015.3:c.769=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":256,"seq_id":"NP_000006.2"}}},"protein_product":{"refseq":"NP_000006.2"},"refseq":"NM_000015.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"ACT","inserted_sequence":"ACT","position":1074,"seq_id":"XM_017012938.2"},"hgvs":"XM_017012938.2:c.769=","protein":{"variant":{"spdi":{"deleted_sequence":"T","inserted_sequence":"T","position":256,"seq_id":"XP_016868427.1"}}},"protein_product":{"refseq":"XP_016868427.1"},"refseq":"XM_017012938.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]}],"strand":"+","symbol":"NAT2"},"hg19":{"end":18258282,"start":18258282},"ref":"A","rsid":"rs373698592","vartype":"snv"},"evs":{"_license":"http://bit.ly/2QAcvkh","allele_count":{"african_american":{"A":4405,"T":1},"all":{"A":13004,"T":2},"european_american":{"A":8599,"T":1}},"alt":"T","avg_sample_read":52,"chimp_allele":"A","chrom":8,"coding_dna_size":873,"conservation":{"gerp":0.2,"phast_cons":0.0},"dbsnp_version":138,"estimated_age_kyrs":{"aa":"2.1+/-5.4","ea":"1.2+/-3.3"},"filter_status":"PASS","function_gvs":"missense","gene":{"accession":"NM_000015.2","symbol":"NAT2"},"genotype_count":{"african_american":{"AA":2202,"TA":1,"TT":0},"all_genotype":{"AA":6501,"TA":2,"TT":0},"european_american":{"AA":4299,"TA":1,"TT":0}},"grantham_score":58,"hg19":{"end":18258282,"start":18258282},"hg38":{"end":18400772,"start":18400772},"hgvs":{"coding":"c.769A>T","protein":"p.(T257S)"},"ma_fin_percent":{"african_american":0.0227,"all":0.0154,"european_american":0.0116},"on_illumina_human_exome_chip":"no","polyphen2":{"class":"b","score":"e"},"ref":"A","ref_base_ncbi":"A","rsid":"rs373698592"},"exac":{"_license":"http://bit.ly/2H9c4hg","ac":{"ac":6,"ac_adj":6,"ac_afr":0,"ac_amr":0,"ac_eas":0,"ac_female":3,"ac_fin":0,"ac_het":6,"ac_hom":0,"ac_male":3,"ac_nfe":6,"ac_oth":0,"ac_sas":0},"af":0.00004942,"alleles":["T","G"],"alt":"T","an":{"an":121402,"an_adj":120332,"an_afr":10046,"an_amr":11470,"an_eas":8610,"an_female":53440,"an_fin":6590,"an_male":66892,"an_nfe":66222,"an_oth":902,"an_sas":16492},"baseqranksum":-0.351,"chrom":8,"clippingranksum":0.278,"culprit":"FS","fs":0.0,"het":{"het_afr":[0,0,0],"het_amr":[0,1,0],"het_eas":[0,0,0],"het_fin":[0,0,0],"het_nfe":[6,0,0],"het_oth":[0,0,0],"het_sas":[0,0,0]},"hom":{"hom_afr":[0,0],"hom_amr":[0,0],"hom_eas":[0,0],"hom_fin":[0,0],"hom_nfe":[0,0],"hom_oth":[0,0],"hom_sas":[0,0]},"inbreedingcoeff":0.0005,"mq":{"mq":59.73,"mq0":0,"mqranksum":0.044},"multi-allelic":["chr8:g.18258282A>T","chr8:g.18258282A>G"],"ncc":12,"pos":18258282,"qd":13.89,"readposranksum":0.709,"ref":"A","type":"snp","vqslod":4.96},"exac_nontcga":{"_license":"http://bit.ly/2H9c4hg","ac":{"ac":5,"ac_adj":5,"ac_afr":0,"ac_amr":0,"ac_eas":0,"ac_female":3,"ac_fin":0,"ac_het":5,"ac_hom":0,"ac_male":2,"ac_nfe":5,"ac_oth":0,"ac_sas":0},"af":0.00004708,"alleles":["T","G"],"alt":"T","an":{"an":106202,"an_adj":105270,"an_afr":8720,"an_amr":11112,"an_eas":7826,"an_female":45284,"an_fin":6590,"an_male":59986,"an_nfe":53942,"an_oth":692,"an_sas":16388},"baseqranksum":-0.351,"chrom":8,"clippingranksum":0.278,"culprit":"FS","fs":0.0,"het":{"het_afr":[0,0,0],"het_amr":[0,1,0],"het_eas":[0,0,0],"het_fin":[0,0,0],"het_nfe":[5,0,0],"het_oth":[0,0,0],"het_sas":[0,0,0]},"hom":{"hom_afr":[0,0],"hom_amr":[0,0],"hom_eas":[0,0],"hom_fin":[0,0],"hom_nfe":[0,0],"hom_oth":[0,0],"hom_sas":[0,0]},"inbreedingcoeff":0.0005,"mq":{"mq":59.73,"mq0":0,"mqranksum":0.044},"multi-allelic":["chr8:g.18258282A>T","chr8:g.18258282A>G"],"ncc":12,"pos":18258282,"qd":13.89,"readposranksum":0.709,"ref":"A","type":"snp","vqslod":4.96},"gnomad_exome":{"_license":"http://bit.ly/2I1cl1I","ac":{"ac":6,"ac_afr":0,"ac_afr_female":0,"ac_afr_male":0,"ac_amr":0,"ac_amr_female":0,"ac_amr_male":0,"ac_asj":0,"ac_asj_female":0,"ac_asj_male":0,"ac_eas":0,"ac_eas_female":0,"ac_eas_jpn":0,"ac_eas_kor":0,"ac_eas_male":0,"ac_eas_oea":0,"ac_female":3,"ac_fin":0,"ac_fin_female":0,"ac_fin_male":0,"ac_male":3,"ac_nfe":6,"ac_nfe_bgr":0,"ac_nfe_est":0,"ac_nfe_female":3,"ac_nfe_male":3,"ac_nfe_nwe":1,"ac_nfe_onf":0,"ac_nfe_seu":0,"ac_nfe_swe":5,"ac_oth":0,"ac_oth_female":0,"ac_oth_male":0,"ac_sas":0,"ac_sas_female":0,"ac_sas_male":0},"af":{"af":0.0000240194,"af_afr":0.0,"af_afr_female":0.0,"af_afr_male":0.0,"af_amr":0.0,"af_amr_female":0.0,"af_amr_male":0.0,"af_asj":0.0,"af_asj_female":0.0,"af_asj_male":0.0,"af_eas":0.0,"af_eas_female":0.0,"af_eas_jpn":0.0,"af_eas_kor":0.0,"af_eas_male":0.0,"af_eas_oea":0.0,"af_female":0.0000261716,"af_fin":0.0,"af_fin_female":0.0,"af_fin_male":0.0,"af_male":0.0000221943,"af_nfe":0.0000530945,"af_nfe_bgr":0.0,"af_nfe_est":0.0,"af_nfe_female":0.0000602361,"af_nfe_male":0.0000474669,"af_nfe_nwe":0.0000238983,"af_nfe_onf":0.0,"af_nfe_seu":0.0,"af_nfe_swe":0.00019163,"af_oth":0.0,"af_oth_female":0.0,"af_oth_male":0.0,"af_sas":0.0,"af_sas_female":0.0,"af_sas_male":0.0},"alleles":"T","alt":"T","an":{"an":249798,"an_afr":16034,"an_afr_female":9872,"an_afr_male":6162,"an_amr":34424,"an_amr_female":20176,"an_amr_male":14248,"an_asj":10046,"an_asj_female":4882,"an_asj_male":5164,"an_eas":18360,"an_eas_female":9304,"an_eas_jpn":140,"an_eas_kor":3816,"an_eas_male":9056,"an_eas_oea":14404,"an_female":114628,"an_fin":21324,"an_fin_female":10176,"an_fin_male":11148,"an_male":135170,"an_nfe":113006,"an_nfe_bgr":2662,"an_nfe_est":240,"an_nfe_female":49804,"an_nfe_male":63202,"an_nfe_nwe":41844,"an_nfe_onf":30726,"an_nfe_seu":11442,"an_nfe_swe":26092,"an_oth":6068,"an_oth_female":2888,"an_oth_male":3180,"an_sas":30536,"an_sas_female":7526,"an_sas_male":23010},"baseqranksum":-1.945,"chrom":"8","clippingranksum":0.026,"dp":9094889,"fs":0.0,"hom":{"hom":0,"hom_afr":0,"hom_afr_female":0,"hom_afr_male":0,"hom_amr":0,"hom_amr_female":0,"hom_amr_male":0,"hom_asj":0,"hom_asj_female":0,"hom_asj_male":0,"hom_eas":0,"hom_eas_female":0,"hom_eas_jpn":0,"hom_eas_kor":0,"hom_eas_male":0,"hom_eas_oea":0,"hom_female":0,"hom_fin":0,"hom_fin_female":0,"hom_fin_male":0,"hom_male":0,"hom_nfe":0,"hom_nfe_bgr":0,"hom_nfe_est":0,"hom_nfe_female":0,"hom_nfe_male":0,"hom_nfe_nwe":0,"hom_nfe_onf":0,"hom_nfe_seu":0,"hom_nfe_swe":0,"hom_oth":0,"hom_oth_female":0,"hom_oth_male":0,"hom_sas":0,"hom_sas_female":0,"hom_sas_male":0},"inbreedingcoeff":0.002,"mq":{"mq":59.25,"mqranksum":0.114},"pab_max":1.0,"pos":18258282,"qd":13.34,"readposranksum":0.189,"ref":"A","rf":0.864744,"rsid":"rs373698592","sor":0.528,"type":"snp","vqslod":3.66,"vqsr_culprit":"FS"},"gnomad_genome":{"_license":"http://bit.ly/2I1cl1I","ac":{"ac":1,"ac_afr":0,"ac_afr_female":0,"ac_afr_male":0,"ac_amr":0,"ac_amr_female":0,"ac_amr_male":0,"ac_asj":0,"ac_asj_female":0,"ac_asj_male":0,"ac_eas":0,"ac_eas_female":0,"ac_eas_male":0,"ac_female":1,"ac_fin":0,"ac_fin_female":0,"ac_fin_male":0,"ac_male":0,"ac_nfe":1,"ac_nfe_est":0,"ac_nfe_female":1,"ac_nfe_male":0,"ac_nfe_nwe":0,"ac_nfe_onf":1,"ac_nfe_seu":0,"ac_oth":0,"ac_oth_female":0,"ac_oth_male":0},"af":{"af":0.0000318532,"af_afr":0.0,"af_afr_female":0.0,"af_afr_male":0.0,"af_amr":0.0,"af_amr_female":0.0,"af_amr_male":0.0,"af_asj":0.0,"af_asj_female":0.0,"af_asj_male":0.0,"af_eas":0.0,"af_eas_female":0.0,"af_eas_male":0.0,"af_female":0.0000718494,"af_fin":0.0,"af_fin_female":0.0,"af_fin_male":0.0,"af_male":0.0,"af_nfe":0.0000648088,"af_nfe_est":0.0,"af_nfe_female":0.000146886,"af_nfe_male":0.0,"af_nfe_nwe":0.0,"af_nfe_onf":0.000467727,"af_nfe_seu":0.0,"af_oth":0.0,"af_oth_female":0.0,"af_oth_male":0.0},"alleles":"T","alt":"T","an":{"an":31394,"an_afr":8708,"an_afr_female":3674,"an_afr_male":5034,"an_amr":848,"an_amr_female":414,"an_amr_male":434,"an_asj":290,"an_asj_female":80,"an_asj_male":210,"an_eas":1560,"an_eas_female":538,"an_eas_male":1022,"an_female":13918,"an_fin":3472,"an_fin_female":1842,"an_fin_male":1630,"an_male":17476,"an_nfe":15430,"an_nfe_est":4590,"an_nfe_female":6808,"an_nfe_male":8622,"an_nfe_nwe":8596,"an_nfe_onf":2138,"an_nfe_seu":106,"an_oth":1086,"an_oth_female":562,"an_oth_male":524},"baseqranksum":-2.239,"chrom":"8","clippingranksum":-0.027,"dp":622957,"fs":13.465,"hom":{"hom":0,"hom_afr":0,"hom_afr_female":0,"hom_afr_male":0,"hom_amr":0,"hom_amr_female":0,"hom_amr_male":0,"hom_asj":0,"hom_asj_female":0,"hom_asj_male":0,"hom_eas":0,"hom_eas_female":0,"hom_eas_male":0,"hom_female":0,"hom_fin":0,"hom_fin_female":0,"hom_fin_male":0,"hom_male":0,"hom_nfe":0,"hom_nfe_est":0,"hom_nfe_female":0,"hom_nfe_male":0,"hom_nfe_nwe":0,"hom_nfe_onf":0,"hom_nfe_seu":0,"hom_oth":0,"hom_oth_female":0,"hom_oth_male":0},"inbreedingcoeff":0.0478,"mq":{"mq":60.0,"mqranksum":-0.048},"pab_max":1.0,"pos":18258282,"qd":10.41,"readposranksum":0.539,"ref":"A","rf":0.276104,"rsid":"rs373698592","sor":2.498,"type":"snp","vqslod":14.14,"vqsr_culprit":"MQ"},"hg19":{"end":18258282,"start":18258282},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":{"cdna":{"length":"1317","position":"876"},"cds":{"length":"873","position":"769"},"effect":"missense_variant","feature_id":"NM_000015.2","feature_type":"transcript","gene_id":"NAT2","genename":"NAT2","hgvs_c":"c.769A>T","hgvs_p":"p.Thr257Ser","protein":{"length":"290","position":"257"},"putative_impact":"MODERATE","rank":"2","total":"2","transcript_biotype":"protein_coding"}},"vcf":{"alt":"T","position":"18258282","ref":"A"}}