{"_id":"chr17:g.3402196G>T","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"T","anc":"G","annotype":"CodingTranscript","bstatistic":823,"chmm":{"bivflnk":0.0,"enh":0.0,"enhbiv":0.0,"het":0.0,"quies":0.654,"reprpc":0.0,"reprpcwk":0.126,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.008,"txflnk":0.0,"txwk":0.15,"znfrpts":0.0},"chrom":17,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.03,"dna":{"helt":0.79,"mgw":1.03,"prot":-0.78,"roll":6.29},"dst2splice":12,"dst2spltype":"ACCEPTOR","encode":{"exp":1.24,"h3k27ac":2.0,"h3k4me1":2.0,"h3k4me3":4.4,"nucleo":0.3},"exon":"6/6","fitcons":0.617381,"gc":0.4,"gene":{"ccds_id":"CCDS11028.1","cds":{"cdna_pos":914,"cds_pos":756,"rel_cdna_pos":0.17,"rel_cds_pos":0.8},"feature_id":"ENST00000263080","gene_id":"ENSG00000108381","genename":"ASPA","prot":{"domain":"ndomain","protpos":252,"rel_prot_pos":0.81}},"gerp":{"n":5.76,"rs":605.8,"rs_pval":2.70483e-71,"s":5.76},"grantham":215,"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":187,"min_dist_tss":14867,"mutindex":-19,"naa":"C","oaa":"W","phast_cons":{"mammalian":1.0,"primate":0.995,"vertebrate":1.0},"phred":33,"phylop":{"mammalian":2.891,"primate":0.587,"vertebrate":5.648},"polyphen":{"cat":"probably_damaging","val":0.993},"pos":3402196,"rawscore":6.963195,"ref":"G","segway":"R0","sift":{"cat":"deleterious","val":0.01},"type":"SNV"},"chrom":"17","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"C","codon_degeneracy":[0,0],"codonpos":[3,3],"pos":[252,252],"ref":"W","refcodon":["TGG","TGG"]},"alphamissense":{"pred":["P","P"],"rankscore":0.91241,"score":[0.9805,0.9805]},"alt":"T","altai_neandertal":["G","G"],"ancestral_allele":"G","appris":["principal1","principal1"],"bayesdel":{"add_af":{"pred":"D","rankscore":0.95175,"score":0.530432},"no_af":{"pred":"D","rankscore":0.95103,"score":0.524153}},"bstatistic":{"converted_rankscore":0.53889,"score":734.0},"cds_strand":["+","+"],"chagyrskaya_neandertal":["G","G"],"chrom":"17","clinpred":{"pred":"D","rankscore":0.89989,"score":0.996744275093079},"dann":{"rankscore":0.6413,"score":0.9942847354009409},"denisova":["G","G"],"deogen2":{"pred":["D","D"],"rankscore":0.99928,"score":[0.987305,0.987305]},"eigen":{"phred_coding":11.39935,"raw_coding":0.913309016915941,"raw_coding_rankscore":0.92396},"eigen-pc":{"phred_coding":13.36024,"raw_coding":0.890702277338954,"raw_coding_rankscore":0.95155},"ensembl":{"geneid":["ENSG00000108381","ENSG00000108381"],"proteinid":["ENSP00000409976","ENSP00000263080"],"transcriptid":["ENST00000456349","ENST00000263080"]},"esm1b":{"pred":["T","T"],"rankscore":0.55932,"score":[-7.263,-7.263]},"eve":{"class10_pred":["P","P"],"class20_pred":["P","P"],"class25_pred":["P","P"],"class30_pred":["P","P"],"class40_pred":["P","P"],"class50_pred":["P","P"],"class60_pred":["P","P"],"class70_pred":["P","P"],"class75_pred":["P","P"],"class80_pred":["P","P"],"class90_pred":["P","P"],"rankscore":0.97363,"score":[0.9340789703293476,0.9340789703293476]},"fathmm":{"converted_rankscore":0.97849,"pred":["D","D"],"score":[-4.6,-4.6]},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.79881,"coding_score":0.98133},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.99544,"coding_score":0.974209},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.26702,"score":0.573888},"h1-hesc":{"confidence_value":0,"rankscore":0.07313,"score":0.475579},"huvec":{"confidence_value":0,"rankscore":0.26826,"score":0.564101},"integrated":{"confidence_value":0,"rankscore":0.14033,"score":0.487112}},"gencode_basic":["Y","Y"],"genename":["ASPA","ASPA"],"genocanyon":{"rankscore":0.74766,"score":0.999996746129454},"gerp++":{"nr":5.76,"rs":5.76,"rs_rankscore":0.90726},"gmvp":{"rankscore":0.94589,"score":0.9460737307244421},"hg18":{"end":3348946,"start":3348946},"hg19":{"end":3402196,"start":3402196},"hg38":{"end":3498902,"start":3498902},"hgvsc":"c.756G>T","hgvsp":["p.Trp252Cys","p.W252C"],"list-s2":{"pred":"D","rankscore":0.63428,"score":0.89481},"lrt":{"converted_rankscore":0.8433,"omega":0.0,"pred":"D","score":0.0},"m-cap":{"pred":"D","rankscore":0.95236,"score":0.506651},"metalr":{"pred":"D","rankscore":0.98629,"score":0.9576},"metarnn":{"pred":["D","D"],"rankscore":0.92486,"score":[0.9314855,0.9314855]},"metasvm":{"pred":"D","rankscore":0.99556,"score":1.0975},"mpc":{"rankscore":0.4898,"score":0.508147342474},"mutationassessor":{"pred":["M","M"],"rankscore":0.83903,"score":[2.9,2.9]},"mutationtaster":{"aae":["W252C","W252C"],"converted_rankscore":0.81001,"model":["without_aae","simple_aae","simple_aae"],"pred":["D","D","D"],"score":[1.0,1.0,1.0]},"mutformer":{"rankscore":0.97309,"score":0.9932628},"mutpred":{"aa_change":["W252C","W252C"],"accession":["P45381","P45381"],"pred":[{"mechanism":"Gain of glycosylation at K253","p_val":0.1661},{"mechanism":"Gain of glycosylation at K253","p_val":0.1661}],"rankscore":0.76141,"score":[0.626,0.626]},"mvp":{"rankscore":0.9868,"score":[0.986952443168,0.986952443168]},"phactboost":{"rankscore":0.97745,"score":[0.999743808504682,0.999743808504682]},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.79791,"score":0.997},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.82398,"score":7.63},"17way_primate":{"rankscore":0.50648,"score":0.618},"470way_mammalian":{"rankscore":0.96485,"score":11.795}},"polyphen2":{"hdiv":{"pred":["D","D"],"rankscore":0.90584,"score":[1.0,1.0]},"hvar":{"pred":["D","D"],"rankscore":0.80445,"score":[0.992,0.992]}},"primateai":{"pred":"T","rankscore":0.41614,"score":0.519907474518},"provean":{"converted_rankscore":0.91827,"pred":["D","D"],"score":[-6.55,-6.55]},"ref":"G","reliability_index":10,"revel":{"rankscore":0.97776,"score":[0.915,0.915]},"sift":{"converted_rankscore":0.72154,"pred":["D","D"],"score":[0.002,0.002]},"sift4g":{"converted_rankscore":0.64786,"pred":["D","D"],"score":[0.011,0.011]},"siphy_29way":{"logodds_rankscore":0.94255,"logodds_score":19.3276,"pi":{"a":0.0,"c":0.0,"g":1.0,"t":0.0}},"tsl":[1,1],"uniprot":[{"acc":"P45381","entry":"ACY2_HUMAN"},{"acc":"P45381","entry":"ACY2_HUMAN"}],"varity":{"er":{"rankscore":0.88587,"score":[0.8050568,0.8050568]},"er_loo":{"rankscore":0.88588,"score":[0.8050568,0.8050568]},"r":{"rankscore":0.92917,"score":[0.9165778,0.9165778]},"r_loo":{"rankscore":0.92918,"score":[0.9165778,0.9165778]}},"vep_canonical":"YES","vest4":{"rankscore":0.90476,"score":[0.904,0.816]},"vindijia_neandertal":["G","G"]},"hg19":{"end":3402196,"start":3402196},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"effect":"structural_interaction_variant","feature_id":"2I3C:A_122-A_252:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2I3C:A_252-A_280:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2I3C:B_122-B_252:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2I3C:B_252-B_280:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2O4H:A_122-A_252:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2O4H:A_252-A_280:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2O4H:B_122-B_252:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2O4H:B_252-B_280:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2O53:A_122-A_252:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2O53:A_252-A_280:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2O53:B_122-B_252:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2O53:B_252-B_280:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2Q51:A_122-A_252:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2Q51:A_125-A_252:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2Q51:A_252-A_279:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2Q51:A_252-A_280:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2Q51:B_252-B_280:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MRI:A_122-A_252:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MRI:A_252-A_280:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MRI:B_122-B_252:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MRI:B_252-B_279:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MRI:B_252-B_280:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MXU:A_122-A_252:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MXU:A_252-A_280:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MXU:B_122-B_252:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MXU:B_252-B_280:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4NFR:A_252-A_280:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4NFR:B_252-B_280:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4TNU:A_122-A_252:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4TNU:A_252-A_280:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4TNU:B_122-B_252:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4TNU:B_252-B_280:NM_000049.2","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2I3C:A_122-A_252:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2I3C:A_252-A_280:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2I3C:B_122-B_252:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2I3C:B_252-B_280:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2O4H:A_122-A_252:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2O4H:A_252-A_280:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2O4H:B_122-B_252:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2O4H:B_252-B_280:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2O53:A_122-A_252:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2O53:A_252-A_280:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2O53:B_122-B_252:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2O53:B_252-B_280:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2Q51:A_122-A_252:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2Q51:A_125-A_252:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2Q51:A_252-A_279:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2Q51:A_252-A_280:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"2Q51:B_252-B_280:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MRI:A_122-A_252:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MRI:A_252-A_280:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MRI:B_122-B_252:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MRI:B_252-B_279:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MRI:B_252-B_280:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MXU:A_122-A_252:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MXU:A_252-A_280:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MXU:B_122-B_252:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4MXU:B_252-B_280:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4NFR:A_252-A_280:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4NFR:B_252-B_280:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4TNU:A_122-A_252:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4TNU:A_252-A_280:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4TNU:B_122-B_252:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"structural_interaction_variant","feature_id":"4TNU:B_252-B_280:NM_001128085.1","feature_type":"interaction","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","putative_impact":"HIGH","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"cdna":{"length":"1418","position":"914"},"cds":{"length":"942","position":"756"},"effect":"missense_variant","feature_id":"NM_000049.2","feature_type":"transcript","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","hgvs_p":"p.Trp252Cys","protein":{"length":"313","position":"252"},"putative_impact":"MODERATE","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"cdna":{"length":"1351","position":"847"},"cds":{"length":"942","position":"756"},"effect":"missense_variant","feature_id":"NM_001128085.1","feature_type":"transcript","gene_id":"ASPA","genename":"ASPA","hgvs_c":"c.756G>T","hgvs_p":"p.Trp252Cys","protein":{"length":"313","position":"252"},"putative_impact":"MODERATE","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001321336.1","feature_type":"transcript","gene_id":"SPATA22","genename":"SPATA22","hgvs_c":"c.-74+14510C>A","putative_impact":"MODIFIER","rank":"1","total":"8","transcript_biotype":"protein_coding"},{"effect":"intron_variant","feature_id":"NM_001321337.1","feature_type":"transcript","gene_id":"SPATA22","genename":"SPATA22","hgvs_c":"c.-74+14510C>A","putative_impact":"MODIFIER","rank":"1","total":"8","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"T","position":"3402196","ref":"G"}}