{"_id":"chr6:g.12295963T>G","_version":1,"chrom":"6","clingen":{"caid":"CA362857220"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"A","codon_degeneracy":0,"codonpos":1,"pos":179,"ref":"S","refcodon":"TCG"},"alphamissense":{"pred":"B","rankscore":0.0856,"score":0.0816},"alt":"G","altai_neandertal":["T","T"],"ancestral_allele":"T","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.35977,"score":-0.102705},"no_af":{"pred":"T","rankscore":0.351,"score":-0.385305}},"bstatistic":{"converted_rankscore":0.38045,"score":836.0},"cadd":{"phred":18.01,"raw_rankscore":0.29081,"raw_score":2.27507},"cds_strand":"+","chagyrskaya_neandertal":["T","T"],"chrom":"6","clinpred":{"pred":"T","rankscore":0.09954,"score":0.0797409089617512},"dann":{"rankscore":0.07008,"score":0.6261583527334801},"denisova":["T","T"],"deogen2":{"pred":"T","rankscore":0.69291,"score":0.321846},"eigen":{"phred_coding":0.4810661,"raw_coding":-0.931993707360915,"raw_coding_rankscore":0.101},"eigen-pc":{"phred_coding":0.7692843,"raw_coding":-0.791745663415575,"raw_coding_rankscore":0.14698},"ensembl":{"geneid":"ENSG00000078401","proteinid":"ENSP00000368683","transcriptid":"ENST00000379375"},"esm1b":{"pred":"T","rankscore":0.15656,"score":-3.444},"eve":{"class10_pred":"U","class20_pred":"B","class25_pred":"B","class30_pred":"B","class40_pred":"B","class50_pred":"B","class60_pred":"B","class70_pred":"B","class75_pred":"B","class80_pred":"B","class90_pred":"B","rankscore":0.09959,"score":0.1135952456604592},"fathmm":{"converted_rankscore":0.8366,"pred":"D","score":-1.77},"fathmm-mkl":{"coding_group":"AEFDBCI","coding_pred":"D","coding_rankscore":0.34968,"coding_score":0.71334},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.34015,"coding_score":0.214712},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.7944,"score":0.708844},"h1-hesc":{"confidence_value":0,"rankscore":0.38828,"score":0.608075},"huvec":{"confidence_value":0,"rankscore":0.63696,"score":0.657601},"integrated":{"confidence_value":0,"rankscore":0.46895,"score":0.6512}},"gencode_basic":"Y","genename":"EDN1","genocanyon":{"rankscore":0.74766,"score":0.999999907716064},"gerp":{"91_mammals":{"rankscore":0.53161,"score":2.91}},"gerp++":{"nr":5.93,"rs":1.95,"rs_rankscore":0.2513},"gmvp":{"rankscore":0.07681,"score":0.07745654667128896},"hg18":{"end":12404182,"start":12404182},"hg19":{"end":12296196,"start":12296196},"hg38":{"end":12295963,"start":12295963},"hgvsc":"c.535T>G","hgvsp":["p.Ser179Ala","p.S179A"],"list-s2":{"pred":"T","rankscore":0.02194,"score":0.19748},"lrt":{"converted_rankscore":0.16211,"omega":0.612883,"pred":"N","score":0.217756},"m-cap":{"pred":"D","rankscore":0.63242,"score":0.048145},"metalr":{"pred":"T","rankscore":0.47165,"score":0.1468},"metarnn":{"pred":"T","rankscore":0.09272,"score":0.06699574},"metasvm":{"pred":"T","rankscore":0.325,"score":-0.9904},"mpc":{"rankscore":0.17216,"score":0.15258453143},"mutationassessor":{"pred":"L","rankscore":0.29295,"score":1.15},"mutationtaster":{"aae":"S179A","converted_rankscore":0.20333,"model":"simple_aae","pred":"N","score":0.999799},"mutformer":{"rankscore":0.9246,"score":0.93082696},"mutpred":{"aa_change":"S179A","accession":"P05305","pred":{"mechanism":"Loss of phosphorylation at S179","p_val":0.0221},"rankscore":0.10975,"score":0.197},"mvp":{"rankscore":0.53744,"score":0.540925512045},"phactboost":{"rankscore":0.06751,"score":0.000494542903991218},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.2725,"score":0.421},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.29888,"score":1.04},"17way_primate":{"rankscore":0.15115,"score":-0.11},"470way_mammalian":{"rankscore":0.35462,"score":2.903}},"polyphen2":{"hdiv":{"pred":"B","rankscore":0.07471,"score":0.001},"hvar":{"pred":"B","rankscore":0.06944,"score":0.002}},"primateai":{"pred":"T","rankscore":0.04934,"score":0.260363101959},"provean":{"converted_rankscore":0.03761,"pred":"N","score":0.35},"ref":"T","reliability_index":10,"revel":{"rankscore":0.36778,"score":0.136},"sift":{"converted_rankscore":0.224,"pred":"T","score":0.175},"sift4g":{"converted_rankscore":0.11371,"pred":"T","score":0.495},"siphy_29way":{"logodds_rankscore":0.06521,"logodds_score":3.2852,"pi":{"a":0.2313,"c":0.071,"g":0.1177,"t":0.58}},"tsl":1,"uniprot":{"acc":"P05305","entry":"EDN1_HUMAN"},"varity":{"er":{"rankscore":0.03214,"score":0.036851734},"er_loo":{"rankscore":0.03214,"score":0.036851734},"r":{"rankscore":0.08988,"score":0.0500681},"r_loo":{"rankscore":0.08988,"score":0.0500681}},"vep_canonical":"YES","vest4":{"rankscore":0.07673,"score":0.096},"vindijia_neandertal":["T","T"]},"hg38":{"end":12295963,"start":12295963},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"2100","position":"869"},"cds":{"length":"639","position":"535"},"effect":"missense_variant&splice_region_variant","feature_id":"NM_001955.4","feature_type":"transcript","gene_id":"EDN1","genename":"EDN1","hgvs_c":"c.535T>G","hgvs_p":"p.Ser179Ala","protein":{"length":"212","position":"179"},"putative_impact":"MODERATE","rank":"5","total":"5","transcript_biotype":"protein_coding"},{"cdna":{"length":"2097","position":"866"},"cds":{"length":"636","position":"532"},"effect":"missense_variant&splice_region_variant","feature_id":"NM_001168319.1","feature_type":"transcript","gene_id":"EDN1","genename":"EDN1","hgvs_c":"c.532T>G","hgvs_p":"p.Ser178Ala","protein":{"length":"211","position":"178"},"putative_impact":"MODERATE","rank":"5","total":"5","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"G","position":"12295963","ref":"T"}}