{"_id":"chr7:g.107973008C>A","_version":1,"chrom":"7","clingen":{"caid":"CA368874885"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"X","codon_degeneracy":[0,0,0],"codonpos":[1,1,1],"pos":[540,516,516],"ref":"G","refcodon":["GGA","GGA","GGA"]},"aloft":{"confidence":"High","fraction_transcripts_affected":"3/3","pred":"Recessive","prob_dominant":"0.39075","prob_recessive":"0.5989","prob_tolerant":"0.01035"},"alt":"A","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":"principal1","bayesdel":{"add_af":{"pred":"D","rankscore":0.99412,"score":0.625005},"no_af":{"pred":"D","rankscore":0.99401,"score":0.66}},"bstatistic":{"converted_rankscore":0.5226,"score":747.0},"cadd":{"phred":43.0,"raw_rankscore":0.99365,"raw_score":9.84116},"chagyrskaya_neandertal":["C","C"],"chrom":"7","dann":{"rankscore":0.71335,"score":0.9955448195747797},"denisova":["C","C"],"eigen":{"phred_coding":25.68324,"raw_coding":1.22038905690949,"raw_coding_rankscore":0.99715},"eigen-pc":{"phred_coding":25.80365,"raw_coding":1.08843201077805,"raw_coding_rankscore":0.99723},"ensembl":{"geneid":["ENSG00000091136","ENSG00000091136","ENSG00000091136"],"proteinid":["ENSP00000377191","ENSP00000222399","ENSP00000377190"],"transcriptid":["ENST00000393561","ENST00000222399","ENST00000393560"]},"fathmm-mkl":{"coding_group":"ALL","coding_pred":"D","coding_rankscore":0.79889,"coding_score":0.98134},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.42105,"coding_score":0.316898},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.45803,"score":0.59043},"h1-hesc":{"confidence_value":0,"rankscore":0.87919,"score":0.724815},"huvec":{"confidence_value":0,"rankscore":0.98432,"score":0.735409},"integrated":{"confidence_value":0,"rankscore":0.8544,"score":0.722319}},"gencode_basic":["Y","Y","Y"],"genename":["LAMB1","LAMB1","LAMB1"],"genocanyon":{"rankscore":0.98316,"score":1.0},"gerp":{"91_mammals":{"rankscore":0.93945,"score":5.44}},"gerp++":{"nr":6.03,"rs":6.03,"rs_rankscore":0.97798},"hg18":{"end":107400689,"start":107400689},"hg19":{"end":107613453,"start":107613453},"hg38":{"end":107973008,"start":107973008},"hgvsc":["c.1546G>T","c.1618G>T"],"hgvsp":["p.G516X","p.Gly540Ter","p.Gly516Ter","p.Gly540*","p.Gly516*","p.G540X"],"interpro":{"domain":["Laminin EGF domain|Laminin EGF domain|Laminin EGF domain","Laminin EGF domain|Laminin EGF domain|Laminin EGF domain","Laminin EGF domain|Laminin EGF domain|Laminin EGF domain"]},"mutationtaster":{"aae":["G516*","G516*","G540*"],"converted_rankscore":0.81001,"model":["complex_aae","complex_aae","complex_aae"],"pred":["A","A","A"],"score":[1.0,1.0,1.0]},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.41028,"score":0.864},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.81546,"score":7.568},"17way_primate":{"rankscore":0.4025,"score":0.599},"470way_mammalian":{"rankscore":0.66806,"score":7.711}},"ref":"C","siphy_29way":{"logodds_rankscore":0.99307,"logodds_score":20.5568,"pi":{"a":0.0,"c":1.0,"g":0.0,"t":0.0}},"tsl":[5,1,1],"uniprot":[{"acc":"G3XAI2","entry":"G3XAI2_HUMAN"},{"acc":"P07942","entry":"LAMB1_HUMAN"},{"acc":"E7EPA6","entry":"E7EPA6_HUMAN"}],"vep_canonical":"YES","vest4":{"rankscore":0.97426,"score":[0.936,0.93,0.964]},"vindijia_neandertal":["C","C"]},"hg38":{"end":107973008,"start":107973008},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":{"cdna":{"length":"5846","position":"1881"},"cds":{"length":"5361","position":"1546"},"effect":"stop_gained","feature_id":"NM_002291.2","feature_type":"transcript","gene_id":"LAMB1","genename":"LAMB1","hgvs_c":"c.1546G>T","hgvs_p":"p.Gly516*","protein":{"length":"1786","position":"516"},"putative_impact":"HIGH","rank":"13","total":"34","transcript_biotype":"protein_coding"},"lof":{"gene_id":"LAMB1","genename":"LAMB1","number_of_transcripts_in_gene":"1","percent_of_transcripts_affected":"1.00"},"nmd":{"gene_id":"LAMB1","genename":"LAMB1","number_of_transcripts_in_gene":"1","percent_of_transcripts_affected":"1.00"}},"vcf":{"alt":"A","position":"107973008","ref":"C"}}