[{"id":"ENSP00000401091.1:p.Tyr124Cys","most_severe_consequence":"missense_variant","allele_string":"A/G","input":"ENSP00000401091.1:p.Tyr124Cys","end":44891338,"start":44891338,"assembly_name":"GRCh38","strand":-1,"colocated_variants":[{"strand":1,"end":44891338,"seq_region_name":"22","id":"rs115264708","frequencies":{"G":{"gnomade_fin":0,"gnomade_nfe":4.766e-05,"eur":0,"gnomadg_ami":0,"gnomade_remaining":0.000563,"gnomadg_amr":0.0006534,"gnomadg":0.002594,"af":0.0032,"gnomade_asj":0,"gnomadg_remaining":0.0009461,"gnomade_sas":4.645e-05,"gnomadg_fin":0,"amr":0,"gnomade":0.0002956,"gnomade_afr":0.009409,"gnomadg_asj":0,"gnomade_amr":0.0004476,"gnomadg_mid":0,"afr":0.0121,"gnomadg_nfe":4.411e-05,"eas":0,"gnomadg_afr":0.009095,"gnomadg_sas":0.0004143,"gnomade_mid":0.00104,"sas":0,"gnomadg_eas":0,"gnomade_eas":0}},"allele_string":"T/C/G","start":44891338}],"seq_region_name":"22","transcript_consequences":[{"gene_id":"ENSG00000056487","hgnc_id":"HGNC:25161","cds_end":983,"sift_score":0.06,"gene_symbol_source":"HGNC","codons":"tAt/tGt","cdna_start":1439,"strand":-1,"amino_acids":"Y/C","consequence_terms":["missense_variant"],"gene_symbol":"PHF21B","transcript_id":"ENST00000313237","polyphen_prediction":"benign","biotype":"protein_coding","protein_start":328,"polyphen_score":0.015,"cds_start":983,"cdna_end":1439,"variant_allele":"G","impact":"MODERATE","protein_end":328,"sift_prediction":"tolerated"},{"cdna_start":1049,"biotype":"nonsense_mediated_decay","gene_symbol_source":"HGNC","hgnc_id":"HGNC:25161","gene_id":"ENSG00000056487","transcript_id":"ENST00000403565","consequence_terms":["3_prime_UTR_variant","NMD_transcript_variant"],"gene_symbol":"PHF21B","impact":"MODIFIER","variant_allele":"G","strand":-1,"cdna_end":1049},{"biotype":"protein_coding","protein_start":124,"polyphen_score":0.003,"cdna_end":515,"cds_start":371,"variant_allele":"G","impact":"MODERATE","sift_prediction":"deleterious","protein_end":124,"cds_end":371,"gene_id":"ENSG00000056487","hgnc_id":"HGNC:25161","gene_symbol_source":"HGNC","sift_score":0.03,"cdna_start":515,"codons":"tAt/tGt","strand":-1,"amino_acids":"Y/C","gene_symbol":"PHF21B","consequence_terms":["missense_variant"],"transcript_id":"ENST00000414269","polyphen_prediction":"benign"},{"variant_allele":"G","cds_start":821,"cdna_end":996,"protein_end":274,"sift_prediction":"tolerated","impact":"MODERATE","biotype":"protein_coding","protein_start":274,"polyphen_score":0.009,"amino_acids":"Y/C","strand":-1,"transcript_id":"ENST00000420689","polyphen_prediction":"benign","gene_symbol":"PHF21B","consequence_terms":["missense_variant"],"sift_score":0.07,"gene_symbol_source":"HGNC","hgnc_id":"HGNC:25161","gene_id":"ENSG00000056487","cds_end":821,"codons":"tAt/tGt","cdna_start":996},{"codons":"tAt/tGt","cdna_start":1313,"gene_symbol_source":"HGNC","sift_score":0.07,"cds_end":857,"gene_id":"ENSG00000056487","hgnc_id":"HGNC:25161","polyphen_prediction":"benign","transcript_id":"ENST00000629843","gene_symbol":"PHF21B","consequence_terms":["missense_variant"],"amino_acids":"Y/C","strand":-1,"polyphen_score":0.035,"biotype":"protein_coding","protein_start":286,"protein_end":286,"sift_prediction":"tolerated","impact":"MODERATE","variant_allele":"G","cds_start":857,"cdna_end":1313},{"variant_allele":"G","cdna_end":1330,"cds_start":857,"protein_end":286,"impact":"MODERATE","protein_start":286,"biotype":"protein_coding","amino_acids":"Y/C","strand":-1,"transcript_id":"ENST00000924685","consequence_terms":["missense_variant"],"gene_symbol":"PHF21B","gene_symbol_source":"HGNC","gene_id":"ENSG00000056487","hgnc_id":"HGNC:25161","cds_end":857,"codons":"tAt/tGt","cdna_start":1330}]}]