[{"allele_string":"A/G","start":44891338,"most_severe_consequence":"missense_variant","assembly_name":"GRCh38","colocated_variants":[{"start":44891338,"end":44891338,"seq_region_name":"22","frequencies":{"G":{"gnomadg_amr":0.0006534,"gnomade_mid":0.00104,"gnomade_eas":0,"afr":0.0121,"eas":0,"gnomadg_eas":0,"eur":0,"gnomadg_asj":0,"gnomadg_afr":0.009095,"af":0.0032,"gnomade":0.0002956,"gnomadg_remaining":0.0009461,"gnomadg_mid":0,"sas":0,"gnomade_remaining":0.000563,"gnomade_asj":0,"gnomadg_nfe":4.411e-05,"gnomadg_ami":0,"amr":0,"gnomadg_sas":0.0004143,"gnomadg":0.002594,"gnomade_amr":0.0004476,"gnomade_nfe":4.766e-05,"gnomade_fin":0,"gnomade_afr":0.009409,"gnomadg_fin":0,"gnomade_sas":4.645e-05}},"allele_string":"T/C/G","id":"rs115264708","strand":1}],"transcript_consequences":[{"trembl":["A0A0S2Z6R3.49"],"consequence_terms":["missense_variant"],"polyphen_score":0.015,"codons":"tAt/tGt","domains":[{"name":"PTHR24102","db":"PANTHER"},{"db":"ENSP_mappings","name":"AF"}],"swissprot":["Q96EK2.164"],"biotype":"protein_coding","gene_symbol":"PHF21B","transcript_id":"ENST00000313237","polyphen_prediction":"benign","mane":["MANE_Select"],"gene_symbol_source":"HGNC","strand":-1,"mane_select":"NM_138415.5","amino_acids":"Y/C","protein_end":328,"protein_start":328,"uniprot_isoform":["Q96EK2-1"],"hgnc_id":"HGNC:25161","sift_score":0.06,"cds_start":983,"cdna_start":1439,"impact":"MODERATE","gene_id":"ENSG00000056487","variant_allele":"G","cds_end":983,"uniparc":["UPI0000072111"],"cdna_end":1439,"sift_prediction":"tolerated"},{"strand":-1,"gene_symbol_source":"HGNC","cdna_end":1049,"uniparc":["UPI002B503CFA"],"transcript_id":"ENST00000403565","consequence_terms":["3_prime_UTR_variant","NMD_transcript_variant"],"trembl":["B1AHC5.129"],"gene_id":"ENSG00000056487","gene_symbol":"PHF21B","variant_allele":"G","hgnc_id":"HGNC:25161","impact":"MODIFIER","cdna_start":1049,"biotype":"nonsense_mediated_decay"},{"sift_prediction":"deleterious","cdna_end":515,"cds_end":371,"uniparc":["UPI00003E2896"],"gene_id":"ENSG00000056487","variant_allele":"G","sift_score":0.03,"cdna_start":515,"hgnc_id":"HGNC:25161","cds_start":371,"impact":"MODERATE","protein_start":124,"protein_end":124,"amino_acids":"Y/C","strand":-1,"gene_symbol_source":"HGNC","polyphen_prediction":"benign","transcript_id":"ENST00000414269","gene_symbol":"PHF21B","biotype":"protein_coding","domains":[{"db":"PANTHER","name":"PTHR24102"},{"name":"AF","db":"ENSP_mappings"}],"consequence_terms":["missense_variant"],"codons":"tAt/tGt","polyphen_score":0.003,"trembl":["B1AHC6.81"]},{"cds_start":821,"sift_score":0.07,"hgnc_id":"HGNC:25161","impact":"MODERATE","cdna_start":996,"gene_id":"ENSG00000056487","variant_allele":"G","uniprot_isoform":["Q96EK2-4"],"protein_start":274,"protein_end":274,"sift_prediction":"tolerated","uniparc":["UPI0001914E18"],"cds_end":821,"cdna_end":996,"biotype":"protein_coding","gene_symbol":"PHF21B","domains":[{"db":"PANTHER","name":"PTHR24102"},{"name":"AF","db":"ENSP_mappings"}],"swissprot":["Q96EK2.164"],"codons":"tAt/tGt","consequence_terms":["missense_variant"],"polyphen_score":0.009,"trembl":["B0QYW2.94"],"amino_acids":"Y/C","strand":-1,"gene_symbol_source":"HGNC","transcript_id":"ENST00000420689","polyphen_prediction":"benign"},{"cdna_end":1330,"cds_end":857,"uniparc":["UPI000020795B"],"sift_prediction":"tolerated","protein_end":286,"protein_start":286,"uniprot_isoform":["Q96EK2-3"],"gene_id":"ENSG00000056487","variant_allele":"G","sift_score":0.07,"hgnc_id":"HGNC:25161","cdna_start":1330,"cds_start":857,"impact":"MODERATE","polyphen_prediction":"benign","transcript_id":"ENST00000629843","strand":-1,"gene_symbol_source":"HGNC","amino_acids":"Y/C","trembl":["A0A0S2Z665.47"],"polyphen_score":0.035,"consequence_terms":["missense_variant"],"codons":"tAt/tGt","swissprot":["Q96EK2.164"],"domains":[{"db":"PANTHER","name":"PTHR24102"},{"name":"AF","db":"ENSP_mappings"}],"gene_symbol":"PHF21B","biotype":"protein_coding"},{"domains":[{"db":"PANTHER","name":"PTHR24102"}],"biotype":"protein_coding","gene_symbol":"PHF21B","codons":"tAt/tGt","consequence_terms":["missense_variant"],"amino_acids":"Y/C","transcript_id":"ENST00000924685","strand":-1,"gene_symbol_source":"HGNC","impact":"MODERATE","sift_score":0.11,"cds_start":857,"hgnc_id":"HGNC:25161","cdna_start":1330,"variant_allele":"G","gene_id":"ENSG00000056487","protein_end":286,"protein_start":286,"sift_prediction":"tolerated","cds_end":857,"cdna_end":1330},{"amino_acids":"Y/C","transcript_id":"ENST00001030178","gene_symbol_source":"HGNC","strand":-1,"gene_symbol":"PHF21B","biotype":"nonsense_mediated_decay","trembl":["A0A0S2Z615.15"],"consequence_terms":["missense_variant","NMD_transcript_variant"],"codons":"tAt/tGt","sift_prediction":"tolerated","cdna_end":1296,"uniparc":["UPI0003E64F79"],"cds_end":857,"gene_id":"ENSG00000056487","variant_allele":"G","cds_start":857,"sift_score":0.08,"impact":"MODERATE","cdna_start":1296,"hgnc_id":"HGNC:25161","protein_end":286,"protein_start":286},{"uniparc":["UPI0000072111"],"cds_end":983,"cdna_end":1456,"sift_prediction":"tolerated","protein_end":328,"protein_start":328,"hgnc_id":"HGNC:25161","sift_score":0.06,"cds_start":983,"cdna_start":1456,"impact":"MODERATE","gene_id":"ENSG00000056487","variant_allele":"G","transcript_id":"ENST00001135637","polyphen_prediction":"benign","strand":-1,"gene_symbol_source":"HGNC","amino_acids":"Y/C","trembl":["A0A0S2Z6R3.49"],"consequence_terms":["missense_variant"],"codons":"tAt/tGt","polyphen_score":0.015,"domains":[{"name":"PTHR24102","db":"PANTHER"}],"biotype":"protein_coding","gene_symbol":"PHF21B"}],"end":44891338,"strand":-1,"id":"ENSP00000401091.1:p.Tyr124Cys","input":"ENSP00000401091.1:p.Tyr124Cys","seq_region_name":"22"}]