[{"assembly_name":"GRCh38","end":214752454,"input":"rs28997576","most_severe_consequence":"missense_variant","allele_string":"C/A/G/T","transcript_consequences":[{"cdna_start":1784,"gene_symbol":"BARD1","variant_allele":"A","hgnc_id":"HGNC:952","transcript_id":"ENST00000260947","strand":-1,"cdna_end":1784,"sift_score":0.49,"protein_end":557,"cds_start":1670,"gene_id":"ENSG00000138376","polyphen_prediction":"benign","cds_end":1670,"codons":"tGc/tTc","impact":"MODERATE","protein_start":557,"sift_prediction":"tolerated","biotype":"protein_coding","consequence_terms":["missense_variant"],"polyphen_score":0.116,"gene_symbol_source":"HGNC","amino_acids":"C/F"},{"strand":-1,"transcript_id":"ENST00000260947","hgnc_id":"HGNC:952","variant_allele":"G","gene_symbol":"BARD1","cdna_start":1784,"polyphen_prediction":"benign","gene_id":"ENSG00000138376","cds_start":1670,"sift_score":0.51,"protein_end":557,"cdna_end":1784,"protein_start":557,"impact":"MODERATE","codons":"tGc/tCc","cds_end":1670,"amino_acids":"C/S","gene_symbol_source":"HGNC","consequence_terms":["missense_variant"],"polyphen_score":0.015,"sift_prediction":"tolerated","biotype":"protein_coding"},{"strand":-1,"transcript_id":"ENST00000260947","cdna_start":1784,"gene_symbol":"BARD1","variant_allele":"T","hgnc_id":"HGNC:952","cds_start":1670,"gene_id":"ENSG00000138376","polyphen_prediction":"benign","sift_score":0.72,"protein_end":557,"cdna_end":1784,"protein_start":557,"impact":"MODERATE","cds_end":1670,"codons":"tGc/tAc","gene_symbol_source":"HGNC","amino_acids":"C/Y","biotype":"protein_coding","sift_prediction":"tolerated","polyphen_score":0.005,"consequence_terms":["missense_variant"]},{"biotype":"protein_coding","sift_prediction":"tolerated","polyphen_score":0.09,"consequence_terms":["missense_variant"],"gene_symbol_source":"HGNC","amino_acids":"C/F","cds_end":317,"codons":"tGc/tTc","protein_start":106,"impact":"MODERATE","sift_score":0.2,"protein_end":106,"cdna_end":345,"cds_start":317,"polyphen_prediction":"benign","gene_id":"ENSG00000138376","gene_symbol":"BARD1","cdna_start":345,"hgnc_id":"HGNC:952","variant_allele":"A","strand":-1,"transcript_id":"ENST00000421162"},{"protein_start":106,"impact":"MODERATE","cds_end":317,"codons":"tGc/tCc","gene_symbol_source":"HGNC","amino_acids":"C/S","biotype":"protein_coding","sift_prediction":"tolerated","polyphen_score":0.018,"consequence_terms":["missense_variant"],"strand":-1,"transcript_id":"ENST00000421162","cdna_start":345,"gene_symbol":"BARD1","hgnc_id":"HGNC:952","variant_allele":"G","cds_start":317,"polyphen_prediction":"benign","gene_id":"ENSG00000138376","protein_end":106,"sift_score":0.48,"cdna_end":345},{"variant_allele":"T","hgnc_id":"HGNC:952","gene_symbol":"BARD1","cdna_start":345,"strand":-1,"transcript_id":"ENST00000421162","sift_score":0.37,"protein_end":106,"cdna_end":345,"polyphen_prediction":"benign","gene_id":"ENSG00000138376","cds_start":317,"codons":"tGc/tAc","cds_end":317,"protein_start":106,"impact":"MODERATE","polyphen_score":0.007,"consequence_terms":["missense_variant"],"sift_prediction":"tolerated","biotype":"protein_coding","amino_acids":"C/Y","gene_symbol_source":"HGNC"},{"gene_symbol_source":"HGNC","gene_id":"ENSG00000138376","biotype":"nonsense_mediated_decay","cdna_end":1625,"consequence_terms":["3_prime_UTR_variant","NMD_transcript_variant"],"impact":"MODIFIER","transcript_id":"ENST00000455743","strand":-1,"gene_symbol":"BARD1","cdna_start":1625,"hgnc_id":"HGNC:952","variant_allele":"A"},{"gene_symbol":"BARD1","cdna_start":1625,"hgnc_id":"HGNC:952","variant_allele":"G","transcript_id":"ENST00000455743","impact":"MODIFIER","strand":-1,"biotype":"nonsense_mediated_decay","consequence_terms":["3_prime_UTR_variant","NMD_transcript_variant"],"cdna_end":1625,"gene_symbol_source":"HGNC","gene_id":"ENSG00000138376"},{"gene_symbol":"BARD1","cdna_start":1625,"hgnc_id":"HGNC:952","variant_allele":"T","transcript_id":"ENST00000455743","impact":"MODIFIER","strand":-1,"biotype":"nonsense_mediated_decay","cdna_end":1625,"consequence_terms":["3_prime_UTR_variant","NMD_transcript_variant"],"gene_symbol_source":"HGNC","gene_id":"ENSG00000138376"},{"gene_id":"ENSG00000138376","gene_symbol_source":"HGNC","cdna_end":25,"consequence_terms":["non_coding_transcript_exon_variant"],"biotype":"retained_intron","strand":-1,"transcript_id":"ENST00000465841","impact":"MODIFIER","hgnc_id":"HGNC:952","variant_allele":"A","gene_symbol":"BARD1","cdna_start":25},{"impact":"MODIFIER","transcript_id":"ENST00000465841","strand":-1,"gene_symbol":"BARD1","cdna_start":25,"variant_allele":"G","hgnc_id":"HGNC:952","gene_symbol_source":"HGNC","gene_id":"ENSG00000138376","biotype":"retained_intron","cdna_end":25,"consequence_terms":["non_coding_transcript_exon_variant"]},{"variant_allele":"T","hgnc_id":"HGNC:952","gene_symbol":"BARD1","cdna_start":25,"strand":-1,"transcript_id":"ENST00000465841","impact":"MODIFIER","cdna_end":25,"consequence_terms":["non_coding_transcript_exon_variant"],"biotype":"retained_intron","gene_id":"ENSG00000138376","gene_symbol_source":"HGNC"},{"gene_symbol":"BARD1","hgnc_id":"HGNC:952","variant_allele":"A","transcript_id":"ENST00000613192","impact":"MODIFIER","strand":-1,"biotype":"nonsense_mediated_decay","consequence_terms":["intron_variant","NMD_transcript_variant"],"gene_symbol_source":"HGNC","gene_id":"ENSG00000138376"},{"gene_id":"ENSG00000138376","gene_symbol_source":"HGNC","consequence_terms":["intron_variant","NMD_transcript_variant"],"biotype":"nonsense_mediated_decay","transcript_id":"ENST00000613192","impact":"MODIFIER","strand":-1,"variant_allele":"G","hgnc_id":"HGNC:952","gene_symbol":"BARD1"},{"strand":-1,"impact":"MODIFIER","transcript_id":"ENST00000613192","gene_symbol":"BARD1","variant_allele":"T","hgnc_id":"HGNC:952","gene_symbol_source":"HGNC","gene_id":"ENSG00000138376","biotype":"nonsense_mediated_decay","consequence_terms":["intron_variant","NMD_transcript_variant"]},{"cds_end":260,"codons":"tGc/tTc","impact":"MODERATE","protein_start":87,"sift_prediction":"tolerated","biotype":"protein_coding","consequence_terms":["missense_variant"],"polyphen_score":0.137,"gene_symbol_source":"HGNC","amino_acids":"C/F","cdna_start":333,"gene_symbol":"BARD1","variant_allele":"A","hgnc_id":"HGNC:952","transcript_id":"ENST00000613374","strand":-1,"cdna_end":333,"sift_score":0.13,"protein_end":87,"cds_start":260,"gene_id":"ENSG00000138376","polyphen_prediction":"benign"},{"gene_symbol_source":"HGNC","amino_acids":"C/S","sift_prediction":"tolerated","biotype":"protein_coding","consequence_terms":["missense_variant"],"polyphen_score":0.112,"protein_start":87,"impact":"MODERATE","cds_end":260,"codons":"tGc/tCc","cds_start":260,"gene_id":"ENSG00000138376","polyphen_prediction":"benign","protein_end":87,"sift_score":0.35,"cdna_end":333,"strand":-1,"transcript_id":"ENST00000613374","cdna_start":333,"gene_symbol":"BARD1","hgnc_id":"HGNC:952","variant_allele":"G"},{"sift_score":0.24,"protein_end":87,"cdna_end":333,"cds_start":260,"gene_id":"ENSG00000138376","polyphen_prediction":"benign","cdna_start":333,"gene_symbol":"BARD1","hgnc_id":"HGNC:952","variant_allele":"T","strand":-1,"transcript_id":"ENST00000613374","sift_prediction":"tolerated","biotype":"protein_coding","consequence_terms":["missense_variant"],"polyphen_score":0.006,"gene_symbol_source":"HGNC","amino_acids":"C/Y","cds_end":260,"codons":"tGc/tAc","protein_start":87,"impact":"MODERATE"},{"cds_start":1262,"polyphen_prediction":"benign","gene_id":"ENSG00000138376","cdna_end":1376,"protein_end":421,"sift_score":0.61,"transcript_id":"ENST00000613706","strand":-1,"cdna_start":1376,"gene_symbol":"BARD1","hgnc_id":"HGNC:952","variant_allele":"A","gene_symbol_source":"HGNC","amino_acids":"C/F","sift_prediction":"tolerated","biotype":"protein_coding","polyphen_score":0.091,"consequence_terms":["missense_variant"],"impact":"MODERATE","protein_start":421,"cds_end":1262,"codons":"tGc/tTc"},{"transcript_id":"ENST00000613706","strand":-1,"cdna_start":1376,"gene_symbol":"BARD1","variant_allele":"G","hgnc_id":"HGNC:952","cds_start":1262,"gene_id":"ENSG00000138376","polyphen_prediction":"benign","cdna_end":1376,"sift_score":0.58,"protein_end":421,"impact":"MODERATE","protein_start":421,"cds_end":1262,"codons":"tGc/tCc","gene_symbol_source":"HGNC","amino_acids":"C/S","sift_prediction":"tolerated","biotype":"protein_coding","polyphen_score":0.06,"consequence_terms":["missense_variant"]},{"gene_symbol_source":"HGNC","amino_acids":"C/Y","biotype":"protein_coding","sift_prediction":"tolerated","polyphen_score":0.031,"consequence_terms":["missense_variant"],"protein_start":421,"impact":"MODERATE","cds_end":1262,"codons":"tGc/tAc","cds_start":1262,"polyphen_prediction":"benign","gene_id":"ENSG00000138376","sift_score":0.88,"protein_end":421,"cdna_end":1376,"strand":-1,"transcript_id":"ENST00000613706","gene_symbol":"BARD1","cdna_start":1376,"variant_allele":"T","hgnc_id":"HGNC:952"},{"transcript_id":"ENST00000617164","strand":-1,"hgnc_id":"HGNC:952","variant_allele":"A","cdna_start":1686,"gene_symbol":"BARD1","polyphen_prediction":"benign","gene_id":"ENSG00000138376","cds_start":1613,"cdna_end":1686,"sift_score":0.69,"protein_end":538,"impact":"MODERATE","protein_start":538,"codons":"tGc/tTc","cds_end":1613,"amino_acids":"C/F","gene_symbol_source":"HGNC","consequence_terms":["missense_variant"],"polyphen_score":0.102,"biotype":"protein_coding","sift_prediction":"tolerated"},{"impact":"MODERATE","protein_start":538,"cds_end":1613,"codons":"tGc/tCc","gene_symbol_source":"HGNC","amino_acids":"C/S","sift_prediction":"tolerated","biotype":"protein_coding","consequence_terms":["missense_variant"],"polyphen_score":0.03,"transcript_id":"ENST00000617164","strand":-1,"gene_symbol":"BARD1","cdna_start":1686,"hgnc_id":"HGNC:952","variant_allele":"G","cds_start":1613,"gene_id":"ENSG00000138376","polyphen_prediction":"benign","cdna_end":1686,"protein_end":538,"sift_score":0.56},{"cds_end":1613,"codons":"tGc/tAc","impact":"MODERATE","protein_start":538,"biotype":"protein_coding","sift_prediction":"tolerated","consequence_terms":["missense_variant"],"polyphen_score":0.006,"gene_symbol_source":"HGNC","amino_acids":"C/Y","gene_symbol":"BARD1","cdna_start":1686,"hgnc_id":"HGNC:952","variant_allele":"T","transcript_id":"ENST00000617164","strand":-1,"cdna_end":1686,"sift_score":1,"protein_end":538,"cds_start":1613,"gene_id":"ENSG00000138376","polyphen_prediction":"benign"},{"strand":-1,"impact":"MODIFIER","transcript_id":"ENST00000619009","gene_symbol":"BARD1","hgnc_id":"HGNC:952","variant_allele":"A","gene_symbol_source":"HGNC","gene_id":"ENSG00000138376","biotype":"protein_coding","consequence_terms":["intron_variant"]},{"gene_id":"ENSG00000138376","gene_symbol_source":"HGNC","consequence_terms":["intron_variant"],"biotype":"protein_coding","strand":-1,"transcript_id":"ENST00000619009","impact":"MODIFIER","variant_allele":"G","hgnc_id":"HGNC:952","gene_symbol":"BARD1"},{"biotype":"protein_coding","consequence_terms":["intron_variant"],"gene_symbol_source":"HGNC","gene_id":"ENSG00000138376","gene_symbol":"BARD1","hgnc_id":"HGNC:952","variant_allele":"T","transcript_id":"ENST00000619009","impact":"MODIFIER","strand":-1},{"gene_id":"ENSG00000138376","gene_symbol_source":"HGNC","consequence_terms":["3_prime_UTR_variant","NMD_transcript_variant"],"cdna_end":793,"biotype":"nonsense_mediated_decay","strand":-1,"impact":"MODIFIER","transcript_id":"ENST00000620057","variant_allele":"A","hgnc_id":"HGNC:952","gene_symbol":"BARD1","cdna_start":793},{"variant_allele":"G","hgnc_id":"HGNC:952","gene_symbol":"BARD1","cdna_start":793,"strand":-1,"impact":"MODIFIER","transcript_id":"ENST00000620057","consequence_terms":["3_prime_UTR_variant","NMD_transcript_variant"],"cdna_end":793,"biotype":"nonsense_mediated_decay","gene_id":"ENSG00000138376","gene_symbol_source":"HGNC"},{"consequence_terms":["3_prime_UTR_variant","NMD_transcript_variant"],"cdna_end":793,"biotype":"nonsense_mediated_decay","gene_id":"ENSG00000138376","gene_symbol_source":"HGNC","hgnc_id":"HGNC:952","variant_allele":"T","cdna_start":793,"gene_symbol":"BARD1","impact":"MODIFIER","transcript_id":"ENST00000620057","strand":-1},{"gene_symbol_source":"HGNC","gene_id":"ENSG00000138376","biotype":"nonsense_mediated_decay","consequence_terms":["3_prime_UTR_variant","NMD_transcript_variant"],"cdna_end":3045,"impact":"MODIFIER","transcript_id":"ENST00000650978","strand":-1,"flags":["cds_start_NF"],"gene_symbol":"BARD1","cdna_start":3045,"variant_allele":"A","hgnc_id":"HGNC:952"},{"variant_allele":"G","hgnc_id":"HGNC:952","gene_symbol":"BARD1","cdna_start":3045,"transcript_id":"ENST00000650978","impact":"MODIFIER","flags":["cds_start_NF"],"strand":-1,"consequence_terms":["3_prime_UTR_variant","NMD_transcript_variant"],"cdna_end":3045,"biotype":"nonsense_mediated_decay","gene_id":"ENSG00000138376","gene_symbol_source":"HGNC"},{"biotype":"nonsense_mediated_decay","cdna_end":3045,"consequence_terms":["3_prime_UTR_variant","NMD_transcript_variant"],"gene_symbol_source":"HGNC","gene_id":"ENSG00000138376","gene_symbol":"BARD1","cdna_start":3045,"hgnc_id":"HGNC:952","variant_allele":"T","transcript_id":"ENST00000650978","impact":"MODIFIER","flags":["cds_start_NF"],"strand":-1},{"protein_start":558,"impact":"MODERATE","codons":"tGc/tTc","cds_end":1673,"amino_acids":"C/F","gene_symbol_source":"HGNC","consequence_terms":["missense_variant"],"biotype":"protein_coding","strand":-1,"transcript_id":"ENST00000887324","hgnc_id":"HGNC:952","variant_allele":"A","gene_symbol":"BARD1","cdna_start":1811,"gene_id":"ENSG00000138376","cds_start":1673,"protein_end":558,"cdna_end":1811},{"gene_id":"ENSG00000138376","cds_start":1673,"cdna_end":1811,"protein_end":558,"transcript_id":"ENST00000887324","strand":-1,"hgnc_id":"HGNC:952","variant_allele":"G","cdna_start":1811,"gene_symbol":"BARD1","amino_acids":"C/S","gene_symbol_source":"HGNC","consequence_terms":["missense_variant"],"biotype":"protein_coding","impact":"MODERATE","protein_start":558,"codons":"tGc/tCc","cds_end":1673},{"consequence_terms":["missense_variant"],"biotype":"protein_coding","amino_acids":"C/Y","gene_symbol_source":"HGNC","codons":"tGc/tAc","cds_end":1673,"protein_start":558,"impact":"MODERATE","protein_end":558,"cdna_end":1811,"gene_id":"ENSG00000138376","cds_start":1673,"hgnc_id":"HGNC:952","variant_allele":"T","gene_symbol":"BARD1","cdna_start":1811,"strand":-1,"transcript_id":"ENST00000887324"},{"cds_end":1460,"codons":"tGc/tTc","protein_start":487,"impact":"MODERATE","biotype":"protein_coding","consequence_terms":["missense_variant"],"gene_symbol_source":"HGNC","amino_acids":"C/F","cdna_start":1549,"gene_symbol":"BARD1","variant_allele":"A","hgnc_id":"HGNC:952","strand":-1,"transcript_id":"ENST00000915563","protein_end":487,"cdna_end":1549,"cds_start":1460,"gene_id":"ENSG00000138376"},{"impact":"MODERATE","protein_start":487,"cds_end":1460,"codons":"tGc/tCc","gene_symbol_source":"HGNC","amino_acids":"C/S","biotype":"protein_coding","consequence_terms":["missense_variant"],"transcript_id":"ENST00000915563","strand":-1,"gene_symbol":"BARD1","cdna_start":1549,"hgnc_id":"HGNC:952","variant_allele":"G","cds_start":1460,"gene_id":"ENSG00000138376","cdna_end":1549,"protein_end":487},{"strand":-1,"transcript_id":"ENST00000915563","variant_allele":"T","hgnc_id":"HGNC:952","gene_symbol":"BARD1","cdna_start":1549,"gene_id":"ENSG00000138376","cds_start":1460,"protein_end":487,"cdna_end":1549,"protein_start":487,"impact":"MODERATE","codons":"tGc/tAc","cds_end":1460,"amino_acids":"C/Y","gene_symbol_source":"HGNC","consequence_terms":["missense_variant"],"biotype":"protein_coding"},{"strand":-1,"transcript_id":"ENST00000915564","cdna_start":957,"gene_symbol":"BARD1","hgnc_id":"HGNC:952","variant_allele":"A","cds_start":827,"gene_id":"ENSG00000138376","protein_end":276,"cdna_end":957,"protein_start":276,"impact":"MODERATE","cds_end":827,"codons":"tGc/tTc","gene_symbol_source":"HGNC","amino_acids":"C/F","biotype":"protein_coding","consequence_terms":["missense_variant"]},{"amino_acids":"C/S","gene_symbol_source":"HGNC","consequence_terms":["missense_variant"],"biotype":"protein_coding","protein_start":276,"impact":"MODERATE","codons":"tGc/tCc","cds_end":827,"gene_id":"ENSG00000138376","cds_start":827,"protein_end":276,"cdna_end":957,"strand":-1,"transcript_id":"ENST00000915564","variant_allele":"G","hgnc_id":"HGNC:952","gene_symbol":"BARD1","cdna_start":957},{"gene_symbol":"BARD1","cdna_start":957,"hgnc_id":"HGNC:952","variant_allele":"T","transcript_id":"ENST00000915564","strand":-1,"cdna_end":957,"protein_end":276,"cds_start":827,"gene_id":"ENSG00000138376","cds_end":827,"codons":"tGc/tAc","impact":"MODERATE","protein_start":276,"biotype":"protein_coding","consequence_terms":["missense_variant"],"gene_symbol_source":"HGNC","amino_acids":"C/Y"},{"gene_id":"ENSG00000138376","cds_start":1670,"protein_end":557,"cdna_end":1800,"strand":-1,"transcript_id":"ENST00000915565","hgnc_id":"HGNC:952","variant_allele":"A","gene_symbol":"BARD1","cdna_start":1800,"amino_acids":"C/F","gene_symbol_source":"HGNC","consequence_terms":["missense_variant"],"biotype":"protein_coding","protein_start":557,"impact":"MODERATE","codons":"tGc/tTc","cds_end":1670},{"cdna_start":1800,"gene_symbol":"BARD1","variant_allele":"G","hgnc_id":"HGNC:952","transcript_id":"ENST00000915565","strand":-1,"cdna_end":1800,"protein_end":557,"cds_start":1670,"gene_id":"ENSG00000138376","cds_end":1670,"codons":"tGc/tCc","impact":"MODERATE","protein_start":557,"biotype":"protein_coding","consequence_terms":["missense_variant"],"gene_symbol_source":"HGNC","amino_acids":"C/S"},{"cds_start":1670,"gene_id":"ENSG00000138376","protein_end":557,"cdna_end":1800,"strand":-1,"transcript_id":"ENST00000915565","cdna_start":1800,"gene_symbol":"BARD1","hgnc_id":"HGNC:952","variant_allele":"T","gene_symbol_source":"HGNC","amino_acids":"C/Y","biotype":"protein_coding","consequence_terms":["missense_variant"],"protein_start":557,"impact":"MODERATE","cds_end":1670,"codons":"tGc/tAc"},{"impact":"MODERATE","protein_start":590,"codons":"tGc/tTc","cds_end":1769,"amino_acids":"C/F","gene_symbol_source":"HGNC","consequence_terms":["missense_variant"],"biotype":"protein_coding","transcript_id":"ENST00000915566","strand":-1,"variant_allele":"A","hgnc_id":"HGNC:952","gene_symbol":"BARD1","cdna_start":1883,"gene_id":"ENSG00000138376","cds_start":1769,"cdna_end":1883,"protein_end":590},{"protein_end":590,"cdna_end":1883,"gene_id":"ENSG00000138376","cds_start":1769,"hgnc_id":"HGNC:952","variant_allele":"G","cdna_start":1883,"gene_symbol":"BARD1","strand":-1,"transcript_id":"ENST00000915566","consequence_terms":["missense_variant"],"biotype":"protein_coding","amino_acids":"C/S","gene_symbol_source":"HGNC","codons":"tGc/tCc","cds_end":1769,"protein_start":590,"impact":"MODERATE"},{"transcript_id":"ENST00000915566","strand":-1,"variant_allele":"T","hgnc_id":"HGNC:952","gene_symbol":"BARD1","cdna_start":1883,"gene_id":"ENSG00000138376","cds_start":1769,"cdna_end":1883,"protein_end":590,"impact":"MODERATE","protein_start":590,"codons":"tGc/tAc","cds_end":1769,"amino_acids":"C/Y","gene_symbol_source":"HGNC","consequence_terms":["missense_variant"],"biotype":"protein_coding"}],"id":"rs28997576","colocated_variants":[{"seq_region_name":"2","start":214752454,"allele_string":"HGMD_MUTATION","end":214752454,"strand":1,"phenotype_or_disease":1,"id":"CM021950"},{"id":"COSV104530488","phenotype_or_disease":1,"strand":1,"allele_string":"COSMIC_MUTATION","end":214752454,"var_synonyms":{"COSMIC":["COSM9494593"]},"somatic":1,"start":214752454,"seq_region_name":"2"},{"var_synonyms":{"ClinVar":["RCV004707849","RCV003608639","VCV002900407","RCV002225261","RCV001357928","RCV001080103","RCV000212134","RCV000123823","RCV000008511","VCV000008045"],"OMIM":[601593.0001],"UniProt":["VAR_010357"]},"start":214752454,"seq_region_name":"2","pubmed":[25741868,19435634,30781715,29458332,18974877,21393566,19412175,23056176,16061562,15342711,21799032,21809034,31658756,29292755,31371347,30975222,34579513],"end":214752454,"allele_string":"C/A/G/T","clin_sig":["uncertain_significance","benign","likely_benign","risk_factor"],"phenotype_or_disease":1,"strand":1,"clin_sig_allele":"G:benign/likely_benign;G:likely_benign;G:benign;A:uncertain_significance;G:risk_factor","frequencies":{"A":{"gnomade_afr":0,"gnomade_remaining":1.664e-05,"gnomade_eas":0,"gnomade":6.877e-07,"gnomade_amr":0,"gnomade_nfe":0,"gnomade_asj":0,"gnomade_sas":0,"gnomade_mid":0,"gnomade_fin":0},"G":{"gnomade_sas":0.0127,"sas":0.0082,"gnomade_amr":0.006019,"gnomade_eas":7.577e-05,"eas":0,"gnomadg_nfe":0.02306,"gnomadg_afr":0.003635,"gnomade_mid":0.02666,"gnomadg_sas":0.009747,"gnomadg_fin":0.008681,"gnomade_afr":0.003184,"gnomadg_amr":0.01059,"gnomadg_remaining":0.01185,"gnomade_nfe":0.02453,"gnomade_asj":0.02304,"gnomade":0.02128,"gnomadg_ami":0.02741,"gnomadg":0.01418,"amr":0.0086,"gnomade_fin":0.0102,"gnomadg_eas":0,"gnomadg_mid":0.02721,"afr":0.0008,"gnomade_remaining":0.01777,"gnomadg_asj":0.02307,"eur":0.0249,"af":0.008}},"id":"rs28997576"}],"seq_region_name":"2","strand":1,"start":214752454}]