{"most_severe_consequence": "missense_variant", "allele_string": "A/C", "strand": 1, "colocated_variants": [{"frequencies": {"C": {"gnomad_eas": 0, "ea": 0.0001165, "gnomad_asj": 0, "gnomad_oth": 0, "gnomad_sas": 0, "gnomad_afr": 0, "gnomad_nfe": 2.646e-05, "gnomad_amr": 0, "gnomad": 1.199e-05, "aa": 0, "gnomad_fin": 0}}, "pubmed": [25741868, 18414213], "phenotype_or_disease": 1, "strand": 1, "clin_sig": ["uncertain_significance", "likely_benign"], "start": 32906759, "end": 32906759, "id": "rs371454630", "clin_sig_allele": "C:likely_benign;C:uncertain_significance;C:conflicting_interpretations_of_pathogenicity", "allele_string": "A/C"}, {"somatic": 1, "strand": 1, "allele_string": "COSMIC_MUTATION", "id": "COSV66464770", "end": 32906759, "start": 32906759, "phenotype_or_disease": 1}], "start": 32906759, "seq_region_name": "13", "id": "13:g.32906759A>C", "transcript_consequences": [{"polyphen_prediction": "benign", "cadd_phred": 12.39, "cdna_start": 1377, "polyphen_score": 0.406, "gerp++_rs": -4.13, "protein_start": 382, "consequence_terms": ["missense_variant"], "gene_symbol": "BRCA2", "variant_allele": "C", "cadd_raw": 0.870762, "gene_symbol_source": "HGNC", "protein_end": 382, "sift_score": 0.13, "biotype": "protein_coding", "sift_prediction": "tolerated", "transcript_id": "ENST00000380152", "gene_id": "ENSG00000139618", "amino_acids": "K/Q", "phylop100way_vertebrate": 0.336, "cds_start": 1144, "codons": "Aaa/Caa", "cdna_end": 1377, "impact": "MODERATE", "cds_end": 1144, "strand": 1, "hgnc_id": 1101}, {"transcript_id": "ENST00000530893", "sift_prediction": "tolerated", "gene_id": "ENSG00000139618", "sift_score": 0.19, "biotype": "protein_coding", "amino_acids": "K/Q", "variant_allele": "C", "gene_symbol_source": "HGNC", "protein_end": 259, "cadd_raw": 0.870762, "strand": 1, "impact": "MODERATE", "cds_end": 775, "hgnc_id": 1101, "codons": "Aaa/Caa", "phylop100way_vertebrate": 0.336, "cds_start": 775, "flags": ["cds_end_NF"], "cdna_end": 1342, "cadd_phred": 12.39, "polyphen_prediction": "benign", "polyphen_score": 0.122, "cdna_start": 1342, "protein_start": 259, "gene_symbol": "BRCA2", "consequence_terms": ["missense_variant"], "gerp++_rs": -4.13}, {"polyphen_prediction": "benign", "cadd_phred": 12.39, "polyphen_score": 0.406, "cdna_start": 1371, "protein_start": 382, "gene_symbol": "BRCA2", "consequence_terms": ["missense_variant"], "gerp++_rs": -4.13, "transcript_id": "ENST00000544455", "sift_prediction": "tolerated", "gene_id": "ENSG00000139618", "biotype": "protein_coding", "sift_score": 0.13, "canonical": 1, "amino_acids": "K/Q", "variant_allele": "C", "gene_symbol_source": "HGNC", "protein_end": 382, "cadd_raw": 0.870762, "strand": 1, "cds_end": 1144, "impact": "MODERATE", "hgnc_id": 1101, "codons": "Aaa/Caa", "cds_start": 1144, "phylop100way_vertebrate": 0.336, "cdna_end": 1371}], "end": 32906759, "assembly_name": "GRCh37", "input": "13:g.32906759A>C"}