[{"strand":1,"input":"rs6687605","assembly_name":"GRCh37","colocated_variants":[{"strand":1,"allele_string":"HGMD_MUTATION","phenotype_or_disease":1,"id":"CM168212","start":25889632,"end":25889632,"seq_region_name":"1"},{"somatic":1,"seq_region_name":"1","allele_string":"COSMIC_MUTATION","strand":1,"start":25889632,"end":25889632,"phenotype_or_disease":1,"var_synonyms":{"COSMIC":["COSM1341262"]},"id":"COSV65473126"},{"end":25889632,"start":25889632,"id":"COSV65473260","var_synonyms":{"COSMIC":["COSM4440827"]},"phenotype_or_disease":1,"allele_string":"COSMIC_MUTATION","strand":1,"seq_region_name":"1","somatic":1},{"frequencies":{"G":{"gnomade_eas":0,"gnomade_afr":0,"gnomade_mid":0,"gnomade_sas":6.96e-05,"gnomade":7.533e-06,"gnomade_asj":0,"gnomade_remaining":0,"gnomade_amr":0,"gnomade_fin":0,"gnomade_nfe":4.502e-06},"A":{"gnomade_remaining":1.657e-05,"gnomade_amr":2.236e-05,"gnomade_fin":0,"gnomade_nfe":6.303e-06,"gnomade_eas":5.041e-05,"gnomade_afr":0,"gnomade_mid":0,"gnomade":9.587e-06,"gnomade_sas":3.48e-05,"gnomade_asj":0},"C":{"gnomadg_sas":0.4459,"eas":0.4425,"af":0.4349,"gnomade_asj":0.5873,"gnomadg_fin":0.5,"gnomade":0.5222,"sas":0.4366,"afr":0.3207,"gnomade_afr":0.3547,"gnomade_eas":0.4998,"gnomade_nfe":0.5339,"gnomadg_remaining":0.5232,"gnomade_amr":0.5468,"gnomade_remaining":0.5121,"gnomadg_nfe":0.5379,"gnomade_sas":0.4348,"amr":0.5101,"gnomade_mid":0.5662,"gnomadg_amr":0.5207,"gnomadg_afr":0.3542,"gnomadg":0.479,"gnomadg_eas":0.475,"gnomadg_ami":0.4901,"gnomadg_mid":0.5616,"eur":0.5239,"gnomade_fin":0.4961,"gnomadg_asj":0.5858}},"seq_region_name":"1","clin_sig_allele":"C:benign","pubmed":[31227787,24906453,31397093,26129832,24067191],"id":"rs6687605","phenotype_or_disease":1,"var_synonyms":{"UniProt":["VAR_028403"],"ClinVar":["RCV000427792","RCV000386734","VCV000296982","RCV001277157","RCV002356407"]},"end":25889632,"clin_sig":["benign"],"start":25889632,"strand":1,"allele_string":"T/A/C/G"}],"id":"rs6687605","seq_region_name":"1","allele_string":"T/A/C/G","start":25889632,"most_severe_consequence":"missense_variant","transcript_consequences":[{"codons":"Tcc/Acc","variant_allele":"A","cds_end":604,"cdna_start":723,"cds_start":604,"hgnc_id":18640,"biotype":"protein_coding","polyphen_score":0.298,"protein_start":202,"amino_acids":"S/T","gene_symbol":"LDLRAP1","cdna_end":723,"impact":"MODERATE","sift_prediction":"tolerated","consequence_terms":["missense_variant"],"gene_id":"ENSG00000157978","polyphen_prediction":"benign","transcript_id":"ENST00000374338","sift_score":0.28,"protein_end":202,"strand":1,"gene_symbol_source":"HGNC"},{"codons":"Tcc/Ccc","cds_end":604,"variant_allele":"C","hgnc_id":18640,"cds_start":604,"biotype":"protein_coding","cdna_start":723,"protein_start":202,"polyphen_score":0.035,"gene_symbol":"LDLRAP1","amino_acids":"S/P","cdna_end":723,"polyphen_prediction":"benign","transcript_id":"ENST00000374338","sift_prediction":"tolerated","impact":"MODERATE","gene_id":"ENSG00000157978","consequence_terms":["missense_variant"],"gene_symbol_source":"HGNC","sift_score":0.2,"protein_end":202,"strand":1},{"strand":1,"protein_end":202,"sift_score":0.26,"gene_symbol_source":"HGNC","consequence_terms":["missense_variant"],"gene_id":"ENSG00000157978","sift_prediction":"tolerated","impact":"MODERATE","transcript_id":"ENST00000374338","polyphen_prediction":"benign","cdna_end":723,"amino_acids":"S/A","gene_symbol":"LDLRAP1","polyphen_score":0.015,"protein_start":202,"cdna_start":723,"biotype":"protein_coding","cds_start":604,"hgnc_id":18640,"variant_allele":"G","cds_end":604,"codons":"Tcc/Gcc"},{"hgnc_id":18640,"biotype":"processed_transcript","transcript_id":"ENST00000470950","impact":"MODIFIER","distance":1450,"gene_id":"ENSG00000157978","consequence_terms":["upstream_gene_variant"],"gene_symbol_source":"HGNC","strand":1,"gene_symbol":"LDLRAP1","variant_allele":"A"},{"gene_symbol":"LDLRAP1","variant_allele":"C","transcript_id":"ENST00000470950","biotype":"processed_transcript","hgnc_id":18640,"consequence_terms":["upstream_gene_variant"],"gene_id":"ENSG00000157978","distance":1450,"impact":"MODIFIER","gene_symbol_source":"HGNC","strand":1},{"impact":"MODIFIER","gene_id":"ENSG00000157978","consequence_terms":["upstream_gene_variant"],"distance":1450,"hgnc_id":18640,"transcript_id":"ENST00000470950","biotype":"processed_transcript","strand":1,"gene_symbol_source":"HGNC","gene_symbol":"LDLRAP1","variant_allele":"G"},{"gene_symbol":"LDLRAP1","variant_allele":"A","hgnc_id":18640,"biotype":"processed_transcript","transcript_id":"ENST00000474283","impact":"MODIFIER","gene_id":"ENSG00000157978","distance":493,"consequence_terms":["upstream_gene_variant"],"gene_symbol_source":"HGNC","strand":1},{"variant_allele":"C","gene_symbol":"LDLRAP1","gene_symbol_source":"HGNC","strand":1,"biotype":"processed_transcript","transcript_id":"ENST00000474283","hgnc_id":18640,"distance":493,"gene_id":"ENSG00000157978","consequence_terms":["upstream_gene_variant"],"impact":"MODIFIER"},{"variant_allele":"G","gene_symbol":"LDLRAP1","gene_symbol_source":"HGNC","strand":1,"hgnc_id":18640,"transcript_id":"ENST00000474283","biotype":"processed_transcript","impact":"MODIFIER","gene_id":"ENSG00000157978","consequence_terms":["upstream_gene_variant"],"distance":493},{"strand":1,"gene_symbol_source":"HGNC","cdna_start":326,"gene_id":"ENSG00000157978","consequence_terms":["non_coding_transcript_exon_variant"],"impact":"MODIFIER","biotype":"processed_transcript","transcript_id":"ENST00000484476","hgnc_id":18640,"variant_allele":"A","cdna_end":326,"gene_symbol":"LDLRAP1"},{"biotype":"processed_transcript","transcript_id":"ENST00000484476","hgnc_id":18640,"cdna_start":326,"gene_id":"ENSG00000157978","consequence_terms":["non_coding_transcript_exon_variant"],"impact":"MODIFIER","gene_symbol_source":"HGNC","strand":1,"gene_symbol":"LDLRAP1","cdna_end":326,"variant_allele":"C"},{"gene_symbol":"LDLRAP1","cdna_end":326,"variant_allele":"G","cdna_start":326,"consequence_terms":["non_coding_transcript_exon_variant"],"gene_id":"ENSG00000157978","impact":"MODIFIER","biotype":"processed_transcript","transcript_id":"ENST00000484476","hgnc_id":18640,"strand":1,"gene_symbol_source":"HGNC"},{"gene_id":"ENSG00000157978","consequence_terms":["non_coding_transcript_exon_variant"],"cdna_start":1074,"impact":"MODIFIER","biotype":"processed_transcript","transcript_id":"ENST00000488127","hgnc_id":18640,"strand":1,"gene_symbol_source":"HGNC","gene_symbol":"LDLRAP1","variant_allele":"A","cdna_end":1074},{"biotype":"processed_transcript","transcript_id":"ENST00000488127","hgnc_id":18640,"cdna_start":1074,"gene_id":"ENSG00000157978","consequence_terms":["non_coding_transcript_exon_variant"],"impact":"MODIFIER","gene_symbol_source":"HGNC","strand":1,"gene_symbol":"LDLRAP1","variant_allele":"C","cdna_end":1074},{"gene_symbol":"LDLRAP1","cdna_end":1074,"variant_allele":"G","consequence_terms":["non_coding_transcript_exon_variant"],"gene_id":"ENSG00000157978","cdna_start":1074,"impact":"MODIFIER","biotype":"processed_transcript","transcript_id":"ENST00000488127","hgnc_id":18640,"strand":1,"gene_symbol_source":"HGNC"}],"regulatory_feature_consequences":[{"regulatory_feature_id":"ENSR1_582C8T","variant_allele":"A","biotype":"CTCF_binding_site","impact":"MODIFIER","consequence_terms":["regulatory_region_variant"]},{"regulatory_feature_id":"ENSR1_582C8T","variant_allele":"C","biotype":"CTCF_binding_site","impact":"MODIFIER","consequence_terms":["regulatory_region_variant"]},{"regulatory_feature_id":"ENSR1_582C8T","variant_allele":"G","biotype":"CTCF_binding_site","consequence_terms":["regulatory_region_variant"],"impact":"MODIFIER"}],"end":25889632}]