[{"start":56548501,"most_severe_consequence":"missense_variant","transcript_consequences":[{"variant_allele":"A","sift_prediction":"deleterious","codons":"aGc/aTc","gene_symbol":"BBS2","sift_score":0,"protein_end":70,"polyphen_score":0.24,"cdna_start":630,"amino_acids":"S/I","gene_symbol_source":"HGNC","cds_end":209,"strand":-1,"protein_start":70,"cdna_end":630,"hgnc_id":967,"gene_id":"ENSG00000125124","biotype":"protein_coding","impact":"MODERATE","polyphen_prediction":"benign","cds_start":209,"transcript_id":"ENST00000245157","consequence_terms":["missense_variant"]},{"cdna_end":630,"strand":-1,"protein_start":70,"cds_end":209,"hgnc_id":967,"impact":"MODERATE","polyphen_prediction":"benign","biotype":"protein_coding","gene_id":"ENSG00000125124","transcript_id":"ENST00000245157","cds_start":209,"consequence_terms":["missense_variant"],"variant_allele":"G","sift_prediction":"tolerated","codons":"aGc/aCc","gene_symbol":"BBS2","protein_end":70,"sift_score":0.1,"polyphen_score":0.009,"cdna_start":630,"amino_acids":"S/T","gene_symbol_source":"HGNC"},{"protein_start":70,"cdna_end":630,"strand":-1,"cds_end":209,"consequence_terms":["missense_variant"],"cds_start":209,"transcript_id":"ENST00000245157","polyphen_prediction":"benign","impact":"MODERATE","biotype":"protein_coding","gene_id":"ENSG00000125124","hgnc_id":967,"protein_end":70,"sift_score":1,"gene_symbol":"BBS2","codons":"aGc/aAc","sift_prediction":"tolerated","variant_allele":"T","gene_symbol_source":"HGNC","amino_acids":"S/N","cdna_start":630,"polyphen_score":0},{"strand":-1,"distance":3311,"gene_symbol":"BBS2","variant_allele":"A","gene_symbol_source":"HGNC","consequence_terms":["upstream_gene_variant"],"transcript_id":"ENST00000561951","impact":"MODIFIER","gene_id":"ENSG00000125124","biotype":"processed_transcript","hgnc_id":967},{"impact":"MODIFIER","biotype":"processed_transcript","gene_id":"ENSG00000125124","gene_symbol_source":"HGNC","consequence_terms":["upstream_gene_variant"],"transcript_id":"ENST00000561951","hgnc_id":967,"gene_symbol":"BBS2","strand":-1,"distance":3311,"variant_allele":"G"},{"distance":3311,"strand":-1,"gene_symbol":"BBS2","variant_allele":"T","transcript_id":"ENST00000561951","consequence_terms":["upstream_gene_variant"],"gene_symbol_source":"HGNC","gene_id":"ENSG00000125124","biotype":"processed_transcript","impact":"MODIFIER","hgnc_id":967},{"hgnc_id":967,"impact":"MODIFIER","gene_id":"ENSG00000125124","biotype":"nonsense_mediated_decay","gene_symbol_source":"HGNC","consequence_terms":["upstream_gene_variant"],"transcript_id":"ENST00000562012","variant_allele":"A","flags":["cds_start_NF"],"gene_symbol":"BBS2","strand":-1,"distance":4600},{"consequence_terms":["upstream_gene_variant"],"transcript_id":"ENST00000562012","gene_symbol_source":"HGNC","biotype":"nonsense_mediated_decay","gene_id":"ENSG00000125124","impact":"MODIFIER","hgnc_id":967,"distance":4600,"strand":-1,"gene_symbol":"BBS2","flags":["cds_start_NF"],"variant_allele":"G"},{"flags":["cds_start_NF"],"variant_allele":"T","distance":4600,"strand":-1,"gene_symbol":"BBS2","hgnc_id":967,"consequence_terms":["upstream_gene_variant"],"transcript_id":"ENST00000562012","gene_symbol_source":"HGNC","biotype":"nonsense_mediated_decay","gene_id":"ENSG00000125124","impact":"MODIFIER"},{"cdna_end":192,"strand":-1,"gene_symbol":"BBS2","variant_allele":"A","gene_symbol_source":"HGNC","consequence_terms":["non_coding_transcript_exon_variant"],"transcript_id":"ENST00000565378","impact":"MODIFIER","gene_id":"ENSG00000125124","biotype":"processed_transcript","cdna_start":192,"hgnc_id":967},{"cdna_start":192,"hgnc_id":967,"gene_symbol_source":"HGNC","consequence_terms":["non_coding_transcript_exon_variant"],"transcript_id":"ENST00000565378","impact":"MODIFIER","gene_id":"ENSG00000125124","biotype":"processed_transcript","variant_allele":"G","cdna_end":192,"strand":-1,"gene_symbol":"BBS2"},{"variant_allele":"T","gene_symbol":"BBS2","strand":-1,"cdna_end":192,"hgnc_id":967,"cdna_start":192,"biotype":"processed_transcript","gene_id":"ENSG00000125124","impact":"MODIFIER","consequence_terms":["non_coding_transcript_exon_variant"],"transcript_id":"ENST00000565378","gene_symbol_source":"HGNC"},{"gene_symbol":"BBS2","cdna_end":223,"strand":-1,"variant_allele":"A","gene_id":"ENSG00000125124","biotype":"retained_intron","impact":"MODIFIER","transcript_id":"ENST00000565781","consequence_terms":["non_coding_transcript_exon_variant"],"gene_symbol_source":"HGNC","hgnc_id":967,"cdna_start":223},{"cdna_start":223,"hgnc_id":967,"impact":"MODIFIER","gene_id":"ENSG00000125124","biotype":"retained_intron","gene_symbol_source":"HGNC","transcript_id":"ENST00000565781","consequence_terms":["non_coding_transcript_exon_variant"],"variant_allele":"G","gene_symbol":"BBS2","cdna_end":223,"strand":-1},{"gene_symbol":"BBS2","strand":-1,"cdna_end":223,"variant_allele":"T","impact":"MODIFIER","biotype":"retained_intron","gene_id":"ENSG00000125124","gene_symbol_source":"HGNC","transcript_id":"ENST00000565781","consequence_terms":["non_coding_transcript_exon_variant"],"cdna_start":223,"hgnc_id":967},{"transcript_id":"ENST00000565859","consequence_terms":["upstream_gene_variant"],"gene_symbol_source":"HGNC","biotype":"retained_intron","gene_id":"ENSG00000125124","impact":"MODIFIER","hgnc_id":967,"distance":4622,"strand":-1,"gene_symbol":"BBS2","variant_allele":"A"},{"distance":4622,"strand":-1,"gene_symbol":"BBS2","variant_allele":"G","consequence_terms":["upstream_gene_variant"],"transcript_id":"ENST00000565859","gene_symbol_source":"HGNC","gene_id":"ENSG00000125124","biotype":"retained_intron","impact":"MODIFIER","hgnc_id":967},{"variant_allele":"T","gene_symbol":"BBS2","strand":-1,"distance":4622,"hgnc_id":967,"impact":"MODIFIER","biotype":"retained_intron","gene_id":"ENSG00000125124","gene_symbol_source":"HGNC","consequence_terms":["upstream_gene_variant"],"transcript_id":"ENST00000565859"},{"impact":"MODIFIER","gene_id":"ENSG00000125124","biotype":"processed_transcript","gene_symbol_source":"HGNC","consequence_terms":["non_coding_transcript_exon_variant"],"transcript_id":"ENST00000566689","cdna_start":200,"hgnc_id":967,"gene_symbol":"BBS2","cdna_end":200,"strand":-1,"variant_allele":"A"},{"cdna_start":200,"hgnc_id":967,"impact":"MODIFIER","gene_id":"ENSG00000125124","biotype":"processed_transcript","gene_symbol_source":"HGNC","consequence_terms":["non_coding_transcript_exon_variant"],"transcript_id":"ENST00000566689","variant_allele":"G","gene_symbol":"BBS2","cdna_end":200,"strand":-1},{"variant_allele":"T","gene_symbol":"BBS2","strand":-1,"cdna_end":200,"hgnc_id":967,"cdna_start":200,"gene_id":"ENSG00000125124","biotype":"processed_transcript","impact":"MODIFIER","consequence_terms":["non_coding_transcript_exon_variant"],"transcript_id":"ENST00000566689","gene_symbol_source":"HGNC"},{"gene_symbol_source":"HGNC","amino_acids":"S/I","cdna_start":388,"polyphen_score":0.058,"protein_end":70,"sift_score":0,"gene_symbol":"BBS2","codons":"aGc/aTc","sift_prediction":"deleterious","variant_allele":"A","consequence_terms":["missense_variant"],"transcript_id":"ENST00000568104","cds_start":209,"impact":"MODERATE","polyphen_prediction":"benign","gene_id":"ENSG00000125124","biotype":"protein_coding","hgnc_id":967,"protein_start":70,"strand":-1,"cdna_end":388,"cds_end":209},{"strand":-1,"protein_start":70,"cdna_end":388,"cds_end":209,"hgnc_id":967,"cds_start":209,"consequence_terms":["missense_variant"],"transcript_id":"ENST00000568104","impact":"MODERATE","polyphen_prediction":"benign","biotype":"protein_coding","gene_id":"ENSG00000125124","sift_prediction":"tolerated","variant_allele":"G","protein_end":70,"sift_score":0.09,"gene_symbol":"BBS2","codons":"aGc/aCc","cdna_start":388,"polyphen_score":0.003,"gene_symbol_source":"HGNC","amino_acids":"S/T"},{"polyphen_prediction":"benign","impact":"MODERATE","biotype":"protein_coding","gene_id":"ENSG00000125124","consequence_terms":["missense_variant"],"transcript_id":"ENST00000568104","cds_start":209,"hgnc_id":967,"cdna_end":388,"protein_start":70,"strand":-1,"cds_end":209,"amino_acids":"S/N","gene_symbol_source":"HGNC","polyphen_score":0,"cdna_start":388,"gene_symbol":"BBS2","codons":"aGc/aAc","protein_end":70,"sift_score":1,"variant_allele":"T","sift_prediction":"tolerated"},{"hgnc_id":967,"cdna_start":343,"transcript_id":"ENST00000569342","consequence_terms":["non_coding_transcript_exon_variant"],"gene_symbol_source":"HGNC","biotype":"retained_intron","gene_id":"ENSG00000125124","impact":"MODIFIER","variant_allele":"A","cdna_end":343,"strand":-1,"gene_symbol":"BBS2"},{"biotype":"retained_intron","gene_id":"ENSG00000125124","impact":"MODIFIER","consequence_terms":["non_coding_transcript_exon_variant"],"transcript_id":"ENST00000569342","gene_symbol_source":"HGNC","hgnc_id":967,"cdna_start":343,"gene_symbol":"BBS2","strand":-1,"cdna_end":343,"variant_allele":"G"},{"hgnc_id":967,"cdna_start":343,"consequence_terms":["non_coding_transcript_exon_variant"],"transcript_id":"ENST00000569342","gene_symbol_source":"HGNC","biotype":"retained_intron","gene_id":"ENSG00000125124","impact":"MODIFIER","variant_allele":"T","strand":-1,"cdna_end":343,"gene_symbol":"BBS2"},{"strand":-1,"cdna_end":161,"gene_symbol":"BBS2","flags":["cds_end_NF"],"variant_allele":"A","consequence_terms":["5_prime_UTR_variant"],"transcript_id":"ENST00000569941","gene_symbol_source":"HGNC","gene_id":"ENSG00000125124","biotype":"protein_coding","impact":"MODIFIER","hgnc_id":967,"cdna_start":161},{"consequence_terms":["5_prime_UTR_variant"],"transcript_id":"ENST00000569941","gene_symbol_source":"HGNC","biotype":"protein_coding","gene_id":"ENSG00000125124","impact":"MODIFIER","hgnc_id":967,"cdna_start":161,"cdna_end":161,"strand":-1,"gene_symbol":"BBS2","flags":["cds_end_NF"],"variant_allele":"G"},{"strand":-1,"cdna_end":161,"gene_symbol":"BBS2","flags":["cds_end_NF"],"variant_allele":"T","consequence_terms":["5_prime_UTR_variant"],"transcript_id":"ENST00000569941","gene_symbol_source":"HGNC","gene_id":"ENSG00000125124","biotype":"protein_coding","impact":"MODIFIER","hgnc_id":967,"cdna_start":161}],"colocated_variants":[{"allele_string":"HGMD_MUTATION","end":56548501,"strand":1,"seq_region_name":"16","start":56548501,"id":"CM012900","phenotype_or_disease":1},{"start":56548501,"frequencies":{"T":{"gnomade_sas":0.9897,"gnomadg_amr":0.9929,"eur":0.9911,"sas":0.9939,"gnomade_eas":1,"gnomadg_remaining":0.9953,"gnomade_remaining":0.994,"gnomadg_eas":1,"gnomade_afr":0.9991,"gnomadg_ami":1,"gnomade_fin":0.9993,"gnomade_mid":0.9861,"gnomade_asj":0.9948,"af":0.9964,"gnomadg_mid":0.9864,"gnomadg":0.9952,"gnomade_nfe":0.9927,"gnomadg_asj":0.9951,"eas":1,"amr":0.9986,"gnomade_amr":0.9962,"afr":0.9985,"gnomadg_nfe":0.993,"gnomadg_fin":0.9996,"gnomade":0.9932,"gnomadg_afr":0.9984,"gnomadg_sas":0.9909}},"phenotype_or_disease":1,"id":"rs4784677","clin_sig_allele":"T:benign","allele_string":"C/A/G/T","clin_sig":["benign","pathogenic"],"var_synonyms":{"ClinVar":["RCV000004838","VCV000004576","RCV000860491","RCV000710724","RCV000301991","VCV000285261","RCV001081362","RCV000989606","RCV001553955"],"UniProt":["VAR_013162"],"OMIM":[606151.0013]},"end":56548501,"strand":1,"pubmed":[29334895,18974877,25007332,11567139,23559858,26147798,31850058,25780760,36672825,29681516,33374679],"seq_region_name":"16"}],"id":"rs4784677","input":"rs4784677","allele_string":"C/A/G/T","strand":1,"seq_region_name":"16","end":56548501,"assembly_name":"GRCh37"}]