[{"label":"TFBS ablation","SO_accession":"SO:0001895","description":"A feature ablation whereby the deleted region includes a transcription factor binding site","SO_term":"TFBS_ablation"},{"label":"transcript amplification","SO_term":"transcript_amplification","description":"A feature amplification of a region containing a transcript","SO_accession":"SO:0001889"},{"SO_accession":"SO:0001907","description":"A sequence variant that causes the extension of a genomic feature, with regard to the reference sequence","SO_term":"feature_elongation","label":"feature elongation"},{"SO_accession":"SO:0001574","SO_term":"splice_acceptor_variant","description":"A splice variant that changes the 2 base region at the 3' end of an intron","label":"splice acceptor variant"},{"SO_accession":"SO:0001589","SO_term":"frameshift_variant","description":"A sequence variant which causes a disruption of the translational reading frame, because the number of nucleotides inserted or deleted is not a multiple of three","label":"frameshift variant"},{"label":"synonymous variant","description":"A sequence variant where there is no resulting change to the encoded amino acid","SO_term":"synonymous_variant","SO_accession":"SO:0001819"},{"label":"sequence variant","description":"A sequence_variant is a non exact copy of a sequence_feature or genome exhibiting one or more sequence_alteration","SO_term":"sequence_variant","SO_accession":"SO:0001060"},{"SO_accession":"SO:0001578","description":"A sequence variant where at least one base of the terminator codon (stop) is changed, resulting in an elongated transcript","SO_term":"stop_lost","label":"stop lost"},{"description":"A sequence variant that falls in the polypyrimidine tract at 3' end of intron between 17 and 3 bases from the end (acceptor -3 to acceptor -17)","SO_term":"splice_polypyrimidine_tract_variant","SO_accession":"SO:0002169","label":"splice polypyrimidine tract variant"},{"label":"upstream gene variant","SO_accession":"SO:0001631","description":"A sequence variant located 5' of a gene","SO_term":"upstream_gene_variant"},{"description":"A transcript variant of a protein coding gene","SO_term":"coding_transcript_variant","SO_accession":"SO:0001968","label":"coding transcript variant"},{"SO_accession":"SO:0001621","SO_term":"NMD_transcript_variant","description":"A variant in a transcript that is the target of NMD","label":"NMD transcript variant"},{"SO_accession":"SO:0001891","description":"A feature amplification of a region containing a regulatory region","SO_term":"regulatory_region_amplification","label":"regulatory region amplification"},{"label":"TF binding site","SO_accession":"SO:0001782","description":"A sequence variant located within a transcription factor binding site","SO_term":"TF_binding_site_variant"},{"label":"missense variant","SO_term":"missense_variant","description":"A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preserved","SO_accession":"SO:0001583"},{"label":"intron variant","SO_accession":"SO:0001627","SO_term":"intron_variant","description":"A transcript variant occurring within an intron"},{"SO_term":"regulatory_region_ablation","description":"A feature ablation whereby the deleted region includes a regulatory region","SO_accession":"SO:0001894","label":"regulatory region ablation"},{"SO_accession":"SO:0001892","description":"A feature amplification of a region containing a transcription factor binding site","SO_term":"TFBS_amplification","label":"TFBS amplification"},{"SO_accession":"SO:0002019","SO_term":"start_retained_variant","description":"A sequence variant where at least one base in the start codon is changed, but the start remains","label":"start retained variant"},{"SO_accession":"SO:0001632","description":"A sequence variant located 3' of a gene","SO_term":"downstream_gene_variant","label":"downstream gene variant"},{"SO_accession":"SO:0001619","description":"A transcript variant of a non coding RNA gene","SO_term":"non_coding_transcript_variant","label":"non coding transcript variant"},{"SO_accession":"SO:0001623","SO_term":"5_prime_UTR_variant","description":"A UTR variant of the 5' UTR","label":"5 prime UTR variant"},{"label":"splice donor variant","SO_term":"splice_donor_variant","description":"A splice variant that changes the 2 base region at the 5' end of an intron","SO_accession":"SO:0001575"},{"SO_accession":"SO:0001818","SO_term":"protein_altering_variant","description":"A sequence_variant which is predicted to change the protein encoded in the coding sequence","label":"protein altering variant"},{"SO_accession":"SO:0001822","description":"An inframe non synonymous variant that deletes bases from the coding sequence","SO_term":"inframe_deletion","label":"inframe deletion"},{"label":"non coding transcript exon variant","description":"A sequence variant that changes non-coding exon sequence in a non-coding transcript","SO_term":"non_coding_transcript_exon_variant","SO_accession":"SO:0001792"},{"SO_term":"incomplete_terminal_codon_variant","description":"A sequence variant where at least one base of the final codon of an incompletely annotated transcript is changed","SO_accession":"SO:0001626","label":"incomplete terminal codon variant"},{"label":"regulatory region variant","SO_accession":"SO:0001566","SO_term":"regulatory_region_variant","description":"A sequence variant located within a regulatory region"},{"label":"start lost","SO_term":"start_lost","description":"A codon variant that changes at least one base of the canonical start codon","SO_accession":"SO:0002012"},{"label":"transcript ablation","SO_term":"transcript_ablation","description":"A feature ablation whereby the deleted region includes a transcript feature","SO_accession":"SO:0001893"},{"label":"coding sequence variant","description":"A sequence variant that changes the coding sequence","SO_term":"coding_sequence_variant","SO_accession":"SO:0001580"},{"description":"A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron","SO_term":"splice_region_variant","SO_accession":"SO:0001630","label":"splice region variant"},{"SO_term":"feature_truncation","description":"A sequence variant that causes the reduction of a genomic feature, with regard to the reference sequence","SO_accession":"SO:0001906","label":"feature truncation"},{"label":"3 prime UTR variant","SO_accession":"SO:0001624","description":"A UTR variant of the 3' UTR","SO_term":"3_prime_UTR_variant"},{"description":"A transcript variant located with the sequence of the mature miRNA","SO_term":"mature_miRNA_variant","SO_accession":"SO:0001620","label":"mature miRNA variant"},{"SO_accession":"SO:0001628","description":"A sequence variant located in the intergenic region, between genes","SO_term":"intergenic_variant","label":"intergenic variant"},{"label":"stop gained","SO_accession":"SO:0001587","description":"A sequence variant whereby at least one base of a codon is changed, resulting in a premature stop codon, leading to a shortened transcript","SO_term":"stop_gained"},{"SO_accession":"SO:0002170","description":"A sequence variant that falls in the region between the 3rd and 6th base after splice junction (5' end of intron).","SO_term":"splice_donor_region_variant","label":"splice donor region variant"},{"label":"splice donor 5th base variant","SO_accession":"SO:0001787","SO_term":"splice_donor_5th_base_variant","description":"A sequence variant that causes a change at the 5th base pair after the start of the intron in the orientation of the transcript"},{"description":"An inframe non synonymous variant that inserts bases into in the coding sequence","SO_term":"inframe_insertion","SO_accession":"SO:0001821","label":"inframe insertion"},{"label":"stop retained variant","SO_accession":"SO:0001567","SO_term":"stop_retained_variant","description":"A sequence variant where at least one base in the terminator codon is changed, but the terminator remains"}]