From: SVAT: Secure outsourcing of variant annotation and genotype aggregation
Term | CDS | Splice Region | Splice Acceptor | Splice Donor | 5’ UTR | 3’ UTR | Start Codon | Stop Codon | Intron |
---|---|---|---|---|---|---|---|---|---|
intron_variant | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
3_prime_UTR_variant | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 |
5_prime_UTR_variant | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 |
coding_sequence_variant | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
synonymous_variant | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
stop_retained_variant | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 |
start_retained_variant | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 |
incomplete_terminal_codon_variant | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
splice_region_variant | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
protein_altering_variant | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
missense_variant | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
inframe_deletion | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
inframe_insertion | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
transcript_amplification | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
start_lost | 1 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 |
stop_lost | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 |
frameshift_variant | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
stop_gained | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 |
splice_donor_variant | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
splice_acceptor_variant | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |