Classification according to Sequence Ontology terms of blood group gene transcript variants found in the 1000 Genomes project
| Sequence Ontology term . | n . |
|---|---|
| exon_variant | 3 819 |
| coding_sequence_variant | 1 904 |
| missense_variant | 1 201 |
| synonymous_variant | 663 |
| frameshift_variant | 7 |
| inframe_insertion | 1 |
| inframe_deletion | 2 |
| stop_gained | 29 |
| stop_lost | 1 |
| 5_prime_UTR_variant | 348 |
| 3_prime_UTR_variant | 1 567 |
| intron_variant | 31 040 |
| coding_transcript_intron_variant | 31 032 |
| splice_acceptor_variant | 6 |
| splice_donor_variant | 2 |
| complex_transcript_variant* | 2 |
| Sequence Ontology term . | n . |
|---|---|
| exon_variant | 3 819 |
| coding_sequence_variant | 1 904 |
| missense_variant | 1 201 |
| synonymous_variant | 663 |
| frameshift_variant | 7 |
| inframe_insertion | 1 |
| inframe_deletion | 2 |
| stop_gained | 29 |
| stop_lost | 1 |
| 5_prime_UTR_variant | 348 |
| 3_prime_UTR_variant | 1 567 |
| intron_variant | 31 040 |
| coding_transcript_intron_variant | 31 032 |
| splice_acceptor_variant | 6 |
| splice_donor_variant | 2 |
| complex_transcript_variant* | 2 |
These variants were excluded from further analysis and matching.