Table 1.
Structural classification of ADME panel variants (n = 15,727).
| Coding (n = 6,058; 38.5%) |
Non-coding (n = 9,669; 61.5%) |
||||
|---|---|---|---|---|---|
| Classa | Variant (knownb) |
Variant (novelb) |
Classa | Variant (knownb) |
Variant (novelb) |
| Initiator_cod | 3 | 4 | Upstream | 476 | 359 |
| Missense | 1,610 | 2,283 | 5′UTR | 501 | 499 |
| Stop_gained | 22 | 22 | Non-coding exon | 95 | 34 |
| Stop_lost | 2 | Intron | 1,166 | 1,441 | |
| Synonymous | 1,219 | 764 | Splice | 296 | 520 |
| Inframe | 29 | 28 | 3′UTR | 2,922 | 1,261 |
| Frameshift | 19 | 18 | Downstream | 68 | 31 |
| Other codingc | 26 | 9 | |||
| Total | 2,930 (48%) | 3138 (52%) | Total | 5,524 (57%) | 4,145 (43%) |
aClassification nomenclature according to ENSEMBLE variation sequence ontology terms. bKnown/novel: with/without dbSNP database identifier. cIncluding: coding-exon-variant, stop-retained.