Table 2.
Composition of the variant reference datasets used in this study. This table separates mutation catalogues into those derived from clinical databases (disease mutation catalogues) and those derived directly from functional assays (functional mutation catalogues). The table provides summary information for the numbers of proteins and variants of different classifications that have contributed to each dataset. See Additional file 1: Figure S1 and Table S1 for more detailed information
| Total variants | Deleterious | Benign | Total proteins | |
|---|---|---|---|---|
| Disease mutation catalogues | ||||
| ClinvarHC | 29,752 | 19,461 | 10,291 | 2979 |
| Humsavar | 43,878 | 19,329 | 24,549 | 10,231 |
| Swissvar | 12,729 | 4526 | 8203 | 5036 |
| Varibench | 10,266 | 4309 | 5957 | 4203 |
| Functional mutation catalogues | ||||
| TP53-TA | 1886 | 582 | 1304 | 1 |
| BRCA1-DMS | 1683 | 408 | 1275 | 1 |
| UniFun | 11,519 | 9503 | 2016 | 2209 |