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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

From: Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics

  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