Table 1 Number of coding variants discovered in exome sequencing data from 454,787 participants in the UK Biobank
From: Exome sequencing and analysis of 454,787 UK Biobank participants
Variant category | No. of variants (% with MAC = 1) | Median number of variants per participant (IQR) |
|---|---|---|
Coding regionsa | 12,326,144 (46.86) | 19,895 (247) |
Predicted function | ||
In-frame indels | 75,096 (40.33) | 115 (11) |
Synonymous | 3,457,173 (43.12) | 10,273 (141) |
Missense | 7,878,586 (47.28) | 9,292 (143) |
Likely benign | 1,532,129 (44.11) | 6,561 (104) |
Possibly deleterious | 4,556,629 (47.23) | 2,610 (70) |
Likely deleterious | 1,789,828 (50.1) | 121 (16) |
pLOF (any transcript) | 915,289 (57.88) | 214 (16) |
Start lost | 26,453 (47.94) | 13 (4) |
Stop gained | 279,913 (54.02) | 52 (8) |
Stop lost | 12,843 (56.51) | 6 (3) |
Splice donor | 104,328 (58.67) | 17 (5) |
Frameshift | 405,669 (60.41) | 90 (10) |
Splice acceptor | 86,083 (60.79) | 20 (5) |
