From: Omics-squared: human genomic, transcriptomic and phenotypic data for genetic analysis workshop 19
Sample | Variant type | 0.1 < MAFa ≤ 0.5 | 0.01 < MAF ≤ 0.1 | MAF ≤ 0.01 | |
---|---|---|---|---|---|
Unrelated exome sample | Coding | All coding | 5956 | 6878 | 13776 |
Synonymous | 3240 | 3329 | 6159 | ||
Non-synonymous | 2647 | 3450 | 7389 | ||
Highly Deleterious | 340 | 833 | 1979 | ||
Non-coding | 5′ UTRb | 165 | 170 | 361 | |
3′ UTR | 309 | 335 | 588 | ||
Family WGS sample | Coding | All coding | 15270 | 16412 | 23872 |
Synonymous | 8089 | 7743 | 10061 | ||
Non-synonymous | 6828 | 8275 | 13180 | ||
Highly Deleterious | 549 | 1159 | 1996 | ||
Non-coding | 5′ UTR | 3142 | 3057 | 4093 | |
3′ UTR | 16628 | 16688 | 21885 |