TABLE 1.
(A) | |||||||
---|---|---|---|---|---|---|---|
Coding area | Non‐coding area | ||||||
ClinVar | None | ClinVar | None | ||||
P/LP | CADD ≧30 | LoF | P/LP | CADD ≧30 | Splicing | ||
WGS | 724 cancer‐related genes | 74 | 573 | 177 | 31 | 300 | 139 |
(B) | ||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Subgroup (cases) Targeted panel |
FC (131 cases) |
1MC (394 cases) |
nMC (966 cases) |
|||||||||||||||
Variant types | Coding area | Non‐coding area | Coding area | Non‐coding area | Coding area | Non‐coding area | ||||||||||||
ClinVar | None | ClinVar | None | ClinVar | None | ClinVar | None | ClinVar | None | ClinVar | None | |||||||
P/LP | CADD ≧30 | LoF | P/LP | CADD ≧30 | Splicing | P/LP | CADD ≧30 | LoF | P/LP | CADD ≧30 | Splicing | P/LP | CADD ≧30 | LoF | P/LP | CADD ≧30 | Splicing | |
724 cancer‐related genes | 9 | 67 | 17 | 2 | 30 | 9 | 19 | 154 | 46 | 9 | 81 | 41 | 46 | 352 | 114 | 20 | 189 | 89 |
Note: The important variants were selected based on Figure 1C approach.
Abbreviation: P/LP, pathogenic/likely pathogenic.