Table 1.
Genetic variants found in R4 cells
Gene | Variant | Variant location | Consequence/type | Total read depth | Variant freq | SIFT/PolyPhen | COSMIC ID/dbSNP |
---|---|---|---|---|---|---|---|
SETD2 | chr3:47162614G > T p.T1171K c.3512C > A |
exon 3 | Missense substitution | 266 | 22% | deleterious(0) probably_damaging (0.98) |
— |
EGFR | chr7:55211142A > G p.K129E c.385A > G |
exon 3 | Missense substitution | 314 | 16% | tolerated(1) benign(0.005) |
COSM 5041204 |
FANCC | chr9:97864140C > A c.1534 + 8G > T |
exon 15 | Splice region | 126 | 10% | — | — |