Table 1.
Gene | Genomic coordinates (hg19) | HGVS cDNA | HGVS protein | Variant type | COSMIC ID | Variant allele fraction |
---|---|---|---|---|---|---|
FGFR1 | Chr 8: 38274849 | NM_023110: c.1638C>A | p.N546K | Missense | COSM19176 | 0.29 |
PIK3CA | Chr 3: 178952085 | NM_006218: c.3140A>G | p.H1047R | Missense | COSM775 | 0.33 |
PPP1R1A | Chr 12: 54975791 | NM_006741: c.372_373 delinsCA | p.E124_S125 delinsDT | Dinucleotide substitution | N/A | 0.38 |
RNF216 | Chr 7: 5662795 | NM_207116: c.2297G>A | p.R766H | Missense | N/A | 0.21 |
HGVS, Human Genome Variation Society; COSMIC, Catalogue of Somatic Mutations in Cancer; N/A, not applicable.