Table 3. Validated of distinct and known variants in mismatch repair, tumor suppressors and oncogenes.
| Loci | Ref | Var | Gene | Variant type | Novel | Frequency of Mutation | |
|---|---|---|---|---|---|---|---|
| Mismatch Repair | |||||||
| 80149981 | A | G | MSH3 | nonsynonymous SNV | 0 | 0.60 | |
| 80168937 | G | A | MSH3 | nonsynonymous SNV | 0 | 0.51 | |
| 79950724 | G | C | MSH3 | nonsynonymous SNV | 0 | 0.02 | |
| 48023115 | T | C | MSH6 | synonymous SNV | 0 | 0.14 | |
| 48030588 | C | T | MSH6 | stopgain | 0 | 0.06 | |
| Tumor Suppressor | |||||||
| 63410110 | T | C | AMER1 | synonymous SNV | 0 | 0.08 | |
| 63412690 | A | C | AMER1 | nonsynonymous SNV | 0 | 0.06 | |
| 63411276 | G | A | AMER1 | stopgain | 0 | 0.06 | |
| 63411684 | G | T | AMER1 | nonsynonymous SNV | 1 | 0.06 | |
| 112162854 | T | C | APC | synonymous SNV | 0 | 0.52 | |
| 112164561 | G | A | APC | synonymous SNV | 0 | 0.49 | |
| 112176325 | G | A | APC | synonymous SNV | 0 | 0.49 | |
| 112176559 | T | G | APC | synonymous SNV | 0 | 0.54 | |
| 112177171 | G | A | APC | synonymous SNV | 0 | 0.59 | |
| 112176756 | T | A | APC | nonsynonymous SNV | 0 | 0.57 | |
| 112175770 | G | A | APC | synonymous SNV | 0 | 0.49 | |
| 112164586 | C | T | APC | stopgain | 0 | 0.06 | |
| 7579472 | G | C | TP53 | nonsynonymous SNV | 0 | 0.40 | |
| 48604664 | C | T | SMAD4 | nonsynonymous SNV | 1 | 0.08 | |
| Oncogenes | |||||||
| 70118935 | C | T | SOX9 | synonymous SNV | 0 | 0.13 | |
| 114912121 | G | A | TCF7L2 | synonymous SNV | 0 | 0.08 | |
| 114910829 | A | G | TCF7L2 | synonymous SNV | 0 | 0.05 | |
| 30732970 | G | A | TGFBR2 | nonsynonymous SNV | 0 | 0.06 | |
| 30713842 | C | T | TGFBR2 | synonymous SNV | 0 | 0.02 | |
| 178916890 | C | T | PIK3CA | nonsynonymous SNV | 0 | 0.06 | |
| 178952085 | A | G | PIK3CA | nonsynonymous SNV | 0 | 0.06 | |
| 25368462 | C | T | KRAS | synonymous SNV | 0 | 0.67 |