Skip to main content
. 2016 Dec 16;8(5):7852–7866. doi: 10.18632/oncotarget.13977

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