Table 3 Somatic variants in different tumors by whole-exome sequencing
Gene symbol | Chr | Nucleotide change | Protein change | Variant type | Mutation type | dbSNP135 | 1000G_2011 Oct_AF | Variant allele frequencya | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Parathyroid Left upper | Parathyroid Left lower | Parathyroid Right upper | Pancreas | Blood | ||||||||
KIF21B | chr01 | c.G1738C | p.E580Q | SNV | nonsynonymous | – | – | 0.45 | 0.00 | 0.00 | 0.00 | 0.00 |
SRCAP | chr16 | c.C4012T | p.L1338F | SNV | nonsynonymous | – | – | 0.38 | 0.00 | 0.00 | 0.00 | 0.00 |
GRK6 | chr05 | c.G241C | p.V81 L | SNV | nonsynonymous | – | – | 0.00 | 0.17 | 0.00 | 0.00 | 0.00 |
C9orf100 | chr09 | c.G806C | p.S269 T | SNV | nonsynonymous | – | – | 0.00 | 0.33 | 0.00 | 0.00 | 0.00 |
CILP2 | chr19 | c.C2173T | p.R725C | SNV | nonsynonymous | – | – | 0.00 | 0.50 | 0.00 | 0.00 | 0.00 |
CIR1 | chr02 | c.724_725insGA | p.K242 fs | Indel | frameshift | – | – | 0.00 | – | 0.56 | 0.00 | 0.00 |
CNGA1 | chr04 | c.316_317insG | p.K106 fs | Indel | frameshift | – | – | 0.00 | 0.00 | 0.83 | 0.00 | 0.00 |
ZNF429 | chr19 | c.A1978T | p.R660X | SNV | stopgain | – | – | 0.00 | 0.00 | 0.00 | 0.21 | 0.00 |
SCARF2 | chr22 | c.2239_2240insG | p.P747fs | Indel | frameshift | rs5844420 | – | 0.00 | 0.00 | – | 0.40 | 0.00 |