Table 2. List of increased frequency of Single Nucleotide Variant (SNV) between TCGA GBM NB sample and 1000Genome1.
POS2 | dbSNP | REF3 | ALT4 | 1000GenomesPhase3_Info (EUR_AF) | No_mut # | Mut5 # | Total # | Nucleotide change | Amino acid change | P value | 95% CI6 (low) | 95% CI (high) |
---|---|---|---|---|---|---|---|---|---|---|---|---|
26093236 | rs1800758 | G | A | 0.0994 | 184 | 77 | 261 | c. 892+48G>A | <0.0001 | 0.2404 | 0.3544 | |
26094367 | rs1572982 | G | A | 0.4722 | 73 | 188 | 261 | c. 1007-47G>A | <0.0001 | 0.6616 | 0.7739 | |
26091336 | rs2071303 | T | C | 0.3658 | 121 | 140 | 261 | c. 340+4T>C | <0.0001 | 0.4739 | 0.5981 | |
26091179 | rs1799945 | C | G | 0.172 | 192 | 69 | 261 | c. 187C>G | His63Asp | 0.0002 | 0.2119 | 0.3223 |
26087856 | rs2858993 | T | A | 0.3976 | 120 | 117 | 237 | c. 76+112T>A | 0.0028 | 0.4283 | 0.5592 | |
26090381 | rs62396165 | C | G | 0.1074 | 37 | 12 | 49 | c. 77-688C>G | 0.0048 | 0.1334 | 0.3887 | |
26088407 | rs3799374 | A | G | 0.1113 | 31 | 11 | 42 | c. 76+663A>G | 0.0052 | 0.1386 | 0.4204 | |
26093141 | rs1800562 | G | A | 0.0427 | 241 | 20 | 261 | c. 845G>A | Cys282Tyr | 0.0129 | 0.0474 | 0.1159 |
26093297 | rs2794717 | G | A | 0.007 | 256 | 5 | 261 | c. 893-50G>A | 0.0378 | 0.0062 | 0.0441 |
1 The studied samples were all Caucasians
2POS: Position
3REF: Reference
4ALT: Alternative
5Mut: Mutation
6CI: Confidence interval