Table 2. Functional annotation of TET2 variants.
| #CHROM | POS | ID | REF | ALT | Consequence | SIFT | Polyphen2 | MutationTaster | CADD phred score |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 1.06E+08 | rs12498609 | C | G | Non synonymous | D | D | P | 23.5 |
| 4 | 1.06E+08 | rs111948941 | C | T | Non synonymous | D | B | D | 22.6 |
| 4 | 1.06E+08 | rs749148733 | TC | T | Frameshift deletion | . | . | . | 32 |
| 4 | 1.06E+08 | rs6843141 | G | A | Non synonymous | T | B | P | 14.05 |
| 4 | 1.06E+08 | rs17253672 | C | T | Non synonymous | D | P | N | 23 |
| 4 | 1.06E+08 | . | CA | C | Frameshift deletion | . | . | . | 23.8 |
| 4 | 1.06E+08 | rs747244398 | T | C | Synonymous_SNV | . | . | . | 10.13 |
| 4 | 1.06E+08 | . | G | T | Stopgain | T | . | D | 37 |
| 4 | 1.06E+08 | rs111678678 | C | T | Non synonymous | D | D | D | 23.7 |
| 4 | 1.06E+08 | . | A | G | Non synonymous | T | B | N | 10.81 |
| 4 | 1.06E+08 | . | C | T | Stopgain | D | . | D | 40 |
| 4 | 1.06E+08 | rs17319679 | G | A | ncRNA_intronic | . | . | . | 2.046 |
| 4 | 1.06E+08 | . | GGT GCC TCC |
G | Frameshift deletion | . | . | . | 34 |
| 4 | 1.06E+08 | rs34402524 | T | G | Non synonymous | T | P | P | 22 |
| 4 | 1.06E+08 | rs2454206 | A | G | Non synonymous | T | B | P | 0.074 |
| 4 | 1.06E+08 | rs62621450 | A | G | Non synonymous | T | D | P | 22.8 |
| 4 | 1.06E+08 | . | G | GGGACAATGACTGTTC CATTGTGTTCTGAGAA AACAAGACCAATGTCA | Frameshift Insertion | . | . | . | 25.7 |