Table 1.
The screened SNV panel in Set A (father only), Set B (shared), and Set C (son only)
Set | CHR | Gene | SIFT | PPH2 | Condel | Label | Mutation |
---|---|---|---|---|---|---|---|
Set A | 12 | SH2B3 | 0.01 | 0.887 | 0.436286 | N | P242S |
5 | MAP3K1 | 0.36 | 0.915 | 0.462039 | N | D806N | |
13 | PARP4 | 0.32 | 0.002 | 0.52522 | D | A1656P | |
9 | PTCH1 | 0.22 | 0.444 | 0.539701 | D | P1315L | |
2 | UGT1A1 | 0.07 | 0.745 | 0.477712 | N | G71R | |
4 | TET2 | 0.01 | 0.867 | 0.425092 | N | P29R | |
4 | KDR | 0.35 | 0.011 | 0.54766 | D | Q472H | |
Set B | 2 | BARD1 | 0.77 | 0.015 | 0.525271 | D | R378S |
17 | TP53 | 0.17 | 0.372 | 0.541323 | D | P72R | |
13 | CUL4A | 0.16 | 0.054 | 0.546327 | D | K644R | |
12 | PIK3C2G | 0.04 | 0.985 | 0.612421 | D | P952L | |
1 | PARP1 | 0.05 | 0.783 | 0.421476 | N | K940R | |
1 | PARP1 | 0.24 | 0.731 | 0.385322 | N | V762A | |
2 | ALK | 0.38 | 0.003 | 0.545637 | D | K1491R | |
9 | JAK2 | 0.05 | 0.027 | 0.552008 | D | G127D | |
13 | PARP4 | 0.12 | 0.999 | 0.359572 | N | A899T | |
17 | BRCA1 | 0.05 | 0.523632 | D | S1634G | ||
17 | BRCA1 | 0.04 | 0.065 | 0.632809 | D | E1038G | |
9 | TSC1 | 0.44 | 0.015 | 0.53961 | D | Q654E | |
Set C | 17 | TP53 | 0.17 | 0.372 | 0.541323 | D | P72R |
16 | FANCA | 0.3 | 0.003 | 0.536669 | D | T1328A | |
3 | BCL6 | 0.03 | 0.994 | 0.564365 | D | A2T | |
12 | PIK3C2G | 0.04 | 0.985 | 0.612421 | D | P952L | |
17 | RNF43 | 0 | 0.902 | 0.447911 | N | R117H | |
5 | FGFR4 | 0.04 | 0.803 | 0.52572 | D | G388R | |
13 | FLT3 | 0.15 | 0.743 | 0.516309 | N | T227M | |
17 | ERBB2 | 0.03 | 0.473 | 0.566675 | D | P1170A | |
20 | PAK7 | 0 | 0.524865 | D | R335P | ||
16 | FANCA | 0.11 | 0.349 | 0.598574 | D | A412V | |
5 | NSD1 | 0.852 | 0.519655 | N | S726P | ||
11 | MEN1 | 0.06 | 0.02 | 0.597615 | D | R300Q | |
9 | TSC1 | 0.44 | 0.015 | 0.53961 | D | Q654E |
Abbreviations: PPH2, PolyPhen-2; SIFT, Sorting Intolerant from Tolerant; SNV, single nucleotide variant; CHR, chromosome.