Table 1.
Young PV sample |
chr | start | ref | var | type | gene | strand | mut type | aa change | Tumor VAF |
---|---|---|---|---|---|---|---|---|---|---|
331060 | 9 | 5073770 | G | T | SNP | JAK2 | 1 | missense | p.V617F | 16.5 |
465783 | 9 | 5073770 | G | T | SNP | JAK2 | 1 | missense | p.V617F | 18.93 |
551599 | 9 | 5073770 | G | T | SNP | JAK2 | 1 | missense | p.V617F | 45.51 |
638517 | 9 | 5073770 | G | T | SNP | JAK2 | 1 | missense | p.V617F | 39.9 |
697576 | 9 | 5073770 | G | T | SNP | JAK2 | 1 | missense | p.V617F | 13.6 |
732651 | 9 | 5073770 | G | T | SNP | JAK2 | 1 | missense | p.V617F | 17.36 |
993645 | 9 | 5073770 | G | T | SNP | JAK2 | 1 | missense | p.V617F | 11.03 |
Old PV sample | chr | start | ref | var | type | gene | strand | mut type | aa change |
Tumor VAF |
149502 | 20 | 31022264 | G | A | SNP | ASXL1 | 1 | nonsense | p.W583* | 11.13 |
149502 | 9 | 5073770 | G | T | SNP | JAK2 | 1 | missense | p.V617F | 5.14 |
208617 | 9 | 5073770 | G | T | SNP | JAK2 | 1 | missense | p.V617F | 46.87 |
336362 | 20 | 31021250 | C | T | SNP | ASXL1 | 1 | nonsense | p.R417* | 50 |
336362 | 9 | 5073770 | G | T | SNP | JAK2 | 1 | missense | p.V617F | 33.25 |
374024 | 4 | 106196695 | - | A | INS | TET2 | 1 | frame_shift_ins | p.T1676fs | 41.8 |
374024 | 9 | 5073770 | G | T | SNP | JAK2 | 1 | missense | p.V617F | 39.62 |
374024 | 20 | 31022441 | - | G | INS | ASXL1 | 1 | frame_shift_ins | p.G645fs | 39.78 |
513509 | 9 | 5073770 | G | T | SNP | JAK2 | 1 | missense | p.V617F | 17.52 |
513509 | 22 | 29105992 | A | C | SNP | CHEK2 | −1 | splice_site | e7+2 | 16.57 |
513884 | 9 | 5073770 | G | T | SNP | JAK2 | 1 | missense | p.V617F | 17.91 |
513884 | 20 | 31023561 | GCTGACA | - | DEL | ASXL1 | 1 | frame_shift_del | p.A1016fs | 6.71 |
570655 | 9 | 5073770 | G | T | SNP | JAK2 | 1 | missense | p.V617F | 25.37 |
570655 | 2 | 25464537 | C | T | SNP | DNMT3A | −1 | missense | p.R659H | 7.87 |
673286 | 9 | 5073770 | G | T | SNP | JAK2 | 1 | missense | p.V617F | 92.24 |
673286 | 3 | 71027072 | G | A | SNP | FOXP1 | −1 | nonsense | p.Q419* | 50 |
673286 | 12 | 54686735 | T | - | DEL | NFE2 | −1 | frame_shift_del | p.Y182fs | 44.33 |
chr = chromosome; ref = reference; var = variant; mut type = mutation type; aa = amino acid; VAF = variant allele frequency; INS = insertion; DEL= deletion; SNP = single nucleotide polymorphism