Skip to main content
. Author manuscript; available in PMC: 2020 Jun 1.
Published in final edited form as: Leukemia. 2019 Jan 11;33(6):1522–1526. doi: 10.1038/s41375-018-0349-9

Table 1.

Primary and putative secondary driver mutations in young and old PV patients

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