Table 1. Molecular and cytogenetic... | American Society of Hematology

Table 1.

Molecular and cytogenetic profiles of 205 individuals with DDX41 variants

Patient	Diagnosis	gl DDX41	gl DDX41	VAF	Tier	s DDX41	s DDX41	VAF	Tiers	Concomitant variants	VAF (%)	Tier	Cytogenetics
										ASXL1 c.1900_1922del, p.E635fs	19	1
1*	AML	c.3G>A	p.M1I	44	1	c.1574G>A	p.R525H	6	1	PFH6 c.811G>A, p.E271K	12	1	46,XX[20]
										CUX1 c.607 + 1G>A, p.?	3	1
										CUX1 c.2786del, p.P929fs	1	1
2†	AML	c.3G>A	p.M1I	46	1	c.1574G>A	p.R525H	6	1	ASXL1 c.1900_1922del, p.E635fs	6	1	46,XX[20]
										PHF6 c.940A>T, p.I314F	4	2
										CUX1 c.2485C>T, p.Q829*	5	1
3	AML	c.3G>A	p.M1I	48	1	c.1574G>A	p.R525H	0	1	ASXL1 c.1627G>T, p.E543*	2	1	NI
										PHF6 c.880A>G, p.I294V	3	2
4†	AML	c.3G>A	p.M1I	48	1	c.1574G>A	p.R525H	16	1	ASXL1 c.1779dup, p.C594fs	8	1	45,X,-Y[6]/46,XY[14]
										SF3B1 c.2098A>G, p.K700E	4	1
										JAK2 c.1849G>T, p.V617F	5	1
5	AML	c.3G>A	p.M1I	48	1	c.1574G>A	p.R525H	3	1	ASXL1 c.2905_ 2926delinsTACTGTT, p.D969_N971delinsYC*	5	1	NI
										TP53 c.850A> C, p.T284P	5
										KMT2A c.2830_2847dup, p.D944_T949dup	33	2
6*,†	AML	c.3G>A	p.M1I	47	1	c.1574G>A	p.R525H	1	1	ASXL1 c.1761_1768del, p.Q588fs	20	1	45,XY,del(5)(q15q35), der(7;16)(q10;q10), add(10)(p11.2),
										BCORL1 c.1339C>T, p.Q447*	1	1	add(10)(q24),+20, -22[13]/45,XY,-4, del(5)(q15q35),
										TP53 c.743G>A, p.R248Q	2	1	der(7)t(7;9)(p11.2;q13), add(12)(p12), -13,+14,
										TP53 c.817C>T, p.R273C	1	1	add(14)(q32), add(18)(q21),-22,+mar[7]
7	AML	c.3G>A	p.M1I	45	1	c.1574G>A	p.R525H	5	1	ASXL1 c.3030_3031delinsTT, p.E1011*	3	1	46,XY[20]
										ASXL1 c.2122del, p.Q708fs	3	1
8	AML	c.3G>A	p.M1I	51	1	c.1574G>A	p.R525H	7	1	ASXL1 c.1960dup, p.A654fs	6	1	46,XY[20]
9†	AML	c.3G>A	p.M1I	58	1	c.1574G>A	p.R525H	3	1	ASXL1 c.3824C>G, p.S1275*	11	1	46,XY[20]
										ZRSR2 c.202_203del, p.R68fs	5	1
10*,†	AML	c.3G>A	p.M1I	47	1	c.1574G>A	p.R525H	1	1	DNMT3A c.1015-1G>C, p.?	5	1	46,XX[20]
										SETBP1 c.1977T>A, p.D659G	1	2
11	AML	c.3G>A	p.M1I	51	1	c.1574G>A	p.R525H	4	1	RUNX1 c.385C>G, p.L129V	6	2	46,XX[20]
										JAK2 c.1849G>T, p.V617F	4	1
12†	AML	c.3G>A	p.M1I	52	1	c.1574G>A	p.R525H	5	1	RUNX1 c.776_777del, p.F259*	5	1	46,XX[20]
										NF1 c.2033dupC, p.I679fs	45	1
13	AML	c.3G>A	p.M1I	50	1	c.1574G>A	p.R525H	3	1				46,XX[20]
14†	AML	c.3G>A	p.M1I	46	1	c.1574G>A	p.R525H	2	1				trisomy 8
15†	AML	c.3G>A	p.M1I	47	1	c.1574G>A	p.R525H	6	1				46,XX[20]
16†	AML	c.3G>A	p.M1I	50	1	c.1574G>A	p.R525H	7	1				NI
17†	AML	c.3G>A	p.M1I	43	1	c.1574G>A	p.R525H	5	1				46,XY[20]
18†	AML	c.3G>A	p.M1I	49	1	c.1574G>A	p.R525H	7	1				46,XY[19]
19*	AML	c.3G>A	p.M1I	47	1	c.1574G>A	p.R525H	11	1				46,XY[20]
20*,†	AML	c.3G>A	p.M1I	44	1	c.971G>A	p.C264Y	5	1				45,X,-Y[6]/46,XY[14]
21†	AML	c.3G>A	p.M1I	45	1	c.1037C>T	p.A346P	3	1				46,XY[20]
22†	AML	c.3G>A	p.M1I	50	1					ASXL1 c.1934dup, p.G646fs	13	1	46, XY[20]
										KRAS c.35G>T, p.G12V	13	1
23	AML	c.3G>A	p.M1I	41	1					ASXL1 c.1934dup, p.G646fs	28	1	45, XY, −7[16]/46, XY, [4].
24†	AML	c.3G>A	p.M1I	49	1					RUNX1 c.743dupA, p.N248fs	21	1	46,XY, del(5)(q13q33)[2]/47, sl,+21[2]/
										TP53 c.827C>A, p.A276D	7	1	46∼48, sdl1,t(1;2) (p36.3;q31), t(1;6)(³²P;q27)t(1;2), +mar[cp16]
25	AML	c.323del	p.K108fs	51	1	c.1574G>A	p.R525H	9	1	TET2 c.3965T>A, p.L1322Q	9	1	46,XY[20]
										SRSF2 c.284C>T, p.P95L	13	1
										TP53 c.743G>A, p.R248Q	5	1
26	AML	c.415_418dup	p.D140fs	49	1	c.1574G>A	p.R525H	22	1	ASXL1 c.1924_1928del, p.G644fs	4	1	46,XX[20]
										TET2 c.2456dup, p.Y819*	4	1
										TET2 c.2459G>A, p.S820N	4	2
										SH2B3 c.1200dup, p.Y401fs	36	1
27	AML	c.415_418dup	p.D140fs	43	1	c.1574G>A	p.R525H	3	1	ASXL1 c.1900_1922del, p.E635fs	2	1	46,XY[20]
										DNMT3A c.976C>T, p.R326C	3	12
										CSF3R c.1640G>A, p.W547*	48
28†	AML	c.415_418dup	p.D140fs	43	1	c.1574G>A	p.R525H	5	1	ASXL1 c.1919_1929del, p.A640fs	7	1	46,XY[20]
										PHF6 c.834G>T, p.M278I	13	2
29	AML	c.415_418dup	p.D140fs	50	1	c.1574G>A	p.R525H	7	1	ASXL1 c.2275_2284del, p.Gln760fs	3	1	46,XY, inv(11)(q21q23)[20]
										TP53 c.830G>A, p.C277Y	6	1
30*,†	AML	c.415_418dup	p.D140fs	45	1	c.1574G>A	p.R525H	16	1	TET2 c.1847del, p.P616fs	1	1	46,XY[20]
										TET2 c.782_786del, p.S261*	1	1
31	AML	c.415_418dup	p.D140fs	45	1	c.1574G>A	p.R525H	1	1	TET2 c.5577_5578del, p.I1859fs	2	1	NI
32†	AML	c.415_418dup	p.D140fs	46	1	c.1574G>A	p.R525H	2	1	TET2 c.2340dup, p.V781fs	3	1	NI
										DDX41 c.138 + 5G>T, p.?	47	2
33	AML	c.415_418dup	p.D140fs	46	1	c.1574G>A	p.R525H	1	1	CUX1 c.2459G>A, p.W820*	1	1	NI
34†	AML	c.415_418dup	p.D140fs	46	1	c.1574G>A	p.R525H	2	1				46,XX[20]
35	AML	c.415_418dup	p.D140fs	42	1	c.1574G>A	p.R525H	6	1				46,XY[20]
36	AML	c.415_418dup	p.D140fs	43	1	c.1589G>A	p.G530D	35	1	ASXL1 c.3001dup, p.T1001fs	34	1	NI
										EZH2 c.349C>T, p.Q117*	31	1
										SETBP1 c.2608G>A, p.G870S	4	1
37	AML	c.415_418dup	p.D140fs	46	1								NI
38†	AML	c.415_418dup	p.D140fs	49	1								46,X,-X,der1, (X;1)(p11.3;p36.3), inv9(p12q13)c, +14[4]/46, XX, inv9c[16]
39†	AML	c.415_418dup	p.D140fs	47	1								46,XY[20]
40†	AML	c.415_418dup	p.D140fs	46	1								46,XY[19]
41	AML	c.415_418dup	p.D140fs	44	1								NI
42	AML	c.415_418dup	p.D140fs	46	1								46,XX[20]
43	AML	c.415_418dup	p.D140fs	44	1								46,XY[20]
44	AML	c.668dup	p.I224fs	45	1	c.1574G>A	p.R525H	16	1	ASXL1 c.2541del, p.T848fs	17	1	NI
										PHF6 c.138 + 1G>A, p.?	5	1
										PHF6 c.255C>G, p.C85W	9	2
45†	AML	c.847del	p.L283fs	43	1	c.1574G>A	p.R525H	5	1				NI
46	AML	c.946_947del	p.M316fs	52	1	c.1574G>A	p.R525H	3	1	CUX1 c.3855del, p.S1286fs	1	1	46,XY[20]
47	AML	c.1394del	p.G465fs	46	1	c.1574G>A	p.R525H	1	1	DNMT3A c.2026C>T, p.R676W	6	1	46,XY[20]
										ASXL1 c.2423_2427del, p.P808fs	5	1
										ASXL1 c.2060_2061del, p.C687fs	3	1
48	AML	c.121C>T	p.Q41*	48	1	c.1574G>A	p.R525H	1	1	ASXL1 c.1900_1922del, p.E635fs	10	1	N/A
										DNMT3A c.2256_2263del, p.W753*	15	1
										PHF c.820C>T, p.R274*	22	1
49	AML	c.121C>T	p.Q41*	45	1					TET2 c.4133G>A, p.C1378Y	44	1	NI
										GATA2 c.599dup, p.S201*	2	1
										KDM6A c.3704 + 1G>C, p.?	67	1
										ZRSR2 c.505C>T, p.R169*	93	1
										NPM1 c.860_863dup, p.W288fs	35	1
50	AML	c.475C>T	p.R159*	51	1	c.1589G>A	p.G530D	2	1	U2AF1 c.101C>A, p.S34Y	3	1	46,XY[20]
51	AML	c.931C>T	p.R311*	49	1	c.1589G>A	p.G530D	5	1	PHF6 c.730-1G>A, p.?	3	1	NI
										DNMT3A c.2255_2257del, p.F752del	1	1
52	AML	c.1105C>T	p.R369*	46	1	c.1574G>A	p.R525H	18	1	ASXL1 c.1900_1922del, p.E635fs	13	1	46,XY[20]
										SETBP1 c.2602G>A, p.D868N	5	1
										SETBP1 c.2608G>A, p.G870S	9	1
										SETBP1 c.2612T>C, p.I871T	5	1
53	AML	c.1105C>T	p.R369*	47	1	c.1574G>A	p.R525H	1	1	TET2 c.3632G>A, p.C1211Y	4	1	NI
										SH2B3 c.794G>A, p.R265Q	48	2
54	AML	c.1108C>T	p.Q370*	48	1	c.1588G>A	p.G530S	25	1	JAK2 c.1849G>T, p.V617F	22	1	46,XY[20]
55	AML	c.1504C>T	p.Q502*	49	1	c.1035G>C	p.E345D	10	1	ASXL1 c.2693G>A, p.W898*	9	1	45,X,-Y[14]/46,XY[6]
56†	AML	c.645-1G>T	p.?	45	1	c.1574G>A	p.R525H	1	1	ASXL1 c.3824C>G, p.S1275*	1	1	46,XY[20]
										DNMT3A c.1572T>A, p.C524*	1	1
57	AML	c.992_994del	p.K331del	48	1	c.1035G>C	p.E345D	14	1	ASXL1 p.E635fs	5	1	46,XY, der(7)add(7)(p13) add(7)(q11.2)[10]/45,XY, -der(7)[5]/46,XY[13]
										EZH2 p.N546K	7	2
58*,†	AML	c.646C>G	p.L216V	51	1	c.1035G>C	p.E345D	30	1	DNMT3A c.2656C>T, p.Q886*	31	1	NI
59	AML	c.653G>A	p.G218D	50	1	c.1589G>A	p.G530D	4	1	TP53 c.488A>G, p.Y163C	6	1	NI
										RUNX1 c.288_291delinsAAA, p.N96fs	3	1
										DNMT3A c.1627G>T, p.G543C	5	1
										DNMT3A c.1578C>G, p.Y526*	5	1
60	AML; breast cancer	c.773C>T	p.P258L	56	1	c.1574G>A	p.R525H	15	1				46,XY[20]
61	AML	c.967C>T	p.R323C	45	1	c.1574G>A	p.R525H	3	1	TET2 c.3585_3588delnsAG, p.A1196fs	5	1	NI
										SRSF2 c.284C>A, p.P95H	4	1
62	AML	c.1046T>A	p.M349K	45	1								46,XY[20]
63	AML	c.1046T>A	p.M349K	50	1								46,XY[20]
64	AML	c.1105C>G	p.R369G	48	1	c.1574G>A	p.R525H	5	1				46,XX[20]
65	AML	c.1399G>T	p.D467Y	45	1	c.1589G>A	p.G530D	13	1	ASXL1 c.1934dup, p.G646fs	13	1	NI
										ASXL1 c.1900_1922del, p.E635fs	2	1
										EZH2 c.2022G>C, p.L674F	3	1
										SETBP1 c.2608G>A, p.G870S	4	1
										EZH2 c.2197T>A, p.Y733N	10	1
										SETBP1 c.2612T>C, p.I871T	8	1
66	AML	c.1574G>A	p.R525H	54	1								NI
67	MDS	c.3G>A	p.M1I	45	1	c.1574G>A	p.R525H	2	1	DNMT3A c.1010C>G, p.S337*	1	1	NI
68	MDS	c.3G>A	p.M1I	49	1	c.1574G>A	p.R525H	6	1				46,XY[20]
69	MDS	c.3G>A	p.M1I	43	1	c.1574G>A	p.R525H	4	1				46,XX[20]
70	MDS	c.3G>A	p.M1I	53	1	c.1574G>A	p.R525H	2	1				46,XY[20]
71	MDS	c.3G>A	p.M1I	50	1	c.694A>G	p.T232A	3	1				46,XY[20]
72	MDS	c.3G>A	p.M1I	49	1	c.962C>T	p.P321L	14	1	DNMT3A c.1792C>T, p.598*	14	1	46,XY[20]
73	MDS	c.3G>A	p.M1I	49	1	c.962C>T	p.P321L	14	1				46,XY[20]
74	MDS	c.3G>A	p.M1I	48	1	c.1037C>T	p.A346P	3	1				46,XY[20]
75	MDS	c.3G>A	p.M1I	46	1	c.1643T>A	p.L548H	4	1				46,XX[20]
76	MDS; MM; MBL	c.3G>A	p.M1I	50	1					DNMT3A c.2645G>A, p.R882H	15	1	46,XX[20]
77	MDS	c.3G>A	p.M1I	46	1					PTPN11 c.215C>T, p.A72V	42	1	47,XY,del(5)(q13q33), +21[2]/48,sl,t(9;21) (q10;q10), +21[12]/
										RUNX1 c.1036dup, p.R346fs	32	1
78	MDS	c.3G>A	p.M1I	49	1					JAK2 c.1849G>T, p.V617F	1	1	46,XY[20]
79	MDS	c.3G>A	p.M1I	49	1								45,X,-Y[6]/46,XY[14]
80	MDS	c.415_418dup	p.D140fs	44	1	c.1574G>A	p.R525H	10	1	ASXL1 c.4127dup, p.P1377fs	12	1	NI
81	MDS	c.415_418dup	p.D140fs	45	1	c.794C>T	p.P265L	27	1	DNMT3A c.1579C>T, p.Q527*	9	1	46,XY[20]
82	MDS	c.1496dup	p.A500fs	47	1	c.1660G>A	p.E554K	2	1				46,XY[20]
83	MDS	c.130C>T	p.Q44*	60	1	c.1126C>T	p.A376T	2	1	DNMT3A c.2207G>A, p.R736H	7	1	46,XX[20]
84	MDS	c.475C>T	p.R159*	47	1	c.1589G>A	p.G530D	6	1				NI
						c.1574G>A	p.R525H	3	1
						c.1588G>A	p.G530S	1	2
85	MDS	c.931C>T	p.R311*	51	1	c.1574G>A	p.R525H	6	1	SRSF2 c.284C>T, p.P95L	3	1	NI
86	MDS	c.931C>T	p.R311*	50	1	c.1574G>A	p.R525H	7	1				NI
87	MDS	c.992_994del	p.K331del	43	1	c.1574G>A	p.R525H	14	1	TET2 c.3866G>T, p.C1289F	3	1	46,XY[20]
88	MDS	c.992_994del	p.K331del	48	1								46,XY[20]
89	MDS	c.566C>T	p.P189L	49	1	c.1574G>A	p.R525H	4	1	EZH2 c.434T>C, p.F145S	3	1	NI
90	MDS	c.710T>G	p.L237W	49	1	c.1589G>A	p.G530D	13	1				46,XY[20]
91	MDS	c.1016G>A	p.R339H	51	1					IDH1 c.605del, p.S202fs	31	2	45,X,-Y/46,XY[15]
92	MDS	c.1015C>T	p.R339C	49	1	c.680C>T	p.T227M	13	1	TET2 c.1793del, p.N598fs	2	1	46,XY[20]
93	MDS	c.1018T>A	p.Y340N	47	1	c.1574G>A	p.R525H	7	1	CUX1, c.2389del, p.Q797fs	13	1	46,XY[20]
										EZH2 c.371A>G, p.D124G	15	2
94*	MDS	c.1105C>G	p.R369G	47	1	c.645-1G>A	p.?	1	1	TET2 c.1263del; p.G422fs	31	1	NI
										TET2 c.3860_3869del, p.F1287fs	1	1
95	Pancytopenia	c.3G>A	p.M1I	47	1	c.1574G>A	p.R525H	14	1	JAK2 c.1849G>T, p.V617F	15	1	NI
										TET2 c.1648C>T, p.R550*	7	1
96	Pancytopenia	c.3G>A	p.M1I	47	1	c.1574G>A	p.R525H	2	1				NI
97	Pancytopenia	c.415_418dup	p.D140fs	46	1	c.1574G>A	p.R525H	9	1				46,XY, del(20)(q11.2q13.1) [1]/46,XY[20]
98	Pancytopenia	c.430del	p.T144fs	45	1	c.1574G>A	p.R525H	4	1	ASXL1c.4002del, p.S1335fs	21	1	NI
										TP53 c.586C>T, p.R196*	4	1
										TP53 c.916C>T, p.R306*	3	1
										IDH2 c.419G>A, p.R140Q	2	1
99	Pancytopenia	c.946_947del	p.M316fs	47	1	c.1574G>A	p.R525H	5	1	ASXL1 c.2644C>T, p.Q882*	6	1	46,XY[20]
										PHF6 c.941T>C, p.I314T	11	2
100	Pancytopenia	c.1354del	p.L452fs	48	1	c.1574G>A	p.R525H	8	1	DNMT3A c.929T>C, p.I310T	5	1	46,XY[20]
101	Pancytopenia	c.475C>T	p.R159*	48	1	c.1574G>A	p.R525H	12	1	SRSF2 c.284C>A, p.P95H	10	1	NI
										STAG2 c.1243C>T, p.H415Y	16	2
102	Pancytopenia	c.1628C>G	p.S543*	50	1	c.1574G>A	p.R525H	4	1	ASXL1 c.1934dup, p.G646fs	3	1	NI
										RUNX1 c.540del, p.F180fs	3	1
										PHF6 c.941T>C, p.I314T	7	1
										KDM6A c.2665del, p.T889fs	1	1
103	Pancytopenia	c.649T>C	p.S217P	48	1	c.1589G>A	p.G530D	9	1	ASXL1 c.2467_2468insA, p.L823fs	7	1	NI
										KRAS c.437C>T, p.A146V	3	1
										SRSF2 c.47T>A, p.L16H	7	2
104	Pancytopenia	c.773C>T	p.P258L	47	1	c.1574G>A	p.R525H	4	1	KDM6A c.3107delT, p.F1036fs	2	1	NI
										SRSF2 c.284C>A, p.P95H	7	1
105	Pancytopenia	c.776A>G	p.Y259C	48	1	c.1574G>A	p.R525H	6	1	FBXW7 c.62G>A, p.G21D	19	2	46,XY[20]
106	Pancytopenia	c.1016G>T	p.R339L	50	1	c.1574G>A	p.R525H	1	1				NI
107	Thrombocytopenia	c.415_418dup	p.D140fs	45	1	c.1574G>A	p.R525H	10	1	ASXL1 c.1900_1922del, p.E635fs	2	1	NI
										CUX1 c.2161C>T, p.Q721*	8	1
										SMC1A c.2132G>A, p.R711Q	4	2
108	Thrombocytopenia	c.1586_ 1587delCA	p.T529fs	52	1					TP53 c.1024C>T, p.R342*	40	1	46,XX[20]
109	Thrombocytopenia	c.3G>A	p.M1I	45	1	c.962C>T	p.P321L	23	1	RUNX1 c.281G>A, p.S94N	30	1	NI
										TP53 c.742C>T, p.R248W	35	1
										SRSF2 c.284C>G, p.P95R	26	1
110	Neutropenia	c.3G>A	p.M1I	48	1	c.1574G>A	p.R525H	10	1				NI
111	Neutropenia	c.3G>A	p.M1I	47	1	c.1574G>A	p.R525H	1	1				NI
112	Anemia	c.1105C>T	p.R369*	45	1	c.1574G>A	p.R525H	5	1	ASXL1 c.1934dup, p.G646fs	7	1	46,XX,+1, der(1;7)(q10;p10) [16]/46,XX[4]
										EZH2 c.786dup, p.N263fs	4	1
										SETBP1 c.2613_2614delinsGC, p.I871_G872delinsMR	4	2
113	MPN	c.415_418dup	p.D140fs	49	1								46,XX[20]
114	MPN	c.946_947del	p.M316fs	48	1								NI
115	MPN	c.916C>T	p.Q306*	48	1								46,XX[20]
116	MPN	c.1141A>T	p.K381*	44	1	c.1574G>A	p.R525H	7	1	CUX1 c.988C>T, p.Q330*	7	1	46,XY[20]
117	AML	c.6G>T	p.E2D	48	2					FLT3 c.1805_1806ins42, p.K602_W603ins14	n/a	1	46,XX[20]
										NPM1 c.863_864insCCTG, p.W288fs	35	1
										WT1 c.1141_1144dup, p.A382fs	8	1
118*	AML	c.55G>A	p.G19R	48	2					FLT3 ITD c.1837 + 11_1837 + 12ins114, p.?	n/a	1	NI
										NPM1 c.863_864insCCTG, p.W288fs	43	1
										IDH1 c.395G>A, p.R132H	41	1
										DNMT3A c.1627G>T, p.G543C	42	1
119*	AML	c.97T>C	p.Y33H	45	2					FLT3 c.1770_1811dup42, p.W603_E604ins14	n/a	1	NI
										NPM1 c.860_863dup, p.W288fs	18	1
										DNMT3A c.860_863dup, p.W288fs	27	1
										TET2 c.2490dup, p.Q831fs	23	1
120	AML	c.465G>A	p.M155I	47	2					NPM1 c.860_863dup, p.W288fs	7	1	46,XY[20]
										SRSF2 c.284C>G, p.P95R	28	1
										TET2 c.2244dup, p.Q749fs	44	1
121	AML	c.465G>A	p.M155I	47	2					NPM1 c.863_864insCTTG, p.W288Cfs	33	1	46,XY[20]
										GATA2 c.599dup, p.S201*	2	1
122*	AML	c.491G>A	p.R164N	48	2	c.1774A>T	p.I592F	35	2	NPM1 c.863_864insCTTG, p.W288Cfs	33	1	46,XX[20]
123	AML	c.1528C>T	p.P510S	48	2					NPM1 c.860_863dup, p.W288fs	34	1	46,XY[20]
										SRSF2 c.284C>T, p.P95L	42	1
										KRAS c.35G>A, p.G12D	11	1
124	AML	c.380T>A	p.M127K	49	2					FLT3 c.2505T>G, p.D835E	3	1	46,XY,+12, der(17)t(17;18) (p10;q10),-18[8]
										TP53 c.400T>A, p.F134I	46	1
										TP53 c.458_462del, p.P153fs	3	1
										U2AF1 c.101C>A, p.S34Y	6	1
										KRAS c.351A>T, p.K117N	27	1
125	AML	c.465G>A	p.M155I	47	2					FLT3 p.N841K	7	1	46,XY[20]
										KRAS c.35G>T, p.G12V	3	1
126	AML	c.199G>C	p.G67R	50	2					ASXL1 c.2959G>T, p.G987*	47	1	46,XY[20]
										CEBPA c.985_986insCC, E329fs	42	1
										CEBPA c.68del, p.P23fs	46	1
										IDH2 c.418C>T, p.R140W	48	1
										JAK2 c.1849G>T, p.V617F	6	1
127	AML	c.199G>C	p.G67R	48	2					ASXL1 c.2959G>T, p.G987*	22	1	46,XY[20]
										IDH2 c.418C>T, p.R140W	25	1
										SRSF2 c.284C>A, p.P95H	28	1
										STAG2 c.1196 + 1G>A, p.?	4	1
										STAG2 c.1999del, p.R667fs	15	1
128*	AML	c.465G>A	p.M155I	51	2								48,XY,+8,+22[20]
129	AML	c.883G>A	p.A295T	53	2					TP53 c.743G>A, p.R248Q	35	1	44,XY,-3,add(5) (q11.2),+8, add(8)(q22), der(12;17)(q10;q10),
										TP53 c.818G>A, p.R273H	15	1	−14,i(14)(q10), i(21)(q10)[12]/ 43-45, sl,-add(5)(q11.2), i(5)(q10)[cp4]/88 < 4n>,slx2[1]
130	AML	c.893T>C	p.I298T	49	2					DNMT3A c.989G>A, p.W330*	2	1	NI
										TP53 c.844C>T, p.R282W	61	1
										TP53 c.535C>T, p.H179Y	4	1
										PTPN11 c.1504T>C, p.S502P	2	1
131	AML	c.1063G>A	p.E355K	47	2					PHF6 c.418 + 2T>C, p.?	21	1	46,XX[7]
										KMT2A c.10462C>T, p.Gln3488*	25	2
132	AML	c.465G>A	p.M155I	48	2					NRAS c.181C>A, p.Q61K	15	1	46,XY,inv(16) (p13.1q22)[20]
133	AML	c.465G>A	p.M155I	47	2					CSF3R c.1843A>G, p.T615A CSF3R c.1853C>T, p.T618I	22 4	1 1	46,XX, der(8)t(8;21) (q22;q22), der(8)?(8pter-> 8p22::?:: 8p11.2-> 8q?13::8q22 ->8qter), der(21)(21pter-> 21q22::8?q13-> 8q?22:: 8q22-> 8qter)[7]/45, sl,-X[8]/46,XX[5]
134	AML	c.138 + 5G>A	p.?	50	2					NRAS c.181C>A, p.Q61Lys	39	1	47,XY, +8,inv(16) (p13.1q22)[20]
135	MDS	c.367G>A	p.G123S	48	2					ASXL1 c.2239_2244delinsCC, p.S747fs	42	1	46,XX[20]
										ASXL1 c.1934dup, p.G646fs	2	1
										TET2 c.5543C>G, p.S1848*	1	1
										EZH2 c.1119dup, p.T374fs	2	1
										IDH2 c.419G>A, p.R140Q	31	1
										SF3B1 c.2347G>A, p.E783K	2	2
										JAK2 c.1849G>T, p.V617F	1	1
136	MDS	c.465G>A	p.M155I	43	2					JAK2 c.1849G>T, p.V617F	27	1	NI
										DNMT1 c.4663G>A, p.V1555M	32	2
										SH2B3 c.127C>T, p.R43C	35	2
137	MDS	c.644 + 5G>C	p.?	43	2					SH2B3 c.947_953del, p.E316fs	21	1	47,XY, +9,del(20) (q11.2q13.1)[19]/46,XY[1]
										JAK2 c.1849G>T, p.V617F	40	1
138	MDS	c.523G>A	p.G175S	48	2					NRAS c.34G>A, p.G12S	44	1	NI
										TET2 c.2290dup, p.Q764fs	50	1
										GATA2 c.599del, p.G200fs	1	1
										SRSF2 c.284C>A, p.P95H	47	1
139	MDS	c.529C>T	p.P177S	45	2					SMC1A c.197A>G, p.H66R	9	2	NI
										BCOR c.441dup, p.Ile148fs	50	1
										U2AF1 c.101C>T, p.S34F	37	1
										RUNX1 c.601del, p.R201fs	10	1
140	MDS	c.1301C>T	p.P434L	49	2					GATA2 c.599dup; p.S201*	31	1	46,XY[20]
										NPM1 c.867_868insAGGA, p.W290fs	48	1
141	MDS	c.1528C>T	p.P510S	48	2					ASXL1 c.1934dup, p.G646fs	35	1	NI
										CBL c.800G>A, p.G267D	2	2
142	MDS	c.1704C>G	p.C568W	48	2					KIT c.2446_2447delinsAT, p.D816I	10	1	NI
										KIT c.2447A>T, p.D816V	1	1
										PTPN11 c.154A>G, p.T52A	5	1
										PTPN11 c.1508G>A, p.G503E	3	2
143	MDS/MPN	c.1760G>C	p.G587A	47	2					CSF3R c.1853C>T, p.T618I	3	1	47,XY,+8[20]
										KRAS c.436G>C, p.A146P	37	1
										ASXL1 c.1900_1922del, p.E635fs	44	1
										STAG2 c.1191dup, p.Q399fs	92	1
144	MDS	c.1276G>A	p.E426K	49	2					SRSF2 c.284C>A, p.P95H	46	1	NI
										IDH2 c.419G>A, p.R140Q	45	1
145	MDS	c.1528C>T	p.P510S	48	2					TP53 c.734G>A, p.G45D	20	1	NI
146	MDS	c.1663G>A	p.A555T	43	2					TP53 c.706dup, p.Y236fs	39	1	44-47,XY, del(5)(q22q35), -7,der(11)t(11;13) (p15;q14),
										TP53 c.713G>A, p.C238Y	37	1
147	Pancytopenia	c.27G>A	p.K9K	43	2								NI
148	Pancytopenia	c.465G>A	p.M155I	50	2					SF3B1 c.1996A>G, p.K666E	19	1	45,X,-Y[14]/46,XY[6]
										U2AF1 c.101C>T, p.S34F	5	1
149	Pancytopenia	c.556A>T	p.M186L	47	2					ETNK1 c.731A>G, p.N244S	24	1	NI
	Small cell carcinoma									KRAS c.468C>G, p.F156L	18	2
150	Pancytopenia	c.656G>A	p.R219H	49	2	c.679A>G	p.T227A	30	2				46,XY[20]
151	Pancytopenia	c.845G>A	p.R282H	40	2					TP53 c.377A>G, p.Y126C	67	1	NI
										BRAF c.1391G>T, p.G464V	38	1
152	Pancytopenia	c.881G>T	p.C294F	48	2					CBL c.1211G>A, p.C404Y	2	1	NI
153	Pancytopenia	c.1477T>G	p.S493A	47	2					ASXL1 c.1900_1922del, p.E635fs	15	1	NI
										ASXL1 c.1934dup, p.G646fs	3	1
										ASXL1 c.2295del, p.S766fs	1	1
										SH2B3 c.703C>G, p.R235G	16	1
154	Thrombocytopenia	c.465G>A	p.M155I	50	2								46,XY[20]
155	Thrombocytopenia	c.707C>T	p.T236M	47	2								NI
156	Thrombocytopenia	c.138 + 5G>A	p.?	54	2								NI
157	Thrombocytopenia	c.644 + 5G>C	p.?	47	2					RAD21 c.507_508del, p.E169fs	38	1	NI
										NRAS c.35G>A, p.G12D	20	1
										TP53 c.818G>A, p.R273H	31	1
										TP53 c.559 + 1G>A, p.?	42	1
158	Neutropenia	c.138 + 5G>A	p.?	50	2								NI
159	Anemia	c.751C>T	p.P251S	46	2								46,XX[20]
160	Anemia	c.1748C>T	p.A583V	47	2					PTPN11 c.227A>T, p.E76V	45	1	NI
161	MPN, PV	c.23G>A	p.R8Q	47	2					JAK2 c.1849G>T, p.V617F	45	1	46,XY[20]
162	MPN, PV	c.94G>A	p.D32N	48	2					JAK2 c.1849G>T, p.V617F	85	1	46,XY[20]
163	MPN, ET	c.398C>T	p.A133V	44	2					CALR c.1122_1125del, p.K374fs	44	1	NI
										U2AF1 c.470A>G, p.Q157R	45	1
										ZRSR2 c.236_237del, p.E79Afs	87	1
164	MPN	c.644T>C	p.I215T	48	2					JAK2 c.1849G>T, p.V617F	26	1	NI
										ASXL1 c.1934dup, p.G646fs	1	1
165	MPN	c.647T>C	p.L216P	48	2	c.1655T>G	p.L552R	14	2	JAK2 c.1849G>T, p.V617F	12	1	NI
										ASXL1 c.1900_1922del, p.E635fs	8	1
166	MPN, ET	c.707C>T	p.T236M	50	2					JAK2 c.1849G>T, p.V617F	18	1	46,XY[20]
										SF3B1 c.2110A>T, p.I704F	15	1
167	MPN	c.1471G>A	p.V491I	52	2					JAK2 c.1849G>T, p.V617F	47	1	46,XY[20]
										TP53 c.743G>A, p.R248Q	6	1
										TP53 c.742C>T, p.R248W	5	1
										NF1 c.2035del, p.I679fs	15	1
168	MPN, ET	c.1630G>T	p.V544L	49	2					JAK2 c.1849G>T, p.V617F	26	1	46,XY[20]
										SF3B1 c.1997A>C, p.K666T	16	1
169	MPN, ET	c.138 + 5G>T	p.?	49	2								NI
170	MPN, ET	c.465G>A	p.M155T	49	2								46,XX[20]
171	MPN	c.560A>G	p.K187R	46	2								NI
172	LPL with pancytopenia	c.490C>T	p.R164W	50	2					SF3B1 c.2098A>G, p.K700E	41	1	46,XY[20]
173	γ heavy chain disease	c.490C>T	p.R164W	49	2								46,XY[20]
	MYD88 negative LPL
174	CLL; breast cancer	c.490C>T	p.R164W	47	2								46,XY[20]
175	CLL	c.751C>T	p.P251S	50	2								46,XY, del(13)(q12;q22), add(18)(p11.20[4]/46,XY[16]
176	MM	c.29G>A	p.R10Q	46	2					TP53 c.376T>G, p.Y126D	24	1	44∼46,X, add(X)(p10), del(6)(q21q23), i(8)(q10),
										DNMT3A c.2339T>C, p.I780T	18	2	t(11;14)(q13;q32), del(13)(q12q22),- 14,-17,+1∼ 2mar[cp4]/46,XX[16]
										KDM6A c.1354_1355del, p.G452fs	26	1
177	AML					c.1574G>A	p.R525H	12	1	ASXL1 c.1774C>T, p.Q592*	4	1	46,XY,t(1;4)? (q21;q31)[2]/46,XY[6]
										PHF6 c.58del, p.C20fs	17	1
178	AML					c.1574G>A	p.R525H	25	1	ASXL1 c.2077C>T, p.R693*	2	1	46,XY[21]
179	AML					c.1574G>A	p.R525H	1	1	CBL c.1211G>A, p.C404Y	15	1	46,XX[20]
										U2AF2 c.766G>A, p.D256G	16	2
180	AML					c.1574G>A	p.R525H	4	1	SH2B3 c.519_523del, p.R175fs	3	1	45,X,-Y[5]/46,XY[15]
										PHF6 c.635G>T, p.C212F	8	2
181	AML					c.1574G>A	p.R525H	16	1	SRSF2 c.284C>A, p.P95H	17	1	46,X,del(X)?(q22q26)[2]/46,XX[18]
182	AML					c.1574G>A	p.R525H	9	1	SETBP1 c.2602G>C, p.D868H	2	1	NI
						c.944A>G	p.H315R	8	2	CUX1 c.439C>T, p.R147*	7	1
										STAG2 1693G>T, p.E565*	5	1
										EZH2 c.1967C>T, p.A656V	4	1
										ASXL1 c.2156del, p.E719fs	8	1
183	AML					c.1589G>A	p.G530D	15	1	ASXL1 c.2985del, p.H995fs	5	1	46,XY[20]
						c.629A>G	p.Q210R	15	2	ASXL1 c.2083C>T, p.R695*	3	1
										ASXL1 c.2077C>T, p.H963*	5	1
										EZH2 c.2213del, p.A738fs	15	1
										NF1 c.3774G>C, p.W1258C	12	1
184	AML; DLBCL					c.1589G>A	p.G530D	6	1				46,XY[20]
185	MDS					c.1574G>A	p.R525H	4	1	DNMT3A c.2645G>A, p.R882H	3	1	46,XX[11]
186	MDS					c.1574G>A	p.R525H	9	1				45,X,-Y[4]/46,XY[16]
187	MDS					c.1574G>A	p.R525H	10	1				46,XX[20]
188	MDS					c.1574G>A	p.R525H	1	1				46,XY[20]
189	MDS					c.1574G>A	p.R525H	4	1				46,XY[20]
190	AML					c.157C>G	p.R53G	5	2	SF3B1 c.2098A>G, p.K700E	32	1	NI
										PTPN11 c.214G>A, p.A72T	37	1
191	AML					c.1760_ 1761TT	p.G587V	4	2	DNMT3A c.2645G>A, p.R882H	7	1	46,XY[20]
										DNMT3A c.2095G>A, p.G699R	3	2
192	MDS					c.622C>G	p.Q208E	14	2	SETBP1 c.2608G>A, p.G870S	6	1	46,XY,del(7)(q22)[6]/46,XY[14]
										SETBP1 c.2602G>A, p.D868N	2	1
										DNMT3A c.2645G>A, p.R882H12	12	1
										EVT6 c.313C>G, p.R105G	2	2
										TET2 c.4079T>C, p.L1360P	1	2
193	MDS					c.1199G>T	p.R400L	3	2	ASXL1 c.2324T>G, p.L775*	20	1	46,XY, del(5)(q31q33) [13]/46,XX[7]
194	MDS					c.1369G>C	p.V457L	2	2	TP53 c.818G>A, p.R273H	30	1	46,XY, del(5)(q31q33) [14]/46,XX[6]
										TP53 c.578A>C, p.H193P	2	2
195	Neutropenia					c.1775T>A	p.I592N	4	2	SRSF2 c.284C>T, p.P95L	4	1	NI
										RUNX1 c.606dup, p.P203fs	2	1
										TET2 c.330G>C, p.Lys110N	3	2
196*	Normal	c.3G>A	p.M1I	53	1								46,XY[20]
197*	Normal	c.3G>A	p.M1I	50	1								46,XX[20]
198*	Normal	c.415_418dup	p.D140fs	46	1								Not done
199*	Normal	c.415_418dup	p.D140fs	45	1								NI
200*	Normal	c.415_418dup	p.D140fs	56	1								46,XY[20]
201*	Normal	c.992_994del	p.K331del	47	1								Not done
202	Normal∼(donor)	c.931C>T	p.311*	50	1								47,XX,+8[19]
203	Normal∼(donor)	c.465G>A	p.M155I	46	2								46,XY[20]
204	Normal∼(donor)	c.1693G>A	p.V565M	50	2								46,XY[20]
205	Normal∼(donor)	c.1585dup	p.T529fs	46	1								44,XY,inc[1]//46,XX[16]

Patient	Diagnosis	gl DDX41	gl DDX41	VAF	Tier	s DDX41	s DDX41	VAF	Tiers	Concomitant variants	VAF (%)	Tier	Cytogenetics
										ASXL1 c.1900_1922del, p.E635fs	19	1
1*	AML	c.3G>A	p.M1I	44	1	c.1574G>A	p.R525H	6	1	PFH6 c.811G>A, p.E271K	12	1	46,XX[20]
										CUX1 c.607 + 1G>A, p.?	3	1
										CUX1 c.2786del, p.P929fs	1	1
2†	AML	c.3G>A	p.M1I	46	1	c.1574G>A	p.R525H	6	1	ASXL1 c.1900_1922del, p.E635fs	6	1	46,XX[20]
										PHF6 c.940A>T, p.I314F	4	2
										CUX1 c.2485C>T, p.Q829*	5	1
3	AML	c.3G>A	p.M1I	48	1	c.1574G>A	p.R525H	0	1	ASXL1 c.1627G>T, p.E543*	2	1	NI
										PHF6 c.880A>G, p.I294V	3	2
4†	AML	c.3G>A	p.M1I	48	1	c.1574G>A	p.R525H	16	1	ASXL1 c.1779dup, p.C594fs	8	1	45,X,-Y[6]/46,XY[14]
										SF3B1 c.2098A>G, p.K700E	4	1
										JAK2 c.1849G>T, p.V617F	5	1
5	AML	c.3G>A	p.M1I	48	1	c.1574G>A	p.R525H	3	1	ASXL1 c.2905_ 2926delinsTACTGTT, p.D969_N971delinsYC*	5	1	NI
										TP53 c.850A> C, p.T284P	5
										KMT2A c.2830_2847dup, p.D944_T949dup	33	2
6*,†	AML	c.3G>A	p.M1I	47	1	c.1574G>A	p.R525H	1	1	ASXL1 c.1761_1768del, p.Q588fs	20	1	45,XY,del(5)(q15q35), der(7;16)(q10;q10), add(10)(p11.2),
										BCORL1 c.1339C>T, p.Q447*	1	1	add(10)(q24),+20, -22[13]/45,XY,-4, del(5)(q15q35),
										TP53 c.743G>A, p.R248Q	2	1	der(7)t(7;9)(p11.2;q13), add(12)(p12), -13,+14,
										TP53 c.817C>T, p.R273C	1	1	add(14)(q32), add(18)(q21),-22,+mar[7]
7	AML	c.3G>A	p.M1I	45	1	c.1574G>A	p.R525H	5	1	ASXL1 c.3030_3031delinsTT, p.E1011*	3	1	46,XY[20]
										ASXL1 c.2122del, p.Q708fs	3	1
8	AML	c.3G>A	p.M1I	51	1	c.1574G>A	p.R525H	7	1	ASXL1 c.1960dup, p.A654fs	6	1	46,XY[20]
9†	AML	c.3G>A	p.M1I	58	1	c.1574G>A	p.R525H	3	1	ASXL1 c.3824C>G, p.S1275*	11	1	46,XY[20]
										ZRSR2 c.202_203del, p.R68fs	5	1
10*,†	AML	c.3G>A	p.M1I	47	1	c.1574G>A	p.R525H	1	1	DNMT3A c.1015-1G>C, p.?	5	1	46,XX[20]
										SETBP1 c.1977T>A, p.D659G	1	2
11	AML	c.3G>A	p.M1I	51	1	c.1574G>A	p.R525H	4	1	RUNX1 c.385C>G, p.L129V	6	2	46,XX[20]
										JAK2 c.1849G>T, p.V617F	4	1
12†	AML	c.3G>A	p.M1I	52	1	c.1574G>A	p.R525H	5	1	RUNX1 c.776_777del, p.F259*	5	1	46,XX[20]
										NF1 c.2033dupC, p.I679fs	45	1
13	AML	c.3G>A	p.M1I	50	1	c.1574G>A	p.R525H	3	1				46,XX[20]
14†	AML	c.3G>A	p.M1I	46	1	c.1574G>A	p.R525H	2	1				trisomy 8
15†	AML	c.3G>A	p.M1I	47	1	c.1574G>A	p.R525H	6	1				46,XX[20]
16†	AML	c.3G>A	p.M1I	50	1	c.1574G>A	p.R525H	7	1				NI
17†	AML	c.3G>A	p.M1I	43	1	c.1574G>A	p.R525H	5	1				46,XY[20]
18†	AML	c.3G>A	p.M1I	49	1	c.1574G>A	p.R525H	7	1				46,XY[19]
19*	AML	c.3G>A	p.M1I	47	1	c.1574G>A	p.R525H	11	1				46,XY[20]
20*,†	AML	c.3G>A	p.M1I	44	1	c.971G>A	p.C264Y	5	1				45,X,-Y[6]/46,XY[14]
21†	AML	c.3G>A	p.M1I	45	1	c.1037C>T	p.A346P	3	1				46,XY[20]
22†	AML	c.3G>A	p.M1I	50	1					ASXL1 c.1934dup, p.G646fs	13	1	46, XY[20]
										KRAS c.35G>T, p.G12V	13	1
23	AML	c.3G>A	p.M1I	41	1					ASXL1 c.1934dup, p.G646fs	28	1	45, XY, −7[16]/46, XY, [4].
24†	AML	c.3G>A	p.M1I	49	1					RUNX1 c.743dupA, p.N248fs	21	1	46,XY, del(5)(q13q33)[2]/47, sl,+21[2]/
										TP53 c.827C>A, p.A276D	7	1	46∼48, sdl1,t(1;2) (p36.3;q31), t(1;6)(³²P;q27)t(1;2), +mar[cp16]
25	AML	c.323del	p.K108fs	51	1	c.1574G>A	p.R525H	9	1	TET2 c.3965T>A, p.L1322Q	9	1	46,XY[20]
										SRSF2 c.284C>T, p.P95L	13	1
										TP53 c.743G>A, p.R248Q	5	1
26	AML	c.415_418dup	p.D140fs	49	1	c.1574G>A	p.R525H	22	1	ASXL1 c.1924_1928del, p.G644fs	4	1	46,XX[20]
										TET2 c.2456dup, p.Y819*	4	1
										TET2 c.2459G>A, p.S820N	4	2
										SH2B3 c.1200dup, p.Y401fs	36	1
27	AML	c.415_418dup	p.D140fs	43	1	c.1574G>A	p.R525H	3	1	ASXL1 c.1900_1922del, p.E635fs	2	1	46,XY[20]
										DNMT3A c.976C>T, p.R326C	3	12
										CSF3R c.1640G>A, p.W547*	48
28†	AML	c.415_418dup	p.D140fs	43	1	c.1574G>A	p.R525H	5	1	ASXL1 c.1919_1929del, p.A640fs	7	1	46,XY[20]
										PHF6 c.834G>T, p.M278I	13	2
29	AML	c.415_418dup	p.D140fs	50	1	c.1574G>A	p.R525H	7	1	ASXL1 c.2275_2284del, p.Gln760fs	3	1	46,XY, inv(11)(q21q23)[20]
										TP53 c.830G>A, p.C277Y	6	1
30*,†	AML	c.415_418dup	p.D140fs	45	1	c.1574G>A	p.R525H	16	1	TET2 c.1847del, p.P616fs	1	1	46,XY[20]
										TET2 c.782_786del, p.S261*	1	1
31	AML	c.415_418dup	p.D140fs	45	1	c.1574G>A	p.R525H	1	1	TET2 c.5577_5578del, p.I1859fs	2	1	NI
32†	AML	c.415_418dup	p.D140fs	46	1	c.1574G>A	p.R525H	2	1	TET2 c.2340dup, p.V781fs	3	1	NI
										DDX41 c.138 + 5G>T, p.?	47	2
33	AML	c.415_418dup	p.D140fs	46	1	c.1574G>A	p.R525H	1	1	CUX1 c.2459G>A, p.W820*	1	1	NI
34†	AML	c.415_418dup	p.D140fs	46	1	c.1574G>A	p.R525H	2	1				46,XX[20]
35	AML	c.415_418dup	p.D140fs	42	1	c.1574G>A	p.R525H	6	1				46,XY[20]
36	AML	c.415_418dup	p.D140fs	43	1	c.1589G>A	p.G530D	35	1	ASXL1 c.3001dup, p.T1001fs	34	1	NI
										EZH2 c.349C>T, p.Q117*	31	1
										SETBP1 c.2608G>A, p.G870S	4	1
37	AML	c.415_418dup	p.D140fs	46	1								NI
38†	AML	c.415_418dup	p.D140fs	49	1								46,X,-X,der1, (X;1)(p11.3;p36.3), inv9(p12q13)c, +14[4]/46, XX, inv9c[16]
39†	AML	c.415_418dup	p.D140fs	47	1								46,XY[20]
40†	AML	c.415_418dup	p.D140fs	46	1								46,XY[19]
41	AML	c.415_418dup	p.D140fs	44	1								NI
42	AML	c.415_418dup	p.D140fs	46	1								46,XX[20]
43	AML	c.415_418dup	p.D140fs	44	1								46,XY[20]
44	AML	c.668dup	p.I224fs	45	1	c.1574G>A	p.R525H	16	1	ASXL1 c.2541del, p.T848fs	17	1	NI
										PHF6 c.138 + 1G>A, p.?	5	1
										PHF6 c.255C>G, p.C85W	9	2
45†	AML	c.847del	p.L283fs	43	1	c.1574G>A	p.R525H	5	1				NI
46	AML	c.946_947del	p.M316fs	52	1	c.1574G>A	p.R525H	3	1	CUX1 c.3855del, p.S1286fs	1	1	46,XY[20]
47	AML	c.1394del	p.G465fs	46	1	c.1574G>A	p.R525H	1	1	DNMT3A c.2026C>T, p.R676W	6	1	46,XY[20]
										ASXL1 c.2423_2427del, p.P808fs	5	1
										ASXL1 c.2060_2061del, p.C687fs	3	1
48	AML	c.121C>T	p.Q41*	48	1	c.1574G>A	p.R525H	1	1	ASXL1 c.1900_1922del, p.E635fs	10	1	N/A
										DNMT3A c.2256_2263del, p.W753*	15	1
										PHF c.820C>T, p.R274*	22	1
49	AML	c.121C>T	p.Q41*	45	1					TET2 c.4133G>A, p.C1378Y	44	1	NI
										GATA2 c.599dup, p.S201*	2	1
										KDM6A c.3704 + 1G>C, p.?	67	1
										ZRSR2 c.505C>T, p.R169*	93	1
										NPM1 c.860_863dup, p.W288fs	35	1
50	AML	c.475C>T	p.R159*	51	1	c.1589G>A	p.G530D	2	1	U2AF1 c.101C>A, p.S34Y	3	1	46,XY[20]
51	AML	c.931C>T	p.R311*	49	1	c.1589G>A	p.G530D	5	1	PHF6 c.730-1G>A, p.?	3	1	NI
										DNMT3A c.2255_2257del, p.F752del	1	1
52	AML	c.1105C>T	p.R369*	46	1	c.1574G>A	p.R525H	18	1	ASXL1 c.1900_1922del, p.E635fs	13	1	46,XY[20]
										SETBP1 c.2602G>A, p.D868N	5	1
										SETBP1 c.2608G>A, p.G870S	9	1
										SETBP1 c.2612T>C, p.I871T	5	1
53	AML	c.1105C>T	p.R369*	47	1	c.1574G>A	p.R525H	1	1	TET2 c.3632G>A, p.C1211Y	4	1	NI
										SH2B3 c.794G>A, p.R265Q	48	2
54	AML	c.1108C>T	p.Q370*	48	1	c.1588G>A	p.G530S	25	1	JAK2 c.1849G>T, p.V617F	22	1	46,XY[20]
55	AML	c.1504C>T	p.Q502*	49	1	c.1035G>C	p.E345D	10	1	ASXL1 c.2693G>A, p.W898*	9	1	45,X,-Y[14]/46,XY[6]
56†	AML	c.645-1G>T	p.?	45	1	c.1574G>A	p.R525H	1	1	ASXL1 c.3824C>G, p.S1275*	1	1	46,XY[20]
										DNMT3A c.1572T>A, p.C524*	1	1
57	AML	c.992_994del	p.K331del	48	1	c.1035G>C	p.E345D	14	1	ASXL1 p.E635fs	5	1	46,XY, der(7)add(7)(p13) add(7)(q11.2)[10]/45,XY, -der(7)[5]/46,XY[13]
										EZH2 p.N546K	7	2
58*,†	AML	c.646C>G	p.L216V	51	1	c.1035G>C	p.E345D	30	1	DNMT3A c.2656C>T, p.Q886*	31	1	NI
59	AML	c.653G>A	p.G218D	50	1	c.1589G>A	p.G530D	4	1	TP53 c.488A>G, p.Y163C	6	1	NI
										RUNX1 c.288_291delinsAAA, p.N96fs	3	1
										DNMT3A c.1627G>T, p.G543C	5	1
										DNMT3A c.1578C>G, p.Y526*	5	1
60	AML; breast cancer	c.773C>T	p.P258L	56	1	c.1574G>A	p.R525H	15	1				46,XY[20]
61	AML	c.967C>T	p.R323C	45	1	c.1574G>A	p.R525H	3	1	TET2 c.3585_3588delnsAG, p.A1196fs	5	1	NI
										SRSF2 c.284C>A, p.P95H	4	1
62	AML	c.1046T>A	p.M349K	45	1								46,XY[20]
63	AML	c.1046T>A	p.M349K	50	1								46,XY[20]
64	AML	c.1105C>G	p.R369G	48	1	c.1574G>A	p.R525H	5	1				46,XX[20]
65	AML	c.1399G>T	p.D467Y	45	1	c.1589G>A	p.G530D	13	1	ASXL1 c.1934dup, p.G646fs	13	1	NI
										ASXL1 c.1900_1922del, p.E635fs	2	1
										EZH2 c.2022G>C, p.L674F	3	1
										SETBP1 c.2608G>A, p.G870S	4	1
										EZH2 c.2197T>A, p.Y733N	10	1
										SETBP1 c.2612T>C, p.I871T	8	1
66	AML	c.1574G>A	p.R525H	54	1								NI
67	MDS	c.3G>A	p.M1I	45	1	c.1574G>A	p.R525H	2	1	DNMT3A c.1010C>G, p.S337*	1	1	NI
68	MDS	c.3G>A	p.M1I	49	1	c.1574G>A	p.R525H	6	1				46,XY[20]
69	MDS	c.3G>A	p.M1I	43	1	c.1574G>A	p.R525H	4	1				46,XX[20]
70	MDS	c.3G>A	p.M1I	53	1	c.1574G>A	p.R525H	2	1				46,XY[20]
71	MDS	c.3G>A	p.M1I	50	1	c.694A>G	p.T232A	3	1				46,XY[20]
72	MDS	c.3G>A	p.M1I	49	1	c.962C>T	p.P321L	14	1	DNMT3A c.1792C>T, p.598*	14	1	46,XY[20]
73	MDS	c.3G>A	p.M1I	49	1	c.962C>T	p.P321L	14	1				46,XY[20]
74	MDS	c.3G>A	p.M1I	48	1	c.1037C>T	p.A346P	3	1				46,XY[20]
75	MDS	c.3G>A	p.M1I	46	1	c.1643T>A	p.L548H	4	1				46,XX[20]
76	MDS; MM; MBL	c.3G>A	p.M1I	50	1					DNMT3A c.2645G>A, p.R882H	15	1	46,XX[20]
77	MDS	c.3G>A	p.M1I	46	1					PTPN11 c.215C>T, p.A72V	42	1	47,XY,del(5)(q13q33), +21[2]/48,sl,t(9;21) (q10;q10), +21[12]/
										RUNX1 c.1036dup, p.R346fs	32	1
78	MDS	c.3G>A	p.M1I	49	1					JAK2 c.1849G>T, p.V617F	1	1	46,XY[20]
79	MDS	c.3G>A	p.M1I	49	1								45,X,-Y[6]/46,XY[14]
80	MDS	c.415_418dup	p.D140fs	44	1	c.1574G>A	p.R525H	10	1	ASXL1 c.4127dup, p.P1377fs	12	1	NI
81	MDS	c.415_418dup	p.D140fs	45	1	c.794C>T	p.P265L	27	1	DNMT3A c.1579C>T, p.Q527*	9	1	46,XY[20]
82	MDS	c.1496dup	p.A500fs	47	1	c.1660G>A	p.E554K	2	1				46,XY[20]
83	MDS	c.130C>T	p.Q44*	60	1	c.1126C>T	p.A376T	2	1	DNMT3A c.2207G>A, p.R736H	7	1	46,XX[20]
84	MDS	c.475C>T	p.R159*	47	1	c.1589G>A	p.G530D	6	1				NI
						c.1574G>A	p.R525H	3	1
						c.1588G>A	p.G530S	1	2
85	MDS	c.931C>T	p.R311*	51	1	c.1574G>A	p.R525H	6	1	SRSF2 c.284C>T, p.P95L	3	1	NI
86	MDS	c.931C>T	p.R311*	50	1	c.1574G>A	p.R525H	7	1				NI
87	MDS	c.992_994del	p.K331del	43	1	c.1574G>A	p.R525H	14	1	TET2 c.3866G>T, p.C1289F	3	1	46,XY[20]
88	MDS	c.992_994del	p.K331del	48	1								46,XY[20]
89	MDS	c.566C>T	p.P189L	49	1	c.1574G>A	p.R525H	4	1	EZH2 c.434T>C, p.F145S	3	1	NI
90	MDS	c.710T>G	p.L237W	49	1	c.1589G>A	p.G530D	13	1				46,XY[20]
91	MDS	c.1016G>A	p.R339H	51	1					IDH1 c.605del, p.S202fs	31	2	45,X,-Y/46,XY[15]
92	MDS	c.1015C>T	p.R339C	49	1	c.680C>T	p.T227M	13	1	TET2 c.1793del, p.N598fs	2	1	46,XY[20]
93	MDS	c.1018T>A	p.Y340N	47	1	c.1574G>A	p.R525H	7	1	CUX1, c.2389del, p.Q797fs	13	1	46,XY[20]
										EZH2 c.371A>G, p.D124G	15	2
94*	MDS	c.1105C>G	p.R369G	47	1	c.645-1G>A	p.?	1	1	TET2 c.1263del; p.G422fs	31	1	NI
										TET2 c.3860_3869del, p.F1287fs	1	1
95	Pancytopenia	c.3G>A	p.M1I	47	1	c.1574G>A	p.R525H	14	1	JAK2 c.1849G>T, p.V617F	15	1	NI
										TET2 c.1648C>T, p.R550*	7	1
96	Pancytopenia	c.3G>A	p.M1I	47	1	c.1574G>A	p.R525H	2	1				NI
97	Pancytopenia	c.415_418dup	p.D140fs	46	1	c.1574G>A	p.R525H	9	1				46,XY, del(20)(q11.2q13.1) [1]/46,XY[20]
98	Pancytopenia	c.430del	p.T144fs	45	1	c.1574G>A	p.R525H	4	1	ASXL1c.4002del, p.S1335fs	21	1	NI
										TP53 c.586C>T, p.R196*	4	1
										TP53 c.916C>T, p.R306*	3	1
										IDH2 c.419G>A, p.R140Q	2	1
99	Pancytopenia	c.946_947del	p.M316fs	47	1	c.1574G>A	p.R525H	5	1	ASXL1 c.2644C>T, p.Q882*	6	1	46,XY[20]
										PHF6 c.941T>C, p.I314T	11	2
100	Pancytopenia	c.1354del	p.L452fs	48	1	c.1574G>A	p.R525H	8	1	DNMT3A c.929T>C, p.I310T	5	1	46,XY[20]
101	Pancytopenia	c.475C>T	p.R159*	48	1	c.1574G>A	p.R525H	12	1	SRSF2 c.284C>A, p.P95H	10	1	NI
										STAG2 c.1243C>T, p.H415Y	16	2
102	Pancytopenia	c.1628C>G	p.S543*	50	1	c.1574G>A	p.R525H	4	1	ASXL1 c.1934dup, p.G646fs	3	1	NI
										RUNX1 c.540del, p.F180fs	3	1
										PHF6 c.941T>C, p.I314T	7	1
										KDM6A c.2665del, p.T889fs	1	1
103	Pancytopenia	c.649T>C	p.S217P	48	1	c.1589G>A	p.G530D	9	1	ASXL1 c.2467_2468insA, p.L823fs	7	1	NI
										KRAS c.437C>T, p.A146V	3	1
										SRSF2 c.47T>A, p.L16H	7	2
104	Pancytopenia	c.773C>T	p.P258L	47	1	c.1574G>A	p.R525H	4	1	KDM6A c.3107delT, p.F1036fs	2	1	NI
										SRSF2 c.284C>A, p.P95H	7	1
105	Pancytopenia	c.776A>G	p.Y259C	48	1	c.1574G>A	p.R525H	6	1	FBXW7 c.62G>A, p.G21D	19	2	46,XY[20]
106	Pancytopenia	c.1016G>T	p.R339L	50	1	c.1574G>A	p.R525H	1	1				NI
107	Thrombocytopenia	c.415_418dup	p.D140fs	45	1	c.1574G>A	p.R525H	10	1	ASXL1 c.1900_1922del, p.E635fs	2	1	NI
										CUX1 c.2161C>T, p.Q721*	8	1
										SMC1A c.2132G>A, p.R711Q	4	2
108	Thrombocytopenia	c.1586_ 1587delCA	p.T529fs	52	1					TP53 c.1024C>T, p.R342*	40	1	46,XX[20]
109	Thrombocytopenia	c.3G>A	p.M1I	45	1	c.962C>T	p.P321L	23	1	RUNX1 c.281G>A, p.S94N	30	1	NI
										TP53 c.742C>T, p.R248W	35	1
										SRSF2 c.284C>G, p.P95R	26	1
110	Neutropenia	c.3G>A	p.M1I	48	1	c.1574G>A	p.R525H	10	1				NI
111	Neutropenia	c.3G>A	p.M1I	47	1	c.1574G>A	p.R525H	1	1				NI
112	Anemia	c.1105C>T	p.R369*	45	1	c.1574G>A	p.R525H	5	1	ASXL1 c.1934dup, p.G646fs	7	1	46,XX,+1, der(1;7)(q10;p10) [16]/46,XX[4]
										EZH2 c.786dup, p.N263fs	4	1
										SETBP1 c.2613_2614delinsGC, p.I871_G872delinsMR	4	2
113	MPN	c.415_418dup	p.D140fs	49	1								46,XX[20]
114	MPN	c.946_947del	p.M316fs	48	1								NI
115	MPN	c.916C>T	p.Q306*	48	1								46,XX[20]
116	MPN	c.1141A>T	p.K381*	44	1	c.1574G>A	p.R525H	7	1	CUX1 c.988C>T, p.Q330*	7	1	46,XY[20]
117	AML	c.6G>T	p.E2D	48	2					FLT3 c.1805_1806ins42, p.K602_W603ins14	n/a	1	46,XX[20]
										NPM1 c.863_864insCCTG, p.W288fs	35	1
										WT1 c.1141_1144dup, p.A382fs	8	1
118*	AML	c.55G>A	p.G19R	48	2					FLT3 ITD c.1837 + 11_1837 + 12ins114, p.?	n/a	1	NI
										NPM1 c.863_864insCCTG, p.W288fs	43	1
										IDH1 c.395G>A, p.R132H	41	1
										DNMT3A c.1627G>T, p.G543C	42	1
119*	AML	c.97T>C	p.Y33H	45	2					FLT3 c.1770_1811dup42, p.W603_E604ins14	n/a	1	NI
										NPM1 c.860_863dup, p.W288fs	18	1
										DNMT3A c.860_863dup, p.W288fs	27	1
										TET2 c.2490dup, p.Q831fs	23	1
120	AML	c.465G>A	p.M155I	47	2					NPM1 c.860_863dup, p.W288fs	7	1	46,XY[20]
										SRSF2 c.284C>G, p.P95R	28	1
										TET2 c.2244dup, p.Q749fs	44	1
121	AML	c.465G>A	p.M155I	47	2					NPM1 c.863_864insCTTG, p.W288Cfs	33	1	46,XY[20]
										GATA2 c.599dup, p.S201*	2	1
122*	AML	c.491G>A	p.R164N	48	2	c.1774A>T	p.I592F	35	2	NPM1 c.863_864insCTTG, p.W288Cfs	33	1	46,XX[20]
123	AML	c.1528C>T	p.P510S	48	2					NPM1 c.860_863dup, p.W288fs	34	1	46,XY[20]
										SRSF2 c.284C>T, p.P95L	42	1
										KRAS c.35G>A, p.G12D	11	1
124	AML	c.380T>A	p.M127K	49	2					FLT3 c.2505T>G, p.D835E	3	1	46,XY,+12, der(17)t(17;18) (p10;q10),-18[8]
										TP53 c.400T>A, p.F134I	46	1
										TP53 c.458_462del, p.P153fs	3	1
										U2AF1 c.101C>A, p.S34Y	6	1
										KRAS c.351A>T, p.K117N	27	1
125	AML	c.465G>A	p.M155I	47	2					FLT3 p.N841K	7	1	46,XY[20]
										KRAS c.35G>T, p.G12V	3	1
126	AML	c.199G>C	p.G67R	50	2					ASXL1 c.2959G>T, p.G987*	47	1	46,XY[20]
										CEBPA c.985_986insCC, E329fs	42	1
										CEBPA c.68del, p.P23fs	46	1
										IDH2 c.418C>T, p.R140W	48	1
										JAK2 c.1849G>T, p.V617F	6	1
127	AML	c.199G>C	p.G67R	48	2					ASXL1 c.2959G>T, p.G987*	22	1	46,XY[20]
										IDH2 c.418C>T, p.R140W	25	1
										SRSF2 c.284C>A, p.P95H	28	1
										STAG2 c.1196 + 1G>A, p.?	4	1
										STAG2 c.1999del, p.R667fs	15	1
128*	AML	c.465G>A	p.M155I	51	2								48,XY,+8,+22[20]
129	AML	c.883G>A	p.A295T	53	2					TP53 c.743G>A, p.R248Q	35	1	44,XY,-3,add(5) (q11.2),+8, add(8)(q22), der(12;17)(q10;q10),
										TP53 c.818G>A, p.R273H	15	1	−14,i(14)(q10), i(21)(q10)[12]/ 43-45, sl,-add(5)(q11.2), i(5)(q10)[cp4]/88 < 4n>,slx2[1]
130	AML	c.893T>C	p.I298T	49	2					DNMT3A c.989G>A, p.W330*	2	1	NI
										TP53 c.844C>T, p.R282W	61	1
										TP53 c.535C>T, p.H179Y	4	1
										PTPN11 c.1504T>C, p.S502P	2	1
131	AML	c.1063G>A	p.E355K	47	2					PHF6 c.418 + 2T>C, p.?	21	1	46,XX[7]
										KMT2A c.10462C>T, p.Gln3488*	25	2
132	AML	c.465G>A	p.M155I	48	2					NRAS c.181C>A, p.Q61K	15	1	46,XY,inv(16) (p13.1q22)[20]
133	AML	c.465G>A	p.M155I	47	2					CSF3R c.1843A>G, p.T615A CSF3R c.1853C>T, p.T618I	22 4	1 1	46,XX, der(8)t(8;21) (q22;q22), der(8)?(8pter-> 8p22::?:: 8p11.2-> 8q?13::8q22 ->8qter), der(21)(21pter-> 21q22::8?q13-> 8q?22:: 8q22-> 8qter)[7]/45, sl,-X[8]/46,XX[5]
134	AML	c.138 + 5G>A	p.?	50	2					NRAS c.181C>A, p.Q61Lys	39	1	47,XY, +8,inv(16) (p13.1q22)[20]
135	MDS	c.367G>A	p.G123S	48	2					ASXL1 c.2239_2244delinsCC, p.S747fs	42	1	46,XX[20]
										ASXL1 c.1934dup, p.G646fs	2	1
										TET2 c.5543C>G, p.S1848*	1	1
										EZH2 c.1119dup, p.T374fs	2	1
										IDH2 c.419G>A, p.R140Q	31	1
										SF3B1 c.2347G>A, p.E783K	2	2
										JAK2 c.1849G>T, p.V617F	1	1
136	MDS	c.465G>A	p.M155I	43	2					JAK2 c.1849G>T, p.V617F	27	1	NI
										DNMT1 c.4663G>A, p.V1555M	32	2
										SH2B3 c.127C>T, p.R43C	35	2
137	MDS	c.644 + 5G>C	p.?	43	2					SH2B3 c.947_953del, p.E316fs	21	1	47,XY, +9,del(20) (q11.2q13.1)[19]/46,XY[1]
										JAK2 c.1849G>T, p.V617F	40	1
138	MDS	c.523G>A	p.G175S	48	2					NRAS c.34G>A, p.G12S	44	1	NI
										TET2 c.2290dup, p.Q764fs	50	1
										GATA2 c.599del, p.G200fs	1	1
										SRSF2 c.284C>A, p.P95H	47	1
139	MDS	c.529C>T	p.P177S	45	2					SMC1A c.197A>G, p.H66R	9	2	NI
										BCOR c.441dup, p.Ile148fs	50	1
										U2AF1 c.101C>T, p.S34F	37	1
										RUNX1 c.601del, p.R201fs	10	1
140	MDS	c.1301C>T	p.P434L	49	2					GATA2 c.599dup; p.S201*	31	1	46,XY[20]
										NPM1 c.867_868insAGGA, p.W290fs	48	1
141	MDS	c.1528C>T	p.P510S	48	2					ASXL1 c.1934dup, p.G646fs	35	1	NI
										CBL c.800G>A, p.G267D	2	2
142	MDS	c.1704C>G	p.C568W	48	2					KIT c.2446_2447delinsAT, p.D816I	10	1	NI
										KIT c.2447A>T, p.D816V	1	1
										PTPN11 c.154A>G, p.T52A	5	1
										PTPN11 c.1508G>A, p.G503E	3	2
143	MDS/MPN	c.1760G>C	p.G587A	47	2					CSF3R c.1853C>T, p.T618I	3	1	47,XY,+8[20]
										KRAS c.436G>C, p.A146P	37	1
										ASXL1 c.1900_1922del, p.E635fs	44	1
										STAG2 c.1191dup, p.Q399fs	92	1
144	MDS	c.1276G>A	p.E426K	49	2					SRSF2 c.284C>A, p.P95H	46	1	NI
										IDH2 c.419G>A, p.R140Q	45	1
145	MDS	c.1528C>T	p.P510S	48	2					TP53 c.734G>A, p.G45D	20	1	NI
146	MDS	c.1663G>A	p.A555T	43	2					TP53 c.706dup, p.Y236fs	39	1	44-47,XY, del(5)(q22q35), -7,der(11)t(11;13) (p15;q14),
										TP53 c.713G>A, p.C238Y	37	1
147	Pancytopenia	c.27G>A	p.K9K	43	2								NI
148	Pancytopenia	c.465G>A	p.M155I	50	2					SF3B1 c.1996A>G, p.K666E	19	1	45,X,-Y[14]/46,XY[6]
										U2AF1 c.101C>T, p.S34F	5	1
149	Pancytopenia	c.556A>T	p.M186L	47	2					ETNK1 c.731A>G, p.N244S	24	1	NI
	Small cell carcinoma									KRAS c.468C>G, p.F156L	18	2
150	Pancytopenia	c.656G>A	p.R219H	49	2	c.679A>G	p.T227A	30	2				46,XY[20]
151	Pancytopenia	c.845G>A	p.R282H	40	2					TP53 c.377A>G, p.Y126C	67	1	NI
										BRAF c.1391G>T, p.G464V	38	1
152	Pancytopenia	c.881G>T	p.C294F	48	2					CBL c.1211G>A, p.C404Y	2	1	NI
153	Pancytopenia	c.1477T>G	p.S493A	47	2					ASXL1 c.1900_1922del, p.E635fs	15	1	NI
										ASXL1 c.1934dup, p.G646fs	3	1
										ASXL1 c.2295del, p.S766fs	1	1
										SH2B3 c.703C>G, p.R235G	16	1
154	Thrombocytopenia	c.465G>A	p.M155I	50	2								46,XY[20]
155	Thrombocytopenia	c.707C>T	p.T236M	47	2								NI
156	Thrombocytopenia	c.138 + 5G>A	p.?	54	2								NI
157	Thrombocytopenia	c.644 + 5G>C	p.?	47	2					RAD21 c.507_508del, p.E169fs	38	1	NI
										NRAS c.35G>A, p.G12D	20	1
										TP53 c.818G>A, p.R273H	31	1
										TP53 c.559 + 1G>A, p.?	42	1
158	Neutropenia	c.138 + 5G>A	p.?	50	2								NI
159	Anemia	c.751C>T	p.P251S	46	2								46,XX[20]
160	Anemia	c.1748C>T	p.A583V	47	2					PTPN11 c.227A>T, p.E76V	45	1	NI
161	MPN, PV	c.23G>A	p.R8Q	47	2					JAK2 c.1849G>T, p.V617F	45	1	46,XY[20]
162	MPN, PV	c.94G>A	p.D32N	48	2					JAK2 c.1849G>T, p.V617F	85	1	46,XY[20]
163	MPN, ET	c.398C>T	p.A133V	44	2					CALR c.1122_1125del, p.K374fs	44	1	NI
										U2AF1 c.470A>G, p.Q157R	45	1
										ZRSR2 c.236_237del, p.E79Afs	87	1
164	MPN	c.644T>C	p.I215T	48	2					JAK2 c.1849G>T, p.V617F	26	1	NI
										ASXL1 c.1934dup, p.G646fs	1	1
165	MPN	c.647T>C	p.L216P	48	2	c.1655T>G	p.L552R	14	2	JAK2 c.1849G>T, p.V617F	12	1	NI
										ASXL1 c.1900_1922del, p.E635fs	8	1
166	MPN, ET	c.707C>T	p.T236M	50	2					JAK2 c.1849G>T, p.V617F	18	1	46,XY[20]
										SF3B1 c.2110A>T, p.I704F	15	1
167	MPN	c.1471G>A	p.V491I	52	2					JAK2 c.1849G>T, p.V617F	47	1	46,XY[20]
										TP53 c.743G>A, p.R248Q	6	1
										TP53 c.742C>T, p.R248W	5	1
										NF1 c.2035del, p.I679fs	15	1
168	MPN, ET	c.1630G>T	p.V544L	49	2					JAK2 c.1849G>T, p.V617F	26	1	46,XY[20]
										SF3B1 c.1997A>C, p.K666T	16	1
169	MPN, ET	c.138 + 5G>T	p.?	49	2								NI
170	MPN, ET	c.465G>A	p.M155T	49	2								46,XX[20]
171	MPN	c.560A>G	p.K187R	46	2								NI
172	LPL with pancytopenia	c.490C>T	p.R164W	50	2					SF3B1 c.2098A>G, p.K700E	41	1	46,XY[20]
173	γ heavy chain disease	c.490C>T	p.R164W	49	2								46,XY[20]
	MYD88 negative LPL
174	CLL; breast cancer	c.490C>T	p.R164W	47	2								46,XY[20]
175	CLL	c.751C>T	p.P251S	50	2								46,XY, del(13)(q12;q22), add(18)(p11.20[4]/46,XY[16]
176	MM	c.29G>A	p.R10Q	46	2					TP53 c.376T>G, p.Y126D	24	1	44∼46,X, add(X)(p10), del(6)(q21q23), i(8)(q10),
										DNMT3A c.2339T>C, p.I780T	18	2	t(11;14)(q13;q32), del(13)(q12q22),- 14,-17,+1∼ 2mar[cp4]/46,XX[16]
										KDM6A c.1354_1355del, p.G452fs	26	1
177	AML					c.1574G>A	p.R525H	12	1	ASXL1 c.1774C>T, p.Q592*	4	1	46,XY,t(1;4)? (q21;q31)[2]/46,XY[6]
										PHF6 c.58del, p.C20fs	17	1
178	AML					c.1574G>A	p.R525H	25	1	ASXL1 c.2077C>T, p.R693*	2	1	46,XY[21]
179	AML					c.1574G>A	p.R525H	1	1	CBL c.1211G>A, p.C404Y	15	1	46,XX[20]
										U2AF2 c.766G>A, p.D256G	16	2
180	AML					c.1574G>A	p.R525H	4	1	SH2B3 c.519_523del, p.R175fs	3	1	45,X,-Y[5]/46,XY[15]
										PHF6 c.635G>T, p.C212F	8	2
181	AML					c.1574G>A	p.R525H	16	1	SRSF2 c.284C>A, p.P95H	17	1	46,X,del(X)?(q22q26)[2]/46,XX[18]
182	AML					c.1574G>A	p.R525H	9	1	SETBP1 c.2602G>C, p.D868H	2	1	NI
						c.944A>G	p.H315R	8	2	CUX1 c.439C>T, p.R147*	7	1
										STAG2 1693G>T, p.E565*	5	1
										EZH2 c.1967C>T, p.A656V	4	1
										ASXL1 c.2156del, p.E719fs	8	1
183	AML					c.1589G>A	p.G530D	15	1	ASXL1 c.2985del, p.H995fs	5	1	46,XY[20]
						c.629A>G	p.Q210R	15	2	ASXL1 c.2083C>T, p.R695*	3	1
										ASXL1 c.2077C>T, p.H963*	5	1
										EZH2 c.2213del, p.A738fs	15	1
										NF1 c.3774G>C, p.W1258C	12	1
184	AML; DLBCL					c.1589G>A	p.G530D	6	1				46,XY[20]
185	MDS					c.1574G>A	p.R525H	4	1	DNMT3A c.2645G>A, p.R882H	3	1	46,XX[11]
186	MDS					c.1574G>A	p.R525H	9	1				45,X,-Y[4]/46,XY[16]
187	MDS					c.1574G>A	p.R525H	10	1				46,XX[20]
188	MDS					c.1574G>A	p.R525H	1	1				46,XY[20]
189	MDS					c.1574G>A	p.R525H	4	1				46,XY[20]
190	AML					c.157C>G	p.R53G	5	2	SF3B1 c.2098A>G, p.K700E	32	1	NI
										PTPN11 c.214G>A, p.A72T	37	1
191	AML					c.1760_ 1761TT	p.G587V	4	2	DNMT3A c.2645G>A, p.R882H	7	1	46,XY[20]
										DNMT3A c.2095G>A, p.G699R	3	2
192	MDS					c.622C>G	p.Q208E	14	2	SETBP1 c.2608G>A, p.G870S	6	1	46,XY,del(7)(q22)[6]/46,XY[14]
										SETBP1 c.2602G>A, p.D868N	2	1
										DNMT3A c.2645G>A, p.R882H12	12	1
										EVT6 c.313C>G, p.R105G	2	2
										TET2 c.4079T>C, p.L1360P	1	2
193	MDS					c.1199G>T	p.R400L	3	2	ASXL1 c.2324T>G, p.L775*	20	1	46,XY, del(5)(q31q33) [13]/46,XX[7]
194	MDS					c.1369G>C	p.V457L	2	2	TP53 c.818G>A, p.R273H	30	1	46,XY, del(5)(q31q33) [14]/46,XX[6]
										TP53 c.578A>C, p.H193P	2	2
195	Neutropenia					c.1775T>A	p.I592N	4	2	SRSF2 c.284C>T, p.P95L	4	1	NI
										RUNX1 c.606dup, p.P203fs	2	1
										TET2 c.330G>C, p.Lys110N	3	2
196*	Normal	c.3G>A	p.M1I	53	1								46,XY[20]
197*	Normal	c.3G>A	p.M1I	50	1								46,XX[20]
198*	Normal	c.415_418dup	p.D140fs	46	1								Not done
199*	Normal	c.415_418dup	p.D140fs	45	1								NI
200*	Normal	c.415_418dup	p.D140fs	56	1								46,XY[20]
201*	Normal	c.992_994del	p.K331del	47	1								Not done
202	Normal∼(donor)	c.931C>T	p.311*	50	1								47,XX,+8[19]
203	Normal∼(donor)	c.465G>A	p.M155I	46	2								46,XY[20]
204	Normal∼(donor)	c.1693G>A	p.V565M	50	2								46,XY[20]
205	Normal∼(donor)	c.1585dup	p.T529fs	46	1								44,XY,inc[1]//46,XX[16]

AF, variant allele frequency by %; ET, essential thrombocythemia; gl, germline; NI, no information; PMF, primary myelofibrosis; s, somatic; Tier 1, CV; Tier 2, VUS.

Germline variants confirmed by skin biopsies.

†

Patients reported in a prior study.⁹

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