Table 1.

Summary of CSF3R cytoplasmic mutations in hematologic malignances

Disease group	Specimen	ID	subgroup	Cytoplasmic mutation		Membrane proximal mutation		Truncation/missense mutation
				change	VAF	change	VAF
CNL/aCML/CMML/MPN-U (16/212)	1	08-00423	CNL	S783fs	40%	T615A T640N	12% 31%	Same allele NA
	2	09-00497	aCML^	S783fs	9%	T615A	7%	NA
	3	10-00694	CNL	D771fs	NA	T618I	40.4%	Same allele
	4	12-00121	CMML	W791X	12%	T618I	0.41	NA
	5	13-00068	CMML	Q749X	24%	ND	ND	ND
	6	13-00369	aCML^	S783fs	13%	ND	ND	ND
	7	13-00437	aCML	Y752X	35%	T615A	0.45	NA
	8	13-00440	aCML^	W791X	57%	T618I	0.87	NA
	9	13-00502	CMML	Q754X	52%	T618I	53%	NA
	10	14-00201	MPN-U^	S783fs	37%	T618I	37%	Same allele
	11	13-00649*	CNL^	Q754X	NA	T618I	NA	Same allele
	12	15-00430*	aCML^	L780fs	38%	T618I	18%	Same allele
	13	15-00467*	CNL^	W791X	56%	T618I	42%	Same allele
	14	13-00472*	MPN-U^	YE787-788X	27%	T618I	53%	NA
	15	15-00257*	CNL^	W791X	54%	T618I	52%	Same allele
	16	16-00105	CNL^	Q774X	12%	T618I	47%	NA
			FAB group			Other potential pathogenic mutations~		Karyotype
AML (5/378)	17	13-00625	M1	Q749X	28%	BCORL1, CTCF, EZH2, NRAS		45,XY,-7[6]; 47,XY,+13[5]; 46,XY[12]
	18	14-00608	M2	W791X	55%	BCOR, CSF3R		46,XX
	19	14-00643	M2	Q823H	6%	EZH2, KIT		45,X,-Y, t(8;21)(q22;q22)[20]
	20	15-00572	M2	Q752X	16%	ASXL1, IDH2, PHF6, RUNX1, SMC1A, U2AF1		46,XY[20]
	21	07-00008	NA	Q741X	NA	NA		NA

^*represent that CSF3R mutations were also identified in RNA-seq analysis.

^{^}represent unverified diagnosis due to the challenge of distinguishing CNL, aCML, and MPN-U.

^~represent that detailed mutation information is provided in supplementary table 1.

NA: not available. NT: not detected. [n] represent observed total cell number.