Table 1.

Variants identified in the buccal swab sample and sorted cell populations using whole-exome sequencing

Gene	Chromosome and GRCh37 position	HGVS DNA reference	HGVS protein reference	Variant type	In silico pathogenicity assessment (see Methods)	ClinVar status (if available)	dbSNP/dbVar ID	Buccal swab	Myeloid	Lymphoid
								Genotype	Variant allele frequency
NRAS	Chr 1:115258747	NM_002524:c.35G > A	p.G12D	Nonsynonymous SNV	VUSa	Pathogenic	rs121913237	-	0.47	0.39
CLOCK	Chr 4:56322165	NM_001267843:c.881C > T	p.P294L	Nonsynonymous SNV	Likely pathogenic	Not reported	rs1362924961	-	0.41	0.38
TET2	Chr 4:106158398_ 106158399	NM_001127208: c.3299_3300del2	p.V1100Afs*2	Frameshift deletion	Pathogenic	Not reported	None	-	1.00	1.00
BRD2	Chr 6:32943865_32943865	NM_001113182: c.529_530insTGA	p.V177_A178insI	Nonframeshift insertion	Unknown	Not reported	None	-	-	0.41
CDKN1A	Chr 6:36652068	NM_001291549:c.292G > A	p.A98T	Nonsynonymous SNV	VUS	Not reported	rs780909704	Heterozygous	0.47	0.47
EZH2	Chr 7: 148507467_148507468	NM_004456:c.1986_1987del2	p.Y663fsa0	Frameshift deletion	Pathogenic	Not reported	None	-	0.54	0.39
BMPR1A	Chr 10:88683261	NM_004329:c.1471G > A	p.E491K	Nonsynonymous SNV	VUS	VUS	rs1329735599	Heterozygous	0.39	0.64
FOXA2	Chr 20:22562771	NM_021784:c.1109T > G	p.L370R	Nonsynonymous SNV	Pathogenic	Not reported	None	Heterozygous	0.50	0.58
ASXL1	Chr 20: 31022922_31022922	NM_015338:c.2407delC	p.Q803Kfs*14	Frameshift deletion	Pathogenic	Not reported	None	-	0.41	-
CHEK2	Chr 22:29121082	NM_007194:c.475T > C	p.Y159H	Nonsynonymous SNV	Pathogenic	VUS	rs781254437	Heterozygous	0.40	0.38
ZRSR2	Chr X:15809088	NM_005089:c.73G > T	p.E25X	Stopgain	Pathogenic	Not reported	None	-	1.00	0.75

(SNV) Single-nucleotide variant, (VUS) variant of unknown significance.

^aAlthough this variant was classified as a VUS using the combination of in silico tools, it is a well-validated pathogenic variant in ClinVar and we considered it as such.