Table 2.

Pathogenic and Likely Pathogenic Germline Variants Present in the Pediatric tMN Cohort.

Case	1° Diagnosis	2° Dx	Gene	RefSeq accession	Mutation type	Amino acid change	VAF	REVEL score	ACMG classification (criteria)
SJ016504	NHL	tAML	ARID2	NM_152641	nonsense	p.R1272X	0.53		LP (PVS1, PM2)
SJ016509	ALL	tMDS	CREBBP	NM_004380	missense	p.R1446C	0.35	0.952	LP (PS2, PM2, PP3)
SJ043618	ALL	tAML	ETV6	NM_001987	nonsense	p.R359X	0.56		P (PVS1, PS3, PM2, PP1)
SJ021960	ALL	tMDS	ETV6	NM_001987	frameshift	p.N386fs	0.30		P (PVS1, PS3, PM2)
SJ004031	ALL	tMDS	EZH2	NM_001203247	missense	p.R685H	0.43	0.907	LP (PM2, PP2, PP3)
SJ016496	ALL	tAML	NF1	NM_000267	nonsense	p.R2496X	0.50		P (PVS1, PM2, PP1)
SJ016519	ALL	tAML	PMS2	NM_000535	missense	p.S46I	0.34	0.939	LP (PS3, PP1, PM3, PP3)
SJ004031	ALL	tMDS	PTPN11	NM_002834	missense	p.S502L	0.39	0.976	LP (PM1, PM2, PP2, PP3)
SJ043615	ALL	tAML	RPL22	NM_000983	splice	E40_E3splice	0.44		LP (PVS1, PM2)
SJ016463	Osteosarcoma	tMDS	TP53	NM_000546	missense	p.R337C	0.58	0.715	P (PS3, PM1, PM2, PP2, PP3)
SJ001119	Osteosarcoma	tAML	TP53	NM_000546	missense	p.R337L	0.58	0.765	P (PS3, PM1, PM2, PM5, PP3)
SJ015852	ALL	tMDS	TP53	NM_000546	nonsense	p.W53X	0.52		P (PVS1, PM2, PP4)
SJ018205	Anaplastic Astrocytoma	tMDS	TP53	NM_000546	missense	p.H179Y	0.50	0.948	P (PS2, PS3, PM1, PM2, PP1, PP3)
SJ016486	ALL	tAML	TRIP11	NM_004239	frameshift	p.Q1367fs	0.40		LP (PVS1, PM2)