Table 1.

Molecular analysis of patient 1: germline and somatic alterations identified by RNA sequencing and whole exome sequencing of blood and tumour (glioblastoma, percentage of tumour cells: 80%)

Gene name	Variant classification	HGVSc	HGVSp	Consequence	Constitutional DNA VAF (%)	Tumour DNA VAF (%)	Tumour RNA VAF (%)
PMS2	PV/SNV	NM_000088.4: c.695G>T	NP_000526.2: p.(Gly232Val)	Missense variant	55	50	68
NF1	PV/insertion	NM_000267.3: c.2033dup	NP_000258.1: p.(Ile679Aspfs*21)	Frameshift variant	20	47	0
PMS2	PV/SNV	NM_000535.7: c.2275+1G>A	.	Splice donor variant	45	29	0
TP53	PV/SNV	NM_000546.6: c.817C>T	NP_000537.3: p.(Arg273Cys)	Missense variant	.	48	77
FANCA	PV/SNV	NM_000135.4: c.3624C>T	NP_000126.2: p.(Ser1208=)	Splice region and synonymous variant	.	47	0
TGFBR2	PV/SNV	NM_003242.6: c.1336G>A	NP_001020018.1: p.(Asp446Asn)	Missense variant	.	46	15
SETD2	PV/insertion	NM_001349370.3: c.4087dup	NP_001336299.1: p.(Arg1363Lysfs*8)	Frameshift variant	.	45	22
SMO	PV/SNV	NM_005631.5: c.1965G>A	NP_005622.1: p.(Trp655*)	Nonsense	.	44	42
KDM6A	PV/SNV	NM_001291415.2: c.4207C>T	NP_001278344.1: p.(Arg1403*)	Nonsense	.	41	0
POLE	PV/SNV	NM_006231.4 c.857C>G	NP_006222.2: p.(Pro286Arg)	Missense variant	.	41	58
ATR	PV/SNV	NM_001184.4: c.7597C>T	NP_001175.2: p.(Arg2533*)	Nonsense	.	38	31
NF1	PV/SNV	NM_000267.3: c.532G>T	NP_000258.1: p.(Glu178*)	Nonsense	.	37	50
APC	PV/SNV	NM_000038.6: c.2626C>T	NP_000029.2: p.(Arg876*)	Nonsense	.	34	50
TP53	PV/SNV	NM_001126112.3: c.586C>T	NP_001119584.1: p.(Arg196*)	Nonsense	.	30	0
PPP2R1A	PV/SNV	NM_001363656.2: c.7C>T	NP_001350585.1: p.(Arg3Trp)	Missense variant	.	25	28
ARID1B	PV /SNV	NM_001346813.1: c.2455C>T	NP_001333742.1: p.(Gln819*)	Nonsense	.	14	16

PV, pathogenic variant; SVN, small nucleotide variant; VAF, variant allele frequency.