Table 1.

MBD4 germline deleterious variants in UM and in other malignancies^a

Patient series	Patient	Variant	dbSNP	Mutation type	Glycosylase assay	GnomAD allele frequency (NFEb)
						Allele count	Obs. allele number	Frequency
UMe germline consecutive series	UM75	p.Trp569*	rs939751619c	stop_gain	Inactived	2	129 130	1.55 × 10−5
	UM1033
	UM49	p.Asp521Profs*4	rs778697654c	splice_acceptor	ND	5	113 766	4.39 × 10−5
	UM1088
	UM656	p.Leu482Trpfs*9	rs769076971c	frameshift_deletion	ND	3	113 752	2.64 × 10−5
	UM293	p.Arg468Trp	rs1380952147	nonsynonymous_SNV	Inactived	0	113 630	0.00
	UM605	p.Ala462Leufs*29	–	frameshift_deletion	ND	—	—	—
	UM436	p.Arg83Profs*5	rs552296498c	splice_donor	ND	3	129 158	2.32 × 10−5
UM M3 tumor series	UMT45	p.Asp521Profs*4	rs778697654c	splice_acceptor	ND	5	113 766	4.39 × 10−5
	UMT61	p.Lys335Phefs*18	rs1443006605	frameshift_deletion	ND	0	113 650	0,00
	UMT162	p.Arg181*	rs1270271346	stop_gain	ND	2	128 972	1.55 × 10−5
UM (public data)	UM (9)	p.Leu563*	rs200758755	stop_gain	ND	8	113 702	7.04 × 10−5
	TCGA_UVM_1 (8)	p.Asp521Profs*4	rs778697654c	splice_acceptor	ND	5	113 766	4.39 × 10−5
	UMphs001421.v1.p1 (16)	p.Leu482Trpfs*9	rs769076971c	frameshift_deletion	ND	5	113 752	4.40 × 10−5
	UVM_IC (8)
	UMphs000823.v1.p1	p.Asp341Thrfs*13	–	frameshift_deletion	ND	—	—	—
Other malignancies	AMLEMC-AML-1 (13)	p.His567del	rs775848563	inframe_deletion	ND	—	—	—
	AMLWEHI-AML-1/2 (13)	p.Asp521Profs*4	rs778697654c	splice_acceptor	ND	5	113 766	4.39 × 10−5
	AMLWEHI-AML-1/2 (13)	p.Glu314Argfs*13	rs558765093c	frameshift_insertion	ND	—	—	—
	Spiradenocarcinoma (19)
	TCGA_GBM_4 (8)	p.Arg83Profs*5	rs552296498c	splice_donor	ND	3	129 158	2.32 × 10−5
	Colorectal polyposis (20)	p.Gln73*	rs148098584	stop_gain	ND	0	113 750	0.00
	Pilocytic astrocytoma (21)	NAg	NA	NA	ND	NA	NA	NA
	Gastric adenocarcinoma (21)	NA	NA	NA	ND	NA	NA	NA
	Pancreatic adenoK (21)	NA	NA	NA	ND	NA	NA	NA
	Pancreatic endocrine tumor ( 21)	NA	NA	NA	ND	NA	NA	NA

^aadenoK = adenocarcinoma; AML = acute myeloid leukemia; GBM = glioblastoma; M3 = monosomy 3; NA = not available; ND = not determined; NFE = non-Finnish European; UM or UVM = uveal melanoma; — = no value given because of the absence of the variant in dbSNP and/or in the GnomAD NFE population.

^bNFE population of the Genome Aggregation Database (GnomAD v2.1.1).

^cVariant found in more than 1 nonrelated patient.

^dInactive: absence of glycosylase activity of the recombinant protein carrying the variant.