Table 1

Summary of WES analysis and identification of segregating novel predicted damaging/deleterious variants in a Dutch melanoma family

Gene	Change	Ch	Ref	Alt	Type*	SIFT	Polyphen	MAF†
GPATCH3	p.Gly131Arg	1	C	T	Missense	Deleterious	probably_ damaging	0.00006168
ATPIF1	p.Arg94His	1	G	A	Missense	Deleterious	probably_ damaging	0.00004406
KALRN	p.Ser1629Cys	3	C	G	Missense	Deleterious	probably_ damaging	0.00002641
NEK11	p.Arg374Ter	3	C	T	Stop-gained			0.00002641
ZNF192	p.Arg66Ter	6	C	T	Stop-gained			0.000008791
GPR111	p.Ser168Arg	6	T	A	Missense	Deleterious	probably_ damaging	0.00006486
GPAM	p.Pro403Thr	10	G	T	Missense	Deleterious	probably_ damaging	0.000008794
NELL1	p.Val755Met	11	G	A	Missense	Deleterious	probably_ damaging	0.0002261
KRT77	p.Asp316Asn	12	C	T	Missense	Deleterious	probably_ damaging	0.00001502
OAS2	p.Tyr269Cys	12	A	G	Missense	Deleterious	probably_ damaging	–
DNAJC3	p.Arg346Gln	13	G	A	Missense	Deleterious	probably_ damaging	0.0001553
TEP1	p.Arg1386Trp	14	G	A	Missense	Deleterious	possibly_ damaging	0.001266
PLCB2	p.Arg253Trp	15	G	A	Missense	Deleterious	probably_ damaging	0.001074
DNASE1	p.Ala168Val	16	C	T	Missense	Deleterious	possibly_ damaging	0.001402
BFAR	p.Phe53Ile	16	T	A	Missense	Deleterious	possibly_ damaging	–
ITGB4	p.Arg556Cys	17	C	T	Missense	Deleterious	possibly_ damaging	0.0006357
PSG7	p.Trp67Ser	19	C	G	Missense	Deleterious	probably_ damaging	0.0001473
GPR50	p.Gly93Ala	X	G	C	Missense	Deleterious	possibly_ damaging	0.00001240
GABRQ	p.Arg254Cys	X	C	T	Missense	Deleterious	probably_ damaging	0.00007713

*Variants characterised by ExAC/gnomAD/Genome of The Netherlands/Ensembl databases.
†MAF in European (Non-Finnish) population.
WES, whole-exome sequencing.