Table S4.

Candidate mutations

Chr	Position (bp)	Reference	Alternative	Gene name	Function (Ensembl)	Exonic function (Ensembl)	Effect (snpEff)	Impact (snpEff)
16	1855004	G	A	Y_RNA	Downstream	—	Intergenic	Modifier
X	41819512	G	A	WDR13	Splicing	—	Downstream	Modifier
16	2006387	G	A	CUL1	Splicing	—	Intron	Modifier
3	85098858	C	CTTTAAATGTAACATTTTGTTTTTTTGTTTTTTTTTTTT	SEPSECS	Intronic	—	Intron	Modifier
20	56474664	GGACAGAC	GGAC	DIRAS1	Exonic	Frameshift deletion	Frameshift	High
2	77117099	C	T	WNT4	Exonic	Synonymous SNV	Synonymous coding	Low
X	57124177	C	T	CDX4	Exonic	Synonymous SNV	Synonymous coding	Low
X	60408672	G	T	TAF9B	Exonic	Synonymous SNV	Synonymous coding	Low
16	2023357	G	A	CUL1	Exonic	Synonymous SNV	Synonymous coding	Low
X	55708156	C	T	ENSCAFG00000017103_11	Exonic	Synonymous SNV	Synonymous coding	Low

A summary of 10 case-specific variants identified in the whole exome sequencing analysis after filtering against 169 control exomes.