Table 2.

Shared Nonsense and Splice Site SNVs

Chr	Position	rsID	Gene	DNA Change	AA Change	Families
1	85,546,961	-	WDR63	G/T	GLU>stop	6
	148,932,885	rs1048214	LOC645166	C/T	GLN>stop	5
	152,277,622	-	FLG	G/T	SER>stop	9
2	166,904,221	-	SCN1A	G/T	TYR>stop	16
3	40,231,748	-	MYRIP	A/T	LYS>stop	15
	75,787,516	-	ZNF717	C/G	Splice Site	4
4	77,660,829	rs73826426	SHROOM3	C/A	TYR>stop	8, 10
6	49,425,475	-	MUT	G/A	ARG>stop	6
	121,560,230	-	C6orf170	G/A	ARG>stop	2
	168,226,602	-	C6orf124	C/T	TRP>stop	7
7	76,751,068	rs71555938	CCDC146	G/C	TYR>stop	16
10	123,846,924	-	TACC2	C/T	GLN>stop	4
	135,490,903	rs36130162	DUX1	C/T	ARG>stop	16
11	1,857,515	-	SYT8	G/A	Splice Site	14
12	4,870,307	rs61758971	GALNT8	C/T	GLN>stop	14
	109,690,964	-	ACACB	G/A	Splice Site	14
13	24,243,246	-	TNFRSF19	C/T	ARG>stop	12
14	21,779,981	-	RPGRIP1	A/G	Splice Site	16
	58,832,019	rs62621193	ARID4A	G/A	Splice Site	14
15	75,562,499	-	GOLGA6C	C/T	GLN>stop	14
	78,807,407	-	AGPHD1	T/A	TYR>stop	14
16	24,873,990	-	SLC5A11	G/A	TRP>stop	2
	84,495,318	rs4782970	ATP2C2	A/C	Splice Site	15
17	45,234,277	-	CDC27	A/C	Splice Site	13, 14
18	14,513,786	rs8095431	POTEC	T/C	Splice Site	4
19	11,943,225	-	ZNF440	C/T	ARG>stop	12
	40,195,184	-	LGALS14	G/A	Splice Site	16
	43,699,204	-	PSG4	C/A	GLU>stop	4
	56,459,551	-	NLRP8	C/T	ARG>stop	6
20	2,597,716	-	TMC2	A/T	Splice Site	1, 9
	30,226,904	-	COX4I2	T/G	Splice Site	14
22	44,287,073	-	PNPLA5	G/A	GLN>stop	2
X	2,832,668	-	ARSD	A/G	Stop>GLN	9, 15
	55,185,663	-	FAM104B	T/G	Splice Site	15
	103,294,760	rs2301384	H2BFM	C/T	GLN>stop	11, 13, 14