Table 5. Annotations for nonsynonymous RVs in PKP2, SLC2A13, and NELL2.

					MAF
Gene	Variant	Positiona	Minor/Major Allele	Discovery Families with Variant	Discovery Families	Replication Families	NOMAS	Function	CADD Score	GERP Score	Amino Acids	PolyPhenb
PKP2	rs200069860	3,3030,850	A/T	F3561	0.008	–	–	Missense	18.04	5.37	GLY/CYS	Probably-damaging
PKP2	rs151264959	32,949,047	T/C	F2783	0.003	0.007	7.6 × 10−4	Missense	17.76	5.06	ASP/ASN	Probably-damaging
PKP2	rs146882581	32,994,073	A/G	F5103	0.003	0.007	0.008	Missense	3.33	2.01	THR/MET	Benign
PKP2	rs62001016	33,031,023	A/G	F5103, F5275	0.02	0.01	0.01	Missense	1.72	3.84	ALA/VAL	Benign
PKP2	rs75909145	33,049,457	A/C	F3561, F5275	0.03	–	–	Missense	14.02	3.17	SER/ILE	Benign
PKP2	rs143004808	33,049,590	T/C	F3719	0.008	–	0.005	Missense	33.00	4.07	ASP/ASN	Probably-damaging
PKP2	rs112592855	32,949,140	C/T	–	–	0.003	0.002	Missense	12.39	5.06	THR/ALA	Benign
PKP2	rs140852019	32,974,348	C/T	–	–	–	7.6 × 10−4	Missense	12.98	2.55	ASN/SER	Benign
PKP2	rs139159464	32,996,248	T/C	–	–	–	7.6 × 10−4	Splice site	6.18	1.10	–	Unknown
PKP2	rs201803918	33,030,840	A/G	–	–	–	7.6 × 10−4	Missense	11.25	5.37	ALA/VAL	Benign
PKP2	rs149542398	33,031,888	T/C	–	–	–	7.6 × 10−4	Missense	15.64	0.71	ARG/HIS	Benign
PKP2	12_32975421	32,975,421	A/G	–	–	–	0.01	Nonsense	39.00	4.16	ARG/Stop	Unknown
PKP2	12_33021968	33,021,968	A/G	–	–	–	0.005	Nonsense	38.00	2.05	ARG/Stop	Unknown
PKP2	rs146102241	32,977,026	T/C	–	–	0.007	–	Missense	23.60	5.32	VAL/ILE	Probably-damaging
PKP2	rs139734328	32,949,101	T/G	–	–	0.007	–	Missense	17.80	5.06	ARG/SER	Benign
SLC2A13	rs139518863	40,499,594	T/C	F3719	0.005	0.020	0.01	Missense	19.66	4.00	SER/ASN	Possibly-damaging
SLC2A13	rs186341127	40,499,132	A/G	F5103	0.008	0.010	0.01	Missense	7.55	1.54	ALA/VAL	Benign
SLC2A13	rs146020551	40,265,659	G/A	–	–	0.02	0.002	Missense	12.44	4.57	VAL/ALA	Benign
NELL2	rs367712742	44,902,736	C/T	F5103	0.01	–	–	Missense	11.99	5.25	GLN/ARG	Possibly-damaging
NELL2	12_45059356	45,059,356	T/C	F6081	0.003	–	–	Missense	9.88	4.38	ARG/HIS	Probably-damaging
NELL2	rs144730385	45,105,152	T/C	F3719	0.01	–	0.002	Missense	6.04	1.40	SER/ASN	Benign
NELL2	rs17574839	45,108,480	C/T	F5103, F5275	0.03	–	–	Missense	9.57	4.62	ASN/ASP	Benign
NELL2	rs201652982	45,171,085	T/C	F6081	0.003	–	–	Missense	32.00	5.62	ASP/ASN	Probably-damaging
NELL2	rs372522341	45,269,034	C/T	F6081	0.006	–	–	Missense	16.52	5.14	ASN/SER	Possibly-damaging
NELL2	rs2658973	45,269,640	T/C	F2235, F6081	0.008	0.05	0.02	Missense	13.58	3.08	VAL/ILE	Benign
NELL2	rs138454729	45,059,310	C/G	–	–	0.003	0.0008	Missense	18.80	4.39	ILE/MET	Possibly-damaging
NELL2	12_44926372	44,926,372	A/G	–	–	–	0.0008	Missense	27.50	5.72	SER/LEU	Probably-damaging
NELL2	rs146936717	44,915,791	T/G	–	–	–	0.002	Missense	17.79	4.71	ARG/SER	Probably-damaging

^aPosition based on hg19.

^bPPH HumanDiv.