Table 1. Summary of confirmed de novo SNVs from exome sequencing in 17 OCD parent trios.

Individual	Chr	Position (hg19)	Gene	Expression		Reference allele	Variant allele	Variant effect	Amino acid substitution	RVIS (%ile)	ExAC frequency	Detection pipeline
				Brain	Synaptic
OCD016301	15	75891017	SNUPN	Yes	No	A	C	Missense	D255E	0.6 (82.66%)	NA	Both
OCD018901	3	10380029	ATP2B2	Yes	Yes	A	G	Missense	I1084T	−1.94 (1.89%)	NA	Both
OCD018901	3	180703745	DNAJC19	Yes	Yes	T	C	Silent	R83R	−0.08 (47.79%)	NA	SAMtools
OCD032201	2	219647088	CYP27A1	Yes	No	A	T	Silent	P61P	−0.31 (32.23%)	NA	SAMtools
OCD032201	8	87423972	WWP1	Yes	Yes	A	G	Missense	I310M	−0.69 (15.12%)	8.2 × 10−6	Both
OCD032201	10	50678378	ERCC6	Yes	No	T	A	Nonsense	K1210X	1.49 (95.32%)	NA	Both
OCD032201	11	62400166	GANAB	Yes	No	C	T	Silent	L311L	−0.66 (16.02%)	NA	SAMtools
OCD129101	2	219894325	CCDC108	Yes	No	C	T	Missense	E484K	−1.85 (2.04%)	8.2 × 10−6	Both
OCD129101	4	102993556	BANK1	Yes	No	A	T	Missense	K633M	0.45 (78%)	NA	Both
OCD129101	5	16783451	MYO10	Yes	No	C	T	Missense	E199K	−1.61 (2.97%)	NA	Both
OCD139801	1	89655829	GBP4	Yes	No	C	A	Silent	T363T	1.76 (96.73%)	NA	SAMtools
OCD139801	1	177226291	FAM5B	Yes	No	C	G	Missense	NA	−1.15 (6.27%)	NA	Both
OCD139801	1	207755290	CR1	No	No	T	A	Missense	S1748R	NA	NA	Both
OCD139801	2	223423326	SGPP2	Yes	No	C	T	Silent	P303P	−0.6 (17.91%)	1.7 × 10−5	SAMtools
OCD144601	2	220402768	ACCN4	Yes	No	G	A	Silent	X667X	0.4 (76.45%)	1.1 × 10−5	SAMtools
OCD144601	X	8138284	VCX2	Yes	No	G	C	Missense	A70G	NA	0.793	Both
OCD175901	16	11016048	CIITA	Yes	No	C	T	Silent	D1058D	−0.89 (10.19%)	4.1 × 10−5	SAMtools
OCD175901	16	71807129	AP1G1	Yes	Yes	T	C	Missense	K155E	−0.76 (13.45%)	NA	Both
OCD181401	10	28971325	BAMBI	Yes	No	G	A	Missense	V260I	−0.12 (45.13%)	8.24 × 10−6	Both
OCD176501	16	15790756	NDE1	Yes	No	A	C	Missense	A986C	−0.82 (11.77%)	0.0003	GATK
OCD018901	18	48584826	SMAD4	Yes	No	T	C	Missense	W302R	−0.32 (31.69%)	NA	GATK
OCD020001	11	1270892	MUC5B	Yes	No	C	A	Missense	A4261E	16.52 (99.98%)	0.001	GATK
OCD003301	X	11206984	ARHGAP6	Yes	No	G	A	Missense	S134F	−0.56 (19.73%)	0.008	GATK
OCD043301	14	21870199	CHD8	Yes	No	C	T	Missense	E1327K	−2.34 (1.18%)	NA	GATK
OCD048501	4	146033407	ABCE1	Yes	No	C	G	Missense	P243A	−0.25 (35.42%)	0.003	GATK
OCD048501	8	11188956	SLC35G5	Yes	Yes	G	A	Missense	S114N	1.36 (94.44%)	8.2 × 10−6	GATK
OCD048501	11	18266989	SAA2	Yes	No	T	C	Missense	K102E	0.73 (85.98%)	9.9 × 10−5	GATK

Abbreviations: Chr, chromosome; ExAC Frequency, overall variant frequencies in version 0.3 of the Exome Aggregation Consortium data set; NA, not present in data set; OCD, obsessive-compulsive disorder; RVIS, Residual Variation Intolerance Score, release 9 (http://genetic-intolerance.org, accessed December 1, 2015); SNV, single-nucleotide variant.