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

From: Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways

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.

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

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