Table 2.

The 16 validated ASSVs located in gene-coding regions

Chroma	Starta	Enda	Length	Type	Gene	Exon	Consequence	Gene functionsb
chr1	11095424	11095738	316	INS	EXOSC10	4/5	Splice_acceptor_variant	Spermatogenesis
chr3	136986715	136988148	1435	INS	IL20RB	3/7	Splice_donor_variant	Neuroprotective and intelligence
chr3	139580804	139583878	3076	INS	NMNAT3	5/8	Splice_acceptor_variant	Neuroprotective; intelligence, and axonal protection
chr4	169663104	169663246	144	INS	CLCN3	2/14	Coding_sequence_variant	Schizophrenia, autism spectrum disorder; bone pattern, and synaptic transmission
chr12	109105086	109105279	195	INS	UNG	6/7	NMD_transcript_variant	Immunodeficiency; epididymitis, and somatic hypermutation
chr12	122264731	122264829	100	INS	VPS33A	2/14	NMD_transcript_variant	Lysosome function; foot abnormality and acetabular dysplasia
chr13	102742592	102742592	318	DEL	CCDC168	4/4	Inframe_deletion	<Unknown>
chr16	405554	405554	66	DEL	DECR2	3/10	NMD_transcript_variant	Fatty-acid degradation; hemoglobin concentration and body mass index
chr17	75909754	75909754	304	DEL	FBF1	29/29	NMD_transcript_variant	White matter hyperintensity; brain and eye measurements and cilium assembly
chr17	75909803	75909803	631	DEL	FBF1	29/29	NMD_transcript_variant	White matter hyperintensity; brain and eye measurements and cilium assembly
chr19	12318606	12318606	317	DEL	ZNF563	4/4	Frame_shift	Intelligence; schizophrenia and educational attainment
chr19	48874925	48874925	285	DEL	PPP1R15A	1/1	Inframe_deletion	White matter disease and Alzheimer’s disease
chr19	49004220	49004220	337	DEL	RUVBL2	4/15	NMD_transcript_variant	Chorionic gonadotropin level; follicle stimulating hormone level; cell cycle and mitotic
chr20	62965134	62965134	564	DEL	SLC17A9	9/13	Splice_region_variant	Porokeratosis; cutaneous photosensitivity; papule and pruritus
chr20	63533689	63533689	537	DEL	PTK6	4/8	Frame_shift	Dysgraphia; schizophrenia, autism spectrum disorder and hair shape
chr22	39964324	39964903	578	INS	Z82206.1	2/2	Coding_sequence_variant	< Unknown>

Chrom chromosome, INS insertion, DEL deletion, NMD nonsense-mediated decay

^aThe coordinates are based on human GRCh38

^bThe gene functions are collected from GeneCard database and literatures^{35,37–40,43–45}