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> |
