Table 1.
Sample | Chr | Pos | Ref | Alt | Quality | Total depth | Effect | Codon | Gene symbol |
---|---|---|---|---|---|---|---|---|---|
CJ1 | ------------------------------------------------------------------------------ Not found ---------------------------------------------------------------------------------- | ||||||||
CB1 | 6 | 81281307 | G | GT | 2,736.0 | 183 | Intron variant | c.820-502_820-501insT | SDC3 |
CB3 | 1 | 109000000 | C | CA | 1,282.4 | 229 | Intron variant | c.16+1468_16+1469insT | ACAA2 |
CB3 | 1 | 56505569 | AT | A | 2,632.1 | 212 | Intron variant | c.2398-1185delT | COL19A1 |
CB3 | 1 | 101000000 | CA | C | 1,316.4 | 185 | Intron variant | c.151-2454delT | SENP6 |
CB3 | 1 | 106000000 | ATT | A | 1,997.0 | 186 | Upstream gene variant | c.-160_-160delAA | ENSSSCG00000021219 |
CB3 | 2 | 67265991 | AT | A | 3,801.1 | 236 | 3′UTR variant | c.*243delT | ENSSSCG00000013715 |
CB3 | 4 | 67994103 | TTG | T | 1,837.9 | 214 | Intron variant | c.814+7317_814+7318delTG | STAU2 |
CB3 | 5 | 9089370 | C | CT | 2,230.0 | 216 | Intron variant | c.3101-81_3101-80insA | MYH9 |
CB3 | 6 | 81281307 | G | GT | 2,736.0 | 183 | Intron variant | c.820-502_820-501insT | SDC3 |
CB3 | 8 | 32890209 | C | CT | 1,085.9 | 213 | Intron variant | c.406+1180_406+1181insT | N4BP2 |
CB3 | 8 | 39555553 | T | TTA | 4,723.5 | 227 | Intron variant | c.2411+1756_2411+1757insTA | CORIN |
CB3 | 8 | 39652185 | GAGA | G | 1,633.5 | 200 | Intron variant | c.1012+13959_1012+13961delTCT | CORIN |
CB3 | 8 | 138000000 | AT | A | 2,739.7 | 169 | Intron variant | c.1510-27278delA | ENSSSCG00000022986 |
CB3 | 8 | 138000000 | A | ATG | 4,606.9 | 212 | Intron variant | c.1509+897_1509+898insCA | ENSSSCG00000022986 |
CB3 | 9 | 100000000 | T | TGG | 1,325.4 | 223 | Intron variant | c.11403+301_11403+302insGG | DNAH11 |
CB3 | 9 | 100000000 | CTG | C | 2,495.5 | 210 | Intron variant | c.6902+405_6902+406delTG | DNAH11 |
CB3 | 12 | 39592974 | T | TC | 1,977.2 | 262 | Upstream gene variant | c.-87_-87insG | ZNHIT3 |
CB3 | 13 | 403773 | C | CA | 3,243.7 | 202 | Intron variant | c.180+44121_180+44122insA | ENSSSCG00000023343 |
CB3 | 14 | 62454044 | GT | G | 2,509.5 | 237 | Intron variant | c.3350+733delA | SIPA1L2 |
CB3 | 14 | 135000000 | T | TA | 1,830.7 | 235 | Intron variant | c.93+37916_93+37917insA | TCF7L2 |
CB3 | 18 | 40749240 | G | GA | 1,047.3 | 198 | Intron variant | c.-141+11760_-141+11761insA | ELMO1 |
GGTA1, α-1,3-galactosyltransferase; SDC3, syndecan-3; ACAA2, acetyl-CoA Acyltransferase 2; COL19A1, collagen type XIX alpha 1 chain; SENP6, SUMO-specific peptidase 6; STAU2, Staufen double-stranded RNA-binding protein 2; MYH9, myosin heavy chain 9; N4BP2, NEDD4-binding protein 2; CORIN, corin, serine peptidase; DNAH11, dynein axonemal heavy chain 11; ZNHIT3, zinc finger HIT-type containing 3; SIPA1L2, signal-induced proliferation-associated 1-like 2; TCF7L2, transcription factor 7-like 2; ELMO1, engulfment and cell motility 1.