Summary of repeated or oncogenic overlapping mutations across patients with SS
| Hugo symbol . | Patient 1 . | Patient 2 . | Patient 3 . | Patient 4 . |
|---|---|---|---|---|
| MAP6 | c.C1739T | c.C408A | ||
| PKD2 | c.C2384T | c.C2395T | ||
| UNC80∗ | c.C5415T | c.T7519A | ||
| TP53∗ | + | c.262delT | c.G42A | |
| GLI2 | + | c.C1506T | ||
| SCN2A | + | c.G1492A | ||
| TNK2∗ | + | + | ||
| FBN1 | + | + | ||
| CATSPERE | + | + | ||
| JPH3 | + | + | ||
| WDFY4 | + | + | ||
| RP1 | + | + | ||
| LAMA1 | + | + | ||
| CADPS | + | + | ||
| ARID1A∗ | c.C6382T | |||
| ARID1A∗ | c.C6381T | |||
| ARID1B∗ | c.C2722T |
| Hugo symbol . | Patient 1 . | Patient 2 . | Patient 3 . | Patient 4 . |
|---|---|---|---|---|
| MAP6 | c.C1739T | c.C408A | ||
| PKD2 | c.C2384T | c.C2395T | ||
| UNC80∗ | c.C5415T | c.T7519A | ||
| TP53∗ | + | c.262delT | c.G42A | |
| GLI2 | + | c.C1506T | ||
| SCN2A | + | c.G1492A | ||
| TNK2∗ | + | + | ||
| FBN1 | + | + | ||
| CATSPERE | + | + | ||
| JPH3 | + | + | ||
| WDFY4 | + | + | ||
| RP1 | + | + | ||
| LAMA1 | + | + | ||
| CADPS | + | + | ||
| ARID1A∗ | c.C6382T | |||
| ARID1A∗ | c.C6381T | |||
| ARID1B∗ | c.C2722T |
Whole-exome sequencing was performed on samples as previously described. Mutations which occurred in genes more than once across patient samples are shown or in oncogenes. +Intronic region.
Previously described oncogenes.