Table 3 Genomic alterations of the tumors in the cohort.
Patient number | Gene symbol | Gene name | Transcript ID | Variant annotation (p.) | Variant annotation (c.DNA) | Pathogenic role | Allelic frequency |
|---|---|---|---|---|---|---|---|
1 | NA | NA | NA | NA | NA | ||
2 | STK11 | Serine/threonine kinase 11 | NM_000455.4 | p.? | c.921-1G>C | Pathogenic | 22.2% |
TSC1 | Tuberous sclerosis 1 | NM_000368.4 | p.Glu876Ter | c.2626G>T | Pathogenic | 15% | |
3 | MTOR | Mammalian target of rapamycin | NM_004958.4 | p.Leu2427Arg | c.7281G>A | Pathogenic | 29% |
4 | FGFR3 | Fibroblast growth factor receptor 3 | NM_001163213 | Amplification | Amplification | Pathogenic | 27.3% |
5 | NA | NA | NA | NA | |||
6 | NF2 | Neurofibromin 2 | NM_000268.4 | p.Glu427Ter | c.? | Pathogenic | 35.5% |
7 | PTEN | Phosphatase and tensin homolog | NM_000314.8 | Biallelic loss del(1p36.33) | Biallelic loss del(1p36.33) | Pathogenic | 99% |
TSC1 | Tuberous sclerosis 1 | NM_000368.4 | Allelic loss 9q34.13 | Allelic loss 9q34.13 | Pathogenic | 45% | |
8 | MET | MET receptor tyrosine kinase gene | NM_000245.4 | Amplification | Amplification | Pathogenic | 43% |
TSC1 | Tuberous sclerosis 1 | NM_000368.4 | p.Glu876Ter | c.2626G>T | Pathogenic | 11.9% | |
9 | TSC1 | Tuberous sclerosis 1 | NM_000368.4 | p.Glu876Ter | c.2626G>T | Pathogenic | 20% |
10 | PIK3CA | Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | NM_006218.4 | p.Glu545Lys | c.1633G>A | Pathogenic | 28.6% |
11 | STK11 | Serine/threonine kinase 11 | NM_000455.4 | p.? | c.921-1G>C | Pathogenic | 9.5% |
12 | TSC2 | Tuberous sclerosis 2 | NM_000548 | p.Val534Leu | c.1600G>T | Pathogenic | 31.7% |
13 | NA | NA | NA | NA | |||
14 | FOXP1 | Forkhead box P1 | NM_001349338.3 | p.Glu490Ter | c.1468G>T | Pathogenic | 17.5% |
