Table 2.
DICER1, BUB1B, APC, DCC, KRAS, NF1, ALK, PAX3, PIK3AP1, PIK3C2G, PIK3CA, PIK3CB, PIK3CD, PIK3IP1, PIK3R1, PIK3R2, PIK3R3, PIK3R5, PIK3R6, and TP53 mutations
| Gene | Germline | Somatic | Variant | HGVS DNA reference | HGVS protein reference | Genotype | Variant allele fractions |
|---|---|---|---|---|---|---|---|
| DICER1 | X | Stop gained | c.2782C > T | p.Gln928* | Het | 2.7% of 187 reads | |
| DICER1 | X | Missense variant | c.2018C > T | p.Ser673Leu | Het | 2.8% of 143 reads | |
| DICER1 | X | Frameshift variant | c.1111_1112insTAATAA TAGAAATCAGGAT | p.Lys371fs | Het | 6.9% of 102 reads | |
| BUB1B | X | Stop gained | c.508A > T | p.Lys170* | Het | 3.6% of 194 reads | |
| BUB1B | X | Stop gained | c.550A > T | p.Lys184* | Het | 3.6% of 194 reads | |
| BUB1B | X | Missense variant | c.1733G > T | p.Cys578Phe | Het | 3.7% of 107 reads | |
| BUB1B | X | Missense variant | c.1775G > T | p.Cys592Phe | Het | 3.7% of 107 reads | |
| BUB1B | X | X | Missense variant | c.1046G > A | p.Arg349Gln | Het | 46% of 609 reads |
| BUB1B | X | X | Missense variant | c.1088G > A | p.Arg363Gln | Het | 46% of 609 reads |
| BUB1B | X | X | Missense variant | c.1649G > A | p.Arg550Gln | Het | 50% of 664 reads |
| BUB1B | X | X | Missense variant | c.1691G > A | p.Arg564Gln | Het | 50% of 664 reads |
| APC | X | X | Missense variant | c.5465T > A | p.Val1822Asp | Het | 100% of 305 reads |
| DCC | X | Frameshift variant | c.1735_1736delCC | p.Pro579fs | Het | 4.8% of 83 reads | |
| DCC | X | Frameshift variant | c.1867_1868delCC | p.Pro623fs | Het | 4.8% of 83 reads | |
| DCC | X | Frameshift variant | c.1936_1937delCCb | p.Pro646fs | Het | 4.8% of 83 reads | |
| DCC | X | Frameshift variant | c.901_902delCC | p.Pro301fs | Het | 4.8% of 83 reads | |
| DCC | X | X | Missense variant | c.67T > C | p.Phe23Leu | Het | 100% of 2,079 reads |
| KRAS | X | Splice acceptor variant & intron variant | c.-11-2A > T | None | Het | 5.6% of 89 reads | |
| NF1 | X | Missense variant | c.419G > A | p.Gly140Glu | Het | 3% of 230 reads | |
| NF1 | X | Missense variant | c.218G > A | p.Gly73Glu | Het | 3% of 230 reads | |
| NF1 | X | Missense variant | c.299G > A | p.Gly100Glu | Het | 3% of 230 reads | |
| ALK | X | X | Stop gained | c.218G > A | p.Trp73* | Het | 100% of 345 reads |
| PAX3 | X | Missense variant | c.332C > T | p.Thr111Met | Het | 3% of 97 reads | |
| PIK3AP1 | X | Sequence feature | c.1376-4555C > T | None | Het | 11% of 36 reads | |
| PIK3AP1 | X | X | Missense variant | c.1913A > G | p.Lys638Arg | Het | 23% of 66 reads (TU) |
| PIK3AP1 | X | X | Missense variant | c.710A > G | p.Lys237Arg | Het | 23% of 66 reads |
| PIK3AP1 | X | X | Missense variant | c.1379A > G | p.Lys460Arg | Het | 23% of 66 reads |
| PIK3C2G | X | Missense variant | c.1952C > A | p.Pro651Gln | Het | 4% of 123 reads | |
| PIK3C2G | X | Missense variant | c.1829C > A | p.Pro610Gln | Het | 4% of 123 reads | |
| PIK3C2G | X | X | Conservative in-frame deletion | c.385_387delCCC | p.Pro129del | Het | 37% of 505 reads |
| PIK3C2G | X | X | Missense variant | c.437C > T | p.Pro146Leu | Het | 37% of 453 reads |
| PIK3CA | X | Stop gained | c.418C > T | p.Arg140* | Het | 1.9% of 208 reads | |
| PIK3CA | X | Structural interaction variant | c.418C > T | None | Het | 1.9% of 208 reads | |
| PIK3CA | X | X | Structural interaction variant | c.3075C > T | None | Het | 43% of 639 reads |
| PIK3CB | X | Missense variant | c.1836C > A | p.Phe612Leu | Het | 4.9% of 103 reads | |
| PIK3CB | X | Missense variant | c.432C > A | p.Phe144Leu | Het | 4.9% of 103 reads | |
| PIK3CB | X | Missense variant | c.729C > A | p.Phe243Leu | Het | 4.9% of 103 reads | |
| PIK3CB | X | Missense variant | c.174C > A | p.Phe58Leu | Het | 4.9% of 103 reads | |
| PIK3CD | X | Stop gained | c.2492C > A | p.Ser831* | Het | 3.0% of 203 reads | |
| PIK3CD | X | Stop gained | c.2564C > A | p.Ser855* | Het | 3.0% of 203 reads | |
| PIK3CD | X | Missense variant | c.2604G > A | p.Met868Ile | Het | 3.0% of 198 reads | |
| PIK3CD | X | Missense variant | c.2532G > A | p.Met844Ile | Het | 3.0% of 198 reads | |
| PIK3CD | X | Missense variant | c.2604G > A | p.Met868Ile | Het | 3.0% of 198 reads | |
| PIK3IP1 | X | Missense variant | c.752C > G | p.Thr251Ser | Het | ||
| PIK3R1 | X | Missense variant | c.218C > T | p.Ser73Phe | Het | 2.5% of 198 reads | |
| PIK3R1 | X | Missense | c.512C > T | p.Ser171Phe | Het | 2.5% of 198 reads | |
| PIK3R1 | X | X | Structural interaction variant | c.219C > T | None | Het | 53% of 618 reads |
| PIK3R1 | X | X | Protein–protein contact | c.1176C > T | None | Het | 50% of 576 reads |
| PIK3R2 | X | Missense variant | c.700A > C | p.Ser234Arg | Het | 100% of 39 reads | |
| PIK3R2 | X | X | Missense variant | c.937T > C | p.Ser313Pro | Het | 100% of 58 reads |
| PIK3R3 | X | Missense variant | c.743G > A | p.Gly248Glu | Het | 4.1% of 147 reads | |
| PIK3R3 | X | Missense variant | c.121_122delCCinsTT | p.Pro41Leu | Het | 3.3% of 120 reads | |
| PIK3R3 | X | X | Missense variant | c.1031A > G | p.Asn344Ser | Het | 50% of 125 reads |
| PIK3R3 | X | X | Missense variant | c.854A > G | p.Asn285Ser | Het | 50% of 125 reads |
| PIK3R3 | X | X | Missense variant | c.849T > A | p.Asn283Lys | Het | 54% of 107 reads |
| PIK3R5 | X | Frameshift variant | c.222_225delCTAC | p.Tyr75fs | Het | 5.0% of 59 reads | |
| PIK3C2G | X | X | Conservative in-frame deletion | c.385_387delCCC | p.Pro129del | Het | |
| PIK3R5 | X | Missense variant | c.221C > G | p.Thr74Ser | Het | 5.3% of 57 reads | |
| PIK3R6 | X | X | Missense | c.1870G > A | p.Asp624Asn | Het | 35% of 201 reads |
| PIK3R6 | X | X | Missense | c.785C > T | p.Ala262Val | Het | 43% of 92 reads |
| TP53 | X | X | Missense variant | c.91G > A | p.Val31Ile | Het | 47% of 574 reads |