Gene | AA change | CDS change | GENIE count | COSMIC count | Cancer types |
---|---|---|---|---|---|
MET | p.A179T | c.535G > A | 19 | 1 | Non-Small Cell Lung Cancer(13);Melanoma(2);Colorectal Cancer(4) |
ERBB3 | p.E928G | c.2783A > G | 14 | 2 | Melanoma(1);Colorectal Cancer(2);Bladder Cancer(2);Hepatobiliary Cancer(1);Small Bowel Cancer(1);Breast Cancer(6);Esophagogastric Cancer(1) |
CDKN2A | p.P75S | c.223C > T | 13 | 1 | Prostate Cancer(1);Colorectal Cancer(2);Ovarian Cancer(5);Non-Small Cell Lung Cancer(1);Endometrial Cancer(2);Breast Cancer(1);Cervical Cancer(1) |
SMO | p.L23dup | c.67_69dupCTG | 11 | 2 | Thyroid Cancer(1);Melanoma(1);Glioma(2);Leukemia(2);Non-Small Cell Lung Cancer(2);Cancer of Unknown Primary(1);Endometrial Cancer(1);Breast Cancer(1) |
SMARCA4 | p.R1189Q | c.3566G > A | 8 | 2 | Glioma(1);Bladder Cancer(3);Renal Cell Carcinoma(1);Cancer of Unknown Primary(1);Breast Cancer(1);Esophagogastric Cancer(1) |
CDKN2A | p.E69G | c.206A > G | 7 | 0 | Non-Small Cell Lung Cancer(6);Colorectal Cancer(1) |
ERBB3 | p.M91I | c.273G > A | 7 | 2 | Bladder Cancer(6);Endometrial Cancer(1) |
ERBB3 | p.K329E | c.985A > G | 7 | 0 | Bladder Cancer(4);Breast Cancer(1);Colorectal Cancer(1);Esophagogastric Cancer(1) |
ERCC2 | p.N238S | c.713A > G | 7 | 0 | Bladder Cancer(5);Breast Cancer(2) |
FANCA | p.K1283R | c.3848A > G | 7 | 0 | Bladder Cancer(1);Endometrial Cancer(1);Hepatobiliary Cancer(1);Breast Cancer(3);Leukemia(1) |
FLT1 | p.R501K | c.1502G > A | 7 | 0 | Melanoma(1);Ovarian Cancer(1);Non-Small Cell Lung Cancer(2);Cancer of Unknown Primary(1);Breast Cancer(1);Cervical Cancer(1) |
FLT4 | p.P30fs | c.88delC | 7 | 2 | Non-Small Cell Lung Cancer(1);Colorectal Cancer(6) |
IKZF1 | p.D22N | c.64G > A | 7 | 0 | Colorectal Cancer(1);Non-Small Cell Lung Cancer(1);Melanoma(3);Glioma(1);Embryonal Tumor(1) |
KDR | p.S265 L | c.794C > T | 7 | 0 | Myelodysplasia(1);Melanoma(1);Colorectal Cancer(1);Sellar Tumor(1);Non-Small Cell Lung Cancer(2);“Skin Cancer, Non-Melanoma”(1) |
PIK3CB | p.R604fs | c.1809dupC | 7 | 1 | Bladder Cancer(1);“Skin Cancer, Non-Melanoma”(1);Breast Cancer(3);Endometrial Cancer(1);Esophagogastric Cancer(1) |
APC | p.T1160K | c.3479C > A | 6 | 0 | Ovarian Cancer(1);Salivary Gland Cancer(1);Non-Small Cell Lung Cancer(1);Melanoma(1);Colorectal Cancer(2) |
ARID1A | p.S735 N | c.2204G > A | 6 | 0 | Bladder Cancer(1);Hepatobiliary Cancer(1);Leukemia(1);Non-Small Cell Lung Cancer(1);Breast Cancer(1);Cervical Cancer(1) |
ASXL1 | p.S1028 L | c.3083C > T | 6 | 1 | Thyroid Cancer(1);Non-Small Cell Lung Cancer(2);Melanoma(1);Small Cell Lung Cancer(1);Prostate Cancer(1) |
ATRX | p.G1071R | c.3211G > A | 6 | 0 | Skin Cancer, Non-Melanoma(1);Non-Small Cell Lung Cancer(2);Breast Cancer(1);Colorectal Cancer(1);Myeloproliferative Neoplasm(1) |
BRCA1 | p.E597K | c.1789G > A | 6 | 1 | Bladder Cancer(2);“Skin Cancer, Non-Melanoma”(1);Non-Small Cell Lung Cancer(1);Breast Cancer(1);Colorectal Cancer(1) |
CARD11 | p.R377Q | c.1130G > A | 6 | 2 | Non-Hodgkin Lymphoma(1);Colorectal Cancer(1);Uterine Sarcoma(1);Ovarian Cancer(1);Small Bowel Cancer(1);“Skin Cancer, Non-Melanoma”(1) |
CDKN2A | p.V106 V | c.318G > A | 6 | 2 | Melanoma(1);Non-Small Cell Lung Cancer(2);Breast Cancer(1);Colorectal Cancer(1);Gastrointestinal Stromal Tumor(1) |
ERBB4 | p.E452K | c.1354G > A | 6 | 2 | Skin Cancer, Non-Melanoma(2);Melanoma(4) |
ERCC3 | p.R742W | c.2224C > T | 6 | 1 | Glioma(1);Sex Cord Stromal Tumor(1);Renal Cell Carcinoma(1);Non-Small Cell Lung Cancer(1);Leukemia(1);Colorectal Cancer(1) |
FBXW7 | p.R441W | c.1321C > T | 6 | 1 | Colorectal Cancer(3);Endometrial Cancer(1);Renal Cell Carcinoma(1);Esophagogastric Cancer(1) |
IGF1R | p.R1246C | c.3736C > T | 6 | 1 | CNS Cancer(1);Endometrial Cancer(2);“Skin Cancer, Non-Melanoma”(1);Breast Cancer(1);Glioma(1) |
IKZF1 | p.E304K | c.910G > A | 6 | 0 | Melanoma(6) |
KMT2D | p.K4832 N | c.14496G > T | 6 | 0 | Ovarian Cancer(1);Breast Cancer(1);Colorectal Cancer(2);Head and Neck Cancer(1);Thymic Tumor(1) |
MET | p.D1028H | c.3082G > C | 6 | 2 | Non-Small Cell Lung Cancer(6) |
MET | p.D1028Y | c.3082G > T | 6 | 0 | Non-Small Cell Lung Cancer(6) |
MYC | p.S161 L | c.482C > T | 6 | 0 | Ovarian Cancer(1);Endometrial Cancer(2);Colorectal Cancer(2);Cervical Cancer(1) |
PDCD1 | p.T36 fs | c.104delC | 6 | 2 | Endometrial Cancer(2);Non-Small Cell Lung Cancer(1);Glioma(1);Colorectal Cancer(2) |
PDCD1LG2 | p.P81S | c.241C > T | 6 | 0 | Colorectal Cancer(1);Head and Neck Cancer(1);Appendiceal Cancer(1);Mesothelioma(1);Leukemia(1);Pancreatic Cancer(1) |
PIK3C2B | p.G1435R | c.4303G > C | 6 | 0 | Head and Neck Cancer(1);Ovarian Cancer(1);Sellar Tumor(1);Appendiceal Cancer(1);Non-Small Cell Lung Cancer(1);Breast Cancer(1) |
PMS2 | p.K651R | c.1952A > G | 6 | 1 | Bladder Cancer(2);Uterine Sarcoma(1);Endometrial Cancer(1);Colorectal Cancer(2) |
RAF1 | p.S259F | c.776C > T | 6 | 1 | Small Bowel Cancer(1);Bladder Cancer(1);Non-Small Cell Lung Cancer(1);Melanoma(3) |
ROS1 | p.G1915R | c.5743G > A | 6 | 0 | Melanoma(1);“Skin Cancer, Non-Melanoma”(1);Non-Small Cell Lung Cancer(1);Breast Cancer(2);Cancer of Unknown Primary(1) |
SMAD4 | p.D351N | c.1051G > A | 6 | 2 | Appendiceal Cancer(1);Bladder Cancer(1);Hepatobiliary Cancer(1);Breast Cancer(1);Colorectal Cancer(2) |
SMAD4 | p.R361S | c.1081C > A | 6 | 2 | Pancreatic Cancer(1);Hepatobiliary Cancer(1);Colorectal Cancer(4) |
SMAD4 | p.G419 W | c.1255G > T | 6 | 1 | Colorectal Cancer(6) |