P04637
EV
Gene name |
TP53 (P53) |
Protein name |
Cellular tumor antigen p53 |
Names |
Antigen NY-CO-13, Phosphoprotein p53, Tumor suppressor p53 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7157 |
EC number |
|
Protein Class |
CELLULAR TUMOR ANTIGEN P53 (PTHR11447) |
Descriptions
The p53 protein contains several functional domains: N-terminal transactivation domains (TAD), a proline-rich domain (PRD), a DNA-binding domain (DBD), a nuclear localization signal, a tetramerization domain (TET), and a C-terminal regulatory domain.
Phosphorylation within TAD2 domain inhibits DNA-binding of p53 by enhancing competitive interactions between the transactivation domain 2 (TAD2) and DBD. Deletion of the PRD strengthens the TAD2–DBD interaction and leads to autoinhibition of DNA binding even withouth the phosphorylation within TAD2 domain. In addition, the C-terminal regulatory domain of p53 interacts with the core DNA-binding domain and locks the DNA-binding domain into an inactive conformation. p300-mediated acetylation of specific lysine residues in the C-terminus of p53 disrupts the interaction between the C-terminal domain and the DNA-binding domain, thus allowing the DNA-binding domain to adopt an active conformation. Additionally, acetylation of specific lysine residues within the C-terminus of p53 can disrupt the autoinhibition and activate p53, allowing it to function as a transcription factor and regulate genes involved in cell cycle control and DNA repair.
Autoinhibitory domains (AIDs)
Target domain |
91-292 (DBD domain) |
Relief mechanism |
PTM |
Assay |
Mutagenesis experiment |
Target domain |
91-292 (DBD domain) |
Relief mechanism |
PTM |
Assay |
Deletion assay |
Target domain |
91-292 (DBD domain) |
Relief mechanism |
PTM |
Assay |
Split protein assay |
Accessory elements
No accessory elements
References
- Ko LJ et al. (1996) "p53: puzzle and paradigm", Genes & development, 10, 1054-72
- Sun X et al. (2021) "A phosphorylation-dependent switch in the disordered p53 transactivation domain regulates DNA binding", Proceedings of the National Academy of Sciences of the United States of America, 118,
- Gregory E et al. (2022) "Sequence Properties of An Intramolecular Interaction That Inhibits p53 DNA Binding", Biomolecules, 12,
- Gu W et al. (1997) "Activation of p53 sequence-specific DNA binding by acetylation of the p53 C-terminal domain", Cell, 90, 595-606
Autoinhibited structure
Activated structure
271 structures for P04637
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1A1U | NMR | - | A/C | 324-358 | PDB |
| 1AIE | X-ray | 150 A | A | 326-356 | PDB |
| 1C26 | X-ray | 170 A | A | 325-356 | PDB |
| 1DT7 | NMR | - | X/Y | 367-388 | PDB |
| 1GZH | X-ray | 260 A | A/C | 95-292 | PDB |
| 1H26 | X-ray | 224 A | E | 376-386 | PDB |
| 1HS5 | NMR | - | A/B | 324-357 | PDB |
| 1JSP | NMR | - | A | 367-386 | PDB |
| 1KZY | X-ray | 250 A | A/B | 95-289 | PDB |
| 1MA3 | X-ray | 200 A | B | 372-389 | PDB |
| 1OLG | NMR | - | A/B/C/D | 319-360 | PDB |
| 1OLH | NMR | - | A/B/C/D | 319-360 | PDB |
| 1PES | NMR | - | A/B/C/D | 325-355 | PDB |
| 1PET | NMR | - | A/B/C/D | 325-355 | PDB |
| 1SAE | NMR | - | A/B/C/D | 319-360 | PDB |
| 1SAF | NMR | - | A/B/C/D | 319-360 | PDB |
| 1SAK | NMR | - | A/B/C/D | 319-360 | PDB |
| 1SAL | NMR | - | A/B/C/D | 319-360 | PDB |
| 1TSR | X-ray | 220 A | A/B/C | 94-312 | PDB |
| 1TUP | X-ray | 220 A | A/B/C | 94-312 | PDB |
| 1UOL | X-ray | 190 A | A/B | 94-312 | PDB |
| 1XQH | X-ray | 175 A | B/F | 369-377 | PDB |
| 1YC5 | X-ray | 140 A | B | 372-389 | PDB |
| 1YCQ | X-ray | 230 A | B | 13-29 | PDB |
| 1YCR | X-ray | 260 A | B | 15-29 | PDB |
| 1YCS | X-ray | 220 A | A | 94-292 | PDB |
| 2AC0 | X-ray | 180 A | A/B/C/D | 94-293 | PDB |
| 2ADY | X-ray | 250 A | A/B | 94-293 | PDB |
| 2AHI | X-ray | 185 A | A/B/C/D | 94-293 | PDB |
| 2ATA | X-ray | 220 A | A/B/C/D | 94-293 | PDB |
| 2B3G | X-ray | 160 A | B | 33-60 | PDB |
| 2BIM | X-ray | 198 A | A/B | 94-312 | PDB |
| 2BIN | X-ray | 190 A | A | 94-312 | PDB |
| 2BIO | X-ray | 190 A | A | 94-312 | PDB |
| 2BIP | X-ray | 180 A | A | 94-312 | PDB |
| 2BIQ | X-ray | 180 A | A | 94-312 | PDB |
| 2F1X | X-ray | 230 A | A/B | 359-368 | PDB |
| 2FEJ | NMR | - | A | 94-297 | PDB |
| 2FOJ | X-ray | 160 A | B | 361-367 | PDB |
| 2FOO | X-ray | 220 A | B | 358-363 | PDB |
| 2GS0 | NMR | - | B | 20-73 | PDB |
| 2H1L | X-ray | 316 A | M/N/O/P/Q/R/S/T/U/V/W/X | 92-292 | PDB |
| 2H2D | X-ray | 170 A | B | 372-389 | PDB |
| 2H2F | X-ray | 220 A | B | 372-389 | PDB |
| 2H4F | X-ray | 200 A | D | 372-389 | PDB |
| 2H4H | X-ray | 199 A | B | 372-389 | PDB |
| 2H4J | X-ray | 210 A | D | 372-389 | PDB |
| 2H59 | X-ray | 190 A | D/E | 372-389 | PDB |
| 2J0Z | NMR | - | A/B/C/D | 326-356 | PDB |
| 2J10 | NMR | - | A/B/C/D | 326-356 | PDB |
| 2J11 | NMR | - | A/B/C/D | 326-356 | PDB |
| 2J1W | X-ray | 180 A | A/B | 94-312 | PDB |
| 2J1X | X-ray | 165 A | A/B | 94-312 | PDB |
| 2J1Y | X-ray | 169 A | A/B/C/D | 94-293 | PDB |
| 2J1Z | X-ray | 180 A | A/B | 94-312 | PDB |
| 2J20 | X-ray | 180 A | A/B | 94-312 | PDB |
| 2J21 | X-ray | 160 A | A/B | 94-312 | PDB |
| 2K8F | NMR | - | B | 1-39 | PDB |
| 2L14 | NMR | - | B | 13-61 | PDB |
| 2LY4 | NMR | - | B | 1-93 | PDB |
| 2MEJ | NMR | - | B | 96-312 | PDB |
| 2MWO | NMR | - | B | 363-377 | PDB |
| 2MWP | NMR | - | B | 376-387 | PDB |
| 2MWY | NMR | - | B | 15-29 | PDB |
| 2MZD | NMR | - | B | 35-59 | PDB |
| 2OCJ | X-ray | 205 A | A/B/C/D | 94-312 | PDB |
| 2PCX | X-ray | 154 A | A | 94-292 | PDB |
| 2RUK | NMR | - | A | 41-62 | PDB |
| 2VUK | X-ray | 150 A | A/B | 94-312 | PDB |
| 2WGX | X-ray | 175 A | A/B | 94-312 | PDB |
| 2X0U | X-ray | 160 A | A/B | 94-312 | PDB |
| 2X0V | X-ray | 180 A | A/B | 94-312 | PDB |
| 2X0W | X-ray | 210 A | A/B | 94-312 | PDB |
| 2XWR | X-ray | 168 A | A/B | 89-293 | PDB |
| 2YBG | X-ray | 190 A | A/B/C/D | 94-293 | PDB |
| 2YDR | X-ray | 275 A | P | 144-154 | PDB |
| 2Z5S | X-ray | 230 A | P/Q/R | 15-29 | PDB |
| 2Z5T | X-ray | 230 A | P/Q/R | 15-29 | PDB |
| 3D05 | X-ray | 170 A | A | 94-293 | PDB |
| 3D06 | X-ray | 120 A | A | 94-293 | PDB |
| 3D07 | X-ray | 220 A | A/B | 94-293 | PDB |
| 3D08 | X-ray | 140 A | A | 94-293 | PDB |
| 3D09 | X-ray | 190 A | A | 94-293 | PDB |
| 3D0A | X-ray | 180 A | A/B/C/D | 94-293 | PDB |
| 3DAB | X-ray | 190 A | B/D/F/H | 15-29 | PDB |
| 3DAC | X-ray | 180 A | B/P | 17-37 | PDB |
| 3IGK | X-ray | 170 A | A | 94-293 | PDB |
| 3IGL | X-ray | 180 A | A | 94-293 | PDB |
| 3KMD | X-ray | 215 A | A/B/C/D | 92-291 | PDB |
| 3KZ8 | X-ray | 191 A | A/B | 94-293 | PDB |
| 3LW1 | X-ray | 128 A | P | 385-393 | PDB |
| 3OQ5 | X-ray | 250 A | D/E | 377-386 | PDB |
| 3PDH | X-ray | 180 A | D | 372-389 | PDB |
| 3Q01 | X-ray | 210 A | A/B | 94-356 | PDB |
| 3Q05 | X-ray | 240 A | A/B/C/D | 94-356 | PDB |
| 3Q06 | X-ray | 320 A | A/B/C/D | 96-354 | PDB |
| 3SAK | NMR | - | A/B/C/D | 319-360 | PDB |
| 3TG5 | X-ray | 230 A | B | 365-375 | PDB |
| 3TS8 | X-ray | 280 A | A/B/C/D | 94-356 | PDB |
| 3ZME | X-ray | 135 A | A/B | 94-312 | PDB |
| 4AGL | X-ray | 170 A | A/B | 94-312 | PDB |
| 4AGM | X-ray | 152 A | A/B | 94-312 | PDB |
| 4AGN | X-ray | 160 A | A/B | 94-312 | PDB |
| 4AGO | X-ray | 145 A | A/B | 94-312 | PDB |
| 4AGP | X-ray | 150 A | A/B | 94-312 | PDB |
| 4AGQ | X-ray | 142 A | A/B | 94-312 | PDB |
| 4BUZ | X-ray | 190 A | P | 379-386 | PDB |
| 4BV2 | X-ray | 330 A | E/H | 376-388 | PDB |
| 4HFZ | X-ray | 269 A | B/D | 15-29 | PDB |
| 4HJE | X-ray | 191 A | A/B/C/D | 92-291 | PDB |
| 4IBQ | X-ray | 180 A | A/B/C/D | 94-293 | PDB |
| 4IBS | X-ray | 178 A | A/B/C/D | 94-293 | PDB |
| 4IBT | X-ray | 170 A | A/B/C/D | 94-293 | PDB |
| 4IBU | X-ray | 170 A | A/B/C/D | 94-293 | PDB |
| 4IBV | X-ray | 210 A | A | 94-293 | PDB |
| 4IBW | X-ray | 179 A | A | 94-293 | PDB |
| 4IBY | X-ray | 145 A | A/B | 94-293 | PDB |
| 4IBZ | X-ray | 192 A | A/B/C/D | 94-293 | PDB |
| 4IJT | X-ray | 178 A | A | 94-293 | PDB |
| 4KVP | X-ray | 150 A | A/B/C/D | 94-312 | PDB |
| 4LO9 | X-ray | 250 A | A/B/C/D | 94-312 | PDB |
| 4LOE | X-ray | 185 A | A/B/C/D | 94-312 | PDB |
| 4LOF | X-ray | 200 A | A | 94-312 | PDB |
| 4MZI | X-ray | 125 A | A | 94-292 | PDB |
| 4MZR | X-ray | 290 A | A/B/C/D | 94-358 | PDB |
| 4QO1 | X-ray | 192 A | B | 92-312 | PDB |
| 4RP6 | X-ray | 170 A | Z | 252-258 | PDB |
| 4RP7 | X-ray | 158 A | Z | 253-258 | PDB |
| 4X34 | X-ray | 180 A | C/D | 377-386 | PDB |
| 4XR8 | X-ray | 225 A | C/D | 94-292 | PDB |
| 4ZZJ | X-ray | 274 A | B | 379-383 | PDB |
| 5A7B | X-ray | 140 A | A/B | 94-312 | PDB |
| 5AB9 | X-ray | 136 A | A/B | 94-312 | PDB |
| 5ABA | X-ray | 162 A | A/B | 94-312 | PDB |
| 5AOI | X-ray | 178 A | A/B | 94-312 | PDB |
| 5AOJ | X-ray | 147 A | A/B | 94-312 | PDB |
| 5AOK | X-ray | 135 A | A/B | 94-312 | PDB |
| 5AOL | X-ray | 150 A | A/B | 94-312 | PDB |
| 5AOM | X-ray | 174 A | A/B | 94-312 | PDB |
| 5BUA | X-ray | 181 A | A | 94-293 | PDB |
| 5ECG | X-ray | 300 A | A/B | 95-312 | PDB |
| 5G4M | X-ray | 138 A | A/B | 94-312 | PDB |
| 5G4N | X-ray | 135 A | A/B | 94-312 | PDB |
| 5G4O | X-ray | 148 A | A/B | 94-312 | PDB |
| 5HOU | NMR | - | A | 1-61 | PDB |
| 5HP0 | NMR | - | A | 37-61 | PDB |
| 5HPD | NMR | - | A | 2-61 | PDB |
| 5LAP | X-ray | 142 A | A/B | 94-312 | PDB |
| 5LGY | X-ray | 292 A | A/B/C/D | 94-291 | PDB |
| 5MCT | X-ray | 145 A | A/B | 94-293 | PDB |
| 5MCU | X-ray | 170 A | A/B | 94-293 | PDB |
| 5MCV | X-ray | 160 A | A/B | 94-293 | PDB |
| 5MCW | X-ray | 190 A | A/B | 94-293 | PDB |
| 5MF7 | X-ray | 159 A | A/B | 94-293 | PDB |
| 5MG7 | X-ray | 145 A | A/B | 94-293 | PDB |
| 5MHC | X-ray | 120 A | P | 382-393 | PDB |
| 5MOC | X-ray | 180 A | P | 382-393 | PDB |
| 5O1A | X-ray | 144 A | A/B | 94-312 | PDB |
| 5O1B | X-ray | 143 A | A/B | 94-312 | PDB |
| 5O1C | X-ray | 132 A | A/B | 94-312 | PDB |
| 5O1D | X-ray | 136 A | A/B | 94-312 | PDB |
| 5O1E | X-ray | 130 A | A/B | 94-312 | PDB |
| 5O1F | X-ray | 138 A | A/B | 94-312 | PDB |
| 5O1G | X-ray | 135 A | A/B | 94-312 | PDB |
| 5O1H | X-ray | 132 A | A/B | 94-312 | PDB |
| 5O1I | X-ray | 140 A | A/B | 94-312 | PDB |
| 5OL0 | X-ray | 199 A | C/D | 372-389 | PDB |
| 5UN8 | X-ray | 213 A | E/F/G/H | 144-154 | PDB |
| 5XZC | EM | 1070 A | B/C/D/E | 92-356 | PDB |
| 6FF9 | X-ray | 200 A | A/B/C/D | 97-289 | PDB |
| 6FJ5 | X-ray | 205 A | A/B/C/D | 94-293 | PDB |
| 6GGA | X-ray | 155 A | A/B | 94-312 | PDB |
| 6GGB | X-ray | 132 A | A/B | 94-312 | PDB |
| 6GGC | X-ray | 124 A | A/B | 94-312 | PDB |
| 6GGD | X-ray | 140 A | A/B | 94-312 | PDB |
| 6GGE | X-ray | 125 A | A/B | 94-312 | PDB |
| 6GGF | X-ray | 132 A | A/B | 94-312 | PDB |
| 6LHD | X-ray | 250 A | A/B | 96-292 | PDB |
| 6R5L | X-ray | 188 A | P | 382-393 | PDB |
| 6RJZ | X-ray | 158 A | P | 382-393 | PDB |
| 6RK8 | X-ray | 160 A | P | 382-393 | PDB |
| 6RKI | X-ray | 188 A | P | 382-393 | PDB |
| 6RKK | X-ray | 188 A | P | 382-393 | PDB |
| 6RKM | X-ray | 188 A | P | 382-393 | PDB |
| 6RL3 | X-ray | 130 A | P | 382-393 | PDB |
| 6RL4 | X-ray | 160 A | P | 382-393 | PDB |
| 6RL6 | X-ray | 160 A | P | 382-393 | PDB |
| 6RM5 | X-ray | 188 A | P | 382-393 | PDB |
| 6RM7 | X-ray | 160 A | P | 382-393 | PDB |
| 6RWH | X-ray | 168 A | P | 382-393 | PDB |
| 6RWI | X-ray | 165 A | P | 382-393 | PDB |
| 6RWS | X-ray | 153 A | P | 382-393 | PDB |
| 6RWU | X-ray | 146 A | P | 382-393 | PDB |
| 6RX2 | X-ray | 182 A | P | 382-393 | PDB |
| 6RZ3 | X-ray | 423 A | A | 62-292 | PDB |
| 6S39 | X-ray | 188 A | P | 382-393 | PDB |
| 6S3C | X-ray | 200 A | P | 382-393 | PDB |
| 6S40 | X-ray | 190 A | P | 382-393 | PDB |
| 6S9Q | X-ray | 169 A | P | 382-393 | PDB |
| 6SHZ | X-ray | 124 A | A/B | 94-311 | PDB |
| 6SI0 | X-ray | 153 A | A/B | 94-312 | PDB |
| 6SI1 | X-ray | 144 A | A/B | 94-312 | PDB |
| 6SI2 | X-ray | 150 A | A/B | 94-312 | PDB |
| 6SI3 | X-ray | 140 A | A/B | 94-312 | PDB |
| 6SI4 | X-ray | 180 A | A/B | 94-312 | PDB |
| 6SIN | X-ray | 164 A | P | 382-393 | PDB |
| 6SIO | X-ray | 160 A | P | 382-393 | PDB |
| 6SIP | X-ray | 160 A | P | 382-393 | PDB |
| 6SIQ | X-ray | 160 A | P | 382-393 | PDB |
| 6SL6 | X-ray | 167 A | A | 89-311 | PDB |
| 6SLV | X-ray | 190 A | P | 382-393 | PDB |
| 6T58 | X-ray | 310 A | A/B | 17-56 | PDB |
| 6V4F | X-ray | 135 A | B | 14-29 | PDB |
| 6V4H | X-ray | 153 A | B/D | 14-29 | PDB |
| 6VQO | X-ray | 300 A | P/Q | 168-176 | PDB |
| 6VR1 | X-ray | 237 A | P/Q | 168-176 | PDB |
| 6VR5 | X-ray | 238 A | P/Q | 168-176 | PDB |
| 6VRM | X-ray | 261 A | P | 168-176 | PDB |
| 6VRN | X-ray | 246 A | P | 168-176 | PDB |
| 6W51 | X-ray | 353 A | C/F/I/L | 168-176 | PDB |
| 6XRE | EM | 460 A | M | 1-393 | PDB |
| 6ZNC | X-ray | 164 A | A | 94-293 | PDB |
| 7B46 | X-ray | 202 A | A/B/C/D | 94-293 | PDB |
| 7B47 | X-ray | 180 A | A/B/C/D | 94-293 | PDB |
| 7B48 | X-ray | 205 A | A/B/C/D | 94-293 | PDB |
| 7B49 | X-ray | 142 A | A/B | 94-293 | PDB |
| 7B4A | X-ray | 190 A | A/B | 94-293 | PDB |
| 7B4B | X-ray | 176 A | A/B/C/D | 94-293 | PDB |
| 7B4C | X-ray | 171 A | A/B/C/D | 94-293 | PDB |
| 7B4D | X-ray | 185 A | A | 94-293 | PDB |
| 7B4E | X-ray | 158 A | A | 94-293 | PDB |
| 7B4F | X-ray | 178 A | A | 94-293 | PDB |
| 7B4G | X-ray | 186 A | A | 94-293 | PDB |
| 7B4H | X-ray | 139 A | A | 94-293 | PDB |
| 7B4N | X-ray | 132 A | A | 94-293 | PDB |
| 7BWN | X-ray | 240 A | B/D/G/I/K/L/N/P | 326-356 | PDB |
| 7DHY | X-ray | 215 A | A/B/C/D | 94-293 | PDB |
| 7DHZ | X-ray | 174 A | A/B | 94-293 | PDB |
| 7DVD | X-ray | 259 A | A/B/C/D | 92-290 | PDB |
| 7EAX | X-ray | 255 A | A/B/C/D | 96-289 | PDB |
| 7EDS | X-ray | 177 A | A | 94-293 | PDB |
| 7EEU | X-ray | 290 A | A/B/C/D/E/F/G/H | 94-293 | PDB |
| 7EL4 | X-ray | 211 A | A | 23-29 | PDB |
| 7NMI | X-ray | 210 A | A | 17-56 | PDB |
| 7RM4 | X-ray | 333 A | C/H/M/R | 168-176 | PDB |
| 7V97 | X-ray | 202 A | A/B/C/D | 94-293 | PDB |
| 7XZX | EM | 453 A | K/L/M/N | 94-293 | PDB |
| 7XZZ | EM | 407 A | K/L/M/N | 1-393 | PDB |
| 7YGI | X-ray | 210 A | A/B | 92-289 | PDB |
| 8A31 | X-ray | 146 A | A/B | 94-312 | PDB |
| 8A32 | X-ray | 147 A | A/B | 94-312 | PDB |
| 8A92 | X-ray | 137 A | A/B | 94-312 | PDB |
| 8CG7 | X-ray | 153 A | A/B | 94-312 | PDB |
| 8DC4 | X-ray | 240 A | A/B/C/D | 94-312 | PDB |
| 8DC6 | X-ray | 160 A | A/B/C/D | 94-312 | PDB |
| 8DC7 | X-ray | 199 A | A | 94-312 | PDB |
| 8DC8 | X-ray | 172 A | A | 94-312 | PDB |
| 8E7A | X-ray | 130 A | A | 93-312 | PDB |
| 8E7B | X-ray | 250 A | A/B | 93-312 | PDB |
| 8F2H | EM | 420 A | A/B | 1-393 | PDB |
| 8F2I | EM | 500 A | A | 1-393 | PDB |
| 8HLL | X-ray | 262 A | A | 95-290 | PDB |
| 8HLM | X-ray | 252 A | A | 95-290 | PDB |
| 8HLN | X-ray | 235 A | A | 95-290 | PDB |
| 8OXM | EM | 330 A | E/F | 11-22 | PDB |
| 8OXO | EM | 300 A | E/F | 11-22 | PDB |
| 8R1F | EM | 367 A | C | 1-393 | PDB |
| 8R1G | EM | 399 A | C/F | 1-393 | PDB |
| 8UQR | X-ray | 122 A | A/B/C/D | 326-356 | PDB |
| 8WD2 | X-ray | 185 A | A/B | 94-312 | PDB |
| AF-P04637-F1 | Predicted | AlphaFoldDB |
1248 variants for P04637
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001189589 rs2073524631 RCV001876218 |
2 | E>G | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs769884991 RCV000579480 RCV000695387 CA004009 |
2 | E>K | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000167456 rs786203938 RCV000534086 CA000486 |
3 | E>G | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000759369 CA10583686 RCV000662489 RCV000229754 rs878854064 RCV000571530 |
4 | P>L | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878854064 CA16615964 RCV000475451 |
4 | P>R | Li-fraumeni syndrome 1 (lfs1) Li-Fraumeni syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000220312 CA003990 RCV000550564 rs781595324 |
5 | Q>R | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000574520 CA397849316 rs587781277 |
7 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781277 RCV001800422 CA000076 RCV000802467 RCV000128929 RCV000200997 |
7 | D>E | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782646 COSM45800 CA000065 RCV000132048 VAR_005851 |
7 | D>H | a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome skin [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA10580967 RCV000221732 rs876659415 |
8 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555527015 RCV000534258 CA397849248 |
9 | S>N | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757282628 RCV001016639 CA003949 RCV000587100 |
9 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001016637 CA397849245 rs757282628 |
9 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA397849282 RCV000633332 rs1555527017 |
9 | S>R | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000203717 RCV000662410 COSM1386938 rs535274413 RCV000235217 VAR_044546 RCV000989729 RCV000781916 COSM1386937 CA000093 RCV000115717 COSM45361 |
10 | V>I | lung Squamous cell carcinoma of the head and neck Li-fraumeni syndrome 1 (lfs1) a sporadic cancer; somatic mutation large_intestine Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000220427 rs535274413 CA10580966 |
10 | V>L | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000226569 COSM11606 CA000106 COSM327260 VAR_044548 RCV000213044 RCV000161016 RCV000034640 rs201382018 COSM327259 |
11 | E>Q | sporadic cancers; somatic mutation lung Li-fraumeni syndrome 1 (lfs1) large_intestine Hereditary cancer-predisposing syndrome prostate haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [UniProt, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000701186 rs1482497533 CA397849152 |
12 | P>H | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000633363 RCV000772527 rs1482497533 CA397849144 |
12 | P>L | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000226793 CA10583685 rs878854070 |
13 | P>L | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000571735 CA397849109 rs878854070 |
13 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1060501208 RCV000574176 RCV000478642 CA16616008 RCV000468196 |
13 | P>S | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555527002 RCV000576812 |
14 | L>missing | Li-Fraumeni syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397849099 rs1567558112 RCV000699996 |
14 | L>V | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555526997 RCV000633337 |
16 | Q>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000213243 rs876658627 |
18 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691018 RCV000492768 |
20 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000219749 rs876659913 CA10580963 |
20 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397516438 RCV000036535 RCV000569180 |
26 | L>missing | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001184855 rs2073507946 |
26 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555526933 RCV001858168 CA397848433 RCV000572822 |
27 | P>L | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA287489277 RCV000771430 COSM1167902 COSM1167900 RCV000633393 rs922736614 COSM1167901 |
27 | P>S | Hereditary cancer-predisposing syndrome skin Li-Fraumeni syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs922736614 CA16615735 RCV000468603 |
27 | P>T | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA000449 RCV001850309 rs786202289 RCV000165025 |
28 | E>V | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555526931 RCV000633338 |
29 | N>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397848387 RCV001018048 rs1597375899 |
29 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000213045 rs587782270 RCV000656986 RCV000131064 RCV000227012 |
30 | N>missing | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000222526 rs201753350 RCV001854708 CA10580962 |
31 | V>F | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM1717726 COSM45360 RCV000586196 RCV000122173 CA357868 COSM1717728 VAR_044554 rs201753350 RCV000123100 RCV000409871 RCV000115742 COSM1717727 |
31 | V>I | sporadic cancers; somatic mutation lung Li-fraumeni syndrome 1 (lfs1) adrenal_gland Hereditary cancer-predisposing syndrome urinary_tract Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [UniProt, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000492612 rs1131691041 |
33 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397848079 RCV000561224 rs1555526832 |
33 | S>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000205889 CA000012 RCV000483753 RCV000165887 rs786201968 |
34 | P>A | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA397848051 rs1322947350 RCV000772948 |
34 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000471959 rs786201968 RCV000164526 CA000011 |
34 | P>T | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000013170 rs121912661 COSM46160 CA000025 COSM45193 |
35 | L>F | lung Carcinoma of pancreas Li-fraumeni syndrome 1 (lfs1) liver pancreas [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
CA000024 RCV000481187 COSM46160 rs121912661 RCV000131759 VAR_005852 RCV000633325 COSM45193 |
35 | L>F | sporadic cancers; somatic mutation lung Li-fraumeni syndrome 1 (lfs1) liver pancreas Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [UniProt, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000470404 rs1060501211 CA16615715 RCV000572574 |
35 | L>M | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2073488821 RCV001233550 |
36 | P>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781866 RCV001860613 CA003257 RCV001009836 VAR_044557 |
36 | P>L | Li-fraumeni syndrome 1 (lfs1) a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000213046 RCV000662689 RCV000130183 rs587781866 RCV000469733 CA000031 |
36 | P>Q | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1567557177 CA397847974 RCV000688189 |
37 | S>F | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555526795 RCV000544374 |
38 | Q>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_044561 CA397847899 RCV000690309 rs1353016807 |
39 | A>V | a sporadic cancer; somatic mutation Li-Fraumeni syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000132511 CA000050 rs587782877 |
40 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555526789 RCV000562780 CA397847025 |
41 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2073485631 RCV001209064 |
42 | D>* | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000129995 CA000052 rs587781767 |
42 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555526784 RCV000566048 |
42 | D>G* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615713 rs1060501190 COSM45880 RCV000459820 VAR_044563 |
44 | M>I | a sporadic cancer; somatic mutation haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs2073484962 RCV001192163 |
44 | M>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000132061 rs587782650 |
46 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM45011 VAR_044568 rs876659630 RCV000218555 CA10580961 |
46 | S>P | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome skin haematopoietic_and_lymphoid_tissue [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1567557016 RCV000696659 |
47 | P>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000463583 CA16615959 rs1800371 |
47 | P>T | Li-fraumeni syndrome 1 (lfs1) Li-Fraumeni syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000813083 RCV000129395 CA000055 rs587781460 |
48 | D>E | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000219898 rs759728549 RCV000702036 CA003170 |
49 | D>G | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001123209 rs587780728 COSM305602 COSM305601 RCV000589340 VAR_044572 RCV000165946 COSM305603 RCV000540357 CA000056 RCV000423399 |
49 | D>N | Li-fraumeni syndrome 1 (lfs1) a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome central_nervous_system Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Ensembl, UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000633380 rs370502517 CA000059 RCV000167020 |
50 | I>N | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV000220760 RCV000197538 rs370502517 CA337284 RCV000662678 |
50 | I>T | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
COSM3820733 RCV000689241 COSM1731913 rs1567556930 COSM1564162 CA397846566 COSM44907 COSM1564161 |
51 | E>* | upper_aerodigestive_tract ovary NS large_intestine skin haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000700746 rs1567556923 CA397846560 |
51 | E>G | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2073481527 RCV001054654 |
52 | Q>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001177213 rs2073481789 |
52 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555526750 RCV000633379 |
52 | Q>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567556914 RCV000785248 |
52 | Q>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782609 RCV000131982 CA168994 |
52 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000227571 rs774656101 CA003159 RCV000562350 |
52 | Q>R | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555526748 RCV000528831 |
53 | W>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1195793509 RCV000785268 CA624865029 |
53 | W>* | Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs876658483 COSM3388236 COSM3388235 COSM3712586 CA10580959 COSM44488 RCV000693351 COSM399760 COSM3712585 COSM1324762 COSM399761 COSM44760 RCV000222677 COSM1324763 |
53 | W>* | lung upper_aerodigestive_tract ovary pancreas oesophagus Hereditary cancer-predisposing syndrome central_nervous_system Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000571144 VAR_044576 rs1555526742 CA397846436 COSM46175 |
54 | F>L | a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome urinary_tract [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs587782776 RCV000411346 RCV000132310 CA000060 |
57 | D>E | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000115715 RCV000662515 CA000061 RCV000122181 RCV000586104 rs144386518 |
58 | P>R | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1567556784 RCV000785292 |
59 | G>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1664640 rs1567556752 CA397846175 COSM10827 COSM1664642 COSM1664641 RCV000754578 |
62 | E>* | lung kidney liver Hereditary cancer-predisposing syndrome urinary_tract breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA10580957 RCV000587780 RCV000216082 RCV000614877 RCV000465288 rs372201428 |
63 | A>G | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs876658902 VAR_044589 CA10580958 RCV000213479 COSM46281 |
63 | A>T | salivary_gland a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000467874 RCV000161018 RCV000663264 CA000063 VAR_044590 RCV000213047 rs372201428 |
63 | A>V | Li-fraumeni syndrome 1 (lfs1) a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Ensembl, UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000785253 COSM707854 COSM707853 rs1555526721 COSM3958857 COSM10885 CA397846088 COSM1646878 |
65 | R>* | lung ovary urinary_tract Neoplasm of ovary [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001873250 RCV001013757 CA397846091 rs1555526721 |
65 | R>G | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501210 VAR_044591 RCV000471826 CA16615958 |
65 | R>T | a sporadic cancer; somatic mutation Li-Fraumeni syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_044592 rs1555526711 CA397846006 COSM44042 RCV000565744 |
66 | M>I | a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1555526709 RCV000633377 CA397845972 |
67 | P>Q | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001853361 RCV000210192 COSM3378370 COSM1646879 COSM131521 rs869312782 COSM11513 COSM131522 CA353535 |
68 | E>* | lung liver pancreas Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs869312782 CA397845956 RCV000580822 COSM44917 |
68 | E>Q | adrenal_gland Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
VAR_044600 RCV000222309 COSM43803 rs756233241 RCV000991140 CA10580956 |
69 | A>G | sporadic cancers; somatic mutation lung Hereditary cancer-predisposing syndrome soft_tissue prostate Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1567556618 RCV001177508 |
69 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000698086 rs1567556618 CA397845904 |
69 | A>T | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM44680 rs756233241 VAR_044602 RCV000633366 CA287489112 |
69 | A>V | a sporadic cancer; somatic mutation skin Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1567556594 RCV000774900 CA397845860 |
70 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA397845842 RCV000700185 rs1567556576 |
71 | P>A | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000230713 rs878854065 CA10583684 |
71 | P>R | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000771703 rs1567556576 RCV000693744 CA397845838 |
71 | P>S | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492601 rs1131691014 |
72 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA000070 rs587782769 RCV000478624 RCV000409340 COSM3738520 RCV000473980 RCV000132297 |
72 | P>A | kidney Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_045784 RCV000410841 RCV000161055 RCV000554325 CA000069 RCV000587915 rs730882014 |
72 | P>C | Hereditary cancer-predisposing syndrome sporadic cancers; somatic mutation; requires 2 nucleotide substitutions Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1042522 RCV000164487 VAR_045786 RCV000227427 CA000071 |
72 | P>H | sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [UniProt, Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM250061 CA10583683 RCV000233585 rs878854066 |
72 | P>R | upper_aerodigestive_tract liver urinary_tract central_nervous_system Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA003069 RCV000573116 rs587782769 COSM44018 |
72 | P>S | Hereditary cancer-predisposing syndrome urinary_tract haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000223537 CA003071 rs587782769 |
72 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000492385 RCV000785475 rs730882018 RCV001382264 |
73 | V>missing | Hereditary cancer-predisposing syndrome Neoplasm of ovary Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000013157 RCV000161059 RCV000538223 rs730882018 |
73 | V>missing | Li-Fraumeni-like syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA000075 RCV000986048 rs587782423 RCV001192621 RCV000131474 RCV000553568 COSM43787 VAR_044607 |
73 | V>M | sporadic cancers; somatic mutation liver Hereditary cancer-predisposing syndrome urinary_tract Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA000077 rs587781832 RCV000487230 COSM43671 RCV000130119 RCV000816275 |
74 | A>V | oesophagus Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000492268 rs1555526610 |
76 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000785450 rs1567556454 |
76 | A>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000633383 CA397845619 rs753085009 |
77 | P>S | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA003025 RCV000546598 RCV000563835 rs753085009 |
77 | P>T | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000552207 RCV000219512 CA10580955 rs876658527 |
78 | A>G | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000573984 CA397845606 rs1555526673 |
78 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000567464 rs754312472 RCV000531064 |
79 | A>missing | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615999 VAR_044619 rs1060501204 RCV000477161 RCV000566683 |
80 | P>S | a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2073470833 RCV001218097 |
81 | T>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000707346 rs1567556386 CA397845528 COSM44200 |
81 | T>I | skin central_nervous_system Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA397845525 RCV000573848 rs1555526664 |
82 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM303859 COSM303860 rs534447939 COSM43910 CA000080 VAR_044621 |
82 | P>L | salivary_gland upper_aerodigestive_tract large_intestine haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000545821 rs534447939 CA397845507 |
82 | P>R | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1131691010 RCV000492289 |
83 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000785281 rs867725248 |
83 | A>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567556270 RCV000785483 |
83 | A>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130694 COSM44938 VAR_044623 rs201717599 CA000082 |
83 | A>E | a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome skin [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000129026 CA000085 RCV000462026 RCV000759372 rs587781307 RCV000409852 |
84 | A>T | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1064793279 RCV001856820 RCV000486807 |
85 | P>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2073468813 RCV001184195 |
85 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000365382 rs886041861 RCV000709410 |
86 | A>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000785459 rs1567556165 |
87 | P>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397845323 RCV000773977 rs1567556231 |
88 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000565147 rs1555526631 CA397845305 VAR_044631 |
88 | A>V | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001016237 rs1597374210 CA397845257 |
89 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587783062 RCV000785494 |
90 | S>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000144663 rs587783062 |
90 | S>missing | Li-Fraumeni syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555526625 COSM46099 VAR_044634 RCV000633387 CA397845218 |
90 | S>F | sporadic cancers; somatic mutation urinary_tract Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1064796124 RCV000479803 RCV001865473 |
91 | W>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2073465664 RCV001258110 |
91 | W>* | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM44492 COSM1646881 COSM3958856 RCV000233967 CA10580953 COSM562611 COSM562612 RCV000220815 rs876660548 COSM323934 COSM44192 COSM3378448 RCV000657656 COSM3378447 COSM323933 |
91 | W>* | upper_aerodigestive_tract Hereditary cancer-predisposing syndrome skin central_nervous_system urinary_tract lung ovary Li-fraumeni syndrome 1 (lfs1) pancreas oesophagus large_intestine breast Li-Fraumeni syndrome [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000566433 VAR_044638 CA397845138 COSM45972 rs1210700121 |
92 | P>L | a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome skin [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
rs1567556123 RCV000785294 |
93 | L>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000785287 rs1567556114 |
93 | L>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016546 rs1597374098 |
93 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000785322 rs878854068 |
95 | S>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878854068 RCV000662816 RCV000230646 |
96 | S>missing | Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397844977 rs730882023 RCV000545045 |
97 | V>F | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001850278 rs730882023 CA000092 RCV000161064 |
97 | V>L | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1245723119 CA397844920 RCV000633328 VAR_044651 COSM44681 |
98 | P>L | sporadic cancers; somatic mutation urinary_tract skin haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
rs1597374015 COSM1386882 COSM12296 CA397844943 COSM1386881 RCV001017524 |
98 | P>S | oesophagus large_intestine Hereditary cancer-predisposing syndrome skin haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000633340 rs1555526593 |
99 | S>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000161056 rs730882015 |
99 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567556019 RCV000686905 CA397844904 |
99 | S>C | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM44036 CA397844901 RCV000702643 rs1567556019 |
99 | S>F | upper_aerodigestive_tract haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000785260 RCV001265627 rs1567556006 |
100 | Q>missing | Malignant tumor of esophagus Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567555994 CA397844879 COSM1189392 COSM1189391 COSM44032 RCV000785339 |
100 | Q>* | lung upper_aerodigestive_tract ovary oesophagus adrenal_gland large_intestine skin Neoplasm of ovary haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM45508 VAR_044656 CA10583680 rs878854069 RCV000234638 |
101 | K>N | a sporadic cancer; somatic mutation haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
VAR_044658 COSM43678 CA000098 rs786202717 RCV000165667 |
102 | T>I | sporadic cancers; somatic mutation oesophagus adrenal_gland Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000706015 CA397844806 rs1567555968 RCV000771730 |
102 | T>S | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555526586 RCV000568362 |
103 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000559575 CA397844787 rs1555526589 |
103 | Y>H | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000570916 rs1555526565 |
104 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000785246 rs1567555939 |
104 | Q>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000686865 COSM3727867 COSM2745029 COSM10886 COSM308171 CA397844771 rs1567555934 COSM308172 |
104 | Q>* | lung ovary biliary_tract oesophagus skin urinary_tract haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001239658 rs2073458214 |
105 | G>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597373856 CA915949547 RCV001018786 COSM42812 |
105 | G>A | Hereditary cancer-predisposing syndrome central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA000102 RCV000228756 COSM45997 VAR_044662 RCV000129479 COSM562614 RCV000201000 COSM562613 COSM1649366 rs587781504 |
105 | G>D | sporadic cancers; somatic mutation lung Hereditary cancer-predisposing syndrome urinary_tract haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
|
COSM2155201 CA16615732 VAR_044663 COSM45179 COSM2155200 COSM2155202 RCV000475325 COSM3403300 RCV000492606 rs1060501195 |
105 | G>R | sporadic cancers; somatic mutation lung ovary Hereditary cancer-predisposing syndrome central_nervous_system Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM78687 CA397844735 COSM1386873 RCV000492331 COSM1386874 rs1060501195 VAR_044664 |
105 | G>S | ovary a sporadic cancer; somatic mutation large_intestine Hereditary cancer-predisposing syndrome [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000785342 rs587781504 CA501187 COSM46161 |
105 | G>V | pancreas Neoplasm of ovary [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV000774504 CA397844701 rs1567555883 |
106 | S>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001216547 rs2073457407 |
107 | Y>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000473161 CA16615729 rs770776262 COSM213589 COSM45040 COSM11448 COSM213590 |
107 | Y>* | lung upper_aerodigestive_tract skin breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000132052 COSM44994 VAR_044668 COSM437637 rs587782447 CA000110 RCV000709408 COSM437638 |
107 | Y>C | a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000235219 RCV000588191 RCV000991146 CA000104 VAR_044670 RCV000128936 rs368771578 RCV000411273 COSM3734765 |
107 | Y>H | Li-fraumeni syndrome 1 (lfs1) a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome small_intestine Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Ensembl, UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs368771578 CA16615731 RCV000460800 |
107 | Y>N | Li-fraumeni syndrome 1 (lfs1) Li-Fraumeni syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000131517 CA000108 rs587782447 |
107 | Y>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886039495 RCV000255088 RCV001855008 |
108 | G>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000144666 rs587783063 |
108 | G>missing | Li-Fraumeni syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782461 CA397844639 RCV000527049 |
108 | G>R | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587782461 RCV000131548 COSM44037 CA000114 RCV000458425 VAR_044672 RCV000679368 |
108 | G>S | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001019446 rs1597373769 |
109 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689843 rs1567555808 |
109 | F>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064795434 RCV001053810 RCV000479264 |
109 | F>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001293594 rs2073455679 |
109 | F>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691031 RCV000492114 |
109 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691038 RCV000492295 |
109 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM265871 CA397844600 COSM78686 rs1064796722 COSM265872 RCV000785545 |
109 | F>C | lung ovary large_intestine Neoplasm of ovary [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM148180 RCV000484423 RCV001865485 rs1064796722 CA16620637 VAR_044675 COSM45169 COSM148181 |
109 | F>S | sporadic cancers; somatic mutation skin stomach Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000131618 rs587782490 |
110 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587780066 RCV000115718 RCV001854558 |
110 | R>missing | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040902 rs587780066 |
110 | R>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397844579 rs587781371 RCV001019706 |
110 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs11540654 COSM10716 COSM1646883 COSM99928 RCV000492590 CA002845 VAR_005861 RCV000473145 COSM99929 COSM3723935 |
110 | R>L | upper_aerodigestive_tract liver Hereditary cancer-predisposing syndrome urinary_tract lung ovary Li-fraumeni syndrome 1 (lfs1) oesophagus pancreas large_intestine soft_tissue a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM11250 rs11540654 COSM2745016 COSM2745018 CA10580948 VAR_005862 RCV000222678 COSM2745017 COSM3388234 RCV000231991 |
110 | R>P | sporadic cancers; somatic mutation lung upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) pancreas oesophagus large_intestine Hereditary cancer-predisposing syndrome soft_tissue breast Li-Fraumeni syndrome [UniProt, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM45604 RCV000461586 rs587781371 VAR_044678 RCV000129184 CA000117 |
110 | R>S | salivary_gland a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000699900 RCV000492097 rs1131691004 |
111 | L>missing | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000459042 RCV000435918 RCV000441916 RCV000480700 RCV000428739 COSM437627 RCV000442239 VAR_044680 RCV000417617 rs1057519997 CA16603049 COSM44045 COSM3820726 COSM3820727 RCV000425579 RCV000425862 COSM437626 RCV000435274 |
111 | L>P | Carcinoma of esophagus Glioblastoma central_nervous_system urinary_tract B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Gastric adenocarcinoma sporadic cancers; somatic mutation oesophagus Squamous cell lung carcinoma large_intestine haematopoietic_and_lymphoid_tissue breast Breast neoplasm Li-Fraumeni syndrome Malignant melanoma of skin [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM44630 RCV000421931 RCV000433045 COSM707860 RCV000443054 CA16603051 VAR_044681 RCV000442091 COSM1646885 COSM707861 RCV000424730 rs1057519997 RCV000433598 RCV000442462 RCV000434970 |
111 | L>Q | upper_aerodigestive_tract Carcinoma of esophagus Glioblastoma skin Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Gastric adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell lung carcinoma large_intestine Malignant melanoma of skin Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000420444 RCV000430499 RCV000423328 CA16603050 VAR_044682 COSM44570 RCV000440112 RCV000423948 RCV000429869 RCV000441661 RCV000435486 rs1057519997 |
111 | L>R | Carcinoma of esophagus liver Glioblastoma central_nervous_system Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Gastric adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell lung carcinoma large_intestine haematopoietic_and_lymphoid_tissue breast Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1423803759 CA397844540 RCV000581490 COSM44989 VAR_044684 |
112 | G>S | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
CA397844504 RCV001020171 COSM11780 rs1567555667 |
113 | F>S | ovary upper_aerodigestive_tract Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000129770 RCV000633376 COSM3970386 rs587781642 COSM165070 COSM2745007 COSM165071 VAR_033033 CA000124 COSM11498 |
113 | F>V | sporadic cancers; somatic mutation lung ovary upper_aerodigestive_tract oesophagus Hereditary cancer-predisposing syndrome breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA397844474 RCV000785466 COSM331842 rs781724995 COSM46344 COSM331841 |
114 | L>* | lung Neoplasm of ovary breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000537102 CA002835 rs781724995 |
114 | L>S | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2073453049 RCV001179140 |
115 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000576064 rs1555526532 CA397844462 |
115 | H>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575197 RCV000161021 rs730881996 CA000126 RCV000696891 |
115 | H>R | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_044693 rs1555526518 RCV000565337 COSM44914 CA397844412 |
117 | G>R | sporadic cancers; somatic mutation adrenal_gland Hereditary cancer-predisposing syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000526166 COSM44051 CA16620635 VAR_044695 RCV000569220 RCV000484765 rs1064794141 |
118 | T>I | sporadic cancers; somatic mutation upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [UniProt, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000567984 CA397844371 rs1555526506 |
119 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597373517 RCV001020652 |
120 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM21593 RCV000013158 CA000132 rs121912658 |
120 | K>* | lung Li-Fraumeni-like syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000696142 RCV000213049 VAR_044699 rs121912658 RCV000129457 COSM1709736 COSM1522474 COSM44827 COSM1522473 CA000130 |
120 | K>E | sporadic cancers; somatic mutation lung ovary large_intestine Hereditary cancer-predisposing syndrome skin breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000785255 rs1567555504 |
121 | S>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000494892 rs1555526495 |
122 | V>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1386833 RCV000129460 rs587781495 CA000134 RCV000206482 COSM1386832 RCV000581285 COSM1386834 |
122 | V>M | large_intestine Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
VAR_044705 COSM44188 CA397844286 RCV000572422 rs1555526486 |
123 | T>I | a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome central_nervous_system [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1267047192 RCV000785247 |
124 | C>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397844214 rs1555526478 COSM326717 RCV000541004 COSM326718 COSM3388232 COSM326716 COSM3388233 |
124 | C>* | lung ovary pancreas breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000217878 CA10580945 COSM293345 COSM43569 rs730881997 VAR_044707 COSM293346 |
124 | C>G | a sporadic cancer; somatic mutation oesophagus large_intestine Hereditary cancer-predisposing syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000574455 VAR_044709 rs730881997 COSM44885 RCV000161022 CA000138 |
124 | C>S | sporadic cancers; somatic mutation ovary Hereditary cancer-predisposing syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001056387 rs2073448940 |
125 | T>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000425663 RCV000426240 RCV000427801 RCV000436943 RCV000442723 RCV000197507 RCV000420405 RCV000438784 rs786201057 RCV000433115 RCV000430953 RCV000437594 RCV000421753 RCV000443241 RCV000443320 RCV000422366 RCV000433745 VAR_044713 RCV000441651 COSM326725 RCV000423507 COSM326726 CA337257 COSM44073 RCV000420607 RCV000431571 RCV000430716 |
125 | T>K | Adrenal cortex carcinoma upper_aerodigestive_tract Carcinoma of esophagus Renal cell carcinoma, papillary, 1 Ovarian serous cystadenocarcinoma Small cell lung carcinoma Glioblastoma Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine Acute myeloid leukemia Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000420028 RCV000426825 RCV000421688 RCV000438666 COSM1750374 RCV000576336 RCV000433024 RCV000425628 COSM3717682 RCV000417610 RCV000438105 COSM44988 RCV000442735 RCV000457119 RCV000436631 RCV000430781 RCV000427448 RCV000439150 rs786201057 RCV000237013 COSM168303 RCV000421040 RCV000443535 RCV000162461 RCV000428519 RCV000431915 COSM168302 CA000140 RCV000432405 RCV000419372 RCV000441098 VAR_005864 |
125 | T>M | Adrenal cortex carcinoma Ovarian serous cystadenocarcinoma Glioblastoma Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 Renal cell carcinoma, papillary, 1 Carcinoma of esophagus Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary Squamous cell lung carcinoma large_intestine prostate Acute myeloid leukemia Renal cell carcinoma, papillary, 1 (rccp1) Malignant melanoma of skin Li-Fraumeni syndrome Breast neoplasm [ClinVar, UniProt, Ensembl, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
COSM1646886 RCV000434566 rs1057520003 RCV000422630 RCV000427158 COSM707863 RCV000425049 RCV000428307 RCV000437835 COSM707862 RCV000418295 RCV000443332 RCV000439813 RCV000442101 RCV000432449 RCV000434887 COSM45368 RCV000417666 RCV000442185 RCV000426486 RCV000429194 CA16603081 RCV000423200 RCV000439620 RCV000433906 RCV000436394 VAR_044714 |
125 | T>P | Adrenal cortex carcinoma Carcinoma of esophagus Renal cell carcinoma, papillary, 1 Ovarian serous cystadenocarcinoma Small cell lung carcinoma Glioblastoma Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma lung Squamous cell carcinoma of the head and neck a sporadic cancer; somatic mutation Neoplasm of brain Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine Acute myeloid leukemia Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000442755 RCV000423368 RCV000440402 RCV000524926 RCV000419630 RCV000436088 RCV000442833 RCV000424026 RCV000430321 RCV000424710 CA16044089 RCV000434737 RCV000423812 rs786201057 RCV000425385 RCV000492090 RCV000428977 RCV000436638 RCV000432131 RCV000429727 RCV000442028 RCV000440628 RCV000436286 COSM45243 VAR_044715 RCV000419385 |
125 | T>R | Adrenal cortex carcinoma upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus Renal cell carcinoma, papillary, 1 Small cell lung carcinoma Hereditary cancer-predisposing syndrome Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma breast Acute myeloid leukemia Renal cell carcinoma, papillary, 1 (rccp1) Malignant melanoma of skin Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
rs1567554542 RCV000785318 |
126 | Y>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM10888 COSM3723942 COSM99946 CA397843943 COSM2744959 RCV000702157 rs1567554500 COSM99944 COSM10862 |
126 | Y>* | upper_aerodigestive_tract oesophagus urinary_tract stomach breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA397843956 rs1555526335 COSM11517 COSM1480082 COSM3388228 VAR_044716 COSM1480081 COSM1731759 RCV000547041 |
126 | Y>C | lung upper_aerodigestive_tract NS pancreas central_nervous_system a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM220782 RCV000255685 RCV000568595 COSM220783 COSM43900 RCV000705124 COSM2744964 VAR_005865 COSM3388356 CA10588672 rs886039483 |
126 | Y>D | sporadic cancers; somatic mutation lung pancreas oesophagus Hereditary cancer-predisposing syndrome central_nervous_system prostate haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA397843963 VAR_005866 COSM1480084 RCV000492304 COSM44380 rs886039483 COSM1480085 |
126 | Y>N | sporadic cancers; somatic mutation lung oesophagus large_intestine Hereditary cancer-predisposing syndrome central_nervous_system haematopoietic_and_lymphoid_tissue breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM562619 rs730881999 CA349567 RCV000205404 VAR_044720 COSM562618 COSM1649368 COSM45483 |
127 | S>C | lung a sporadic cancer; somatic mutation breast Li-Fraumeni syndrome [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1597371657 RCV001021263 CA397843895 RCV001873342 COSM45131 |
128 | P>L | Hereditary cancer-predisposing syndrome central_nervous_system prostate breast Li-Fraumeni syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1555526327 RCV000569462 CA397843906 RCV000633349 |
128 | P>T | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA397842985 RCV000557322 COSM45976 rs137852792 |
129 | A>G | large_intestine Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
CA397842991 rs1438095083 RCV001021309 RCV001861015 |
129 | A>S | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
COSM44966 VAR_044728 RCV000567140 CA397842995 rs1438095083 |
129 | A>T | sporadic cancers; somatic mutation upper_aerodigestive_tract Hereditary cancer-predisposing syndrome breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
rs137852792 VAR_044729 CA000150 RCV000119793 COSM44550 |
129 | A>V | sporadic cancers; somatic mutation lung Familial cancer of breast stomach [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
RCV001184119 rs2073401137 |
130 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000200055 COSM1649369 CA339065 COSM3403293 COSM247951 rs863224683 COSM247950 VAR_044730 COSM11449 RCV000571787 |
130 | L>F | sporadic cancers; somatic mutation lung oesophagus pancreas large_intestine Hereditary cancer-predisposing syndrome urinary_tract skin central_nervous_system prostate breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM1640873 COSM1640872 COSM4139892 COSM46114 COSM1640874 CA397842952 rs1131691013 RCV001021383 |
130 | L>H | ovary Hereditary cancer-predisposing syndrome urinary_tract stomach haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
VAR_044733 COSM45481 COSM2152867 RCV000492142 COSM3403292 COSM2152866 CA397842949 COSM2152865 rs1131691013 |
130 | L>P | sporadic cancers; somatic mutation genital_tract Hereditary cancer-predisposing syndrome central_nervous_system haematopoietic_and_lymphoid_tissue breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000565366 rs863224683 CA287488714 VAR_044734 COSM1728015 COSM437616 RCV000759374 RCV000536061 COSM437617 COSM11462 |
130 | L>V | sporadic cancers; somatic mutation ovary upper_aerodigestive_tract liver oesophagus large_intestine Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA002656 COSM45978 RCV000492741 VAR_005872 COSM44291 RCV000465360 RCV000236166 RCV001762559 rs769270327 |
131 | N>K | sporadic cancers; somatic mutation oesophagus large_intestine Hereditary cancer-predisposing syndrome Familial cancer of breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000130751 VAR_044739 rs587782160 COSM43533 CA000154 |
131 | N>Y | sporadic cancers; somatic mutation ovary liver large_intestine Hereditary cancer-predisposing syndrome urinary_tract [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000571560 rs879254214 RCV000236200 |
131 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567554408 RCV000785315 |
131 | N>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397842926 COSM213374 COSM3717675 VAR_044737 COSM213373 RCV000492742 COSM44794 rs1131691037 COSM3717676 |
131 | N>I | sporadic cancers; somatic mutation liver pancreas Hereditary cancer-predisposing syndrome urinary_tract central_nervous_system breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000166969 rs786203589 |
132 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA002647 COSM3820725 RCV000430828 RCV000426379 COSM10813 RCV000434893 RCV000468362 RCV000435981 RCV000417874 COSM437610 VAR_044740 rs747342068 RCV000431096 RCV000417803 RCV000433855 RCV000436180 RCV000425237 RCV000562533 RCV000440656 COSM437609 RCV000441816 RCV000423644 RCV000442199 COSM1649370 RCV000428580 RCV000444903 |
132 | K>E | Adrenal cortex carcinoma upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Glioblastoma Multiple myeloma central_nervous_system Lung adenocarcinoma Neoplasm of brain Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus biliary_tract Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary Squamous cell lung carcinoma LFS; germline mutation and in sporadic cancers; somatic mutation breast Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000426255 VAR_005873 RCV000428123 RCV000426873 RCV000439874 RCV000421596 rs1057519996 RCV000546420 RCV000428765 RCV000424301 RCV000434568 RCV000441135 RCV000418722 RCV000442900 RCV000433916 RCV000438364 RCV000431846 RCV000418504 RCV000437107 CA16603048 COSM43592 |
132 | K>M | Adrenal cortex carcinoma upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Glioblastoma Multiple myeloma skin Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus urinary_tract bone Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma prostate Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000442734 VAR_044741 RCV000432417 RCV000437720 COSM1750373 RCV000432219 RCV000427056 COSM301221 RCV000421516 RCV000440843 RCV000442346 CA16603044 rs866775781 RCV000439834 RCV000439586 COSM3726808 COSM301220 COSM43963 COSM213187 COSM213186 RCV000419339 COSM3403291 RCV000424592 RCV000422634 RCV000430184 RCV000434424 COSM10991 COSM2157115 RCV000709407 RCV000430063 |
132 | K>N | Adrenal cortex carcinoma Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Multiple myeloma Glioblastoma central_nervous_system skin Lung adenocarcinoma sporadic cancers; somatic mutation kidney Neoplasm of brain pancreas Pancreatic adenocarcinoma penis Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus liver adrenal_gland urinary_tract Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma large_intestine breast Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000419400 RCV000429238 RCV000434062 RCV000422568 RCV000427528 RCV000442639 VAR_005874 RCV000439934 COSM1716890 rs747342068 RCV000436873 RCV000427319 COSM3388225 COSM1716889 COSM11224 RCV000438684 RCV000432114 RCV000440130 RCV000419226 RCV000442713 CA16603047 RCV000432840 RCV000421029 COSM1716888 |
132 | K>Q | Adrenal cortex carcinoma upper_aerodigestive_tract Carcinoma of esophagus Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Glioblastoma Multiple myeloma skin Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary Neoplasm of brain pancreas Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma prostate Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
COSM308310 RCV000429251 RCV000419619 RCV000436660 RCV000429087 RCV000419418 COSM308311 RCV000418417 RCV000441520 VAR_044742 rs1057519996 RCV000426827 COSM3388223 RCV000436453 RCV000434074 COSM1646844 RCV000428190 RCV000443007 RCV000471183 COSM11582 RCV000438897 CA16603045 RCV000423130 RCV000424246 RCV000421674 |
132 | K>R | Adrenal cortex carcinoma upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Glioblastoma Multiple myeloma central_nervous_system Lung adenocarcinoma sporadic cancers; somatic mutation kidney Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus biliary_tract liver endometrium Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma large_intestine prostate breast Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000437675 RCV000442106 RCV000435461 RCV000433123 VAR_044743 RCV000427017 COSM179832 RCV000420694 RCV000433243 CA16603046 COSM179831 RCV000430299 COSM2744954 COSM43912 RCV000443063 rs1057519996 RCV000423393 RCV000422403 RCV000419605 RCV000442467 COSM3388224 RCV000437910 RCV000424547 RCV000425633 |
132 | K>T | Adrenal cortex carcinoma Carcinoma of esophagus Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Glioblastoma Multiple myeloma central_nervous_system Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary Neoplasm of brain pancreas Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine breast Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
rs1597371512 RCV001021591 |
133 | M>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM44624 RCV000484833 VAR_044744 CA16620633 rs1064795139 COSM44206 RCV000662907 |
133 | M>I | sporadic cancers; somatic mutation liver breast Li-Fraumeni syndrome 1 [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
COSM1640867 RCV000492130 COSM3712458 COSM1640869 COSM43723 RCV000013151 COSM1640868 CA000158 rs28934873 VAR_005875 |
133 | M>T | upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) liver Hereditary cancer-predisposing syndrome stomach haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation Li-Fraumeni syndrome 1 [Cosmic, Ensembl, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM43950 RCV000633342 VAR_044748 CA287488692 rs1057280220 |
133 | M>V | sporadic cancers; somatic mutation large_intestine Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
|
COSM43949 COSM1582362 RCV000656580 CA002638 COSM1582361 RCV000214547 COSM4139891 rs780442292 VAR_044749 COSM4139890 |
134 | F>C | sporadic cancers; somatic mutation ovary upper_aerodigestive_tract large_intestine Hereditary cancer-predisposing syndrome central_nervous_system stomach haematopoietic_and_lymphoid_tissue breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
rs267605077 CA397842840 RCV000565274 |
134 | F>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555526278 RCV001091170 RCV001862690 |
134 | F>L | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699849 COSM11319 COSM1726293 COSM45167 COSM44654 COSM220774 VAR_036504 COSM220775 rs267605077 CA287488689 |
134 | F>L | sporadic cancers; somatic mutation lung ovary liver pancreas oesophagus large_intestine haematopoietic_and_lymphoid_tissue breast vulva Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1131691036 RCV000492493 |
135 | C>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781991 RCV000436440 RCV000417503 RCV000444308 COSM10647 RCV000438861 VAR_005877 RCV000418582 RCV000428180 RCV000426876 RCV000427781 COSM2744945 RCV000492398 COSM303849 COSM3820723 COSM303850 RCV000444605 RCV000436707 CA16602985 RCV000434318 RCV000435797 RCV000425788 |
135 | C>F | Adrenal cortex carcinoma upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation kidney Neoplasm of brain Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue pituitary Carcinoma of esophagus liver Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung eye ovary oesophagus Squamous cell lung carcinoma large_intestine prostate breast Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000570655 COSM1645412 COSM3937614 RCV000785515 RCV000437581 RCV000438642 rs1057519975 RCV000423071 COSM1645411 RCV000432330 CA16602989 RCV000418158 RCV000991142 RCV000433361 COSM1645410 VAR_044753 RCV000422074 RCV000420954 RCV000428411 RCV000444598 RCV000445231 COSM44829 RCV000429525 RCV000439732 |
135 | C>G | Adrenal cortex carcinoma Carcinoma of esophagus Ovarian serous cystadenocarcinoma Hereditary cancer-predisposing syndrome central_nervous_system Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain oesophagus Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma penis Neoplasm of ovary Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
VAR_044754 RCV000441192 RCV000422903 RCV000434656 RCV000444209 rs1057519975 RCV000444995 RCV000440105 RCV000423943 COSM308319 CA16602986 COSM3820724 RCV000426036 RCV000425388 COSM10684 RCV000432610 COSM2744947 RCV000430504 RCV000433604 COSM308318 RCV000418091 |
135 | C>R | Adrenal cortex carcinoma upper_aerodigestive_tract Carcinoma of esophagus biliary_tract Ovarian serous cystadenocarcinoma skin Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation ovary Neoplasm of brain Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000422226 RCV000426276 COSM300819 COSM44643 COSM300818 COSM3932747 RCV000426947 rs1057519975 RCV000424613 COSM1750372 RCV000432917 RCV000430830 RCV000444857 RCV000420576 RCV000438245 RCV000444883 RCV000431837 CA16602988 VAR_005876 COSM44910 RCV000443653 RCV000437180 |
135 | C>S | Adrenal cortex carcinoma Carcinoma of esophagus Ovarian serous cystadenocarcinoma urinary_tract skin central_nervous_system Hepatocellular carcinoma bone Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM1640866 RCV000423274 RCV000440498 RCV000439451 RCV000420220 COSM437602 RCV000420893 RCV000432245 RCV000479510 RCV000556410 RCV000429841 VAR_044755 RCV000441628 RCV000434979 COSM437601 RCV000424924 CA16602987 COSM44219 RCV000430892 rs1057519976 RCV000417767 RCV000435704 |
135 | C>W | Adrenal cortex carcinoma upper_aerodigestive_tract Carcinoma of esophagus Ovarian serous cystadenocarcinoma urinary_tract central_nervous_system Hepatocellular carcinoma stomach Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation ovary Neoplasm of brain oesophagus Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma prostate Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM3691869 rs587781991 RCV000431855 RCV000430048 CA000160 RCV000429447 RCV000419337 VAR_044756 COSM99598 RCV000421166 RCV000438381 COSM2744946 RCV000130396 RCV000437052 RCV000444676 COSM99601 RCV000581322 COSM10801 RCV000428748 RCV000419825 RCV000423651 RCV000422242 RCV000439440 |
135 | C>Y | Adrenal cortex carcinoma upper_aerodigestive_tract Ovarian serous cystadenocarcinoma central_nervous_system skin Hepatocellular carcinoma stomach Lung adenocarcinoma Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus liver Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung ovary thyroid sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP oesophagus Squamous cell lung carcinoma large_intestine autonomic_ganglia prostate breast Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
VAR_005878 COSM43767 rs1555526268 CA397842769 COSM437597 RCV000572692 COSM2153121 COSM437598 COSM3403290 |
136 | Q>E | sporadic cancers; somatic mutation lung Hereditary cancer-predisposing syndrome central_nervous_system endometrium stomach breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000571644 COSM45743 COSM45929 CA397842744 rs758781593 VAR_044757 |
136 | Q>H | sporadic cancers; somatic mutation lung upper_aerodigestive_tract biliary_tract Hereditary cancer-predisposing syndrome prostate haematopoietic_and_lymphoid_tissue [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA000162 COSM45743 COSM45929 rs758781593 RCV000165874 RCV000229644 |
136 | Q>H | lung upper_aerodigestive_tract biliary_tract Hereditary cancer-predisposing syndrome prostate haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000704458 COSM45089 CA397842763 rs1567554216 |
136 | Q>P | ovary upper_aerodigestive_tract urinary_tract Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA397842699 RCV000633392 rs750600586 |
138 | A>D | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM2744944 RCV000461233 rs28934875 COSM11188 RCV000013175 COSM129860 COSM129861 COSM4139889 CA000166 VAR_005881 |
138 | A>P | lung ovary upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) oesophagus haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation breast Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Cosmic, Ensembl, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM3421938 COSM43818 COSM288785 COSM288784 RCV000164195 VAR_033034 rs750600586 COSM3421939 CA000168 |
138 | A>V | lung ovary liver large_intestine Hereditary cancer-predisposing syndrome endometrium soft_tissue stomach sporadic cancers; somatic mutation; no effect on susceptibility to calpain haematopoietic_and_lymphoid_tissue breast [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
rs137852794 RCV000119794 |
139 | K>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1212996409 COSM3958849 COSM44678 CA397842678 COSM3958848 COSM1172502 RCV000785252 COSM1172501 |
139 | K>* | lung oesophagus skin Neoplasm of ovary [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
COSM1303397 CA397842652 COSM44220 rs1567554121 COSM3356972 RCV000709406 COSM3356969 COSM1303398 COSM3356970 COSM44101 COSM3356971 |
139 | K>N | lung ovary upper_aerodigestive_tract urinary_tract skin haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM46277 rs786202561 VAR_044772 CA000172 RCV000165423 |
140 | T>N | biliary_tract a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV001047952 rs2073394466 |
141 | C>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555526250 RCV000504610 |
141 | C>missing | Breast neoplasm [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000433302 RCV000435499 RCV000418478 RCV000445236 RCV000425219 RCV000437866 RCV000429427 rs587781288 RCV000427605 RCV000444376 COSM44911 RCV000417404 VAR_005885 RCV000423030 COSM1559492 COSM1559491 CA16602994 RCV000436176 |
141 | C>F | Malignant neoplasm of body of uterus Renal cell carcinoma, papillary, 1 Multiple myeloma urinary_tract central_nervous_system Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation Squamous cell carcinoma of the head and neck Neoplasm of brain Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Acute myeloid leukemia Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000444521 VAR_005884 RCV000432969 RCV000436820 RCV000444835 RCV000437911 RCV000438636 RCV000419137 RCV000426677 COSM3672590 COSM3672591 RCV000425541 RCV000427661 rs1057519978 COSM45794 RCV000420961 COSM3672589 RCV000432339 COSM3672592 CA16602992 |
141 | C>G | Malignant neoplasm of body of uterus Renal cell carcinoma, papillary, 1 Multiple myeloma Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation Squamous cell carcinoma of the head and neck ovary Neoplasm of brain Squamous cell lung carcinoma Pancreatic adenocarcinoma prostate Neoplasm of the large intestine Acute myeloid leukemia Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm [ClinVar, UniProt, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000437414 RCV001861481 RCV000420817 COSM43901 CA16602991 rs1057519978 COSM290855 RCV000431037 RCV000441312 COSM1738320 RCV000432161 RCV000419723 RCV000425407 VAR_044775 RCV000440220 COSM290854 RCV000430017 RCV000423623 RCV000418678 RCV000436190 |
141 | C>R | Malignant neoplasm of body of uterus Renal cell carcinoma, papillary, 1 biliary_tract Multiple myeloma central_nervous_system Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation Squamous cell carcinoma of the head and neck ovary Neoplasm of brain oesophagus Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma prostate Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Acute myeloid leukemia Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000439533 VAR_044776 COSM293911 RCV000422574 RCV000433900 COSM44564 RCV000417913 rs1057519978 RCV000432852 RCV000439057 RCV000438490 RCV000420314 RCV000430556 COSM293912 CA16602993 COSM293910 RCV000428237 RCV000421892 RCV000442038 |
141 | C>S | Malignant neoplasm of body of uterus Renal cell carcinoma, papillary, 1 Multiple myeloma urinary_tract Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation Squamous cell carcinoma of the head and neck Neoplasm of brain Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma prostate Neoplasm of the large intestine Acute myeloid leukemia Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000434797 RCV000442353 RCV000444942 RCV000467641 RCV000492201 RCV000425931 COSM2744942 RCV000430241 VAR_044777 RCV000424802 CA16602990 COSM3388220 RCV000422816 RCV000434169 COSM44204 RCV000423924 RCV000445034 RCV000440499 COSM707864 RCV000431589 rs1057519977 COSM707865 |
141 | C>W | Malignant neoplasm of body of uterus upper_aerodigestive_tract Multiple myeloma Lung adenocarcinoma sporadic cancers; somatic mutation kidney Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 liver Hereditary cancer-predisposing syndrome Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary Squamous cell lung carcinoma large_intestine breast Acute myeloid leukemia Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM43708 COSM3378366 RCV000418811 COSM131470 RCV000423419 RCV000437920 RCV000436530 RCV000427068 rs587781288 RCV000428004 RCV000417795 RCV000427674 RCV000472876 COSM3378367 RCV000435449 RCV000444430 VAR_005886 COSM131471 RCV000429076 CA000174 RCV000128975 RCV000439333 |
141 | C>Y | Malignant neoplasm of body of uterus upper_aerodigestive_tract Multiple myeloma central_nervous_system stomach testis Lung adenocarcinoma Neoplasm of brain pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 biliary_tract liver Hereditary cancer-predisposing syndrome endometrium urinary_tract bone Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary thyroid oesophagus Squamous cell lung carcinoma large_intestine prostate LFS; germline mutation and in sporadic cancers; somatic mutation breast Acute myeloid leukemia Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM44520 RCV001022134 rs1597371187 CA397842550 |
142 | P>S | Hereditary cancer-predisposing syndrome urinary_tract haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM98967 COSM1666839 COSM11306 CA397842518 COSM179830 COSM3388219 rs1555526241 RCV000991143 |
143 | V>A | lung ovary upper_aerodigestive_tract pancreas oesophagus large_intestine stomach breast vulva Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000562247 COSM44573 CA397842510 VAR_044785 rs1555526241 |
143 | V>G | sporadic cancers; somatic mutation large_intestine Hereditary cancer-predisposing syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM44904 COSM46033 RCV000165206 VAR_044786 CA000178 rs587782620 |
143 | V>L | sporadic cancers; somatic mutation lung upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) large_intestine Hereditary cancer-predisposing syndrome urinary_tract [UniProt, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV001265631 rs2073391946 |
144 | Q>missing | Colorectal cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000418508 RCV000430092 RCV000429945 rs786201419 RCV000435752 RCV000425946 COSM45961 COSM45076 COSM1522486 RCV000437256 RCV000441498 VAR_044788 CA16603065 COSM1522485 RCV000419148 RCV001753853 |
144 | Q>H | sporadic cancers; somatic mutation lung Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma large_intestine Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma haematopoietic_and_lymphoid_tissue breast Breast neoplasm [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
COSM43783 RCV000443744 CA16603064 RCV000435123 RCV000434521 COSM1522482 RCV000434320 RCV000443056 RCV000443135 VAR_044790 rs786203071 RCV000991148 RCV000425167 COSM1522481 RCV000423654 |
144 | Q>L | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma urinary_tract Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma lung Squamous cell carcinoma of the head and neck pancreas large_intestine haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000439853 RCV000428907 RCV000785331 CA000182 RCV000419105 COSM44205 COSM1630443 VAR_005888 COSM1630442 RCV000166212 RCV000422986 RCV000433977 RCV000440211 rs786203071 RCV000439592 RCV001850338 RCV000423271 |
144 | Q>P | Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma liver Hereditary cancer-predisposing syndrome Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck ovary Neoplasm of ovary breast Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
VAR_005889 RCV000130857 rs587782197 CA000188 COSM43899 |
145 | L>P | sporadic cancers; somatic mutation ovary oesophagus large_intestine Hereditary cancer-predisposing syndrome central_nervous_system urinary_tract prostate haematopoietic_and_lymphoid_tissue breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
COSM3378363 RCV000565971 COSM3378362 rs587782197 COSM3378361 COSM44137 CA397842430 RCV000785310 COSM3378360 RCV001537369 |
145 | L>Q | lung ovary upper_aerodigestive_tract pancreas oesophagus large_intestine Hereditary cancer-predisposing syndrome stomach prostate Neoplasm of ovary breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
COSM1158445 COSM131518 COSM1158446 COSM1649371 COSM43609 COSM10727 RCV000492181 COSM131517 COSM1640860 rs1131691026 RCV000633358 COSM3378359 CA397842363 |
146 | W>* | peritoneum upper_aerodigestive_tract biliary_tract NS liver adrenal_gland Hereditary cancer-predisposing syndrome central_nervous_system endometrium urinary_tract skin stomach lung ovary pancreas oesophagus large_intestine soft_tissue prostate haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM44555 RCV000166204 CA000190 rs786203064 RCV001527087 VAR_044796 |
146 | W>G | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome central_nervous_system Li-Fraumeni syndrome 1 [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1567553924 RCV000785251 |
147 | V>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_044803 rs1555526226 COSM43985 RCV000633361 CA397842353 |
147 | V>I | sporadic cancers; somatic mutation liver large_intestine haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1567553717 RCV000785241 |
148 | D>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_044804 CA287488644 rs1046611742 RCV000569500 |
148 | D>A | a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM44043 RCV000688311 CA397842309 rs1131691007 |
148 | D>N | large_intestine urinary_tract soft_tissue haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000492685 COSM45913 CA397842304 rs1131691007 VAR_044809 |
148 | D>Y | sporadic cancers; somatic mutation lung Hereditary cancer-predisposing syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000785335 rs1064793929 |
149 | S>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000481047 RCV000785501 rs1064793929 |
149 | S>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM44500 CA397842248 rs1555526214 VAR_044810 RCV000567597 |
149 | S>F | sporadic cancers; somatic mutation upper_aerodigestive_tract ovary thyroid Hereditary cancer-predisposing syndrome skin [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000131407 rs137852790 |
150 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064792930 RCV000582435 RCV000475282 |
150 | T>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000119795 rs137852790 |
150 | T>missing | Sarcoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000767320 rs137852791 RCV000119796 |
151 | P>missing | Sarcoma [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM99679 RCV000426471 COSM3717668 RCV000425371 VAR_005894 RCV000420971 COSM44944 RCV000418125 RCV000431059 CA16603058 RCV000420838 COSM3717669 RCV000436762 RCV000432886 RCV000459465 RCV000437396 RCV000441351 RCV000443299 rs28934874 RCV000431789 RCV000426064 RCV000438632 RCV000428371 RCV000443386 COSM99682 RCV000419693 |
151 | P>A | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Multiple myeloma Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus liver Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine breast Adenoid cystic carcinoma Breast neoplasm Malignant melanoma of skin Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV001022612 rs1597370899 CA915949541 |
151 | P>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000442618 VAR_044818 RCV000443403 RCV000428730 RCV000421293 COSM11476 COSM3388218 RCV000438983 RCV000444401 RCV000438265 RCV000432614 RCV000427300 CA16603056 RCV000428053 RCV000426285 COSM259150 rs1057520000 RCV000420222 RCV000440037 RCV000440518 COSM259149 RCV000423439 COSM2744918 RCV000633371 RCV000422381 RCV000433715 |
151 | P>H | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Multiple myeloma skin Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus liver urinary_tract Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine breast Adenoid cystic carcinoma Breast neoplasm Malignant melanoma of skin Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM707868 COSM4139888 COSM4139887 VAR_044820 CA16603057 COSM707869 RCV000421526 RCV000431352 RCV000633382 RCV000443101 RCV000440477 RCV000423715 RCV000430235 rs1057520000 RCV000435439 RCV000418846 RCV000435893 RCV000419958 RCV000425600 RCV000441608 RCV000419325 RCV000436541 COSM44003 RCV000424514 RCV000434196 RCV000439174 |
151 | P>R | Malignant neoplasm of body of uterus Carcinoma of esophagus Ovarian serous cystadenocarcinoma Multiple myeloma central_nervous_system urinary_tract Hepatocellular carcinoma stomach Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary Neoplasm of brain oesophagus Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine Adenoid cystic carcinoma Breast neoplasm Malignant melanoma of skin Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM3378358 VAR_005895 COSM984959 CA000200 rs28934874 COSM984961 COSM10905 COSM1640859 |
151 | P>S | upper_aerodigestive_tract biliary_tract NS liver endometrium urinary_tract skin central_nervous_system stomach vulva lung ovary thyroid pancreas oesophagus large_intestine soft_tissue prostate haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation breast [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
RCV000422094 VAR_005896 RCV000435159 COSM4070055 COSM121046 COSM4070056 RCV000440812 CA000198 RCV000428384 RCV000439740 RCV000443817 RCV000423161 RCV000013168 RCV000417493 RCV000424222 RCV000429500 RCV000520731 RCV000691152 rs28934874 RCV000437544 COSM43911 RCV000434485 COSM121047 RCV000428836 RCV000442802 RCV000130617 RCV000418145 RCV000425139 RCV000433405 |
151 | P>T | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Multiple myeloma central_nervous_system Hepatocellular carcinoma Lung adenocarcinoma Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus Breast adenocarcinoma Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine LFS; germline mutation and in sporadic cancers; somatic mutation Adenoid cystic carcinoma Breast neoplasm Li-Fraumeni syndrome Malignant melanoma of skin [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs876659215 RCV000220919 |
152 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567553834 RCV000785557 |
152 | P>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM129857 RCV001270267 VAR_005897 COSM3717667 RCV000132156 rs587782705 CA000204 RCV000755703 RCV000583667 COSM1645282 RCV000168122 RCV000677669 COSM10790 RCV001255632 COSM129856 |
152 | P>L | upper_aerodigestive_tract liver Lip and oral cavity carcinoma adrenal_gland Hereditary cancer-predisposing syndrome urinary_tract central_nervous_system Familial cancer of breast stomach vulva lung Squamous cell carcinoma of the head and neck oesophagus large_intestine soft_tissue prostate haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation breast Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM3403281 COSM3403279 CA002580 VAR_005898 COSM3403280 COSM43582 RCV000570923 rs767328513 COSM3403278 |
152 | P>S | sporadic cancers; somatic mutation lung upper_aerodigestive_tract pancreas large_intestine Hereditary cancer-predisposing syndrome central_nervous_system urinary_tract skin haematopoietic_and_lymphoid_tissue breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000561574 CA16620631 COSM43675 RCV000481578 VAR_044829 rs1064795860 |
153 | P>S | sporadic cancers; somatic mutation oesophagus Hereditary cancer-predisposing syndrome urinary_tract small_intestine haematopoietic_and_lymphoid_tissue [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1567553613 RCV000785244 |
153 | P>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730882019 RCV000161060 RCV000013155 RCV000766936 |
153 | P>missing | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567553658 RCV000785249 |
154 | G>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000231149 RCV000764147 COSM45622 CA002547 VAR_044832 RCV000662397 rs762846821 RCV000492535 |
154 | G>D | sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Adrenocortical carcinoma, hereditary pancreas Hereditary cancer-predisposing syndrome urinary_tract prostate breast Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [UniProt, Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs137852789 RCV000567683 CA397842125 RCV000690679 |
154 | G>R | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_044833 RCV000573570 RCV000206813 COSM43692 CA000206 RCV000119797 rs137852789 |
154 | G>S | sporadic cancers; somatic mutation lung cervix ovary Sarcoma oesophagus large_intestine Hereditary cancer-predisposing syndrome stomach Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000473602 COSM11218 COSM2152706 COSM3403277 CA16615709 VAR_044836 COSM213310 rs786202752 RCV000492645 RCV000506226 COSM213311 |
155 | T>N | lung upper_aerodigestive_tract ovary oesophagus large_intestine Hereditary cancer-predisposing syndrome central_nervous_system pleura LFS; germline mutation and in sporadic cancers; somatic mutation breast Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000165724 VAR_044838 COSM44545 COSM44815 CA000210 rs786202752 |
155 | T>S | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome urinary_tract soft_tissue [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000633345 rs1555526166 |
155 | T>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_005901 COSM117052 COSM117049 CA002539 RCV000534841 rs772683278 COSM44303 |
155 | T>A | sporadic cancers; somatic mutation lung ovary oesophagus central_nervous_system bone prostate Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000115721 RCV000213051 RCV000764146 VAR_044839 COSM3403272 COSM3403273 CA000214 COSM3403271 rs563378859 COSM3403274 RCV000409094 COSM46124 RCV000232885 |
156 | R>C | sporadic cancers; somatic mutation upper_aerodigestive_tract ovary Li-fraumeni syndrome 1 (lfs1) Adrenocortical carcinoma, hereditary Hereditary cancer-predisposing syndrome central_nervous_system Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [UniProt, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000213052 RCV000148908 CA000216 RCV000656987 COSM43739 RCV000115722 rs371524413 VAR_044841 |
156 | R>H | lung kidney upper_aerodigestive_tract large_intestine Hereditary cancer-predisposing syndrome stomach haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation breast Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
COSM2744905 RCV000785506 RCV001022886 COSM1522489 CA397842068 COSM1522490 COSM3712457 rs371524413 COSM10760 |
156 | R>P | lung kidney upper_aerodigestive_tract ovary biliary_tract oesophagus Hereditary cancer-predisposing syndrome central_nervous_system urinary_tract prostate Neoplasm of ovary breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000505579 CA397842041 VAR_044844 RCV000492393 rs1131691023 COSM45883 |
157 | V>A | sporadic cancers; somatic mutation Adrenal cortex carcinoma oesophagus Hereditary cancer-predisposing syndrome [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1131691023 COSM44329 CA397842047 RCV000561132 |
157 | V>D | upper_aerodigestive_tract biliary_tract oesophagus large_intestine Hereditary cancer-predisposing syndrome prostate breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1131691023 RCV001170827 |
157 | V>G | Breast and/or ovarian cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555526140 RCV000633331 |
157 | V>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3388217 RCV000566103 COSM10670 rs121912654 COSM1679513 CA000222 COSM131480 RCV000013147 COSM131481 VAR_005904 |
157 | V>F | upper_aerodigestive_tract thymus skin central_nervous_system Hepatocellular carcinoma stomach vulva sporadic cancers; somatic mutation kidney pancreas soft_tissue haematopoietic_and_lymphoid_tissue biliary_tract liver adrenal_gland Hereditary cancer-predisposing syndrome endometrium urinary_tract bone lung ovary oesophagus large_intestine prostate breast [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM43625 rs121912654 RCV000235399 RCV000528459 CA000220 VAR_012977 RCV000164816 |
157 | V>I | sporadic cancers; somatic mutation salivary_gland upper_aerodigestive_tract oesophagus Hereditary cancer-predisposing syndrome skin prostate vulva Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000785488 rs1567553514 |
158 | R>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000508084 COSM43848 COSM984954 RCV000533951 COSM3932746 CA000225 COSM984956 VAR_005905 COSM1750371 rs587780068 RCV000115723 |
158 | R>C | sporadic cancers; somatic mutation lung upper_aerodigestive_tract large_intestine Hereditary cancer-predisposing syndrome central_nervous_system endometrium urinary_tract soft_tissue haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
COSM1640853 RCV000130708 RCV000255654 RCV000496787 RCV000227859 CA000227 VAR_005907 COSM3378357 COSM10690 COSM220778 COSM220779 rs587782144 |
158 | R>H | upper_aerodigestive_tract biliary_tract liver NS Hereditary cancer-predisposing syndrome central_nervous_system urinary_tract stomach lung kidney Li-fraumeni syndrome 1 (lfs1) thyroid pancreas oesophagus large_intestine prostate soft_tissue haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation breast Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000688595 COSM10714 rs1567553501 CA645589033 |
158 | R>L | lung upper_aerodigestive_tract thymus thyroid liver oesophagus central_nervous_system urinary_tract soft_tissue haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs587782144 COSM10714 RCV000633348 CA397842028 |
158 | R>L | thymus upper_aerodigestive_tract liver urinary_tract central_nervous_system lung Li-fraumeni syndrome 1 (lfs1) thyroid oesophagus soft_tissue haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
COSM1649377 CA10584592 RCV000236862 RCV000548853 VAR_044848 COSM1649375 COSM43615 COSM1649376 rs587782144 |
158 | R>P | sporadic cancers; somatic mutation lung ovary upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) pancreas oesophagus central_nervous_system Li-Fraumeni syndrome [UniProt, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
VAR_044856 CA397842017 rs1555526131 COSM11148 COSM288919 COSM288920 RCV000527533 COSM3388216 COSM2744893 |
159 | A>V | liver urinary_tract endometrium skin stomach sporadic cancers; somatic mutation lung ovary oesophagus pancreas large_intestine prostate haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM1610861 CA002482 COSM43891 COSM1610860 COSM3717666 COSM45674 RCV000485502 rs772354334 RCV000542402 COSM3717665 COSM45732 RCV000218200 VAR_005908 |
160 | M>I | sporadic cancers; somatic mutation lung liver large_intestine Hereditary cancer-predisposing syndrome skin urinary_tract Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_044859 COSM44328 RCV000513585 CA397841976 RCV000570720 rs377274728 |
160 | M>V | sporadic cancers; somatic mutation biliary_tract Hereditary cancer-predisposing syndrome prostate stomach breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000013180 rs863223301 RCV000013179 |
161 | A>missing | Choroid plexus papilloma Bone osteosarcoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064795691 COSM318160 RCV000552464 RCV000481512 VAR_044860 COSM11323 CA16620630 COSM318159 |
161 | A>D | sporadic cancers; somatic mutation lung cervix ovary upper_aerodigestive_tract large_intestine central_nervous_system breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000149053 RCV000214033 COSM249095 COSM249094 rs193920817 COSM10739 COSM3378356 RCV000161027 RCV000473543 VAR_044863 COSM2744887 CA000234 RCV000761073 |
161 | A>T | upper_aerodigestive_tract central_nervous_system skin stomach small_intestine sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) pancreas haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 meninges peritoneum liver Hereditary cancer-predisposing syndrome urinary_tract endometrium lung ovary Malignant tumor of prostate thyroid oesophagus large_intestine prostate breast Li-Fraumeni syndrome [Cosmic, UniProt, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1597370312 RCV001023164 |
163 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000436926 COSM129852 COSM10808 COSM3388214 COSM1649381 RCV000434251 RCV000424864 RCV000434917 RCV000526324 RCV000427698 RCV000419946 RCV000785334 RCV000115725 RCV000442798 RCV000443742 RCV000492788 COSM129853 VAR_033035 CA000240 RCV000430191 RCV000423543 RCV000429510 rs148924904 RCV000419252 RCV000435593 RCV000443833 |
163 | Y>C | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma central_nervous_system Hepatocellular carcinoma stomach Lung adenocarcinoma Neoplasm of brain pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus biliary_tract Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome urinary_tract endometrium lung salivary_gland Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma large_intestine prostate Neoplasm of ovary LFS; germline mutation and in sporadic cancers; somatic mutation breast Malignant melanoma of skin Breast neoplasm Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000166739 RCV000424608 RCV000420721 RCV000425235 RCV000432709 RCV000417885 rs786203436 COSM226790 RCV001850353 RCV000433509 RCV000430982 VAR_044869 CA000239 RCV000434903 RCV000435516 RCV000420162 RCV000426124 COSM44216 RCV000444147 RCV000443587 RCV000441262 COSM226791 |
163 | Y>D | Carcinoma of esophagus Ovarian serous cystadenocarcinoma Small cell lung carcinoma Hereditary cancer-predisposing syndrome skin Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Neoplasm of brain Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000431265 RCV000428451 COSM1522498 RCV000436639 RCV000441609 COSM43846 RCV000440924 rs786203436 RCV000418859 RCV000434193 RCV000423239 RCV000438678 CA16603094 RCV000435900 RCV000423893 RCV000418221 COSM1522497 VAR_005912 RCV000417511 RCV000425645 |
163 | Y>H | upper_aerodigestive_tract Carcinoma of esophagus Ovarian serous cystadenocarcinoma Small cell lung carcinoma liver skin Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary Neoplasm of brain oesophagus Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma prostate Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Breast neoplasm Malignant melanoma of skin [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA16603093 RCV000439742 RCV000437297 COSM44623 RCV000421406 RCV000434430 RCV000426404 rs786203436 RCV000431660 COSM3717661 RCV000444003 RCV000443877 RCV000427021 RCV000633347 RCV000424159 RCV000422095 VAR_044871 COSM307267 COSM307268 RCV000428833 RCV000443298 COSM3717662 RCV000439053 |
163 | Y>N | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma central_nervous_system Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus biliary_tract Small cell lung carcinoma liver adrenal_gland lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine breast Li-Fraumeni syndrome Malignant melanoma of skin Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV001204080 rs879254249 |
164 | K>* | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10584591 COSM3820721 COSM2153638 COSM10762 COSM707873 VAR_044873 RCV000235745 rs879254249 RCV000541487 COSM707872 |
164 | K>E | sporadic cancers; somatic mutation ovary liver large_intestine central_nervous_system urinary_tract breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000492698 COSM11369 COSM1194556 VAR_005913 COSM1194557 CA397841890 rs1131691034 |
164 | K>N | sporadic cancers; somatic mutation lung upper_aerodigestive_tract oesophagus Hereditary cancer-predisposing syndrome central_nervous_system breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
rs1567553215 RCV000703049 CA891843546 |
164 | K>N* | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1172489 RCV000161028 COSM1172488 COSM3388213 COSM3388212 RCV000219202 RCV000633373 COSM43632 rs730882001 CA000243 |
165 | Q>* | upper_aerodigestive_tract Hereditary cancer-predisposing syndrome skin urinary_tract salivary_gland lung ovary oesophagus pancreas large_intestine soft_tissue haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs730882001 RCV000573450 CA397841869 |
165 | Q>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM11508 COSM369074 rs1555526101 RCV000785317 COSM1649382 COSM369075 COSM44467 CA397841830 |
166 | S>* | lung upper_aerodigestive_tract ovary liver oesophagus large_intestine urinary_tract Neoplasm of ovary haematopoietic_and_lymphoid_tissue breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
VAR_005917 RCV000633333 rs1555526101 COSM44289 COSM1386810 CA397841829 COSM1386809 |
166 | S>L | sporadic cancers; somatic mutation lung oesophagus large_intestine haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1597370230 RCV001023096 |
167 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567553148 RCV000686348 |
167 | Q>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM11333 COSM3937613 CA397841811 RCV000657587 COSM121081 COSM2744872 COSM121082 RCV000663165 rs1555526097 RCV000633353 |
167 | Q>* | lung upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) liver oesophagus large_intestine urinary_tract soft_tissue haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA397841806 RCV000580182 rs1319163924 |
167 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM3388209 VAR_005918 COSM3388207 RCV000702915 rs867114783 RCV000492442 COSM43545 COSM3388206 COSM3388208 CA287488569 |
168 | H>R | Hereditary cancer-predisposing syndrome central_nervous_system endometrium stomach sporadic cancers; somatic mutation lung ovary pancreas oesophagus large_intestine soft_tissue haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA397841700 rs1567553114 RCV000689187 |
169 | M>R | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000567372 RCV000759376 rs1555526082 |
170 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA000244 VAR_044896 COSM45836 RCV000123097 rs587780729 |
170 | T>A | sporadic cancers; somatic mutation skin Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA000246 RCV000478196 COSM44552 VAR_005921 RCV000206777 RCV000662787 rs779000871 RCV000163119 |
170 | T>M | sporadic cancers; somatic mutation upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) large_intestine Hereditary cancer-predisposing syndrome central_nervous_system skin stomach haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [UniProt, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000580691 RCV000986052 rs779000871 CA287488567 |
170 | T>R | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1597370110 RCV000793362 |
171 | E>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130145 CA000249 rs587781845 RCV000168226 RCV000480730 COSM417965 COSM44312 VAR_044902 COSM417964 |
171 | E>K | sporadic cancers; somatic mutation lung oesophagus Hereditary cancer-predisposing syndrome urinary_tract endometrium stomach haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA397841553 rs1131691021 RCV000633341 COSM44996 |
172 | V>A | prostate haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
VAR_044906 rs1131691043 COSM3378355 CA397841576 COSM44240 COSM3378354 RCV000492688 COSM354840 COSM354839 |
172 | V>F | lung ovary liver oesophagus pancreas large_intestine Hereditary cancer-predisposing syndrome urinary_tract LFS; germline mutation and in sporadic cancers; somatic mutation breast [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
VAR_044907 CA397841550 RCV000492745 rs1131691021 COSM45047 |
172 | V>G | sporadic cancers; somatic mutation liver Hereditary cancer-predisposing syndrome central_nervous_system stomach [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA397841571 rs1131691043 RCV001023618 COSM43955 |
172 | V>I | oesophagus large_intestine Hereditary cancer-predisposing syndrome urinary_tract haematopoietic_and_lymphoid_tissue breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs786202514 RCV000165358 |
173 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000426247 COSM44327 RCV000439921 RCV000419648 RCV000438619 RCV000428561 RCV000430991 COSM1630439 RCV000421990 RCV000430804 RCV000437348 RCV000437553 RCV000445170 RCV000438785 CA16602486 RCV000420735 COSM1630438 RCV000432237 rs1057519747 VAR_044909 RCV000420982 RCV000436282 |
173 | V>A | Malignant neoplasm of body of uterus Adrenal cortex carcinoma Carcinoma of esophagus biliary_tract Ovarian serous cystadenocarcinoma Small cell lung carcinoma liver central_nervous_system Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck Neoplasm of brain Pancreatic adenocarcinoma prostate Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Acute myeloid leukemia Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA16603083 RCV000435883 RCV000421130 RCV000420346 RCV000443047 RCV000430605 RCV000419351 VAR_005924 RCV000441782 RCV000574130 RCV000582350 RCV000425654 RCV000443122 COSM1172485 rs1057519747 COSM45731 RCV000442089 RCV000431387 COSM1172484 RCV000425882 RCV000437016 RCV000430481 RCV000437139 |
173 | V>E | Malignant neoplasm of body of uterus Adrenal cortex carcinoma Carcinoma of esophagus Ovarian serous cystadenocarcinoma Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Squamous cell carcinoma of the head and neck Neoplasm of brain oesophagus large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000419153 RCV000437220 RCV000430527 RCV000418455 RCV000445056 RCV000441421 RCV000421182 RCV000429875 VAR_044910 RCV000424145 RCV000432754 RCV000429147 COSM44383 RCV000426044 rs1057519747 CA16602485 RCV000441241 RCV000421399 RCV000442290 RCV000432060 |
173 | V>G | Malignant neoplasm of body of uterus Adrenal cortex carcinoma upper_aerodigestive_tract Carcinoma of esophagus Ovarian serous cystadenocarcinoma Small cell lung carcinoma endometrium central_nervous_system Hepatocellular carcinoma bone Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Squamous cell carcinoma of the head and neck Neoplasm of brain oesophagus large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Acute myeloid leukemia Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000427345 RCV000433209 COSM121042 COSM3723936 RCV000417683 VAR_005925 COSM43559 RCV000421780 COSM99638 RCV000427493 RCV000423312 COSM3723937 RCV000434691 RCV000694763 COSM44057 CA16603082 RCV000439916 RCV000440549 COSM121043 RCV000442009 COSM99641 RCV000428483 RCV000438383 rs876660754 RCV000432458 RCV000443390 RCV000429213 |
173 | V>L | Malignant neoplasm of body of uterus Adrenal cortex carcinoma upper_aerodigestive_tract Ovarian serous cystadenocarcinoma skin central_nervous_system Hepatocellular carcinoma stomach Lung adenocarcinoma vulva sporadic cancers; somatic mutation kidney Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus biliary_tract Small cell lung carcinoma liver endometrium Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary oesophagus large_intestine breast Li-Fraumeni syndrome Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000440133 RCV000429546 RCV000214341 RCV000435180 COSM121041 COSM2744864 RCV000423333 CA10577579 RCV000439338 RCV000418768 RCV000429913 RCV000441217 RCV000477355 RCV000433605 RCV000223396 RCV000785308 VAR_005926 RCV000418173 COSM11084 RCV000424469 RCV000423542 RCV000435365 rs876660754 COSM3388205 RCV001255635 COSM98964 RCV000434638 RCV000418817 |
173 | V>M | Malignant neoplasm of body of uterus Adrenal cortex carcinoma upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Lip and oral cavity carcinoma skin central_nervous_system Hepatocellular carcinoma stomach Lung adenocarcinoma Neoplasm of brain pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine pleura haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome urinary_tract bone Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary oesophagus large_intestine Neoplasm of ovary LFS; germline mutation and in sporadic cancers; somatic mutation breast Breast neoplasm Li-Fraumeni syndrome Malignant melanoma of skin [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM43763 VAR_044911 CA349281 rs864622115 RCV000205095 |
174 | R>G | prostate LFS; germline mutation and in a sporadic cancer; somatic mutation Li-Fraumeni syndrome [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000423061 COSM179827 RCV000427794 COSM3691867 COSM3691866 RCV000439855 RCV000439251 RCV000429015 RCV000418017 RCV000434308 RCV000444463 RCV000417778 RCV000439625 RCV000704159 RCV000429222 RCV000422641 COSM43680 RCV000574439 RCV000442812 RCV000785238 RCV000421969 COSM179826 RCV000433333 RCV000435664 RCV000433090 RCV000235329 RCV000424499 CA002442 RCV000426785 rs138729528 RCV000438017 RCV000418929 RCV000440307 VAR_005928 |
175 | R>C | Malignant neoplasm of body of uterus Medulloblastoma (mdb) Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system Hepatocellular carcinoma B-cell chronic lymphocytic leukemia stomach Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine cervix Carcinoma of esophagus Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma salivary_gland lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma oesophagus Medulloblastoma Squamous cell lung carcinoma large_intestine Nasopharyngeal neoplasm Neoplasm of ovary Li-Fraumeni syndrome Malignant melanoma of skin Gallbladder carcinoma Breast neoplasm [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA16603066 RCV000432105 RCV000425355 RCV000430740 RCV000436759 RCV000428548 RCV000438570 RCV000419625 RCV000420923 RCV000573315 COSM707881 RCV000444111 COSM1640852 RCV000430935 RCV000432831 RCV000441260 RCV000421436 RCV000424235 COSM707880 RCV000421238 COSM10870 RCV000436078 VAR_005929 RCV000444080 RCV000430584 RCV000459914 RCV000443278 rs138729528 RCV000420706 RCV000426938 RCV000437498 |
175 | R>G | Malignant neoplasm of body of uterus Medulloblastoma (mdb) upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system Hepatocellular carcinoma B-cell chronic lymphocytic leukemia stomach Lung adenocarcinoma Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Hereditary cancer-predisposing syndrome Gastric adenocarcinoma Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma Medulloblastoma large_intestine Nasopharyngeal neoplasm LFS; germline mutation and in sporadic cancers; somatic mutation breast Breast neoplasm Li-Fraumeni syndrome Malignant melanoma of skin Gallbladder carcinoma [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000131301 RCV001270269 CA000251 COSM99022 RCV001527463 COSM99914 rs28934578 COSM3355994 RCV000204931 RCV000785352 COSM1640851 RCV000239398 RCV000421746 RCV000763419 COSM10648 RCV001270268 RCV001255668 RCV000213054 VAR_005932 RCV000013173 RCV000428918 |
175 | R>H | upper_aerodigestive_tract LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; loss of susceptibility to calpain Adrenocortical carcinoma, hereditary Lip and oral cavity carcinoma Colorectal cancer central_nervous_system skin Familial cancer of breast stomach vulva kidney Li-fraumeni syndrome 1 (lfs1) pancreas penis soft_tissue haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 cervix biliary_tract liver adrenal_gland Hereditary cancer-predisposing syndrome endometrium urinary_tract bone lung salivary_gland Neoplasm Squamous cell carcinoma of the head and neck ovary thyroid oesophagus Malignant tumor of esophagus large_intestine prostate Neoplasm of ovary breast Breast neoplasm Li-Fraumeni syndrome [Cosmic, UniProt, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM1679510 RCV000161065 CA000252 COSM1679509 VAR_005930 COSM1679508 COSM10718 rs28934578 |
175 | R>L | lung upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) biliary_tract liver oesophagus large_intestine Hereditary cancer-predisposing syndrome central_nervous_system LFS; germline mutation and in sporadic cancers; somatic mutation [Cosmic, Ensembl, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM1640850 RCV000440706 RCV000429162 RCV000435143 CA16602995 COSM117398 RCV000429805 RCV000434780 RCV000440448 RCV000442295 COSM3378352 RCV000445093 COSM117395 RCV000445073 RCV000423829 COSM10645 RCV000424490 RCV000425950 RCV000424063 rs786202962 VAR_005933 RCV000423447 RCV000431923 |
176 | C>F | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma skin central_nervous_system Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue genital_tract Carcinoma of esophagus Renal cell carcinoma, papillary, 1 liver adrenal_gland urinary_tract bone Gastric adenocarcinoma Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine prostate breast Acute myeloid leukemia Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm [Cosmic, ClinVar, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000425147 RCV000423257 RCV000434994 COSM4139870 COSM4139871 RCV000439618 RCV000437830 RCV000422633 COSM44692 RCV000427160 RCV000434565 CA16602997 RCV000426543 RCV000442522 COSM220758 RCV000433975 RCV000417996 RCV000417784 rs967461896 RCV000785535 RCV000445223 RCV001023834 RCV000432450 COSM220757 |
176 | C>G | Renal cell carcinoma, papillary, 1 Carcinoma of esophagus Ovarian serous cystadenocarcinoma liver Hereditary cancer-predisposing syndrome Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma Squamous cell carcinoma of the head and neck ovary Neoplasm of brain Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine Neoplasm of ovary haematopoietic_and_lymphoid_tissue breast Acute myeloid leukemia Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1567552847 COSM44948 COSM1645227 COSM3672588 CA913191047 COSM1172480 RCV000785487 COSM1172481 |
176 | C>R | upper_aerodigestive_tract oesophagus large_intestine central_nervous_system prostate stomach Neoplasm of ovary haematopoietic_and_lymphoid_tissue breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000438958 RCV000421755 COSM1172481 RCV000419681 RCV000423671 RCV000430876 COSM1172480 RCV000436236 RCV000419497 CA16602999 RCV000444713 RCV000441815 COSM1645227 rs967461896 RCV000431573 RCV000436752 COSM44948 RCV000425379 COSM3672588 RCV000431070 RCV000430429 RCV000436082 |
176 | C>R | upper_aerodigestive_tract Carcinoma of esophagus Renal cell carcinoma, papillary, 1 Ovarian serous cystadenocarcinoma central_nervous_system Hepatocellular carcinoma stomach Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of brain oesophagus Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma prostate Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Acute myeloid leukemia Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000420646 VAR_044920 RCV000492644 RCV000444511 RCV000427846 COSM1324781 RCV000436945 RCV000442242 RCV000433667 CA16602996 RCV000428308 RCV000428520 COSM2744845 RCV000439156 RCV000420420 COSM44645 RCV000439650 RCV000425621 RCV000426275 rs967461896 COSM44146 COSM3378353 COSM1324782 RCV000417611 RCV000437617 |
176 | C>S | Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Lung adenocarcinoma vulva sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 Carcinoma of esophagus liver Hereditary cancer-predisposing syndrome endometrium Gastric adenocarcinoma Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine prostate breast Acute myeloid leukemia Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000424249 COSM1268357 RCV000439276 RCV000424653 RCV000429952 RCV000434070 RCV000445065 RCV000567103 RCV000430137 RCV000422732 CA16602998 COSM1268358 RCV000429475 RCV000418563 RCV000421434 rs1057519980 COSM11114 RCV000440822 RCV000442369 RCV000432087 RCV000530055 RCV000441518 VAR_005934 |
176 | C>W | upper_aerodigestive_tract Renal cell carcinoma, papillary, 1 Carcinoma of esophagus Ovarian serous cystadenocarcinoma Hereditary cancer-predisposing syndrome Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck Neoplasm of brain oesophagus Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Acute myeloid leukemia Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome Breast neoplasm [Cosmic, ClinVar, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000429854 RCV000430568 COSM10687 COSM99669 RCV000418577 RCV000424233 COSM1649384 RCV000166045 RCV000433025 VAR_044921 RCV000255616 RCV000435778 RCV000419236 COSM3388204 RCV000437356 RCV000441417 RCV000441274 RCV000432068 RCV000461158 RCV000421421 RCV000430147 RCV000422335 RCV000438398 COSM99672 rs786202962 CA000254 |
176 | C>Y | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma central_nervous_system skin Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 Carcinoma of esophagus biliary_tract liver Hereditary cancer-predisposing syndrome urinary_tract bone Gastric adenocarcinoma Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine breast Acute myeloid leukemia Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
COSM43669 rs147002414 RCV000687535 CA397841420 RCV000574871 |
177 | P>T | oesophagus Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000165373 rs786202525 |
177 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1709731 RCV000477631 COSM44097 COSM1709733 rs751477326 VAR_005935 COSM3522698 COSM1709732 RCV000759377 CA16615728 |
177 | P>L | sporadic cancers; somatic mutation lung upper_aerodigestive_tract large_intestine skin prostate stomach haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000565979 CA002428 COSM117224 COSM1640849 COSM10651 RCV000540639 VAR_036505 rs751477326 COSM117221 RCV000582953 |
177 | P>R | upper_aerodigestive_tract liver Hereditary cancer-predisposing syndrome central_nervous_system stomach sporadic cancers; somatic mutation lung ovary pancreas large_intestine prostate breast Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
rs786202525 RCV000013176 RCV000215848 |
178 | H>missing | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567552637 RCV000785267 |
178 | H>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000633339 RCV000575494 CA397841387 rs1064795203 COSM44901 COSM984946 |
178 | H>D | lung thyroid Hereditary cancer-predisposing syndrome endometrium bone breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1555526004 COSM44215 VAR_044929 RCV000562255 CA397841366 |
178 | H>P | sporadic cancers; somatic mutation large_intestine Hereditary cancer-predisposing syndrome central_nervous_system haematopoietic_and_lymphoid_tissue breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000704693 rs1567552753 |
179 | H>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM2744838 RCV000426383 COSM707884 RCV000419821 RCV000443866 rs587780070 RCV000424030 RCV000437679 COSM3958834 RCV000430072 RCV000444860 RCV000421694 RCV000431709 COSM707885 RCV000431956 RCV000444992 VAR_044933 RCV000423899 RCV001851020 RCV000420116 RCV000436443 RCV000430612 RCV000440707 RCV000441771 CA16603031 COSM44776 RCV000425288 RCV000436622 |
179 | H>D | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation kidney Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary Squamous cell lung carcinoma breast Acute myeloid leukemia Breast neoplasm Malignant melanoma of skin Gallbladder carcinoma Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
COSM129844 RCV000443637 COSM129845 RCV000420124 RCV000427517 RCV000421837 RCV000427941 RCV000438631 RCV000418835 RCV000435347 RCV000418129 CA16603029 RCV000432531 RCV000433134 RCV000705316 RCV000427330 COSM1731642 rs1057519991 RCV000438217 RCV000429543 RCV000439930 RCV000444683 RCV000432746 VAR_044934 COSM43635 RCV000426806 RCV000439318 |
179 | H>L | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma NS Glioblastoma central_nervous_system skin Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus biliary_tract Small cell lung carcinoma liver urinary_tract Gastric adenocarcinoma lung salivary_gland Squamous cell carcinoma of the head and neck Uterine carcinosarcoma oesophagus Squamous cell lung carcinoma large_intestine breast Acute myeloid leukemia Breast neoplasm Malignant melanoma of skin Gallbladder carcinoma Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
COSM326728 RCV000429415 RCV000433494 RCV000440508 rs587780070 RCV000418067 RCV000419091 RCV000424599 RCV000434154 RCV000444321 RCV000440898 RCV000433706 RCV000422797 RCV000424807 CA16603030 VAR_044935 RCV000430449 RCV000695193 COSM326727 RCV000422109 RCV000445154 RCV000564826 RCV000427824 RCV000435925 RCV000419301 COSM44151 RCV000434865 |
179 | H>N | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma skin Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine cervix Carcinoma of esophagus Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma large_intestine breast Acute myeloid leukemia Li-Fraumeni syndrome Gallbladder carcinoma Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
VAR_044936 RCV000431234 RCV000434884 RCV000427172 RCV000432547 RCV000428125 RCV001861483 RCV000433456 RCV000421433 RCV000421224 RCV000438275 RCV000439058 RCV000444604 RCV000422328 RCV000443703 rs1057519991 RCV000441519 RCV000420510 RCV001023982 RCV000426919 COSM44218 RCV000427925 RCV000444694 RCV000437164 CA16603032 |
179 | H>P | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma Hepatocellular carcinoma Lung adenocarcinoma small_intestine sporadic cancers; somatic mutation Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus Small cell lung carcinoma Hereditary cancer-predisposing syndrome Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Squamous cell lung carcinoma breast Acute myeloid leukemia Li-Fraumeni syndrome Malignant melanoma of skin Gallbladder carcinoma Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000419975 RCV000436952 COSM307264 CA16603028 COSM11249 RCV000444017 RCV000439103 RCV000431267 COSM1158094 COSM1158095 COSM1649385 RCV000421045 rs876660821 COSM3820720 VAR_044937 COSM307263 RCV000431364 COSM2744837 RCV000436580 RCV000425641 RCV000444951 RCV000420594 COSM44214 RCV000428479 RCV000429821 COSM3388355 RCV000423857 RCV000441082 RCV000444976 RCV000421558 RCV000437195 RCV000425896 |
179 | H>Q | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma liver Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary Squamous cell lung carcinoma large_intestine breast Acute myeloid leukemia Breast neoplasm Malignant melanoma of skin Gallbladder carcinoma [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV001527472 COSM3820720 COSM3388355 COSM307264 COSM11249 COSM307263 RCV000464573 RCV000567952 CA16615708 COSM1158094 COSM2744837 COSM1158095 COSM1649385 COSM44214 rs876660821 |
179 | H>Q | upper_aerodigestive_tract liver Hereditary cancer-predisposing syndrome central_nervous_system stomach lung ovary pancreas large_intestine Neoplasm of ovary haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000529132 RCV000428674 RCV000417973 RCV000445268 RCV000440632 RCV000437826 RCV000438042 RCV000426502 RCV000443785 RCV000417695 RCV000433227 COSM214222 COSM1645241 RCV000438407 CA16603027 COSM214223 RCV000439947 RCV000432550 COSM10889 RCV000427175 RCV000433943 rs1057519991 RCV000421853 RCV000429260 COSM3396280 RCV000423292 VAR_044938 RCV000420789 |
179 | H>R | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue cervix Carcinoma of esophagus biliary_tract Small cell lung carcinoma liver endometrium urinary_tract Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma large_intestine prostate breast Acute myeloid leukemia Li-Fraumeni syndrome Malignant melanoma of skin Breast neoplasm Gallbladder carcinoma [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000434725 RCV000444364 RCV000436304 CA000256 RCV000428854 rs587780070 RCV000430411 RCV000431087 COSM129848 RCV000555493 VAR_044939 RCV000441827 RCV000434379 RCV000115726 COSM129849 COSM10768 COSM3388203 RCV000444227 RCV000419735 COSM1709730 RCV000440222 RCV000436095 RCV000424007 RCV000435360 RCV000423688 RCV000423020 RCV000427283 RCV000663095 RCV000424716 RCV000419024 |
179 | H>Y | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma skin central_nervous_system Hepatocellular carcinoma stomach Lung adenocarcinoma small_intestine vulva Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 Carcinoma of esophagus Small cell lung carcinoma liver endometrium urinary_tract bone Gastric adenocarcinoma eye lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary thyroid oesophagus Squamous cell lung carcinoma large_intestine prostate LFS; germline mutation and in sporadic cancers; somatic mutation breast Acute myeloid leukemia Li-Fraumeni syndrome Malignant melanoma of skin Breast neoplasm Gallbladder carcinoma [ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
rs879253911 COSM43597 RCV000785283 CA397841300 |
180 | E>* | lung upper_aerodigestive_tract liver oesophagus large_intestine urinary_tract stomach prostate Neoplasm of ovary breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM1522502 RCV000235571 CA10584590 VAR_044943 RCV000544036 rs879253911 COSM1522501 RCV000492319 COSM43772 |
180 | E>K | lung upper_aerodigestive_tract large_intestine Hereditary cancer-predisposing syndrome urinary_tract LFS; germline mutation and in sporadic cancers; somatic mutation Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM1638400 COSM11090 COSM131462 RCV000236276 RCV000131943 COSM3712584 RCV000168292 CA000257 VAR_044946 rs587782596 COSM131463 |
181 | R>C | upper_aerodigestive_tract biliary_tract liver Hereditary cancer-predisposing syndrome central_nervous_system skin endometrium bone stomach small_intestine lung large_intestine LFS; germline mutation and in sporadic cancers; somatic mutation breast Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
COSM1386798 COSM3388201 COSM3388202 COSM10738 CA000259 COSM1386797 RCV000168247 RCV000576528 rs397514495 RCV000255239 RCV000131382 VAR_044948 |
181 | R>H | upper_aerodigestive_tract biliary_tract Hereditary cancer-predisposing syndrome Glioma susceptibility 1 (glm1) central_nervous_system endometrium urinary_tract stomach small_intestine kidney ovary Li-fraumeni syndrome 1 (lfs1) pancreas oesophagus large_intestine prostate LFS; germline mutation and in sporadic cancers; somatic mutation breast Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000692266 CA000262 rs397514495 COSM44152 VAR_005937 RCV000032610 |
181 | R>L | upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) large_intestine Glioma susceptibility 1 (glm1) a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation Glioma susceptibility 1 breast Li-Fraumeni syndrome [Cosmic, Ensembl, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_044950 CA10580940 rs587782596 RCV000222957 RCV000799329 |
181 | R>S | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs1567552584 RCV000785517 |
182 | C>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_044953 COSM44300 RCV000565655 CA397841206 rs1555525970 |
183 | S>L | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome prostate breast [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1567552536 RCV000785502 |
184 | D>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_044955 CA16615998 rs1060501209 RCV000462657 |
184 | D>G | sporadic cancers; somatic mutation Li-Fraumeni syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA000264 VAR_044961 RCV000662659 RCV001552973 COSM46036 rs150607408 RCV000233843 RCV000129849 |
185 | S>N | Li-fraumeni syndrome 1 (lfs1) a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome urinary_tract Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Ensembl, UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs375275361 VAR_044964 RCV000235477 RCV000470622 COSM45637 CA002392 RCV000213742 |
186 | D>E | upper_aerodigestive_tract a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000571882 VAR_044967 COSM116608 rs1060501206 COSM44700 RCV000481372 COSM116605 CA16615707 RCV000467183 |
186 | D>N | sporadic cancers; somatic mutation upper_aerodigestive_tract ovary Li-fraumeni syndrome 1 (lfs1) oesophagus Hereditary cancer-predisposing syndrome urinary_tract Li-Fraumeni syndrome [UniProt, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
rs2073348422 RCV001052609 |
189 | A>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001225431 rs2073347757 |
189 | A>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397840875 COSM45789 RCV000633369 rs1555525921 VAR_044976 |
189 | A>S | a sporadic cancer; somatic mutation breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM44349 rs121912665 RCV000536677 RCV000013182 RCV000144671 RCV000132058 VAR_044978 CA000270 |
189 | A>V | upper_aerodigestive_tract ovary Li-fraumeni syndrome 1 (lfs1) Familial colorectal cancer Hereditary cancer-predisposing syndrome soft_tissue a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation breast Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Cosmic, Ensembl, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001024420 rs1597368891 |
190 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000551566 rs876660825 COSM1386772 CA16620625 COSM3356968 VAR_005944 COSM1386773 COSM43657 RCV000484792 COSM2152692 |
190 | P>L | sporadic cancers; somatic mutation upper_aerodigestive_tract liver oesophagus large_intestine central_nervous_system skin stomach prostate haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs876660825 COSM44004 COSM1189387 RCV000222080 VAR_044981 CA10580937 COSM1189388 |
190 | P>R | sporadic cancers; somatic mutation lung oesophagus Hereditary cancer-predisposing syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA10580938 VAR_044983 RCV000213384 rs876660254 COSM44438 |
190 | P>T | sporadic cancers; somatic mutation upper_aerodigestive_tract biliary_tract oesophagus Hereditary cancer-predisposing syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000557025 rs1555525902 |
191 | P>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA000272 RCV000219468 COSM44172 RCV000205751 RCV000766937 VAR_044986 RCV000122174 RCV000662561 rs587778718 |
191 | P>R | sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) oesophagus Hereditary cancer-predisposing syndrome prostate Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [UniProt, Ensembl, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001324149 CA287488409 VAR_044987 COSM43702 rs868590738 |
191 | P>S | sporadic cancers; somatic mutation oesophagus skin Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs2073345648 RCV001239278 |
192 | Q>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001270280 rs2073344721 |
192 | Q>H | Malignant tumor of esophagus [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000418378 RCV000431849 RCV000434704 RCV000442175 RCV000436250 RCV000444718 RCV000425552 RCV000419924 RCV000432462 RCV000430614 RCV000440641 RCV000438391 RCV000419005 RCV000423999 COSM251416 CA16603034 RCV000441340 rs876658468 COSM44002 RCV000436620 RCV000421156 VAR_005947 COSM251417 RCV000425273 RCV000425919 RCV000429967 |
193 | H>D | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma liver Gastric adenocarcinoma Prostate adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary Squamous cell lung carcinoma breast Acute myeloid leukemia Papillary renal cell carcinoma, sporadic Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM11066 COSM99919 RCV000421777 RCV000430839 RCV000437660 RCV000697802 RCV000432479 RCV000443734 RCV000433537 RCV000428359 RCV000431198 VAR_044992 RCV000422830 RCV000444673 RCV000438323 RCV000438373 RCV000437609 RCV000441921 CA000276 rs786201838 RCV000439007 RCV000419701 RCV000421145 RCV000420523 COSM99916 COSM2744772 RCV000165315 COSM3732881 RCV000427615 RCV000426960 |
193 | H>L | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma central_nervous_system B-cell chronic lymphocytic leukemia Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma adrenal_gland Hereditary cancer-predisposing syndrome endometrium Gastric adenocarcinoma Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma breast Acute myeloid leukemia Papillary renal cell carcinoma, sporadic Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000432878 RCV000419544 COSM3958823 RCV000438671 COSM3958824 RCV000427057 VAR_044993 RCV000444677 COSM3958822 RCV000428079 RCV000420894 CA16603035 RCV000437710 RCV000420192 RCV000430888 RCV000432133 RCV000441629 RCV000422179 RCV000426753 RCV000441851 RCV000422815 rs876658468 RCV000437420 COSM43935 RCV000439335 COSM3958821 RCV000433595 RCV000421458 |
193 | H>N | Malignant neoplasm of body of uterus Carcinoma of esophagus biliary_tract Ovarian serous cystadenocarcinoma Small cell lung carcinoma Hepatocellular carcinoma B-cell chronic lymphocytic leukemia stomach Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Neoplasm of brain Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Acute myeloid leukemia Papillary renal cell carcinoma, sporadic Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000435420 RCV000427668 RCV000434933 RCV000439568 RCV000433585 RCV000417520 RCV000991151 RCV000442541 RCV000423516 RCV000422912 RCV000428877 RCV000440128 COSM131458 COSM131459 RCV000418213 RCV000429577 RCV000422374 rs786201838 COSM43833 RCV001525967 RCV000445292 RCV000444985 VAR_044994 RCV000428197 RCV000434205 CA16603033 RCV000424851 RCV000435566 |
193 | H>P | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma central_nervous_system B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome endometrium Gastric adenocarcinoma Prostate adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck oesophagus Squamous cell lung carcinoma large_intestine breast Acute myeloid leukemia Papillary renal cell carcinoma, sporadic Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV001024540 rs1597368777 CA397840669 |
193 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM10742 CA000274 VAR_005948 rs786201838 COSM308306 COSM1740322 COSM308307 COSM3820719 |
193 | H>R | upper_aerodigestive_tract biliary_tract NS liver central_nervous_system urinary_tract endometrium stomach lung ovary oesophagus large_intestine prostate haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation breast [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
RCV000426264 RCV000419469 VAR_044996 RCV000421204 RCV000418749 RCV000444740 RCV000425998 RCV000429902 RCV000437380 RCV000441207 RCV000419839 COSM1731184 RCV000412758 RCV000436284 RCV000440111 RCV000430089 RCV000423524 COSM437530 RCV000441502 RCV000445008 COSM3388200 COSM10672 rs876658468 RCV000432551 RCV000221478 RCV000434647 COSM437529 RCV000424900 CA10580936 RCV000431464 |
193 | H>Y | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma NS central_nervous_system B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation kidney Neoplasm of brain pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus biliary_tract Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine breast Acute myeloid leukemia Papillary renal cell carcinoma, sporadic Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000418414 RCV000434383 CA000278 RCV000429595 RCV000439843 RCV000426684 RCV000421548 RCV000115728 RCV000417813 COSM376381 COSM1679502 RCV000439186 RCV000428029 rs587780071 COSM10995 RCV000436065 RCV000419908 VAR_044997 COSM376382 |
194 | L>F | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Glioblastoma skin urinary_tract Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck ovary Neoplasm of brain oesophagus large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000421586 RCV000443531 RCV000422209 COSM169019 RCV000565549 COSM169018 RCV000431615 RCV000436747 RCV000442619 RCV000431831 rs1057519998 RCV000426499 COSM43623 RCV000434795 CA16603052 RCV000427064 VAR_044998 RCV000443173 |
194 | L>H | Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Hereditary cancer-predisposing syndrome Glioblastoma Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Squamous cell carcinoma of the head and neck Neoplasm of brain oesophagus large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Breast neoplasm [ClinVar, UniProt, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000419057 COSM437525 RCV000426810 RCV000425646 RCV000633391 rs1057519998 RCV000433582 RCV000423937 RCV000442808 COSM437526 RCV000441887 COSM43827 RCV000424516 COSM3675531 COSM3675532 RCV000436323 VAR_005949 RCV000433343 RCV000441162 CA16603053 |
194 | L>P | Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Glioblastoma Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation Squamous cell carcinoma of the head and neck Neoplasm of brain oesophagus large_intestine Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine breast Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000422070 RCV000428827 COSM117647 RCV000420755 VAR_005950 COSM44571 rs1057519998 CA16044097 RCV000561306 RCV000431014 COSM3403268 RCV000430366 COSM1649391 RCV000440633 COSM117650 RCV000437791 RCV000535418 RCV000439886 RCV000424933 RCV000436915 RCV000419180 |
194 | L>R | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Glioblastoma central_nervous_system skin Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue liver Hereditary cancer-predisposing syndrome urinary_tract lung Squamous cell carcinoma of the head and neck ovary oesophagus large_intestine breast Li-Fraumeni syndrome Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000785262 rs1567552031 |
195 | I>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000435534 COSM3388199 RCV000420717 RCV000433525 COSM129840 COSM44633 rs942158624 RCV000428137 VAR_045001 RCV000426791 RCV000417891 COSM129841 RCV000444892 RCV000425266 RCV000436319 RCV000438337 COSM1731912 CA16603037 RCV000423573 RCV000430955 RCV000426094 RCV000441219 RCV000433861 RCV000418677 |
195 | I>F | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma NS Multiple myeloma Glioblastoma B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus liver urinary_tract Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary thyroid oesophagus Squamous cell lung carcinoma large_intestine breast Acute myeloid leukemia Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000426409 RCV000633400 RCV000421371 RCV000419550 RCV000442092 RCV000429158 RCV000439382 COSM562637 COSM1649392 RCV000434462 COSM562639 COSM562638 RCV000428127 RCV000438380 RCV000424140 rs1057519994 RCV000433822 RCV000436566 RCV000423525 RCV000442140 RCV000418858 RCV000429834 CA16603040 |
195 | I>M | Carcinoma of esophagus Ovarian serous cystadenocarcinoma Multiple myeloma Glioblastoma B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Neoplasm of brain Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine Acute myeloid leukemia Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM1738250 COSM44877 RCV000417492 rs760043106 RCV000692717 COSM3403267 COSM1738252 RCV000440765 VAR_045002 RCV000440578 RCV000425779 RCV000432578 RCV000427719 RCV000430554 COSM1738251 RCV000444669 RCV000422932 CA16603038 RCV000424894 RCV000419606 RCV000442006 RCV000437965 RCV000420311 RCV000433212 RCV000435160 |
195 | I>N | Ovarian serous cystadenocarcinoma Multiple myeloma Glioblastoma central_nervous_system B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus liver Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma large_intestine Acute myeloid leukemia Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000442729 RCV000431547 COSM44539 RCV000429901 CA16603039 rs760043106 RCV000437865 RCV000422467 VAR_045003 RCV000445057 RCV000426991 RCV001184465 COSM212745 RCV000440129 RCV000442296 RCV000437242 RCV000421312 RCV000439461 COSM212744 RCV000421805 RCV000429226 RCV000427622 RCV000432185 |
195 | I>S | Carcinoma of esophagus Ovarian serous cystadenocarcinoma Hereditary cancer-predisposing syndrome Multiple myeloma Glioblastoma Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Gastric adenocarcinoma Lung adenocarcinoma gastrointestinal_tract_(site_indeterminate) sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary Neoplasm of brain oesophagus Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Acute myeloid leukemia Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000421751 rs760043106 RCV000487386 RCV000437301 RCV000436603 RCV000429852 RCV000434089 COSM116924 COSM116921 COSM3421936 RCV000419621 RCV000442071 CA002232 RCV000441624 VAR_005951 COSM11089 RCV000418938 RCV000439388 RCV000429211 RCV000434805 RCV000421097 RCV000198789 RCV000428484 RCV000438726 COSM1645297 RCV000423911 |
195 | I>T | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma Multiple myeloma central_nervous_system Hepatocellular carcinoma B-cell chronic lymphocytic leukemia stomach Lung adenocarcinoma small_intestine sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus biliary_tract liver endometrium urinary_tract Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine breast Acute myeloid leukemia Li-Fraumeni syndrome Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000131510 COSM1640847 rs397516435 COSM99668 RCV000205265 RCV000412710 CA000282 COSM10705 COSM3378446 COSM99665 |
196 | R>* | upper_aerodigestive_tract biliary_tract liver Hereditary cancer-predisposing syndrome urinary_tract skin central_nervous_system stomach lung kidney ovary pancreas oesophagus large_intestine haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_045005 rs397516435 RCV000230517 RCV000217052 CA10580935 |
196 | R>G | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001523825 VAR_045006 rs483352697 RCV000087172 COSM45444 RCV001024636 CA000284 |
196 | R>L | sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome skin Li-Fraumeni syndrome 1 Renal cell carcinoma, papillary, 1 (rccp1) [UniProt, Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
VAR_045007 RCV000418400 RCV000423798 RCV000435372 RCV000443813 COSM2744765 RCV000443927 RCV000440531 RCV000434064 CA10580934 RCV000440866 RCV000419494 COSM43814 COSM218532 RCV000436292 COSM3733288 RCV000431695 RCV000426017 RCV000427483 rs483352697 RCV000433800 COSM218533 RCV000429772 RCV000216410 RCV000425092 |
196 | R>P | Ovarian serous cystadenocarcinoma Multiple myeloma Glioblastoma central_nervous_system stomach Lung adenocarcinoma Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine Renal cell carcinoma, papillary, 1 Carcinoma of esophagus Small cell lung carcinoma Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck oesophagus Squamous cell lung carcinoma large_intestine LFS; germline mutation and in sporadic cancers; somatic mutation breast Renal cell carcinoma, papillary, 1 (rccp1) Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000235733 COSM1386756 RCV000580263 COSM44599 CA336434 RCV000196467 rs483352697 VAR_045008 COSM1386755 |
196 | R>Q | sporadic cancers; somatic mutation thymus Li-fraumeni syndrome 1 (lfs1) large_intestine Hereditary cancer-predisposing syndrome soft_tissue breast Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome [UniProt, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
COSM1645189 COSM307272 COSM46212 COSM45265 rs786204041 COSM307271 RCV000566652 CA397840544 |
197 | V>L | lung ovary liver Hereditary cancer-predisposing syndrome breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
COSM1645189 VAR_045012 COSM307272 COSM46212 COSM45265 RCV000198322 CA337814 COSM307271 rs786204041 |
197 | V>L | sporadic cancers; somatic mutation lung ovary liver breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
VAR_045013 COSM43779 CA000285 rs786204041 COSM3712578 COSM3712581 RCV000167874 COSM3712579 COSM3712580 |
197 | V>M | lung upper_aerodigestive_tract oesophagus large_intestine urinary_tract haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation Li-Fraumeni syndrome [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000492785 rs1131691035 |
198 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397840529 COSM44241 RCV000785326 COSM1750370 COSM3522696 COSM118013 COSM118010 rs1567551854 |
198 | E>* | lung ovary upper_aerodigestive_tract liver large_intestine urinary_tract skin prostate Neoplasm of ovary breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA397840478 rs1555525857 RCV000706290 COSM43989 |
199 | G>E | lung peritoneum large_intestine urinary_tract haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM378225 CA397840480 rs1567551821 COSM44537 RCV000785258 COSM378224 |
199 | G>* | lung oesophagus large_intestine Neoplasm of ovary breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1131691011 RCV000492564 |
200 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2073338940 RCV001185668 |
200 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001186467 rs2073338748 |
201 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_045030 rs587780072 RCV000473040 COSM46074 CA000288 RCV000563913 RCV000115729 |
202 | R>C | sporadic cancers; somatic mutation upper_aerodigestive_tract Hereditary cancer-predisposing syndrome endometrium urinary_tract Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
rs587780072 CA10580933 COSM44772 VAR_045031 RCV000218191 |
202 | R>G | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
rs587778719 RCV001850277 VAR_045033 COSM44925 RCV000161030 CA000291 |
202 | R>L | sporadic cancers; somatic mutation skin haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
CA397840404 rs587778719 RCV001024853 COSM43608 |
202 | R>P | Hereditary cancer-predisposing syndrome skin breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs1567551730 RCV000703646 |
203 | V>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730882003 RCV000695145 COSM44365 RCV000564461 CA397840385 |
203 | V>L | ovary oesophagus Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000564049 rs730882003 COSM44365 CA397840390 RCV000696578 |
203 | V>L | ovary oesophagus Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000161031 COSM43599 rs730882003 RCV000492177 RCV000460914 CA000292 VAR_045039 |
203 | V>M | sporadic cancers; somatic mutation large_intestine Hereditary cancer-predisposing syndrome urinary_tract Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000785499 CA913190592 rs1567551718 |
204 | E>* | Neoplasm of ovary [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001255667 rs2073336758 |
204 | E>* | Lip and oral cavity carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM44924 COSM43928 RCV000164938 CA000298 rs786202222 |
205 | Y>* | ovary oesophagus large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001040734 rs786202222 |
205 | Y>* | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000439980 RCV000424901 RCV000440667 RCV000443828 RCV000704312 VAR_005953 COSM43947 RCV000427034 RCV000432320 RCV000442863 RCV000431652 RCV000443687 RCV000422980 RCV000427749 RCV000437968 COSM99633 RCV000437254 rs1057520007 RCV000430410 CA16603095 COSM99630 RCV000422077 COSM1649393 COSM3378351 RCV000433236 |
205 | Y>C | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma Multiple myeloma central_nervous_system skin Hepatocellular carcinoma stomach Lung adenocarcinoma vulva sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Renal cell carcinoma, papillary, 1 biliary_tract liver endometrium urinary_tract bone lung Non-Hodgkin lymphoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma large_intestine prostate breast Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000428939 RCV000462351 COSM1564189 RCV000436740 RCV000426948 RCV000444122 RCV000430021 RCV000421137 CA16603100 RCV000434446 COSM43844 RCV000439865 RCV000444873 RCV000421350 RCV000419128 RCV000434351 COSM1564188 RCV000428535 rs1057520008 RCV000423676 RCV000439629 RCV000663307 VAR_005954 RCV000438356 |
205 | Y>D | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Multiple myeloma Glioblastoma central_nervous_system skin Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine Li-Fraumeni syndrome 1 Carcinoma of esophagus Renal cell carcinoma, papillary, 1 urinary_tract Non-Hodgkin lymphoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Squamous cell lung carcinoma large_intestine breast Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
VAR_047175 RCV000418952 RCV000443853 RCV000421916 RCV000431494 RCV000419588 RCV000426974 CA16603096 RCV000436627 RCV000421235 RCV000434394 RCV000429897 RCV000438926 RCV000443993 COSM11351 RCV000429233 RCV000424047 RCV000439588 rs1057520007 RCV000428672 |
205 | Y>F | Malignant neoplasm of body of uterus Renal cell carcinoma, papillary, 1 Carcinoma of esophagus Ovarian serous cystadenocarcinoma Multiple myeloma Glioblastoma Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Non-Hodgkin lymphoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Neoplasm of brain pancreas Squamous cell lung carcinoma Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm [ClinVar, UniProt, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM1159831 RCV000426781 RCV000437451 RCV000431739 RCV000427755 COSM1159830 RCV000420368 RCV000443622 RCV000431958 RCV000443753 RCV000440094 COSM43642 RCV000437587 RCV000419308 RCV000439923 VAR_045046 rs1057520008 CA16603099 RCV000422887 RCV000421826 RCV000432726 RCV000424493 |
205 | Y>H | Malignant neoplasm of body of uterus Carcinoma of esophagus Renal cell carcinoma, papillary, 1 Ovarian serous cystadenocarcinoma Multiple myeloma Glioblastoma Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation lung Non-Hodgkin lymphoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
COSM220762 RCV000662621 RCV001024933 RCV000432365 RCV000424682 RCV001851022 RCV000437987 RCV000424892 RCV000433474 RCV000419577 RCV000441202 RCV000435608 RCV000430575 COSM45685 rs1057520008 RCV000444287 VAR_045047 RCV000420753 CA16603098 RCV000422784 RCV000430294 COSM220761 RCV000444368 RCV000417461 RCV000426051 |
205 | Y>N | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma Multiple myeloma Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 Renal cell carcinoma, papillary, 1 Carcinoma of esophagus Hereditary cancer-predisposing syndrome endometrium Non-Hodgkin lymphoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary Squamous cell lung carcinoma breast Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000426347 COSM215720 RCV000440868 RCV000438368 COSM44169 RCV000433698 RCV000441249 RCV000428105 COSM3421935 RCV000424176 RCV000443239 RCV000423862 COSM215719 RCV000430958 RCV000428760 RCV000436591 RCV000435531 CA16603097 VAR_045048 rs1057520007 COSM3421934 RCV000418906 RCV000417872 RCV000437249 |
205 | Y>S | Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Multiple myeloma Glioblastoma central_nervous_system Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 Carcinoma of esophagus biliary_tract liver Non-Hodgkin lymphoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma large_intestine breast Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000566251 RCV000507226 CA397840264 rs1555525804 |
206 | L>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs923100890 RCV001177946 |
207 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1464727668 COSM3820714 COSM3820713 COSM45796 RCV000709405 CA397840196 COSM3820716 COSM3820715 |
208 | D>G | large_intestine haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001862310 rs1597368376 CA397840203 COSM44716 RCV001025029 |
208 | D>H | oesophagus Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000492427 RCV000539085 RCV000414120 rs1057517840 |
209 | R>missing | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1386698 rs1429743956 CA397840184 COSM1386700 COSM1386699 RCV000771676 |
209 | R>G | large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs2073329654 RCV001265630 |
210 | N>missing | Malignant tumor of esophagus [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587776768 RCV000013156 |
210 | N>missing | Li-Fraumeni syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224314 rs2073332970 |
210 | N>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_045073 RCV000466733 rs1060501200 CA16615726 |
210 | N>Y | a familial cancer not matching LFS; germline mutation Li-Fraumeni syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000469438 VAR_045074 rs1060501198 CA16615722 COSM1386680 COSM44238 COSM1386681 |
211 | T>A | sporadic cancers; somatic mutation thymus large_intestine Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA397840134 rs1060501198 RCV000633327 COSM46038 |
211 | T>P | large_intestine Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000785471 RCV000492303 rs864309495 |
212 | F>missing | Hereditary cancer-predisposing syndrome Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM45703 RCV000687495 VAR_045079 RCV000492242 rs1064795766 CA16620624 RCV000486339 |
212 | F>I | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs864309495 RCV000202592 RCV001527089 RCV001576599 RCV001853261 |
213 | R>missing | Acute megakaryoblastic leukemia Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000213050 RCV000115730 rs397516436 COSM99618 COSM3378350 RCV000036532 COSM99615 COSM1638393 RCV000144672 CA000301 COSM10654 |
213 | R>* | upper_aerodigestive_tract NS skin central_nervous_system stomach small_intestine kidney Li-fraumeni syndrome 1 (lfs1) pancreas soft_tissue haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 biliary_tract liver Hereditary cancer-predisposing syndrome endometrium urinary_tract bone lung ovary thyroid oesophagus large_intestine prostate breast Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP |
|
RCV000438834 VAR_045084 RCV000444980 RCV000430949 COSM44102 CA16603068 RCV000428146 RCV000432206 RCV000432863 RCV000438677 RCV000431481 RCV000424254 RCV000426799 RCV000426157 RCV000425630 RCV000419627 rs397516436 RCV000417479 RCV000438186 RCV000444193 RCV000421524 RCV000428823 RCV000421648 RCV000420272 RCV000436862 RCV000437472 |
213 | R>G | Malignant neoplasm of body of uterus Adrenal cortex carcinoma Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus Renal cell carcinoma, papillary, 1 Gastric adenocarcinoma Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Squamous cell lung carcinoma Nasopharyngeal neoplasm Renal cell carcinoma, papillary, 1 (rccp1) Adenoid cystic carcinoma Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP |
|
RCV000443648 RCV000422458 COSM43650 RCV000422684 RCV000439979 COSM1741334 RCV000428841 RCV000418814 CA16603067 COSM3378349 RCV000428624 RCV000444469 RCV000438469 RCV000435132 RCV000417467 RCV000433789 RCV000445195 VAR_045085 RCV000427500 RCV000435387 RCV000427240 RCV000428488 rs587778720 COSM241998 COSM241997 RCV000418608 RCV000439587 RCV000421737 RCV000432738 RCV000437481 |
213 | R>L | Malignant neoplasm of body of uterus Adrenal cortex carcinoma upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine Carcinoma of esophagus Renal cell carcinoma, papillary, 1 liver urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung eye Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary thyroid oesophagus Squamous cell lung carcinoma large_intestine Nasopharyngeal neoplasm prostate Renal cell carcinoma, papillary, 1 (rccp1) Adenoid cystic carcinoma Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000440917 RCV000426111 RCV000423147 RCV000441598 COSM3717653 RCV000431639 CA10580932 RCV000419521 RCV000430230 COSM3717650 RCV000424407 COSM3717652 RCV000429975 RCV000436779 VAR_036506 RCV000423776 RCV000433848 RCV000425014 RCV000430895 RCV000434458 RCV000418520 RCV000435742 RCV000420213 RCV000440212 RCV000441029 RCV000443926 rs587778720 COSM11860 COSM3717651 RCV000443850 RCV000506128 RCV000220461 |
213 | R>P | Malignant neoplasm of body of uterus Adrenal cortex carcinoma Ovarian serous cystadenocarcinoma Glioblastoma Hepatocellular carcinoma stomach Lung adenocarcinoma Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine Renal cell carcinoma, papillary, 1 Carcinoma of esophagus liver Hereditary cancer-predisposing syndrome Gastric adenocarcinoma Prostate adenocarcinoma eye Uterine carcinosarcoma Squamous cell carcinoma of the head and neck oesophagus Squamous cell lung carcinoma large_intestine Nasopharyngeal neoplasm LFS; germline mutation and in sporadic cancers; somatic mutation Renal cell carcinoma, papillary, 1 (rccp1) Adenoid cystic carcinoma Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000420595 RCV000123099 COSM3403265 RCV000420908 RCV000432016 RCV000438230 RCV000144664 COSM10735 RCV000130072 RCV000436981 RCV000122176 RCV000443346 RCV000432438 RCV000425846 CA000302 RCV000427005 RCV000441015 RCV000428223 RCV000420459 RCV000419636 RCV000444201 VAR_005955 rs587778720 COSM131466 RCV000437236 RCV000430601 RCV000444077 COSM1726594 RCV000430946 COSM131467 RCV000422008 RCV000430755 RCV000626448 RCV000420734 RCV000424188 RCV000438582 |
213 | R>Q | Malignant neoplasm of body of uterus Adrenal cortex carcinoma Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system skin Hepatocellular carcinoma stomach Lung adenocarcinoma vulva kidney Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 Renal cell carcinoma, papillary, 1 Carcinoma of esophagus biliary_tract liver Hereditary cancer-predisposing syndrome endometrium urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma oesophagus Squamous cell lung carcinoma large_intestine Nasopharyngeal neoplasm LFS; germline mutation and in sporadic cancers; somatic mutation Renal cell carcinoma, papillary, 1 (rccp1) Adenoid cystic carcinoma Breast neoplasm Malignant melanoma of skin Li-Fraumeni syndrome [ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001025251 RCV001384200 RCV002067687 rs1597368095 |
214 | H>missing | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000444957 RCV000442701 RCV000427702 RCV000423188 rs1057519992 CA16603036 RCV000433885 RCV000437948 RCV000421427 RCV000445284 RCV000431675 RCV000440391 RCV000427039 |
214 | H>L | Renal cell carcinoma, papillary, 1 Carcinoma of esophagus Ovarian serous cystadenocarcinoma Squamous cell lung carcinoma Glioblastoma Pancreatic adenocarcinoma B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Gastric adenocarcinoma Neoplasm of the large intestine Renal cell carcinoma, papillary, 1 (rccp1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000214223 rs876658466 CA10580931 |
214 | H>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000417658 COSM43687 rs1057519992 RCV000477234 RCV001584113 VAR_045089 RCV000418330 RCV000445232 RCV000422504 RCV000439733 RCV000434864 COSM307279 RCV000429736 RCV000435583 RCV000492372 COSM3388198 CA16040595 COSM1640840 RCV000427653 RCV000429028 RCV000428396 COSM307280 |
214 | H>R | Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system Hepatocellular carcinoma B-cell chronic lymphocytic leukemia stomach sporadic cancers; somatic mutation pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 Carcinoma of esophagus biliary_tract liver Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma lung ovary thyroid oesophagus Squamous cell lung carcinoma large_intestine prostate breast Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
rs1567551402 RCV000785298 |
215 | S>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2073327702 RCV001071471 |
215 | S>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_045092 COSM3388197 RCV000430142 RCV000700891 COSM3388196 RCV000439730 RCV000418361 RCV000255449 COSM1318436 rs886039484 RCV000772138 COSM1318435 RCV000419408 RCV000437324 CA10588671 COSM43951 RCV000429054 RCV000436667 RCV000445278 RCV000427564 |
215 | S>G | Carcinoma of esophagus Ovarian serous cystadenocarcinoma Small cell lung carcinoma Hereditary cancer-predisposing syndrome urinary_tract Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung pancreas oesophagus large_intestine Pancreatic adenocarcinoma haematopoietic_and_lymphoid_tissue breast Acute myeloid leukemia Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000433950 COSM326720 VAR_045093 RCV000420217 RCV000785347 RCV000441630 RCV000440493 RCV000429840 COSM326719 RCV000420881 RCV000423272 RCV000430889 CA16603075 rs587782177 RCV001025280 COSM11450 RCV000435696 |
215 | S>I | upper_aerodigestive_tract Carcinoma of esophagus Ovarian serous cystadenocarcinoma Small cell lung carcinoma Hereditary cancer-predisposing syndrome central_nervous_system Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung kidney ovary oesophagus large_intestine Pancreatic adenocarcinoma Neoplasm of ovary haematopoietic_and_lymphoid_tissue breast Acute myeloid leukemia Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA16603077 RCV000423774 RCV000443221 RCV000492171 COSM308327 RCV000432107 RCV000434496 COSM44093 COSM308328 rs587782177 RCV000427974 RCV000442434 VAR_045094 RCV000422423 RCV000438643 RCV000421424 |
215 | S>N | upper_aerodigestive_tract Carcinoma of esophagus biliary_tract Ovarian serous cystadenocarcinoma Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome central_nervous_system Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation oesophagus large_intestine Pancreatic adenocarcinoma Acute myeloid leukemia Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA16603076 RCV000431745 RCV000437603 COSM1268354 VAR_045095 RCV000439391 RCV000442691 RCV000422178 COSM44979 COSM45122 RCV000432876 COSM3701298 rs1057520001 RCV000421044 RCV000442610 COSM3701297 RCV000662560 COSM46000 COSM1268353 RCV000425174 RCV000465501 |
215 | S>R | upper_aerodigestive_tract Carcinoma of esophagus Ovarian serous cystadenocarcinoma Small cell lung carcinoma liver skin Hepatocellular carcinoma stomach Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung ovary oesophagus large_intestine Pancreatic adenocarcinoma prostate haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome 1 Acute myeloid leukemia Breast neoplasm Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM1268354 RCV000492567 COSM45122 COSM46000 COSM3701298 COSM1268353 rs886039484 CA397840019 COSM3701297 COSM44979 |
215 | S>R | lung ovary upper_aerodigestive_tract liver oesophagus large_intestine Hereditary cancer-predisposing syndrome skin stomach prostate haematopoietic_and_lymphoid_tissue breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
VAR_045096 RCV000130796 CA000307 rs587782177 COSM44175 |
215 | S>T | sporadic cancers; somatic mutation lung oesophagus Hereditary cancer-predisposing syndrome central_nervous_system [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000440944 RCV000418474 COSM44274 rs1057520004 RCV000424832 VAR_045098 CA16603086 RCV000439819 RCV000418104 RCV000423283 RCV000436131 RCV000429571 RCV000434860 RCV000419558 RCV000429825 |
216 | V>E | upper_aerodigestive_tract Carcinoma of esophagus Ovarian serous cystadenocarcinoma Glioblastoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary Neoplasm of brain Squamous cell lung carcinoma Pancreatic adenocarcinoma breast Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000422282 RCV000423344 COSM119678 RCV000439990 rs1057520004 RCV000434681 CA16603085 COSM119681 RCV000440155 VAR_045099 RCV000442891 RCV000427043 RCV000424582 RCV000433417 RCV000433620 RCV000442920 COSM43681 |
216 | V>G | upper_aerodigestive_tract Carcinoma of esophagus Ovarian serous cystadenocarcinoma Glioblastoma Lung adenocarcinoma sporadic cancers; somatic mutation Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary Neoplasm of brain oesophagus Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM1386668 RCV000420083 RCV000428855 RCV000437749 RCV000422099 RCV000426649 CA16603084 RCV000439081 COSM1386669 COSM11210 rs730882025 RCV000431215 RCV000427972 RCV000442710 RCV000417716 RCV000437980 VAR_045100 |
216 | V>L | Carcinoma of esophagus Ovarian serous cystadenocarcinoma Glioblastoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma breast Breast neoplasm [ClinVar, UniProt, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM1386668 RCV000466409 COSM1386669 COSM11210 rs730882025 CA16615950 |
216 | V>L | lung ovary Li-fraumeni syndrome 1 (lfs1) large_intestine breast Li-Fraumeni syndrome [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000443170 RCV000583984 RCV000436614 RCV000168150 COSM120095 RCV000421819 RCV000663213 RCV000431843 COSM120098 rs730882025 RCV000161067 RCV000561534 CA000308 VAR_005956 RCV000426366 RCV000444190 RCV000438503 RCV000421726 COSM1644280 COSM10667 RCV000424101 RCV000428263 RCV000432944 COSM3388195 |
216 | V>M | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system stomach Lung adenocarcinoma sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas Pancreatic adenocarcinoma soft_tissue haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 Carcinoma of esophagus liver Hereditary cancer-predisposing syndrome bone lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma large_intestine breast Li-Fraumeni syndrome Breast neoplasm [Cosmic, ClinVar, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA000309 RCV000161936 rs35163653 VAR_047178 |
217 | V>M | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1567551279 RCV000785273 |
218 | V>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000633350 VAR_045108 CA397839930 COSM44198 rs1555525743 |
218 | V>G | sporadic cancers; somatic mutation lung upper_aerodigestive_tract ovary central_nervous_system haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1597367938 RCV000785492 |
218 | V>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000165061 rs786202315 RCV001385537 |
218 | V>missing | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878854072 COSM44683 VAR_045110 CA10583679 RCV000228072 |
218 | V>M | sporadic cancers; somatic mutation peritoneum urinary_tract skin soft_tissue Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000569731 rs1555525710 |
219 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1420675064 RCV001025418 CA397839907 COSM44439 VAR_045112 |
219 | P>L | sporadic cancers; somatic mutation pancreas oesophagus Hereditary cancer-predisposing syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
COSM44076 rs879253894 CA10584589 RCV000576805 VAR_045114 RCV000492115 |
219 | P>S | upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) oesophagus Hereditary cancer-predisposing syndrome soft_tissue a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 [Cosmic, Ensembl, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
rs876660749 RCV000222898 |
220 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876658144 RCV000222764 |
220 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567551150 CA397839886 RCV000785516 COSM44505 COSM43605 |
220 | Y>* | lung stomach Neoplasm of ovary breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs121912666 COSM99720 RCV000425869 RCV001579295 RCV000440244 COSM10758 COSM3355993 RCV000423029 RCV000417417 RCV000444814 RCV000213055 RCV000435063 RCV001310212 RCV000442230 RCV000423111 RCV000428097 CA000315 RCV000436553 COSM99718 RCV000423624 VAR_005957 RCV000115731 RCV000434614 RCV000785544 RCV001527468 RCV000439456 RCV000425193 COSM1644277 RCV000428791 RCV000434300 RCV000439645 RCV000418951 RCV000232050 RCV000433936 RCV000444717 |
220 | Y>C | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system skin Hepatocellular carcinoma B-cell chronic lymphocytic leukemia stomach Lung adenocarcinoma small_intestine Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas Pancreatic adenocarcinoma Carcinoma of breast soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 peritoneum Renal cell carcinoma, papillary, 1 biliary_tract Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome endometrium urinary_tract bone Gastric adenocarcinoma Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma large_intestine prostate Neoplasm of ovary LFS; germline mutation and in sporadic cancers; somatic mutation breast Acute myeloid leukemia Renal cell carcinoma, papillary, 1 (rccp1) Papillary renal cell carcinoma, sporadic Breast neoplasm Malignant melanoma of skin Li-Fraumeni syndrome [ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM2744705 RCV000441127 RCV000424311 RCV000431034 COSM2744707 RCV000444915 RCV000436457 RCV000426793 RCV000444073 VAR_045116 RCV000434918 RCV000437034 RCV001851023 RCV000418779 RCV000427506 RCV000425315 RCV000440413 RCV000417982 RCV000418575 rs530941076 RCV000433449 CA16603102 RCV000430837 COSM2744706 RCV000422783 COSM3773305 COSM11847 RCV000428144 |
220 | Y>D | Malignant neoplasm of body of uterus upper_aerodigestive_tract Renal cell carcinoma, papillary, 1 Ovarian serous cystadenocarcinoma Small cell lung carcinoma Glioblastoma Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Neoplasm of brain pancreas Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine Renal cell carcinoma, papillary, 1 (rccp1) Papillary renal cell carcinoma, sporadic Li-Fraumeni syndrome Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV000422197 COSM1172476 COSM44637 RCV000430823 RCV000444634 RCV000417798 RCV000566866 RCV000439425 RCV000429815 CA002135 RCV000440468 RCV000422371 RCV000444451 RCV000420142 RCV000438238 RCV000436002 rs530941076 RCV000431076 RCV000440668 COSM1172477 RCV000435010 VAR_005958 RCV000420004 RCV000425148 RCV000433089 RCV000431992 |
220 | Y>H | Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Glioblastoma Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 Small cell lung carcinoma Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma breast Renal cell carcinoma, papillary, 1 (rccp1) Papillary renal cell carcinoma, sporadic Breast neoplasm Malignant melanoma of skin [ClinVar, UniProt, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV000419523 RCV000419021 RCV000434427 RCV000429130 RCV000437403 RCV000438679 RCV000424584 RCV000432093 RCV000439357 RCV000419702 COSM44672 RCV000443812 rs530941076 COSM1726886 RCV000438068 RCV000434035 RCV000426310 RCV000429300 RCV000570507 CA16603101 RCV000421037 VAR_045118 RCV000423767 RCV000438838 COSM3773306 COSM1630417 COSM1630416 RCV000427847 |
220 | Y>N | Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Glioblastoma skin Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 biliary_tract Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome Gastric adenocarcinoma Prostate adenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck thyroid oesophagus Squamous cell lung carcinoma breast Renal cell carcinoma, papillary, 1 (rccp1) Papillary renal cell carcinoma, sporadic Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
rs121912666 RCV000418406 RCV000424238 COSM43850 RCV000432708 RCV000428157 RCV000436486 VAR_005959 RCV000013183 RCV000433786 RCV000443214 RCV000425300 RCV000425801 COSM3675522 COSM251427 RCV000417473 COSM251426 RCV000422874 CA000314 RCV000441285 RCV000441465 RCV000444276 RCV000429097 RCV000435597 RCV000445060 RCV000472593 RCV000423167 RCV000430581 COSM3675523 |
220 | Y>S | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma Hepatocellular carcinoma stomach Lung adenocarcinoma Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 peritoneum Renal cell carcinoma, papillary, 1 Small cell lung carcinoma a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation liver Gastric adenocarcinoma Prostate adenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma large_intestine breast Renal cell carcinoma, papillary, 1 (rccp1) Papillary renal cell carcinoma, sporadic Li-Fraumeni syndrome Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000234225 RCV000492096 rs878854071 |
221 | E>missing | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397839870 rs1567551121 RCV000695405 |
221 | E>A | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA000316 rs786201592 VAR_045122 RCV000528158 COSM44853 RCV000163935 |
221 | E>K | sporadic cancers; somatic mutation salivary_gland Hereditary cancer-predisposing syndrome vulva Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
rs1567551073 RCV000785327 RCV001869172 |
222 | P>missing | Neoplasm of ovary Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000411498 rs146340390 CA000317 RCV000213056 COSM44606 RCV000148907 VAR_045125 RCV000161032 |
222 | P>L | sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome central_nervous_system skin haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [UniProt, Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000477098 COSM44970 rs1060501203 VAR_045128 RCV000564109 CA16615720 |
222 | P>S | sporadic cancers; somatic mutation thymus Hereditary cancer-predisposing syndrome urinary_tract Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
COSM1679498 COSM1679499 COSM12193 RCV000223388 VAR_045131 RCV000633401 CA10580928 COSM1679497 rs138983188 |
223 | P>L | sporadic cancers; somatic mutation upper_aerodigestive_tract Hereditary cancer-predisposing syndrome prostate meninges Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP dbSNP |
|
rs1131691028 RCV000492340 CA397839786 |
224 | E>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA397839783 RCV001025571 COSM44014 rs1131691028 |
224 | E>G | Hereditary cancer-predisposing syndrome central_nervous_system breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000573879 CA397839791 rs1555525707 COSM10894 RCV001858144 VAR_045137 |
224 | E>K | sporadic cancers; somatic mutation lung large_intestine Hereditary cancer-predisposing syndrome urinary_tract haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs746504075 RCV000571914 CA397839539 COSM45353 |
225 | V>I | upper_aerodigestive_tract Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs1567550076 RCV000785269 |
226 | G>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
rs970212462 VAR_045147 RCV000542075 CA287488077 RCV000572327 COSM44399 |
226 | G>V | sporadic cancers; somatic mutation lung cervix Hereditary cancer-predisposing syndrome breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
RCV000785280 rs1567550018 |
227 | S>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567550002 RCV000785306 |
228 | D>* | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001862990 RCV001189231 rs2073267220 |
228 | D>E | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730882016 RCV000161057 |
229 | C>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000482930 RCV000492777 rs1064794312 CA16620623 RCV000633388 VAR_045159 COSM45612 |
229 | C>R | sporadic cancers; somatic mutation upper_aerodigestive_tract Hereditary cancer-predisposing syndrome breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
COSM45974 RCV000706342 CA397839434 rs1064793603 COSM46168 |
229 | C>S | large_intestine haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM1386646 COSM1386647 COSM44820 rs1555525564 RCV000552433 CA397839376 VAR_045167 |
231 | T>I | sporadic cancers; somatic mutation biliary_tract large_intestine Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM44786 CA397839370 RCV000567074 rs1555525562 VAR_045171 RCV000759379 |
232 | I>L | sporadic cancers; somatic mutation biliary_tract Hereditary cancer-predisposing syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM1172473 rs587781589 CA397839358 COSM1172474 COSM45045 RCV000785478 |
232 | I>S | liver oesophagus large_intestine central_nervous_system Neoplasm of ovary breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM984926 RCV000129637 RCV000582737 COSM984924 VAR_005962 rs587781589 COSM44601 CA000331 |
232 | I>T | sporadic cancers; somatic mutation upper_aerodigestive_tract thymus oesophagus large_intestine Hereditary cancer-predisposing syndrome endometrium haematopoietic_and_lymphoid_tissue breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000696660 rs1567549676 |
233 | H>* | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_047181 rs879254233 CA10584588 COSM45669 RCV000235730 RCV000569303 |
233 | H>R | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome pleura [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000115732 COSM3388193 RCV000420460 RCV000430670 RCV000445147 rs587780073 RCV000200601 COSM165072 RCV000435258 CA000337 VAR_005963 RCV000420651 RCV000492245 RCV000444325 COSM10725 RCV000422171 RCV000438314 RCV000433924 RCV000425854 RCV000432406 RCV000435287 COSM1646849 RCV000425220 COSM165073 RCV000444475 |
234 | Y>C | Adrenal cortex carcinoma upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system Hepatocellular carcinoma kidney pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue cervix Carcinoma of esophagus biliary_tract Small cell lung carcinoma liver adrenal_gland Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine prostate LFS; germline mutation and in sporadic cancers; somatic mutation breast Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
CA348450 RCV000445176 VAR_045180 RCV000425587 RCV000441597 RCV000423238 RCV000204217 RCV000433328 RCV000440475 COSM43768 rs864622237 COSM146342 RCV000432845 RCV000424345 RCV000435222 COSM146343 RCV000433956 RCV000492197 RCV000424462 RCV000445265 RCV000430896 RCV000418073 |
234 | Y>D | Adrenal cortex carcinoma Carcinoma of esophagus Ovarian serous cystadenocarcinoma Small cell lung carcinoma Hereditary cancer-predisposing syndrome Glioblastoma endometrium Hepatocellular carcinoma stomach Gastric adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation kidney Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000441352 RCV000530551 RCV000418604 RCV000427499 RCV000438411 RCV000421640 COSM238605 RCV000426894 VAR_005964 RCV000431867 RCV000492782 rs864622237 RCV000428164 RCV000439967 COSM238604 RCV000428839 COSM11152 RCV000437128 CA16603104 RCV000418790 COSM3362381 COSM2744649 RCV000436907 RCV000419222 |
234 | Y>H | Adrenal cortex carcinoma upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma skin central_nervous_system Hepatocellular carcinoma sporadic cancers; somatic mutation kidney Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary Squamous cell lung carcinoma large_intestine prostate Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000426723 VAR_045182 RCV000417830 RCV000433276 RCV000439167 RCV000434769 rs864622237 COSM220767 RCV000444893 RCV000418444 RCV000426109 RCV000444101 RCV000428072 CA16603105 RCV000426512 COSM220768 RCV000436114 COSM43956 RCV000436336 RCV000423653 |
234 | Y>N | Adrenal cortex carcinoma upper_aerodigestive_tract Carcinoma of esophagus Ovarian serous cystadenocarcinoma Small cell lung carcinoma liver Glioblastoma skin Hepatocellular carcinoma Gastric adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation eye Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma prostate Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000430039 RCV000421924 RCV000431511 RCV000443862 COSM43865 RCV000427293 RCV000444596 RCV000430207 CA16603103 RCV000444569 rs587780073 RCV000440245 COSM99955 RCV000423467 COSM99953 RCV000421263 VAR_045183 COSM1646850 RCV000433051 RCV000437540 RCV000439556 |
234 | Y>S | Adrenal cortex carcinoma upper_aerodigestive_tract Carcinoma of esophagus Ovarian serous cystadenocarcinoma Small cell lung carcinoma Glioblastoma skin Hepatocellular carcinoma Gastric adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck ovary Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001177820 rs786204145 RCV001875860 |
235 | N>D | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1581852 COSM43616 CA000343 rs144340710 COSM1581851 VAR_045186 |
235 | N>S | thymus skin central_nervous_system urinary_tract lung ovary Li-fraumeni syndrome 1 (lfs1) oesophagus large_intestine prostate haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation breast [Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA000339 RCV000168131 COSM45172 rs786204145 VAR_045188 |
235 | N>Y | sporadic cancers; somatic mutation upper_aerodigestive_tract endometrium Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM116674 RCV000423298 RCV000440629 COSM1646851 RCV000444464 RCV000429935 RCV000420300 COSM10731 RCV000419208 COSM116672 RCV000438183 RCV000437595 RCV000425130 CA16603106 VAR_045189 RCV000430980 RCV000428749 COSM3773303 rs730882026 |
236 | Y>C | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma stomach Lung adenocarcinoma Neoplasm of brain pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue biliary_tract liver urinary_tract endometrium Gastric adenocarcinoma Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine prostate LFS; germline mutation and in sporadic cancers; somatic mutation breast Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000418648 RCV000421570 rs587782289 RCV000428270 RCV000436923 RCV000429365 CA000344 RCV000419715 COSM129837 RCV000438979 VAR_045190 RCV000131168 RCV000435853 COSM43602 COSM129838 RCV000421075 RCV000430428 RCV000440030 |
236 | Y>D | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma liver Hereditary cancer-predisposing syndrome central_nervous_system Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation Squamous cell carcinoma of the head and neck Neoplasm of brain pancreas Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM44326 RCV000492107 COSM3701292 rs587782289 RCV000198628 COSM3701294 VAR_045192 COSM3701295 CA338059 COSM3701293 |
236 | Y>H | sporadic cancers; somatic mutation lung eye ovary upper_aerodigestive_tract biliary_tract liver pancreas Hereditary cancer-predisposing syndrome skin prostate Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000421176 RCV000438025 COSM43826 RCV000444573 RCV000422301 RCV000444665 COSM1157852 COSM1644276 CA16040589 VAR_045193 RCV000426248 RCV000443891 RCV000463978 RCV000431852 COSM1157851 RCV000439518 RCV000566931 RCV000427088 COSM3388353 RCV000432981 rs587782289 |
236 | Y>N | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Hereditary cancer-predisposing syndrome central_nervous_system skin stomach Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation Squamous cell carcinoma of the head and neck Neoplasm of brain pancreas oesophagus Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Breast neoplasm Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1555525539 RCV000574740 |
237 | M>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555525537 RCV000572072 |
237 | M>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA287488024 COSM44415 COSM1189384 COSM301402 COSM99646 VAR_005965 rs587782664 COSM11063 COSM10834 COSM301403 COSM3378348 RCV000785508 COSM99648 COSM1640835 COSM1640834 COSM3378444 COSM1189385 |
237 | M>I | LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on susceptibility to calpain upper_aerodigestive_tract liver urinary_tract central_nervous_system stomach bone testis lung ovary thyroid pancreas oesophagus large_intestine soft_tissue Neoplasm of ovary haematopoietic_and_lymphoid_tissue breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM44415 COSM1189384 RCV000431054 COSM11063 COSM10834 RCV000440576 RCV000428641 COSM99646 rs587782664 RCV000581940 COSM3378348 RCV000441725 COSM1640835 COSM301402 COSM1189385 RCV000132084 RCV000422710 RCV000433401 RCV000441079 RCV000423376 COSM301403 RCV000420354 COSM1640834 CA000349 RCV000435205 RCV000464261 COSM99648 RCV000417987 COSM3378444 RCV000432346 |
237 | M>I | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma central_nervous_system stomach testis Lung adenocarcinoma Neoplasm of brain pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus liver Hereditary cancer-predisposing syndrome urinary_tract bone Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary thyroid oesophagus Squamous cell lung carcinoma large_intestine breast Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM984920 RCV000442354 RCV000420529 RCV000432913 RCV000435309 RCV000442966 RCV000436968 VAR_045195 RCV000443369 CA001811 rs765848205 COSM43952 RCV000427086 RCV000422293 RCV000437739 RCV000429783 RCV000424589 |
237 | M>K | Malignant neoplasm of body of uterus upper_aerodigestive_tract Carcinoma of esophagus Ovarian serous cystadenocarcinoma endometrium Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck ovary Neoplasm of brain Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine breast Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
COSM1386632 CA397839214 RCV000699909 RCV000568529 COSM1386631 rs765848205 COSM45329 |
237 | M>T | lung large_intestine Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA000348 RCV000161033 RCV000431774 RCV000200500 RCV000421733 RCV000422107 COSM3717649 RCV000434187 COSM3717648 COSM1610842 RCV000439996 COSM1610841 RCV000430423 RCV000439317 rs730882004 VAR_045199 RCV000419726 RCV000429307 RCV000421083 RCV000443583 RCV000443569 COSM44525 |
237 | M>V | Malignant neoplasm of body of uterus upper_aerodigestive_tract Carcinoma of esophagus Ovarian serous cystadenocarcinoma liver urinary_tract Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck Neoplasm of brain Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine breast Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000428804 COSM4139867 RCV000433478 RCV000437321 rs1057519981 RCV000437476 RCV000430919 COSM46336 RCV000443356 RCV000420677 COSM4139866 COSM131450 RCV000435170 RCV000423396 RCV000427246 RCV000438876 RCV000422283 CA16603003 RCV000417486 RCV000428630 RCV000444792 COSM131451 RCV000439946 VAR_045200 RCV000422044 |
238 | C>G | Malignant neoplasm of body of uterus Carcinoma of esophagus Ovarian serous cystadenocarcinoma liver Neoplasm of uterine cervix Multiple myeloma Glioblastoma Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Gastric adenocarcinoma Lung adenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine LFS; germline mutation and in sporadic cancers; somatic mutation Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000433046 RCV000442237 RCV000437018 RCV000438447 RCV000437199 RCV000428210 RCV000420409 rs1057519981 CA16603002 RCV000421933 RCV000430655 COSM3937608 COSM44321 RCV000419348 COSM3937609 COSM1386629 RCV000424052 VAR_045201 RCV000426193 RCV000441879 RCV000430482 COSM1386628 RCV000441834 RCV000421679 RCV000431946 RCV000492666 |
238 | C>R | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Glioblastoma Multiple myeloma B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Lung adenocarcinoma small_intestine sporadic cancers; somatic mutation Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus biliary_tract liver Hereditary cancer-predisposing syndrome endometrium Gastric adenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus large_intestine prostate breast Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000565464 COSM43700 COSM249080 CA397839198 COSM249079 COSM44653 rs1057519981 |
238 | C>S | lung ovary liver pancreas Hereditary cancer-predisposing syndrome central_nervous_system skin soft_tissue bone haematopoietic_and_lymphoid_tissue breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1567549353 RCV000785259 |
238 | C>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989713 rs1597365075 |
238 | C>missing | Squamous cell carcinoma of the head and neck [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000442469 CA16603000 RCV000440369 RCV000473420 COSM99626 COSM43778 RCV000435343 RCV000425072 RCV000427531 RCV000433989 RCV000427235 RCV000417498 RCV000435149 COSM3403263 rs730882005 COSM99624 RCV000428817 RCV000432745 COSM2744631 RCV000422719 RCV000433862 RCV000444988 RCV000422481 VAR_005966 RCV000418555 RCV000439349 |
238 | C>F | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Glioblastoma Multiple myeloma central_nervous_system skin B-cell chronic lymphocytic leukemia Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue meninges Carcinoma of esophagus biliary_tract liver urinary_tract endometrium Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus large_intestine breast Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_045202 RCV000424302 RCV000424531 COSM44653 RCV000434584 RCV000441115 CA16603001 RCV000442617 RCV000440842 RCV000435732 rs730882005 RCV000439773 RCV000423226 RCV000419485 RCV000442527 RCV000418923 RCV000425465 RCV000429749 RCV000432222 COSM43700 RCV000425867 COSM249080 RCV000434344 COSM249079 |
238 | C>S | Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Glioblastoma Multiple myeloma skin central_nervous_system Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Lung adenocarcinoma Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus liver bone Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary LFS; germline mutation and in sporadic cancers; somatic mutation breast Breast neoplasm [ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs193920789 RCV000149049 VAR_045203 COSM1179295 CA000353 COSM1179296 RCV000203823 COSM44676 |
238 | C>W | sporadic cancers; somatic mutation Malignant tumor of prostate urinary_tract skin prostate Li-Fraumeni syndrome [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000426733 RCV000420202 COSM1649400 RCV000437851 RCV000167907 RCV000436794 RCV000235220 RCV000417749 RCV000421991 rs730882005 RCV000444562 CA000351 RCV000427976 RCV000433120 COSM179811 COSM3388191 RCV000431283 RCV000439129 COSM179812 RCV000426546 VAR_005967 RCV000418002 RCV000429110 RCV000438032 COSM11059 RCV000161034 RCV000442285 RCV000442204 |
238 | C>Y | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Multiple myeloma Glioblastoma central_nervous_system skin B-cell chronic lymphocytic leukemia Hepatocellular carcinoma stomach Lung adenocarcinoma Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Hereditary cancer-predisposing syndrome endometrium bone Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus large_intestine breast Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1555525518 RCV000545435 |
239 | N>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000460136 rs1060501197 |
239 | N>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000438332 RCV000429581 RCV000420011 RCV000438482 VAR_045208 RCV001851021 RCV000442626 RCV000428926 RCV000418854 CA16603054 RCV000436108 COSM473432 COSM44094 rs1057519999 COSM473433 RCV000567507 COSM3691865 RCV000426368 RCV000427640 COSM1649401 RCV000437044 |
239 | N>S | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma central_nervous_system Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation kidney soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 Hereditary cancer-predisposing syndrome endometrium urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus large_intestine breast Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000442232 RCV000435297 COSM43801 RCV000430564 RCV000425771 RCV000441278 COSM1731634 CA16603055 VAR_045209 RCV000633336 RCV000424579 RCV000420547 rs1057519999 RCV000417510 COSM1731633 RCV000436479 RCV000431205 COSM1731632 RCV000418162 |
239 | N>T | Malignant neoplasm of body of uterus upper_aerodigestive_tract Renal cell carcinoma, papillary, 1 Ovarian serous cystadenocarcinoma NS liver Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000222616 rs876659260 |
239 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597364916 RCV001026101 |
239 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001873198 RCV000785512 rs1567549651 |
239 | N>* | Neoplasm of ovary Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16607851 COSM44510 RCV000492173 RCV000529909 VAR_045207 rs1057522275 RCV000431317 COSM44647 |
239 | N>K | sporadic cancers; somatic mutation kidney upper_aerodigestive_tract biliary_tract liver Hereditary cancer-predisposing syndrome central_nervous_system Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1567549584 COSM43973 RCV000709404 COSM984911 COSM984909 CA397839141 |
240 | S>G | lung upper_aerodigestive_tract large_intestine endometrium central_nervous_system urinary_tract soft_tissue bone Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs764342812 COSM1386626 COSM43684 RCV000544531 COSM1386625 COSM45804 COSM45261 CA397839103 |
240 | S>R | oesophagus large_intestine urinary_tract stomach haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
COSM1386626 RCV001026129 rs1567549584 COSM43684 COSM1386625 CA397839143 COSM45804 COSM45261 |
240 | S>R | oesophagus large_intestine Hereditary cancer-predisposing syndrome urinary_tract stomach haematopoietic_and_lymphoid_tissue breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM1731911 RCV000429686 COSM1324803 RCV000440449 RCV000424609 RCV000441702 RCV000441961 RCV000423557 RCV000435947 COSM44224 RCV000432077 COSM1324804 RCV000426866 RCV000422775 RCV000437125 RCV000419457 RCV000418366 rs1057520002 RCV000434877 CA16603080 RCV000443160 RCV000425684 RCV000434790 VAR_033036 RCV000441931 RCV000420564 |
241 | S>A | Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma NS Glioblastoma central_nervous_system Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 Carcinoma of esophagus endometrium lung Non-Hodgkin lymphoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary large_intestine breast Renal cell carcinoma, papillary, 1 (rccp1) Papillary renal cell carcinoma, sporadic Malignant melanoma of skin Breast neoplasm Gallbladder carcinoma [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000430604 RCV000154419 RCV000439098 VAR_045217 RCV000425780 COSM437502 RCV000431373 RCV000438488 RCV000428236 RCV000236210 COSM437501 RCV000419417 RCV000420364 COSM3362448 RCV000426195 RCV000429339 COSM2744619 RCV000439590 RCV000442616 rs28934573 RCV000426900 RCV000422573 COSM10709 RCV000438178 RCV000417965 RCV000785321 CA000357 RCV000432564 RCV000437089 RCV000442642 RCV000492778 |
241 | S>C | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation kidney Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Renal cell carcinoma, papillary, 1 biliary_tract Hereditary cancer-predisposing syndrome endometrium urinary_tract lung Non-Hodgkin lymphoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary Neoplasm of ovary breast Renal cell carcinoma, papillary, 1 (rccp1) Papillary renal cell carcinoma, sporadic Gallbladder carcinoma Breast neoplasm Malignant melanoma of skin Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000426907 VAR_005969 RCV000436959 RCV000433125 COSM1649402 RCV000422867 RCV000559355 RCV000417576 COSM3522695 RCV000423921 RCV000421750 RCV000429321 RCV000418653 RCV000428255 RCV000013154 COSM214171 rs28934573 RCV000441622 COSM214170 RCV000435867 RCV000441398 RCV000436527 RCV000013153 COSM10812 RCV000426268 RCV000438965 RCV000430665 RCV000434173 RCV000444801 RCV000130168 CA000359 |
241 | S>F | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma skin central_nervous_system stomach Lung adenocarcinoma Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Hepatoblastoma Bone osteosarcoma Carcinoma of esophagus Renal cell carcinoma, papillary, 1 biliary_tract liver Hereditary cancer-predisposing syndrome endometrium urinary_tract lung Non-Hodgkin lymphoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus large_intestine LFS; germline mutation and in sporadic cancers; somatic mutation breast Renal cell carcinoma, papillary, 1 (rccp1) Papillary renal cell carcinoma, sporadic Breast neoplasm Li-Fraumeni syndrome Malignant melanoma of skin Gallbladder carcinoma [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000433139 RCV000429092 RCV000417799 RCV000435497 RCV000439326 RCV000425213 RCV000427437 VAR_045218 COSM984907 RCV000437871 RCV000418899 COSM3356967 COSM44578 RCV000433946 RCV000421946 COSM3356966 RCV000423390 RCV000442139 COSM984905 RCV000443312 RCV000436563 rs1057520002 RCV000422882 RCV000428035 CA16603079 RCV000442103 RCV000430183 |
241 | S>P | Malignant neoplasm of body of uterus Renal cell carcinoma, papillary, 1 Carcinoma of esophagus Ovarian serous cystadenocarcinoma Glioblastoma skin urinary_tract endometrium Lung adenocarcinoma sporadic cancers; somatic mutation Non-Hodgkin lymphoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 (rccp1) Papillary renal cell carcinoma, sporadic Breast neoplasm Gallbladder carcinoma Malignant melanoma of skin [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
CA16603078 COSM3712577 RCV000421131 RCV000420813 RCV000438864 RCV000440216 RCV000441922 RCV000437363 RCV000441902 RCV000431755 rs28934573 RCV000425344 RCV000441261 RCV000418625 RCV000423572 RCV000430987 COSM10935 RCV000430014 RCV000436296 RCV000432092 COSM1230111 COSM1230110 COSM2744620 VAR_045219 RCV000419713 RCV000424972 RCV000426095 |
241 | S>Y | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation kidney Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 Carcinoma of esophagus urinary_tract Non-Hodgkin lymphoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus large_intestine breast Renal cell carcinoma, papillary, 1 (rccp1) Papillary renal cell carcinoma, sporadic Malignant melanoma of skin Breast neoplasm Gallbladder carcinoma [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
VAR_005970 COSM1646852 RCV000417879 RCV000688366 RCV000442449 RCV000425032 COSM10810 RCV000418512 RCV000433671 RCV000424746 COSM3378347 rs121912655 RCV000442305 CA501203 RCV000435743 RCV000427153 COSM129834 COSM129835 RCV000435022 RCV000438269 |
242 | C>F | upper_aerodigestive_tract Glioblastoma central_nervous_system B-cell chronic lymphocytic leukemia Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation pancreas haematopoietic_and_lymphoid_tissue Carcinoma of esophagus biliary_tract liver endometrium urinary_tract Gastric adenocarcinoma lung eye Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma large_intestine breast Breast neoplasm Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000427357 RCV000417900 COSM3717645 COSM44135 RCV000420803 RCV000438030 RCV000461418 RCV000435223 RCV000426704 COSM3717646 RCV000428013 COSM3717643 CA501041 RCV000444807 VAR_045220 RCV000437385 rs1057519982 RCV000428578 RCV000442190 COSM3717644 |
242 | C>G | Carcinoma of esophagus liver Glioblastoma skin B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Squamous cell lung carcinoma prostate breast Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA397839073 COSM1386619 rs1057519982 COSM11738 COSM1386620 RCV001770396 RCV001857954 RCV000523905 |
242 | C>R | ovary upper_aerodigestive_tract liver pancreas large_intestine central_nervous_system Familial cancer of breast prostate haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000430244 RCV000662594 RCV000440943 COSM1610838 RCV000423712 COSM11133 COSM3717642 RCV000424356 COSM1610839 CA16603004 COSM44935 RCV000442629 RCV000441578 RCV000434352 RCV000439881 COSM2744611 rs1057519982 COSM342677 COSM342678 RCV000419559 RCV000429187 RCV000431566 |
242 | C>S | upper_aerodigestive_tract thymus Glioblastoma central_nervous_system B-cell chronic lymphocytic leukemia Hepatocellular carcinoma stomach Lung adenocarcinoma kidney pancreas haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 Carcinoma of esophagus liver endometrium Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma large_intestine breast Breast neoplasm [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000442778 COSM1196891 RCV000420917 RCV000438862 rs375874539 VAR_045223 RCV000421654 COSM11356 RCV000432344 RCV000430938 CA16603005 RCV000420256 RCV000431682 RCV000441640 COSM1196892 RCV000422298 RCV000432990 |
242 | C>W | cervix Carcinoma of esophagus biliary_tract Glioblastoma B-cell chronic lymphocytic leukemia Hepatocellular carcinoma stomach Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine breast Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP |
|
COSM43765 RCV000166281 rs786203117 CA000363 COSM43726 VAR_045227 |
243 | M>L | sporadic cancers; somatic mutation lung ovary large_intestine Hereditary cancer-predisposing syndrome skin endometrium central_nervous_system stomach breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
VAR_045229 RCV000222280 CA000365 rs730882006 RCV000161035 RCV000686581 COSM44536 |
243 | M>T | sporadic cancers; somatic mutation oesophagus Hereditary cancer-predisposing syndrome soft_tissue haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM44844 CA16615711 RCV000562254 RCV000464185 rs786203117 VAR_045230 |
243 | M>V | sporadic cancers; somatic mutation ovary Hereditary cancer-predisposing syndrome soft_tissue haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
RCV000492700 rs1555525486 |
244 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA287488006 VAR_047186 rs985033810 RCV000548437 COSM12013 |
244 | G>A | sporadic cancers; somatic mutation salivary_gland lung liver prostate haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000419449 COSM99683 RCV000422508 COSM99685 RCV000427875 RCV000437360 VAR_045231 RCV000429067 RCV000430162 RCV000438569 COSM1646853 RCV000443459 RCV000538079 RCV000418385 rs1057519989 RCV000437805 RCV000436692 COSM11524 RCV000427774 COSM3733384 CA16603021 RCV000439724 |
244 | G>C | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation kidney Neoplasm of brain Neoplasm of the large intestine Carcinoma of esophagus Small cell lung carcinoma liver adrenal_gland urinary_tract Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine prostate Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1057517983 VAR_045232 |
244 | G>D | LFS; germline mutation and in sporadic cancers; somatic mutation [UniProt] | Yes |
UniProt dbSNP |
|
COSM3717641 RCV000431939 RCV000419371 RCV000477083 RCV000444195 RCV000440742 COSM179808 RCV000429659 rs985033810 RCV000423079 RCV000413969 COSM10883 COSM1646854 COSM179809 RCV000439239 RCV000561866 RCV000428997 RCV000421269 RCV000444224 RCV000422456 RCV000427142 CA16043048 RCV000432739 |
244 | G>D | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system Hepatocellular carcinoma stomach Lung adenocarcinoma Neoplasm of brain Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue cervix Carcinoma of esophagus biliary_tract Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine breast Li-Fraumeni syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000420351 RCV000425485 RCV000418001 COSM673603 RCV000435229 VAR_045234 RCV000437599 RCV000419267 RCV000432729 RCV000443153 COSM673602 rs1057519989 CA16603024 RCV000425133 RCV000430145 COSM44221 RCV000431028 RCV000424520 RCV000438254 |
244 | G>R | Malignant neoplasm of body of uterus Carcinoma of esophagus Ovarian serous cystadenocarcinoma Small cell lung carcinoma Glioblastoma endometrium Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Neoplasm of brain Squamous cell lung carcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000436060 RCV000433704 VAR_045235 RCV000425382 RCV000434459 COSM984900 COSM984898 RCV000633372 COSM1716873 RCV000443654 RCV000418805 CA16603022 RCV000421362 RCV000492366 RCV000441006 rs1057519989 RCV000423748 RCV000426057 COSM10941 COSM3355992 RCV000426513 RCV000432031 RCV000442909 |
244 | G>S | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system skin Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain pancreas soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus biliary_tract Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome endometrium urinary_tract Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma large_intestine breast Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM1268363 RCV000424338 VAR_045236 RCV000443964 rs985033810 COSM43652 RCV000439173 CA16603023 RCV000428522 RCV000430897 RCV000441607 RCV000423073 RCV000433321 RCV000440310 RCV000433805 COSM1268364 RCV000420188 RCV000417831 RCV000434977 RCV000785338 |
244 | G>V | Malignant neoplasm of body of uterus Carcinoma of esophagus Ovarian serous cystadenocarcinoma Small cell lung carcinoma Glioblastoma endometrium Hepatocellular carcinoma stomach Gastric adenocarcinoma Lung adenocarcinoma vulva lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary Neoplasm of brain oesophagus Squamous cell lung carcinoma large_intestine Neoplasm of ovary Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation breast [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000422531 RCV000421477 RCV000438479 RCV000426521 RCV000431752 CA10588670 RCV000428537 RCV000442824 COSM3388186 RCV000425368 RCV000443845 RCV000255018 RCV000420237 RCV000427619 RCV000432804 VAR_005971 RCV000436773 RCV000443789 RCV000437884 rs121912656 COSM3388184 COSM3388185 COSM3388187 COSM43965 RCV000433958 |
245 | G>A | Carcinoma of esophagus Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system urinary_tract Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas oesophagus Squamous cell lung carcinoma Pancreatic adenocarcinoma prostate Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000440886 rs28934575 RCV000492412 RCV000436186 COSM1646855 COSM11081 RCV000441334 RCV000161025 VAR_005972 COSM562651 RCV000436330 RCV000419737 COSM3388190 RCV000425471 RCV000423577 RCV000013142 RCV000417593 RCV000633397 CA000369 RCV000434535 RCV000424262 RCV000418673 RCV000440197 RCV000428895 RCV000443435 RCV000430002 RCV000426090 COSM562652 |
245 | G>C | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma skin Hepatocellular carcinoma Lung adenocarcinoma Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine Li-Fraumeni syndrome 1 Carcinoma of esophagus liver Hereditary cancer-predisposing syndrome bone Gastric adenocarcinoma Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma large_intestine LFS; germline mutation and in sporadic cancers; somatic mutation breast Li-Fraumeni syndrome Breast neoplasm [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000440814 RCV000436871 RCV000437916 RCV000013149 COSM43606 RCV000426192 VAR_005973 COSM179805 RCV000164465 RCV000439739 RCV000422520 RCV000432021 RCV000431450 RCV000444304 RCV000419718 RCV000429017 RCV000206683 RCV000421831 CA000371 RCV000427250 rs121912656 RCV000444212 RCV000443515 COSM1640832 COSM179806 COSM3388189 RCV000421349 |
245 | G>D | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system skin Hepatocellular carcinoma stomach Lung adenocarcinoma vulva Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 Carcinoma of esophagus liver Hereditary cancer-predisposing syndrome urinary_tract bone Gastric adenocarcinoma Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma large_intestine prostate LFS; germline mutation and in sporadic cancers; somatic mutation breast Breast neoplasm Li-Fraumeni syndrome [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000418277 rs28934575 RCV000633351 RCV000437043 RCV000432081 CA16603025 RCV000424643 COSM3717640 COSM10957 RCV000425790 VAR_045238 RCV000441708 RCV000420527 RCV000444128 COSM3717639 RCV000436041 RCV000419444 RCV000439119 RCV000431462 COSM1610835 RCV000444043 RCV000426804 COSM1610836 RCV000430767 RCV000429713 |
245 | G>R | Ovarian serous cystadenocarcinoma NS Glioblastoma central_nervous_system Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus liver urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary thyroid Squamous cell lung carcinoma large_intestine breast Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
COSM121036 COSM6932 CA000367 rs28934575 COSM1640833 COSM3356965 VAR_005974 COSM121035 |
245 | G>S | cervix upper_aerodigestive_tract liver urinary_tract central_nervous_system endometrium skin stomach small_intestine vulva lung salivary_gland ovary Li-fraumeni syndrome 1 (lfs1) pancreas oesophagus large_intestine prostate soft_tissue haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation breast [Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000437258 RCV000438982 COSM131476 RCV000443716 RCV000426568 RCV000558455 RCV000421739 RCV000435854 RCV000429303 RCV000428216 RCV000424123 COSM11196 RCV000418643 RCV000439974 RCV000434833 RCV000421020 VAR_005975 RCV000430431 rs121912656 CA001743 COSM1646856 COSM3717638 RCV000444483 RCV000434145 COSM131475 |
245 | G>V | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system skin Hepatocellular carcinoma stomach Lung adenocarcinoma Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus liver urinary_tract endometrium Gastric adenocarcinoma Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma large_intestine LFS; germline mutation and in sporadic cancers; somatic mutation breast Li-Fraumeni syndrome Breast neoplasm [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
COSM3937605 RCV000561491 COSM1196423 COSM437495 RCV000633390 COSM1679496 COSM46136 rs1019340046 COSM10757 COSM437496 COSM1196422 COSM44310 VAR_045239 CA287487993 |
246 | M>I | upper_aerodigestive_tract liver Hereditary cancer-predisposing syndrome skin central_nervous_system urinary_tract stomach sporadic cancers; somatic mutation lung ovary oesophagus large_intestine breast Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
COSM44103 rs587780074 RCV000574219 CA397839001 |
246 | M>K | lung upper_aerodigestive_tract Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs483352695 COSM45992 VAR_044020 RCV000166380 CA000373 |
246 | M>L | sporadic cancers; somatic mutation biliary_tract Hereditary cancer-predisposing syndrome urinary_tract [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000470073 rs483352695 COSM45992 CA16615691 |
246 | M>L | biliary_tract urinary_tract Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000704600 COSM213120 RCV000785245 RCV000492075 COSM11355 COSM213119 VAR_005977 CA397838998 rs587780074 |
246 | M>T | sporadic cancers; somatic mutation biliary_tract thyroid large_intestine Hereditary cancer-predisposing syndrome skin Neoplasm of ovary breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs483352695 COSM43555 CA000374 RCV000161036 COSM3958808 COSM1726382 COSM251430 RCV000087173 VAR_005978 RCV000460370 COSM251429 |
246 | M>V | upper_aerodigestive_tract liver Hereditary cancer-predisposing syndrome urinary_tract stomach lung ovary oesophagus pancreas large_intestine soft_tissue haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation breast Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM3732740 rs786201762 COSM3732741 COSM43995 COSM369277 RCV000164218 CA000378 VAR_005980 COSM369278 |
247 | N>I | sporadic cancers; somatic mutation lung ovary oesophagus Hereditary cancer-predisposing syndrome stomach breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
VAR_045243 rs786201762 COSM44512 RCV000457243 CA16615997 |
247 | N>S | sporadic cancers; somatic mutation lung ovary liver soft_tissue stomach Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000444356 RCV000427544 RCV000435050 RCV000433611 COSM1189382 RCV000432931 RCV000633396 RCV000441010 RCV000430735 RCV000626118 RCV000425100 RCV000424776 COSM1189381 RCV000435353 RCV000427948 RCV000420498 CA16603069 RCV000444519 RCV000418362 VAR_005981 RCV000422668 RCV000437882 RCV000444427 RCV000425394 RCV000441711 COSM11564 RCV000417693 RCV000432207 RCV000440334 rs121912651 RCV000423297 RCV000436038 RCV000425782 |
248 | R>G | Malignant neoplasm of body of uterus Medulloblastoma (mdb) upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Multiple myeloma Glioblastoma Myelodysplastic syndrome (mds) central_nervous_system Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Lung adenocarcinoma small_intestine Myelodysplastic syndrome sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of colon Carcinoma of esophagus Small cell lung carcinoma Gastric adenocarcinoma Prostate adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary Squamous cell lung carcinoma Medulloblastoma large_intestine Acute myeloid leukemia Breast neoplasm Malignant melanoma of skin Li-Fraumeni syndrome [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000443630 RCV000417894 RCV000422821 RCV000434177 RCV000991149 RCV000423468 RCV000423159 RCV000427307 RCV000439901 RCV000437940 RCV000430044 RCV000418531 RCV000445266 RCV000219834 RCV000433237 RCV000424119 COSM1646857 RCV000433865 RCV000443712 RCV000422303 COSM3378346 VAR_005982 COSM241995 RCV000429221 RCV000439516 RCV000428586 RCV000435101 rs11540652 RCV000435726 CA10580924 RCV000424394 COSM241994 RCV000445145 COSM6549 RCV000440686 |
248 | R>L | Malignant neoplasm of body of uterus Medulloblastoma (mdb) upper_aerodigestive_tract thymus Ovarian serous cystadenocarcinoma Multiple myeloma Glioblastoma Myelodysplastic syndrome (mds) central_nervous_system skin Hepatocellular carcinoma B-cell chronic lymphocytic leukemia stomach Lung adenocarcinoma Myelodysplastic syndrome sporadic cancers; somatic mutation kidney Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma Medulloblastoma large_intestine prostate breast Acute myeloid leukemia Breast neoplasm Malignant melanoma of skin Li-Fraumeni syndrome [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000431663 RCV000425414 RCV000436850 RCV000430964 RCV000438849 RCV000425773 RCV000441018 RCV000419610 RCV000432999 COSM1646858 RCV000441674 RCV000445077 RCV000435488 VAR_045246 RCV000444130 RCV000418894 RCV000434831 COSM340105 RCV000421633 RCV000420936 RCV000430314 RCV000229442 RCV000420292 RCV000424795 RCV000443867 COSM11491 RCV000426089 rs11540652 RCV000444805 COSM340106 RCV000432304 RCV000436124 CA10583676 |
248 | R>P | Malignant neoplasm of body of uterus Medulloblastoma (mdb) upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Multiple myeloma Glioblastoma Myelodysplastic syndrome (mds) skin B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Lung adenocarcinoma Myelodysplastic syndrome sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Medulloblastoma Squamous cell lung carcinoma large_intestine breast Acute myeloid leukemia Li-Fraumeni syndrome Malignant melanoma of skin Breast neoplasm [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1640830 VAR_005983 COSM99020 COSM10662 COSM3356964 COSM99602 rs11540652 CA000387 |
248 | R>Q | Medulloblastoma (mdb) upper_aerodigestive_tract NS Myelodysplastic syndrome (mds) central_nervous_system skin stomach small_intestine vulva kidney Li-fraumeni syndrome 1 (lfs1) pancreas pleura haematopoietic_and_lymphoid_tissue pituitary peritoneum cervix biliary_tract liver adrenal_gland endometrium urinary_tract bone lung ovary thyroid oesophagus large_intestine prostate LFS; germline mutation and in sporadic cancers; somatic mutation breast [Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
COSM10656 CA000382 COSM120007 COSM3388183 VAR_005984 rs121912651 COSM120005 COSM1640831 |
248 | R>W | Medulloblastoma (mdb) LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on susceptibility to calpain upper_aerodigestive_tract NS Myelodysplastic syndrome (mds) skin central_nervous_system stomach vulva kidney Li-fraumeni syndrome 1 (lfs1) pancreas soft_tissue penis pleura haematopoietic_and_lymphoid_tissue cervix biliary_tract liver endometrium urinary_tract bone lung ovary thyroid oesophagus large_intestine prostate breast [Ensembl, UniProt, Cosmic] | Yes |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
rs1555525498 CA645373070 RCV000499534 |
248 | R>W | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000423993 RCV000436898 RCV000441694 RCV000438863 VAR_005985 RCV000429532 RCV000419254 RCV000427287 RCV000467567 COSM10668 RCV000444068 RCV000436273 RCV000581522 RCV000428633 rs587782082 RCV000437517 RCV000421216 RCV000426656 RCV000427933 RCV000418381 CA16603071 |
249 | R>G | Malignant neoplasm of body of uterus Medulloblastoma (mdb) upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation Pancreatic adenocarcinoma soft_tissue haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma liver urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Medulloblastoma Squamous cell lung carcinoma large_intestine breast Li-Fraumeni syndrome [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000427275 RCV000445113 RCV000430131 RCV000724753 COSM129832 RCV001857457 RCV000429077 RCV000429319 RCV000438874 RCV000131246 rs587782329 RCV000437502 RCV000439985 RCV000419850 RCV000431473 RCV000440358 COSM44091 RCV000419499 CA000391 RCV000421887 VAR_045248 RCV000421647 RCV000420497 COSM129833 |
249 | R>K | Malignant neoplasm of body of uterus Medulloblastoma (mdb) upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation Pancreatic adenocarcinoma soft_tissue haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma liver adrenal_gland Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck oesophagus Squamous cell lung carcinoma Medulloblastoma large_intestine Li-Fraumeni syndrome [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
VAR_033037 RCV000420945 RCV000419533 RCV000428988 RCV000445103 rs587782329 RCV000445070 RCV000430463 RCV000421561 CA16603070 RCV000431805 COSM3388182 RCV000437240 COSM326724 COSM1649403 RCV000429799 COSM43871 RCV000420239 RCV000422393 RCV000434651 RCV000439247 COSM326723 RCV000690948 RCV000440059 |
249 | R>M | Malignant neoplasm of body of uterus Medulloblastoma (mdb) upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation pancreas Pancreatic adenocarcinoma haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma liver urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus Medulloblastoma Squamous cell lung carcinoma large_intestine breast Li-Fraumeni syndrome [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000464372 RCV000013145 RCV000013146 VAR_005986 rs28934571 COSM10817 COSM10785 COSM131479 COSM131478 RCV000579519 CA000392 COSM3717634 COSM1646861 |
249 | R>S | upper_aerodigestive_tract NS central_nervous_system skin Hepatocellular carcinoma stomach kidney pancreas sporadic cancers; somatic mutation; does not induce SNAI1 degradation pleura haematopoietic_and_lymphoid_tissue cervix liver Hereditary cancer-predisposing syndrome urinary_tract endometrium lung salivary_gland ovary oesophagus large_intestine prostate Cancer of cervix breast Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs28934571 COSM10817 COSM10785 COSM131479 COSM131478 RCV000465003 CA16615944 COSM3717634 COSM1646861 |
249 | R>S | cervix upper_aerodigestive_tract NS liver central_nervous_system skin endometrium urinary_tract stomach lung salivary_gland kidney ovary oesophagus pancreas large_intestine prostate pleura haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001311109 RCV000424367 RCV000430687 RCV000420349 RCV000438147 RCV000441532 COSM43665 RCV000440254 COSM3403260 RCV000422597 COSM375643 RCV000431816 CA16602484 rs587782329 RCV000445262 RCV000444506 RCV000425028 RCV000440948 RCV000444945 RCV000423288 VAR_045249 COSM1728798 COSM375642 RCV000432872 RCV000433555 RCV000426063 |
249 | R>T | Malignant neoplasm of body of uterus Medulloblastoma (mdb) upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system skin Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation pancreas Pancreatic adenocarcinoma Carcinoma of esophagus Small cell lung carcinoma liver Gastric adenocarcinoma Prostate adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma Medulloblastoma prostate breast Acute myeloid leukemia Breast neoplasm [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM318149 COSM1646860 RCV000423307 RCV000417537 RCV000432948 RCV001770105 RCV000418238 RCV000443796 RCV000444809 RCV000435888 COSM318150 RCV000433563 RCV000435249 RCV000434278 RCV000440994 VAR_045250 CA000389 COSM3717635 RCV000431276 rs587782082 RCV000426167 RCV000424980 RCV000425504 RCV000432429 COSM43629 RCV000130578 |
249 | R>W | Malignant neoplasm of body of uterus Medulloblastoma (mdb) upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma skin Familial cancer of breast Hepatocellular carcinoma Lung adenocarcinoma small_intestine sporadic cancers; somatic mutation Pancreatic adenocarcinoma soft_tissue haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome endometrium urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck oesophagus Squamous cell lung carcinoma Medulloblastoma large_intestine breast Acute myeloid leukemia [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA16620620 rs1064794311 RCV000547538 COSM212112 COSM10771 VAR_047192 COSM3378345 COSM212111 COSM1646862 RCV000479937 |
250 | P>L | upper_aerodigestive_tract liver central_nervous_system skin stomach sporadic cancers; somatic mutation lung ovary thyroid pancreas oesophagus large_intestine haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1567549203 RCV000785350 |
251 | I>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492548 VAR_045257 RCV000161037 rs730882007 RCV000785277 COSM98963 CA000394 COSM10931 |
251 | I>L | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome central_nervous_system stomach Neoplasm of ovary [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA397838892 RCV000564022 COSM3849376 RCV000633326 VAR_045258 rs878854074 |
251 | I>M | lung Hereditary cancer-predisposing syndrome LFS; germline mutation Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM1709729 COSM242661 CA397838901 COSM242660 rs730882027 COSM11374 RCV000633360 |
251 | I>N | upper_aerodigestive_tract oesophagus large_intestine skin prostate haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs1555525470 RCV000575325 |
252 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121912653 COSM44769 VAR_005988 CA000398 RCV000013143 |
252 | L>P | lung peritoneum Li-fraumeni syndrome 1 (lfs1) large_intestine skin stomach LFS; germline mutation and in sporadic cancers; somatic mutation breast Li-Fraumeni syndrome 1 [Cosmic, Ensembl, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM45322 CA397838863 rs1597364185 RCV001026581 |
253 | T>A | kidney Hereditary cancer-predisposing syndrome skin breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1597364131 RCV001026586 |
253 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000785554 rs1567549129 |
254 | I>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000485986 rs746601313 RCV000573924 RCV000477424 CA001720 VAR_045273 RCV000765398 COSM44030 |
254 | I>V | sporadic cancers; somatic mutation upper_aerodigestive_tract Adrenocortical carcinoma, hereditary liver Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000525682 rs1064794309 RCV000483701 |
255 | I>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000444896 COSM43651 COSM220791 COSM220790 rs1057519995 COSM3937603 RCV000428426 RCV000425759 RCV000435616 VAR_045274 CA16603041 COSM3937604 RCV000436676 RCV000436027 RCV000418615 |
255 | I>F | Carcinoma of esophagus liver Glioblastoma central_nervous_system B-cell chronic lymphocytic leukemia Lung adenocarcinoma sporadic cancers; somatic mutation lung ovary Neoplasm of brain oesophagus pancreas large_intestine Pancreatic adenocarcinoma soft_tissue haematopoietic_and_lymphoid_tissue breast Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000422868 RCV000221023 CA10580923 COSM437490 RCV000432689 RCV000633370 COSM437491 VAR_045276 RCV000432486 RCV000441998 RCV000433813 COSM2744573 RCV000425285 COSM11244 COSM3388181 RCV000440110 rs876659675 |
255 | I>N | Carcinoma of esophagus Hereditary cancer-predisposing syndrome Glioblastoma B-cell chronic lymphocytic leukemia Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome Breast neoplasm [ClinVar, UniProt, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM1637748 RCV000428170 COSM3403258 RCV000430544 COSM10788 CA16603042 RCV000423148 VAR_045277 RCV000417507 COSM437488 RCV000441504 COSM437489 rs876659675 RCV000441277 RCV000420747 |
255 | I>S | upper_aerodigestive_tract Carcinoma of esophagus Glioblastoma central_nervous_system endometrium urinary_tract B-cell chronic lymphocytic leukemia bone Lung adenocarcinoma sporadic cancers; somatic mutation lung ovary Neoplasm of brain oesophagus Pancreatic adenocarcinoma breast Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000442535 CA16603043 RCV000437646 RCV000427837 RCV000458707 rs876659675 RCV000420641 RCV000435232 RCV000420356 COSM11181 VAR_045278 RCV000424525 |
255 | I>T | upper_aerodigestive_tract Carcinoma of esophagus liver Glioblastoma B-cell chronic lymphocytic leukemia Lung adenocarcinoma sporadic cancers; somatic mutation lung Neoplasm of brain large_intestine Pancreatic adenocarcinoma haematopoietic_and_lymphoid_tissue breast Breast neoplasm Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000219279 rs876659098 |
256 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000129326 CA000399 RCV000688741 RCV000172827 rs587781433 COSM44544 |
256 | T>A | lung Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome urinary_tract haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000633389 rs587781433 COSM45830 CA397837741 |
256 | T>P | ovary Li-fraumeni syndrome 1 (lfs1) Li-Fraumeni syndrome [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM43842 COSM1386606 COSM3378344 CA397837703 rs28934577 COSM1386605 RCV000540536 COSM3378343 |
257 | L>P | upper_aerodigestive_tract biliary_tract pancreas oesophagus large_intestine skin haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM1230109 COSM4139864 RCV000469142 COSM43530 VAR_045284 rs28934577 COSM4139865 CA000402 COSM1230108 RCV000013171 |
257 | L>Q | kidney ovary Li-Fraumeni-like syndrome liver oesophagus large_intestine LFS; germline mutation and in sporadic cancers; somatic mutation breast Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM44890 VAR_045285 rs28934577 CA000404 RCV000130981 |
257 | L>R | sporadic cancers; somatic mutation ovary Hereditary cancer-predisposing syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM173138 rs121912652 COSM2744566 COSM43568 RCV000565601 COSM3388180 CA397837685 COSM173137 RCV000785351 |
258 | E>* | lung upper_aerodigestive_tract ovary Li-fraumeni syndrome 1 (lfs1) pancreas oesophagus large_intestine Hereditary cancer-predisposing syndrome stomach Neoplasm of ovary breast [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
COSM44719 RCV000551157 COSM1268362 CA397837678 rs1060501201 COSM1268361 |
258 | E>A | upper_aerodigestive_tract ovary oesophagus large_intestine central_nervous_system soft_tissue Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
VAR_045288 COSM1564206 RCV000459389 COSM1564205 rs1060501201 COSM44168 CA16615703 |
258 | E>G | sporadic cancers; somatic mutation liver oesophagus pancreas large_intestine breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000772122 VAR_005991 rs121912652 CA000406 COSM10988 RCV000582699 RCV000013141 RCV000161071 |
258 | E>K | peritoneum upper_aerodigestive_tract liver Hereditary cancer-predisposing syndrome central_nervous_system urinary_tract endometrium skin lung ovary Li-fraumeni syndrome 1 (lfs1) thyroid oesophagus large_intestine soft_tissue haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation breast Li-Fraumeni syndrome 1 [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000563029 COSM707908 rs745425759 COSM3378342 RCV000663222 COSM707907 COSM43724 CA397837621 COSM1646864 |
259 | D>V | liver Hereditary cancer-predisposing syndrome central_nervous_system skin urinary_tract stomach lung ovary Li-fraumeni syndrome 1 (lfs1) pancreas large_intestine breast Li-Fraumeni syndrome 1 [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001869171 RCV000785271 COSM707903 COSM707902 CA397837654 COSM1646863 rs1567548929 COSM11552 |
259 | D>Y | lung ovary liver oesophagus large_intestine autonomic_ganglia Neoplasm of ovary breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
VAR_045301 RCV000213232 rs876658916 COSM44401 RCV000701990 CA10580921 |
260 | S>Y | sporadic cancers; somatic mutation cervix oesophagus Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000166683 COSM19471 COSM1236173 CA000415 COSM1236174 rs786203396 RCV000786823 |
261 | S>T | Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000236733 RCV000492279 rs879253905 |
262 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000463102 RCV000129643 CA000416 RCV001535496 rs200579969 VAR_045308 COSM44548 RCV000590725 |
262 | G>S | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome urinary_tract stomach Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1131691025 RCV000685621 COSM1646802 RCV000492458 VAR_045309 COSM216411 COSM3787442 COSM11198 CA397837253 |
262 | G>V | sporadic cancers; somatic mutation lung ovary upper_aerodigestive_tract pancreas large_intestine Hereditary cancer-predisposing syndrome central_nervous_system endometrium haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000797009 rs1597362423 |
263 | N>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs72661119 VAR_045310 CA000419 RCV000663318 RCV000132389 RCV000474969 RCV000679373 COSM45752 |
263 | N>D | sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome stomach breast Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [UniProt, Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV000633354 COSM45781 CA397837248 rs72661119 |
263 | N>H | lung Li-fraumeni syndrome 1 (lfs1) Li-Fraumeni syndrome [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs770598448 RCV000569163 CA397837212 COSM45384 |
263 | N>K | large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs1597362411 CA397837224 RCV001026915 |
263 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501194 RCV000472594 RCV000506102 |
264 | L>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555525353 RCV000575862 RCV000633364 VAR_045316 CA397837190 COSM44278 |
264 | L>P | upper_aerodigestive_tract a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA10584586 RCV000662855 VAR_045321 rs879253942 RCV000564617 COSM1610829 RCV000554509 COSM3388176 RCV000235981 COSM11011 COSM2744546 |
265 | L>P | liver Hereditary cancer-predisposing syndrome skin small_intestine lung ovary Li-fraumeni syndrome 1 (lfs1) pancreas oesophagus large_intestine LFS; germline mutation and in sporadic cancers; somatic mutation breast Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs886039855 RCV000258052 |
266 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567548223 RCV000785518 |
266 | G>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
CA658683981 rs1555525344 RCV000584005 |
266 | G>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000149050 rs193920774 COSM10867 RCV000440516 RCV000444033 RCV000255749 RCV000429269 RCV000422957 RCV000423995 RCV000424505 RCV000429720 RCV000445061 COSM1679491 RCV000492556 RCV000421625 RCV000430374 RCV000418979 RCV000418383 RCV000434273 VAR_045324 RCV000431935 CA000421 RCV000709403 RCV000436020 RCV000444063 COSM216410 RCV000441726 COSM3388174 RCV000433054 |
266 | G>E | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system skin Hepatocellular carcinoma B-cell chronic lymphocytic leukemia stomach Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue genital_tract cervix Carcinoma of esophagus biliary_tract Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome urinary_tract endometrium lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary Malignant tumor of prostate thyroid oesophagus Squamous cell lung carcinoma large_intestine prostate breast Breast neoplasm Malignant melanoma of skin Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000444661 RCV000439191 RCV000421105 RCV000435860 COSM318165 RCV000431795 RCV000426755 RCV000426767 RCV000422610 RCV000425613 RCV000431342 RCV000432420 COSM1645293 CA16603026 RCV000419323 RCV000420436 RCV000437000 rs1057519990 RCV000430688 COSM1559475 COSM10794 RCV000439845 RCV000441587 RCV000419956 COSM3388175 COSM11205 |
266 | G>R | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma skin central_nervous_system B-cell chronic lymphocytic leukemia Hepatocellular carcinoma stomach Lung adenocarcinoma Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue peritoneum Carcinoma of esophagus biliary_tract Small cell lung carcinoma liver endometrium urinary_tract lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine breast Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs1057519990 COSM1645293 COSM1559475 COSM318165 COSM10794 VAR_045325 CA397837142 COSM3388175 COSM11205 RCV000528667 |
266 | G>R | peritoneum upper_aerodigestive_tract biliary_tract liver central_nervous_system skin endometrium urinary_tract stomach sporadic cancers; somatic mutation lung ovary pancreas oesophagus large_intestine haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
VAR_045326 RCV000444283 rs193920774 RCV000417840 RCV000444359 RCV000428065 RCV000437591 RCV000220597 RCV000445304 RCV000440058 RCV000424659 RCV000423426 RCV000435298 RCV000433685 RCV000434748 COSM10958 RCV000422392 RCV000429134 COSM3388173 COSM1646803 RCV000422798 RCV000427379 RCV000434911 RCV001854689 COSM99952 CA10580919 RCV000439374 |
266 | G>V | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Lung adenocarcinoma sporadic cancers; somatic mutation kidney Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome endometrium lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma large_intestine breast Breast neoplasm Malignant melanoma of skin Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
COSM707909 rs587780075 CA397837115 COSM11392 RCV000492273 VAR_045329 COSM1646804 RCV000691629 COSM3403257 |
267 | R>P | sporadic cancers; somatic mutation lung ovary upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) liver pancreas large_intestine Hereditary cancer-predisposing syndrome central_nervous_system breast Li-Fraumeni syndrome [UniProt, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
CA000424 VAR_045330 rs587780075 COSM3691863 COSM3691864 COSM1290766 COSM43923 |
267 | R>Q | lung ovary Li-fraumeni syndrome 1 (lfs1) oesophagus large_intestine urinary_tract central_nervous_system stomach haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation breast [Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
rs1597362182 CA397837101 RCV001027082 |
268 | N>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2073203788 RCV001203079 |
270 | F>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567548114 RCV000785457 |
270 | F>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130388 rs587781987 |
270 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000424190 COSM1522199 RCV000440467 RCV000422786 RCV000433925 RCV001805037 RCV000432351 CA16603019 COSM43621 VAR_045341 RCV000422121 RCV000434574 rs1057519986 RCV000443933 RCV000441020 |
270 | F>C | upper_aerodigestive_tract Carcinoma of esophagus Ovarian serous cystadenocarcinoma Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck ovary Neoplasm of brain oesophagus Squamous cell lung carcinoma large_intestine breast Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000436003 RCV000430718 RCV000436185 RCV000425994 COSM43809 COSM437484 RCV000417883 VAR_045342 rs1057519988 RCV000418371 RCV000427865 RCV000417655 COSM1646805 COSM3937598 RCV000438999 CA16603018 |
270 | F>I | Carcinoma of esophagus Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck Neoplasm of brain oesophagus Squamous cell lung carcinoma large_intestine breast Breast neoplasm [ClinVar, UniProt, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000426634 COSM165083 RCV000442796 RCV000434093 RCV000426445 COSM44262 RCV000433231 COSM45297 rs1057519987 RCV000443660 CA16603017 RCV000423824 RCV000438906 RCV000432152 VAR_045343 COSM44156 |
270 | F>L | upper_aerodigestive_tract Carcinoma of esophagus biliary_tract Ovarian serous cystadenocarcinoma central_nervous_system urinary_tract stomach Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck ovary Neoplasm of brain oesophagus Squamous cell lung carcinoma large_intestine haematopoietic_and_lymphoid_tissue breast Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM11305 CA16603016 RCV000429016 RCV000429241 RCV000418965 RCV000437299 RCV000439252 COSM437483 RCV000438621 RCV000426140 VAR_045344 RCV000481465 RCV000419602 rs1057519986 RCV000421032 |
270 | F>S | upper_aerodigestive_tract Carcinoma of esophagus Ovarian serous cystadenocarcinoma central_nervous_system Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Squamous cell carcinoma of the head and neck ovary Neoplasm of brain pancreas oesophagus Squamous cell lung carcinoma large_intestine haematopoietic_and_lymphoid_tissue breast Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000420461 CA16603020 VAR_045345 RCV000438306 RCV000430671 COSM1522198 RCV000443210 RCV000443062 RCV000435460 RCV001027160 rs1057519988 RCV000435260 RCV000425222 COSM44956 RCV000425855 |
270 | F>V | Carcinoma of esophagus Ovarian serous cystadenocarcinoma liver Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma testis Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck Neoplasm of brain Squamous cell lung carcinoma large_intestine soft_tissue Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV001061445 rs1567548114 |
271 | E>* | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA658656541 rs1555525303 RCV000570036 |
271 | E>DM | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM10719 CA16615939 VAR_036508 COSM254988 RCV000457572 COSM3403256 COSM1646807 rs1060501191 |
271 | E>K | cervix upper_aerodigestive_tract biliary_tract liver urinary_tract central_nervous_system sporadic cancers; somatic mutation lung ovary oesophagus pancreas large_intestine haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000689318 rs1567548090 CA891844042 |
271 | E>L | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA397836997 RCV000685555 rs876660333 COSM44294 |
272 | V>A | Medulloblastoma (mdb) liver pancreas endometrium central_nervous_system soft_tissue stomach breast Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome [Ensembl, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
VAR_045352 RCV000433521 CA16603087 COSM3958804 RCV000424786 RCV000429369 RCV000423493 RCV000444340 rs876660333 RCV000422825 RCV000442953 RCV000421804 RCV000440060 COSM44580 COSM3958803 RCV000427639 COSM3958805 RCV000442761 RCV000438331 RCV000434183 |
272 | V>E | Malignant neoplasm of body of uterus Medulloblastoma (mdb) upper_aerodigestive_tract Renal cell carcinoma, papillary, 1 Ovarian serous cystadenocarcinoma Multiple myeloma skin Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck Medulloblastoma Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM44870 RCV000431226 rs876660333 RCV000441467 VAR_045353 RCV000419845 RCV000220536 RCV000421439 CA10580918 RCV000422297 RCV000444129 RCV000439065 RCV000441216 RCV000421184 RCV000427960 RCV000420090 RCV000430105 RCV000432569 |
272 | V>G | Malignant neoplasm of body of uterus Medulloblastoma (mdb) Renal cell carcinoma, papillary, 1 Ovarian serous cystadenocarcinoma Multiple myeloma Hereditary cancer-predisposing syndrome endometrium skin Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck ovary pancreas Medulloblastoma large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM10859 COSM3773300 COSM45898 COSM1177737 rs121912657 RCV000696673 COSM2744536 CA397837009 COSM212313 |
272 | V>L | Medulloblastoma (mdb) upper_aerodigestive_tract endometrium stomach lung ovary Li-fraumeni syndrome 1 (lfs1) thyroid pancreas oesophagus large_intestine breast Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome [Ensembl, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
COSM10859 RCV000420507 RCV000417682 RCV000013152 rs121912657 COSM2744536 COSM212313 RCV000431193 RCV000437706 RCV000439021 CA000430 RCV000437100 RCV000443589 RCV000432989 RCV000443570 RCV000428361 RCV000427077 RCV000434905 COSM3773300 COSM45898 COSM1177737 RCV000426429 RCV000164988 VAR_005992 |
272 | V>L | Malignant neoplasm of body of uterus Medulloblastoma (mdb) upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Multiple myeloma stomach Lung adenocarcinoma Li-fraumeni syndrome 1 (lfs1) pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine Li-Fraumeni syndrome 1 Renal cell carcinoma, papillary, 1 Hereditary cancer-predisposing syndrome endometrium Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary thyroid oesophagus Medulloblastoma large_intestine LFS; germline mutation and in sporadic cancers; somatic mutation breast Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000426406 RCV000434621 RCV000165304 RCV000457645 RCV000441086 rs121912657 RCV000443071 RCV000425268 RCV000443052 RCV000424351 COSM10891 RCV000418746 RCV000424542 RCV000436602 COSM1645249 RCV000436402 VAR_045354 RCV000434295 COSM99950 RCV000432177 CA000427 COSM3388172 |
272 | V>M | Malignant neoplasm of body of uterus Medulloblastoma (mdb) upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Multiple myeloma central_nervous_system stomach Lung adenocarcinoma vulva sporadic cancers; somatic mutation kidney Li-fraumeni syndrome 1 (lfs1) pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 liver Hereditary cancer-predisposing syndrome endometrium urinary_tract bone Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary oesophagus Medulloblastoma large_intestine breast Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome Breast neoplasm [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000813368 rs1597362004 |
273 | R>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3355991 CA000432 rs121913343 COSM1645518 VAR_005993 COSM10659 COSM99933 |
273 | R>C | Medulloblastoma (mdb) upper_aerodigestive_tract skin central_nervous_system stomach small_intestine vulva kidney Li-fraumeni syndrome 1 (lfs1) pancreas penis haematopoietic_and_lymphoid_tissue genital_tract cervix biliary_tract liver adrenal_gland endometrium urinary_tract bone lung ovary thyroid oesophagus large_intestine prostate LFS; germline mutation and in sporadic cancers; somatic mutation breast [Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
COSM1645335 COSM10660 CA000434 COSM99729 rs28934576 VAR_005995 COSM3356963 |
273 | R>H | Medulloblastoma (mdb) upper_aerodigestive_tract thymus LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation central_nervous_system skin stomach vulva Li-fraumeni syndrome 1 (lfs1) pancreas penis soft_tissue haematopoietic_and_lymphoid_tissue fallopian_tube genital_tract cervix biliary_tract liver urinary_tract endometrium bone lung ovary oesophagus large_intestine breast [Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM3675521 VAR_036509 CA001530 COSM10779 COSM318169 rs28934576 COSM1640828 |
273 | R>L | Medulloblastoma (mdb) upper_aerodigestive_tract liver central_nervous_system endometrium skin urinary_tract stomach lung ovary Li-fraumeni syndrome 1 (lfs1) pancreas oesophagus large_intestine haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation breast [Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM1646808 RCV000418732 RCV000436356 rs28934576 RCV000553607 CA10580917 COSM165077 RCV000419898 RCV000429434 RCV000437377 RCV000421059 RCV000427811 RCV000431835 RCV000426712 RCV000426561 RCV000440313 RCV000437116 RCV000439246 RCV000434099 RCV000427328 RCV000419080 RCV000419328 RCV000429654 RCV000444938 RCV000442511 RCV000431744 RCV000420123 VAR_045355 RCV000422030 RCV000439039 RCV000222860 COSM43896 |
273 | R>P | Malignant neoplasm of body of uterus Medulloblastoma (mdb) Adrenal cortex carcinoma upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Multiple myeloma Glioblastoma central_nervous_system Hepatocellular carcinoma B-cell chronic lymphocytic leukemia stomach Lung adenocarcinoma Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue cervix Carcinoma of esophagus Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome Gastric adenocarcinoma sporadic cancers; somatic mutation; no effect on susceptibility to calpain Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma Medulloblastoma large_intestine breast Acute myeloid leukemia Li-Fraumeni syndrome Malignant melanoma of skin Breast neoplasm [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM3958802 RCV000440794 COSM417971 RCV000424918 RCV000430119 RCV000431180 RCV000425669 RCV000445314 COSM3958801 rs121913343 CA001542 RCV000445287 RCV000432372 RCV000435074 RCV000561782 RCV000418085 RCV000427515 RCV000422795 RCV000433489 RCV000420280 VAR_045357 RCV000436543 RCV000435480 RCV000420482 RCV000422550 RCV000439774 RCV000440997 RCV000698744 RCV000431455 RCV000438218 RCV000444595 RCV000427884 COSM43909 |
273 | R>S | Malignant neoplasm of body of uterus Medulloblastoma (mdb) Adrenal cortex carcinoma Ovarian serous cystadenocarcinoma Glioblastoma Multiple myeloma B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Lung adenocarcinoma Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation haematopoietic_and_lymphoid_tissue Carcinoma of esophagus biliary_tract Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome endometrium urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung salivary_gland Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary Medulloblastoma Squamous cell lung carcinoma large_intestine Acute myeloid leukemia Li-Fraumeni syndrome Breast neoplasm Malignant melanoma of skin [ClinVar, Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1567547933 RCV000697629 |
274 | V>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000427353 RCV000433292 RCV000432482 RCV000443517 VAR_045358 COSM1640826 rs1057520006 COSM44393 COSM131453 RCV000444136 RCV000420150 RCV000426772 RCV000437438 COSM3701290 RCV000426067 RCV000438006 RCV000421817 CA16603091 |
274 | V>A | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Small cell lung carcinoma liver skin Hepatocellular carcinoma stomach Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation lung ovary Neoplasm of brain pancreas oesophagus large_intestine Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine breast Malignant melanoma of skin Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000434236 CA16603089 RCV000419239 COSM44448 RCV000424200 RCV000441480 RCV000443884 rs1057520006 RCV000424885 VAR_045359 COSM1640827 RCV000431443 RCV000443016 RCV000436477 RCV000425563 RCV000432106 COSM165076 |
274 | V>D | Ovarian serous cystadenocarcinoma Small cell lung carcinoma urinary_tract Hepatocellular carcinoma stomach Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation lung ovary Neoplasm of brain large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000440120 RCV000428932 RCV000430114 COSM1679490 VAR_005997 COSM10769 COSM165075 COSM3388171 RCV000418736 CA16603088 RCV000419355 RCV000423526 RCV000436116 rs1057520005 RCV000429450 RCV000440773 RCV000418237 RCV000435470 |
274 | V>F | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Small cell lung carcinoma liver adrenal_gland urinary_tract Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation lung ovary Neoplasm of brain pancreas oesophagus large_intestine Pancreatic adenocarcinoma prostate Neoplasm of the large intestine breast Breast neoplasm Malignant melanoma of skin [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000419865 RCV000431168 RCV000439046 RCV000431803 RCV000441279 COSM241993 rs1057520006 RCV000437117 RCV000430539 COSM43945 RCV000692432 RCV000438367 RCV000492506 RCV000420544 CA16603090 RCV000426446 RCV000421122 VAR_047200 |
274 | V>G | Ovarian serous cystadenocarcinoma Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome endometrium Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation lung ovary Neoplasm of brain large_intestine Pancreatic adenocarcinoma prostate Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Malignant melanoma of skin Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000435261 CA16603092 RCV000420871 RCV000422877 RCV000428087 COSM44443 RCV000439367 VAR_045361 RCV000440106 RCV000429377 RCV000701251 RCV000422166 COSM172146 rs1057520005 RCV000418040 RCV000433566 RCV000428696 |
274 | V>L | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Small cell lung carcinoma urinary_tract Hepatocellular carcinoma stomach Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma sporadic cancers; somatic mutation ovary Neoplasm of brain large_intestine Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine Li-Fraumeni syndrome Malignant melanoma of skin Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV001310213 rs1555525279 |
275 | C>* | Li-Fraumeni syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000434455 CA16603006 COSM1637959 RCV000418840 RCV000440235 RCV000431612 RCV000423016 RCV000420903 RCV000442601 RCV000441652 RCV000441009 VAR_045362 RCV000436058 COSM3723938 RCV000429558 rs863224451 RCV000423743 COSM10701 RCV000432328 RCV000425095 RCV000785323 RCV000428868 COSM99932 RCV001861482 RCV000430324 |
275 | C>F | Adrenal cortex carcinoma upper_aerodigestive_tract Ovarian serous cystadenocarcinoma NS Glioblastoma Multiple myeloma central_nervous_system B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 Carcinoma of esophagus biliary_tract liver bone lung Squamous cell carcinoma of the head and neck ovary oesophagus large_intestine Neoplasm of ovary breast Renal cell carcinoma, papillary, 1 (rccp1) Malignant melanoma of skin Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000418020 RCV001183954 RCV000424757 RCV000435015 RCV000440640 RCV000433579 RCV000430390 rs1057519983 RCV000441393 RCV000443110 VAR_045364 RCV000420853 COSM43902 CA16603008 RCV000442259 RCV000431136 RCV000420225 RCV000432909 RCV000435695 RCV000425483 RCV000426139 |
275 | C>R | Adrenal cortex carcinoma Ovarian serous cystadenocarcinoma Multiple myeloma Glioblastoma central_nervous_system B-cell chronic lymphocytic leukemia Hepatocellular carcinoma stomach Lung adenocarcinoma small_intestine sporadic cancers; somatic mutation Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Renal cell carcinoma, papillary, 1 Hereditary cancer-predisposing syndrome lung Squamous cell carcinoma of the head and neck oesophagus large_intestine Renal cell carcinoma, papillary, 1 (rccp1) Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000419235 RCV000441019 COSM1167915 RCV000580293 CA16603007 RCV000419912 RCV000441335 COSM1728541 RCV000430590 COSM45413 RCV000437115 rs863224451 RCV000425744 RCV000436480 RCV000438476 RCV000420599 VAR_045365 RCV000434260 RCV000426441 RCV000441960 RCV000423341 RCV000431286 RCV000423990 |
275 | C>S | Adrenal cortex carcinoma Renal cell carcinoma, papillary, 1 Carcinoma of esophagus Ovarian serous cystadenocarcinoma liver Glioblastoma Hereditary cancer-predisposing syndrome Multiple myeloma urinary_tract skin B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
|
COSM43823 RCV000561423 VAR_005999 CA397836936 rs1555525279 RCV000785448 |
275 | C>W | sporadic cancers; somatic mutation upper_aerodigestive_tract oesophagus large_intestine Hereditary cancer-predisposing syndrome central_nervous_system skin stomach Neoplasm of ovary breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000435410 RCV000439892 RCV000433358 RCV000418175 RCV000423497 RCV000422663 COSM10893 VAR_005998 COSM165084 CA337141 RCV000443293 RCV000427629 RCV000568594 rs863224451 RCV000438333 COSM3403255 RCV000235315 RCV000442329 RCV000439245 RCV000442357 RCV000429197 COSM2744531 RCV000197359 RCV000434190 RCV000422025 RCV000424784 |
275 | C>Y | Adrenal cortex carcinoma upper_aerodigestive_tract Ovarian serous cystadenocarcinoma NS Glioblastoma Multiple myeloma skin central_nervous_system B-cell chronic lymphocytic leukemia Hepatocellular carcinoma stomach Lung adenocarcinoma Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 Carcinoma of esophagus biliary_tract liver Hereditary cancer-predisposing syndrome urinary_tract bone lung Squamous cell carcinoma of the head and neck ovary oesophagus large_intestine prostate LFS; germline mutation and in sporadic cancers; somatic mutation breast Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm Malignant melanoma of skin Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs786202082 COSM393936 CA10580916 VAR_045366 RCV000236401 COSM1732585 COSM45268 RCV000223364 |
276 | A>D | sporadic cancers; somatic mutation lung NS oesophagus Hereditary cancer-predisposing syndrome urinary_tract central_nervous_system breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs786202082 RCV000164718 COSM45695 VAR_045367 CA000436 |
276 | A>G | sporadic cancers; somatic mutation lung upper_aerodigestive_tract Hereditary cancer-predisposing syndrome stomach [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000705570 VAR_045368 COSM3937594 COSM3937595 COSM308313 RCV000492584 CA397836931 COSM43663 rs1131691029 |
276 | A>P | thymus biliary_tract Hereditary cancer-predisposing syndrome skin endometrium urinary_tract bone sporadic cancers; somatic mutation kidney ovary oesophagus large_intestine soft_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA001518 RCV000532028 COSM1649337 COSM562338 rs763098116 COSM10749 VAR_045372 |
277 | C>F | sporadic cancers; somatic mutation lung cervix ovary upper_aerodigestive_tract oesophagus skin urinary_tract central_nervous_system haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000420739 RCV000430547 COSM1646809 RCV000433017 RCV000437992 RCV000438674 VAR_006001 RCV000439356 RCV000426460 CA16603062 RCV000419216 RCV000437350 COSM3717626 COSM10814 RCV000441270 RCV000427997 rs17849781 COSM99725 RCV000688854 RCV000567850 RCV000422309 RCV000417926 |
278 | P>A | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Multiple myeloma central_nervous_system Lung adenocarcinoma sporadic cancers; somatic mutation kidney Neoplasm of brain Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus biliary_tract liver Hereditary cancer-predisposing syndrome urinary_tract lung Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine breast Malignant melanoma of skin Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM43755 VAR_006002 rs876659802 COSM3388170 RCV000443564 COSM333585 RCV000428293 RCV000433513 RCV000427682 RCV000417607 RCV000420265 RCV000433712 COSM1649338 RCV000422133 RCV000444453 RCV000633329 RCV000435517 RCV000426301 RCV000424797 RCV000437485 CA16603063 |
278 | P>H | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Multiple myeloma central_nervous_system Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus adrenal_gland lung Squamous cell carcinoma of the head and neck ovary Squamous cell lung carcinoma large_intestine prostate breast Li-Fraumeni syndrome Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM1646812 RCV000433311 COSM3378341 RCV000421915 rs876659802 RCV000430442 RCV000424153 RCV000434963 RCV000417969 VAR_006003 RCV000443824 RCV000440687 RCV000439555 CA10580915 RCV000428205 COSM129831 RCV000423023 RCV000419043 COSM10863 RCV000429345 RCV000214784 |
278 | P>L | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Multiple myeloma skin central_nervous_system stomach Lung adenocarcinoma kidney Neoplasm of brain pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus liver Hereditary cancer-predisposing syndrome lung Squamous cell carcinoma of the head and neck ovary thyroid oesophagus Squamous cell lung carcinoma large_intestine LFS; germline mutation and in sporadic cancers; somatic mutation breast Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000443990 RCV000431661 RCV000420956 rs876659802 RCV000572417 CA16603061 COSM10887 RCV000432244 RCV000423863 RCV000444083 RCV000441126 RCV000443337 RCV000425930 COSM300205 RCV000424036 COSM3773296 RCV000431945 RCV000431305 RCV000426582 RCV000681956 VAR_045376 COSM1646811 |
278 | P>R | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Multiple myeloma skin central_nervous_system stomach Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Hereditary cancer-predisposing syndrome lung Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine breast Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000432977 CA16603059 RCV000427714 VAR_006004 RCV000427094 RCV000435645 RCV000522600 RCV000432228 RCV000437941 RCV000433428 COSM3773297 RCV000444293 COSM10939 RCV000562528 RCV000443572 RCV000439725 RCV000442821 RCV000421997 rs17849781 RCV000426679 COSM1646810 COSM139044 RCV000633344 |
278 | P>S | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Multiple myeloma skin central_nervous_system stomach Lung adenocarcinoma Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus liver Hereditary cancer-predisposing syndrome urinary_tract lung eye Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine LFS; germline mutation and in sporadic cancers; somatic mutation breast Malignant melanoma of skin Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000436548 RCV000442861 RCV000429149 RCV000435065 RCV000442983 RCV000425201 RCV000437214 COSM368635 RCV000429755 RCV000419944 CA16603060 RCV000418460 COSM3421931 RCV000425878 RCV000440415 RCV000626445 COSM43697 RCV000433992 RCV000785511 rs17849781 COSM3421932 VAR_006005 |
278 | P>T | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Multiple myeloma central_nervous_system skin Lung adenocarcinoma kidney Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus liver endometrium lung Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine Neoplasm of ovary LFS; germline mutation and in sporadic cancers; somatic mutation breast Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs786204061 RCV000167926 |
278 | P>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492354 COSM3701289 COSM3701288 RCV000484876 RCV000785274 rs1064793881 RCV000584418 CA16620616 COSM43714 VAR_006006 RCV000989709 COSM99732 |
279 | G>E | upper_aerodigestive_tract liver Hereditary cancer-predisposing syndrome central_nervous_system skin urinary_tract bone small_intestine sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck ovary oesophagus large_intestine Neoplasm of ovary haematopoietic_and_lymphoid_tissue breast [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
VAR_045377 rs1555525248 COSM44603 CA397836877 RCV000547189 RCV000566142 COSM46298 COSM417973 |
279 | G>R | sporadic cancers; somatic mutation lung peritoneum ovary liver large_intestine Hereditary cancer-predisposing syndrome urinary_tract skin Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1567547721 RCV000772426 |
280 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000439157 RCV000420625 VAR_045380 RCV000439619 RCV000436708 COSM562339 RCV000445156 RCV000426479 RCV000568150 RCV000424417 RCV000419917 RCV000435565 RCV000431582 RCV000438255 rs753660142 COSM11123 RCV000421324 RCV000706131 RCV000430194 RCV000439812 RCV000418465 RCV000429590 COSM3378442 COSM1649339 CA16603073 RCV000427170 |
280 | R>G | thymus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix central_nervous_system Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain pancreas haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary Squamous cell lung carcinoma Nasopharyngeal neoplasm Acute myeloid leukemia Breast neoplasm Malignant melanoma of skin Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000129588 rs587781564 |
280 | R>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000437418 RCV000435871 COSM1646813 COSM3723939 RCV000425612 rs121912660 RCV000438665 CA000447 COSM11287 RCV000434436 COSM562340 RCV000149052 RCV000434213 RCV000427666 RCV000438915 RCV000429336 VAR_006008 RCV000426315 RCV000421544 RCV000419067 RCV000417523 RCV000428657 RCV000633330 RCV000419744 RCV000445006 RCV000442289 |
280 | R>I | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary Malignant tumor of prostate Squamous cell lung carcinoma large_intestine Nasopharyngeal neoplasm prostate breast Acute myeloid leukemia Breast neoplasm Malignant melanoma of skin Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM10728 RCV000423739 rs121912660 RCV000440980 COSM129830 RCV000423933 COSM3522694 RCV000425366 VAR_006007 RCV000444610 RCV000633356 RCV000436528 COSM1659144 RCV000433708 RCV000492483 RCV000436148 RCV000433592 RCV000431165 CA16603072 RCV000418023 RCV000438568 RCV000442077 RCV000423448 RCV000428952 RCV000428734 RCV000444685 |
280 | R>K | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix central_nervous_system skin Hepatocellular carcinoma stomach Lung adenocarcinoma Neoplasm of brain haematopoietic_and_lymphoid_tissue Carcinoma of esophagus biliary_tract Small cell lung carcinoma Hereditary cancer-predisposing syndrome urinary_tract endometrium Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary oesophagus Squamous cell lung carcinoma large_intestine a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2 Nasopharyngeal neoplasm prostate breast Acute myeloid leukemia Malignant melanoma of skin Li-Fraumeni syndrome Breast neoplasm [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1567547687 RCV001270277 |
280 | R>S | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397836838 COSM3820707 rs1567547687 COSM44233 RCV000785449 COSM3820708 COSM44171 COSM1582360 |
280 | R>S | lung ovary upper_aerodigestive_tract liver oesophagus urinary_tract stomach Neoplasm of ovary haematopoietic_and_lymphoid_tissue breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM10724 RCV000013167 RCV000440816 RCV000432716 RCV000423074 RCV000428404 COSM3733332 rs121912660 RCV000445307 RCV000434981 RCV000198779 RCV000422958 CA000445 RCV000424688 RCV000431210 RCV000441513 RCV000441912 VAR_006009 RCV000432461 RCV000422446 RCV000437764 COSM1649340 RCV000429718 COSM254987 RCV000420086 RCV000418209 |
280 | R>T | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix skin central_nervous_system Hepatocellular carcinoma stomach Lung adenocarcinoma small_intestine sporadic cancers; somatic mutation Nasopharyngeal carcinoma Neoplasm of brain haematopoietic_and_lymphoid_tissue Carcinoma of esophagus vagina biliary_tract Small cell lung carcinoma urinary_tract Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Squamous cell lung carcinoma large_intestine Nasopharyngeal neoplasm prostate breast Acute myeloid leukemia Li-Fraumeni syndrome Breast neoplasm Malignant melanoma of skin [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1555525226 RCV000570263 |
281 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567547661 RCV000691758 |
281 | D>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000435784 RCV000417517 rs587781525 RCV000438210 RCV000427537 COSM11665 RCV000422679 RCV000440602 RCV000430790 CA16603011 RCV000424893 VAR_006010 RCV000435611 RCV000442965 RCV000429708 RCV000433406 RCV000440361 RCV000442214 RCV000420104 RCV000425979 RCV000443934 RCV000419849 |
281 | D>A | Malignant neoplasm of body of uterus upper_aerodigestive_tract Renal cell carcinoma, papillary, 1 Ovarian serous cystadenocarcinoma Multiple myeloma Glioblastoma central_nervous_system Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Gastric adenocarcinoma Lung adenocarcinoma Neuroblastoma sporadic cancers; somatic mutation Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Squamous cell lung carcinoma Pancreatic adenocarcinoma Renal cell carcinoma, papillary, 1 (rccp1) Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000430093 RCV000417671 COSM1324810 CA10590135 RCV000443254 RCV000432322 RCV000432958 RCV000430695 COSM1740369 COSM43837 RCV000440370 RCV000424902 RCV000438151 RCV000633352 RCV000431703 COSM3378340 RCV000420516 COSM1649343 RCV000443165 rs1057519984 COSM562342 RCV000440974 COSM43906 RCV000424389 RCV000422714 RCV000439711 RCV000419836 RCV000422083 |
281 | D>E | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma Multiple myeloma skin central_nervous_system B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Neuroblastoma Lung adenocarcinoma pancreas Pancreatic adenocarcinoma haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 liver urinary_tract endometrium Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary Squamous cell lung carcinoma prostate breast Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000658764 COSM562342 COSM1324810 RCV000499361 CA16615937 RCV000470818 COSM43906 COSM1740369 COSM3378340 COSM1649343 VAR_006011 COSM43837 rs1057519984 |
281 | D>E | Carcinoma of colon upper_aerodigestive_tract liver urinary_tract endometrium skin central_nervous_system sporadic cancers; somatic mutation lung ovary pancreas prostate haematopoietic_and_lymphoid_tissue breast Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000423760 RCV000441016 RCV000633367 RCV000436592 rs587781525 RCV000418257 RCV000434395 RCV000438583 RCV000426980 CA000450 RCV000431187 RCV000442813 COSM1640825 RCV000428043 RCV000435472 RCV000425885 RCV000423959 RCV000129516 RCV000442068 RCV000436807 RCV000429146 RCV000433596 VAR_006012 COSM1640824 COSM11232 RCV000418481 |
281 | D>G | Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Multiple myeloma Glioblastoma Hepatocellular carcinoma B-cell chronic lymphocytic leukemia stomach Lung adenocarcinoma Neuroblastoma Pancreatic adenocarcinoma haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary Squamous cell lung carcinoma large_intestine breast Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000568716 rs1555525215 |
281 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1158315 RCV000418744 VAR_006013 CA16603010 RCV000427301 rs764146326 RCV000429459 COSM10943 RCV000443566 RCV000428355 RCV000423682 COSM2152580 RCV000439212 RCV000421295 RCV000420094 RCV000438193 RCV000434610 RCV000429671 RCV000439019 RCV000436837 RCV000419869 RCV000427507 RCV000437082 RCV000422034 COSM3388352 |
281 | D>H | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Multiple myeloma Glioblastoma central_nervous_system B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Neuroblastoma Lung adenocarcinoma sporadic cancers; somatic mutation pancreas Pancreatic adenocarcinoma haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 liver urinary_tract bone Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary Squamous cell lung carcinoma large_intestine breast Renal cell carcinoma, papillary, 1 (rccp1) Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM1649341 RCV000438896 RCV000442054 RCV000426180 RCV000421233 RCV000437075 RCV000422096 RCV000428837 RCV000429505 CA001503 RCV000439749 RCV000424002 RCV000431489 RCV000434267 RCV000443405 COSM3932743 RCV000418705 COSM43596 COSM146336 RCV000443489 RCV000426863 RCV000436424 rs764146326 VAR_047202 RCV000428968 |
281 | D>N | Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Glioblastoma Multiple myeloma skin central_nervous_system Hepatocellular carcinoma B-cell chronic lymphocytic leukemia stomach Lung adenocarcinoma Neuroblastoma Pancreatic adenocarcinoma haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 biliary_tract liver endometrium urinary_tract Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma autonomic_ganglia large_intestine LFS; germline mutation and in sporadic cancers; somatic mutation breast Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000438736 rs587781525 RCV000434194 RCV000442104 CA000452 RCV000441595 RCV000443096 COSM1649342 COSM45729 RCV000431328 VAR_006014 RCV000423186 RCV000428503 RCV000433464 RCV000440916 RCV000432892 COSM562341 RCV000425401 RCV000435682 RCV000418100 RCV000417569 RCV000215048 RCV000426125 RCV000435739 RCV000161072 RCV000423894 |
281 | D>V | Malignant neoplasm of body of uterus Renal cell carcinoma, papillary, 1 Ovarian serous cystadenocarcinoma Hereditary cancer-predisposing syndrome Multiple myeloma Glioblastoma Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Gastric adenocarcinoma Neuroblastoma Lung adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Squamous cell lung carcinoma large_intestine Pancreatic adenocarcinoma a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation breast Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM1646814 RCV000419880 RCV000431847 RCV000440017 RCV000419187 RCV000437480 COSM214193 RCV000427237 COSM3820706 RCV000430133 RCV000442319 RCV000421597 CA16603009 RCV000442636 VAR_045383 COSM11516 RCV000422382 RCV000443331 RCV000432647 RCV000424398 RCV000429763 RCV000438115 RCV000422971 rs764146326 RCV000436876 |
281 | D>Y | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma Multiple myeloma Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Neuroblastoma Lung adenocarcinoma sporadic cancers; somatic mutation kidney Pancreatic adenocarcinoma haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 liver endometrium Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma breast Renal cell carcinoma, papillary, 1 (rccp1) Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1567547066 RCV000785250 |
282 | R>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492443 rs1131691027 |
282 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000437895 RCV000430047 RCV000422747 RCV000431764 RCV000440653 RCV000445294 RCV000440446 RCV000419993 RCV000422134 COSM3675520 VAR_045384 CA000453 RCV000432433 RCV000425179 RCV000419333 RCV000430393 RCV000442540 RCV000427647 rs28934574 COSM99934 RCV000435503 COSM1725698 COSM10992 RCV000442627 RCV000422367 RCV000129010 RCV000437219 |
282 | R>G | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma skin Hepatocellular carcinoma stomach Lung adenocarcinoma Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 Carcinoma of esophagus liver Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung Non-Hodgkin lymphoma Squamous cell carcinoma of the head and neck oesophagus Squamous cell lung carcinoma large_intestine LFS; germline mutation and in sporadic cancers; somatic mutation breast Renal cell carcinoma, papillary, 1 (rccp1) Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
CA000456 COSM44470 VAR_006015 rs730882008 RCV000161038 RCV000213059 RCV000633381 |
282 | R>L | sporadic cancers; somatic mutation liver large_intestine Hereditary cancer-predisposing syndrome skin Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
|
COSM3958797 RCV000423789 RCV000438637 RCV000419006 RCV000434763 RCV000435036 RCV000426071 RCV000433722 RCV000428608 RCV000417919 rs730882008 RCV000417824 COSM44306 RCV000442220 RCV000424978 RCV000423005 RCV000427957 RCV000709402 CA16603074 RCV000440221 RCV000425389 RCV000441861 RCV000432620 COSM3958798 COSM117157 VAR_045386 RCV000492764 RCV000441023 |
282 | R>P | Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Glioblastoma Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Renal cell carcinoma, papillary, 1 Carcinoma of esophagus Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung Non-Hodgkin lymphoma Squamous cell carcinoma of the head and neck ovary oesophagus Squamous cell lung carcinoma large_intestine breast Renal cell carcinoma, papillary, 1 (rccp1) Malignant melanoma of skin Breast neoplasm Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000442231 COSM99925 RCV000144670 RCV000424430 RCV000722016 RCV000433225 RCV000441472 RCV000210145 RCV000013161 RCV000422920 COSM10704 RCV000148905 COSM1636702 RCV000430759 RCV000417906 COSM3378339 RCV000431084 RCV000432561 RCV000425909 RCV000435581 RCV000444544 RCV000444687 RCV000437607 RCV000423580 rs28934574 RCV000426680 RCV000420798 VAR_006016 RCV000434706 RCV000236400 CA000454 RCV000436175 |
282 | R>W | Malignant neoplasm of body of uterus upper_aerodigestive_tract thymus Ovarian serous cystadenocarcinoma Glioblastoma central_nervous_system skin Hepatocellular carcinoma stomach Astrocytoma, anaplastic Lung adenocarcinoma vulva Li-fraumeni syndrome 1 (lfs1) Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 peritoneum Carcinoma of esophagus Renal cell carcinoma, papillary, 1 biliary_tract liver Hereditary cancer-predisposing syndrome LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation urinary_tract endometrium bone Gastric adenocarcinoma Prostate adenocarcinoma lung salivary_gland Non-Hodgkin lymphoma Squamous cell carcinoma of the head and neck ovary Li-Fraumeni-like syndrome thyroid oesophagus Squamous cell lung carcinoma large_intestine prostate breast Renal cell carcinoma, papillary, 1 (rccp1) Li-Fraumeni syndrome Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
RCV000552974 rs1555525170 |
283 | R>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2073188904 RCV001265628 |
283 | R>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000633386 rs1555525209 |
283 | R>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs149633775 CA000457 VAR_006017 COSM10911 |
283 | R>C | ovary upper_aerodigestive_tract adrenal_gland central_nervous_system skin urinary_tract soft_tissue stomach haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation breast [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
COSM46035 rs149633775 RCV000703652 CA397836803 |
283 | R>G | oesophagus urinary_tract Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_006019 CA000459 RCV000131388 COSM11483 RCV000457935 RCV000507738 RCV000213060 rs371409680 RCV000148904 |
283 | R>H | lung cervix a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation oesophagus large_intestine Hereditary cancer-predisposing syndrome urinary_tract stomach haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 Astrocytoma Li-Fraumeni syndrome [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001731795 COSM10743 RCV000565161 COSM1646817 COSM99941 rs371409680 CA397836790 |
283 | R>P | lung upper_aerodigestive_tract liver pancreas oesophagus Hereditary cancer-predisposing syndrome urinary_tract central_nervous_system breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2073187136 RCV001265629 |
284 | T>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA336926 COSM44540 rs863224685 RCV000197045 RCV000569733 RCV000483278 VAR_045390 |
284 | T>I | sporadic cancers; somatic mutation lung Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
CA397836761 RCV000546011 RCV000563243 rs1204379654 |
284 | T>S | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2073186772 RCV001054016 |
285 | E>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001178315 rs121912667 |
285 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000626449 RCV000479542 COSM137087 RCV000492206 COSM3717625 rs112431538 COSM10722 VAR_006023 CA16620615 RCV000633365 COSM1649345 |
285 | E>K | upper_aerodigestive_tract biliary_tract liver adrenal_gland Hereditary cancer-predisposing syndrome urinary_tract skin central_nervous_system stomach sporadic cancers; somatic mutation lung eye ovary thyroid pancreas oesophagus large_intestine prostate soft_tissue haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000013184 COSM1744596 rs121912667 COSM131474 COSM44227 RCV000013185 CA000463 VAR_006025 COSM3958796 |
285 | E>V | sporadic cancers; somatic mutation lung Adrenocortical carcinoma, pediatric upper_aerodigestive_tract biliary_tract liver urinary_tract skin central_nervous_system soft_tissue Choroid plexus carcinoma [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000443287 RCV000437905 RCV000423414 RCV000427672 RCV000443500 RCV000444095 RCV000439537 RCV000419358 VAR_006026 RCV000430190 RCV000433092 COSM45892 CA16603015 COSM437480 RCV000424971 RCV000421888 RCV000421331 rs1057519985 RCV000431576 RCV000434375 |
286 | E>A | Carcinoma of esophagus Ovarian serous cystadenocarcinoma Small cell lung carcinoma Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of brain large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine LFS; germline mutation and in sporadic cancers; somatic mutation breast Acute myeloid leukemia Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000428935 RCV000419110 RCV000442747 RCV000439628 RCV000439864 RCV000421308 RCV000443562 CA16603012 COSM3958795 RCV000421511 RCV000426176 COSM43565 RCV000433559 VAR_006028 COSM288255 RCV000429960 RCV000427234 RCV000556558 RCV000432174 RCV000438516 COSM3958794 RCV000434654 rs1057519985 |
286 | E>G | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma central_nervous_system Hepatocellular carcinoma stomach Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma urinary_tract Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary oesophagus large_intestine breast Acute myeloid leukemia Breast neoplasm Li-Fraumeni syndrome Malignant melanoma of skin [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000437453 RCV000422231 RCV000432936 CA000464 RCV000431629 RCV000255724 RCV000443333 RCV000426778 RCV000506006 RCV000421987 RCV000419251 RCV000420427 COSM1645467 COSM10726 RCV000443492 RCV000466372 RCV000437639 RCV000431848 RCV000439250 RCV000427820 RCV000424388 COSM3522693 rs786201059 VAR_006029 COSM99924 RCV000162466 |
286 | E>K | upper_aerodigestive_tract Ovarian serous cystadenocarcinoma skin central_nervous_system Hepatocellular carcinoma Lung adenocarcinoma sporadic cancers; somatic mutation Neoplasm of brain Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus biliary_tract Small cell lung carcinoma liver Hereditary cancer-predisposing syndrome urinary_tract Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary oesophagus large_intestine Vulvar adenocarcinoma of mammary gland type breast Acute myeloid leukemia Breast neoplasm Malignant melanoma of skin Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
VAR_006030 RCV000441497 RCV000428400 RCV000435774 COSM1480057 RCV000418557 RCV000436841 RCV000428433 COSM44250 RCV000423598 RCV000442043 RCV000435596 CA16603013 RCV000422952 RCV000418192 RCV000425968 RCV000441313 RCV000431245 rs786201059 RCV000433190 |
286 | E>Q | Carcinoma of esophagus Ovarian serous cystadenocarcinoma Small cell lung carcinoma endometrium urinary_tract Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation eye Squamous cell carcinoma of the head and neck Neoplasm of brain large_intestine Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Acute myeloid leukemia Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000425922 VAR_045395 RCV000430027 COSM43936 CA16603014 RCV000443104 RCV000440264 RCV000420631 RCV000435554 RCV000436172 RCV000423140 RCV000443946 RCV000432539 RCV000430739 RCV000438282 RCV000424403 RCV000417903 RCV000443133 COSM251425 rs1057519985 |
286 | E>V | Carcinoma of esophagus Ovarian serous cystadenocarcinoma Small cell lung carcinoma liver urinary_tract skin Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma sporadic cancers; somatic mutation lung Squamous cell carcinoma of the head and neck ovary Neoplasm of brain Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Acute myeloid leukemia Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM46366 RCV000481706 rs748891343 RCV000568299 CA001463 COSM44077 |
287 | E>D | lung liver Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001187038 rs748891343 VAR_045396 |
287 | E>D | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome [UniProt, ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
rs587782006 VAR_045398 COSM44225 CA000466 RCV000130426 |
287 | E>K | sporadic cancers; somatic mutation liver Hereditary cancer-predisposing syndrome urinary_tract skin stomach breast [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000571294 rs1555525156 |
288 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555525158 RCV000564408 |
288 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM45679 COSM1167879 RCV000492120 VAR_045410 RCV000198910 CA001448 RCV000236248 rs770374782 |
290 | R>C | sporadic cancers; somatic mutation upper_aerodigestive_tract thyroid Hereditary cancer-predisposing syndrome skin haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs770374782 CA397836598 RCV000773647 |
290 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs55819519 COSM1386594 VAR_045411 CA000468 COSM44017 |
290 | R>H | upper_aerodigestive_tract large_intestine urinary_tract central_nervous_system skin stomach haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation breast [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA397836589 RCV000535005 rs55819519 |
290 | R>P | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555525140 RCV000545094 |
291 | K>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_045413 RCV000575139 COSM45050 CA397836583 rs1555525126 |
291 | K>E | sporadic cancers; somatic mutation lung biliary_tract Hereditary cancer-predisposing syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA16615698 rs1060501205 RCV000471030 |
291 | K>Q | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001058496 rs2073181967 |
292 | K>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000013177 rs121912663 RCV001525191 CA000469 VAR_015819 |
292 | K>I | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 LFS; germline mutation and in a sporadic cancer; somatic mutation [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000573281 RCV000457955 rs121912663 COSM43624 VAR_045421 CA16615993 |
292 | K>R | sporadic cancers; somatic mutation cervix Li-fraumeni syndrome 1 (lfs1) thyroid oesophagus large_intestine Hereditary cancer-predisposing syndrome stomach Li-Fraumeni syndrome [UniProt, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
COSM45417 RCV000219408 rs587780076 COSM46165 CA001422 VAR_045424 |
293 | G>R | sporadic cancers; somatic mutation ovary Li-fraumeni syndrome 1 (lfs1) thyroid Hereditary cancer-predisposing syndrome urinary_tract [UniProt, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA000470 COSM46261 RCV000462367 rs587780076 RCV000213062 RCV000115741 RCV000410614 VAR_045426 |
293 | G>W | Li-fraumeni syndrome 1 (lfs1) a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome central_nervous_system Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Ensembl, UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM3388169 RCV000433836 rs1057520607 COSM126981 COSM2744501 RCV001527467 CA16608665 COSM10856 |
294 | E>* | upper_aerodigestive_tract liver skin urinary_tract vulva lung ovary pancreas oesophagus large_intestine soft_tissue Neoplasm of ovary haematopoietic_and_lymphoid_tissue breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000633374 RCV000486525 COSM45233 CA001416 VAR_045433 rs751713111 |
295 | P>L | sporadic cancers; somatic mutation skin placenta stomach Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM44750 RCV000991138 VAR_045435 RCV000492128 rs1131691006 CA397836496 |
295 | P>S | sporadic cancers; somatic mutation lung large_intestine Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000785495 rs1567547030 |
296 | H>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000119375 RCV000774785 rs672601296 COSM43915 RCV000486480 RCV000633378 VAR_045440 CA000474 |
296 | H>Y | sporadic cancers; somatic mutation lung Sarcoma liver oesophagus Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV001262645 rs750578863 RCV001189071 |
297 | H>Q | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000214757 VAR_045444 rs876659477 CA10580914 |
297 | H>R | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2073177507 RCV001880046 RCV001262727 |
298 | E>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3723940 RCV000559898 COSM1646820 CA000484 RCV001257516 RCV000216964 COSM121080 RCV000785528 RCV000079204 rs201744589 COSM10710 |
298 | E>* | upper_aerodigestive_tract liver Hereditary cancer-predisposing syndrome Rhabdomyosarcoma skin urinary_tract lung salivary_gland ovary Li-fraumeni syndrome 1 (lfs1) oesophagus pancreas large_intestine Neoplasm of ovary breast Li-Fraumeni syndrome [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2073176960 RCV001190826 |
298 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660726 RCV001255679 RCV000219373 |
301 | P>missing | Lip and oral cavity carcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM45405 VAR_006033 rs1555525067 CA397836344 RCV001858158 RCV000574619 |
301 | P>L | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome urinary_tract Li-Fraumeni syndrome [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA16615695 VAR_006034 rs1060501202 RCV000468864 COSM43988 |
302 | G>E | sporadic cancers; somatic mutation oesophagus large_intestine Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs863224686 CA336894 VAR_045462 RCV000197011 |
302 | G>R | a sporadic cancer; somatic mutation Li-Fraumeni syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs786202055 RCV000164675 |
303 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000785534 rs1567546889 |
303 | S>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000760105 CA000491 RCV000549010 RCV000131400 rs587782391 |
303 | S>G | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000218916 rs876658714 VAR_045465 COSM43986 CA10580912 RCV000700080 |
303 | S>N | sporadic cancers; somatic mutation large_intestine Hereditary cancer-predisposing syndrome urinary_tract breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs2073173418 RCV001239449 |
304 | T>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA000493 rs587782654 COSM46207 VAR_045467 RCV000132069 |
304 | T>A | sporadic cancers; somatic mutation upper_aerodigestive_tract Hereditary cancer-predisposing syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000776787 rs1567546818 |
305 | K>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM99951 RCV001018912 CA397836281 COSM1646821 rs1597360340 COSM43773 |
305 | K>* | lung ovary upper_aerodigestive_tract liver oesophagus large_intestine Hereditary cancer-predisposing syndrome urinary_tract [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001018826 rs1597360326 |
306 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000561902 RCV000664300 CA287486566 rs1048095040 RCV000527123 VAR_006036 |
306 | R>Q | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome Familial cancer of breast Li-Fraumeni syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000568377 rs1457582183 CA397836168 |
307 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001044133 rs2073171970 |
308 | L>APREH* | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_006038 COSM1679488 CA397836140 COSM11677 RCV000537437 COSM1679489 rs1555525012 RCV000574214 |
309 | P>S | upper_aerodigestive_tract large_intestine Hereditary cancer-predisposing syndrome LFS; germline mutation and in sporadic cancers; somatic mutation Li-Fraumeni syndrome [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA397836109 rs876660829 RCV000492463 |
310 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000221944 CA10580910 rs876660829 |
310 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1567546373 RCV000785552 |
311 | N>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555525007 VAR_045483 RCV000633334 COSM45618 CA397836105 |
311 | N>H | sporadic cancers; somatic mutation upper_aerodigestive_tract Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA16615690 rs56184981 RCV000473016 VAR_045485 |
311 | N>S | a sporadic cancer; somatic mutation Li-Fraumeni syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001019173 CA349248 RCV000205077 rs56184981 VAR_045486 |
311 | N>T | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000989705 RCV000129462 CA000505 rs145151284 RCV001260345 COSM45636 RCV001770102 VAR_045488 RCV000204899 RCV000213063 COSM44967 RCV000411116 |
312 | T>S | sporadic cancers; somatic mutation Squamous cell carcinoma of the head and neck upper_aerodigestive_tract ovary Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Familial cancer of breast haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [UniProt, ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000785505 rs1567546226 |
313 | S>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000456310 rs751440465 COSM45914 CA001234 VAR_045493 RCV000570325 |
314 | S>F | a sporadic cancer; somatic mutation liver Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001190099 rs2073157445 |
315 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000164586 RCV000793553 RCV001255575 CA000506 rs762620193 |
315 | S>T | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000633395 rs1555524979 VAR_045497 COSM1167892 CA397835981 COSM45544 |
316 | P>L | upper_aerodigestive_tract a sporadic cancer; somatic mutation skin Li-Fraumeni syndrome [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
VAR_045498 rs772773208 CA001212 RCV000215470 RCV000467467 RCV000235672 |
316 | P>T | a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1567546196 RCV000699992 |
317 | Q>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000561039 rs1555524976 |
317 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1709728 COSM3388166 CA397835973 RCV000520579 COSM10786 COSM165085 RCV000583201 RCV000615397 rs764735889 |
317 | Q>* | upper_aerodigestive_tract liver Hereditary cancer-predisposing syndrome skin central_nervous_system urinary_tract lung ovary thyroid pancreas oesophagus large_intestine haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16615689 RCV000477030 rs1060501199 VAR_045499 |
317 | Q>H | a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation Li-Fraumeni syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000223439 RCV000541248 COSM43769 CA001204 RCV000485421 rs764735889 VAR_045500 |
317 | Q>K | sporadic cancers; somatic mutation large_intestine Hereditary cancer-predisposing syndrome endometrium Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA397835971 COSM1386578 rs1159579789 RCV000704730 COSM46278 VAR_045502 |
317 | Q>R | sporadic cancers; somatic mutation ovary large_intestine bone Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
rs1597359403 RCV001019436 |
318 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_045503 RCV000584424 rs1555524975 CA397835952 |
318 | P>L | sporadic cancers; somatic mutation Hereditary cancer-predisposing syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001044813 rs2073154382 |
321 | K>* | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567546114 RCV000697887 |
321 | K>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000195973 rs863224687 RCV000573146 CA336073 |
322 | P>S | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10580909 rs863224687 RCV000217039 |
322 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1567545918 RCV000772929 |
323 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM44674 CA397835853 RCV001019627 rs1597359353 |
323 | L>P | Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1064794810 RCV000573045 RCV000478385 CA16620612 RCV000555965 |
324 | D>H | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000776836 rs1064794810 CA397835843 |
324 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM307331 RCV000195434 CA335679 rs863224500 COSM390782 |
325 | G>* | lung urinary_tract Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA397835817 RCV000566077 COSM44060 rs121912659 |
325 | G>E | Hereditary cancer-predisposing syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs863224500 CA397835820 RCV000568856 |
325 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000013166 RCV000232570 VAR_006039 CA000516 RCV000131411 COSM46030 RCV000013165 rs121912659 |
325 | G>V | Non-Hodgkin lymphoma Familial colorectal cancer Hereditary cancer-predisposing syndrome urinary_tract LFS; germline mutation Li-Fraumeni syndrome [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
COSM2744454 COSM2744453 RCV000633385 COSM11570 rs876659384 COSM3723941 CA10580908 RCV000218971 |
326 | E>* | upper_aerodigestive_tract oesophagus large_intestine Hereditary cancer-predisposing syndrome skin Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000785540 rs1597359215 |
327 | Y>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001019729 rs1597359235 |
327 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886041285 RCV000286554 RCV001788184 |
329 | T>missing | Li-Fraumeni syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555524949 RCV000540169 |
331 | Q>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001183200 rs1597359130 |
331 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000785530 rs1567542299 |
332 | I>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397832931 rs1555524470 RCV000554410 |
332 | I>M | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000197833 CA000530 RCV000485066 rs769934890 RCV000164055 |
333 | R>C | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA000533 RCV000662455 rs573154688 RCV000213064 RCV000227465 RCV000131296 |
333 | R>H | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000588363 RCV000468644 RCV000663214 RCV000161073 CA000007 rs730882028 |
334 | G>R | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000165615 rs730882028 CA000006 |
334 | G>R | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
COSM1386569 COSM48816 rs730882028 CA397832878 VAR_045533 RCV000492343 |
334 | G>W | lung Li-fraumeni syndrome 1 (lfs1) a sporadic cancer; somatic mutation large_intestine Hereditary cancer-predisposing syndrome [Cosmic, Ensembl, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP |
|
CA000009 RCV000213066 RCV000129547 rs375444154 RCV000538993 |
335 | R>C | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV000563037 VAR_045535 rs771939956 CA000869 |
335 | R>H | a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000492353 rs1131691040 |
337 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000475086 VAR_006041 CA000010 COSM11071 RCV000131726 rs587782529 COSM117591 |
337 | R>C | peritoneum liver Hereditary cancer-predisposing syndrome endometrium central_nervous_system lung kidney ovary Li-fraumeni syndrome 1 (lfs1) oesophagus pancreas large_intestine prostate haematopoietic_and_lymphoid_tissue LFS; germline mutation and in sporadic cancers; somatic mutation breast Li-Fraumeni syndrome [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
rs587782529 COSM235697 RCV000226515 CA10583674 |
337 | R>G | Li-fraumeni syndrome 1 (lfs1) large_intestine Li-Fraumeni syndrome [Ensembl, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA000013 COSM43882 rs121912664 COSM131485 VAR_035016 |
337 | R>H | Li-fraumeni syndrome 1 (lfs1) liver pancreas large_intestine LFS; germline mutation and in sporadic cancers; somatic mutation [Ensembl, Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_045537 COSM220135 CA000015 rs121912664 RCV001762321 RCV000785297 RCV000132259 COSM11411 |
337 | R>L | sporadic cancers; somatic mutation lung Li-fraumeni syndrome 1 (lfs1) liver large_intestine Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary breast [UniProt, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000154527 rs121912664 CA000014 VAR_045538 COSM378686 COSM378685 |
337 | R>P | sporadic cancers; somatic mutation lung Li-fraumeni syndrome 1 (lfs1) Li-Fraumeni syndrome [UniProt, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000772899 rs1064796401 CA397832713 |
338 | F>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_045540 rs150293825 COSM1386565 RCV000576115 COSM1386566 CA000848 |
338 | F>L | Li-fraumeni syndrome 1 (lfs1) a sporadic cancer; somatic mutation large_intestine Hereditary cancer-predisposing syndrome [Ensembl, UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1064796401 RCV001865477 CA16620610 RCV000478445 |
338 | F>S | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000785266 rs1567542146 |
339 | E>* | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM214290 COSM11286 RCV000689964 RCV000505616 rs17882252 CA397832685 |
339 | E>* | upper_aerodigestive_tract liver oesophagus central_nervous_system breast Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_045541 CA000018 COSM46250 rs17882252 RCV000697643 RCV000213068 RCV000130594 |
339 | E>Q | a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome breast Li-Fraumeni syndrome [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000492284 rs1131691005 |
340 | M>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009690 rs1597349257 |
340 | M>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009698 CA397832663 rs1597349348 RCV001860610 |
340 | M>K | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001247641 rs2072915470 |
341 | F>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691022 RCV000785302 RCV001036544 RCV000492610 |
342 | R>missing | Hereditary cancer-predisposing syndrome Neoplasm of ovary Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000785461 rs1567542043 |
342 | R>* | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
CA000019 COSM11073 RCV000213069 COSM99721 rs730882029 RCV000549233 RCV000161074 |
342 | R>* | peritoneum upper_aerodigestive_tract NS liver Hereditary cancer-predisposing syndrome central_nervous_system skin endometrium urinary_tract stomach lung kidney ovary oesophagus pancreas large_intestine haematopoietic_and_lymphoid_tissue breast Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA915949512 RCV001017048 rs1597349305 |
342 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs375338359 COSM45276 COSM437468 RCV000198319 RCV000213216 CA337802 VAR_045544 |
342 | R>P | sporadic cancers; somatic mutation ovary Li-fraumeni syndrome 1 (lfs1) liver Hereditary cancer-predisposing syndrome endometrium breast Li-Fraumeni syndrome [UniProt, Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
COSM44070 VAR_045546 RCV000013174 rs121912662 RCV000991141 CA000021 |
344 | L>P | upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) pancreas Li-Fraumeni syndrome 1 LFS; germline mutation and in a sporadic cancer; somatic mutation Li-Fraumeni syndrome [Cosmic, Ensembl, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000785295 rs1567542031 |
346 | E>missing | Neoplasm of ovary [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000562934 CA397832451 RCV001865731 rs1555524406 |
346 | E>D | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA000022 RCV000036529 RCV000255021 RCV000492626 rs397516434 RCV000468537 |
347 | A>D | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000567572 RCV000484420 CA16620609 rs397516434 |
347 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000699234 rs1567541951 CA891844038 |
348 | L>* | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000473178 CA16615934 rs1060501193 |
348 | L>V | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA397832377 COSM140784 COSM10770 RCV000785303 rs1567541975 RCV001269697 |
349 | E>* | lung ovary liver oesophagus large_intestine endometrium skin Neoplasm of ovary breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1131691008 RCV000492513 |
350 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000562474 CA397832343 rs768046010 |
350 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000131779 COSM107992 COSM107991 rs141402957 CA000023 |
351 | K>E | Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000552899 rs1555524396 CA397832291 |
351 | K>R | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000574074 CA397832246 rs1555524394 |
352 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM562344 RCV000531178 CA397832178 COSM562345 rs755394212 |
354 | Q>* | lung Li-fraumeni syndrome 1 (lfs1) Li-Fraumeni syndrome [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000626710 RCV000663226 COSM46129 RCV000469791 CA000816 rs755394212 VAR_045557 RCV000222255 |
354 | Q>K | upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome Colonic neoplasm Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Cosmic, Ensembl, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
rs752142489 VAR_047214 CA000810 RCV001856096 RCV000774782 COSM45536 |
354 | Q>R | sporadic cancers; somatic mutation kidney Hereditary cancer-predisposing syndrome breast Li-Fraumeni syndrome [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
CA397832139 RCV000633335 rs1555524382 |
355 | A>V | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000471717 rs766786605 RCV000213405 RCV000481680 CA000803 |
356 | G>R | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000989698 CA397832082 rs1567541856 RCV000709400 |
357 | K>E | Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA000027 rs587782237 VAR_045561 RCV000130938 |
358 | E>K | a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000463320 RCV000219841 rs773553186 COSM44081 CA000790 RCV000249541 |
358 | E>V | adrenal_gland Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000130776 CA000029 RCV000991145 RCV002225434 RCV000663262 rs35993958 RCV000586942 RCV000254695 VAR_045562 |
360 | G>A | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Hereditary breast ovarian cancer syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000213880 CA10580905 RCV000541338 rs35993958 |
360 | G>E | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs786203298 CA000028 RCV000166545 |
360 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000569528 rs786203298 CA397831928 |
360 | G>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001753512 rs587781663 COSM1709727 CA000032 COSM1709726 RCV000581885 RCV000129812 |
361 | G>E | Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV000571168 rs1555524361 RCV000633398 CA397831894 |
361 | G>R | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000714962 rs1555524370 RCV000677306 |
362 | S>missing | Diamond-Blackfan anemia Bone marrow failure syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000714961 RCV000677307 rs1555524354 |
362 | S>missing | Diamond-Blackfan anemia Bone marrow failure syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000552096 CA397831862 rs1287887419 |
362 | S>C | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs768803947 CA000768 RCV000572520 |
362 | S>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs768803947 CA397831856 RCV000530397 |
362 | S>N | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs745751553 RCV000168038 RCV000483595 CA000033 |
363 | R>G | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000223158 VAR_045564 CA10580904 rs876660285 RCV001853625 RCV000419155 |
363 | R>K | a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA397831830 rs1567541711 RCV000689466 |
364 | A>V | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2072905459 RCV001190530 |
366 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397831755 rs17881470 RCV000633357 |
366 | S>P | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000218678 CA10580903 rs876659459 RCV001853567 |
367 | S>G | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001875840 rs786204227 RCV001177226 |
368 | H>N | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1289241865 CA397830872 RCV000575539 |
368 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA000039 RCV000168367 rs786204227 RCV000222357 |
368 | H>Y | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658876 CA10580901 RCV000217059 |
372 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567540504 RCV000700219 RCV000771476 COSM3727817 CA397830723 |
373 | K>R | Hereditary cancer-predisposing syndrome central_nervous_system Li-Fraumeni syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs878854063 RCV000233345 |
374 | G>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000217404 CA000677 RCV000235558 RCV000529612 rs587781858 |
374 | G>R | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA000040 rs587781858 RCV000130166 |
374 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM307348 rs1555524156 COSM1303396 RCV000563669 RCV000702325 CA397830670 |
375 | Q>* | Hereditary cancer-predisposing syndrome urinary_tract Li-Fraumeni syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA397830633 RCV000584249 rs1555524151 |
376 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA397830631 RCV000689635 rs774269719 |
377 | T>A | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001860863 CA397830619 RCV001017399 rs1597345549 |
377 | T>I | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1658764 CA000673 rs774269719 RCV001253109 |
377 | T>P | urinary_tract haematopoietic_and_lymphoid_tissue Li-Fraumeni syndrome 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000562179 CA397830603 rs1555524130 RCV001858143 |
378 | S>C | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001323760 rs2072836882 |
379 | R>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000166233 CA000043 rs749061599 RCV000559034 |
379 | R>C | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000581851 rs863224682 RCV000235637 VAR_045572 RCV000696782 RCV000410457 COSM44189 CA10584584 |
379 | R>H | sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome central_nervous_system Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [UniProt, Ensembl, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000590314 rs863224682 CA338506 RCV000199273 RCV000219990 RCV001527092 |
379 | R>L | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000166408 RCV000236607 RCV000412389 rs749061599 CA000042 |
379 | R>S | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000492580 rs1131691012 |
380 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001253797 rs2072835371 |
381 | K>E | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000759368 RCV001017468 COSM307349 CA287485469 rs150842067 |
383 | L>F | Hereditary cancer-predisposing syndrome urinary_tract [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1060501196 CA397830335 RCV000548129 |
384 | M>R | Li-fraumeni syndrome 1 (lfs1) Li-Fraumeni syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000662831 RCV000566404 CA16615930 RCV000462881 rs1060501196 |
384 | M>T | Li-fraumeni syndrome 1 (lfs1) Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000195684 rs730882009 RCV000587685 RCV000161040 CA000046 RCV000213071 |
384 | M>V | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA397830329 rs1555524094 RCV000561658 VAR_045573 |
385 | F>L | a sporadic cancer; somatic mutation Hereditary cancer-predisposing syndrome [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA397830255 RCV001010036 rs1597345314 |
386 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA287485465 rs927888647 RCV000569933 |
387 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs587781736 RCV000226900 RCV000236435 RCV000129934 CA000047 |
388 | E>A | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000558251 CA397830162 rs587783064 |
389 | G>R | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587783064 VAR_045574 RCV000144667 CA000048 |
389 | G>W | a sporadic cancer; somatic mutation Li-Fraumeni syndrome 1 [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001010112 rs1597345232 CA397830121 |
390 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567540133 RCV000773751 CA397830032 |
391 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000536567 rs1555524083 |
393 | D>missing | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001862761 RCV001010148 rs1192921623 CA397829956 |
393 | D>H | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA397829958 rs1192921623 RCV000584379 RCV001853944 |
393 | D>N | Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA397829908 RCV000551312 rs1555524074 |
394 | D>C | Li-Fraumeni syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA397829928 rs1555524079 RCV000573419 |
394 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131691024 RCV000492658 |
394 | D>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1356004172 CA397849458 |
4 | P>T | No |
ClinGen TOPMed |
|
|
rs1357147493 CA397849381 |
6 | S>P | No |
ClinGen gnomAD |
|
|
CA397849313 rs1597376589 |
8 | P>T | No |
ClinGen Ensembl |
|
|
COSM510151 rs1418778734 CA397849194 |
10 | V>G | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM3820734 COSM3820738 VAR_044547 COSM3820737 COSM3820736 COSM3820735 rs201382018 CA003910 |
11 | E>K | sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) breast [UniProt, Ensembl, Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA397849154 rs1482497533 |
12 | P>R | No |
ClinGen gnomAD |
|
|
CA397848970 rs1597376489 |
16 | Q>H | No |
ClinGen Ensembl |
|
|
CA397848775 rs1597376439 |
20 | S>L | No |
ClinGen Ensembl |
|
|
rs1800369 CA003831 |
21 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555526933 CA397848431 |
27 | P>R | No |
ClinGen Ensembl |
|
|
rs1011445550 CA287489276 |
29 | N>K | No |
ClinGen TOPMed |
|
|
RCV000493979 rs1131691618 |
31 | V>missing | No |
ClinVar dbSNP |
|
|
CA397848069 rs1555526832 |
33 | S>F | No |
ClinGen Ensembl |
|
|
CA397848043 rs1322947350 COSM43672 |
34 | P>L | upper_aerodigestive_tract oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA000026 rs730881993 |
36 | P>S | No |
ClinGen Ensembl |
|
|
RCV000582613 rs1555526793 |
39 | A>missing | No |
ClinVar dbSNP |
|
|
rs1597375159 CA397847078 |
40 | M>V | No |
ClinGen Ensembl |
|
|
rs1555526784 CA658656662 |
42 | D>G | No |
ClinGen Ensembl |
|
|
rs756847009 CA003226 |
42 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1555526777 RCV000521967 CA397846898 |
43 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA003217 rs754332870 |
43 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA397846903 rs1597375116 |
43 | L>M | No |
ClinGen Ensembl |
|
|
COSM43664 COSM1386936 RCV000235508 rs879254066 CA10584594 COSM1386935 |
45 | L>P | oesophagus large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA397846833 rs1597375092 |
45 | L>V | No |
ClinGen Ensembl |
|
|
CA397846789 rs1597375058 |
46 | S>Y | No |
ClinGen Ensembl |
|
|
CA397846755 rs1597375038 |
47 | P>R | No |
ClinGen Ensembl |
|
|
VAR_014632 CA000053 rs1800371 |
47 | P>S | Li-fraumeni syndrome 1 (lfs1) [Ensembl] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_044571 rs587780728 CA000057 COSM11935 |
49 | D>H | sporadic cancers; somatic mutation lung Li-fraumeni syndrome 1 (lfs1) soft_tissue haematopoietic_and_lymphoid_tissue [UniProt, Cosmic, Ensembl] | No |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
CA16620640 COSM3388236 COSM3388235 COSM3712586 COSM44488 COSM399760 COSM3712585 COSM1324762 RCV000480240 rs1064794618 COSM399761 COSM44760 COSM1324763 |
53 | W>* | lung ovary upper_aerodigestive_tract pancreas oesophagus central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA397846305 rs1442824382 |
57 | D>G | No |
ClinGen gnomAD |
|
|
VAR_044582 rs1237722021 CA397846253 COSM45578 |
59 | G>C | sporadic cancers; somatic mutation upper_aerodigestive_tract urinary_tract [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
rs1597374828 CA397846235 COSM46106 |
59 | G>D | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1597374820 COSM44136 CA397846216 |
60 | P>L | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA397846186 rs1597374797 |
61 | D>E | No |
ClinGen Ensembl |
|
|
rs1460793472 COSM46180 VAR_044586 CA397846192 |
61 | D>G | sporadic cancers; somatic mutation urinary_tract [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD |
|
rs1567556594 CA397845851 |
70 | A>G | No |
ClinGen Ensembl |
|
|
rs1042522 RCV000152112 |
72 | P>= | No |
ClinVar dbSNP |
|
|
rs1042522 CA397845758 |
72 | P>L | Li-fraumeni syndrome 1 (lfs1) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA000072 COSM250061 VAR_005856 rs1042522 |
72 | P>R | upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) liver urinary_tract central_nervous_system [Cosmic, Ensembl] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1235781676 CA397845639 |
76 | A>E | No |
ClinGen gnomAD |
|
|
rs1597374438 CA397845564 |
79 | A>G | No |
ClinGen Ensembl |
|
|
RCV000657303 rs1555526635 |
83 | A>missing | No |
ClinVar dbSNP |
|
|
rs201717599 VAR_044624 CA000083 |
83 | A>V | sporadic cancers; somatic mutation [UniProt] | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs587782148 CA000088 |
86 | A>T | No |
ClinGen Ensembl |
|
|
COSM44493 rs1597374264 CA397845372 |
86 | A>V | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA397845361 rs1597374238 |
87 | P>A | No |
ClinGen Ensembl |
|
|
COSM44677 rs730881994 VAR_044632 CA000089 |
89 | P>L | sporadic cancers; somatic mutation skin [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
rs730881995 CA000094 RCV000161020 |
97 | V>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs730882023 COSM46176 CA397844965 VAR_044650 |
97 | V>I | urinary_tract familial cancer not matching LFS; germline mutation and in a sporadic cancer; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
rs1373046761 CA397844835 |
101 | K>E | No |
ClinGen TOPMed |
|
|
rs1373046761 CA397844828 |
101 | K>Q | No |
ClinGen TOPMed |
|
|
COSM44453 COSM45307 COSM225047 CA397844777 COSM707858 COSM1645399 rs1597373901 COSM1646882 COSM225046 COSM707859 |
103 | Y>* | lung large_intestine skin endometrium breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1567555907 RCV000727568 |
105 | G>missing | No |
ClinVar dbSNP |
|
|
RCV000582529 COSM3717683 CA397844688 VAR_044667 COSM1610878 COSM2745028 COSM1610879 COSM45944 rs1555526581 |
106 | S>R | upper_aerodigestive_tract liver oesophagus pancreas large_intestine a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM220765 rs368771578 CA397844665 COSM220766 COSM46103 |
107 | Y>D | Li-fraumeni syndrome 1 (lfs1) large_intestine urinary_tract prostate haematopoietic_and_lymphoid_tissue breast [Ensembl, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs587782461 CA397844647 COSM1386869 COSM1386867 COSM1386868 |
108 | G>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA16608667 RCV000434126 rs1057523496 COSM48817 |
109 | F>V | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA000119 COSM247949 VAR_005860 rs587781371 COSM43682 COSM247948 |
110 | R>C | sporadic cancers; somatic mutation liver oesophagus large_intestine skin prostate small_intestine [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
VAR_044677 COSM46115 rs11540654 CA000123 |
110 | R>H | sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) urinary_tract breast [UniProt, Ensembl, Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM11250 COSM2745016 COSM2745018 rs1597373700 COSM2745017 COSM3388234 CA915949545 |
110 | R>P | lung upper_aerodigestive_tract pancreas oesophagus large_intestine soft_tissue breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA397844525 rs1390502714 |
112 | G>A | No |
ClinGen gnomAD |
|
|
COSM287503 COSM287502 COSM4139893 COSM2745003 CA397844502 rs1567555667 COSM10717 |
113 | F>C | lung ovary large_intestine breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM1386852 CA397844467 COSM1386850 rs1567555626 COSM1386851 |
114 | L>F | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
RCV000657463 rs1555526524 |
116 | S>missing | No |
ClinVar dbSNP |
|
|
rs989692988 CA287488988 |
116 | S>A | No |
ClinGen gnomAD |
|
|
CA397844402 rs755238756 |
117 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA002816 COSM44115 rs755238756 VAR_044692 |
117 | G>E | sporadic cancers; somatic mutation urinary_tract [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
RCV001174845 rs2073450819 |
120 | K>M | No |
ClinVar dbSNP |
|
|
RCV000478911 VAR_044701 rs121912658 COSM46024 CA16620634 |
120 | K>Q | a sporadic cancer; somatic mutation breast [UniProt, Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000115720 rs587780067 |
122 | V>missing | No |
ClinVar dbSNP |
|
|
rs1597373467 RCV001008166 |
123 | T>missing | No |
ClinVar dbSNP |
|
|
rs730881999 COSM216413 COSM1637542 CA000148 COSM3378368 VAR_005867 COSM44226 COSM216412 |
127 | S>F | upper_aerodigestive_tract biliary_tract skin central_nervous_system urinary_tract bone stomach small_intestine sporadic cancers; somatic mutation lung ovary thyroid pancreas oesophagus large_intestine [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
COSM1168839 COSM1168840 COSM3388227 COSM53285 COSM3388226 rs1597371694 CA397843929 |
127 | S>T | liver pancreas central_nervous_system breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA397843908 COSM3403297 rs730881999 COSM3403296 COSM43970 COSM3403294 COSM3403295 |
127 | S>Y | lung upper_aerodigestive_tract ovary biliary_tract liver pancreas central_nervous_system urinary_tract haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM3403291 COSM3726808 rs866775781 COSM10991 COSM1750373 COSM2157115 COSM213187 COSM213186 CA287488695 COSM301220 COSM43963 COSM301221 |
132 | K>N | liver adrenal_gland central_nervous_system urinary_tract skin lung kidney ovary oesophagus pancreas large_intestine penis haematopoietic_and_lymphoid_tissue breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
RCV000582839 rs1555526286 |
134 | F>missing | No |
ClinVar dbSNP |
|
|
rs1597371266 RCV001001038 |
139 | K>missing | No |
ClinVar dbSNP |
|
|
rs1212996409 COSM44449 VAR_044766 COSM307286 COSM307285 CA397842679 |
139 | K>E | sporadic cancers; somatic mutation upper_aerodigestive_tract liver urinary_tract [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP |
|
CA397842631 rs1597371253 |
140 | T>A | No |
ClinGen Ensembl |
|
|
rs2073392778 RCV001290626 |
140 | T>K | No |
ClinVar dbSNP |
|
|
rs779196500 COSM43583 VAR_044780 CA002608 |
142 | P>L | sporadic cancers; somatic mutation upper_aerodigestive_tract large_intestine skin prostate haematopoietic_and_lymphoid_tissue vulva [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
CA000176 COSM220753 COSM1664639 VAR_044787 COSM3691868 COSM43878 rs587782620 COSM220754 |
143 | V>M | cervix upper_aerodigestive_tract central_nervous_system urinary_tract sporadic cancers; somatic mutation salivary_gland lung kidney ovary Li-fraumeni syndrome 1 (lfs1) oesophagus large_intestine prostate haematopoietic_and_lymphoid_tissue [Cosmic, UniProt, Ensembl] | No |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
COSM11245 rs757274881 CA002599 COSM318146 COSM3820722 COSM2744941 COSM318145 |
144 | Q>* | upper_aerodigestive_tract adrenal_gland endometrium urinary_tract stomach lung ovary oesophagus large_intestine prostate soft_tissue haematopoietic_and_lymphoid_tissue breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM1158445 COSM131518 COSM1158446 COSM1649371 COSM43609 COSM10727 COSM131517 COSM1640860 rs1206165503 COSM3378359 CA397842378 |
146 | W>* | peritoneum upper_aerodigestive_tract biliary_tract NS liver adrenal_gland endometrium central_nervous_system urinary_tract skin stomach lung ovary pancreas oesophagus large_intestine soft_tissue prostate haematopoietic_and_lymphoid_tissue breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA397842357 COSM45748 rs1131691026 |
146 | W>C | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM1644285 rs1453167097 COSM1644286 CA397842313 VAR_005892 COSM44309 COSM1644284 |
147 | V>G | sporadic cancers; somatic mutation biliary_tract urinary_tract stomach haematopoietic_and_lymphoid_tissue breast [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP |
|
CA397842254 rs1555526214 |
149 | S>C | No |
ClinGen Ensembl |
|
|
CA397842190 COSM171823 rs587782705 COSM45505 COSM171822 |
152 | P>R | large_intestine skin stomach haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA397842165 COSM44367 rs1597370799 |
153 | P>L | lung oesophagus large_intestine endometrium haematopoietic_and_lymphoid_tissue breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
VAR_005900 COSM1649372 COSM342243 COSM342244 CA397842114 rs762846821 COSM6815 |
154 | G>V | lung upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) thyroid a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation liver adrenal_gland oesophagus large_intestine bone stomach [Cosmic, Ensembl, UniProt] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1555526137 RCV000583594 |
157 | V>missing | No |
ClinVar dbSNP |
|
|
rs730882022 RCV000161063 CA000230 VAR_045799 |
159 | A>F | a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions [UniProt] | No |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM43836 CA000233 VAR_044853 COSM1649380 rs730882000 RCV000161026 COSM562626 COSM562625 |
159 | A>P | sporadic cancers; somatic mutation lung upper_aerodigestive_tract thyroid liver large_intestine haematopoietic_and_lymphoid_tissue breast [UniProt, Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
CA397842022 rs730882000 COSM43626 VAR_044855 |
159 | A>T | sporadic cancers; somatic mutation lung oesophagus large_intestine soft_tissue [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
CA287488597 rs377274728 COSM44842 |
160 | M>L | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs587780069 VAR_005910 RCV000115724 COSM251390 COSM43898 COSM251389 CA000237 |
162 | I>S | sporadic cancers; somatic mutation liver oesophagus haematopoietic_and_lymphoid_tissue [UniProt, Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA397841918 COSM3701302 COSM43820 COSM3701301 COSM3701300 COSM3701299 rs1567553246 RCV000759375 COSM45411 |
163 | Y>* | upper_aerodigestive_tract liver pancreas large_intestine urinary_tract stomach [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA397841804 COSM43709 rs1319163924 |
167 | Q>R | large_intestine haematopoietic_and_lymphoid_tissue breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM10996 COSM357724 COSM2744871 rs587781845 CA397841623 COSM357723 COSM3421937 |
171 | E>* | lung upper_aerodigestive_tract oesophagus large_intestine urinary_tract haematopoietic_and_lymphoid_tissue breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
RCV000657325 rs1555526064 |
173 | V>missing | No |
ClinVar dbSNP |
|
|
COSM1630434 COSM1630435 CA16620629 rs1064796681 VAR_005927 RCV000478775 COSM44524 |
174 | R>K | sporadic cancers; somatic mutation lung liver central_nervous_system breast [UniProt, Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM10650 COSM1559483 COSM1559484 rs147002414 CA287488531 VAR_044924 |
177 | P>S | sporadic cancers; somatic mutation upper_aerodigestive_tract biliary_tract central_nervous_system urinary_tract skin prostate haematopoietic_and_lymphoid_tissue [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
RCV000485632 CA16620628 rs1064795203 COSM44068 VAR_044928 |
178 | H>N | sporadic cancers; somatic mutation upper_aerodigestive_tract skin [UniProt, Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM2148896 COSM1559479 rs1555526001 COSM46163 COSM11998 COSM1559480 CA397841364 |
178 | H>Q | upper_aerodigestive_tract large_intestine central_nervous_system haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM99658 CA397841255 rs397514495 COSM45046 COSM99661 |
181 | R>P | lung upper_aerodigestive_tract ovary Li-fraumeni syndrome 1 (lfs1) liver large_intestine Glioma susceptibility 1 (glm1) urinary_tract breast [Cosmic, Ensembl] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
RCV000485383 rs1064796257 CA16620627 |
182 | C>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM562634 COSM1649386 COSM562633 CA397841210 COSM10706 COSM3773308 COSM11717 rs1555525970 |
183 | S>* | lung ovary upper_aerodigestive_tract thyroid NS pancreas oesophagus large_intestine urinary_tract central_nervous_system haematopoietic_and_lymphoid_tissue breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA287488513 COSM44029 VAR_047169 rs72661117 |
184 | D>N | sporadic cancers; somatic mutation cervix upper_aerodigestive_tract oesophagus large_intestine urinary_tract soft_tissue prostate haematopoietic_and_lymphoid_tissue breast [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
rs1064795841 COSM44023 CA16620626 RCV000483175 |
187 | G>D | lung large_intestine urinary_tract stomach haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA397841073 COSM2744804 COSM2744803 COSM2744802 COSM3958827 COSM2744801 rs776167460 |
187 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
COSM437537 COSM1636742 VAR_005942 COSM44026 COSM437538 CA002385 rs776167460 |
187 | G>S | sporadic cancers; somatic mutation lung liver pancreas oesophagus large_intestine skin urinary_tract bone haematopoietic_and_lymphoid_tissue breast [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt ExAC dbSNP |
|
VAR_044972 COSM1386777 COSM1386776 COSM1386778 CA397840899 rs1199893366 |
188 | L>P | a sporadic cancer; somatic mutation large_intestine [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP |
|
COSM1736075 COSM44682 rs876660254 COSM1736077 CA397840839 COSM1736076 |
190 | P>S | upper_aerodigestive_tract ovary large_intestine central_nervous_system skin breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM45075 CA397840794 VAR_044984 rs587778718 |
191 | P>H | sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) haematopoietic_and_lymphoid_tissue [UniProt, Ensembl, Cosmic] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
CA397840779 VAR_044985 COSM44351 rs587778718 |
191 | P>L | sporadic cancers; somatic mutation upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) [UniProt, Cosmic, Ensembl] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM117946 COSM3370929 CA16615700 rs866380588 COSM10733 COSM1649390 COSM117949 |
192 | Q>* | cervix upper_aerodigestive_tract biliary_tract NS liver urinary_tract endometrium skin stomach lung eye kidney ovary pancreas oesophagus large_intestine haematopoietic_and_lymphoid_tissue breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs730882002 RCV000161029 COSM44849 VAR_005946 CA000273 |
192 | Q>R | sporadic cancers; somatic mutation upper_aerodigestive_tract haematopoietic_and_lymphoid_tissue breast [UniProt, Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1567551903 CA397840539 COSM44424 |
197 | V>E | upper_aerodigestive_tract liver skin urinary_tract central_nervous_system stomach haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM43905 CA397840534 COSM437521 COSM437522 rs1567551903 |
197 | V>G | upper_aerodigestive_tract oesophagus large_intestine endometrium soft_tissue haematopoietic_and_lymphoid_tissue vulva breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM3675525 RCV000522967 COSM255788 COSM44140 COSM255787 VAR_045021 CA397840476 COSM3675524 rs1555525857 |
199 | G>V | sporadic cancers; somatic mutation ovary biliary_tract large_intestine central_nervous_system prostate stomach breast [UniProt, Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000679849 rs1567551704 |
199 | G>missing | No |
ClinVar dbSNP |
|
|
rs730882024 COSM45489 COSM43777 CA000287 VAR_045027 |
201 | L>F | sporadic cancers; somatic mutation lung thymus upper_aerodigestive_tract ovary large_intestine [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP |
|
CA000289 rs587778719 VAR_045032 COSM43594 |
202 | R>H | sporadic cancers; somatic mutation biliary_tract large_intestine stomach breast [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP |
|
COSM44411 rs1597368504 CA397840380 |
203 | V>E | upper_aerodigestive_tract pancreas large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1260903787 VAR_045042 COSM45253 CA397840349 |
204 | E>G | sporadic cancers; somatic mutation soft_tissue haematopoietic_and_lymphoid_tissue [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD |
|
COSM179818 VAR_045054 CA287488336 COSM179817 COSM179819 rs923100890 |
207 | D>N | sporadic cancers; somatic mutation large_intestine [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
CA397840195 VAR_045061 rs1464727668 COSM44249 |
208 | D>V | sporadic cancers; somatic mutation lung eye ovary liver pancreas central_nervous_system stomach haematopoietic_and_lymphoid_tissue [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
rs1429743956 COSM323942 COSM11290 COSM3937612 COSM323943 COSM1649394 CA397840186 |
209 | R>* | lung ovary oesophagus large_intestine urinary_tract soft_tissue breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA397840046 COSM1640841 rs1057519992 COSM1640844 VAR_045088 COSM1640842 COSM1640843 |
214 | H>P | a sporadic cancer; somatic mutation stomach Renal cell carcinoma, papillary, 1 (rccp1) [UniProt, Cosmic, Ensembl] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
rs587781386 VAR_047177 CA000305 COSM46272 COSM44407 |
214 | H>Q | sporadic cancers; somatic mutation cervix ovary Li-fraumeni syndrome 1 (lfs1) large_intestine [UniProt, Cosmic, Ensembl] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1555525759 RCV000581621 |
215 | S>missing | No |
ClinVar dbSNP |
|
|
COSM3937611 COSM126983 COSM1646845 COSM44817 rs786201592 COSM126982 CA397839876 |
221 | E>* | lung ovary upper_aerodigestive_tract liver oesophagus large_intestine urinary_tract central_nervous_system breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA287488301 COSM44456 rs138983188 VAR_045130 |
223 | P>H | sporadic cancers; somatic mutation upper_aerodigestive_tract [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt ESP dbSNP |
|
COSM707900 rs267605076 COSM1646847 COSM326732 RCV000786831 CA397839776 COSM1649395 VAR_045135 COSM326731 COSM11451 COSM707899 COSM44945 |
224 | E>D | sporadic cancers; somatic mutation lung oesophagus large_intestine bone breast [UniProt, Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
rs746504075 CA001842 VAR_045144 |
225 | V>L | a sporadic cancer; somatic mutation [UniProt] | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs1597365543 COSM45607 CA397839527 |
226 | G>S | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
VAR_045161 CA16620622 COSM44313 RCV000482575 rs1064793603 |
229 | C>Y | sporadic cancers; somatic mutation lung breast [UniProt, Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA397839422 COSM44271 rs1597365431 |
230 | T>P | biliary_tract oesophagus bone [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1597365411 CA397839397 |
231 | T>P | No |
ClinGen Ensembl |
|
|
COSM43860 VAR_045185 CA397839271 rs144340710 |
235 | N>I | sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) large_intestine skin [UniProt, Ensembl, Cosmic] | No |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs794727846 RCV000179771 |
235 | N>missing | No |
ClinVar dbSNP |
|
|
COSM1172471 COSM44693 COSM1172470 RCV000161069 VAR_045194 CA000346 rs730882026 |
236 | Y>S | sporadic cancers; somatic mutation oesophagus haematopoietic_and_lymphoid_tissue [UniProt, Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM44415 COSM1189384 COSM301402 COSM99646 rs587782664 COSM11063 CA287488027 COSM10834 COSM301403 COSM3378348 COSM99648 COSM1640835 COSM1640834 COSM3378444 COSM1189385 |
237 | M>I | upper_aerodigestive_tract liver urinary_tract central_nervous_system stomach bone testis lung ovary thyroid pancreas oesophagus large_intestine soft_tissue haematopoietic_and_lymphoid_tissue breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
RCV000482236 VAR_045197 CA16620621 COSM45032 rs765848205 |
237 | M>R | sporadic cancers; somatic mutation pancreas prostate haematopoietic_and_lymphoid_tissue [UniProt, Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
COSM984916 rs876660807 CA10580926 VAR_045204 COSM10777 COSM3701291 COSM984914 COSM1717141 |
239 | N>D | upper_aerodigestive_tract biliary_tract NS liver central_nervous_system endometrium urinary_tract stomach sporadic cancers; somatic mutation lung ovary oesophagus large_intestine prostate haematopoietic_and_lymphoid_tissue breast Renal cell carcinoma, papillary, 1 (rccp1) [Cosmic, UniProt, Ensembl] | No |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
rs397516437 RCV000036534 |
240 | S>missing | No |
ClinVar dbSNP |
|
|
rs1131691541 RCV000493285 |
240 | S>missing | No |
ClinVar dbSNP |
|
|
COSM2744611 VAR_045222 COSM342677 COSM1610839 COSM44935 COSM1610838 COSM342678 CA001776 COSM11133 COSM3717642 rs121912655 |
242 | C>S | thymus upper_aerodigestive_tract liver central_nervous_system endometrium stomach sporadic cancers; somatic mutation lung kidney ovary pancreas oesophagus large_intestine haematopoietic_and_lymphoid_tissue breast [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM251397 COSM2744612 COSM3403262 CA000361 COSM251396 COSM10646 rs121912655 VAR_045224 |
242 | C>Y | upper_aerodigestive_tract liver central_nervous_system urinary_tract bone lung ovary large_intestine prostate soft_tissue a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation haematopoietic_and_lymphoid_tissue breast [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
CA397839049 COSM43726 COSM43765 rs786203117 |
243 | M>L | lung ovary large_intestine endometrium central_nervous_system skin stomach breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA000376 COSM1579896 rs587780074 COSM11376 COSM1579895 RCV000115734 VAR_005976 COSM3403261 COSM2744604 |
246 | M>R | sporadic cancers; somatic mutation upper_aerodigestive_tract oesophagus large_intestine central_nervous_system skin breast [UniProt, Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
VAR_045241 CA397838982 rs1452189221 COSM45005 |
247 | N>D | sporadic cancers; somatic mutation urinary_tract soft_tissue prostate haematopoietic_and_lymphoid_tissue [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
rs1555525485 CA919785720 |
248 | R>AA* | No |
ClinGen Ensembl |
|
|
RCV000161070 CA000396 rs730882027 COSM43829 VAR_033038 |
251 | I>S | sporadic cancers; somatic mutation ovary oesophagus large_intestine central_nervous_system stomach small_intestine haematopoietic_and_lymphoid_tissue breast [UniProt, Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
CA397838899 RCV000506798 rs730882027 COSM11213 |
251 | I>T | large_intestine stomach haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
VAR_045267 RCV000601887 COSM307261 COSM44993 CA397838859 rs1555525465 COSM307262 |
253 | T>N | sporadic cancers; somatic mutation liver haematopoietic_and_lymphoid_tissue [UniProt, Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA397837758 COSM2744574 COSM1230107 rs1330865474 COSM45035 VAR_045272 COSM1230106 COSM3403259 |
254 | I>S | sporadic cancers; somatic mutation lung oesophagus large_intestine central_nervous_system endometrium haematopoietic_and_lymphoid_tissue [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
COSM3742465 COSM3742464 rs779761818 COSM3742462 CA397837734 COSM43699 COSM3742463 |
257 | L>V | liver pancreas central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
VAR_045292 rs745425759 CA000408 COSM45615 |
259 | D>G | sporadic cancers; somatic mutation upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) stomach [UniProt, Cosmic, Ensembl] | No |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
rs200579969 VAR_045307 CA001584 |
262 | G>C | a sporadic cancer; somatic mutation [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA397837207 rs1597362366 COSM43959 |
264 | L>I | lung genital_tract upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1057519990 COSM44891 COSM297539 CA397837139 |
266 | G>* | lung ovary upper_aerodigestive_tract pancreas large_intestine skin pleura breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs55832599 COSM11183 COSM1640829 VAR_036507 CA000423 COSM179804 COSM3717629 |
267 | R>W | sporadic cancers; somatic mutation lung ovary thymus liver oesophagus large_intestine skin central_nervous_system stomach prostate haematopoietic_and_lymphoid_tissue [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD |
|
rs1597362155 COSM44331 CA397837083 |
269 | S>R | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM165083 CA397837052 COSM44262 COSM45297 rs1057519988 COSM44156 |
270 | F>L | lung ovary upper_aerodigestive_tract biliary_tract oesophagus large_intestine urinary_tract central_nervous_system stomach haematopoietic_and_lymphoid_tissue breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA397836977 COSM43843 COSM3719992 rs121913343 COSM3719990 COSM3719991 |
273 | R>G | lung Medulloblastoma (mdb) upper_aerodigestive_tract ovary Li-fraumeni syndrome 1 (lfs1) pancreas oesophagus urinary_tract central_nervous_system stomach haematopoietic_and_lymphoid_tissue [Cosmic, Ensembl] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1131691029 COSM44114 CA397836928 |
276 | A>T | biliary_tract large_intestine urinary_tract stomach haematopoietic_and_lymphoid_tissue breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA397836898 rs1057523347 COSM417972 COSM44972 RCV000582104 |
277 | C>* | lung upper_aerodigestive_tract ovary oesophagus large_intestine urinary_tract haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA397836909 rs1064795369 VAR_006000 COSM45074 |
277 | C>G | sporadic cancers; somatic mutation lung large_intestine skin soft_tissue [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP |
|
rs1064795369 VAR_045373 COSM45871 CA16620617 |
277 | C>R | sporadic cancers; somatic mutation large_intestine [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP |
|
CA397836903 rs763098116 COSM44992 |
277 | C>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs763098116 CA000438 VAR_045375 COSM43737 |
277 | C>Y | peritoneum liver an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation oesophagus large_intestine skin urinary_tract bone stomach haematopoietic_and_lymphoid_tissue breast [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
CA10575441 rs730882008 COSM3712576 COSM44338 COSM99936 COSM1646815 VAR_045387 |
282 | R>Q | peritoneum upper_aerodigestive_tract liver central_nervous_system skin bone vulva lung pancreas oesophagus large_intestine prostate a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation haematopoietic_and_lymphoid_tissue breast Renal cell carcinoma, papillary, 1 (rccp1) [Cosmic, UniProt, Ensembl] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD |
|
CA001486 rs149633775 VAR_045389 COSM44831 |
283 | R>S | a sporadic cancer; somatic mutation stomach [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_006022 COSM1646818 CA397836767 COSM44352 rs1204379654 COSM707066 |
284 | T>P | sporadic cancers; somatic mutation lung upper_aerodigestive_tract ovary stomach haematopoietic_and_lymphoid_tissue breast [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP |
|
COSM43919 rs786201059 COSM318163 COSM1649346 CA397836703 |
286 | E>* | lung upper_aerodigestive_tract ovary liver oesophagus large_intestine skin urinary_tract haematopoietic_and_lymphoid_tissue vulva [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA397836616 COSM1480056 COSM45446 rs1555525154 |
289 | L>F | large_intestine haematopoietic_and_lymphoid_tissue breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM96340 rs1555525154 RCV000588420 VAR_045409 CA397836620 |
289 | L>V | sporadic cancers; somatic mutation lung [UniProt, Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs55819519 CA397836587 COSM44639 |
290 | R>L | ovary upper_aerodigestive_tract vulva [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs372613518 VAR_045415 COSM44446 CA287486593 |
291 | K>N | sporadic cancers; somatic mutation pancreas urinary_tract breast [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt ESP dbSNP |
|
rs781490101 VAR_045416 COSM43747 CA001429 |
291 | K>R | sporadic cancers; somatic mutation lung central_nervous_system [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
COSM45534 VAR_045428 CA397836506 rs1305324490 |
294 | E>D | sporadic cancers; somatic mutation lung soft_tissue [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
VAR_045434 rs751713111 CA397836491 COSM45340 |
295 | P>R | a sporadic cancer; somatic mutation large_intestine [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_045439 COSM44975 RCV000087174 rs483352696 CA000476 |
296 | H>R | a sporadic cancer; somatic mutation breast [UniProt, Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs750578863 CA397836439 |
297 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201744589 VAR_045448 COSM44031 CA000483 |
298 | E>K | sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) haematopoietic_and_lymphoid_tissue [UniProt, Ensembl, Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs201744589 COSM45938 CA397836431 VAR_045449 |
298 | E>Q | sporadic cancers; somatic mutation Li-fraumeni syndrome 1 (lfs1) breast [UniProt, Ensembl, Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555525054 RCV000584285 |
299 | L>missing | No |
ClinVar dbSNP |
|
|
rs909643864 CA397836370 |
300 | P>H | No |
ClinGen Ensembl |
|
|
rs909643864 CA287486577 COSM43766 VAR_045456 |
300 | P>L | sporadic cancers; somatic mutation upper_aerodigestive_tract ovary oesophagus endometrium stomach [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
COSM99947 COSM3388168 COSM1640820 CA000495 COSM10663 rs121913344 |
306 | R>* | upper_aerodigestive_tract biliary_tract NS liver urinary_tract endometrium central_nervous_system bone stomach small_intestine lung kidney ovary Li-fraumeni syndrome 1 (lfs1) pancreas oesophagus large_intestine haematopoietic_and_lymphoid_tissue breast [Cosmic, Ensembl] | No |
ClinGen cosmic curated Ensembl |
|
CA397836165 rs1457582183 COSM35846 COSM2150561 COSM2150562 |
307 | A>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs2073160651 RCV001091168 |
310 | N>missing | No |
ClinVar dbSNP |
|
|
COSM1386582 CA397836124 COSM235694 rs1597359691 |
310 | N>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1367492395 VAR_045492 CA397836050 |
313 | S>R | a sporadic cancer; somatic mutation [UniProt] | No |
ClinGen UniProt TOPMed dbSNP |
|
rs772773208 CA397835996 |
316 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA397835860 VAR_047211 COSM46469 rs1432281680 |
323 | L>V | ovary a sporadic cancer; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
rs1555524970 RCV000583103 |
324 | D>missing | No |
ClinVar dbSNP |
|
|
rs1177881399 CA397835837 |
324 | D>G | No |
ClinGen gnomAD |
|
|
CA397835847 rs1064794810 |
324 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1000256867 CA287486513 |
326 | E>D | No |
ClinGen gnomAD |
|
|
rs1000256867 CA397835791 |
326 | E>D | No |
ClinGen gnomAD |
|
|
COSM44823 CA10584585 rs879254077 COSM99722 RCV000235861 |
327 | Y>* | ovary upper_aerodigestive_tract biliary_tract prostate [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1597359175 COSM46158 CA397835751 |
328 | F>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM142996 CA287486504 rs969930693 COSM46146 VAR_045525 |
329 | T>I | upper_aerodigestive_tract a sporadic cancer; somatic mutation skin [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
rs1597359140 CA397835704 COSM46157 |
330 | L>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM3388350 COSM1646823 COSM179802 CA287486501 COSM96339 rs11575996 COSM179803 COSM3388351 VAR_045529 COSM1158345 |
331 | Q>H | sporadic cancers; somatic mutation lung liver pancreas large_intestine [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
CA397835679 rs1597359130 |
331 | Q>K | No |
ClinGen Ensembl |
|
|
RCV000479182 VAR_045531 CA16620611 rs1064795056 |
331 | Q>R | sporadic cancers; somatic mutation [UniProt] | No |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs769934890 CA000888 |
333 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1286563734 CA397832871 |
334 | G>E | No |
ClinGen gnomAD |
|
|
COSM1563607 COSM1563608 CA397832675 rs1237829645 |
339 | E>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM46153 CA000017 rs17882252 VAR_022316 |
339 | E>K | upper_aerodigestive_tract a sporadic cancer; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1237829645 CA397832671 |
339 | E>V | No |
ClinGen gnomAD |
|
|
COSM307329 rs1463722976 CA397832641 |
340 | M>I | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
VAR_047213 rs375338359 CA000835 COSM45278 |
342 | R>Q | sporadic cancers; somatic mutation upper_aerodigestive_tract Li-fraumeni syndrome 1 (lfs1) [UniProt, Cosmic, Ensembl] | No |
ClinGen cosmic curated UniProt ESP ExAC dbSNP gnomAD |
|
CA287485739 rs375573770 |
343 | E>Q | No |
ClinGen ESP |
|
|
COSM44083 rs1567542019 CA397832461 COSM1522201 |
346 | E>* | lung adrenal_gland urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1567542019 CA397832455 |
346 | E>K | No |
ClinGen Ensembl |
|
|
rs1597349147 COSM1191612 CA397832443 COSM45717 |
347 | A>T | central_nervous_system breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1057519625 RCV000424672 |
349 | E>missing | No |
ClinVar dbSNP |
|
|
CA397832378 rs1567541975 |
349 | E>Q | No |
ClinGen Ensembl |
|
|
rs768046010 CA000823 |
350 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA397832268 COSM3362446 COSM3362447 rs1597349035 |
351 | K>N | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1157427821 CA397832145 |
355 | A>T | No |
ClinGen gnomAD |
|
|
rs766786605 CA287485729 |
356 | G>R | Li-fraumeni syndrome 1 (lfs1) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763426446 CA000797 |
357 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1483922249 CA397831943 |
359 | P>L | No |
ClinGen gnomAD |
|
|
VAR_045563 rs35993958 CA000030 |
360 | G>V | Li-fraumeni syndrome 1 (lfs1) a sporadic cancer; somatic mutation [Ensembl, UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA000035 rs267605075 VAR_045568 |
365 | H>Y | Li-fraumeni syndrome 1 (lfs1) a familial cancer not matching LFS; germline mutation and in a sporadic cancer; somatic mutation [Ensembl, UniProt] | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
VAR_022317 CA000036 rs17881470 COSM44832 |
366 | S>A | a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation haematopoietic_and_lymphoid_tissue [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs749150541 CA000747 |
367 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs786204227 CA287485486 |
368 | H>D | No |
ClinGen Ensembl |
|
|
CA397830875 rs1289241865 |
368 | H>Q | No |
ClinGen gnomAD |
|
|
CA397830764 RCV000507724 rs876658876 |
372 | K>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA000676 rs587781858 |
374 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000161058 rs730882017 |
375 | Q>missing | No |
ClinVar dbSNP |
|
|
rs764011631 CA397830656 |
375 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
COSM1386546 rs1597345617 CA397830655 |
376 | S>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA397830630 rs774269719 |
377 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA000671 rs80184930 |
378 | S>P | No |
ClinGen ExAC gnomAD |
|
|
RCV000484106 rs1064793281 |
384 | M>missing | No |
ClinVar dbSNP |
|
|
rs1597345344 CA397830333 |
384 | M>I | No |
ClinGen Ensembl |
|
|
CA000669 rs769664911 |
392 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1192921623 CA397829955 |
393 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1555524079 CA397829931 |
394 | D>R | No |
ClinGen Ensembl |
9 associated diseases with P04637
[MIM: 133239]: Esophageal cancer (ESCR)
A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 151623]: Li-Fraumeni syndrome (LFS)
An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers
[MIM: 275355]: Squamous cell carcinoma of the head and neck (HNSCC)
A non-melanoma skin cancer affecting the head and neck. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes. Note=The gene represented in this entry is involved in disease pathogenesis.
[MIM: 211980]: Lung cancer (LNCR)
A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes
[MIM: 260500]: Papilloma of choroid plexus (CPP)
A benign tumor of neuroectodermal origin that generally occurs in childhood, but has also been reported in adults. Although generally found within the ventricular system, choroid plexus papillomas can arise ectopically in the brain parenchyma or disseminate throughout the neuraxis. Patients present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures. {ECO:0000269|PubMed:12085209}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 202300]: Adrenocortical carcinoma (ADCC)
A malignant neoplasm of the adrenal cortex and a rare childhood tumor. It occurs with increased frequency in patients with Beckwith-Wiedemann syndrome and Li-Fraumeni syndrome. {ECO:0000269|PubMed:11481490}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 614740]: Basal cell carcinoma 7 (BCC7)
A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. It is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. {ECO:0000269|PubMed:21946351}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 618165]: Bone marrow failure syndrome 5 (BMFS5)
A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS5 is an autosomal dominant form characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures. {ECO:0000269|PubMed:30146126}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers
- A non-melanoma skin cancer affecting the head and neck. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes. Note=The gene represented in this entry is involved in disease pathogenesis.
- A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes
- A benign tumor of neuroectodermal origin that generally occurs in childhood, but has also been reported in adults. Although generally found within the ventricular system, choroid plexus papillomas can arise ectopically in the brain parenchyma or disseminate throughout the neuraxis. Patients present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures. {ECO:0000269|PubMed:12085209}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A malignant neoplasm of the adrenal cortex and a rare childhood tumor. It occurs with increased frequency in patients with Beckwith-Wiedemann syndrome and Li-Fraumeni syndrome. {ECO:0000269|PubMed:11481490}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. It is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. {ECO:0000269|PubMed:21946351}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS5 is an autosomal dominant form characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures. {ECO:0000269|PubMed:30146126}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for P04637
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR11447 | CELLULAR TUMOR ANTIGEN P53 |
| PANTHER Subfamily | PTHR11447:SF6 | CELLULAR TUMOR ANTIGEN P53 |
| PANTHER Protein Class |
P53-like transcription factor
immunoglobulin fold transcription factor |
|
| PANTHER Pathway Category |
p53 pathway feedback loops 2 p53 p53 pathway by glucose deprivation p53 p53 pathway p53 Apoptosis signaling pathway p53 P53 pathway feedback loops 1 p53 Huntington disease p53 p53 pathway p53 Wnt signaling pathway p53 |
|
17 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| PML body | A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| replication fork | The Y-shaped region of a replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes. |
| site of double-strand break | A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
| transcription regulator complex | A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription. |
| transcription repressor complex | A protein complex that possesses activity that prevents or downregulates transcription. |
37 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP-dependent DNA/DNA annealing activity | An ATP-dependent activity that facilitates the formation of a complementary double-stranded DNA molecule. |
| chaperone binding | Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport. |
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by some RNA polymerase. The proximal promoter is in cis with and relatively close to the core promoter. |
| copper ion binding | Binding to a copper (Cu) ion. |
| core promoter sequence-specific DNA binding | Binding to a sequence of DNA that is part of a core promoter region. The core promoter is composed of the transcription start site and binding sites for the RNA polymerase and the basal transcription machinery. The transcribed region might be described as a gene, cistron, or operon. |
| disordered domain specific binding | Binding to a disordered domain of a protein. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-binding transcription activator activity | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets. |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription repressor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| general transcription initiation factor binding | Binding to a general transcription initiation factor, a protein that contributes to transcription start site selection and transcription initiation. |
| histone acetyltransferase binding | Binding to an histone acetyltransferase. |
| histone deacetylase binding | Binding to histone deacetylase. |
| histone deacetylase regulator activity | Binds to and modulates the activity of histone deacetylase. |
| identical protein binding | Binding to an identical protein or proteins. |
| MDM2/MDM4 family protein binding | Binding to a member of the MDM2/MDM4 protein family, comprising negative regulators of p53. |
| mRNA 3'-UTR binding | Binding to a 3' untranslated region of an mRNA molecule. |
| p53 binding | Binding to one of the p53 family of proteins. |
| promoter-specific chromatin binding | Binding to a section of chromatin that is associated with gene promoter sequences of DNA. |
| protease binding | Binding to a protease or a peptidase. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein N-terminus binding | Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| protein phosphatase 2A binding | Binding to protein phosphatase 2A. |
| protein phosphatase binding | Binding to a protein phosphatase. |
| protein self-association | Binding to a domain within the same polypeptide. |
| receptor tyrosine kinase binding | Binding to a receptor that possesses protein tyrosine kinase activity. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
| TFIID-class transcription factor complex binding | Binding to a general RNA polymerase II transcription factor belonging to the TFIID complex, one of the factors involved in formation of the preinitiation complex (PIC) by RNA polymerase II. |
| transcription cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
| zinc ion binding | Binding to a zinc ion (Zn). |
117 GO annotations of biological process
| Name | Definition |
|---|---|
| autophagy | The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation. |
| B cell lineage commitment | The process in which a lymphoid progenitor cell becomes committed to become any type of B cell. |
| bone marrow development | The process whose specific outcome is the progression of the bone marrow over time, from its formation to the mature structure. |
| cardiac septum morphogenesis | The process in which the anatomical structure of a cardiac septum is generated and organized. A cardiac septum is a partition that separates parts of the heart. |
| cell aging | OBSOLETE. An aging process that has as participant a cell after a cell has stopped dividing. Cell aging may occur when a cell has temporarily stopped dividing through cell cycle arrest (GO:0007050) or when a cell has permanently stopped dividing, in which case it is undergoing cellular senescence (GO:0090398). May precede cell death (GO:0008219) and succeed cell maturation (GO:0048469). |
| cellular response to actinomycin D | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an actinomycin D stimulus. |
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| cellular response to gamma radiation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum. |
| cellular response to glucose starvation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of glucose. |
| cellular response to hypoxia | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| cellular response to ionizing radiation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ionizing radiation stimulus. Ionizing radiation is radiation with sufficient energy to remove electrons from atoms and may arise from spontaneous decay of unstable isotopes, resulting in alpha and beta particles and gamma rays. Ionizing radiation also includes X-rays. |
| cellular response to UV | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
| cellular response to UV-C | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a UV-C radiation stimulus. UV-C radiation (UV-C light) spans the wavelengths 100 to 280 nm. |
| cellular response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| cerebellum development | The process whose specific outcome is the progression of the cerebellum over time, from its formation to the mature structure. The cerebellum is the portion of the brain in the back of the head between the cerebrum and the pons. In mice, the cerebellum controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills. |
| circadian behavior | The specific behavior of an organism that recurs with a regularity of approximately 24 hours. |
| determination of adult lifespan | The pathways that regulate the duration of the adult phase of the life-cycle of an animal. |
| DNA damage response, signal transduction by p53 class mediator | A cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage. |
| DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest | A cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage and resulting in the stopping or reduction in rate of the cell cycle. |
| DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator | A cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, resulting in the induction of the transcription of p21 (also known as WAF1, CIP1 and SDI1) or any equivalent protein, in response to the detection of DNA damage. |
| double-strand break repair | The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix. |
| embryonic organ development | Development, taking place during the embryonic phase, of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. |
| entrainment of circadian clock by photoperiod | The synchronization of a circadian rhythm to photoperiod, the intermittent cycle of light (day) and dark (night). |
| ER overload response | The series of molecular signals initiated by the accumulation of normal or misfolded proteins in the endoplasmic reticulum and leading to activation of transcription by NF-kappaB. |
| gastrulation | A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. |
| hematopoietic progenitor cell differentiation | The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. |
| hematopoietic stem cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a hematopoietic stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| interferon-gamma-mediated signaling pathway | The series of molecular signals initiated by interferon-gamma binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Interferon gamma is the only member of the type II interferon found so far. |
| intrinsic apoptotic signaling pathway | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway starts with reception of an intracellular signal (e.g. DNA damage, endoplasmic reticulum stress, oxidative stress etc.), and ends when the execution phase of apoptosis is triggered. The intrinsic apoptotic signaling pathway is crucially regulated by permeabilization of the mitochondrial outer membrane (MOMP). |
| intrinsic apoptotic signaling pathway by p53 class mediator | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, and ends when the execution phase of apoptosis is triggered. |
| intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage, and ends when the execution phase of apoptosis is triggered. |
| intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to a stimulus indicating endoplasmic reticulum (ER) stress, and ends when the execution phase of apoptosis is triggered. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
| intrinsic apoptotic signaling pathway in response to hypoxia | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to hypoxia (lowered oxygen tension). Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. The pathway ends when the execution phase of apoptosis is triggered. |
| mitochondrial DNA repair | The process of restoring mitochondrial DNA after damage. |
| mitotic G1 DNA damage checkpoint signaling | A signal transduction process that contributes to a mitotic cell cycle G1/S transition DNA damage checkpoint. |
| mRNA transcription | The cellular synthesis of messenger RNA (mRNA) from a DNA template. |
| multicellular organism growth | The increase in size or mass of an entire multicellular organism, as opposed to cell growth. |
| necroptotic process | A programmed necrotic cell death process which begins when a cell receives a signal (e.g. a ligand binding to a death receptor or to a Toll-like receptor), and proceeds through a series of biochemical events (signaling pathways), characterized by activation of receptor-interacting serine/threonine-protein kinase 1 and/or 3 (RIPK1/3, also called RIP1/3) and by critical dependence on mixed lineage kinase domain-like (MLKL), and which typically lead to common morphological features of necrotic cell death. The process ends when the cell has died. The process is divided into a signaling phase, and an execution phase, which is triggered by the former. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of cell growth | Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of DNA replication | Any process that stops, prevents, or reduces the frequency, rate or extent of DNA replication. |
| negative regulation of fibroblast proliferation | Any process that stops, prevents, or reduces the frequency, rate or extent of multiplication or reproduction of fibroblast cells. |
| negative regulation of G1 to G0 transition | Any process that stops, prevents or reduces the frequency, rate or extent of G1 to G0 transition. |
| negative regulation of glucose catabolic process to lactate via pyruvate | Any process that stops, prevents or reduces the frequency, rate or extent of glucose catabolic process to lactate via pyruvate. |
| negative regulation of helicase activity | Any process that stops or reduces the activity of a helicase. |
| negative regulation of mitophagy | Any process that stops, prevents or reduces the frequency, rate or extent of mitophagy. |
| negative regulation of neuroblast proliferation | Any process that stops, prevents, or reduces the frequency, rate or extent of the proliferation of neuroblasts. |
| negative regulation of pentose-phosphate shunt | Any process that stops, prevents or reduces the frequency, rate or extent of pentose-phosphate shunt. |
| negative regulation of production of miRNAs involved in gene silencing by miRNA | Any process that stops, prevents or reduces the frequency, rate or extent of maturation of miRNAs. |
| negative regulation of proteolysis | Any process that stops, prevents, or reduces the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. |
| negative regulation of reactive oxygen species metabolic process | Any process that stops, prevents or reduces the frequency, rate or extent of reactive oxygen species metabolic process. |
| negative regulation of telomerase activity | Any process that stops or reduces the activity of the enzyme telomerase, which catalyzes of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1). |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| negative regulation of transcription, DNA-templated | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of transforming growth factor beta receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of any TGF-beta receptor signaling pathway. |
| neuron apoptotic process | Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. |
| nucleotide-excision repair | A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts). |
| oligodendrocyte apoptotic process | Any apoptotic process in an oligodendrocyte. Oligodendrocytes belong to a class of large neuroglial (macroglial) cells in the central nervous system, where they form the insulating myelin sheath of axons. |
| oxidative stress-induced premature senescence | A cellular senescence process associated with the dismantling of a cell as a response to oxidative stress, e.g. high levels of reactive oxygen species, such as superoxide anions, hydrogen peroxide, and hydroxyl radicals. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of cardiac muscle cell apoptotic process | Any process that increases the rate or extent of cardiac cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a cardiac muscle cell and result in its death. |
| positive regulation of cell aging | OBSOLETE. Any process that increases the rate, frequency, or extent of cell aging. Cell aging is the progression of the cell from its inception to the end of its lifespan. |
| positive regulation of execution phase of apoptosis | Any process that activates or increases the frequency, rate or extent of execution phase of apoptosis. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of histone deacetylation | Any process that activates or increases the frequency, rate or extent of the removal of acetyl groups from histones. |
| positive regulation of intrinsic apoptotic signaling pathway | Any process that activates or increases the frequency, rate or extent of intrinsic apoptotic signaling pathway. |
| positive regulation of mitochondrial membrane permeability | Any process that increases the frequency, rate or extent of the passage or uptake of molecules by the mitochondrial membrane. |
| positive regulation of neuron apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death of neurons by apoptotic process. |
| positive regulation of peptidyl-tyrosine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine. |
| positive regulation of pri-miRNA transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of microRNA (miRNA) gene transcription. |
| positive regulation of production of miRNAs involved in gene silencing by miRNA | Any process that activates or increases the frequency, rate or extent of maturation of miRNAs. |
| positive regulation of programmed necrotic cell death | Any process that increases the frequency, rate or extent of programmed necrotic cell death. |
| positive regulation of reactive oxygen species metabolic process | Any process that activates or increases the frequency, rate or extent of reactive oxygen species metabolic process. |
| positive regulation of release of cytochrome c from mitochondria | Any process that increases the rate, frequency or extent of release of cytochrome c from mitochondria, the process in which cytochrome c is enabled to move from the mitochondrial intermembrane space into the cytosol, which is an early step in apoptosis and leads to caspase activation. |
| positive regulation of RNA polymerase II transcription preinitiation complex assembly | Any process that activates or increases the frequency, rate or extent of RNA polymerase II transcriptional preinitiation complex assembly. |
| positive regulation of thymocyte apoptotic process | Any process that activates or increases the frequency, rate or extent of thymocyte death by apoptotic process. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of an endoplasmic reticulum stress. |
| positive regulation of transcription from RNA polymerase II promoter in response to hypoxia | Any process that increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of a hypoxia stimulus. |
| positive regulation of transcription from RNA polymerase II promoter in response to stress | Any process that increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). |
| positive regulation of transcription, DNA-templated | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| protein import into nucleus | The directed movement of a protein from the cytoplasm to the nucleus. |
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| protein tetramerization | The formation of a protein tetramer, a macromolecular structure consisting of four noncovalently associated identical or nonidentical subunits. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| Ras protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| regulation of cell cycle G2/M phase transition | Any signalling pathway that modulates the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G2 phase to M phase of the cell cycle. |
| regulation of cellular senescence | Any process that modulates the frequency, rate or extent of cellular senescence. |
| regulation of DNA damage response, signal transduction by p53 class mediator | Any process that modulates the frequency, rate or extent of the cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage. |
| regulation of fibroblast apoptotic process | Any process that modulates the frequency, rate or extent of fibroblast apoptotic process. |
| regulation of intrinsic apoptotic signaling pathway by p53 class mediator | Any process that modulates the frequency, rate or extent of intrinsic apoptotic signaling pathway by p53 class mediator. |
| regulation of mitochondrial membrane permeability involved in apoptotic process | Any regulation of mitochondrial membrane permeability that is involved in apoptotic process. |
| regulation of tissue remodeling | Any process that modulates the frequency, rate, or extent of tissue remodeling. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| regulation of transcription from RNA polymerase II promoter in response to DNA damage | Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of DNA damage. |
| regulation of transcription, DNA-templated | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| release of cytochrome c from mitochondria | The process that results in the movement of cytochrome c from the mitochondrial intermembrane space into the cytosol, which is part of the apoptotic signaling pathway and leads to caspase activation. |
| replicative senescence | A cell aging process associated with the dismantling of a cell as a response to telomere shortening and/or cellular aging. |
| response to antibiotic | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antibiotic stimulus. An antibiotic is a chemical substance produced by a microorganism which has the capacity to inhibit the growth of or to kill other microorganisms. |
| response to gamma radiation | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum. |
| response to ischemia | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply. |
| response to salt stress | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating an increase or decrease in the concentration of salt (particularly but not exclusively sodium and chloride ions) in the environment. |
| response to X-ray | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of X-ray radiation. An X-ray is a form of electromagnetic radiation with a wavelength in the range of 10 nanometers to 100 picometers (corresponding to frequencies in the range 30 PHz to 3 EHz). |
| rRNA transcription | The synthesis of ribosomal RNA (rRNA), any RNA that forms part of the ribosomal structure, from a DNA template. |
| signal transduction by p53 class mediator | An intracellular signaling process that is induced by the cell cycle regulator phosphoprotein p53 or an equivalent protein. |
| somitogenesis | The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo. |
| T cell differentiation in thymus | The process in which a precursor cell type acquires the specialized features of a T cell via a differentiation pathway dependent upon transit through the thymus. |
| T cell lineage commitment | The process in which a lymphoid progenitor cell becomes committed to becoming any type of T cell. |
| T cell proliferation involved in immune response | The expansion of a T cell population by cell division as part of an immune response. |
| transforming growth factor beta receptor signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| tumor necrosis factor-mediated signaling pathway | The series of molecular signals initiated by tumor necrosis factor binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| viral process | A multi-organism process in which a virus is a participant. The other participant is the host. Includes infection of a host cell, replication of the viral genome, and assembly of progeny virus particles. In some cases the viral genetic material may integrate into the host genome and only subsequently, under particular circumstances, 'complete' its life cycle. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P41685 | TP53 | Cellular tumor antigen p53 | Felis catus (Cat) (Felis silvestris catus) | SS |
| O15350 | TP73 | Tumor protein p73 | Homo sapiens (Human) | SS |
| Q9H3D4 | TP63 | Tumor protein 63 | Homo sapiens (Human) | EV |
| O88898 | Tp63 | Tumor protein 63 | Mus musculus (Mouse) | SS |
| P10361 | Tp53 | Cellular tumor antigen p53 | Rattus norvegicus (Rat) | PR |
| Q9JJP6 | Tp63 | Tumor protein 63 | Rattus norvegicus (Rat) | SS |
| P56424 | TP53 | Cellular tumor antigen p53 | Macaca mulatta (Rhesus macaque) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEEPQSDPSV | EPPLSQETFS | DLWKLLPENN | VLSPLPSQAM | DDLMLSPDDI | EQWFTEDPGP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DEAPRMPEAA | PPVAPAPAAP | TPAAPAPAPS | WPLSSSVPSQ | KTYQGSYGFR | LGFLHSGTAK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SVTCTYSPAL | NKMFCQLAKT | CPVQLWVDST | PPPGTRVRAM | AIYKQSQHMT | EVVRRCPHHE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RCSDSDGLAP | PQHLIRVEGN | LRVEYLDDRN | TFRHSVVVPY | EPPEVGSDCT | TIHYNYMCNS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SCMGGMNRRP | ILTIITLEDS | SGNLLGRNSF | EVRVCACPGR | DRRTEEENLR | KKGEPHHELP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PGSTKRALPN | NTSSSPQPKK | KPLDGEYFTL | QIRGRERFEM | FRELNEALEL | KDAQAGKEPG |
| 370 | 380 | 390 | |||
| GSRAHSSHLK | SKKGQSTSRH | KKLMFKTEGP | DSD |