Q5U651
PR
Gene name |
RASIP1 |
Protein name |
Ras-interacting protein 1 |
Names |
Rain |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54922 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q5U651
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5KHO | X-ray | 278 A | A/B | 134-285 | PDB |
| 5KHQ | X-ray | 280 A | A/B | 134-285 | PDB |
| AF-Q5U651-F1 | Predicted | AlphaFoldDB |
714 variants for Q5U651
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309380209 rs929204771 |
3 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 3 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs941880305 CA309380204 |
8 | E>K | No |
ClinGen TOPMed |
|
|
CA406739552 rs1357613511 |
9 | G>D | No |
ClinGen Ensembl |
|
|
CA9557230 rs764089172 |
10 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767692838 CA9557227 |
13 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA406739524 rs1599753116 |
14 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 14 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9557226 rs762782867 |
15 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA406739476 rs1472638453 |
21 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 22 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234043771 CA406739432 |
27 | S>F | No |
ClinGen gnomAD |
|
|
CA406739434 rs1234043771 |
27 | S>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 29 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406739393 rs376929472 |
33 | A>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9557223 rs376929472 |
33 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1264142758 CA406739386 |
34 | K>N | No |
ClinGen TOPMed |
|
|
rs1290393698 CA406739379 |
36 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 37 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1202970542 CA406739364 |
38 | R>H | No |
ClinGen TOPMed |
|
|
rs776573700 CA9557222 |
39 | W>C | No |
ClinGen ExAC |
|
|
CA406739347 rs1599752949 |
41 | S>G | No |
ClinGen Ensembl |
|
|
CA9557220 rs746487861 |
42 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406739340 rs746487861 |
42 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374153783 CA406739336 |
42 | A>V | No |
ClinGen gnomAD |
|
|
CA406739330 rs1190658247 |
43 | A>V | No |
ClinGen TOPMed |
|
|
rs1568484436 CA406739293 |
47 | S>C | No |
ClinGen Ensembl |
|
|
CA406739286 rs1226379620 |
48 | S>F | No |
ClinGen TOPMed |
|
|
rs1021802556 CA309379951 |
49 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA406739275 rs1341370567 |
50 | S>L | No |
ClinGen TOPMed |
|
|
CA309379946 rs969701099 |
52 | T>A | No |
ClinGen TOPMed |
|
|
rs969701099 CA309379948 |
52 | T>S | No |
ClinGen TOPMed |
|
|
CA309379939 rs984595481 |
54 | S>N | No |
ClinGen Ensembl |
|
|
rs1030506466 CA309379937 |
55 | R>S | No |
ClinGen TOPMed |
|
|
CA406739229 rs1271767438 |
57 | S>R | No |
ClinGen gnomAD |
|
|
rs1215534120 CA406739206 |
61 | P>H | No |
ClinGen gnomAD |
|
|
CA406739198 rs1192897727 |
62 | P>Q | No |
ClinGen TOPMed |
|
|
rs1367778629 CA406739192 |
63 | P>L | No |
ClinGen gnomAD |
|
|
CA406739197 rs1371917045 |
63 | P>T | No |
ClinGen TOPMed |
|
|
CA309379934 rs900157180 |
65 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1017252799 CA309379933 |
67 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1026175181 CA309379932 |
73 | G>D | No |
ClinGen Ensembl |
|
|
CA406739108 rs1443663053 |
77 | A>E | No |
ClinGen gnomAD |
|
|
rs965882501 CA309379925 |
79 | G>R | No |
ClinGen gnomAD |
|
|
CA406739098 rs965882501 |
79 | G>W | No |
ClinGen gnomAD |
|
|
CA406739089 rs1346568035 |
80 | G>V | No |
ClinGen gnomAD |
|
|
rs1599751904 CA406739088 |
81 | A>T | No |
ClinGen Ensembl |
|
|
CA406739078 rs1313766154 |
82 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 82 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1395101056 CA406739061 |
85 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1395101056 CA406739062 |
85 | R>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 88 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756184027 CA9557212 |
91 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA406738997 rs1292118325 |
95 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 96 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406738969 rs1281075383 |
99 | G>A | No |
ClinGen gnomAD |
|
|
rs1049740468 CA309379895 |
102 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA406738954 rs1049740468 |
102 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA309379886 rs1047517477 |
103 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1215521942 CA406738942 |
104 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 104 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406738937 rs1385123989 |
105 | G>S | No |
ClinGen TOPMed |
|
|
rs759748367 CA9557209 |
106 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA406738924 rs1555765472 |
107 | G>* | No |
ClinGen Ensembl |
|
|
CA406738923 rs1446749511 |
107 | G>E | No |
ClinGen gnomAD |
|
|
CA406738915 rs1375556533 |
108 | G>V | No |
ClinGen gnomAD |
|
|
CA9557208 rs557918883 |
109 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406738912 rs1314129640 |
109 | P>S | No |
ClinGen gnomAD |
|
|
CA309379873 rs929145649 |
110 | G>A | No |
ClinGen TOPMed |
|
|
CA309379868 rs1053187842 |
111 | T>I | No |
ClinGen gnomAD |
|
|
rs765029522 CA9557207 |
114 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406738877 rs1430096957 |
115 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406738869 rs1180365188 |
116 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1485437787 CA406738863 |
117 | R>L | No |
ClinGen gnomAD |
|
|
CA309379857 rs928775893 |
118 | W>C | No |
ClinGen Ensembl |
|
|
CA309379855 rs1045994982 |
120 | S>N | No |
ClinGen TOPMed |
|
|
rs948968446 CA309379850 |
120 | S>R | No |
ClinGen TOPMed |
|
|
rs1291629847 CA406738825 |
123 | K>E | No |
ClinGen Ensembl |
|
|
rs984848859 CA309379839 |
125 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA309379846 rs984848859 |
125 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs768607870 CA9557204 |
125 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs543231869 CA309379827 |
126 | E>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA309379818 rs980140144 |
132 | A>D | No |
ClinGen TOPMed |
|
|
rs760154453 CA9557203 |
133 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406738764 rs1205771822 |
134 | E>K | No |
ClinGen gnomAD |
|
|
CA309379799 rs113417146 |
136 | P>L | No |
ClinGen Ensembl |
|
|
CA406738702 rs1360835896 |
144 | P>S | No |
ClinGen gnomAD |
|
|
CA9557202 rs775129376 |
145 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294664451 CA406738685 |
147 | V>F | No |
ClinGen gnomAD |
|
|
CA406738644 rs1457620930 |
153 | A>S | No |
ClinGen TOPMed |
|
|
CA406738640 rs1369337617 |
154 | G>R | No |
ClinGen gnomAD |
|
|
CA309379776 rs919019987 |
155 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1454451605 CA406738629 |
156 | A>T | No |
ClinGen TOPMed |
|
|
rs1298679979 CA406738620 |
157 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs971801070 CA309379767 |
159 | A>T | No |
ClinGen Ensembl |
|
|
CA406738561 rs1475027599 |
166 | A>V | No |
ClinGen gnomAD |
|
|
rs1190229764 CA406738541 |
169 | R>L | No |
ClinGen gnomAD |
|
|
rs1262835390 CA406738498 |
176 | V>A | No |
ClinGen TOPMed |
|
|
rs1599751468 CA406738493 |
177 | A>D | No |
ClinGen Ensembl |
|
|
rs953263753 CA309379747 |
178 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 179 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406738466 CA9557195 rs749694360 |
181 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9557194 rs752839907 |
183 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA309379704 rs781252011 |
184 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA9557193 rs781252011 |
184 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA406738441 rs1363887749 |
186 | A>S | No |
ClinGen gnomAD |
|
|
rs754992873 CA9557192 |
190 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406738411 rs751801226 |
191 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751801226 CA9557191 |
191 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766583933 CA9557190 |
193 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396336690 CA406738382 |
196 | S>G | No |
ClinGen gnomAD |
|
|
CA309379686 rs956420684 |
198 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1426877493 CA406738358 |
199 | V>M | No |
ClinGen TOPMed |
|
|
rs1455805584 CA406738347 |
200 | D>E | No |
ClinGen gnomAD |
|
|
rs1249177019 CA406738343 |
201 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406738345 rs1249177019 |
201 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1182592900 CA406738301 |
207 | A>T | No |
ClinGen gnomAD |
|
|
rs1193495813 CA406738248 |
216 | V>E | No |
ClinGen gnomAD |
|
|
rs923485756 CA406738249 |
216 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA309379667 rs923485756 |
216 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1176752189 CA406738222 |
220 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 222 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406738170 rs1299380272 |
228 | V>M | No |
ClinGen TOPMed |
|
|
rs1403892297 CA406738146 |
231 | D>E | No |
ClinGen TOPMed |
|
|
rs1005844715 CA309379622 |
232 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs998938978 CA309379615 |
234 | R>C | No |
ClinGen Ensembl |
|
|
rs1599751251 CA406738128 |
234 | R>H | No |
ClinGen Ensembl |
|
|
CA406738073 rs1280016347 |
243 | R>Q | No |
ClinGen TOPMed |
|
|
CA406738058 rs1307415778 |
246 | P>A | No |
ClinGen TOPMed |
|
|
CA406738057 rs1307415778 |
246 | P>S | No |
ClinGen TOPMed |
|
|
CA406738009 rs1599751210 |
253 | E>G | No |
ClinGen Ensembl |
|
|
CA406738004 rs1599751203 |
254 | L>V | No |
ClinGen Ensembl |
|
|
CA406737995 rs1253087830 |
255 | R>H | No |
ClinGen TOPMed |
|
| TCGA novel | 255 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs993453021 CA309379605 |
256 | G>D | No |
ClinGen TOPMed |
|
|
rs1599751171 CA406737977 |
258 | E>G | No |
ClinGen Ensembl |
|
|
CA406737981 rs1206458626 |
258 | E>K | No |
ClinGen gnomAD |
|
|
CA406737966 rs1599751143 |
259 | E>D | No |
ClinGen Ensembl |
|
|
CA406737969 rs1221968288 |
259 | E>G | No |
ClinGen TOPMed |
|
|
rs1266998013 CA406737958 |
261 | R>L | No |
ClinGen TOPMed |
|
|
rs530982185 CA309379604 |
261 | R>W | No |
ClinGen 1000Genomes |
|
|
rs1481321913 CA406737950 |
262 | R>L | No |
ClinGen TOPMed |
|
|
rs1599751116 CA406737946 |
263 | L>P | No |
ClinGen Ensembl |
|
|
CA406737941 rs1191541255 |
264 | E>A | No |
ClinGen TOPMed |
|
|
rs1191541255 CA406737940 |
264 | E>G | No |
ClinGen TOPMed |
|
|
rs1418796149 CA406737925 |
266 | E>A | No |
ClinGen TOPMed |
|
|
CA309379599 rs896297013 |
267 | A>T | No |
ClinGen TOPMed |
|
|
rs1237474085 CA406737915 |
268 | F>L | No |
ClinGen gnomAD |
|
|
CA406737909 rs1260841476 |
268 | F>L | No |
ClinGen gnomAD |
|
|
CA406737904 rs1370583795 |
269 | G>A | No |
ClinGen TOPMed |
|
|
CA309379596 rs1056335623 CA406737907 |
269 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1310433794 CA406737891 |
271 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs867521650 CA309379595 |
272 | D>E | No |
ClinGen TOPMed |
|
|
rs1289086689 CA406737886 |
272 | D>G | No |
ClinGen gnomAD |
|
|
rs1289086689 CA406737885 |
272 | D>V | No |
ClinGen gnomAD |
|
|
CA406737876 rs1439124156 |
273 | S>R | No |
ClinGen TOPMed |
|
|
CA406737875 rs1275811796 |
274 | E>K | No |
ClinGen TOPMed |
|
|
rs201718967 CA9557184 |
275 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201718967 CA309377433 |
275 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1381338384 CA406737850 |
276 | T>A | No |
ClinGen TOPMed |
|
|
CA406737848 rs1481992664 |
276 | T>N | No |
ClinGen gnomAD |
|
|
rs1381338384 CA406737851 |
276 | T>P | No |
ClinGen TOPMed |
|
|
rs979472552 CA309377419 |
277 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1234962704 CA406737839 |
278 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 278 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406737823 rs1349942692 |
280 | S>L | No |
ClinGen gnomAD |
|
|
CA406737811 rs1226399260 |
282 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406737812 rs1295183343 |
282 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1319229983 CA406737780 |
286 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1599746923 CA406737783 |
286 | N>T | No |
ClinGen Ensembl |
|
|
CA9557183 rs759072934 |
287 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759072934 CA406737778 |
287 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9557182 rs774182562 |
287 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759072934 CA309377406 |
287 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599746898 CA406737774 |
288 | S>P | No |
ClinGen Ensembl |
|
|
rs1275092364 CA406737772 |
288 | S>Y | No |
ClinGen TOPMed |
|
|
rs1021004881 CA309377389 |
289 | R>G | No |
ClinGen Ensembl |
|
|
rs1312328552 CA406737762 |
290 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA406737760 rs1312328552 |
290 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406737754 rs1377791817 |
291 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406737748 rs1373929586 |
292 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406737741 CA9557178 rs570946701 |
294 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs570946701 CA309377374 |
294 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1256256033 CA406737736 |
295 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1256256033 CA406737737 |
295 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9557177 rs769983706 |
296 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406737722 rs1386675095 |
297 | L>R | No |
ClinGen TOPMed |
|
|
rs1035178272 CA309377359 |
298 | A>T | No |
ClinGen Ensembl |
|
|
CA9557174 rs781626847 |
301 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs543403071 CA9557172 |
302 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9557173 rs755080781 |
302 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353761299 CA406737690 |
303 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1229950603 CA406737693 |
303 | G>R | No |
ClinGen gnomAD |
|
|
rs1353761299 CA406737688 |
303 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9557169 rs200226314 |
305 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 306 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1005221455 CA309377315 |
307 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1282955063 CA406737656 |
309 | P>L | No |
ClinGen gnomAD |
|
|
CA406737657 rs1409857667 |
309 | P>S | No |
ClinGen gnomAD |
|
|
CA9557167 rs534161771 |
310 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406737645 rs1046885611 |
311 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1456106333 CA406737648 |
311 | G>R | No |
ClinGen gnomAD |
|
|
CA309377299 rs1046885611 |
311 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776912733 CA9557166 |
313 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 314 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751172020 CA309377292 |
314 | G>D | No |
ClinGen Ensembl |
|
|
CA9557165 rs767527552 |
317 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9557164 rs369628707 |
317 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA309377290 rs767527552 |
317 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766011489 CA9557162 |
320 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA406737584 rs1375243353 |
321 | L>S | No |
ClinGen TOPMed |
|
|
rs1315357376 CA406737575 |
322 | S>F | No |
ClinGen TOPMed |
|
|
CA406737566 rs762669201 |
324 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380273790 CA406737553 |
326 | S>N | No |
ClinGen gnomAD |
|
|
CA9557160 rs772681145 |
326 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA406737547 rs1272802660 |
327 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 327 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309377275 rs754192259 |
328 | S>W | No |
ClinGen Ensembl |
|
|
rs777163928 CA9557157 |
331 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA406737515 rs1302886157 |
332 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 333 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769130629 CA9557156 |
335 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA406737496 COSM3389194 COSM3389195 rs1336842125 |
335 | R>W | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA406737491 rs1212754046 |
336 | R>Q | No |
ClinGen TOPMed |
|
|
rs1394116558 CA406737487 |
337 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs780180077 CA9557154 |
339 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
CA309377231 rs991331231 |
341 | E>K | No |
ClinGen TOPMed |
|
|
CA406737459 rs1157449597 |
341 | E>V | No |
ClinGen gnomAD |
|
|
CA9557149 rs746117962 |
342 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 342 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467874828 CA406737441 |
344 | Q>R | No |
ClinGen gnomAD |
|
|
rs149474093 CA9557147 |
345 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9557146 rs752513577 |
346 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs376788451 CA309377207 |
347 | L>F | No |
ClinGen ESP TOPMed |
|
|
rs767617469 CA9557145 |
350 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA406737401 rs1453036848 |
350 | A>V | No |
ClinGen TOPMed |
|
|
rs754958988 CA9557144 |
352 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771356611 CA309377192 |
353 | A>G | No |
ClinGen Ensembl |
|
|
CA9557143 rs751384444 |
353 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9557141 COSM332750 rs762320323 |
355 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9557140 rs750121758 |
356 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001383061 CA309377179 |
358 | I>F | No |
ClinGen TOPMed |
|
|
CA9557139 rs764838325 |
360 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762215588 CA9557138 |
362 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9557137 rs776967874 |
363 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9557136 rs769220416 |
364 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9557135 rs139458173 |
365 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9557134 rs139458173 |
365 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1453673001 CA406737302 |
367 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9557133 rs576524717 |
368 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1195237269 CA406737271 |
371 | Q>R | No |
ClinGen gnomAD |
|
|
rs1038207228 CA309377133 |
373 | L>F | No |
ClinGen Ensembl |
|
|
rs779241127 CA9557132 |
380 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 380 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779241127 CA9557131 |
380 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212515213 CA406737161 |
388 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9557129 rs748020158 |
389 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1215263537 CA406737154 |
389 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA406737155 rs1215263537 |
389 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9557127 rs201455569 |
392 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201455569 CA406737132 |
392 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9557111 rs749531901 |
394 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406736440 rs1410804758 |
396 | V>M | No |
ClinGen gnomAD |
|
|
CA9557110 rs778090175 |
397 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1186006878 CA406736428 |
398 | Y>H | No |
ClinGen gnomAD |
|
|
CA9557109 rs768602596 |
399 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1474922825 CA406736420 |
399 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA406736404 rs746748606 |
401 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746748606 CA9557108 |
401 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479932309 CA406736406 |
401 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs929364189 CA309370463 |
403 | E>G | No |
ClinGen gnomAD |
|
|
rs1270904619 CA406736397 |
403 | E>K | No |
ClinGen gnomAD |
|
|
rs1294566784 CA406736384 |
404 | Q>H | No |
ClinGen gnomAD |
|
|
rs750017717 CA9557105 |
405 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1298593215 CA406736371 |
406 | V>A | No |
ClinGen gnomAD |
|
|
rs1372516730 CA406736375 |
406 | V>M | No |
ClinGen gnomAD |
|
|
CA9557104 rs778401168 |
409 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA406736352 rs1391926847 |
409 | R>L | No |
ClinGen gnomAD |
|
|
rs1163089084 CA406736350 |
410 | G>S | No |
ClinGen gnomAD |
|
|
CA406736332 rs1166964290 |
412 | N>K | No |
ClinGen gnomAD |
|
|
CA406736328 rs1417924470 |
413 | S>L | No |
ClinGen gnomAD |
|
|
CA406736320 rs1178228161 |
414 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA406736310 rs1251484468 |
416 | R>H | No |
ClinGen gnomAD |
|
|
rs976024679 CA309370433 |
417 | G>E | No |
ClinGen TOPMed |
|
|
CA9557099 rs557995225 |
417 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs557995225 CA9557100 |
417 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1335039504 CA406736302 |
418 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 419 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1236232212 | 419 | S>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138914731 CA9557098 |
420 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs945159793 CA309370413 |
420 | P>S | No |
ClinGen TOPMed |
|
|
CA9557096 rs774939039 |
421 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1324948844 CA406736279 |
422 | P>L | No |
ClinGen gnomAD |
|
|
rs766586491 CA9557095 |
422 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9557094 rs763085115 |
423 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406736269 rs1451744471 |
424 | V>L | No |
ClinGen gnomAD |
|
|
rs1363236497 CA406736254 |
426 | T>N | No |
ClinGen gnomAD |
|
|
CA406736242 rs1302397411 |
428 | L>V | No |
ClinGen TOPMed |
|
|
rs1193393370 CA406736227 |
430 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9557091 rs746906754 |
430 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1193393370 CA406736225 |
430 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9557088 rs745634979 |
431 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA406736218 rs1294117462 |
432 | D>N | No |
ClinGen TOPMed |
|
|
CA9557086 rs756868799 |
433 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9557085 rs375642036 |
435 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1165776811 CA406736200 |
435 | P>T | No |
ClinGen gnomAD |
|
|
rs755588503 CA9557083 |
436 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9557081 rs767900976 |
441 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303689495 CA406736159 |
441 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9557078 rs766883574 |
442 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554071195 CA9557079 |
442 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1374158787 CA406736151 |
443 | G>C | No |
ClinGen gnomAD |
|
|
CA406736141 rs1454985121 |
445 | E>K | No |
ClinGen gnomAD |
|
|
CA406736121 rs1190606303 |
447 | P>L | No |
ClinGen gnomAD |
|
|
CA309370320 rs1021244948 |
447 | P>S | No |
ClinGen gnomAD |
|
|
rs1010214869 CA309370310 |
449 | M>I | No |
ClinGen gnomAD |
|
|
rs199943983 CA309370316 |
449 | M>L | No |
ClinGen 1000Genomes |
|
|
CA9557076 rs773581963 |
449 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA406736101 rs765294037 |
451 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9557075 rs765294037 |
451 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1484684850 CA406736100 |
451 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9557073 rs776828040 |
452 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA406736095 rs1211427799 |
452 | P>S | No |
ClinGen gnomAD |
|
|
CA406736089 rs1225589135 |
453 | S>Y | No |
ClinGen gnomAD |
|
|
CA406736078 rs1353566842 |
455 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA406736075 rs1435832729 |
456 | A>T | No |
ClinGen gnomAD |
|
|
rs1166486461 CA406736064 |
457 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs372021729 CA309370253 |
459 | T>M | No |
ClinGen ESP TOPMed |
|
|
CA406736045 rs1373278598 |
460 | H>Q | No |
ClinGen gnomAD |
|
|
CA406736033 rs1473943836 |
462 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA406736031 rs1473943836 |
462 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs777289532 CA9557067 |
465 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440221171 CA406736009 |
466 | L>P | No |
ClinGen TOPMed |
|
|
rs1370193060 CA406736011 |
466 | L>V | No |
ClinGen TOPMed |
|
|
CA406736003 rs1194995870 |
467 | R>Q | No |
ClinGen gnomAD |
|
|
rs866480157 CA309370219 |
470 | E>D | No |
ClinGen Ensembl |
|
|
rs1258951272 CA406735969 |
472 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA406735963 rs1332792888 |
473 | P>L | No |
ClinGen gnomAD |
|
|
rs1220650494 CA406735966 |
473 | P>S | No |
ClinGen gnomAD |
|
|
CA406735959 rs1301130084 |
474 | G>D | No |
ClinGen TOPMed |
|
|
CA406735936 rs1195442826 |
478 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA309370217 rs867349536 |
480 | G>C | No |
ClinGen Ensembl |
|
|
rs866679477 CA309370212 |
481 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs866679477 CA309370216 |
481 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA406735915 rs1172416469 |
482 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA406735901 rs1459505754 |
483 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1164975118 CA406735886 |
486 | M>L | No |
ClinGen gnomAD |
|
|
rs866286772 CA309370209 |
487 | Y>* | No |
ClinGen Ensembl |
|
|
rs755401951 CA9557063 |
488 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA406735860 rs1599739555 |
489 | D>A | No |
ClinGen Ensembl |
|
|
rs1180911861 CA406735855 |
490 | P>S | No |
ClinGen gnomAD |
|
|
CA309370194 rs908412376 |
491 | R>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 491 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406735849 rs908412376 |
491 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA406735835 rs1251716773 |
493 | G>E | No |
ClinGen TOPMed |
|
|
rs1200808453 CA406735836 |
493 | G>W | No |
ClinGen gnomAD |
|
|
rs1228949634 CA406735821 |
495 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406735809 rs1278301855 |
497 | P>L | No |
ClinGen gnomAD |
|
|
CA406735799 rs1378142222 |
499 | R>T | No |
ClinGen gnomAD |
|
|
rs1333765691 CA406735791 |
500 | P>R | No |
ClinGen gnomAD |
|
|
rs1438315421 CA406735787 |
501 | P>S | No |
ClinGen gnomAD |
|
|
CA406735771 rs1323737518 |
502 | W>* | No |
ClinGen gnomAD |
|
|
CA309370187 rs983493832 |
502 | W>L | No |
ClinGen TOPMed |
|
|
rs1157950255 CA406735718 |
505 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1470457798 CA406735711 |
506 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1470457798 CA406735713 |
506 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1381983963 CA406735689 |
507 | P>L | No |
ClinGen gnomAD |
|
|
CA406735678 rs1191510551 |
508 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1359219025 CA406735648 |
510 | T>R | No |
ClinGen TOPMed |
|
|
CA406735625 rs1452872421 |
511 | P>L | No |
ClinGen gnomAD |
|
|
rs1222502938 CA406735581 |
513 | G>V | No |
ClinGen gnomAD |
|
|
rs1282187506 CA406735547 |
515 | G>D | No |
ClinGen gnomAD |
|
|
CA309370168 rs959424024 |
515 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1213465403 CA406735536 |
516 | W>R | No |
ClinGen TOPMed |
|
|
CA406735514 rs1448193715 |
517 | A>T | No |
ClinGen gnomAD |
|
|
CA406735432 rs1205113282 |
521 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1188307926 CA406735372 |
526 | G>D | No |
ClinGen TOPMed |
|
|
CA406735380 rs1474454451 |
526 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 530 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309370160 rs1033880925 |
530 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406735308 rs1312008934 |
530 | R>S | No |
ClinGen gnomAD |
|
|
CA406735290 rs1326490450 |
531 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1461934032 CA406735239 |
534 | L>P | No |
ClinGen TOPMed |
|
|
rs1319785285 CA406735218 |
535 | A>V | No |
ClinGen TOPMed |
|
|
CA309370150 rs904028186 |
539 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1370738395 CA406735139 |
540 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1009286249 CA309370142 |
541 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1291893029 CA406735107 |
542 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 542 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309370135 rs890885928 |
543 | P>S | No |
ClinGen TOPMed |
|
|
CA406735053 rs758838913 |
546 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9557059 rs758838913 |
546 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406735049 rs1362365549 |
546 | R>P | No |
ClinGen gnomAD |
|
|
CA309370131 rs932292340 |
548 | R>Q | No |
ClinGen TOPMed |
|
|
CA406735026 rs1171618734 |
548 | R>W | No |
ClinGen gnomAD |
|
|
CA406735013 rs1242714771 |
549 | P>Q | No |
ClinGen TOPMed |
|
|
CA406735004 rs1385177139 |
550 | R>C | No |
ClinGen gnomAD |
|
|
rs1472624137 CA406735001 |
550 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1186042518 CA406734995 |
551 | E>K | No |
ClinGen TOPMed |
|
|
rs1419827298 CA406734981 |
552 | E>Q | No |
ClinGen TOPMed |
|
|
rs899531510 CA406734943 |
554 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs899531510 CA309370130 |
554 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs899531510 CA406734942 |
554 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406734939 rs1395414878 |
555 | L>V | No |
ClinGen gnomAD |
|
|
CA406734914 rs1240475785 |
557 | G>D | No |
ClinGen gnomAD |
|
|
rs1479117915 CA406734916 |
557 | G>S | No |
ClinGen gnomAD |
|
|
rs1599739242 CA406734900 |
558 | E>G | No |
ClinGen Ensembl |
|
|
rs1568478436 CA406734907 |
558 | E>K | No |
ClinGen Ensembl |
|
|
CA406734881 CA309370128 rs570771837 |
560 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1314307287 CA406734870 |
561 | R>C | No |
ClinGen TOPMed |
|
|
CA406734858 rs1355644271 |
562 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 564 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762141914 CA9557056 |
566 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1359423686 CA406734782 |
568 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA309370085 rs548070077 |
571 | P>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA406734725 rs1311029579 |
572 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 573 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406734709 CA406734707 rs1359579057 |
574 | G>R | No |
ClinGen gnomAD |
|
|
CA406734711 rs1359579057 |
574 | G>W | No |
ClinGen gnomAD |
|
|
rs1228786660 CA406734686 |
576 | A>T | No |
ClinGen gnomAD |
|
|
CA406734665 rs1177934244 |
577 | T>M | No |
ClinGen gnomAD |
|
|
rs1460903642 CA406734623 |
581 | L>P | No |
ClinGen Ensembl |
|
|
CA406734611 rs1170151510 |
582 | C>Y | No |
ClinGen gnomAD |
|
|
CA406734601 rs1408774763 |
583 | V>M | No |
ClinGen TOPMed |
|
|
CA9557052 rs774281964 |
584 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280672168 CA406734562 |
585 | H>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 587 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309370076 rs1033681418 |
589 | E>Q | No |
ClinGen TOPMed |
|
|
CA9557050 rs762726040 |
593 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406734466 rs1212668157 |
593 | G>S | No |
ClinGen gnomAD |
|
|
rs762726040 CA406734463 |
593 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769301584 CA9557048 |
594 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs904946472 CA309370035 |
594 | H>Y | No |
ClinGen Ensembl |
|
|
CA406734444 rs1218821404 |
595 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9557047 rs747867026 |
600 | G>D | No |
ClinGen ExAC gnomAD |
|
|
VAR_051302 CA9557046 rs2287922 |
601 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs968279691 CA309370021 |
601 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA406734378 rs968279691 |
601 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406734369 rs768296475 |
602 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9557045 rs768296475 |
602 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA406734364 rs1423802858 |
603 | A>T | No |
ClinGen gnomAD |
|
|
rs1415174707 CA406734354 |
603 | A>V | No |
ClinGen gnomAD |
|
|
CA406734351 rs1021052230 |
604 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1237904327 CA406734344 |
604 | R>L | No |
ClinGen gnomAD |
|
|
rs1237904327 CA406734348 |
604 | R>Q | No |
ClinGen gnomAD |
|
|
CA309370019 rs1021052230 |
604 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1198939537 CA406734319 |
606 | I>M | No |
ClinGen gnomAD |
|
|
CA9557042 rs759032090 |
611 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA406734111 rs769654502 |
613 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191973902 CA406734081 |
615 | K>N | No |
ClinGen TOPMed |
|
|
CA309369123 rs918810676 |
619 | D>G | No |
ClinGen Ensembl |
|
|
rs1568477509 CA406734036 |
619 | D>H | No |
ClinGen Ensembl |
|
|
rs1213603850 CA406734025 |
620 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9557029 rs761314944 |
620 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406734012 rs1221276956 |
621 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs897284418 CA309369019 |
628 | G>A | No |
ClinGen TOPMed |
|
|
CA406733666 rs1255174908 |
628 | G>R | No |
ClinGen gnomAD |
|
|
rs764874299 CA9557013 |
629 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA406733660 rs1232861743 |
629 | V>I | No |
ClinGen gnomAD |
|
|
rs371513864 CA9557012 |
631 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776347117 CA9557011 |
633 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1299380531 CA406733635 |
633 | P>S | No |
ClinGen gnomAD |
|
|
rs1466295257 CA406733610 |
637 | E>D | No |
ClinGen gnomAD |
|
|
rs760442322 CA9557009 |
637 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9557008 rs141745994 |
638 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9557007 rs771728440 |
639 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406733601 rs771728440 |
639 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs910870943 CA309368974 |
639 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA406733575 rs1374437951 |
643 | L>Q | No |
ClinGen TOPMed |
|
|
rs370059711 CA9557004 |
644 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406733573 rs774923735 |
644 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA406733549 rs1200814495 |
648 | L>M | No |
ClinGen gnomAD |
|
|
rs1346774321 CA406733523 |
651 | A>G | No |
ClinGen gnomAD |
|
|
CA309368959 rs867531377 |
651 | A>S | No |
ClinGen Ensembl |
|
|
rs1346774321 CA406733522 |
651 | A>V | No |
ClinGen gnomAD |
|
|
CA406733520 rs1601277459 |
652 | N>H | No |
ClinGen Ensembl |
|
|
CA406733516 rs1257993367 |
652 | N>I | No |
ClinGen gnomAD |
|
|
CA9557003 rs749645984 |
654 | T>M | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA406733471 rs1354111072 |
659 | F>S | No |
ClinGen gnomAD |
|
|
rs867243528 CA309368956 |
661 | Q>* | No |
ClinGen Ensembl |
|
|
CA406733454 rs1374733215 |
662 | E>K | No |
ClinGen TOPMed |
|
|
CA9556999 rs781192893 |
663 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9556998 rs755090488 |
664 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406733435 rs755090488 |
664 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406733439 rs1396988516 |
664 | V>M | No |
ClinGen gnomAD |
|
|
rs867375097 CA309368950 |
666 | E>K | No |
ClinGen Ensembl |
|
|
CA406733422 rs1296124331 |
667 | M>V | No |
ClinGen gnomAD |
|
|
rs1423777491 CA406733388 |
671 | A>P | No |
ClinGen gnomAD |
|
|
CA9556996 rs765206379 |
673 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 674 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309368784 rs572603055 |
676 | P>L | No |
ClinGen Ensembl |
|
|
rs1239034083 CA406733312 |
680 | N>H | No |
ClinGen gnomAD |
|
|
CA406733296 rs1449971275 |
682 | L>V | No |
ClinGen gnomAD |
|
|
rs1289203484 CA406733261 |
686 | D>E | No |
ClinGen gnomAD |
|
|
rs377327742 CA309368780 |
687 | E>K | No |
ClinGen ESP TOPMed |
|
|
CA9556976 rs777649754 |
688 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs755975413 CA9556975 |
689 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs189712936 CA9556974 |
691 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1359979013 CA406733230 |
691 | L>P | No |
ClinGen gnomAD |
|
|
rs1332112038 CA406733216 |
693 | D>E | No |
ClinGen TOPMed |
|
|
CA9556973 rs767180938 |
694 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA9556971 rs751044799 |
697 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA406733183 rs1231300769 |
698 | C>S | No |
ClinGen TOPMed |
|
|
CA406733184 rs1231300769 |
698 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs373005630 CA309368759 |
701 | Q>R | No |
ClinGen ESP TOPMed |
|
|
CA9556958 rs756174903 |
710 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 712 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs890386231 CA309367698 |
713 | S>T | No |
ClinGen Ensembl |
|
|
rs754613166 CA9556955 |
714 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9556956 rs754613166 |
714 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406732583 rs1274398732 |
716 | P>S | No |
ClinGen gnomAD |
|
|
CA309367670 rs370144366 |
720 | D>G | No |
ClinGen ESP TOPMed |
|
|
rs1601274947 CA406732441 |
724 | F>C | No |
ClinGen Ensembl |
|
|
CA9556953 rs375784788 |
725 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375784788 CA9556952 |
725 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309367653 rs899828449 |
727 | G>C | No |
ClinGen Ensembl |
|
|
rs936229937 CA309367652 |
727 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs924873195 CA309367651 |
728 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs531483937 CA9556951 |
728 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs765712432 CA9556950 |
731 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777014384 CA9556948 |
732 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1261067002 CA406732297 |
733 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9556946 rs202046985 |
735 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1265887441 CA406732268 |
735 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1442150156 CA406732222 |
738 | G>E | No |
ClinGen gnomAD |
|
|
rs745926016 CA9556943 |
739 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9556942 rs774618405 |
739 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA406732187 rs1276995498 |
740 | M>I | No |
ClinGen gnomAD |
|
|
rs751311940 CA9556941 |
740 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1346244034 CA406732195 |
740 | M>V | No |
ClinGen TOPMed |
|
|
CA406732183 rs748122600 |
741 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748122600 CA9556940 |
741 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300941564 CA406732173 |
742 | P>L | No |
ClinGen gnomAD |
|
|
rs950166393 CA309367600 |
743 | G>A | No |
ClinGen gnomAD |
|
|
rs201454840 CA9556938 |
743 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373380374 CA9556936 |
745 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309367576 rs917532114 |
746 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9556935 rs758096963 |
747 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1370139212 CA406732135 |
749 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs764758039 CA9556933 |
750 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406732130 rs764758039 |
750 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422291700 CA406732134 |
750 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1225192663 CA406732126 |
751 | F>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 753 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9556932 rs376943064 |
753 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9556931 rs754313593 |
754 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 756 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406732086 rs1211861285 |
757 | L>P | No |
ClinGen gnomAD |
|
|
rs764449110 CA9556930 |
758 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs868287322 CA309367544 |
759 | S>N | No |
ClinGen Ensembl |
|
|
rs937039834 CA309367538 |
759 | S>R | No |
ClinGen Ensembl |
|
|
rs760940466 CA9556929 |
761 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs773187933 COSM3422983 CA9556927 COSM3422982 |
762 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA309367534 rs773187933 |
762 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309367506 rs973441996 |
765 | P>R | No |
ClinGen Ensembl |
|
|
rs1398387030 CA406732025 |
767 | L>I | No |
ClinGen gnomAD |
|
|
rs1466231571 CA406732019 |
768 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 769 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776430624 CA9556922 |
772 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1469708209 CA406731967 |
775 | L>F | No |
ClinGen TOPMed |
|
|
CA9556918 rs758005264 |
781 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1408422404 CA406731908 |
784 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 786 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309367445 rs534906467 |
786 | S>L | No |
ClinGen 1000Genomes |
|
|
rs1178812793 CA406731895 |
786 | S>P | No |
ClinGen gnomAD |
|
|
rs753452522 CA9556914 |
789 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756762672 CA406731873 |
789 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9556915 rs756762672 |
789 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9556913 rs764492529 |
790 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA309367221 rs201080880 |
792 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs749820608 CA9556895 |
794 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9556894 rs748722881 |
795 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371894454 CA9556892 |
800 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9556890 rs781639191 |
801 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs781639191 CA9556891 |
801 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA309367184 rs920345208 |
801 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9556888 rs752029089 |
803 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs141461244 CA9556885 |
805 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA9556884 COSM1223237 rs765379837 COSM1223236 |
806 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs760469367 CA9556883 |
811 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9556882 rs146642647 |
812 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs146642647 CA9556881 |
812 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9556880 rs759308932 |
813 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1289200958 CA406731536 |
814 | D>N | No |
ClinGen gnomAD |
|
|
rs1356812727 CA406731400 |
819 | A>P | No |
ClinGen TOPMed |
|
|
rs1324415856 CA406731349 |
822 | G>A | No |
ClinGen gnomAD |
|
|
CA406731337 COSM1681186 COSM1681187 rs1217394893 |
823 | D>N | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1294367551 CA406731309 |
824 | I>T | No |
ClinGen TOPMed |
|
|
CA406731230 rs1601273166 |
828 | F>V | No |
ClinGen Ensembl |
|
|
CA9556876 rs777092955 |
830 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9556877 rs748997870 |
830 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 834 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 837 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9556875 rs769353933 |
838 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1291762819 CA406730986 |
840 | C>Y | No |
ClinGen gnomAD |
|
|
CA9556873 rs144734317 |
843 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA309367048 rs367666886 |
843 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA406730892 rs1166298359 |
844 | T>A | No |
ClinGen gnomAD |
|
|
rs530618256 CA309365369 |
850 | S>L | No |
ClinGen Ensembl |
|
|
CA9556852 rs758792776 |
852 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs746284522 CA9556851 |
853 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202163693 CA9556849 |
858 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1187061934 CA406729269 |
860 | T>I | No |
ClinGen TOPMed |
|
|
CA309365351 rs952846515 |
860 | T>P | No |
ClinGen Ensembl |
|
|
rs1445541422 CA406729257 |
862 | T>N | No |
ClinGen gnomAD |
|
|
rs1028468638 CA309365343 |
862 | T>P | No |
ClinGen Ensembl |
|
|
rs375271966 CA9556847 |
863 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309365307 rs374430911 |
864 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374430911 CA9556846 COSM295183 |
864 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA406729243 rs1389926002 |
865 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs368997285 CA9556845 |
866 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766296646 CA9556844 |
867 | H>P | No |
ClinGen ExAC |
|
|
rs557153628 CA9556842 |
868 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA9556841 rs764913382 |
869 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9556840 rs761589408 |
870 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs373918009 CA406729176 |
872 | H>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9556839 rs373918009 |
872 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768292820 CA9556838 |
874 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309365218 rs929427453 |
876 | G>D | No |
ClinGen TOPMed |
|
|
CA406729130 rs1362088597 |
876 | G>R | No |
ClinGen gnomAD |
|
|
CA9556837 rs747451987 |
877 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239053419 CA406729098 |
879 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9556836 rs369508351 |
879 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs746217873 CA9556834 CA406729085 |
880 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554401836 CA9556832 |
881 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779181019 CA9556833 |
881 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs777766602 CA9556830 |
883 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9556831 rs199990847 |
883 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA309365122 rs980100050 |
884 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1160465696 CA406729028 |
884 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs914108977 CA309365118 |
886 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA406728988 rs1477098728 |
886 | D>E | No |
ClinGen gnomAD |
|
|
CA309365120 rs946865130 |
886 | D>N | No |
ClinGen TOPMed |
|
|
CA9556827 rs780021868 |
888 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 889 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750193414 CA9556825 |
889 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406728923 rs1387238292 |
891 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9556824 rs764966014 |
892 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs764966014 CA406728909 |
892 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs753543366 CA9556822 |
893 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs761501340 CA9556823 |
893 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9556820 rs556625969 |
895 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9556821 rs763904617 |
895 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309364384 rs956672159 |
898 | G>A | No |
ClinGen Ensembl |
|
|
CA9556797 rs375759268 |
899 | D>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA406728006 rs1446175729 |
899 | D>Y | No |
ClinGen gnomAD |
|
|
CA9556795 rs766956155 |
900 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766956155 CA406727980 |
900 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9556796 rs372040193 |
900 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9556792 rs771489719 |
902 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA9556793 rs774718182 |
902 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA309364356 rs927128636 |
906 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs927128636 CA406727839 |
906 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1601263199 CA406727812 |
907 | H>P | No |
ClinGen Ensembl |
|
|
rs763285790 CA9556791 |
908 | P>L | No |
ClinGen ExAC |
|
|
rs377403982 CA9556789 |
911 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1180488472 CA406727725 |
911 | I>V | No |
ClinGen gnomAD |
|
|
CA406727652 rs1456098881 |
914 | L>M | No |
ClinGen gnomAD |
|
|
rs1456098881 CA406727648 |
914 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 914 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205204167 CA406727619 |
915 | G>E | No |
ClinGen gnomAD |
|
|
rs1287559833 CA406727607 |
916 | S>G | No |
ClinGen gnomAD |
|
|
rs757308590 CA9556783 |
916 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1359821980 CA406727582 |
917 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs749060514 CA9556782 |
921 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA406727493 rs1012388642 |
923 | G>C | No |
ClinGen gnomAD |
|
|
CA309364321 rs1012388642 |
923 | G>S | No |
ClinGen gnomAD |
|
|
CA406727466 rs1297679894 |
924 | P>L | No |
ClinGen gnomAD |
|
|
rs1022765772 CA309364297 |
926 | T>A | No |
ClinGen TOPMed |
|
|
CA9556779 rs752303192 |
926 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs766982541 CA9556778 COSM1712566 COSM1712565 |
927 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA406727395 rs1601262950 |
928 | D>E | No |
ClinGen Ensembl |
|
|
rs142588540 CA9556777 |
928 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406727410 rs1424463380 |
928 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs751121993 CA9556776 |
929 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406727390 rs751121993 |
929 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406727369 COSM1395102 COSM1395103 rs1437418216 |
929 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9556774 CA9556775 rs763487005 |
930 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9556773 rs773516310 |
931 | H>Q | No |
ClinGen ExAC |
|
|
rs1031037200 CA309364280 |
932 | R>S | No |
ClinGen TOPMed |
|
|
rs765600142 CA309364272 |
934 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9556772 rs765600142 |
934 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs762029834 CA9556771 |
935 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs139549287 CA9556770 |
936 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747036652 CA9556768 |
938 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406727244 rs1453551451 |
939 | R>C | No |
ClinGen TOPMed |
|
|
CA9556766 rs770947821 |
941 | L>F | No |
ClinGen ExAC |
|
|
rs1171733728 CA406727198 |
942 | W>* | No |
ClinGen TOPMed |
|
|
rs1018540680 CA309364230 |
943 | D>G | No |
ClinGen TOPMed |
|
|
rs34800326 CA9556765 |
943 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406727125 rs1375574160 |
946 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406727126 rs1375574160 |
946 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs142687046 CA9556764 |
947 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140266474 CA9556763 |
948 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200381072 CA309364215 |
949 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA9556761 rs748036865 |
950 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1050036434 CA309364196 |
951 | A>T | No |
ClinGen Ensembl |
|
|
rs780688660 CA9556759 |
952 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs754703168 CA9556758 |
953 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs751033965 CA9556757 |
954 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA406727069 rs1444855175 |
955 | H>Q | No |
ClinGen Ensembl |
|
|
CA9556756 rs765896978 |
955 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs758844968 CA9556755 |
957 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA406727060 rs1490492768 |
957 | P>S | No |
ClinGen gnomAD |
|
|
rs765840544 CA9556753 |
958 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs947188410 CA309364151 |
958 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs762069060 CA406727043 |
960 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762069060 CA9556752 |
960 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs562473241 CA9556750 |
961 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406727040 rs1223512677 |
961 | T>M | No |
ClinGen gnomAD |
|
|
rs562473241 CA9556748 |
961 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562473241 CA9556749 |
961 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406727028 rs1346701183 |
963 | P>L | No |
ClinGen gnomAD |
No associated diseases with Q5U651
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| Golgi stack | The set of thin, flattened membrane-bounded compartments, called cisternae, that form the central portion of the Golgi complex. The stack usually comprises cis, medial, and trans cisternae; the cis- and trans-Golgi networks are not considered part of the stack. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase binding | Binding to a GTPase, any enzyme that catalyzes the hydrolysis of GTP. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
| branching morphogenesis of an epithelial tube | The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. |
| negative regulation of autophagy | Any process that stops, prevents, or reduces the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| negative regulation of membrane permeability | Any process that stops, prevents or reduces the frequency, rate or extent of the passage or uptake of molecules by a membrane. |
| negative regulation of Rho protein signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of Rho protein signal transduction. |
| negative regulation of Rho-dependent protein serine/threonine kinase activity | Any process that stops, prevents or reduces the frequency, rate or extent of Rho-dependent protein serine/threonine kinase activity. |
| positive regulation of integrin activation | Any process that activates or increases the frequency, rate, or extent of integrin activation. |
| regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| vasculogenesis | The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q27991 | MYH10 | Myosin-10 | Bos taurus (Bovine) | SS |
| Q02440 | MYO5A | Unconventional myosin-Va | Gallus gallus (Chicken) | SS |
| B0I1T2 | MYO1G | Unconventional myosin-Ig | Homo sapiens (Human) | PR |
| Q9NQX4 | MYO5C | Unconventional myosin-Vc | Homo sapiens (Human) | SS |
| Q9ULV0 | MYO5B | Unconventional myosin-Vb | Homo sapiens (Human) | SS |
| P35580 | MYH10 | Myosin-10 | Homo sapiens (Human) | SS |
| Q9Y4I1 | MYO5A | Unconventional myosin-Va | Homo sapiens (Human) | SS |
| P21271 | Myo5b | Unconventional myosin-Vb | Mus musculus (Mouse) | SS |
| Q61879 | Myh10 | Myosin-10 | Mus musculus (Mouse) | SS |
| Q99104 | Myo5a | Unconventional myosin-Va | Mus musculus (Mouse) | EV |
| Q3U0S6 | Rasip1 | Ras-interacting protein 1 | Mus musculus (Mouse) | PR |
| P70569 | Myo5b | Unconventional myosin-Vb | Rattus norvegicus (Rat) | SS |
| Q9JLT0 | Myh10 | Myosin-10 | Rattus norvegicus (Rat) | SS |
| Q9M2K0 | XI-J | Myosin-16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLSGERKEGG | SPRFGKLHLP | VGLWINSPRK | QLAKLGRRWP | SAASVKSSSS | DTGSRSSEPL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PPPPPHVELR | RVGAVKAAGG | ASGSRAKRIS | QLFRGSGTGT | TGSSGAGGPG | TPGGAQRWAS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EKKLPELAAG | VAPEPPLATR | ATAPPGVLKI | FGAGLASGAN | YKSVLATARS | TARELVAEAL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ERYGLAGSPG | GGPGESSCVD | AFALCDALGR | PAAAGVGSGE | WRAEHLRVLG | DSERPLLVQE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LWRARPGWAR | RFELRGREEA | RRLEQEAFGA | ADSEGTGAPS | WRPQKNRSRA | ASGGAALASP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GPGTGSGAPA | GSGGKERSEN | LSLRRSVSEL | SLQGRRRRQQ | ERRQQALSMA | PGAADAQIGT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ADPGDFDQLT | QCLIQAPSNR | PYFLLLQGYQ | DAQDFVVYVM | TREQHVFGRG | GNSSGRGGSP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| APYVDTFLNA | PDILPRHCTV | RAGPEHPAMV | RPSRGAPVTH | NGCLLLREAE | LHPGDLLGLG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EHFLFMYKDP | RTGGSGPARP | PWLPARPGAT | PPGPGWAFSC | RLCGRGLQER | GEALAAYLDG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| REPVLRFRPR | EEEALLGEIV | RAAAAGSGDL | PPLGPATLLA | LCVQHSAREL | ELGHLPRLLG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RLARLIKEAV | WEKIKEIGDR | QPENHPEGVP | EVPLTPEAVS | VELRPLMLWM | ANTTELLSFV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QEKVLEMEKE | ADQEDPQLCN | DLELCDEAMA | LLDEVIMCTF | QQSVYYLTKT | LYSTLPALLD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SNPFTAGAEL | PGPGAELGAM | PPGLRPTLGV | FQAALELTSQ | CELHPDLVSQ | TFGYLFFFSN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ASLLNSLMER | GQGRPFYQWS | RAVQIRTNLD | LVLDWLQGAG | LGDIATEFFR | KLSMAVNLLC |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VPRTSLLKAS | WSSLRTDHPT | LTPAQLHHLL | SHYQLGPGRG | PPAAWDPPPA | EREAVDTGDI |
| 910 | 920 | 930 | 940 | 950 | 960 |
| FESFSSHPPL | ILPLGSSRLR | LTGPVTDDAL | HRELRRLRRL | LWDLEQQELP | ANYRHGPPVA |
| TSP |