Q86U86
Gene name |
PBRM1 (BAF180, PB1) |
Protein name |
Protein polybromo-1 |
Names |
hPB1, BRG1-associated factor 180, BAF180, Polybromo-1D |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55193 |
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
31 structures for Q86U86
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2KTB | NMR | - | B | 174-293 | PDB |
| 3G0J | X-ray | 178 A | A/B | 645-766 | PDB |
| 3HMF | X-ray | 163 A | A | 178-291 | PDB |
| 3IU5 | X-ray | 163 A | A | 43-154 | PDB |
| 3IU6 | X-ray | 179 A | A | 773-914 | PDB |
| 3K2J | X-ray | 220 A | A/B | 388-494 | PDB |
| 3LJW | X-ray | 150 A | A/B | 174-293 | PDB |
| 3MB4 | X-ray | 166 A | A/B | 645-766 | PDB |
| 3TLP | X-ray | 213 A | A/B | 496-637 | PDB |
| 4Q0N | X-ray | 178 A | A/B/C/D/E/F/G/H | 645-766 | PDB |
| 4Q0O | X-ray | 183 A | A | 645-766 | PDB |
| 4Y03 | X-ray | 194 A | A/B | 645-766 | PDB |
| 5E7D | X-ray | 187 A | A/B/C/D | 645-766 | PDB |
| 5FH6 | X-ray | 230 A | A/B/C/D | 645-766 | PDB |
| 5FH7 | X-ray | 147 A | A/B | 645-766 | PDB |
| 5FH8 | X-ray | 155 A | A/B/C/D | 645-766 | PDB |
| 5HRV | X-ray | 170 A | A | 645-766 | PDB |
| 5HRW | X-ray | 180 A | A/B | 645-766 | PDB |
| 5HRX | X-ray | 173 A | A/B | 645-766 | PDB |
| 5II1 | X-ray | 202 A | A/B | 645-766 | PDB |
| 5II2 | X-ray | 210 A | A/B | 645-766 | PDB |
| 5IID | X-ray | 240 A | A/B | 645-766 | PDB |
| 6OXB | X-ray | 186 A | A/B/C/D/E/F | 934-1105 | PDB |
| 6ZN6 | X-ray | 202 A | A/B | 178-291 | PDB |
| 6ZNV | X-ray | 114 A | A | 178-291 | PDB |
| 6ZS3 | X-ray | 167 A | A/B | 645-766 | PDB |
| 6ZS4 | X-ray | 200 A | A | 645-766 | PDB |
| 7VDV | EM | 340 A | a | 631-1689 | PDB |
| 7Y8R | EM | 440 A | U | 1-1689 | PDB |
| 8FTA | X-ray | 178 A | A | 178-291 | PDB |
| AF-Q86U86-F1 | Predicted | AlphaFoldDB |
1098 variants for Q86U86
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000203297 rs864321679 |
1333 | D>missing | Clear cell carcinoma of kidney [ClinVar] | Yes |
ClinVar dbSNP |
|
CA353125288 rs1289736713 |
5 | R>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 6 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 7 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1169692229 CA353125154 |
8 | A>T | No |
ClinGen TOPMed |
|
|
rs757435999 CA2444923 |
14 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 15 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764436452 CA2444921 |
17 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA353124706 rs1430148210 |
18 | D>G | No |
ClinGen gnomAD |
|
|
CA353124651 rs1419786453 |
21 | D>V | No |
ClinGen gnomAD |
|
|
CA2444920 rs762937964 |
22 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2444919 rs775590005 |
24 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA353124547 rs1462165446 |
26 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs776368520 CA2444916 |
27 | S>L | No |
ClinGen ExAC |
|
|
rs1162990450 CA353124459 |
29 | P>L | No |
ClinGen Ensembl |
|
|
rs1296667861 CA353124464 |
29 | P>S | No |
ClinGen TOPMed |
|
|
rs1362922218 CA353124394 |
32 | S>I | No |
ClinGen TOPMed |
|
|
CA353124387 COSM191333 rs1309671151 |
32 | S>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1296531217 CA353124383 |
33 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1353693878 CA353124243 |
36 | R>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 38 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs529388126 CA2444913 |
40 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1317265743 CA353124129 |
41 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1453215498 CA353124110 |
41 | L>R | No |
ClinGen gnomAD |
|
|
CA353124096 rs1219845160 |
42 | P>S | No |
ClinGen gnomAD |
|
|
rs771820105 CA2444912 |
43 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1578377767 CA353124056 |
44 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 44 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747627905 CA2444911 |
44 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1247840974 CA353123982 |
46 | P>L | No |
ClinGen TOPMed |
|
|
CA74775522 rs866121544 |
48 | A>V | No |
ClinGen gnomAD |
|
| VAR_064653 | 49 | V>L | found in a lung cancer cell line [UniProt] | No | UniProt |
|
rs542945393 CA2444890 |
49 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 50 | C>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748868709 CA2444889 |
50 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA353123055 rs934149529 |
52 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA353123045 rs1223568786 |
53 | L>I | No |
ClinGen gnomAD |
|
|
CA353123034 rs1353015727 |
53 | L>R | No |
ClinGen gnomAD |
|
|
CA74775515 VAR_064654 rs923060956 |
56 | T>A | found in a brain cancer cell line [UniProt] | No |
ClinGen UniProt TOPMed dbSNP |
|
CA353122958 rs923060956 |
56 | T>P | No |
ClinGen TOPMed |
|
| VAR_064655 | 57 | I>del | found in a case of clear cell renal carcinoma; somatic mutation [UniProt] | No | UniProt |
|
rs1402616012 CA353122896 |
58 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 59 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353122840 rs1241024217 |
60 | Y>C | No |
ClinGen gnomAD |
|
|
rs373517762 CA2444888 |
61 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2444887 rs771509389 |
64 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs368888772 CA2444886 VAR_064656 |
66 | R>G | found in a colon cancer cell line [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs758577145 CA2444884 |
67 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 69 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399041381 CA353122590 |
71 | L>P | No |
ClinGen gnomAD |
|
|
CA353122557 rs1382054424 |
73 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 74 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755035966 CA2444881 |
78 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2444882 rs755035966 |
78 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353119979 rs1195663483 |
80 | N>S | No |
ClinGen gnomAD |
|
|
rs1201615673 CA542913929 |
84 | Y>* | No |
ClinGen gnomAD |
|
|
rs1242639227 CA353119917 |
84 | Y>N | No |
ClinGen gnomAD |
|
|
CA353119885 rs1263745037 |
86 | E>K | No |
ClinGen gnomAD |
|
|
CA2444863 rs779102269 |
89 | S>Y | No |
ClinGen ExAC gnomAD |
|
| VAR_064657 | 90 | Q>E | found in a bladder cancer cell line [UniProt] | No | UniProt |
|
CA353119772 rs1372633093 |
95 | M>I | No |
ClinGen TOPMed |
|
|
CA74769108 rs74646140 |
98 | Q>K | No |
ClinGen Ensembl |
|
|
rs1227735355 CA353119682 |
100 | K>R | No |
ClinGen gnomAD |
|
|
rs1451023142 CA353119543 |
111 | L>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 112 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867702624 CA74769089 |
114 | A>D | No |
ClinGen Ensembl |
|
| TCGA novel | 115 | D>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353119432 rs1469677552 |
116 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 116 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 120 | F>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353119351 rs1468575151 |
121 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 122 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 126 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444857 rs767623683 |
127 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA2444858 rs750391682 |
127 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2444836 rs746006175 |
130 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2444834 rs757308937 |
132 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2444835 rs139891456 |
132 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 134 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 134 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 136 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA161386 rs587778592 RCV000121777 |
137 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 142 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345333291 CA353116191 |
143 | L>S | No |
ClinGen gnomAD |
|
| VAR_064658 | 144 | Y>F | found in a malignant melanoma cell line [UniProt] | No | UniProt |
|
CA2444831 rs757924256 |
146 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2444829 rs764853847 |
151 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2444828 rs759080524 |
152 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA353115950 rs1355959617 |
155 | G>R | No |
ClinGen TOPMed |
|
|
rs762326260 CA2444825 |
159 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_064659 | 160 | E>A | found in a malignant melanoma cell line [UniProt] | No | UniProt |
|
rs1327678669 CA353115828 |
160 | E>G | No |
ClinGen TOPMed |
|
|
CA2444824 rs774655494 |
160 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA353115814 rs1426978823 |
161 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2444823 rs769010138 |
161 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763287444 CA2444822 |
163 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA353115764 rs1213027214 |
164 | E>G | No |
ClinGen gnomAD |
|
|
CA2444821 rs775778967 |
164 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs745942186 CA2444818 |
166 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2444817 rs781444225 |
166 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 167 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA74766472 rs920146921 |
168 | D>E | No |
ClinGen TOPMed |
|
|
rs1281777672 CA353115713 |
168 | D>N | No |
ClinGen gnomAD |
|
|
rs144003080 CA2444816 |
169 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2444815 rs746949395 |
171 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA2444813 rs758198630 |
171 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2444814 rs758198630 |
171 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 172 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353115614 rs1261727399 |
175 | E>K | No |
ClinGen TOPMed |
|
|
CA2444812 rs752499912 |
176 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA353115601 rs1560914802 |
176 | G>R | No |
ClinGen Ensembl |
|
|
CA353142924 rs1182431123 |
178 | S>F | No |
ClinGen gnomAD |
|
|
CA2444792 rs754615251 |
179 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs754615251 CA2444791 |
179 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs779478603 CA2444789 |
181 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
CA353142777 rs1239653223 |
184 | E>G | No |
ClinGen gnomAD |
|
|
CA353142762 rs1185988525 |
185 | I>V | No |
ClinGen gnomAD |
|
|
rs542464402 CA2444786 |
187 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 188 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353142561 rs1275698120 |
192 | A>G | No |
ClinGen gnomAD |
|
|
CA2444785 rs763396689 |
193 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2444784 rs376949564 |
194 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376949564 CA74791735 |
194 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA353142459 rs1317016863 |
196 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA74791730 rs1011877149 |
198 | N>H | No |
ClinGen Ensembl |
|
|
rs1396571484 CA353142404 |
198 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
VAR_064660 rs765525545 CA2444783 |
202 | R>C | Variant assessed as Somatic; 0.0 impact. found in a endometrial cancer cell line [NCI-TCGA, UniProt] | No |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs759776302 CA353142315 |
202 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs759776302 CA2444782 |
202 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA2444779 rs760805870 |
204 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs938439524 CA74791681 |
205 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2444778 rs773213985 |
205 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1027804016 CA74791680 |
206 | E>A | No |
ClinGen TOPMed |
|
|
VAR_064661 CA353142269 rs1359676390 |
206 | E>K | Variant assessed as Somatic; impact. found in hematopoietic and lymphoid cancer cell lines [NCI-TCGA, UniProt] | No |
ClinGen UniProt NCI-TCGA dbSNP gnomAD |
|
CA353142250 rs1207845767 |
207 | L>I | No |
ClinGen TOPMed |
|
| TCGA novel | 209 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560868667 CA353142193 |
210 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 212 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768346787 CA2444774 |
215 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353139731 rs1452505370 |
221 | Y>H | No |
ClinGen gnomAD |
|
|
CA2444761 rs761000540 |
222 | A>V | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 223 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_064662 | 226 | E>G | found in hematopoietic and lymphoid cancer cell lines [UniProt] | No | UniProt |
|
CA353139534 rs1405242902 |
227 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 227 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM2854207 rs201022657 COSM2854209 CA2444760 COSM2854208 VAR_064663 |
228 | I>V | skin found in a breast cancer cell line [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2444759 rs767495974 |
229 | D>N | No |
ClinGen ExAC gnomAD |
|
| VAR_064664 | 232 | T>P | found in a case of clear cell renal carcinoma; somatic mutation [UniProt] | No | UniProt |
| VAR_064665 | 233 | I>T | found in a renal carcinoma cell line [UniProt] | No | UniProt |
|
rs374259925 CA74788563 |
233 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA2444758 rs761749676 |
234 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2444757 rs559073890 |
236 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353137827 rs1226275680 |
239 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2444738 rs762910140 |
241 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA353137681 rs1315030011 |
243 | K>E | No |
ClinGen gnomAD |
|
|
CA2444737 rs775203392 |
243 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA74787081 rs930104150 |
245 | I>V | No |
ClinGen TOPMed |
|
|
RCV000121778 CA161388 rs587778593 |
246 | H>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA353137551 rs1560759017 |
246 | H>R | No |
ClinGen Ensembl |
|
|
CA353137530 rs1577530035 |
247 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 248 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353137377 rs1171540806 |
249 | A>V | No |
ClinGen TOPMed |
|
|
CA353137351 rs1366553381 |
250 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM1663346 rs1468547899 CA353137266 COSM1663347 COSM1663348 |
252 | I>T | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1336699347 CA353137269 |
252 | I>V | No |
ClinGen gnomAD |
|
|
VAR_064666 rs776146971 CA2444735 |
256 | A>T | Variant assessed as Somatic; 4.622e-05 impact. found in an ovary carcinoma cell line [NCI-TCGA, UniProt] | No |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| TCGA novel | 258 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 262 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 262 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353136782 rs1190586070 |
264 | E>G | No |
ClinGen gnomAD |
|
|
CA74787066 rs963262810 |
268 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 271 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353135270 rs1473745423 |
272 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 273 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353135051 rs1560714275 |
278 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA353135029 rs1185098475 |
279 | I>K | No |
ClinGen gnomAD |
|
| TCGA novel | 279 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185098475 CA353135022 |
279 | I>T | No |
ClinGen gnomAD |
|
|
rs369874660 CA2444710 |
279 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs771618422 | 279 | I>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444708 rs772781719 COSM1663344 COSM1663343 COSM1663345 |
281 | Y>F | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA353134878 rs1456829704 |
283 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 283 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353134859 rs1205460631 |
284 | K>Q | No |
ClinGen gnomAD |
|
|
CA353134827 rs1165577622 |
285 | A>V | No |
ClinGen TOPMed |
|
|
CA353134823 rs1490033079 |
286 | E>K | No |
ClinGen gnomAD |
|
|
CA353134782 rs1288968634 |
287 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs370211100 CA2444706 |
288 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780700287 CA2444705 |
289 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 291 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs558495798 CA74785620 |
291 | E>K | No |
ClinGen 1000Genomes |
|
| TCGA novel | 292 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770383330 CA2444704 |
293 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs995859396 CA74785617 |
296 | S>T | No |
ClinGen gnomAD |
|
|
CA74785614 rs185448951 |
298 | R>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
CA353134313 rs1310042762 |
299 | M>I | No |
ClinGen gnomAD |
|
|
rs1321002922 CA353133714 |
304 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1456923730 CA353133686 |
306 | A>G | No |
ClinGen TOPMed |
|
|
rs1271218463 CA353133634 |
308 | A>D | No |
ClinGen gnomAD |
|
|
rs1463926262 CA353133646 |
308 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2444686 rs774022977 |
309 | R>K | No |
ClinGen ExAC |
|
|
CA353133568 rs1560695240 |
311 | T>A | No |
ClinGen Ensembl |
|
|
CA353133545 rs1346930110 |
311 | T>R | No |
ClinGen TOPMed |
|
|
CA2444685 rs770161934 |
312 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2444684 rs746391738 |
313 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs746633005 CA74784974 |
315 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1342451247 CA353133421 |
315 | H>Y | No |
ClinGen gnomAD |
|
|
CA353133356 rs1276712891 |
317 | K>E | No |
ClinGen gnomAD |
|
|
CA74784970 rs959810153 |
318 | G>D | No |
ClinGen Ensembl |
|
|
rs1360187985 CA353133141 |
324 | R>I | No |
ClinGen gnomAD |
|
|
CA353133101 rs1577385768 |
325 | N>H | No |
ClinGen Ensembl |
|
| TCGA novel | 325 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1577385704 CA353133044 |
326 | P>L | No |
ClinGen Ensembl |
|
|
rs1295615404 CA353133001 |
328 | S>N | No |
ClinGen gnomAD |
|
|
rs1458757274 CA353132980 |
329 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1284306673 CA353132929 |
330 | Y>H | No |
ClinGen TOPMed |
|
|
rs747444363 CA2444681 |
331 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs374515597 CA2444679 |
332 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353132887 rs374515597 |
332 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2444678 rs748174546 |
332 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 333 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA161376 RCV000121772 rs547790173 |
333 | N>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA353132018 rs1560675648 |
333 | N>Y | No |
ClinGen Ensembl |
|
|
rs1245408239 CA353131807 |
339 | G>E | No |
ClinGen gnomAD |
|
|
VAR_064667 rs200106731 CA2444636 |
340 | G>A | found in a malignant melanoma cell line [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA353131781 rs200106731 |
340 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2444637 rs751210666 |
340 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74784251 rs764156634 |
341 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs373247018 CA2444635 |
341 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766863761 CA2444633 |
344 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301977768 CA353131530 |
345 | I>T | No |
ClinGen gnomAD |
|
|
rs761199482 CA2444632 |
345 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 347 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353131489 rs1239938907 |
347 | M>V | No |
ClinGen TOPMed |
|
|
CA353131420 rs1455995188 |
348 | A>V | No |
ClinGen gnomAD |
|
|
rs773495785 CA2444631 |
349 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs369012659 CA2444630 |
350 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774627745 CA2444628 |
351 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
CA353131338 rs1407715900 |
352 | G>V | No |
ClinGen gnomAD |
|
|
rs147057026 CA74784199 |
355 | S>N | No |
ClinGen ESP |
|
|
CA2444626 rs749364981 |
357 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252895125 CA353131170 |
358 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 358 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1487575653 CA353131138 |
359 | A>T | No |
ClinGen gnomAD |
|
|
rs1174970365 CA353131111 |
360 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 360 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267092200 CA353131094 |
361 | L>V | No |
ClinGen gnomAD |
|
|
rs1307761878 CA353128433 |
363 | A>V | No |
ClinGen TOPMed |
|
|
rs147499494 CA2444600 |
365 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2444601 rs147499494 |
365 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2444599 rs757998686 |
365 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 365 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA161378 rs373477703 RCV000121773 |
366 | Y>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2444598 rs778591127 |
366 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs778591127 CA2444597 |
366 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs373477703 CA2444596 |
366 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353128210 rs1246059681 |
374 | E>G | No |
ClinGen gnomAD |
|
|
CA353128156 rs1190464445 |
377 | T>I | No |
ClinGen gnomAD |
|
|
CA353128168 rs1354426625 |
377 | T>P | No |
ClinGen TOPMed |
|
|
CA74779047 rs896608828 |
378 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs767987709 CA2444595 |
381 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 382 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751885636 CA2444593 |
383 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA74779025 rs913417875 |
384 | N>H | No |
ClinGen gnomAD |
|
|
CA353128013 rs1176334509 |
385 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs764381947 CA2444592 |
386 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 387 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866423710 CA74779015 |
388 | Q>H | No |
ClinGen Ensembl |
|
|
CA74779009 rs935520845 |
389 | L>I | No |
ClinGen TOPMed |
|
|
CA2444591 rs763433177 |
390 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs775851420 CA2444590 |
392 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA353127825 rs1440257006 |
396 | C>Y | No |
ClinGen TOPMed |
|
|
CA2444588 rs759670972 |
397 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394725381 CA353127813 |
397 | R>W | No |
ClinGen gnomAD |
|
|
CA2444586 rs770955783 |
398 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs746922143 CA2444585 |
400 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2444583 rs140652006 |
406 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353127666 rs1449987855 |
406 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA353127651 rs748039131 |
407 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353127621 rs778505553 |
407 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2444581 rs778505553 |
407 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs748039131 CA74778926 |
407 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748039131 CA2444582 |
407 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 409 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1256365201 CA353127569 |
410 | H>R | No |
ClinGen gnomAD |
|
|
rs1194904129 CA353127534 |
412 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 417 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444578 rs779570305 |
417 | Y>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 417 | Y>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343496358 CA353127346 |
419 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1343496358 CA353127348 |
419 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2444577 rs757726623 |
422 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1243048171 CA353127233 |
423 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 425 | K>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353127185 rs1314419859 |
426 | M>T | No |
ClinGen TOPMed |
|
|
rs1266329257 CA353127130 |
428 | I>M | No |
ClinGen TOPMed |
|
|
CA2444575 rs764729828 |
428 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 429 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458130128 CA353127068 |
431 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1389898698 CA353127014 |
434 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA353125267 rs1244486563 |
435 | T>K | No |
ClinGen gnomAD |
|
|
CA353125028 rs1208471505 |
441 | E>A | No |
ClinGen gnomAD |
|
|
rs745423588 CA2444557 |
444 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA353124829 rs1270204507 |
445 | L>S | No |
ClinGen gnomAD |
|
|
COSM1291746 CA2444556 COSM1291747 COSM1291745 rs778123731 |
446 | D>G | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA353124746 rs1560516560 |
447 | H>Q | No |
ClinGen Ensembl |
|
|
CA353124774 rs1474605653 |
447 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 448 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353124713 rs758971781 |
449 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs758971781 CA2444555 |
449 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA353124716 rs1188691461 |
449 | E>Q | No |
ClinGen TOPMed |
|
|
rs753073607 CA2444554 |
450 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74775289 rs113443596 |
456 | F>L | No |
ClinGen Ensembl |
|
|
CA353124410 rs1438786040 |
460 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM3427748 COSM3427746 rs779427834 CA2444553 COSM3427747 |
461 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2444552 rs755190183 |
461 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA2444551 rs754097433 |
463 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 464 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444550 rs766686111 |
465 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA74775273 rs1048538214 |
468 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 469 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353124075 rs1413539193 |
469 | I>T | No |
ClinGen gnomAD |
|
|
CA2444547 rs781546758 |
470 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2444546 rs375222169 |
471 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2444545 rs567250482 |
472 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353123943 rs567250482 |
472 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2444544 rs768428845 |
473 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs774975430 CA2444542 |
477 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 479 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745324755 CA2444540 |
479 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348721028 CA353123676 |
480 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 484 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 485 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353123306 rs1302976139 |
486 | E>D | No |
ClinGen gnomAD |
|
|
rs1031229949 CA74774293 |
486 | E>K | No |
ClinGen TOPMed |
|
|
CA353123304 rs1465210090 |
487 | L>F | No |
ClinGen gnomAD |
|
|
CA2444527 rs34704994 |
488 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762715677 CA2444526 |
488 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs145261114 CA2444525 |
489 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs964967913 CA74774252 |
492 | D>N | No |
ClinGen gnomAD |
|
|
rs147488144 CA353123177 |
493 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353123183 rs1376740803 |
493 | I>T | No |
ClinGen gnomAD |
|
|
CA353123150 rs1400672969 |
494 | E>G | No |
ClinGen TOPMed |
|
|
rs371948738 CA2444522 |
494 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs889851563 CA74774232 |
496 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA353123124 rs1305638216 |
496 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 498 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 500 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444518 rs374799219 |
508 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1011750064 CA74774201 |
511 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 514 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353119470 rs1412410494 |
516 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 517 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148299797 CA2444492 |
518 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 521 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 522 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_064668 | 523 | M>I | found in a case of clear cell renal carcinoma; somatic mutation [UniProt] | No | UniProt |
|
CA74768406 rs769288761 |
525 | I>M | No |
ClinGen Ensembl |
|
| TCGA novel | 527 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777837959 CA2444491 |
527 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs201580633 CA2444490 |
528 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1279388550 CA353119139 |
529 | V>D | No |
ClinGen Ensembl |
|
|
rs931547681 CA74768402 |
531 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2444489 rs752670032 |
534 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353118996 rs1384342266 |
540 | R>K | No |
ClinGen gnomAD |
|
| VAR_064669 | 540 | R>S | found in a case of clear cell renal carcinoma; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 546 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 546 | F>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 554 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754768297 CA2444487 |
555 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 558 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 561 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388326171 CA353118641 |
563 | L>W | No |
ClinGen gnomAD |
|
| TCGA novel | 571 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 571 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 572 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1217543982 CA353118455 |
572 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 572 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353118440 rs1428915766 |
573 | H>R | No |
ClinGen gnomAD |
|
|
rs965565832 CA74768390 |
576 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs554214396 CA2444484 |
576 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1633256 CA2444483 COSM1633257 COSM1633258 rs554214396 |
576 | R>L | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs115997236 CA2444482 |
577 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 581 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353118212 rs1283574490 |
581 | A>S | No |
ClinGen TOPMed |
|
|
CA353118175 COSM1186319 COSM1186320 rs1342068320 COSM1186321 |
582 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs770253796 CA2444479 |
584 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA353118066 rs1476792117 |
585 | G>E | No |
ClinGen TOPMed |
|
|
rs191685069 CA2444478 |
585 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353118067 rs1476792117 |
585 | G>V | No |
ClinGen TOPMed |
|
|
COSM446841 COSM446843 CA353118034 COSM446842 rs1192414131 |
586 | M>I | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1394528754 CA353117989 |
588 | E>K | No |
ClinGen gnomAD |
|
|
CA353117857 rs1156645577 |
591 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA353117709 rs1473718435 |
594 | F>L | No |
ClinGen gnomAD |
|
|
rs771077313 CA2444476 |
595 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2444477 rs777012889 |
595 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| VAR_064670 | 597 | A>D | found in a case of clear cell renal carcinoma; somatic mutation [UniProt] | No | UniProt |
|
CA353117650 rs1158451345 |
597 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 598 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1000859863 CA74768360 |
599 | H>R | No |
ClinGen Ensembl |
|
|
CA353116817 rs1471300592 |
611 | A>T | No |
ClinGen gnomAD |
|
|
rs1576783243 CA353116814 |
611 | A>V | No |
ClinGen Ensembl |
|
|
rs773389113 CA2444455 |
613 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2444456 rs138925978 |
613 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 617 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353116609 rs1267343896 |
619 | K>R | No |
ClinGen gnomAD |
|
| VAR_064671 | 621 | K>E | found in a case of clear cell renal carcinoma; somatic mutation [UniProt] | No | UniProt |
|
CA2444453 rs748206914 |
622 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2444452 rs140241012 |
623 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1169377404 CA353116449 |
624 | E>K | No |
ClinGen TOPMed |
|
|
rs1227926175 CA353116245 |
629 | P>L | No |
ClinGen Ensembl |
|
|
CA2444449 rs780198680 |
630 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300222257 CA353116064 |
634 | M>T | No |
ClinGen TOPMed |
|
|
rs755967526 CA2444448 |
634 | M>V | No |
ClinGen ExAC gnomAD |
|
|
COSM480380 rs770885191 COSM480379 CA74767465 |
636 | S>P | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1024011941 CA353115893 |
639 | L>P | No |
ClinGen TOPMed |
|
|
rs1024011941 CA74767460 |
639 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 641 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444446 rs780848542 |
641 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353114215 rs1455942323 |
643 | R>G | No |
ClinGen gnomAD |
|
|
CA353114174 rs1188313069 |
646 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA353114172 rs1188313069 |
646 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA353114119 rs1279606037 |
650 | K>E | No |
ClinGen gnomAD |
|
|
CA2444425 rs199992446 |
652 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278253484 CA353114013 |
655 | M>T | No |
ClinGen gnomAD |
|
|
rs1441864184 CA353114020 |
655 | M>V | No |
ClinGen gnomAD |
|
|
rs1348496356 CA353113956 |
658 | M>I | No |
ClinGen gnomAD |
|
|
rs142078067 CA2444424 |
658 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs925277999 CA74764743 |
660 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 660 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_064672 | 661 | K>N | found in a case of clear cell renal carcinoma; somatic mutation [UniProt] | No | UniProt |
|
CA353113887 rs1412847071 |
663 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 663 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444423 rs752249293 |
663 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353113856 rs1315914230 |
664 | E>G | No |
ClinGen gnomAD |
|
|
CA353113756 rs1270365723 |
669 | V>E | No |
ClinGen gnomAD |
|
|
CA353113743 rs1338379489 |
670 | K>R | No |
ClinGen gnomAD |
|
|
CA2444419 rs767784352 |
671 | N>S | No |
ClinGen ExAC gnomAD |
|
| VAR_064673 | 674 | D>E | found in a case of clear cell renal carcinoma; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 675 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408533735 CA353113551 |
677 | G>S | No |
ClinGen gnomAD |
|
|
VAR_064674 CA353113535 rs1422119249 |
678 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen UniProt NCI-TCGA dbSNP gnomAD |
|
rs1187519621 CA353113531 |
678 | R>H | No |
ClinGen gnomAD |
|
|
rs764416320 CA2444416 |
679 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs763078803 CA2444415 |
679 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 680 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444412 rs745815678 |
683 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA74764676 rs113052475 |
691 | S>P | No |
ClinGen Ensembl |
|
|
CA353113225 rs1227600181 |
692 | E>Q | No |
ClinGen gnomAD |
|
|
rs777272973 CA2444408 |
695 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 697 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 700 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 703 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747614290 CA2444406 |
704 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 706 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA74764664 rs980527559 |
708 | K>R | No |
ClinGen Ensembl |
|
|
CA353112802 rs1274200331 |
710 | R>Q | No |
ClinGen TOPMed |
|
|
CA2444405 rs778396949 |
711 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308843367 CA353112751 |
713 | M>I | No |
ClinGen Ensembl |
|
|
rs1440617183 CA353112694 |
715 | A>T | No |
ClinGen gnomAD |
|
|
rs756552548 CA2444404 |
716 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs569156539 CA2444403 |
716 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA74764659 rs867544536 |
719 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1415875534 CA353112548 |
720 | D>N | No |
ClinGen gnomAD |
|
|
CA2444401 rs757530012 |
721 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs142097913 CA2444402 |
721 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs993596903 CA74764656 |
723 | S>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 728 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764372541 CA2444399 |
730 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233447219 CA353112200 |
731 | M>V | No |
ClinGen gnomAD |
|
|
rs187860752 CA2444398 |
735 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353111929 rs1274619069 |
737 | T>I | No |
ClinGen gnomAD |
|
|
CA353111742 rs1293010915 |
740 | E>D | No |
ClinGen TOPMed |
|
|
rs1489476425 CA353111698 |
741 | P>L | No |
ClinGen TOPMed |
|
|
CA2444394 rs776404492 |
742 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 742 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444392 rs770955246 |
747 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353111413 rs1376146321 |
749 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA353111408 rs1376146321 |
749 | A>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 755 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760334376 CA2444391 |
759 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353111068 rs1328407334 |
760 | R>C | No |
ClinGen gnomAD |
|
|
CA2444389 rs199976998 |
760 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747810053 CA2444388 |
761 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs935166462 CA74764635 |
763 | L>R | No |
ClinGen TOPMed |
|
|
rs1381093905 CA353110955 |
764 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 765 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560329503 CA353110807 |
767 | E>G | No |
ClinGen Ensembl |
|
|
rs768149020 CA2444386 |
769 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs748868964 CA2444385 |
770 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1329110900 CA353110709 |
770 | H>Y | No |
ClinGen TOPMed |
|
|
rs1190579793 CA353110688 |
771 | V>I | No |
ClinGen gnomAD |
|
|
CA2444384 rs781527726 |
772 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1560328862 CA353110652 |
773 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 776 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757814394 CA2444383 |
778 | I>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1309364 COSM1309363 COSM1309365 CA2444382 rs751804410 |
779 | Q>E | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA353110447 rs1464157273 |
781 | L>F | No |
ClinGen gnomAD |
|
|
rs778298271 CA2444381 |
781 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1560328551 CA353110429 |
782 | I>V | No |
ClinGen Ensembl |
|
|
rs752965439 CA2444379 |
784 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353110088 rs1442174568 |
794 | D>G | No |
ClinGen gnomAD |
|
|
CA353109978 rs1384458457 |
798 | R>G | No |
ClinGen gnomAD |
|
|
CA2444374 rs766182437 |
799 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353109902 rs760662449 |
801 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA2444373 rs760662449 |
801 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 802 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353109840 rs1452465002 |
804 | L>S | No |
ClinGen gnomAD |
|
|
CA2444372 rs772930853 |
806 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs771839282 CA2444371 |
808 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194011743 CA353109750 |
808 | P>T | No |
ClinGen gnomAD |
|
|
CA353109728 rs1259143896 |
809 | A>T | No |
ClinGen gnomAD |
|
|
CA74764566 rs1043720625 |
810 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs761661407 CA2444370 |
812 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA2444369 rs773959868 |
813 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768403462 CA353109573 |
813 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2444368 rs768403462 |
813 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768403462 CA74764561 |
813 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748698167 CA2444367 |
814 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA353109506 rs1346329402 |
815 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA353109496 rs1283107190 |
815 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA353109499 rs1283107190 |
815 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA353109508 rs1346329402 |
815 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA353109469 rs1326243655 CA353109466 |
816 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs779620657 CA2444366 |
816 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA74764552 rs994266706 |
816 | N>Y | No |
ClinGen TOPMed |
|
|
CA353109424 rs1293640241 |
818 | P>L | No |
ClinGen gnomAD |
|
|
rs1362965282 CA353109402 |
820 | L>V | No |
ClinGen gnomAD |
|
|
CA2444364 rs771658417 |
821 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353109371 COSM191314 rs771658417 |
821 | T>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA353109365 rs1377130464 |
822 | F>L | No |
ClinGen gnomAD |
|
|
rs758808260 CA2444362 |
824 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 825 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388332299 CA353108449 |
828 | N>K | No |
ClinGen TOPMed |
|
|
CA353108447 rs1195116525 |
829 | V>F | No |
ClinGen gnomAD |
|
|
COSM3427743 COSM3427744 CA2444360 rs146395938 COSM3427745 |
833 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2444359 rs755255835 |
833 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2444357 rs766489990 |
834 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753789544 CA2444358 |
834 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs750354025 CA2444355 |
835 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200522912 CA2444354 |
835 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761573345 CA2444353 |
836 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1424542 COSM1424543 rs1438592568 CA353108327 COSM1424544 |
836 | R>W | kidney large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA74764506 rs183157690 |
837 | L>V | No |
ClinGen 1000Genomes |
|
|
rs1046104853 CA74764502 |
841 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA353108200 rs1412936146 |
842 | E>G | No |
ClinGen gnomAD |
|
|
rs930364741 CA74764500 |
843 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA353108170 rs1313358258 |
844 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs774153419 CA353108125 |
845 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs763587751 CA2444351 |
845 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs774153419 CA2444352 |
845 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA2444349 rs775065185 |
847 | V>L | No |
ClinGen ExAC |
|
|
rs1462321719 CA353108019 |
851 | A>G | No |
ClinGen gnomAD |
|
|
rs745413697 CA2444347 |
853 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 854 | M>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1475875374 CA353107982 |
854 | M>V | No |
ClinGen gnomAD |
|
|
rs1457764063 CA353107929 |
856 | R>Q | No |
ClinGen TOPMed |
|
|
CA2444325 rs149186835 |
861 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 861 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444324 rs371456253 |
862 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770026090 CA2444322 |
865 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780302565 CA2444323 |
865 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 869 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 869 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 872 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 872 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 872 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 872 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353106255 rs1348672350 |
872 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 875 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444321 rs745908384 |
875 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1239654517 CA353106196 |
876 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA353106173 rs1370210377 |
877 | D>G | No |
ClinGen gnomAD |
|
|
rs71299609 CA74761674 |
881 | K>Q | No |
ClinGen Ensembl |
|
|
CA2444318 rs751492205 |
883 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758188391 CA2444316 |
885 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA353106015 rs1297138191 |
885 | I>V | No |
ClinGen TOPMed |
|
|
CA353105997 rs1370481342 |
886 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2444315 rs752454573 |
889 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353105936 rs1395076055 |
890 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 892 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_064675 rs753344888 CA2444312 |
893 | Y>C | found in hematopoietic, lymphoid, lung and liver cancer cell lines [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1220582073 CA353105867 |
894 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1445546752 CA353105839 |
895 | T>I | No |
ClinGen gnomAD |
|
| VAR_064676 | 895 | T>S | found in a lung cancer cell line [UniProt] | No | UniProt |
| TCGA novel | 896 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347039240 CA353105719 |
900 | N>S | No |
ClinGen gnomAD |
|
|
CA353105679 rs1278117574 |
902 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 903 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1222899722 CA353105631 |
904 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 909 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 913 | E>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA74761631 rs1001681503 |
914 | I>T | No |
ClinGen Ensembl |
|
|
rs760331627 CA353105075 |
919 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs760331627 CA2444310 |
919 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA353105021 rs1428187629 |
921 | R>Q | No |
ClinGen gnomAD |
|
|
rs774893166 CA2444309 |
922 | E>K | No |
ClinGen ExAC gnomAD |
|
| VAR_064677 | 922 | E>Q | found in a breast cancer cell line [UniProt] | No | UniProt |
|
rs769094785 CA2444308 |
923 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA353104944 rs1375307569 |
924 | E>G | No |
ClinGen gnomAD |
|
|
rs763328959 CA2444307 |
924 | E>K | No |
ClinGen ExAC gnomAD |
|
| VAR_064678 | 925 | K>Q | found in a colon cancer cell line [UniProt] | No | UniProt |
| TCGA novel | 926 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 927 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749924765 CA2444291 |
929 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs956368229 CA74790192 |
929 | E>V | No |
ClinGen Ensembl |
|
|
rs764622654 CA2444290 |
931 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs763374308 CA2444289 |
931 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 932 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353176601 rs1234239710 |
932 | E>K | No |
ClinGen TOPMed |
|
|
rs765579974 CA2444287 |
935 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA353176461 rs1401109882 |
936 | G>C | No |
ClinGen TOPMed |
|
|
rs1385173049 CA353176456 |
936 | G>D | No |
ClinGen TOPMed |
|
|
CA353176467 rs1401109882 |
936 | G>S | No |
ClinGen TOPMed |
|
|
rs375764191 CA74790152 |
937 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759932249 CA2444286 |
937 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs375764191 CA2444285 |
937 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2444284 rs771161122 |
938 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs587778591 CA353176385 |
939 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA353176392 rs1232278552 |
939 | G>S | No |
ClinGen gnomAD |
|
|
rs587778591 RCV000121774 CA161380 |
939 | G>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1228455931 CA353176380 |
940 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 940 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444282 rs141067977 |
941 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771983602 CA2444281 |
944 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs777583945 CA74790139 |
944 | H>Y | No |
ClinGen gnomAD |
|
|
rs1402934247 CA353176274 |
945 | R>C | No |
ClinGen gnomAD |
|
|
rs558843390 CA2444280 |
945 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1470122828 CA353176094 |
950 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA353175765 rs1211663291 |
956 | S>I | No |
ClinGen gnomAD |
|
|
rs749147440 CA2444277 |
957 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2444278 rs145255292 |
957 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 958 | Y>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444276 rs372395774 |
959 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766950254 CA2444273 |
962 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753112917 CA2444271 |
964 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2444272 rs756858926 |
964 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1242877278 CA353175411 |
965 | Y>F | No |
ClinGen TOPMed |
|
|
CA353175302 rs1274674750 |
966 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2444270 rs200477547 |
972 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1475165913 CA353174950 |
976 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 976 | H>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444269 rs759844033 |
977 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM220149 CA353174876 rs1379809767 |
978 | V>A | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs375687372 CA2444267 |
978 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 980 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA74790013 rs960330741 |
981 | E>A | No |
ClinGen TOPMed |
|
|
rs1560121508 CA353174705 |
985 | E>K | No |
ClinGen Ensembl |
|
|
CA353172236 rs1176569585 |
990 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 991 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 991 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA74788864 rs1035224558 |
992 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 992 | W>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259299276 CA353171975 |
994 | Y>C | No |
ClinGen gnomAD |
|
|
CA2444242 rs146315609 |
996 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1576218709 CA353171871 |
996 | C>W | No |
ClinGen Ensembl |
|
| TCGA novel | 999 | Y>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750583919 CA2444241 |
1000 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1004 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353171430 rs1248847706 |
1006 | H>Y | No |
ClinGen TOPMed |
|
|
rs1258134094 CA353171377 |
1007 | L>V | No |
ClinGen gnomAD |
|
|
CA353171354 rs1234499336 |
1008 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1012 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3824339 COSM3824340 CA353171149 rs1469145695 COSM3824341 |
1014 | E>Q | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 1016 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1017 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178581128 CA353170868 |
1018 | F>C | No |
ClinGen TOPMed |
|
|
rs774605948 CA2444238 |
1022 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353170734 rs774605948 |
1022 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353170672 rs1179315912 |
1024 | N>S | No |
ClinGen TOPMed |
|
|
CA353170606 rs1412822043 |
1027 | P>A | No |
ClinGen gnomAD |
|
|
CA353170391 rs775626700 |
1034 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1256276641 CA353170396 |
1034 | K>R | No |
ClinGen gnomAD |
|
|
rs777465977 CA2444210 |
1044 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA353169051 rs1454808042 |
1045 | K>E | No |
ClinGen TOPMed |
|
|
rs771543116 CA2444209 |
1047 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2444208 rs747709999 |
1047 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs187978633 CA2444207 |
1051 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2444206 rs756678646 |
1052 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750687374 CA2444205 |
1053 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1055502479 CA74788281 |
1054 | E>D | No |
ClinGen TOPMed |
|
|
CA353168703 rs1160034633 |
1054 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 1055 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757754297 CA2444203 |
1062 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781632065 CA2444204 |
1062 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353168179 rs1323522157 |
1064 | S>F | No |
ClinGen gnomAD |
|
|
rs1007067661 CA74788272 |
1065 | A>D | No |
ClinGen Ensembl |
|
|
rs1390795242 CA353167884 |
1070 | F>S | No |
ClinGen gnomAD |
|
|
rs201103279 CA2444201 |
1071 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758502969 CA2444200 |
1073 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2444196 rs776487197 |
1078 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353167608 rs1252564810 |
1078 | M>T | No |
ClinGen gnomAD |
|
|
CA353167585 rs1374811960 |
1079 | P>L | No |
ClinGen TOPMed |
|
|
rs766154467 CA2444195 |
1079 | P>S | No |
ClinGen ExAC gnomAD |
|
| VAR_064679 | 1079 | P>Y | requires 2 nucleotide substitutions; found in a colon cancer cell line [UniProt] | No | UniProt |
|
rs759389631 CA74788219 |
1081 | S>G | No |
ClinGen Ensembl |
|
|
rs772833716 CA2444193 |
1083 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs771737225 CA2444192 |
1086 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346914147 CA353167338 |
1087 | P>L | No |
ClinGen gnomAD |
|
|
CA353167348 rs1346914147 |
1087 | P>R | No |
ClinGen gnomAD |
|
|
CA353167313 COSM1047082 COSM1047083 COSM1047081 rs1331392443 |
1088 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs746373271 CA2444188 |
1088 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs936829713 CA74788196 |
1090 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1093 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781617265 CA2444187 |
1093 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA74788193 rs766031717 |
1093 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1161005639 CA353167152 |
1095 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 1095 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141958485 CA2444186 |
1096 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143085435 CA2444185 |
1097 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA74788166 rs143085435 |
1097 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2444184 rs201156614 |
1098 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1732135 COSM1732136 COSM1732134 rs201156614 CA2444183 VAR_064680 |
1098 | A>S | kidney found in hematopoietic and lymphoid cancer cell lines [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs201156614 CA353167087 |
1098 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1104 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444181 rs765343290 |
1104 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2444180 rs755075248 |
1105 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs917889600 CA74788130 |
1109 | D>E | No |
ClinGen Ensembl |
|
|
CA2444179 rs377485917 |
1109 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA74788126 rs865889670 |
1112 | N>H | No |
ClinGen gnomAD |
|
|
CA353166714 rs1276233437 |
1114 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs529483378 CA2444178 |
1114 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353166708 rs1413331563 |
1115 | N>D | No |
ClinGen TOPMed |
|
|
rs760418452 CA2444177 |
1115 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs767093710 CA2444175 |
1116 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA2444176 rs767093710 |
1116 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs990834187 CA74788089 |
1118 | D>G | No |
ClinGen Ensembl |
|
|
rs1560095469 CA353166669 |
1118 | D>N | No |
ClinGen Ensembl |
|
|
rs35102895 CA74788079 |
1120 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2444173 VAR_064681 rs35102895 |
1120 | R>Q | found in hematopoietic and lymphoid cancer cell lines [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA353166644 rs1341857262 |
1121 | A>S | No |
ClinGen gnomAD |
|
|
rs768209099 CA2444172 |
1124 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1126 | N>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777228498 CA2444170 |
1127 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA353163722 rs1395568069 |
1132 | E>D | No |
ClinGen TOPMed |
|
|
CA353163731 rs1175464873 |
1132 | E>Q | No |
ClinGen TOPMed |
|
|
rs200632871 CA2444153 |
1133 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200632871 CA2444154 |
1133 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1232088834 CA353163692 |
1135 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1135 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444152 rs762485022 |
1136 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1458775323 CA353163664 |
1137 | E>V | No |
ClinGen gnomAD |
|
|
CA2444150 rs373854321 |
1140 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141109671 CA74783840 |
1145 | C>Y | No |
ClinGen ESP |
|
|
rs761247872 CA2444149 |
1146 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1147 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773919133 CA74783825 |
1148 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1150 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772449438 CA2444147 |
1152 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA353163367 rs1165848783 |
1154 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs748508046 CA2444146 |
1156 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353163342 rs1306278787 |
1156 | M>V | No |
ClinGen TOPMed |
|
|
rs1348177372 CA353163223 |
1163 | C>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1164 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768794473 CA2444144 |
1166 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA353163111 rs1405871349 |
1169 | H>Y | No |
ClinGen gnomAD |
|
|
rs780124443 CA2444142 |
1173 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1318993618 CA353163032 |
1173 | R>H | No |
ClinGen TOPMed |
|
| TCGA novel | 1174 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1175 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369155727 CA2444140 |
1176 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353162928 rs369155727 |
1176 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| VAR_064682 | 1177 | G>S | found in a kidney cancer cell line [UniProt] | No | UniProt |
|
rs533143558 CA2444139 |
1178 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1360491739 CA353161296 |
1180 | E>K | No |
ClinGen gnomAD |
|
|
CA2444112 rs753432959 |
1185 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA74782069 rs866217387 |
1189 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 1195 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1197 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353159713 rs1467942087 |
1202 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs764361753 CA2444108 |
1202 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1202 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1203 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_064683 | 1204 | H>P | found in a case of clear cell renal carcinoma; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 1206 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1209 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_064684 | 1209 | M>del | found in a case of clear cell renal carcinoma; somatic mutation [UniProt] | No | UniProt |
|
rs775669754 CA2444106 |
1212 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2444105 rs770026172 |
1215 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1216 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353159021 rs1575920780 |
1219 | N>Y | No |
ClinGen Ensembl |
|
|
CA74782038 rs79886237 |
1220 | L>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 1222 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444103 rs776585540 |
1223 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2444102 rs771100470 |
1227 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2444101 rs746915869 |
1228 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1228 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1047080 COSM1047078 rs1311960562 CA353158435 COSM1047079 |
1231 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs763255409 CA2444087 |
1232 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA353152547 rs1559900408 |
1233 | C>S | No |
ClinGen Ensembl |
|
|
rs143617370 CA74772456 |
1234 | A>T | No |
ClinGen ESP gnomAD |
|
|
CA353152456 rs1332979792 |
1236 | L>M | No |
ClinGen gnomAD |
|
|
CA74772454 rs868202591 |
1236 | L>S | No |
ClinGen Ensembl |
|
|
CA353152327 rs1389353528 |
1240 | D>N | No |
ClinGen gnomAD |
|
|
rs1257279713 CA353152285 |
1241 | F>L | No |
ClinGen TOPMed |
|
|
rs924732981 CA74772452 |
1242 | L>P | No |
ClinGen TOPMed |
|
|
rs775835528 CA2444086 |
1244 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs765383171 CA2444085 |
1248 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA353152113 rs1370836009 |
1249 | I>V | No |
ClinGen gnomAD |
|
|
rs1370720673 CA353151999 |
1250 | P>L | No |
ClinGen gnomAD |
|
|
rs1575655277 CA353151927 |
1252 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 1252 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444084 rs759740227 |
1253 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA2444083 rs776977630 |
1254 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1257 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353151604 rs1180718174 |
1260 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 1260 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444082 rs560772391 |
1261 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs982726266 CA74772437 |
1262 | N>S | No |
ClinGen Ensembl |
|
|
rs1266754347 CA353151429 |
1264 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2444080 rs772970975 |
1265 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs772163973 CA2444079 |
1268 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA353151152 rs1409501820 |
1271 | F>L | No |
ClinGen TOPMed |
|
|
rs1239100370 CA353151122 |
1272 | K>R | No |
ClinGen gnomAD |
|
|
rs778866834 CA2444077 |
1274 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA2444075 rs748892487 |
1276 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149630630 CA2444076 |
1276 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755557896 CA2444073 |
1279 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2444071 rs778215010 |
1280 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758918362 CA2444070 |
1281 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2444069 rs150890583 |
1282 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765581705 CA2444068 |
1283 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1283 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444066 rs753982008 |
1284 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74772359 rs376747486 |
1284 | V>I | No |
ClinGen ESP TOPMed |
|
|
rs111483865 CA74772342 |
1285 | D>G | No |
ClinGen Ensembl |
|
| VAR_064685 | 1287 | E>Q | found in a breast cancer cell line [UniProt] | No | UniProt |
|
CA353150615 rs1212361524 |
1288 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 1293 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353150174 rs1280677016 |
1295 | I>T | No |
ClinGen gnomAD |
|
|
rs767705285 CA2444043 |
1295 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776550567 CA2444041 |
1297 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs776550567 CA2444042 |
1297 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA353150067 rs1340217547 |
1298 | Q>L | No |
ClinGen gnomAD |
|
|
CA353150008 rs1332685249 |
1300 | E>K | No |
ClinGen gnomAD |
|
|
rs1416373254 CA353149842 |
1305 | L>P | No |
ClinGen gnomAD |
|
|
rs948355658 CA74771862 |
1307 | K>E | No |
ClinGen gnomAD |
|
|
rs1464165958 CA353149754 |
1307 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1315 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444038 rs146951964 |
1317 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199643728 COSM1566688 COSM1566687 CA2444036 COSM1566686 |
1318 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1292028795 CA353149116 |
1321 | G>S | No |
ClinGen TOPMed |
|
|
CA353149085 rs1559891938 |
1322 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 1322 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs933552056 CA74771822 |
1323 | D>E | No |
ClinGen TOPMed |
|
|
rs1461443682 CA353149041 |
1323 | D>N | No |
ClinGen gnomAD |
|
|
rs907961765 CA74771817 |
1325 | D>G | No |
ClinGen gnomAD |
|
|
CA353148831 rs1245694711 |
1327 | E>A | No |
ClinGen TOPMed |
|
|
rs545777783 CA2444034 |
1330 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1250831550 CA353148596 |
1332 | E>K | No |
ClinGen TOPMed |
|
|
rs771196068 CA74771798 |
1332 | E>V | No |
ClinGen Ensembl |
|
| TCGA novel | 1337 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779348260 CA2444032 |
1337 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs933331364 CA74771783 |
1337 | I>V | No |
ClinGen gnomAD |
|
|
rs1215663620 CA353148206 |
1339 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1339 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353148194 rs1356335816 |
1339 | P>R | No |
ClinGen gnomAD |
|
|
rs755510462 CA2444031 |
1340 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs578206243 CA2444030 |
1340 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1340 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs975052107 CA74771739 |
1341 | S>P | No |
ClinGen Ensembl |
|
|
rs780455849 CA2444029 |
1342 | L>V | No |
ClinGen ExAC |
|
|
CA353148106 rs1275568834 |
1343 | P>H | No |
ClinGen TOPMed |
|
|
CA2444027 rs750646675 |
1344 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1346 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767904372 CA353147968 |
1347 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767904372 CA2444026 |
1347 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353147993 rs1575642238 |
1347 | T>P | No |
ClinGen Ensembl |
|
|
rs767904372 CA353147972 |
1347 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353147932 rs1171303700 |
1348 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA353147930 rs1171303700 |
1348 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs989942540 CA74771704 |
1348 | P>S | No |
ClinGen TOPMed |
|
|
CA2444023 rs763872667 |
1350 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA2444022 rs762933159 |
1354 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs775355986 CA2444021 |
1356 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1357 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2444020 rs369597128 |
1358 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2444018 rs776212770 |
1359 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353147391 rs1404713077 |
1360 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1360 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353147369 rs1232942838 |
1360 | P>L | No |
ClinGen gnomAD |
|
|
rs1404713077 CA353147400 |
1360 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 1361 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353147343 rs1031849363 |
1361 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA74771662 rs1031849363 |
1361 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA353147349 rs1220205958 |
1361 | P>S | No |
ClinGen gnomAD |
|
|
CA2444017 rs770598673 |
1362 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1285350121 CA353145722 |
1363 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1259783148 CA353145682 |
1365 | P>A | No |
ClinGen gnomAD |
|
|
CA353145664 rs1243758907 |
1366 | K>Q | No |
ClinGen TOPMed |
|
|
rs776411864 CA353145602 |
1367 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs371730711 CA2443999 |
1367 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776411864 CA2444000 |
1367 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1455184698 CA353145541 |
1368 | A>V | No |
ClinGen gnomAD |
|
|
rs1174894328 CA353145432 |
1370 | G>D | No |
ClinGen gnomAD |
|
|
rs1431131355 CA353145405 |
1371 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 1376 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353145156 rs1199584083 |
1376 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA353145138 rs1199584083 |
1376 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2443995 rs200783965 |
1377 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2443996 rs200783965 |
1377 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2443994 rs367999949 |
1381 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs554829380 CA2443992 |
1386 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1386 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2443991 rs781702167 |
1387 | I>N | No |
ClinGen ExAC |
|
|
rs1261731565 CA353144808 |
1388 | L>V | No |
ClinGen gnomAD |
|
|
rs1209675086 CA353144759 |
1390 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1391 | S>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310725440 CA353144654 |
1393 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1394 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2443990 rs771487360 |
1397 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353144530 rs1575614506 |
1399 | A>G | No |
ClinGen Ensembl |
|
|
CA353144528 rs1575614506 |
1399 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 1400 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276256973 CA353144361 |
1407 | G>R | No |
ClinGen gnomAD |
|
|
rs111345980 CA74770663 |
1410 | S>G | No |
ClinGen Ensembl |
|
| VAR_064686 | 1414 | G>E | found in a lung cancer cell line [UniProt] | No | UniProt |
|
rs1314009029 CA353143917 |
1421 | E>D | No |
ClinGen Ensembl |
|
|
CA353143867 rs1362364948 |
1422 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA353143854 rs1302111374 |
1423 | A>V | No |
ClinGen gnomAD |
|
|
CA2443987 rs758454919 COSM125145 |
1430 | E>K | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA353142044 rs1394076628 |
1431 | R>Q | No |
ClinGen gnomAD |
|
|
CA353141948 rs1293429170 |
1435 | V>F | No |
ClinGen gnomAD |
|
|
CA74764655 rs561610279 |
1441 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1337009790 CA353141738 |
1443 | R>* | No |
ClinGen gnomAD |
|
|
CA353141724 rs1445647299 |
1443 | R>Q | No |
ClinGen gnomAD |
|
|
rs1575573284 CA353141530 |
1449 | Q>H | No |
ClinGen Ensembl |
|
|
CA353141461 rs1169202794 |
1451 | S>C | No |
ClinGen gnomAD |
|
|
rs1463927694 CA353141415 |
1453 | S>T | No |
ClinGen gnomAD |
|
|
rs1413760303 CA353141402 |
1453 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1364896872 CA353141351 |
1454 | P>A | No |
ClinGen TOPMed |
|
|
CA353141335 rs1353215997 |
1455 | R>* | No |
ClinGen gnomAD |
|
|
rs968064758 CA74764654 |
1455 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA353141184 rs1319985402 |
1460 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA74764649 rs1022754387 |
1462 | A>G | No |
ClinGen Ensembl |
|
|
rs1443187477 CA353141135 |
1462 | A>T | No |
ClinGen gnomAD |
|
|
rs1046200702 CA74764647 |
1463 | L>V | No |
ClinGen TOPMed |
|
|
CA353140976 rs1575572432 |
1466 | V>G | No |
ClinGen Ensembl |
|
|
CA353140687 rs1184403991 |
1471 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1472 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457533311 CA353140614 |
1473 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA74764644 rs1009486215 |
1476 | L>F | No |
ClinGen Ensembl |
|
|
rs1463000203 CA353140416 |
1477 | N>S | No |
ClinGen gnomAD |
|
|
CA74764642 rs1014343852 |
1478 | Q>R | No |
ClinGen TOPMed |
|
|
CA353140169 rs1242773031 |
1482 | P>S | No |
ClinGen TOPMed |
|
|
rs892381016 CA74764641 |
1484 | A>T | No |
ClinGen Ensembl |
|
|
CA2443972 rs771399361 |
1485 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs747399046 CA2443971 |
1487 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs778015952 CA2443970 |
1489 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2443969 rs772183616 |
1491 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1493 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2443967 rs778843055 |
1494 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs755115410 CA2443966 |
1495 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74763483 rs368586641 |
1500 | P>T | No |
ClinGen Ensembl |
|
|
rs780018691 CA353137961 |
1501 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2443964 rs780018691 |
1501 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184034549 CA353137935 |
1502 | D>G | No |
ClinGen gnomAD |
|
| VAR_064687 | 1503 | G>C | found in a stomach cancer cell line [UniProt] | No | UniProt |
|
rs534391770 CA2443962 |
1503 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353137863 rs1220119933 |
1503 | G>V | No |
ClinGen gnomAD |
|
|
CA353137830 rs1417216069 |
1505 | V>I | No |
ClinGen Ensembl |
|
|
rs1575527612 CA353137721 |
1507 | M>R | No |
ClinGen Ensembl |
|
|
rs761386514 CA74763465 |
1509 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs761386514 CA2443960 |
1509 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1575527424 CA353137565 |
1510 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 1511 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1006304898 CA74763458 |
1512 | P>Q | No |
ClinGen Ensembl |
|
|
CA353137382 rs201036766 |
1515 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201036766 CA2443959 |
1515 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA74763435 rs950807031 |
1517 | G>E | No |
ClinGen gnomAD |
|
| rs1559827261 | 1518 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1026241998 CA74763427 |
1518 | P>T | No |
ClinGen gnomAD |
|
|
rs554813783 CA74763412 |
1519 | P>L | No |
ClinGen gnomAD |
|
|
rs1429210453 CA353137191 |
1520 | P>S | No |
ClinGen TOPMed |
|
|
rs762598795 CA2443957 |
1521 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353137077 rs1234047813 |
1522 | H>Q | No |
ClinGen TOPMed |
|
|
CA353137123 rs1368022648 |
1522 | H>R | No |
ClinGen gnomAD |
|
|
rs1304065662 CA353137049 |
1523 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
COSM4150009 COSM4150010 rs777226267 CA2443956 |
1524 | P>L | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1377136421 CA353136876 |
1526 | G>A | No |
ClinGen gnomAD |
|
|
rs1377136421 CA353136884 |
1526 | G>D | No |
ClinGen gnomAD |
|
|
rs761034188 CA2443954 |
1526 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2443953 rs143564112 COSM1235550 |
1527 | V>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA353136742 rs1201304205 |
1530 | L>V | No |
ClinGen TOPMed |
|
|
CA353136684 rs1269557269 |
1531 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA353136665 rs1445391511 |
1532 | G>D | No |
ClinGen TOPMed |
|
|
CA353136556 rs1248596646 |
1535 | P>S | No |
ClinGen TOPMed |
|
|
CA2443951 rs145488469 |
1536 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2443952 rs772543387 |
1536 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA74761634 rs143661199 |
1538 | V>M | No |
ClinGen ESP |
|
|
rs1032546493 CA74761632 |
1540 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA353134443 rs1228651034 |
1543 | V>A | No |
ClinGen gnomAD |
|
|
rs767739463 CA2443935 |
1544 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1544 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2443934 COSM1692826 rs762288924 COSM1692825 COSM1692824 |
1544 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs774508637 CA2443933 |
1546 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1406912189 CA353134310 |
1547 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1454816622 CA353134330 |
1547 | V>L | No |
ClinGen gnomAD |
|
|
rs768897886 CA2443932 |
1549 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs749299765 CA2443931 |
1550 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA353134211 rs1425385514 |
1550 | P>T | No |
ClinGen TOPMed |
|
|
rs1383208960 CA353134124 |
1552 | P>L | No |
ClinGen gnomAD |
|
|
rs769978319 CA2443929 |
1553 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1237019614 CA353134102 |
1553 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1558 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_064688 | 1560 | Q>H | found in an endometrial cancer cell line [UniProt] | No | UniProt |
| TCGA novel | 1560 | Q>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778674241 CA2443900 |
1561 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs778674241 CA2443901 |
1561 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1562 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2443899 rs754399493 |
1564 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1564 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2443898 COSM1732214 COSM1732215 COSM1732213 rs753421798 |
1566 | P>L | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2443897 rs199944513 |
1567 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757796273 CA2443896 |
1569 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1559796714 CA353133230 |
1571 | A>V | No |
ClinGen Ensembl |
|
|
CA353133174 rs1371444327 |
1573 | P>A | No |
ClinGen TOPMed |
|
|
CA353133133 rs1559796529 |
1574 | P>A | No |
ClinGen Ensembl |
|
|
rs1559796469 CA353133098 |
1575 | Y>H | No |
ClinGen Ensembl |
|
|
CA2443894 rs764441740 |
1576 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA2443892 rs200150658 |
1577 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765524945 CA2443891 |
1577 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1037568674 CA74761420 |
1578 | P>S | No |
ClinGen TOPMed |
|
|
CA353132959 rs1321286512 |
1579 | H>N | No |
ClinGen gnomAD |
|
|
rs767731304 CA2443889 |
1580 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA2443888 rs770973480 |
1580 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353132902 rs1361004473 |
1581 | A>T | No |
ClinGen gnomAD |
|
|
CA2443887 rs760685169 |
1582 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1433971214 CA353132870 |
1583 | P>R | No |
ClinGen TOPMed |
|
|
rs144852450 CA2443886 RCV000487857 |
1583 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs144852450 CA353132877 |
1583 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201088500 CA2443885 |
1584 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs201088500 CA2443884 |
1584 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA353132859 rs1345421279 |
1584 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2443881 rs768360550 |
1590 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1327703585 CA353132653 |
1594 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 1594 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201684321 CA2443879 |
1595 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1486933581 CA353132620 |
1596 | A>S | No |
ClinGen gnomAD |
|
|
rs1242947239 CA353132614 |
1596 | A>V | No |
ClinGen gnomAD |
|
|
rs1338391321 CA353132597 |
1597 | P>T | No |
ClinGen gnomAD |
|
|
rs1203327562 CA353132469 |
1602 | Q>R | No |
ClinGen gnomAD |
|
|
CA2443878 rs563717316 |
1603 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1605 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1607 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1608 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778303337 CA2443876 |
1612 | K>R | No |
ClinGen ExAC gnomAD |
|
| VAR_064689 | 1614 | I>N | found in a case of clear cell renal carcinoma; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 1618 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000121775 rs142726131 CA161382 |
1619 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1027009830 CA74761318 |
1621 | S>P | No |
ClinGen gnomAD |
|
|
rs995580383 CA74761317 |
1623 | S>N | No |
ClinGen Ensembl |
|
|
CA353131866 rs1362157547 |
1624 | I>V | No |
ClinGen gnomAD |
|
|
CA353131671 rs1575460572 |
1628 | D>G | No |
ClinGen Ensembl |
|
|
rs1335652201 CA353131680 |
1628 | D>Y | No |
ClinGen gnomAD |
|
|
rs1450064934 CA353131664 |
1629 | Q>* | No |
ClinGen gnomAD |
|
|
CA2443874 rs765315890 |
1631 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353131582 rs1466953081 |
1632 | A>S | No |
ClinGen gnomAD |
|
|
rs1373014199 CA353131564 |
1633 | A>T | No |
ClinGen gnomAD |
|
|
CA2443856 rs375268569 |
1634 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163354335 CA353130696 |
1636 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs879167521 CA74759660 |
1636 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
RCV000121776 CA161384 rs201397730 |
1637 | D>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs779331178 CA2443854 |
1638 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178877286 CA353130591 |
1639 | H>R | No |
ClinGen gnomAD |
|
|
rs907606869 CA74759616 |
1640 | L>F | No |
ClinGen Ensembl |
|
|
rs1307117980 CA353130548 |
1641 | S>L | No |
ClinGen TOPMed |
|
| TCGA novel | 1644 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353130448 rs1224208524 |
1644 | Q>R | No |
ClinGen TOPMed |
|
|
CA353130369 rs1219982536 |
1646 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2443851 VAR_064690 rs200020801 |
1647 | R>C | found in a breast cancer cell line [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2443850 rs376146705 |
1647 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353130168 rs1351647250 |
1651 | H>Q | No |
ClinGen gnomAD |
|
|
CA74759590 rs1013158855 |
1651 | H>R | No |
ClinGen TOPMed |
|
|
rs761798603 CA2443847 |
1654 | K>R | No |
ClinGen ExAC |
|
|
CA74759576 rs977027732 |
1655 | S>T | No |
ClinGen Ensembl |
|
|
rs1457817627 CA353129999 |
1656 | K>R | No |
ClinGen TOPMed |
|
|
rs1302879949 CA353129979 |
1657 | G>R | No |
ClinGen gnomAD |
|
|
rs964321410 CA74759575 |
1659 | H>D | No |
ClinGen Ensembl |
|
|
CA353129920 rs1423149207 |
1660 | T>N | No |
ClinGen gnomAD |
|
|
CA353129918 rs1423149207 |
1660 | T>S | No |
ClinGen gnomAD |
|
|
rs1575421603 CA353129754 |
1666 | L>F | No |
ClinGen Ensembl |
|
|
rs1436814738 CA353129706 |
1668 | R>C | No |
ClinGen gnomAD |
|
|
rs1367900513 CA353129700 |
1668 | R>H | No |
ClinGen gnomAD |
|
|
CA353129634 rs1164015194 |
1670 | R>* | No |
ClinGen gnomAD |
|
|
CA353129608 rs1413674197 |
1671 | D>N | No |
ClinGen TOPMed |
|
|
rs200304933 CA74759567 |
1675 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs763922587 CA2443845 |
1677 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs781198711 CA74759549 |
1679 | N>S | No |
ClinGen TOPMed |
|
|
rs775162970 CA2443843 |
1681 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74759523 rs775162970 |
1681 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2443842 rs371624499 |
1681 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs761719532 CA74759503 |
1682 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs761719532 CA2443841 |
1682 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA2443840 rs776101324 |
1684 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770490657 CA2443839 |
1685 | N>H | No |
ClinGen ExAC |
|
|
CA353128978 rs1348114882 |
1685 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 1687 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q86U86
[MIM: 144700]: Renal cell carcinoma (RCC)
Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. {ECO:0000269|PubMed:21248752}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. {ECO:0000269|PubMed:21248752}. Note=The disease is caused by variants affecting the gene represented in this entry.
15 regional properties for Q86U86
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Bromo adjacent homology (BAH) domain | 956 - 1074 | IPR001025-1 |
| domain | Bromo adjacent homology (BAH) domain | 1156 - 1272 | IPR001025-2 |
| domain | Bromodomain | 43 - 153 | IPR001487-1 |
| domain | Bromodomain | 175 - 289 | IPR001487-2 |
| domain | Bromodomain | 379 - 489 | IPR001487-3 |
| domain | Bromodomain | 516 - 627 | IPR001487-4 |
| domain | Bromodomain | 651 - 765 | IPR001487-5 |
| domain | Bromodomain | 775 - 881 | IPR001487-6 |
| domain | High mobility group box domain | 1378 - 1448 | IPR009071 |
| conserved_site | Bromodomain, conserved site | 72 - 126 | IPR018359-1 |
| conserved_site | Bromodomain, conserved site | 205 - 262 | IPR018359-2 |
| conserved_site | Bromodomain, conserved site | 405 - 462 | IPR018359-3 |
| conserved_site | Bromodomain, conserved site | 548 - 600 | IPR018359-4 |
| conserved_site | Bromodomain, conserved site | 681 - 738 | IPR018359-5 |
| domain | Protein polybromo-1, Bromodomain 5 | 658 - 762 | IPR037968 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
| nuclear chromosome | A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| RSC-type complex | A SWI/SNF-type complex that contains a bromodomain containing-protein, such as yeast Rsc1 or Rsc4 or mammalian PB1/BAF180. The RSC complex is generally recruited to RNA polymerase III promoters and is specifically recruited to RNA polymerase II promoters by transcriptional activators and repressors; it is also involved in non-homologous end joining. |
| SWI/SNF complex | A SWI/SNF-type complex that contains 8 to 14 proteins, including both conserved (core) and nonconserved components; contains the ATPase product of the yeast SNF2 or mammalian SMARCA4/BAF190A/BRG1 gene, or an ortholog thereof. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| chromatin remodeling | A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication. |
| mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| positive regulation of cell differentiation | Any process that activates or increases the frequency, rate or extent of cell differentiation. |
| positive regulation of double-strand break repair | Any process that activates or increases the frequency, rate or extent of double-strand break repair. |
| positive regulation of myoblast differentiation | Any process that activates or increases the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. |
| positive regulation of T cell differentiation | Any process that activates or increases the frequency, rate or extent of T cell differentiation. |
| regulation of G0 to G1 transition | A cell cycle process that modulates the rate or extent of the transition from the G0 quiescent state to the G1 phase. |
| regulation of G1/S transition of mitotic cell cycle | Any signalling pathway that modulates the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle. |
| regulation of mitotic metaphase/anaphase transition | Any process that modulates the frequency, rate or extent of the cell cycle process in which a cell progresses from metaphase to anaphase during mitosis, triggered by the activation of the anaphase promoting complex by Cdc20/Sleepy homolog which results in the degradation of Securin. |
| regulation of nucleotide-excision repair | Any process that modulates the frequency, rate or extent of nucleotide-excision repair. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8BSQ9 | Pbrm1 | Protein polybromo-1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSKRRRATS | PSSSVSGDFD | DGHHSVSTPG | PSRKRRRLSN | LPTVDPIAVC | HELYNTIRDY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KDEQGRLLCE | LFIRAPKRRN | QPDYYEVVSQ | PIDLMKIQQK | LKMEEYDDVN | LLTADFQLLF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NNAKSYYKPD | SPEYKAACKL | WDLYLRTRNE | FVQKGEADDE | DDDEDGQDNQ | GTVTEGSSPA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YLKEILEQLL | EAIVVATNPS | GRLISELFQK | LPSKVQYPDY | YAIIKEPIDL | KTIAQRIQNG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SYKSIHAMAK | DIDLLAKNAK | TYNEPGSQVF | KDANSIKKIF | YMKKAEIEHH | EMAKSSLRMR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TPSNLAAARL | TGPSHSKGSL | GEERNPTSKY | YRNKRAVQGG | RLSAITMALQ | YGSESEEDAA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LAAARYEEGE | SEAESITSFM | DVSNPFYQLY | DTVRSCRNNQ | GQLIAEPFYH | LPSKKKYPDY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YQQIKMPISL | QQIRTKLKNQ | EYETLDHLEC | DLNLMFENAK | RYNVPNSAIY | KRVLKLQQVM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QAKKKELARR | DDIEDGDSMI | SSATSDTGSA | KRKSKKNIRK | QRMKILFNVV | LEAREPGSGR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RLCDLFMVKP | SKKDYPDYYK | IILEPMDLKI | IEHNIRNDKY | AGEEGMIEDM | KLMFRNARHY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NEEGSQVYND | AHILEKLLKE | KRKELGPLPD | DDDMASPKLK | LSRKSGISPK | KSKYMTPMQQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KLNEVYEAVK | NYTDKRGRRL | SAIFLRLPSR | SELPDYYLTI | KKPMDMEKIR | SHMMANKYQD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| IDSMVEDFVM | MFNNACTYNE | PESLIYKDAL | VLHKVLLETR | RDLEGDEDSH | VPNVTLLIQE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LIHNLFVSVM | SHQDDEGRCY | SDSLAEIPAV | DPNFPNKPPL | TFDIIRKNVE | NNRYRRLDLF |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QEHMFEVLER | ARRMNRTDSE | IYEDAVELQQ | FFIKIRDELC | KNGEILLSPA | LSYTTKHLHN |
| 910 | 920 | 930 | 940 | 950 | 960 |
| DVEKERKEKL | PKEIEEDKLK | REEEKREAEK | SEDSSGAAGL | SGLHRTYSQD | CSFKNSMYHV |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| GDYVYVEPAE | ANLQPHIVCI | ERLWEDSAGE | KWLYGCWFYR | PNETFHLATR | KFLEKEVFKS |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| DYYNKVPVSK | ILGKCVVMFV | KEYFKLCPEN | FRDEDVFVCE | SRYSAKTKSF | KKIKLWTMPI |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| SSVRFVPRDV | PLPVVRVASV | FANADKGDDE | KNTDNSEDSR | AEDNFNLEKE | KEDVPVEMSN |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| GEPGCHYFEQ | LHYNDMWLKV | GDCVFIKSHG | LVRPRVGRIE | KVWVRDGAAY | FYGPIFIHPE |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| ETEHEPTKMF | YKKEVFLSNL | EETCPMTCIL | GKCAVLSFKD | FLSCRPTEIP | ENDILLCESR |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| YNESDKQMKK | FKGLKRFSLS | AKVVDDEIYY | FRKPIVPQKE | PSPLLEKKIQ | LLEAKFAELE |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| GGDDDIEEMG | EEDSEVIEPP | SLPQLQTPLA | SELDLMPYTP | PQSTPKSAKG | SAKKEGSKRK |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| INMSGYILFS | SEMRAVIKAQ | HPDYSFGELS | RLVGTEWRNL | ETAKKAEYEE | RAAKVAEQQE |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| RERAAQQQQP | SASPRAGTPV | GALMGVVPPP | TPMGMLNQQL | TPVAGMMGGY | PPGLPPLQGP |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| VDGLVSMGSM | QPLHPGGPPP | HHLPPGVPGL | PGIPPPGVMN | QGVAPMVGTP | APGGSPYGQQ |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| VGVLGPPGQQ | APPPYPGPHP | AGPPVIQQPT | TPMFVAPPPK | TQRLLHSEAY | LKYIEGLSAE |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| SNSISKWDQT | LAARRRDVHL | SKEQESRLPS | HWLKSKGAHT | TMADALWRLR | DLMLRDTLNI |
| RQAYNLENV |