Q9UPU7
PR
Gene name |
TBC1D2B (KIAA1055) |
Protein name |
TBC1 domain family member 2B |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23102 |
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
1 structures for Q9UPU7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UPU7-F1 | Predicted | AlphaFoldDB |
694 variants for Q9UPU7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_085821 | 494 | Q>del | NEDSGO [UniProt] | Yes | UniProt |
| VAR_085822 | 765 | Y>del | NEDSGO [UniProt] | Yes | UniProt |
| VAR_085823 | 793 | L>del | NEDSGO; severely reduced protein abundance due to nonsense-mediated decay of mutant transcripts in homozygous patient cells [UniProt] | Yes | UniProt |
|
CA273813427 rs1016991710 |
2 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1016991710 CA393545109 |
2 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA273813422 rs888940447 |
4 | A>P | No |
ClinGen TOPMed |
|
|
CA393545037 rs1227917741 |
6 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1227917741 CA393545042 |
6 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1227917741 CA393545039 |
6 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1162855132 CA393545026 |
6 | A>V | No |
ClinGen gnomAD |
|
|
rs1596335589 CA393545022 |
7 | R>G | No |
ClinGen Ensembl |
|
|
CA273813419 rs1029276274 |
7 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA7679735 rs7176425 |
8 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1237402962 CA393544972 |
9 | E>* | No |
ClinGen TOPMed |
|
|
rs1178228504 CA393544956 |
9 | E>G | No |
ClinGen gnomAD |
|
|
rs1596335573 CA393544927 |
10 | E>G | No |
ClinGen Ensembl |
|
|
rs1596335570 CA393544879 |
12 | G>S | No |
ClinGen Ensembl |
|
|
CA393544795 rs1487728128 |
15 | G>C | No |
ClinGen TOPMed |
|
|
rs1333634121 CA393544783 |
16 | E>K | No |
ClinGen gnomAD |
|
|
rs903545775 CA273813403 |
18 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs947827125 CA273813394 |
20 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA273813399 rs1043466338 |
20 | Q>L | No |
ClinGen TOPMed |
|
|
rs1043466338 CA393544733 |
20 | Q>R | No |
ClinGen TOPMed |
|
|
rs1360946944 CA393544707 |
22 | A>P | No |
ClinGen gnomAD |
|
|
rs1444135412 CA393544689 |
24 | A>G | No |
ClinGen TOPMed |
|
|
rs1315090440 CA393544680 |
25 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1239007611 CA393544677 |
26 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1320422566 CA393544674 |
26 | P>L | No |
ClinGen TOPMed |
|
|
rs1309612420 CA393544672 |
27 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7679732 rs780500622 |
29 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273813364 rs780500622 |
29 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426672440 CA393544652 |
30 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA393544646 rs1366303701 |
31 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1440436696 CA393544644 |
32 | R>W | No |
ClinGen TOPMed |
|
|
CA393544639 rs1178997650 |
33 | E>Q | No |
ClinGen TOPMed |
|
|
CA393544623 rs1158070005 |
35 | A>G | No |
ClinGen gnomAD |
|
|
rs918809412 CA273813361 |
35 | A>T | No |
ClinGen TOPMed |
|
|
rs1158070005 CA393544622 |
35 | A>V | No |
ClinGen gnomAD |
|
|
CA393544617 rs1438076671 |
36 | R>L | No |
ClinGen gnomAD |
|
|
rs1438076671 CA393544619 |
36 | R>Q | No |
ClinGen gnomAD |
|
|
CA393544610 rs1183805744 |
38 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA393544572 rs1266644412 |
43 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA393544555 rs1377143081 |
46 | G>C | No |
ClinGen TOPMed |
|
|
rs1443805978 CA393544541 |
48 | G>S | No |
ClinGen TOPMed |
|
|
rs1167540587 CA393544518 |
52 | G>S | No |
ClinGen gnomAD |
|
|
rs1215179726 CA393544503 |
53 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA393544499 rs1567039272 |
54 | R>G | No |
ClinGen Ensembl |
|
|
rs1262113830 CA393544467 |
56 | R>L | No |
ClinGen gnomAD |
|
|
rs1240275742 CA393544456 |
57 | W>* | No |
ClinGen gnomAD |
|
|
CA273813356 rs9047 |
60 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA273813353 rs985554216 |
62 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1346627072 CA393544383 |
63 | R>G | No |
ClinGen gnomAD |
|
|
rs1206802466 CA393544375 |
63 | R>P | No |
ClinGen TOPMed |
|
|
rs746607807 CA7679730 |
65 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393544337 rs1417933587 |
66 | Y>C | No |
ClinGen gnomAD |
|
|
CA393544343 rs1196082774 |
66 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA393544326 rs1387490993 |
67 | L>F | No |
ClinGen gnomAD |
|
|
CA273813347 rs997268037 |
70 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA273813341 rs539291958 |
71 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7679729 rs777614702 |
73 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs999423467 CA273813318 |
74 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 77 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393544142 rs1263461514 |
78 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA273813310 rs898218191 |
78 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA393544081 rs1242714293 |
80 | G>D | No |
ClinGen gnomAD |
|
|
rs766898768 CA7679726 |
81 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563823643 CA393543956 |
84 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7679725 rs563823643 |
84 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1217243310 CA393543946 |
85 | A>T | No |
ClinGen TOPMed |
|
|
rs1277964604 CA393543931 |
85 | A>V | No |
ClinGen TOPMed |
|
|
rs1318961596 CA393543888 |
88 | C>S | No |
ClinGen TOPMed |
|
|
CA393543810 rs1278108746 |
91 | Y>F | No |
ClinGen gnomAD |
|
|
CA393543771 rs1428780420 |
92 | Q>* | No |
ClinGen gnomAD |
|
|
rs1216566200 CA393543694 |
95 | D>E | No |
ClinGen TOPMed |
|
|
CA393543716 rs1395685834 |
95 | D>N | No |
ClinGen gnomAD |
|
|
CA393543643 rs1404098888 |
97 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs767455235 CA7679723 |
100 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767455235 CA393543510 |
100 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947829941 CA273813305 |
102 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7679722 rs761904585 |
103 | E>Q | No |
ClinGen ExAC |
|
|
rs774535158 CA7679721 |
104 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192766265 CA393543349 |
105 | P>R | No |
ClinGen TOPMed |
|
|
rs1474364426 CA393543350 |
105 | P>S | No |
ClinGen gnomAD |
|
|
rs1240877107 CA393543288 |
107 | H>Q | No |
ClinGen gnomAD |
|
|
CA7679720 rs545635502 |
107 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1206031190 CA393543241 |
108 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA273813298 rs1051438261 |
112 | S>C | No |
ClinGen TOPMed |
|
|
CA393543159 rs1051438261 |
112 | S>R | No |
ClinGen TOPMed |
|
|
rs576641407 CA273813294 |
112 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA273813289 rs575093964 |
113 | A>V | No |
ClinGen 1000Genomes |
|
|
CA7679719 rs762721837 |
114 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA393543089 rs1213357350 |
115 | A>T | No |
ClinGen gnomAD |
|
|
rs1342016282 CA393543074 |
115 | A>V | No |
ClinGen gnomAD |
|
|
CA393543040 rs1244156385 |
117 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA393543001 rs1454415596 |
120 | K>E | No |
ClinGen gnomAD |
|
|
rs1479747425 CA393538724 |
121 | A>T | No |
ClinGen gnomAD |
|
|
rs1271672197 CA393538712 |
122 | P>A | No |
ClinGen gnomAD |
|
|
rs1386269223 CA393538708 |
122 | P>H | No |
ClinGen gnomAD |
|
|
CA7679703 rs368939236 |
123 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763094508 CA7679702 |
124 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375276991 CA7679701 |
124 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393538689 rs763094508 |
124 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174672946 CA393538651 |
127 | M>V | No |
ClinGen Ensembl |
|
|
CA7679699 rs759420305 |
128 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1284707073 CA393538619 |
129 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs776398154 CA7679698 |
131 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 132 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7679697 rs771056168 |
133 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs772793908 CA7679695 |
139 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1237212343 CA393538456 |
139 | W>R | No |
ClinGen TOPMed |
|
|
rs565962626 CA273801443 |
140 | E>D | No |
ClinGen 1000Genomes |
|
|
rs140948562 CA7679694 |
142 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7679693 rs747718979 |
143 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679692 rs778649769 |
145 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345350614 CA393538299 |
147 | M>T | No |
ClinGen gnomAD |
|
|
rs1484379826 CA393538268 |
149 | K>T | No |
ClinGen TOPMed |
|
|
rs770034394 CA7679691 |
150 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1250671792 CA393538163 |
155 | S>C | No |
ClinGen TOPMed |
|
|
rs369892294 CA393538127 |
157 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369892294 CA7679688 |
157 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM277616 rs571404029 COSM277617 CA7679685 |
159 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7679683 COSM368065 COSM368064 rs765533230 |
160 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs962601896 CA273801406 |
164 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA393537859 rs1596326131 |
167 | A>V | No |
ClinGen Ensembl |
|
|
rs1264730374 CA393537834 |
169 | D>Y | No |
ClinGen gnomAD |
|
|
CA393537804 rs145669267 |
170 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7679680 rs145669267 |
170 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1395952765 CA393537774 |
171 | T>A | No |
ClinGen TOPMed |
|
|
CA273797334 rs780387999 |
173 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1470197868 CA393535157 |
174 | I>V | No |
ClinGen TOPMed |
|
|
rs755173989 CA7679661 |
176 | P>S | No |
ClinGen ExAC TOPMed |
|
|
rs1243343669 CA393535049 |
179 | N>S | No |
ClinGen gnomAD |
|
|
rs147942157 CA7679659 |
180 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756000014 CA7679658 |
181 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1371870117 CA393534994 |
182 | A>V | No |
ClinGen gnomAD |
|
|
rs1374587864 CA393534961 |
184 | K>E | No |
ClinGen TOPMed |
|
|
rs1300385302 CA393534955 |
184 | K>T | No |
ClinGen gnomAD |
|
|
rs1365062029 CA393534932 |
185 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7679656 rs767603518 |
186 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA393534866 rs1386094558 |
190 | A>P | No |
ClinGen gnomAD |
|
|
rs1330797002 CA393534848 |
191 | V>L | No |
ClinGen TOPMed |
|
|
CA7679654 rs761226895 |
197 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA393534759 rs761226895 |
197 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1355109557 CA393534699 |
201 | E>K | No |
ClinGen TOPMed |
|
|
rs1358151873 CA393534678 |
202 | Q>E | No |
ClinGen gnomAD |
|
|
CA7679652 rs763515275 |
206 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs61732053 CA7679650 |
208 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393534523 rs1219534284 |
210 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA393534525 rs1219534284 |
210 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7679649 CA7679648 rs747411388 |
210 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 212 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7679645 rs748618693 |
215 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679646 rs148761849 |
215 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778987044 CA7679644 |
216 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7679643 rs144959644 |
218 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1410988581 CA393534340 |
219 | S>C | No |
ClinGen gnomAD |
|
|
rs1345363682 COSM228627 CA393534259 COSM228628 |
223 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs372146800 CA7679642 |
225 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393534213 rs1366477789 |
226 | E>* | No |
ClinGen gnomAD |
|
|
rs367645493 CA7679641 |
227 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs202117895 CA7679622 |
235 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778007933 CA7679621 |
235 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261611439 CA393534017 |
236 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA273790141 rs78493089 |
237 | G>R | No |
ClinGen TOPMed |
|
|
CA273790138 rs78493089 |
237 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA393534001 rs1269675416 |
239 | G>R | No |
ClinGen gnomAD |
|
|
CA393533995 rs944469028 |
240 | H>N | No |
ClinGen gnomAD |
|
|
CA7679619 rs746108639 |
240 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA273790131 rs944469028 |
240 | H>Y | No |
ClinGen gnomAD |
|
|
rs780997696 CA7679618 |
242 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA393533980 rs1274106033 |
242 | D>Y | No |
ClinGen TOPMed |
|
|
CA7679617 rs758566825 |
244 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199810541 CA273790124 |
245 | R>K | No |
ClinGen 1000Genomes |
|
|
CA273790121 rs200603362 |
248 | F>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs751488426 CA7679616 |
248 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA393533943 rs200603362 |
248 | F>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs149893270 CA7679615 |
250 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA273790111 rs201472317 |
251 | N>D | No |
ClinGen 1000Genomes |
|
|
rs1474130554 CA393533922 |
251 | N>S | No |
ClinGen gnomAD |
|
|
rs757898905 CA7679614 |
256 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679612 rs764739444 |
259 | P>Q | No |
ClinGen ExAC |
|
|
CA7679611 rs759124666 |
260 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs778967483 CA273790091 |
260 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 264 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs953065755 CA273790085 |
266 | E>G | No |
ClinGen Ensembl |
|
|
rs767875949 CA7679609 |
268 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7679610 rs753521405 |
268 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1272908534 CA393533787 |
271 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA393533781 rs1194201405 |
272 | E>K | No |
ClinGen gnomAD |
|
|
rs762134429 CA393533772 |
273 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762134429 CA7679608 |
273 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245534319 CA393533753 |
275 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7679607 rs774895230 |
277 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679606 rs769113464 |
280 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78162825 CA393557705 |
284 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs78162825 CA7679584 |
284 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7679582 rs763489763 |
292 | D>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1374751 rs776160197 CA7679581 COSM1374750 |
295 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA393556777 rs1222621975 |
295 | R>H | No |
ClinGen gnomAD |
|
|
CA393556783 rs776160197 |
295 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393556747 rs1446584386 |
297 | P>S | No |
ClinGen gnomAD |
|
|
CA7679580 rs769969645 |
298 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393556689 rs1206157906 |
301 | K>M | No |
ClinGen TOPMed |
|
|
rs776903939 CA7679578 |
302 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA273837820 rs906111888 |
302 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7679577 rs771116238 |
305 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1045785386 CA273837790 |
306 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs747267144 CA7679576 |
306 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA393556653 rs1480719043 |
307 | I>T | No |
ClinGen TOPMed |
|
|
CA7679575 rs373954401 |
307 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1171963490 CA393556642 |
309 | G>R | No |
ClinGen TOPMed |
|
|
CA273837771 rs887632468 |
310 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1047785987 CA273837768 |
311 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 313 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778871441 CA7679572 |
314 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7679571 rs139961303 |
314 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7679570 rs560514246 |
319 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs901809431 CA273837693 |
320 | P>S | No |
ClinGen gnomAD |
|
|
rs901809431 CA393556533 |
320 | P>T | No |
ClinGen gnomAD |
|
|
rs545701621 CA7679569 COSM1374749 COSM1374748 |
322 | S>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs545701621 CA393556512 |
322 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs929830761 CA273837674 |
322 | S>T | No |
ClinGen TOPMed |
|
|
rs755667786 CA7679568 |
323 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs750097405 CA7679567 |
324 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679566 rs764501629 |
325 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679565 rs758879999 |
328 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA393556420 rs1268484421 |
330 | S>G | No |
ClinGen gnomAD |
|
|
TCGA novel rs765906937 CA7679563 |
330 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs1596314764 CA393556398 |
331 | V>G | No |
ClinGen Ensembl |
|
|
CA7679562 rs145243820 |
331 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7679561 rs776514822 |
332 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA393556371 rs1360896201 |
333 | I>T | No |
ClinGen gnomAD |
|
|
CA7679560 rs141742870 |
333 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA273837629 rs34324946 |
334 | R>K | No |
ClinGen Ensembl |
|
|
CA393556352 rs1596314751 |
335 | K>E | No |
ClinGen Ensembl |
|
|
rs760766681 CA7679559 |
335 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679558 rs773507476 |
336 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393556330 COSM1374746 rs1336424500 COSM1374747 |
337 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs768642288 CA7679554 |
339 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA393556295 rs1427974378 |
340 | M>L | No |
ClinGen gnomAD |
|
|
rs749265980 CA7679553 |
340 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190788479 CA393556278 |
341 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7679552 rs779367266 |
341 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1596314715 CA393556238 |
344 | V>G | No |
ClinGen Ensembl |
|
|
CA393556224 rs1182744968 |
346 | S>G | No |
ClinGen gnomAD |
|
|
rs781029234 CA7679549 |
347 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA393556207 rs1596314707 |
347 | Q>R | No |
ClinGen Ensembl |
|
|
CA393556194 rs1306442711 |
349 | E>K | No |
ClinGen gnomAD |
|
|
CA7679547 rs370550166 |
351 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA393556134 rs1365392111 |
352 | E>G | No |
ClinGen gnomAD |
|
|
COSM1470788 rs1452012975 COSM1470787 CA393556144 |
352 | E>K | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1314876481 CA393556090 |
354 | L>* | No |
ClinGen gnomAD |
|
|
CA273837464 rs910796551 |
354 | L>F | No |
ClinGen Ensembl |
|
|
CA393556065 rs1450898119 |
356 | K>E | No |
ClinGen gnomAD |
|
|
rs754398822 CA7679544 |
357 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393556037 rs1567020441 |
357 | D>V | No |
ClinGen Ensembl |
|
|
rs755371662 CA7679545 |
357 | D>Y | No |
ClinGen ExAC |
|
|
rs1596314673 CA393556001 |
359 | S>Y | No |
ClinGen Ensembl |
|
|
CA393555995 rs1476354271 |
360 | S>G | No |
ClinGen TOPMed |
|
|
CA7679543 rs766323050 |
361 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1168509617 CA393555965 |
361 | Q>R | No |
ClinGen TOPMed |
|
|
CA393555952 rs1461886096 |
362 | K>E | No |
ClinGen gnomAD |
|
|
CA7679542 rs143291493 |
362 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 366 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA273836628 rs1024515020 |
366 | R>G | No |
ClinGen TOPMed |
|
|
CA7679521 rs201555902 |
366 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7679522 rs201555902 |
366 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA393555636 rs1179004807 |
369 | Q>* | No |
ClinGen gnomAD |
|
|
rs555302668 CA7679518 |
370 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7679517 rs763751151 |
372 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7679516 rs745416208 |
373 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA393555514 rs1320339987 |
376 | Q>E | No |
ClinGen TOPMed |
|
|
CA7679515 rs775282612 |
377 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200759360 CA7679513 |
378 | D>E | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs149577266 CA7679514 |
378 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778096961 CA273836581 |
379 | K>R | No |
ClinGen gnomAD |
|
|
CA7679512 rs776213597 |
380 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393555395 rs1567020142 |
384 | S>N | No |
ClinGen Ensembl |
|
|
CA393555376 rs919153390 |
385 | R>G | No |
ClinGen TOPMed |
|
|
rs746609944 CA7679510 |
385 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs919153390 CA273836558 |
385 | R>W | No |
ClinGen TOPMed |
|
|
CA393555363 rs1161140362 |
386 | L>F | No |
ClinGen TOPMed |
|
|
rs745583521 CA7679506 |
387 | C>* | No |
ClinGen ESP ExAC |
|
|
rs777532471 CA7679509 |
387 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679507 rs749728188 |
388 | E>G | No |
ClinGen ExAC |
|
|
CA7679508 rs768873985 |
388 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 390 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7679504 rs780412626 |
393 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138868815 CA7679503 |
394 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393555275 rs1289384870 |
396 | E>A | No |
ClinGen TOPMed |
|
|
CA273836438 rs752935183 |
396 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA273836437 rs752935183 |
396 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 398 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751746147 CA7679499 |
398 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs764440955 CA7679498 |
399 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs762638907 CA7679497 |
401 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs764945558 CA7679495 |
402 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7679496 rs752475637 |
402 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs759507296 CA7679493 |
403 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759507296 CA393555189 |
403 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273836344 rs3743071 |
404 | Q>E | No |
ClinGen Ensembl |
|
|
CA393555153 rs1235502960 |
405 | I>T | No |
ClinGen gnomAD |
|
|
rs776731092 CA7679492 |
408 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7679491 rs765963977 |
409 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1386214405 CA393555096 |
410 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 411 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA273836304 rs1050910305 |
414 | R>K | No |
ClinGen TOPMed |
|
|
rs1596314201 CA919596161 |
423 | Q>H | No |
ClinGen Ensembl |
|
|
rs1567020037 CA393554836 |
426 | V>G | No |
ClinGen Ensembl |
|
|
CA7679486 rs775860651 |
427 | R>K | No |
ClinGen ExAC TOPMed |
|
|
CA393554827 rs775860651 |
427 | R>T | No |
ClinGen ExAC TOPMed |
|
|
CA273836258 rs913154264 |
428 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs143915483 CA7679485 |
428 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143915483 CA393554811 |
428 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1156910707 CA393554781 |
430 | K>R | No |
ClinGen TOPMed |
|
|
rs1189603504 CA393554765 |
431 | S>G | No |
ClinGen gnomAD |
|
|
rs935670313 CA273836242 |
432 | K>Q | No |
ClinGen TOPMed |
|
|
rs757321933 CA7679482 |
432 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA393554716 rs1277099110 |
433 | V>A | No |
ClinGen gnomAD |
|
|
CA273836227 rs925577514 |
434 | G>C | No |
ClinGen TOPMed |
|
|
CA393554713 rs925577514 |
434 | G>R | No |
ClinGen TOPMed |
|
|
CA7679481 COSM965285 COSM965284 rs747147820 |
435 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA393554698 rs1435735515 |
436 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA393554680 rs1250783713 |
436 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7679480 rs777724275 |
437 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs377482060 CA393554651 |
438 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7679478 rs529593986 |
438 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA393554660 rs1435515527 |
438 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA273836120 rs993415637 |
441 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1167340480 CA393554586 |
442 | M>T | No |
ClinGen gnomAD |
|
|
CA7679475 rs753797879 |
442 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1345277383 CA393554567 |
443 | L>F | No |
ClinGen TOPMed |
|
|
CA393554558 rs1391613769 |
444 | M>V | No |
ClinGen gnomAD |
|
|
CA393554519 CA273836096 rs141886056 |
445 | E>D | No |
ClinGen ESP TOPMed |
|
|
rs1483505181 CA393554502 |
446 | T>A | No |
ClinGen Ensembl |
|
|
CA7679473 rs760248211 |
446 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393554504 rs1483505181 |
446 | T>P | No |
ClinGen Ensembl |
|
|
CA393554481 rs772721099 |
447 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA393554479 rs1236049962 |
448 | Q>K | No |
ClinGen gnomAD |
|
|
rs1011311492 CA273836027 |
452 | E>* | No |
ClinGen Ensembl |
|
|
rs1443438698 CA393554386 |
453 | V>F | No |
ClinGen gnomAD |
|
|
rs761490382 CA393554356 |
454 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7679469 rs773899549 |
456 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1344655320 CA393554320 |
457 | L>F | No |
ClinGen gnomAD |
|
|
CA7679467 rs3743070 |
459 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679464 rs137870308 |
460 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA393554279 rs137870308 |
460 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7679465 rs373541654 |
460 | G>R | No |
ClinGen ESP |
|
|
CA273835934 rs1031649476 |
461 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs771365372 CA7679463 |
461 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431826139 CA393554251 |
462 | G>D | No |
ClinGen TOPMed |
|
|
CA7679462 rs369704674 |
463 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755447740 CA7679459 |
464 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 464 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393554213 rs1325948303 |
465 | P>L | No |
ClinGen TOPMed |
|
|
CA393554219 rs1455744660 |
465 | P>S | No |
ClinGen gnomAD |
|
|
CA393554199 rs779316496 |
467 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7679457 rs779316496 |
467 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA393554185 rs1372070009 |
468 | T>A | No |
ClinGen gnomAD |
|
|
rs766290976 CA7679454 |
469 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679455 rs766290976 |
469 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679453 COSM3690551 rs147961593 COSM3690550 |
470 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1274855773 CA393554154 |
471 | P>S | No |
ClinGen TOPMed |
|
|
CA393554140 rs1341065338 |
472 | S>T | No |
ClinGen TOPMed |
|
|
CA273835893 rs796576000 |
473 | S>C | No |
ClinGen TOPMed |
|
|
CA7679451 rs150264332 |
474 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7679449 rs761282002 |
475 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679446 rs544474733 |
476 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776910594 CA273835841 |
478 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs776910594 CA7679445 |
478 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7679444 rs141047224 |
479 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA273835776 rs1053455597 |
481 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs151079776 CA7679440 |
482 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772159136 CA7679441 |
482 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151079776 CA393554030 |
482 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779265567 CA7679439 |
486 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347751914 CA393553954 |
488 | R>S | No |
ClinGen gnomAD |
|
|
rs577671416 CA273835710 |
489 | L>V | No |
ClinGen Ensembl |
|
|
rs1490691107 CA393552598 |
492 | N>S | No |
ClinGen TOPMed |
|
|
CA7679422 rs773764751 |
494 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs772513595 CA7679421 |
496 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA393552515 rs1192020940 |
497 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1267729004 CA393552494 |
498 | T>P | No |
ClinGen TOPMed |
|
|
rs762395348 CA7679420 |
501 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774507906 CA7679419 |
501 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1186442736 CA393552402 |
504 | N>S | No |
ClinGen gnomAD |
|
|
CA7679418 rs768889121 |
505 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA393552320 rs1419917234 |
509 | E>G | No |
ClinGen TOPMed |
|
|
CA393552283 rs1422272703 |
511 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1309955488 COSM965281 COSM965280 CA393552250 |
514 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs769605178 CA7679415 |
516 | N>K | No |
ClinGen ExAC |
|
|
CA393552149 rs1195117746 |
521 | E>Q | No |
ClinGen gnomAD |
|
|
CA393552130 rs1302690261 |
522 | R>K | No |
ClinGen TOPMed |
|
|
rs367873681 CA7679413 |
525 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1415842531 CA393551934 |
528 | Y>C | No |
ClinGen gnomAD |
|
|
rs1188090781 CA393551920 |
529 | S>A | No |
ClinGen gnomAD |
|
|
CA7679394 rs746103188 |
529 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs746925733 CA7679391 |
535 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1437406250 CA393551845 |
538 | I>T | No |
ClinGen TOPMed |
|
|
CA393551801 rs1279857493 |
544 | I>T | No |
ClinGen gnomAD |
|
|
CA393551804 rs1274507654 |
544 | I>V | No |
ClinGen TOPMed |
|
|
CA393551787 rs1365898877 |
546 | L>P | No |
ClinGen TOPMed |
|
|
CA7679389 rs191574081 |
548 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 549 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393551769 rs1567017191 |
549 | M>V | No |
ClinGen Ensembl |
|
|
rs778500317 CA7679386 |
552 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7679387 rs747714125 |
552 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679385 rs754520384 |
554 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1410739289 CA393551713 |
555 | S>L | No |
ClinGen gnomAD |
|
|
CA7679383 rs767726812 |
557 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA393551651 rs1292774281 |
559 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs757748142 CA7679382 |
561 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA393551626 rs1351361006 |
561 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7679380 rs148428590 |
562 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7679381 rs555628707 |
562 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7679379 rs763115685 |
563 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763115685 CA393551604 |
563 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1053816001 CA273829561 |
570 | E>A | No |
ClinGen gnomAD |
|
|
rs1327692980 CA393551445 |
571 | D>Y | No |
ClinGen gnomAD |
|
|
CA393551362 rs1596310960 |
575 | V>I | No |
ClinGen Ensembl |
|
|
rs1239833859 CA393551238 |
579 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs370387544 CA7679375 |
581 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA273829539 rs976582643 |
582 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1390570050 CA393551190 |
582 | E>K | No |
ClinGen TOPMed |
|
|
rs746870720 CA7679373 |
583 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA393551065 rs1302409122 |
587 | K>R | No |
ClinGen gnomAD |
|
|
CA393551057 rs1456705822 |
588 | P>T | No |
ClinGen gnomAD |
|
|
CA393551022 rs1160808781 |
589 | H>L | No |
ClinGen gnomAD |
|
|
rs748082782 CA7679370 |
589 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1160808781 CA393551023 |
589 | H>R | No |
ClinGen gnomAD |
|
|
CA7679371 rs771937793 |
589 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046606259 CA273829514 |
592 | S>C | No |
ClinGen gnomAD |
|
|
rs1046606259 CA393550979 |
592 | S>G | No |
ClinGen gnomAD |
|
|
CA7679355 rs766646039 |
596 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679354 rs371143501 |
603 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393550227 rs1442280251 |
603 | P>L | No |
ClinGen gnomAD |
|
|
CA273827126 rs984175938 |
604 | E>* | No |
ClinGen Ensembl |
|
|
rs772924996 CA7679353 |
605 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393550183 rs1207824675 |
606 | D>G | No |
ClinGen TOPMed |
|
|
CA393550192 rs771886267 |
606 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679352 rs771886267 |
606 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774397112 CA7679350 |
609 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679349 rs768023792 |
613 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7679348 rs143151049 |
614 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs913797491 CA393550058 |
615 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs913797491 CA273827103 |
615 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7679347 rs779563838 |
616 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679346 rs769516617 |
617 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7679345 rs745543777 |
617 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA393549978 rs1427356948 |
619 | D>A | No |
ClinGen gnomAD |
|
|
CA393549925 rs1282821105 |
623 | L>F | No |
ClinGen TOPMed |
|
|
rs753110801 CA393549902 |
625 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs753110801 CA7679342 |
625 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1189755902 CA393549855 |
628 | N>K | No |
ClinGen gnomAD |
|
|
CA273827058 rs957757954 |
629 | Q>L | No |
ClinGen TOPMed |
|
|
rs957757954 CA393549842 |
629 | Q>R | No |
ClinGen TOPMed |
|
|
rs778491182 CA273827043 |
631 | V>L | No |
ClinGen Ensembl |
|
|
CA7679337 rs760847886 |
635 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393549107 rs760847886 |
635 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750665936 CA7679336 |
640 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679335 rs767279913 |
643 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679334 rs569486767 |
644 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774154833 CA7679333 |
647 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 648 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs970444065 CA273826975 |
650 | M>T | No |
ClinGen TOPMed |
|
|
CA273826978 rs1021729301 |
650 | M>V | No |
ClinGen TOPMed |
|
|
rs1287085716 CA393548742 |
653 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 656 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7679331 rs762817054 |
657 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA7679332 rs768700129 |
657 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679330 rs775096530 |
658 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA273826954 rs891804312 COSM222299 |
660 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs547997471 CA7679328 |
660 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781029381 CA7679327 |
661 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3706750 COSM3706751 rs1233633494 CA393548629 |
663 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs142452030 CA7679325 |
665 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393548611 rs1198371981 |
665 | H>R | No |
ClinGen gnomAD |
|
|
rs755446116 CA7679323 |
666 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7679322 rs749790935 |
667 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7679320 rs756237475 |
670 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs146036476 CA7679318 |
670 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756992755 CA7679317 |
671 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7679316 rs149524007 |
672 | W>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7679315 TCGA novel rs763804734 |
674 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA393548544 rs1276907978 |
675 | C>Y | No |
ClinGen TOPMed |
|
|
rs762894619 CA7679314 |
676 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs775614174 CA7679313 |
678 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679312 rs764806059 |
678 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764806059 CA273826898 |
678 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679310 rs776408611 |
680 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393548511 rs1176168843 |
681 | R>G | No |
ClinGen TOPMed |
|
|
rs1477124850 CA393548506 |
681 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7679308 rs746644370 |
682 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs774737781 CA7679307 |
682 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 683 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA273826878 rs139151755 |
684 | K>R | No |
ClinGen ESP |
|
|
CA7679305 rs749781151 |
686 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780580937 CA7679304 |
687 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA7679303 rs756184324 |
688 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393548454 rs1284284086 |
689 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA393548429 rs1342434082 |
692 | F>L | No |
ClinGen gnomAD |
|
|
rs781266509 CA7679301 |
694 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757438046 CA7679300 |
695 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319152314 CA393548387 |
699 | A>T | No |
ClinGen gnomAD |
|
|
CA7679299 rs150768376 |
699 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7679297 rs758165409 |
704 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs760656010 CA273826828 |
706 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs752674926 CA7679296 |
707 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA393548306 rs1389266721 |
711 | E>* | No |
ClinGen gnomAD |
|
|
rs1215452218 CA393548286 |
714 | L>V | No |
ClinGen TOPMed |
|
|
rs773080972 CA7679294 |
715 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679292 rs765837023 |
716 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA393548265 rs1255909517 |
716 | R>Q | No |
ClinGen gnomAD |
|
|
rs199722270 CA7679288 |
720 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393548140 rs1567015444 |
723 | H>Y | No |
ClinGen Ensembl |
|
|
rs1596309481 CA393548123 |
724 | Y>S | No |
ClinGen Ensembl |
|
|
rs1375503534 CA393548103 |
725 | S>C | No |
ClinGen TOPMed |
|
|
CA393548113 rs1197720390 |
725 | S>T | No |
ClinGen TOPMed |
|
|
CA7679287 rs775966091 |
726 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA7679285 rs565167596 |
730 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771877432 CA7679283 |
736 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429284556 CA393547879 |
736 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs771877432 CA273826764 |
736 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393547860 rs1264975978 |
737 | N>K | No |
ClinGen gnomAD |
|
|
rs1369728672 CA393547870 |
737 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs531931885 CA7679281 |
741 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1356151952 CA393547735 |
743 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1310189671 CA393547714 |
744 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs752480801 CA7679279 |
745 | R>Q | No |
ClinGen ExAC |
|
|
CA7679280 rs747927065 |
745 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393547689 rs1473950168 |
746 | N>S | No |
ClinGen gnomAD |
|
|
rs754926191 CA7679277 |
750 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679276 rs753849181 |
751 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA7679275 rs765891435 |
753 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA393547569 rs1235669727 |
755 | L>V | No |
ClinGen TOPMed |
|
|
CA7679260 rs138379500 |
759 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393546804 rs1337584382 |
760 | A>P | No |
ClinGen gnomAD |
|
|
rs1273958685 CA393546790 |
761 | V>L | No |
ClinGen gnomAD |
|
|
CA393546769 rs1227841587 |
762 | A>T | No |
ClinGen gnomAD |
|
|
CA393546755 rs1322294616 |
763 | L>F | No |
ClinGen TOPMed |
|
|
CA7679259 rs753777914 |
763 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA7679258 rs779924017 |
768 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 769 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393546649 rs1432295672 |
771 | A>T | No |
ClinGen TOPMed |
|
|
rs1037419920 CA273824456 |
771 | A>V | No |
ClinGen TOPMed |
|
|
CA393546633 rs1292725597 |
773 | W>* | No |
ClinGen gnomAD |
|
|
rs755638714 CA7679257 |
773 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1438696942 CA393546623 |
774 | C>Y | No |
ClinGen gnomAD |
|
|
CA7679254 rs138371601 |
776 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 777 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393546573 rs1160857416 |
778 | I>V | No |
ClinGen gnomAD |
|
|
CA7679252 rs200675447 |
779 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759956787 CA7679251 |
781 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA393546531 rs1267188419 |
781 | V>I | No |
ClinGen gnomAD |
|
|
rs1470259761 CA393546474 |
785 | R>* | No |
ClinGen gnomAD |
|
|
rs1470259761 CA393546475 |
785 | R>G | No |
ClinGen gnomAD |
|
|
CA393546470 rs1254145703 |
785 | R>Q | No |
ClinGen gnomAD |
|
|
CA393546440 rs1348645393 |
787 | Y>C | No |
ClinGen gnomAD |
|
|
rs1240107652 CA393546400 |
790 | K>E | No |
ClinGen gnomAD |
|
|
CA393546320 rs1231761242 |
795 | S>Y | No |
ClinGen gnomAD |
|
|
rs761047353 CA7679230 |
797 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1310706659 CA393544498 |
797 | V>M | No |
ClinGen gnomAD |
|
|
CA7679228 rs767682985 |
799 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7679226 rs774708477 |
800 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147044771 CA273819721 |
800 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1596306033 CA393544431 |
801 | V>G | No |
ClinGen Ensembl |
|
|
CA7679225 rs768931674 |
802 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393544364 rs1213301019 |
806 | M>I | No |
ClinGen gnomAD |
|
|
rs1255420614 CA393544368 |
806 | M>T | No |
ClinGen gnomAD |
|
|
rs573199110 CA7679224 |
807 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1280854138 CA393544282 |
811 | P>L | No |
ClinGen gnomAD |
|
|
COSM3420636 rs1277019710 COSM3420635 CA393544275 |
812 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 813 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775095969 CA7679223 |
814 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA393544223 rs1394889256 |
815 | G>D | No |
ClinGen TOPMed |
|
|
rs1253040244 CA393544232 |
815 | G>S | No |
ClinGen gnomAD |
|
|
rs769658587 CA7679222 |
817 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745757526 CA7679221 |
818 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138988358 CA7679220 RCV000885682 |
819 | Q>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs756758561 CA393544002 |
823 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756758561 CA7679219 |
823 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679218 rs199928887 |
824 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7679215 rs752426721 |
825 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679216 rs757940812 |
825 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756551315 CA393543932 |
826 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs756551315 CA7679213 |
826 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA273819642 rs1014402338 |
829 | F>S | No |
ClinGen Ensembl |
|
|
rs1211554578 CA393543724 |
834 | V>L | No |
ClinGen TOPMed |
|
|
CA7679209 rs575402877 |
835 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA393543687 rs1596305974 |
835 | V>I | No |
ClinGen Ensembl |
|
|
rs373742398 CA7679208 |
836 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7679207 rs764288911 |
839 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273819630 rs764288911 |
839 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252318373 CA393543528 |
839 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1196374490 CA393543513 |
840 | V>I | No |
ClinGen gnomAD |
|
|
rs750959599 CA7679206 |
841 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1371694399 CA393543276 |
846 | F>L | No |
ClinGen TOPMed |
|
|
rs1459948521 CA393543272 |
847 | K>* | No |
ClinGen TOPMed |
|
|
CA7679203 rs201639726 |
848 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1365703303 CA393543206 |
849 | W>* | No |
ClinGen TOPMed |
|
|
CA393543218 rs1337906260 |
849 | W>R | No |
ClinGen gnomAD |
|
|
CA7679202 rs776418164 |
852 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1478200742 CA393543094 |
853 | L>P | No |
ClinGen gnomAD |
|
|
rs1392892390 CA393543018 |
857 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs867173497 CA273818143 |
860 | I>V | No |
ClinGen TOPMed |
|
|
COSM3956943 COSM3956942 rs1453598428 CA393541965 |
862 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 862 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 865 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7679179 rs771470122 |
867 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs747760661 CA7679178 |
868 | F>C | No |
ClinGen ExAC |
|
|
rs1241073993 CA393541839 |
870 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs941648842 CA273818118 |
871 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 874 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768295269 CA7679176 |
875 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679175 rs748968805 |
876 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 877 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393541586 rs1306003610 |
878 | L>* | No |
ClinGen gnomAD |
|
|
rs546485218 CA7679174 |
878 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1361837831 CA393541566 |
879 | Q>P | No |
ClinGen gnomAD |
|
|
CA7679172 rs752086483 |
881 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA393541512 rs752086483 |
881 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679169 rs752767804 |
884 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373470259 CA393541404 |
885 | F>Y | No |
ClinGen gnomAD |
|
|
CA7679166 rs754100285 |
888 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs766140467 CA7679165 |
889 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679164 rs760521035 |
889 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760521035 CA393541338 |
889 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273818064 rs760521035 |
889 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393541212 rs1461833688 |
892 | T>I | No |
ClinGen TOPMed |
|
|
rs773017981 CA7679163 |
893 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7679162 rs767421743 |
893 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767421743 CA273818051 |
893 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114709718 CA273818021 |
894 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7679161 rs114709718 |
894 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA273818007 rs1019193934 |
895 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs773860917 CA7679160 |
895 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768080858 CA7679159 |
896 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA393541127 rs1411728133 |
897 | D>G | No |
ClinGen TOPMed |
|
|
CA393541124 rs1411728133 |
897 | D>V | No |
ClinGen TOPMed |
|
|
CA393541109 rs1322531127 |
898 | A>V | No |
ClinGen Ensembl |
|
|
rs1292744017 CA393541103 |
899 | R>G | No |
ClinGen gnomAD |
|
|
rs1375425022 CA393540484 |
902 | I>V | No |
ClinGen TOPMed |
|
|
rs1315340823 CA393540448 |
904 | I>V | No |
ClinGen gnomAD |
|
|
COSM228181 rs1304645609 CA393540422 |
905 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA393540373 rs1336946590 |
908 | D>G | No |
ClinGen TOPMed |
|
|
rs772365105 CA7679134 |
908 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772365105 CA393540378 |
908 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779346753 CA7679132 |
911 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293591523 CA393540292 |
913 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1293591523 CA393540285 |
913 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA393540287 rs1293591523 |
913 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs749299571 CA7679131 |
914 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA7679129 rs780120481 |
914 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs749299571 CA7679130 COSM1129107 |
914 | L>V | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs756278478 CA7679127 |
915 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373938266 CA273815404 |
915 | R>L | No |
ClinGen ESP TOPMed |
|
|
rs757048303 CA7679124 |
918 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679125 COSM1374740 rs781005982 |
918 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1596303832 CA393540150 |
919 | N>T | No |
ClinGen Ensembl |
|
|
CA393540135 rs1268220045 |
920 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7679123 COSM458956 rs200408968 COSM86571 |
920 | R>Q | cervix ovary upper_aerodigestive_tract NS large_intestine urinary_tract prostate haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7679122 rs199780820 |
921 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374617939 CA7679120 |
921 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199780820 CA7679121 |
921 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145378509 CA7679118 |
922 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776196820 CA7679117 |
922 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs772473489 CA7679116 |
923 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA393540113 rs1232067618 |
923 | Y>H | No |
ClinGen gnomAD |
|
|
CA393540088 rs1301410777 |
926 | E>K | No |
ClinGen gnomAD |
|
|
CA273815341 rs947593243 |
928 | V>A | No |
ClinGen TOPMed |
|
|
CA7679114 rs774702809 |
929 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679115 rs762151053 |
929 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 931 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7679113 rs367930643 |
933 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1419861833 CA393540031 |
933 | T>S | No |
ClinGen gnomAD |
|
|
rs1437181160 CA393540027 |
934 | E>K | No |
ClinGen gnomAD |
|
|
CA7679111 rs780065774 |
936 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7679110 rs769899951 |
939 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7679109 rs746078243 |
939 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769899951 CA393539994 |
939 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs781325040 CA7679108 |
942 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA7679106 rs751243437 |
944 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7679105 rs144284088 |
944 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7679103 rs752725824 |
946 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7679104 rs758375621 |
946 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1334484616 CA393539933 |
949 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1310652282 CA393539930 |
949 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7679102 rs764820162 |
950 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393539914 rs1567009514 |
951 | D>E | No |
ClinGen Ensembl |
|
|
CA393539886 rs1236380215 |
956 | V>I | No |
ClinGen TOPMed |
|
|
rs753524338 CA7679101 |
958 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273815268 rs938662776 |
959 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1374918100 CA393539831 |
963 | T>N | No |
ClinGen gnomAD |
|
|
CA393539823 rs1252777335 |
964 | T>W | No |
ClinGen TOPMed |
No associated diseases with Q9UPU7
No regional properties for Q9UPU7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9UPU7 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
27 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A0A087X1G2 | TBC1D3K | TBC1 domain family member 3K | Homo sapiens (Human) | PR |
| B9A6J9 | TBC1D3L | TBC1 domain family member 3L | Homo sapiens (Human) | PR |
| Q8WUA7 | TBC1D22A | TBC1 domain family member 22A | Homo sapiens (Human) | PR |
| Q8IZP1 | TBC1D3 | TBC1 domain family member 3 | Homo sapiens (Human) | PR |
| Q6IPX1 | TBC1D3C | TBC1 domain family member 3C | Homo sapiens (Human) | PR |
| A0A087WVF3 | TBC1D3D | TBC1 domain family member 3D | Homo sapiens (Human) | PR |
| A6NER0 | TBC1D3F | TBC1 domain family member 3F | Homo sapiens (Human) | PR |
| A0A087WXS9 | TBC1D3I | TBC1 domain family member 3I | Homo sapiens (Human) | PR |
| Q6DHY5 | TBC1D3G | TBC1 domain family member 3G | Homo sapiens (Human) | PR |
| A0A087X179 | TBC1D3E | TBC1 domain family member 3E | Homo sapiens (Human) | PR |
| P0C7X1 | TBC1D3H | TBC1 domain family member 3H | Homo sapiens (Human) | PR |
| A6NDS4 | TBC1D3B | TBC1 domain family member 3B | Homo sapiens (Human) | PR |
| Q8IV04 | TBC1D10C | Carabin | Homo sapiens (Human) | PR |
| Q5TC63 | GRTP1 | Growth hormone-regulated TBC protein 1 | Homo sapiens (Human) | PR |
| O60343 | TBC1D4 | TBC1 domain family member 4 | Homo sapiens (Human) | PR |
| Q86TI0 | TBC1D1 | TBC1 domain family member 1 | Homo sapiens (Human) | PR |
| O60447 | EVI5 | Ecotropic viral integration site 5 protein homolog | Homo sapiens (Human) | PR |
| Q3MII6 | TBC1D25 | TBC1 domain family member 25 | Homo sapiens (Human) | PR |
| Q2NKQ1 | SGSM1 | Small G protein signaling modulator 1 | Homo sapiens (Human) | PR |
| Q9HA65 | TBC1D17 | TBC1 domain family member 17 | Homo sapiens (Human) | PR |
| Q8TC07 | TBC1D15 | TBC1 domain family member 15 | Homo sapiens (Human) | PR |
| O95759 | TBC1D8 | TBC1 domain family member 8 | Homo sapiens (Human) | PR |
| Q0IIM8 | TBC1D8B | TBC1 domain family member 8B | Homo sapiens (Human) | PR |
| Q66K14 | TBC1D9B | TBC1 domain family member 9B | Homo sapiens (Human) | PR |
| Q6ZT07 | TBC1D9 | TBC1 domain family member 9 | Homo sapiens (Human) | PR |
| Q8TEA7 | TBCK | TBC domain-containing protein kinase-like protein | Homo sapiens (Human) | PR |
| Q9D3N8 | Grtp1 | Growth hormone-regulated TBC protein 1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPGAGARAEE | GGGGGEGAAQ | GAAAEPGAGP | AREPARLCGY | LQKLSGKGPL | RGYRSRWFVF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DARRCYLYYF | KSPQDALPLG | HLDIADACFS | YQGPDEAAEP | GTEPPAHFQV | HSAGAVTVLK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| APNRQLMTYW | LQELQQKRWE | YCNSLDMVKW | DSRTSPTPGD | FPKGLVARDN | TDLIYPHPNA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SAEKARNVLA | VETVPGELVG | EQAANQPAPG | HPNSINFYSL | KQWGNELKNS | MSSFRPGRGH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NDSRRTVFYT | NEEWELLDPT | PKDLEESIVQ | EEKKKLTPEG | NKGVTGSGFP | FDFGRNPYKG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KRPLKDIIGS | YKNRHSSGDP | SSEGTSGSGS | VSIRKPASEM | QLQVQSQQEE | LEQLKKDLSS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QKELVRLLQQ | TVRSSQYDKY | FTSSRLCEGV | PKDTLELLHQ | KDDQILGLTS | QLERFSLEKE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SLQQEVRTLK | SKVGELNEQL | GMLMETIQAK | DEVIIKLSEG | EGNGPPPTVA | PSSPSVVPVA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RDQLELDRLK | DNLQGYKTQN | KFLNKEILEL | SALRRNAERR | ERDLMAKYSS | LEAKLCQIES |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KYLILLQEMK | TPVCSEDQGP | TREVIAQLLE | DALQVESQEQ | PEQAFVKPHL | VSEYDIYGFR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TVPEDDEEEK | LVAKVRALDL | KTLYLTENQE | VSTGVKWENY | FASTVNREMM | CSPELKNLIR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AGIPHEHRSK | VWKWCVDRHT | RKFKDNTEPG | HFQTLLQKAL | EKQNPASKQI | ELDLLRTLPN |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NKHYSCPTSE | GIQKLRNVLL | AFSWRNPDIG | YCQGLNRLVA | VALLYLEQED | AFWCLVTIVE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VFMPRDYYTK | TLLGSQVDQR | VFRDLMSEKL | PRLHGHFEQY | KVDYTLITFN | WFLVVFVDSV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VSDILFKIWD | SFLYEGPKVI | FRFALALFKY | KEEEILKLQD | SMSIFKYLRY | FTRTILDARK |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LISISFGDLN | PFPLRQIRNR | RAYHLEKVRL | ELTELEAIRE | DFLRERDTSP | DKGELVSDEE |
| EDT |