Q5TB30
PR
Gene name |
DEPDC1 (DEPDC1A) |
Protein name |
DEP domain-containing protein 1A |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55635 |
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
2 structures for Q5TB30
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2YSR | NMR | - | A | 11-108 | PDB |
| AF-Q5TB30-F1 | Predicted | AlphaFoldDB |
651 variants for Q5TB30
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1571197028 RCV000984784 CA340760291 |
487 | S>T | Aganglionic megacolon [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1350071843 CA340743187 |
2 | E>D | No |
ClinGen gnomAD |
|
|
rs1208356411 CA340743213 |
2 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs746363802 CA903287 |
4 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA903286 rs781714195 |
5 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781714195 CA340743125 |
5 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571209448 CA340743107 |
5 | G>V | No |
ClinGen Ensembl |
|
|
CA903282 rs149140756 |
7 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144782062 CA903281 |
8 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1378241149 CA340743053 |
8 | P>T | No |
ClinGen gnomAD |
|
|
CA340743032 CA340743033 rs1375481304 |
9 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1474621677 CA340743006 |
10 | P>L | No |
ClinGen TOPMed |
|
|
CA340743014 rs1423854298 |
10 | P>S | No |
ClinGen TOPMed |
|
|
CA340742971 rs1157555988 |
12 | R>P | No |
ClinGen gnomAD |
|
|
rs147898646 CA903280 |
14 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA903279 rs764629472 |
15 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 16 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444877573 CA340742171 |
17 | W>R | No |
ClinGen TOPMed |
|
|
rs777967692 CA903263 |
25 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs371164383 CA903262 |
25 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA903261 rs747741469 |
26 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 28 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs979969965 CA23565593 |
29 | P>A | No |
ClinGen gnomAD |
|
|
CA23565588 rs968445465 |
29 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA903259 rs375248405 |
31 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1295716207 CA340741918 |
32 | K>R | No |
ClinGen gnomAD |
|
|
CA903258 rs753410132 |
33 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs780087257 CA903257 |
34 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA903256 rs755977135 |
35 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1463327977 CA340741842 |
36 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1425658931 CA340741806 |
38 | K>* | No |
ClinGen TOPMed |
|
|
rs750426529 CA903255 |
38 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs200340643 CA903253 |
40 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767207689 CA903254 |
40 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs752796162 CA903252 |
42 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765458728 CA340741716 |
43 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs765458728 CA903251 |
43 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA903250 rs368748783 |
45 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA903249 rs776724301 |
46 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340741671 rs1468709895 |
46 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 49 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761063693 CA903247 |
54 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 55 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340741541 rs1251567991 |
57 | L>* | No |
ClinGen gnomAD |
|
|
rs1231880015 CA340741527 |
58 | R>K | No |
ClinGen gnomAD |
|
|
rs1557623913 CA340741507 |
59 | N>S | No |
ClinGen Ensembl |
|
|
rs1571207251 CA340741494 |
60 | N>D | No |
ClinGen Ensembl |
|
|
CA340741487 rs1328905647 |
60 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 61 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 61 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA903246 rs773826271 |
61 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA903245 rs772316167 |
62 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA23565492 rs969185373 |
64 | G>V | No |
ClinGen TOPMed |
|
|
CA340741383 rs1331123228 |
66 | E>* | No |
ClinGen gnomAD |
|
|
rs1408623138 CA340741373 |
66 | E>V | No |
ClinGen gnomAD |
|
|
rs1284415828 CA340741335 |
68 | T>I | No |
ClinGen TOPMed |
|
|
rs778648057 CA903243 |
69 | R>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 70 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465596711 CA340741253 |
73 | I>V | No |
ClinGen gnomAD |
|
|
CA340741200 rs1441332612 |
75 | L>Q | No |
ClinGen TOPMed |
|
|
rs1250774289 CA340741144 |
79 | F>L | No |
ClinGen gnomAD |
|
|
rs1245488362 CA340741126 |
80 | L>V | No |
ClinGen TOPMed |
|
|
CA903238 rs539974543 |
81 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23565443 rs960930895 |
83 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA340741077 COSM911916 COSM911917 rs1342177150 |
83 | H>R | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA23565442 rs887881417 |
87 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 87 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378791897 CA340741018 |
88 | I>F | No |
ClinGen TOPMed |
|
|
CA340741010 rs1349201679 |
88 | I>M | No |
ClinGen gnomAD |
|
|
CA340741015 rs1237079769 |
88 | I>N | No |
ClinGen gnomAD |
|
|
rs750326933 CA903237 COSM1185482 COSM1185483 |
90 | G>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA340740985 rs999564447 |
91 | R>S | No |
ClinGen TOPMed |
|
|
CA340740972 rs1557623805 |
93 | G>A | No |
ClinGen Ensembl |
|
|
CA340740951 rs1337965468 |
96 | N>S | No |
ClinGen gnomAD |
|
|
rs1395678207 CA340740945 |
97 | V>A | No |
ClinGen gnomAD |
|
|
rs756944044 CA903235 |
97 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA340740930 rs762606841 |
99 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA23565390 rs762606841 |
99 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs370265297 CA903232 |
100 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1379606439 CA340740923 |
100 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA903230 rs754106335 |
102 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA23562654 rs917646603 |
105 | R>S | No |
ClinGen gnomAD |
|
|
rs1453429481 CA340740739 |
106 | F>V | No |
ClinGen TOPMed |
|
|
rs1287342621 CA340740723 |
108 | A>S | No |
ClinGen TOPMed |
|
|
CA903214 rs777519374 |
109 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs758246471 CA340740711 |
110 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM911915 rs758246471 CA903213 COSM911914 |
110 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA903210 rs756086418 |
112 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1449257387 CA340740654 |
116 | P>L | No |
ClinGen gnomAD |
|
|
CA23562627 rs1056159165 |
116 | P>S | No |
ClinGen Ensembl |
|
|
CA903208 rs201872801 |
117 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA903207 rs187939587 |
117 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564644392 CA23562611 |
118 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 120 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340740615 rs1571203510 |
120 | P>T | No |
ClinGen Ensembl |
|
|
rs373724969 CA903203 |
123 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340740568 rs1194726919 |
124 | K>* | No |
ClinGen gnomAD |
|
| TCGA novel | 125 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775225407 CA903202 |
127 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340740509 rs1345680747 |
127 | I>T | No |
ClinGen gnomAD |
|
|
rs775225407 CA340740517 |
127 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340740498 rs1335249564 |
128 | E>G | No |
ClinGen TOPMed |
|
|
rs1322888429 CA340740506 |
128 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1322888429 CA340740504 |
128 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 130 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459668985 CA340740477 |
130 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA903200 rs745331062 |
136 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA340740412 rs1416713823 |
139 | K>E | No |
ClinGen gnomAD |
|
|
rs770394914 CA903198 |
141 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA340740397 rs1475480456 |
141 | R>Q | No |
ClinGen gnomAD |
|
|
rs1451379349 CA340740390 |
142 | N>S | No |
ClinGen gnomAD |
|
|
CA903197 rs746934060 |
144 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA903196 rs777754199 |
145 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758121846 CA903195 |
145 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1275471676 CA340740367 |
146 | R>K | No |
ClinGen gnomAD |
|
|
rs973977010 CA23562519 |
149 | K>N | No |
ClinGen Ensembl |
|
|
rs962574042 CA23562512 |
150 | R>S | No |
ClinGen Ensembl |
|
|
rs747945746 CA903194 |
151 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA903193 rs780086505 |
152 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA903192 rs756386077 |
154 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA903191 rs183207194 |
156 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA903190 rs781321887 |
157 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1274119109 CA340740298 |
157 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA23562268 rs942147338 |
158 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA340740208 rs942147338 |
158 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs768395993 CA903173 |
160 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340740195 rs1171175301 |
160 | G>D | No |
ClinGen gnomAD |
|
|
rs1171175301 CA340740193 |
160 | G>V | No |
ClinGen gnomAD |
|
|
rs781279525 CA903171 |
161 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340740185 rs1174881322 |
162 | K>E | No |
ClinGen gnomAD |
|
|
CA340740179 rs1418805869 |
162 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA340740170 rs757359080 |
164 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs757359080 CA903170 |
164 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1442638334 CA340740161 |
165 | H>Y | No |
ClinGen TOPMed |
|
|
CA903168 rs751712482 |
167 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs778384578 CA903167 |
169 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA903166 rs377760708 |
171 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369526019 CA23562241 |
171 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs917915191 CA23562231 |
174 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs988070338 CA23562230 |
175 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA903165 rs77125738 |
176 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA903161 rs766033929 |
177 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1375537576 CA340740077 |
177 | D>G | No |
ClinGen gnomAD |
|
|
CA903162 rs753462876 |
177 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA903163 rs753462876 |
177 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA903160 rs760126114 |
180 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1214568504 CA340740059 |
180 | E>K | No |
ClinGen TOPMed |
|
|
rs1161710033 CA340740048 |
181 | L>R | No |
ClinGen gnomAD |
|
|
rs772735987 CA903159 |
182 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs146204786 CA23562205 |
182 | S>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1186156237 CA340740037 |
183 | Q>R | No |
ClinGen gnomAD |
|
|
rs933822857 CA23562200 |
186 | V>G | No |
ClinGen Ensembl |
|
|
rs771608291 CA903158 |
188 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA903157 rs761786406 |
189 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA340739989 rs1188310481 |
190 | W>* | No |
ClinGen TOPMed |
|
|
rs1484838322 CA340739973 |
192 | Y>S | No |
ClinGen gnomAD |
|
| TCGA novel | 195 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 196 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340739918 rs1571202572 |
199 | Q>K | No |
ClinGen Ensembl |
|
|
rs763964494 CA903135 |
199 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA903134 rs762769250 |
200 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs775395440 CA903133 |
201 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 202 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340739891 rs1378844799 |
203 | G>C | No |
ClinGen TOPMed |
|
|
CA23561813 rs11586041 |
203 | G>D | No |
ClinGen Ensembl |
|
|
CA340739888 rs1298301788 |
204 | V>M | No |
ClinGen gnomAD |
|
|
CA340739880 rs1370647965 |
205 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1557621272 CA340739872 |
206 | S>C | No |
ClinGen Ensembl |
|
|
rs772122463 CA903129 |
208 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 208 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs776293996 | 209 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1412019472 CA340739850 |
209 | E>K | No |
ClinGen TOPMed |
|
|
CA340739826 rs1195708312 |
210 | V>G | No |
ClinGen gnomAD |
|
|
CA903127 rs748189380 |
211 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23561777 rs201330116 |
212 | N>H | No |
ClinGen Ensembl |
|
|
CA903126 rs779426408 |
212 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755467472 CA903125 |
213 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453746810 CA340739794 |
214 | K>Q | No |
ClinGen gnomAD |
|
|
CA340739757 rs1328105892 |
216 | V>L | No |
ClinGen TOPMed |
|
|
rs1468802722 CA340739690 |
221 | I>V | No |
ClinGen gnomAD |
|
|
CA903122 rs771984101 |
224 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748026444 CA903120 |
225 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA903121 rs750014046 |
225 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA23561752 rs74319252 |
226 | A>S | No |
ClinGen Ensembl |
|
|
rs1251401900 CA340739590 |
227 | N>S | No |
ClinGen gnomAD |
|
|
rs1015974234 CA23561747 |
228 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1301967715 CA340739565 |
229 | S>N | No |
ClinGen gnomAD |
|
|
rs1571202396 CA340739559 |
230 | K>Q | No |
ClinGen Ensembl |
|
|
CA903118 rs369570198 |
231 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA903117 rs201112841 |
231 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs993090626 CA23561738 |
232 | G>E | No |
ClinGen Ensembl |
|
|
CA903116 rs762781784 |
232 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA903115 rs775630346 |
233 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs765122647 CA903114 |
234 | V>A | No |
ClinGen ExAC gnomAD |
|
|
COSM333623 rs759407253 COSM333624 CA903112 |
235 | I>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1308692407 CA340739506 |
235 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs773506539 CA903111 |
236 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1191780235 CA340739452 |
239 | K>N | No |
ClinGen TOPMed |
|
|
rs1034522611 CA23561705 |
239 | K>T | No |
ClinGen TOPMed |
|
|
rs1454510305 CA340739439 |
240 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs765276263 CA903093 |
242 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM339746 CA903092 COSM339745 rs759352264 |
243 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM1249980 CA903091 rs368546172 COSM1249979 |
244 | P>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs766236415 CA903090 |
245 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs761917884 CA903089 |
246 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs768612397 CA903087 |
249 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA340739198 rs1268942221 |
250 | A>V | No |
ClinGen gnomAD |
|
|
rs1353604316 CA340739176 |
253 | C>F | No |
ClinGen gnomAD |
|
|
CA340739180 rs1232909409 |
253 | C>S | No |
ClinGen gnomAD |
|
|
rs374393077 CA903086 |
255 | A>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs924220787 CA23607089 |
258 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 258 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751675675 CA903060 |
260 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340762694 rs1557619337 |
261 | N>K | No |
ClinGen Ensembl |
|
|
rs764400057 CA903059 |
262 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA340762684 rs762981653 CA903058 |
263 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA903056 rs370157932 |
263 | M>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA903057 rs370157932 |
263 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs982357372 CA23607041 |
266 | P>Q | No |
ClinGen Ensembl |
|
|
CA903055 rs760026325 |
266 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA903054 rs777263970 |
267 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs777263970 CA23607020 |
267 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA903052 rs762710239 |
268 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA903050 rs202040488 |
269 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542677823 CA340762646 |
269 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA903051 rs542677823 |
269 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771877979 CA903049 |
270 | G>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1296668 COSM1296667 rs1332462539 CA340762629 |
272 | E>Q | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs747838010 CA903048 |
273 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23606949 rs929802526 |
273 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA903047 rs778543779 |
274 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA23606926 rs61740628 |
278 | T>P | No |
ClinGen Ensembl |
|
|
rs199589135 CA340762551 |
280 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199589135 CA903045 |
280 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA903044 rs780044038 |
280 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs755819017 CA903043 |
282 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs750265090 CA340762502 |
284 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs767256978 CA903041 |
284 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA903038 rs765301047 |
285 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA903039 rs554154600 |
285 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs554154600 CA903040 |
285 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 286 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs926987884 CA23606902 |
288 | E>K | No |
ClinGen TOPMed |
|
|
CA23606900 rs973122303 |
289 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs776948006 CA903036 |
290 | L>I | No |
ClinGen ExAC |
|
|
CA903035 rs141812121 |
291 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs535285844 CA903034 |
292 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA903033 rs200052582 |
293 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs912993263 CA23606838 |
297 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs370508950 CA903031 |
297 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1480417348 CA340762315 |
299 | F>L | No |
ClinGen gnomAD |
|
|
CA902995 rs201449469 |
308 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA902993 rs762654774 |
309 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs762654774 CA902994 |
309 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA902992 rs775075655 |
310 | T>K | No |
ClinGen ExAC |
|
|
CA340762036 rs1369153098 |
312 | S>A | No |
ClinGen gnomAD |
|
|
CA340762018 rs1169609033 |
314 | R>S | No |
ClinGen gnomAD |
|
|
rs758984738 CA902990 |
315 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340762014 rs1275721485 |
315 | S>C | No |
ClinGen TOPMed |
|
|
rs758984738 CA340762016 |
315 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340762009 rs1392003427 |
316 | S>N | No |
ClinGen gnomAD |
|
|
rs1188954622 CA340762006 |
316 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1571197793 CA340761997 |
318 | I>V | No |
ClinGen Ensembl |
|
|
CA902987 rs563988599 |
319 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA902986 rs563988599 |
319 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs777517396 CA902985 |
322 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs996170214 CA23606216 |
327 | S>F | No |
ClinGen Ensembl |
|
|
rs898719565 CA23606211 |
329 | K>E | No |
ClinGen Ensembl |
|
|
CA902984 rs771817464 |
329 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1340626714 CA340761899 |
332 | H>P | No |
ClinGen gnomAD |
|
|
rs1571197750 CA340761891 |
333 | L>S | No |
ClinGen Ensembl |
|
|
rs1370738985 CA340761880 |
334 | N>K | No |
ClinGen gnomAD |
|
|
rs749520646 CA902983 |
336 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340761868 rs1321778157 |
336 | L>S | No |
ClinGen gnomAD |
|
|
rs780143784 CA902982 |
339 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA902981 rs756159027 |
340 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA902980 rs750552604 |
342 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447494788 CA340761819 |
343 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 343 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340761818 rs1169146157 |
344 | C>S | No |
ClinGen gnomAD |
|
|
CA902979 rs781462753 |
345 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752170095 CA902977 |
346 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA902978 rs757817887 |
346 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA902976 rs764516175 |
347 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA902975 rs763234475 |
347 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1390488072 CA340761795 |
348 | S>R | No |
ClinGen TOPMed |
|
|
CA902973 rs752340706 |
349 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320537317 CA340761761 |
353 | E>G | No |
ClinGen TOPMed |
|
|
rs999866879 CA23606151 |
353 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1347565266 CA340761750 |
354 | K>N | No |
ClinGen gnomAD |
|
| rs760464782 | 355 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 356 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764822761 CA902968 |
358 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs759010184 CA902966 |
359 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA340761690 rs1306641377 |
360 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776084921 CA902965 |
360 | D>Y | No |
ClinGen ExAC |
|
| TCGA novel | 362 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372503931 CA340761650 |
363 | E>D | No |
ClinGen gnomAD |
|
|
rs1226869016 CA340761646 |
364 | R>G | No |
ClinGen TOPMed |
|
|
rs760588329 CA902962 |
364 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 364 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA902961 rs373920230 |
366 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771832382 CA902960 |
366 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs369401758 CA902959 |
367 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs181108912 CA902957 |
371 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA902956 rs746143426 |
373 | Q>R | No |
ClinGen ExAC |
|
|
rs537683509 CA23606068 |
374 | E>G | No |
ClinGen 1000Genomes TOPMed |
|
|
rs781407682 CA902955 |
375 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340761460 rs1251950289 |
377 | A>V | No |
ClinGen gnomAD |
|
|
CA340761452 rs1186657598 |
378 | K>R | No |
ClinGen gnomAD |
|
|
CA902954 rs757479847 |
380 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404283805 CA340761409 |
381 | Q>K | No |
ClinGen gnomAD |
|
|
rs747456457 CA902953 |
382 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753037353 CA902950 |
385 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1157774036 CA902948 |
386 | R>S | No |
ClinGen TOPMed |
|
|
rs754599557 CA902945 |
388 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA902944 COSM1194205 rs375196214 |
389 | R>I | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA340761300 rs375196214 |
389 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs3790480 CA902943 |
390 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA902942 rs372011076 |
391 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1414753786 CA340761232 |
394 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA340761190 rs1384008353 |
397 | G>E | No |
ClinGen gnomAD |
|
|
CA340761184 rs1156459233 |
398 | G>R | No |
ClinGen gnomAD |
|
|
rs1458463668 CA340761132 |
401 | H>P | No |
ClinGen gnomAD |
|
|
rs1286235155 CA340761135 |
401 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 403 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA902940 rs3790479 VAR_059798 |
404 | I>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA340761092 rs1412322704 |
404 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA902938 rs375034573 |
405 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1236163885 CA340761080 |
405 | G>R | No |
ClinGen gnomAD |
|
|
CA340761036 rs1261510361 |
408 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA23605978 rs367719254 |
409 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA902936 rs746083765 |
409 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776999335 CA902935 |
411 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs778306085 CA902932 |
414 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567291602 CA902933 |
414 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA902931 rs758803392 |
418 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs189848362 CA23605917 |
418 | P>S | No |
ClinGen 1000Genomes |
|
| TCGA novel | 418 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340760885 rs1409181911 |
419 | R>K | No |
ClinGen TOPMed |
|
|
rs1458338849 CA340760873 |
420 | C>R | No |
ClinGen TOPMed |
|
|
rs779130957 CA902929 |
421 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs755399356 CA902928 |
422 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs755572709 CA902925 |
423 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1165465511 CA340760789 |
426 | I>S | No |
ClinGen gnomAD |
|
|
CA340760786 rs1165465511 |
426 | I>T | No |
ClinGen gnomAD |
|
|
rs749930852 CA902924 |
426 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA902923 rs767093012 |
428 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA340760757 rs1390154335 |
429 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 430 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402113488 CA340760734 |
431 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 433 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187048866 CA340760694 |
434 | S>R | No |
ClinGen gnomAD |
|
|
CA902922 rs761644198 |
439 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs374450492 CA902921 |
442 | H>Y | No |
ClinGen ESP ExAC |
|
|
rs762858964 CA902919 |
446 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1031605932 CA23605778 |
448 | I>M | No |
ClinGen TOPMed |
|
|
rs1295402007 CA340760559 |
448 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA340760562 rs1338656200 |
448 | I>V | No |
ClinGen gnomAD |
|
|
CA902917 rs771311771 |
449 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA340760536 rs1255424370 |
452 | N>H | No |
ClinGen TOPMed |
|
|
rs1365677564 CA340760532 |
452 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 455 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 456 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA902915 rs773140440 |
456 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1198615001 | 457 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA23605739 rs1025103044 |
459 | S>C | No |
ClinGen Ensembl |
|
|
rs779393166 CA902912 |
461 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA902911 rs185196005 |
462 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA902910 rs749675344 |
462 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs779641961 CA902909 |
463 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs372848290 CA902908 |
463 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191025445 CA340760440 |
465 | F>L | No |
ClinGen gnomAD |
|
|
CA340760430 rs1477151684 |
467 | L>W | No |
ClinGen gnomAD |
|
|
CA340760423 rs1248736508 |
468 | N>T | No |
ClinGen gnomAD |
|
| TCGA novel | 470 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1482773876 CA340760396 |
472 | E>V | No |
ClinGen gnomAD |
|
|
CA902907 rs750148631 |
473 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1302375635 CA340760338 |
480 | S>G | No |
ClinGen gnomAD |
|
|
CA340760333 rs1217311359 |
480 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs780563700 CA902906 |
484 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340760299 rs1347396012 |
485 | R>S | No |
ClinGen gnomAD |
|
|
rs1181910235 CA340760284 COSM682300 |
488 | T>A | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1275140625 CA340760266 |
491 | V>I | No |
ClinGen gnomAD |
|
|
CA23605733 rs890621786 |
493 | D>N | No |
ClinGen TOPMed |
|
|
rs1051900351 CA340760233 |
495 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA23605723 rs1051900351 |
495 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA340760230 rs1348096978 |
496 | E>K | No |
ClinGen gnomAD |
|
|
rs756797784 CA902905 |
497 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs756797784 CA340760222 |
497 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs751396833 CA902904 |
498 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA902903 rs762798936 |
498 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA902902 rs762798936 |
498 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA902901 rs752513468 |
499 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1359562345 CA340760207 |
499 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1359562345 CA340760208 |
499 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs765176160 CA902900 |
500 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765176160 CA340760204 |
500 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 501 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA902899 rs760791123 |
501 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 507 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472277841 CA340760148 |
508 | C>S | No |
ClinGen gnomAD |
|
|
rs771976832 CA902897 |
509 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340760136 rs1184487574 |
509 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340760131 rs761962437 |
510 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA902896 rs761962437 |
510 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774790260 CA902895 |
512 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs774790260 CA340760118 |
512 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs368217281 CA902893 |
519 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340760064 rs1326692240 |
520 | R>K | No |
ClinGen gnomAD |
|
|
CA340760051 rs1409967792 |
522 | N>D | No |
ClinGen gnomAD |
|
|
rs780374483 CA902892 |
523 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs757425017 CA23605616 |
524 | Y>C | No |
ClinGen Ensembl |
|
|
rs1446201761 CA340760029 |
525 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA902889 rs780912014 |
526 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA902890 rs745445423 |
526 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217507724 CA340760012 |
527 | T>I | No |
ClinGen gnomAD |
|
|
rs1201704248 CA340760017 |
527 | T>P | No |
ClinGen TOPMed |
|
|
rs756676152 CA340760008 |
528 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA902888 rs756676152 |
528 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751114395 CA902887 |
531 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA340759986 rs1557617952 |
532 | I>V | No |
ClinGen Ensembl |
|
|
CA340759979 rs1449308537 |
533 | I>F | No |
ClinGen TOPMed |
|
|
rs549058441 CA902885 |
534 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs949436702 CA23605557 |
538 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 540 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA902882 rs752736293 |
541 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 542 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340759904 rs1237869094 |
544 | S>G | No |
ClinGen gnomAD |
|
|
rs1388732003 CA340759902 |
544 | S>N | No |
ClinGen TOPMed |
|
|
rs1326629985 CA340759894 |
545 | V>L | No |
ClinGen gnomAD |
|
|
rs1326629985 CA340759895 |
545 | V>M | No |
ClinGen gnomAD |
|
|
rs750551117 CA902879 |
546 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA902880 rs754805123 |
546 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs767801983 CA902878 |
547 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA902876 rs202089723 |
549 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1278369763 CA340759841 |
550 | E>K | No |
ClinGen gnomAD |
|
|
CA902875 rs200804950 |
552 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs560168786 CA902873 |
554 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA902872 rs769997866 |
555 | E>D | No |
ClinGen ExAC |
|
| TCGA novel | 559 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343988251 CA340759681 |
563 | R>I | No |
ClinGen TOPMed |
|
|
rs746267128 CA340759660 |
565 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746267128 CA902871 |
565 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340759654 rs1264469911 |
565 | C>Y | No |
ClinGen TOPMed |
|
|
CA23605471 rs925228266 |
566 | K>R | No |
ClinGen TOPMed |
|
|
rs1162547257 CA340759570 |
568 | T>I | No |
ClinGen gnomAD |
|
|
rs746712086 CA902868 |
569 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA902867 rs777412786 |
570 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA340759474 rs1187697681 |
572 | S>* | No |
ClinGen gnomAD |
|
|
CA340759497 rs1464862134 |
572 | S>A | No |
ClinGen TOPMed |
|
|
CA340759439 rs1250338554 |
573 | E>A | No |
ClinGen TOPMed |
|
|
rs758044681 CA902866 |
573 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs917764920 CA23605440 |
574 | N>D | No |
ClinGen TOPMed |
|
|
CA23605417 rs764099361 |
578 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 578 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374973337 CA340759226 |
582 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA902864 rs374973337 |
582 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA902863 rs754677588 |
583 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA340759163 rs1324013206 |
584 | T>I | No |
ClinGen gnomAD |
|
|
CA340759172 rs1223192425 |
584 | T>P | No |
ClinGen gnomAD |
|
|
CA340759153 rs1165764920 |
585 | G>S | No |
ClinGen TOPMed |
|
|
rs1228039566 CA340759104 |
587 | Q>E | No |
ClinGen gnomAD |
|
|
rs1277169985 CA340758952 |
589 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 591 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330436314 CA340758893 |
591 | Q>P | No |
ClinGen TOPMed |
|
|
CA340758864 rs1435109141 |
592 | P>R | No |
ClinGen TOPMed |
|
|
CA902842 rs747680374 |
593 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388537993 CA340758829 |
595 | E>* | No |
ClinGen gnomAD |
|
|
CA340758821 rs1346257533 |
595 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA902841 rs377651084 |
596 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340758772 rs1427711336 |
599 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1216602069 CA340758779 |
599 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 600 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779884641 CA902838 |
600 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA902837 rs755908528 |
601 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA23604955 rs993298903 |
602 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 603 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 604 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs897978449 CA23604951 |
604 | L>I | No |
ClinGen TOPMed |
|
|
rs751723352 CA902836 |
605 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751723352 CA340758702 |
605 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340758686 rs1375502505 |
606 | C>R | No |
ClinGen gnomAD |
|
|
CA902834 rs1553155758 |
607 | L>S | No |
ClinGen Ensembl |
|
|
CA340758633 rs1200565211 |
610 | P>A | No |
ClinGen gnomAD |
|
|
rs758434730 CA23604927 |
612 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758434730 CA902832 |
612 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1748582 COSM1748583 CA340758582 rs1179438220 |
614 | R>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA902831 rs752745984 |
614 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA902830 rs765285279 |
616 | K>T | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA340758547 rs1571196005 |
617 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA902828 rs200248484 |
622 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA902827 rs148919381 |
622 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772947978 CA902825 |
626 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772947978 CA340758436 |
626 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA902824 rs149513392 |
626 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340758415 rs1352248457 |
627 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs761597392 CA902823 |
629 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340758393 rs761597392 |
629 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340758391 rs1395179757 |
629 | Q>P | No |
ClinGen gnomAD |
|
|
CA340758353 rs1395967592 |
632 | D>N | No |
ClinGen TOPMed |
|
|
rs768109533 CA902821 |
634 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs779870742 CA902819 |
635 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779870742 CA902820 |
635 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340758293 rs1571195909 |
636 | L>V | No |
ClinGen Ensembl |
|
|
rs769529504 CA902818 |
637 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1045303229 CA23604794 |
638 | D>E | No |
ClinGen TOPMed |
|
|
CA23604810 rs1015560691 |
638 | D>N | No |
ClinGen Ensembl |
|
|
CA902817 rs745695858 |
640 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA902815 COSM1503356 rs374071985 COSM1503355 |
641 | G>A | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA340758223 rs374071985 |
641 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA902816 rs781006474 |
641 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs115054049 RCV000891442 CA902814 |
642 | T>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1254472774 CA340758212 |
643 | R>G | No |
ClinGen gnomAD |
|
|
CA340758208 rs1571195839 |
643 | R>K | No |
ClinGen Ensembl |
|
|
rs1202604180 CA340758195 |
644 | S>L | No |
ClinGen gnomAD |
|
|
CA340756993 rs1367297048 |
646 | M>T | No |
ClinGen gnomAD |
|
|
CA340756920 rs1190047008 |
651 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA340756921 rs1190047008 |
651 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA902800 rs769689855 COSM911902 COSM911903 |
652 | R>* | Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs745857232 CA902799 |
652 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs376259523 CA902798 |
656 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376259523 CA23603445 |
656 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1475190153 CA340756851 |
657 | C>G | No |
ClinGen TOPMed |
|
|
rs150030605 CA23603440 |
658 | A>T | No |
ClinGen ESP |
|
|
rs770782759 CA902797 |
658 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285002786 CA340756764 |
661 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 662 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA902796 rs547804752 |
664 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1301873090 | 664 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA902793 rs779012748 |
670 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA902792 rs755033152 |
672 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs918263719 CA23603415 |
673 | S>T | No |
ClinGen gnomAD |
|
|
rs976418964 CA23603410 |
674 | F>V | No |
ClinGen Ensembl |
|
|
rs749355487 CA902791 |
676 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA340756482 rs1402035710 |
677 | D>Y | No |
ClinGen TOPMed |
|
|
CA340756453 rs1298926433 |
678 | H>R | No |
ClinGen TOPMed |
|
|
CA340756439 rs1187106419 |
679 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA23603405 rs369086630 |
683 | L>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs911127031 CA23603396 |
685 | V>A | No |
ClinGen Ensembl |
|
|
CA340756318 rs1282354043 |
685 | V>L | No |
ClinGen TOPMed |
|
|
rs780318154 CA902790 |
686 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1449955463 CA340756277 |
687 | S>A | No |
ClinGen gnomAD |
|
|
rs1291879502 CA340756270 |
687 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs756665269 CA902789 |
688 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA23603384 rs1050001809 |
689 | L>* | No |
ClinGen TOPMed |
|
| rs760374659 | 689 | L>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs534583672 CA902788 |
690 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs534583672 CA340756214 |
690 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs151317467 CA23603374 |
690 | Q>R | No |
ClinGen ESP |
|
|
CA902786 rs767988202 |
691 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757566698 CA902785 |
693 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273887839 CA340756140 |
694 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 695 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465044581 CA340756095 |
696 | H>Q | No |
ClinGen gnomAD |
|
|
CA340756080 rs1186130508 |
697 | L>H | No |
ClinGen TOPMed |
|
|
rs199813772 CA902784 |
698 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139044467 CA902783 |
699 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340756051 rs1433601360 |
699 | Y>H | No |
ClinGen gnomAD |
|
|
rs1305447659 CA340756009 |
701 | K>R | No |
ClinGen gnomAD |
|
|
rs762707972 CA902782 |
704 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462365223 CA340755448 |
705 | I>V | No |
ClinGen gnomAD |
|
|
CA902757 rs760703779 |
706 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA902756 rs772858841 |
707 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA340755378 rs1286961969 |
710 | D>G | No |
ClinGen gnomAD |
|
|
CA340755353 rs1225947174 |
712 | L>P | No |
ClinGen gnomAD |
|
|
CA902755 rs143311715 |
714 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1446369134 CA340755317 |
715 | P>L | No |
ClinGen gnomAD |
|
|
CA340755321 rs1302622422 |
715 | P>S | No |
ClinGen gnomAD |
|
|
rs1337655844 CA340755291 |
717 | P>L | No |
ClinGen gnomAD |
|
|
rs763081243 CA902754 |
718 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA902752 rs759029129 |
719 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs953850450 CA23602474 |
721 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 724 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756926788 CA23602458 |
724 | Q>R | No |
ClinGen Ensembl |
|
|
CA902749 rs781462701 |
725 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA340755184 rs1378581189 |
725 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 727 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA902748 rs771321046 |
727 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM244011 COSM244010 rs892811026 CA23602412 |
729 | E>D | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1011288770 CA23602420 |
729 | E>Q | No |
ClinGen Ensembl |
|
|
CA902746 rs777998521 |
731 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs371928898 CA23602384 |
732 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA902744 rs752292385 |
735 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 735 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 735 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA902743 rs374648098 |
736 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA902742 rs754441338 |
737 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs907261069 CA23602356 |
738 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 740 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433700889 CA340754957 |
742 | I>V | No |
ClinGen TOPMed |
|
|
CA902741 rs753312452 |
743 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244167400 CA340754932 |
744 | E>Q | No |
ClinGen gnomAD |
|
|
CA340754901 rs1385468208 |
746 | L>F | No |
ClinGen gnomAD |
|
|
CA902740 rs765959640 |
747 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23602314 rs998798171 |
749 | I>T | No |
ClinGen Ensembl |
|
|
rs1218536484 CA340754843 |
751 | K>Q | No |
ClinGen TOPMed |
|
|
COSM3706016 CA23602294 COSM3706015 rs146321687 |
753 | R>K | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
|
rs913770247 CA23602291 |
753 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA23602287 rs34131891 |
755 | L>F | No |
ClinGen Ensembl |
|
|
CA23602282 rs367750399 |
756 | P>A | No |
ClinGen ESP TOPMed |
|
|
CA902737 rs750440720 |
756 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA23602284 rs367750399 |
756 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA340754750 rs1571192378 |
757 | L>I | No |
ClinGen Ensembl |
|
|
rs1454432467 CA340754718 |
758 | K>N | No |
ClinGen gnomAD |
|
|
CA340754704 rs1162613345 |
759 | E>G | No |
ClinGen gnomAD |
|
|
rs767150395 CA902736 |
759 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340754663 rs1385601463 |
761 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA902735 rs761713925 |
761 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA340754603 rs1263498893 |
764 | L>P | No |
ClinGen gnomAD |
|
|
CA340754592 rs1186528913 |
765 | K>T | No |
ClinGen gnomAD |
|
|
CA902713 rs766315169 |
768 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760835070 CA902712 |
770 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA340754339 rs375812118 CA902710 |
771 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA23601797 rs61739526 |
771 | Y>S | No |
ClinGen Ensembl |
|
|
CA902709 rs748699841 |
772 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA902708 rs774688113 |
772 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769077645 CA902707 |
773 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA340754278 rs1359857969 |
775 | Y>C | No |
ClinGen TOPMed |
|
|
CA340754285 rs1225502689 |
775 | Y>H | No |
ClinGen gnomAD |
|
|
CA902706 rs748873861 |
778 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs779770378 CA902705 |
781 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779770378 CA340754185 |
781 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755531273 CA902704 |
782 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340754143 rs1312477556 |
784 | S>I | No |
ClinGen TOPMed |
|
|
CA340754145 rs1312477556 |
784 | S>N | No |
ClinGen TOPMed |
|
|
rs200717783 CA902702 |
785 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA902701 rs757245539 |
786 | A>G | No |
ClinGen ExAC |
|
|
rs751612490 CA902700 |
787 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761996516 CA23601725 |
788 | L>I | No |
ClinGen Ensembl |
|
|
rs753955255 CA902698 |
789 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA902697 rs753955255 |
789 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA340754066 rs1430535923 |
790 | G>C | No |
ClinGen gnomAD |
|
|
COSM1687872 CA340754048 COSM1687871 rs1182117435 |
791 | D>G | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1557614931 CA340754040 |
792 | K>E | No |
ClinGen Ensembl |
|
|
CA902695 rs760850614 |
794 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA23601674 rs574952697 |
795 | I>V | No |
ClinGen Ensembl |
|
|
rs773323414 CA902694 |
797 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs191012228 CA902692 |
798 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340753920 rs1243126127 |
799 | M>T | No |
ClinGen TOPMed |
|
|
CA340753931 rs1264363349 |
799 | M>V | No |
ClinGen gnomAD |
|
|
rs1287608302 CA340753821 |
803 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA23601649 rs56248801 |
804 | K>E | No |
ClinGen Ensembl |
|
|
CA902690 rs370916107 |
806 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768952825 CA902689 |
808 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377577562 CA902688 |
808 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377577562 CA902687 |
808 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340753707 rs1338309561 |
809 | S>G | No |
ClinGen gnomAD |
|
|
rs777713894 CA23601617 |
809 | S>N | No |
ClinGen Ensembl |
|
|
rs144066767 CA23601615 |
810 | L>I | No |
ClinGen ESP TOPMed |
|
|
rs566375684 CA902686 |
810 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q5TB30
1 regional properties for Q5TB30
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | DEP domain | 24 - 108 | IPR000591 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| transcription repressor complex | A protein complex that possesses activity that prevents or downregulates transcription. |
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 |
|---|---|
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5ZLD2 | DEPDC1B | DEP domain-containing protein 1B | Gallus gallus (Chicken) | PR |
| Q8N2C3 | DEPDC4 | DEP domain-containing protein 4 | Homo sapiens (Human) | PR |
| Q8WUY9 | DEPDC1B | DEP domain-containing protein 1B | Homo sapiens (Human) | PR |
| Q8BH88 | Depdc1b | DEP domain-containing protein 1B | Mus musculus (Mouse) | PR |
| Q21341 | let-99 | Protein let-99 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MESQGVPPGP | YRATKLWNEV | TTSFRAGMPL | RKHRQHFKKY | GNCFTAGEAV | DWLYDLLRNN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SNFGPEVTRQ | QTIQLLRKFL | KNHVIEDIKG | RWGSENVDDN | NQLFRFPATS | PLKTLPRRYP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ELRKNNIENF | SKDKDSIFKL | RNLSRRTPKR | HGLHLSQENG | EKIKHEIINE | DQENAIDNRE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LSQEDVEEVW | RYVILIYLQT | ILGVPSLEEV | INPKQVIPQY | IMYNMANTSK | RGVVILQNKS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DDLPHWVLSA | MKCLANWPRS | NDMNNPTYVG | FERDVFRTIA | DYFLDLPEPL | LTFEYYELFV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NILVVCGYIT | VSDRSSGIHK | IQDDPQSSKF | LHLNNLNSFK | STECLLLSLL | HREKNKEESD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| STERLQISNP | GFQERCAKKM | QLVNLRNRRV | SANDIMGGSC | HNLIGLSNMH | DLSSNSKPRC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CSLEGIVDVP | GNSSKEASSV | FHQSFPNIEG | QNNKLFLESK | PKQEFLLNLH | SEENIQKPFS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AGFKRTSTLT | VQDQEELCNG | KCKSKQLCRS | QSLLLRSSTR | RNSYINTPVA | EIIMKPNVGQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GSTSVQTAME | SELGESSATI | NKRLCKSTIE | LSENSLLPAS | SMLTGTQSLL | QPHLERVAID |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ALQLCCLLLP | PPNRRKLQLL | MRMISRMSQN | VDMPKLHDAM | GTRSLMIHTF | SRCVLCCAEE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VDLDELLAGR | LVSFLMDHHQ | EILQVPSYLQ | TAVEKHLDYL | KKGHIENPGD | GLFAPLPTYS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YCKQISAQEF | DEQKVSTSQA | AIAELLENII | KNRSLPLKEK | RKKLKQFQKE | YPLIYQKRFP |
| 790 | 800 | 810 | |||
| TTESEAALFG | DKPTIKQPML | ILRKPKFRSL | R |