O95759
PR
Gene name |
TBC1D8 (VRP) |
Protein name |
TBC1 domain family member 8 |
Names |
AD 3, Vascular Rab-GAP/TBC-containing protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11138 |
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 O95759
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O95759-F1 | Predicted | AlphaFoldDB |
906 variants for O95759
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA347969436 rs1573129343 |
2 | W>C | No |
ClinGen Ensembl |
|
|
rs1457922361 CA347969434 |
3 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA53196279 rs928201850 |
4 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA347969420 rs1263986479 |
5 | P>S | No |
ClinGen gnomAD |
|
|
rs980930537 CA53196278 |
8 | V>L | No |
ClinGen TOPMed |
|
|
CA347969367 rs1320413990 |
13 | A>S | No |
ClinGen TOPMed |
|
|
rs1335670517 CA347969360 |
14 | L>P | No |
ClinGen gnomAD |
|
|
CA347969346 rs1253332416 |
16 | L>P | No |
ClinGen TOPMed |
|
|
rs1216846382 CA347969348 |
16 | L>V | No |
ClinGen gnomAD |
|
|
CA1805455 rs754623116 |
17 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351511846 CA347969288 |
22 | S>N | No |
ClinGen gnomAD |
|
|
CA347969260 rs1311547731 |
24 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1416616245 CA347969230 |
26 | F>L | No |
ClinGen TOPMed |
|
|
CA347969239 rs1383794503 |
26 | F>V | No |
ClinGen gnomAD |
|
|
CA1805454 rs749102735 |
34 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA347969161 rs1558735967 |
35 | G>S | No |
ClinGen Ensembl |
|
|
CA1805453 rs779957804 |
36 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168151250 CA347969147 |
37 | G>R | No |
ClinGen gnomAD |
|
|
CA1805451 rs750308254 |
38 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1340077419 CA347969134 |
39 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs962453469 CA53196276 |
40 | R>C | No |
ClinGen TOPMed |
|
|
CA53196275 rs1014893568 |
40 | R>H | No |
ClinGen TOPMed |
|
|
rs775313531 CA1805440 |
44 | R>C | Variant assessed as Somatic; 4.646e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747594422 CA1805439 |
44 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA53189415 rs909008823 |
46 | V>F | No |
ClinGen gnomAD |
|
|
CA1805435 rs376513686 |
47 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368627293 CA1805433 |
48 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368627293 CA1805432 |
48 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1805431 rs374624320 |
49 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751641906 CA1805430 |
50 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1805429 rs764116950 |
53 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1805428 rs371278960 |
54 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759810790 CA1805425 |
56 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1805427 rs200658638 |
56 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347971765 rs200658638 |
56 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1805424 rs777249286 |
57 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215707930 CA347971756 |
58 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs898644387 CA53189414 |
58 | R>W | No |
ClinGen TOPMed |
|
|
CA347971747 COSM1398438 COSM1398437 rs1312790159 |
60 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM2980158 rs868793286 COSM2980157 CA53189413 |
63 | R>Q | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1805419 rs748991091 |
67 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA347971692 rs1422122794 |
69 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs200117463 CA1805417 |
70 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745663666 CA1805416 |
73 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA347971653 rs1283824103 |
75 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA347971644 rs1204302516 |
76 | P>R | No |
ClinGen gnomAD |
|
|
rs373901138 CA1805415 |
77 | I>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1437199452 CA347971641 |
77 | I>V | No |
ClinGen TOPMed |
|
|
CA53189411 rs957007254 |
78 | A>G | No |
ClinGen Ensembl |
|
|
rs746899004 CA1805413 |
79 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs763999628 CA53185993 |
87 | N>S | No |
ClinGen Ensembl |
|
|
rs1483830694 CA347969853 |
87 | N>Y | No |
ClinGen TOPMed |
|
|
CA347969839 rs1243805444 |
88 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs13387141 CA53185992 |
88 | Q>H | No |
ClinGen Ensembl |
|
|
CA1805388 rs754072002 |
89 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA347969829 rs754072002 |
89 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1805387 rs780324828 |
90 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780324828 CA53185991 |
90 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756544785 CA1805386 |
94 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1315701585 CA347969757 |
95 | Q>E | No |
ClinGen gnomAD |
|
|
rs368740197 CA1805384 |
95 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762343729 CA1805383 |
96 | N>K | No |
ClinGen ExAC |
|
|
rs1419725595 CA347969717 |
98 | L>P | No |
ClinGen TOPMed |
|
|
CA1805382 rs752180570 |
99 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA1805381 rs368576162 |
100 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347969679 rs1573957158 |
101 | L>F | No |
ClinGen Ensembl |
|
|
rs902321880 CA53185989 |
104 | F>S | No |
ClinGen Ensembl |
|
|
CA347969621 rs1360405738 |
106 | N>I | No |
ClinGen TOPMed |
|
|
CA347969618 rs1326811843 |
106 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs776314389 CA1805379 |
110 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA347969560 rs1398379973 |
112 | S>N | No |
ClinGen gnomAD |
|
|
rs757947503 CA53185988 |
113 | F>C | No |
ClinGen gnomAD |
|
|
rs757947503 CA347969548 |
113 | F>S | No |
ClinGen gnomAD |
|
|
rs920715873 CA53185987 |
114 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs770776507 COSM1316181 COSM1316182 CA1805378 |
115 | K>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA347969499 rs1170816544 |
117 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 118 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA53185985 rs369461190 |
119 | K>N | No |
ClinGen ESP TOPMed |
|
|
CA347969085 rs1209534199 |
122 | I>M | No |
ClinGen gnomAD |
|
|
CA347969087 rs1235182177 |
122 | I>T | No |
ClinGen gnomAD |
|
|
CA53185390 rs868408568 |
124 | E>* | No |
ClinGen gnomAD |
|
|
CA347969077 rs868408568 |
124 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347969059 rs1213428953 |
126 | T>S | No |
ClinGen gnomAD |
|
|
rs757862368 CA1805364 |
128 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA347969047 rs1224486903 |
128 | S>N | No |
ClinGen gnomAD |
|
|
CA1805363 rs535147025 |
129 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347969036 rs1357306977 |
130 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1355991003 CA347969027 |
131 | A>G | No |
ClinGen gnomAD |
|
|
rs754503350 CA1805361 |
131 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355991003 CA347969026 |
131 | A>V | No |
ClinGen gnomAD |
|
|
CA1805359 rs200227901 |
132 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760250881 CA1805358 |
133 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA1805357 rs773016878 |
137 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53185388 rs1051291220 |
138 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA53185387 rs932791162 |
140 | F>L | No |
ClinGen TOPMed |
|
|
CA1805355 rs761699182 |
141 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190772812 CA347968959 |
141 | R>Q | No |
ClinGen gnomAD |
|
|
rs1485186727 CA347968944 |
143 | A>G | No |
ClinGen gnomAD |
|
|
CA347968927 rs1260441939 |
146 | K>R | No |
ClinGen gnomAD |
|
|
CA1805354 rs774343957 |
148 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1805353 rs768677857 |
148 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161914241 CA347968906 |
149 | A>D | No |
ClinGen Ensembl |
|
|
CA1805350 rs770172911 |
150 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA1805349 rs746036791 |
152 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746036791 CA347968887 |
152 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs979521703 CA53185384 |
152 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1289189974 CA347968882 |
153 | F>L | No |
ClinGen gnomAD |
|
|
rs1163847353 CA347968866 |
155 | E>A | No |
ClinGen gnomAD |
|
|
CA53185382 rs1005998201 |
155 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs747535253 CA1805346 |
155 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1805347 rs747535253 |
155 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1805345 rs114414274 |
156 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114414274 CA1805344 |
156 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1261672174 CA347968838 |
160 | V>L | No |
ClinGen gnomAD |
|
|
CA53185381 rs947981470 |
161 | T>I | No |
ClinGen gnomAD |
|
|
CA347968833 rs1573945181 |
161 | T>P | No |
ClinGen Ensembl |
|
|
rs750050868 CA1805340 |
162 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA1805338 rs761657631 |
164 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs773960848 CA1805337 |
167 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53185380 rs1035572534 |
167 | C>Y | No |
ClinGen TOPMed |
|
|
rs764098215 CA1805336 |
168 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA1805335 rs200546627 |
171 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1805334 rs775732953 |
171 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA347968754 rs1573945055 |
172 | V>G | No |
ClinGen Ensembl |
|
|
rs1296268082 CA347968757 |
172 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347968759 rs1296268082 |
172 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1339558500 CA347968752 |
173 | P>A | No |
ClinGen TOPMed |
|
|
rs1339558500 CA347968751 |
173 | P>S | No |
ClinGen TOPMed |
|
|
CA53185379 rs563493548 |
174 | R>C | No |
ClinGen Ensembl |
|
|
COSM3406707 COSM3406706 CA1805332 rs759875939 |
174 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1805331 rs776987344 |
175 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1477655141 CA347968722 |
177 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA53185378 rs750144028 |
179 | Y>H | No |
ClinGen Ensembl |
|
|
rs371557758 CA1805329 |
188 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347968633 rs1461092101 |
190 | F>S | No |
ClinGen gnomAD |
|
|
CA1805327 rs772661686 |
193 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs370925812 CA1805326 |
196 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs57350438 CA53185023 |
197 | K>N | No |
ClinGen Ensembl |
|
|
CA1805307 rs779382655 |
201 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 201 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1805304 rs369113730 |
205 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1805305 rs373065828 |
205 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1312847406 CA347968503 |
208 | L>I | No |
ClinGen gnomAD |
|
|
rs1435720859 CA347968501 |
208 | L>S | No |
ClinGen gnomAD |
|
|
rs1404729374 CA347968478 |
211 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs377153420 CA53185021 |
212 | S>F | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
| TCGA novel | 212 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1337274902 CA347968468 |
213 | N>D | No |
ClinGen TOPMed |
|
|
rs372928611 CA1805303 |
213 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1364623421 CA347968463 |
214 | V>I | No |
ClinGen gnomAD |
|
|
rs1474291960 CA347968449 |
216 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1805301 rs777663319 |
216 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1805300 rs533724239 |
217 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1805298 rs765276160 |
218 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA347968436 rs765276160 |
218 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1226921854 CA347968430 |
219 | T>N | No |
ClinGen TOPMed |
|
|
CA1805296 rs568388681 |
221 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1276568717 CA347968405 |
223 | T>S | No |
ClinGen TOPMed |
|
|
rs369454665 CA347968399 |
224 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1805295 rs369454665 |
224 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1573938725 CA347968396 |
225 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 225 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780603523 CA53185020 |
229 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA347968363 rs1293198099 |
229 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs780603523 CA347968366 |
229 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1805293 rs548468868 |
232 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1805290 CA347968336 rs774633098 |
233 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1805291 rs762181291 |
233 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199634752 CA1805292 |
233 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1805287 rs776255052 |
238 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 243 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA53185018 rs1054929322 |
244 | M>I | No |
ClinGen TOPMed |
|
|
rs1160261144 CA347968263 |
244 | M>L | No |
ClinGen TOPMed |
|
|
CA347968260 rs1473712537 |
244 | M>R | No |
ClinGen gnomAD |
|
|
rs1371287120 CA347968256 |
245 | E>K | No |
ClinGen gnomAD |
|
|
rs1447402616 CA347968246 |
246 | Q>P | No |
ClinGen gnomAD |
|
|
CA53185017 rs868797369 |
248 | A>V | No |
ClinGen Ensembl |
|
|
rs1211500827 CA347968231 |
249 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA347968229 rs1211500827 |
249 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
COSM1004539 CA1805284 COSM1004538 rs777277144 |
250 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1229562117 CA347968217 |
251 | T>A | No |
ClinGen gnomAD |
|
|
CA1805283 rs199891498 |
251 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA53185015 rs936987622 |
252 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM199741 rs747957096 CA347968208 |
253 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM1004536 CA53185014 rs375999657 COSM1004537 |
253 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
CA1805281 rs151200078 |
257 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1805280 rs754985690 |
258 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347968143 rs1407199817 |
263 | L>V | No |
ClinGen gnomAD |
|
|
rs1573938350 CA347968136 |
264 | D>A | No |
ClinGen Ensembl |
|
|
rs376781065 CA1805277 |
264 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA53185012 rs376781065 |
264 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767733832 CA1805275 |
265 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs767733832 CA347968132 |
265 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs764421422 CA53185011 |
266 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA347968127 rs570395629 |
266 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1805273 rs570395629 |
266 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA347968112 rs1573938281 |
268 | Q>R | No |
ClinGen Ensembl |
|
|
rs1223090191 CA347968104 |
269 | E>G | No |
ClinGen gnomAD |
|
|
CA1805271 rs183042779 |
270 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1435640251 CA347968098 |
270 | P>S | No |
ClinGen gnomAD |
|
|
rs1343500313 CA347968092 |
271 | S>N | No |
ClinGen gnomAD |
|
|
rs879204679 CA53185010 |
273 | I>T | No |
ClinGen Ensembl |
|
|
rs1278984647 CA347915243 |
280 | A>V | No |
ClinGen gnomAD |
|
|
CA347915231 rs1410568090 |
281 | R>S | No |
ClinGen gnomAD |
|
|
CA347915226 rs1181521828 |
282 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1805252 rs751750245 |
282 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764507307 CA1805251 |
285 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347915147 rs763212244 |
286 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA347915145 rs1573919782 |
287 | F>L | No |
ClinGen Ensembl |
|
|
CA1805249 rs753047825 |
288 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1003818142 CA52831086 |
288 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1805247 rs760045006 |
294 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 295 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1805245 rs771683683 |
299 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs935456435 CA52831053 |
301 | A>P | No |
ClinGen TOPMed |
|
|
rs935456435 CA347915019 |
301 | A>T | No |
ClinGen TOPMed |
|
|
CA1805243 rs774137261 COSM3406704 COSM3406705 |
301 | A>V | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs749045817 CA1805241 |
302 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA347914983 rs1283877053 |
306 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347914985 rs1283877053 |
306 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs745796741 CA1805238 |
307 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1805236 rs757323863 |
308 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs370330869 COSM1481785 CA1805235 COSM1481784 |
309 | T>M | Variant assessed as Somatic; 4.641e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA52831001 rs991388289 |
310 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1805233 rs758578178 |
310 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347914953 rs1415220498 |
311 | F>L | No |
ClinGen gnomAD |
|
|
rs1458344710 CA347914949 |
312 | S>N | No |
ClinGen gnomAD |
|
|
rs1209194697 CA347914946 |
312 | S>R | No |
ClinGen TOPMed |
|
|
rs753031086 COSM714981 COSM714982 CA1805232 |
313 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1805231 rs760007379 |
313 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA347914942 rs760007379 |
313 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA1805230 rs760007379 |
313 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA1805228 VAR_047500 rs2289953 |
317 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1421540045 CA347914916 |
317 | T>M | No |
ClinGen gnomAD |
|
|
CA52830996 rs2289953 |
317 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373113146 COSM1228605 CA1805225 COSM1228606 |
319 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1805226 rs773935600 |
319 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA347914900 rs1164265819 |
320 | M>I | No |
ClinGen gnomAD |
|
|
COSM86686 CA52830964 rs983037879 |
322 | A>T | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA347914880 rs775198232 |
323 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775198232 CA1805223 |
323 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347914883 rs1232779570 |
323 | S>P | No |
ClinGen gnomAD |
|
|
rs1171681852 CA347914870 |
325 | S>G | No |
ClinGen TOPMed |
|
|
rs376684318 CA1805221 |
332 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1805220 rs781092402 |
333 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA347914799 rs747096708 |
334 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1805219 rs200653201 |
334 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA347914803 rs1553404223 |
334 | D>V | No |
ClinGen Ensembl |
|
|
CA347914787 rs1317955391 |
336 | C>Y | No |
ClinGen TOPMed |
|
|
rs777789282 CA1805216 |
339 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA347914767 rs1416307100 |
339 | I>V | No |
ClinGen gnomAD |
|
|
CA1805215 rs201047184 |
340 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1167601040 CA347914739 |
344 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1427275964 CA347914737 |
344 | R>K | No |
ClinGen gnomAD |
|
|
CA1805188 rs757914658 |
347 | V>L | No |
ClinGen ExAC TOPMed |
|
|
rs1304168091 CA347914223 |
349 | I>F | No |
ClinGen gnomAD |
|
|
CA1805186 rs764946034 |
351 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1416305798 CA347914187 |
351 | K>T | No |
ClinGen TOPMed |
|
|
rs780771763 CA347914175 |
352 | M>R | No |
ClinGen Ensembl |
|
|
rs780771763 CA52829952 |
352 | M>T | No |
ClinGen Ensembl |
|
|
rs371898061 CA1805185 |
352 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1412052980 CA347914110 |
355 | T>M | No |
ClinGen gnomAD |
|
|
rs1573916362 CA347914058 |
357 | L>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 358 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1466710027 CA347914021 |
359 | P>L | No |
ClinGen gnomAD |
|
|
CA1805181 rs773194021 COSM199735 |
360 | H>Y | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA347913933 rs1184179813 |
362 | I>S | No |
ClinGen gnomAD |
|
|
CA1805178 rs774258866 |
362 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769025866 CA1805177 |
363 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1805176 rs749503181 |
368 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs945022448 CA52829874 |
369 | K>* | No |
ClinGen TOPMed |
|
|
CA1805174 rs577054284 |
369 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1237701538 CA347913750 |
373 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1329319231 CA347913699 |
375 | I>T | No |
ClinGen gnomAD |
|
|
CA1805173 rs746421271 |
376 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA347913658 rs202111685 |
378 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752283302 CA1805171 |
378 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1805170 rs752283302 |
378 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202111685 CA1805172 |
378 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA52829869 COSM3379710 COSM3379711 rs553945266 |
380 | R>* | pancreas Variant assessed as Somatic; 9.321e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD |
|
CA52829870 rs553945266 |
380 | R>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1805169 rs778237994 |
380 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754670770 CA1805168 |
381 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1805167 rs753453817 |
382 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA52829859 rs973790153 |
382 | S>R | No |
ClinGen Ensembl |
|
|
rs962764777 CA52829858 |
386 | A>T | No |
ClinGen Ensembl |
|
|
rs766226464 CA1805166 |
386 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1805163 rs767524342 |
388 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474155368 CA347913474 |
388 | L>P | No |
ClinGen gnomAD |
|
|
CA1805162 rs371151119 |
389 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1805159 rs763335688 |
393 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA347913399 rs775843251 |
396 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1004532 COSM1004533 rs775843251 CA1805158 |
396 | A>T | endometrium Variant assessed as Somatic; 9.343e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1269438785 CA347913391 |
397 | N>H | No |
ClinGen gnomAD |
|
|
CA1805157 rs770085386 |
397 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA347913388 rs1226669943 |
397 | N>S | No |
ClinGen TOPMed |
|
|
CA1805155 rs781370079 |
398 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1805156 rs373747857 |
398 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1805154 rs771490829 |
399 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347913359 rs771490829 |
399 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA52829773 rs1010440460 |
400 | V>M | Variant assessed as Somatic; 4.665e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs754476292 CA347913346 |
401 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1805151 rs754476292 |
401 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778430000 CA1805152 |
401 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322611837 CA347913315 |
402 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1805149 rs779691719 |
403 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347913295 rs1389913672 |
403 | D>N | No |
ClinGen gnomAD |
|
|
CA347913283 rs1473746827 |
404 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1805148 rs763921122 |
404 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 404 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750257109 CA1805147 |
405 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs767197656 CA1805146 |
406 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1173344807 CA347913255 |
406 | A>T | No |
ClinGen TOPMed |
|
|
rs767197656 CA347913251 |
406 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1805143 rs535403545 |
407 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1805144 rs751447886 |
407 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs535403545 CA1805142 |
407 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1558643526 CA347913201 |
409 | D>H | No |
ClinGen Ensembl |
|
|
rs889703920 CA52829704 |
410 | M>L | No |
ClinGen TOPMed |
|
|
CA1805110 rs113562002 |
411 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA52828946 rs375577669 |
412 | S>L | No |
ClinGen ESP |
|
|
rs775025437 CA1805108 |
412 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1805107 rs544707363 |
413 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1805105 rs150964994 COSM1398426 COSM1398425 |
414 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1234302722 CA347912867 |
417 | S>L | No |
ClinGen TOPMed |
|
|
CA347912817 rs1208497671 |
420 | M>I | No |
ClinGen gnomAD |
|
|
rs144053329 CA1805104 |
422 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1279657250 CA347912747 |
423 | D>E | No |
ClinGen gnomAD |
|
|
CA347912761 rs1197304791 |
423 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 424 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347912707 rs1251312171 |
425 | R>T | No |
ClinGen Ensembl |
|
|
CA347912692 rs758457951 |
426 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1805101 rs758457951 |
426 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1805100 rs752650342 |
429 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347912635 rs752650342 |
429 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140112002 CA1805099 |
431 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347912577 rs1304230899 |
432 | M>I | No |
ClinGen gnomAD |
|
|
CA347912587 rs1300840612 |
432 | M>L | No |
ClinGen gnomAD |
|
|
rs368634804 CA1805098 |
432 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201011787 CA1805096 |
438 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760839882 CA1805095 |
439 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311778987 CA347912477 |
439 | E>K | No |
ClinGen gnomAD |
|
|
CA1805094 rs773618355 |
440 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA1805093 rs767840415 |
443 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
rs762377485 CA1805092 |
445 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1805091 rs769153426 |
446 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1805090 rs769153426 |
446 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA347912297 rs199934612 |
449 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777747620 CA347912284 |
449 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1805086 rs199934612 |
449 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1805084 rs748153320 |
450 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1805083 rs748153320 |
450 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1463737761 CA347912281 |
450 | P>T | No |
ClinGen gnomAD |
|
|
rs374615412 CA1805081 |
451 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347912250 rs1376655549 |
451 | D>V | No |
ClinGen gnomAD |
|
|
rs979365033 CA52828783 |
454 | V>F | No |
ClinGen TOPMed |
|
|
rs979365033 CA52828784 |
454 | V>I | No |
ClinGen TOPMed |
|
|
rs750639852 CA1805077 |
456 | A>T | Variant assessed as Somatic; 0.0005126 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA347912127 rs1387484313 |
459 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 461 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762183046 CA1805075 |
461 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1805073 rs764543310 |
463 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs763470026 CA1805072 |
463 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 464 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414925273 CA347912062 |
464 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1805071 rs776051192 |
465 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347912047 rs776051192 |
465 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247684711 CA347912021 |
466 | D>V | No |
ClinGen gnomAD |
|
|
CA1805068 rs772986474 |
468 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347912001 rs772986474 |
468 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA52828740 rs978757023 |
468 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA347911966 rs1573913540 |
469 | M>I | No |
ClinGen Ensembl |
|
|
CA52827928 rs1012169004 |
473 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1331228243 CA347911648 |
475 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 475 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 475 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310095766 CA347911605 |
479 | W>* | No |
ClinGen gnomAD |
|
|
CA52827926 rs896483123 |
480 | N>K | No |
ClinGen Ensembl |
|
|
rs766040733 CA1805050 |
482 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368909771 CA347911544 |
483 | F>L | No |
ClinGen gnomAD |
|
|
rs374579305 CA1805049 |
483 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1805048 rs772779953 |
484 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA347911501 rs1490208173 |
487 | G>D | No |
ClinGen TOPMed |
|
|
rs1269810847 CA347911505 |
487 | G>S | No |
ClinGen TOPMed |
|
|
rs761476853 CA1805046 |
488 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA347911490 rs761476853 |
488 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1470826522 CA347911481 |
489 | T>N | No |
ClinGen TOPMed |
|
|
rs768495351 CA1805044 |
490 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1376187559 CA347911448 |
492 | M>K | No |
ClinGen gnomAD |
|
|
rs373248214 CA1805043 |
494 | R>C | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201324556 CA1805041 |
494 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201324556 CA1805042 |
494 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1358092631 CA347911407 |
495 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1805039 rs781203035 |
499 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA52827902 rs1041918008 |
499 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA1805038 rs757526918 |
501 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA52827901 rs947243198 |
502 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1805036 rs778062606 |
504 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA347911312 rs1207092223 |
504 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347911308 rs1370936146 |
504 | M>T | No |
ClinGen TOPMed |
|
|
rs1207092223 CA347911313 |
504 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA52827888 rs758772397 |
508 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs758772397 CA1805035 |
508 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs182816989 CA1805034 |
510 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1313377709 CA347911242 |
510 | L>W | No |
ClinGen gnomAD |
|
|
rs560817394 CA1805032 |
511 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347911231 rs1292223972 |
511 | R>Q | No |
ClinGen TOPMed |
|
|
rs1359062483 CA347911215 |
513 | R>G | No |
ClinGen TOPMed |
|
|
CA347911201 rs1350438717 |
514 | L>F | No |
ClinGen gnomAD |
|
|
CA347910722 rs1558638484 COSM199730 |
521 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1446065139 CA347910717 |
522 | V>A | No |
ClinGen gnomAD |
|
|
CA347910719 rs1188022192 |
522 | V>L | No |
ClinGen gnomAD |
|
|
CA347910721 rs1188022192 |
522 | V>M | No |
ClinGen gnomAD |
|
|
rs764988538 COSM379221 COSM379220 CA1805006 |
523 | T>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs776533987 CA1805004 |
525 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 525 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347910679 rs371947230 |
528 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1207341685 CA347910683 |
528 | H>Y | No |
ClinGen gnomAD |
|
|
rs1398703515 CA347910673 |
529 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA347910675 rs1265179524 |
529 | P>S | No |
ClinGen gnomAD |
|
|
CA347910667 rs1573905894 |
530 | G>A | No |
ClinGen Ensembl |
|
|
rs773126071 CA1805001 |
533 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1805000 rs772359726 |
534 | N>H | No |
ClinGen ExAC gnomAD |
|
|
COSM3406702 COSM3406703 rs779489061 CA1804998 |
536 | V>L | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs779489061 CA52826148 |
536 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs369090730 CA1804997 |
538 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376930921 CA1804996 |
538 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347910595 rs1387927473 |
542 | K>* | No |
ClinGen gnomAD |
|
|
CA347910592 rs1167511295 |
542 | K>T | No |
ClinGen gnomAD |
|
|
rs1304271341 CA347910582 |
543 | C>W | No |
ClinGen TOPMed |
|
|
rs756541854 CA1804994 |
544 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1558638213 CA347910567 |
546 | V>L | No |
ClinGen Ensembl |
|
|
rs777127877 CA1804992 |
548 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1267347157 CA347910527 |
550 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 551 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369896413 CA1804991 |
551 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199967625 CA1804990 |
552 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765072309 CA1804989 |
552 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1227890248 CA347910472 |
555 | H>L | No |
ClinGen gnomAD |
|
|
CA1804988 rs372018110 |
555 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1804987 rs753560255 |
556 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1804986 rs766371074 |
560 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA347910404 rs1330448872 |
562 | P>H | No |
ClinGen gnomAD |
|
|
CA347910405 rs1354164273 |
562 | P>S | No |
ClinGen TOPMed |
|
|
CA1804985 rs200825898 |
563 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375959757 CA1804983 |
566 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1457518297 CA347910358 |
566 | N>S | No |
ClinGen TOPMed |
|
|
CA1804981 rs774730486 |
567 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774730486 CA347910348 |
567 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768933731 CA1804980 |
568 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770385373 CA1804977 |
571 | A>P | No |
ClinGen ExAC |
|
|
rs1477442120 CA347910293 |
572 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347910252 rs1200697770 |
576 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1804975 rs576274827 |
578 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1558637958 CA347910236 |
578 | T>S | No |
ClinGen Ensembl |
|
|
CA1804973 rs752142800 |
580 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1275466741 CA347910194 |
582 | H>Q | No |
ClinGen gnomAD |
|
|
rs754581064 CA1804971 |
583 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1804972 rs116402789 |
583 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1284010942 CA347910167 |
585 | P>H | No |
ClinGen gnomAD |
|
|
rs372596671 CA1804970 |
586 | K>E | No |
ClinGen ESP ExAC |
|
|
CA347910155 rs1222437683 |
586 | K>N | No |
ClinGen Ensembl |
|
|
rs766065644 CA1804969 |
587 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347909758 rs1428035637 |
592 | S>F | No |
ClinGen gnomAD |
|
|
CA1804913 rs772502730 |
593 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430435251 CA347909719 |
595 | I>V | No |
ClinGen gnomAD |
|
|
rs1343572220 CA347909682 |
597 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1804911 rs372930531 |
599 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1804909 rs745506596 |
605 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347909566 rs745506596 |
605 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 606 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347909546 rs1297649899 |
606 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1288200224 CA347909512 |
608 | E>A | No |
ClinGen Ensembl |
|
|
CA1804908 rs781203753 |
609 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777854114 CA1804904 |
614 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804905 rs777854114 |
614 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758313344 CA1804903 |
615 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs752738643 CA1804902 |
616 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 617 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1804899 rs754055152 |
619 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1228610 COSM1228609 rs755195520 CA1804900 |
619 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs201866929 CA1804897 |
623 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1804896 rs201866929 |
623 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA52822454 rs563932550 |
624 | Y>C | No |
ClinGen gnomAD |
|
|
CA347909213 rs1356078671 |
626 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1804895 rs369910173 |
628 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1305470 rs1463727121 CA347909189 COSM1305469 |
628 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs762360581 CA1804894 |
630 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA347909162 rs1480710043 |
631 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1804878 rs750837462 |
632 | A>V | No |
ClinGen ExAC |
|
|
rs1183779930 CA347908836 |
634 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
COSM1267476 rs757774990 COSM1267477 CA1804876 |
640 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA347908752 rs1558634347 |
641 | E>* | No |
ClinGen Ensembl |
|
|
rs1330415584 CA347908748 |
641 | E>D | No |
ClinGen TOPMed |
|
|
rs752095557 CA1804875 |
642 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs867653166 CA52820987 |
643 | I>V | No |
ClinGen Ensembl |
|
|
CA347908682 rs1558634319 |
646 | H>R | No |
ClinGen Ensembl |
|
|
rs764455401 CA1804874 |
647 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1804871 rs776237956 |
652 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1351343972 CA347908619 |
652 | E>Q | No |
ClinGen TOPMed |
|
|
CA52820967 rs779845717 |
653 | H>D | No |
ClinGen Ensembl |
|
|
rs150157730 CA1804869 |
656 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA347908527 rs1187353834 |
657 | L>P | No |
ClinGen gnomAD |
|
|
CA347908517 rs1573897754 |
658 | S>* | No |
ClinGen Ensembl |
|
|
rs1210479984 CA347908520 |
658 | S>A | No |
ClinGen TOPMed |
|
|
CA1804867 rs771895526 |
659 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs748091462 CA1804866 |
660 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1318643654 CA347908485 |
661 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1804863 rs186711956 |
663 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756370380 CA1804861 |
666 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375647796 CA1804859 |
667 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1055784624 CA52820898 |
668 | F>L | No |
ClinGen Ensembl |
|
|
CA52820894 rs939655077 |
672 | F>C | No |
ClinGen Ensembl |
|
|
CA347908356 rs1191911663 |
673 | L>F | No |
ClinGen gnomAD |
|
|
rs1191911663 CA347908358 |
673 | L>V | No |
ClinGen gnomAD |
|
|
rs1207250684 CA347908301 |
677 | P>L | No |
ClinGen gnomAD |
|
|
rs764689203 CA1804856 |
677 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1489946086 CA347908293 |
678 | L>R | No |
ClinGen gnomAD |
|
|
rs564042549 CA1804855 |
681 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347908221 rs1361921720 |
684 | V>L | No |
ClinGen gnomAD |
|
|
rs760470546 CA1804852 |
685 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1804850 rs767019766 |
687 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs761672216 CA1804849 |
688 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 692 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 693 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1426142753 CA347908154 |
693 | I>T | No |
ClinGen gnomAD |
|
|
CA1804846 rs377041619 |
693 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1804844 rs769854731 |
698 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA347908103 rs1479762087 |
701 | L>V | No |
ClinGen gnomAD |
|
|
CA347908088 rs1573897383 |
703 | V>G | No |
ClinGen Ensembl |
|
|
COSM1527085 CA1804842 COSM1527084 rs781485642 |
705 | E>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA52820829 rs372742073 |
707 | N>S | No |
ClinGen ESP TOPMed |
|
|
rs1354860955 CA347908029 |
709 | E>A | No |
ClinGen TOPMed |
|
|
CA347908015 rs1231178186 |
710 | D>A | No |
ClinGen TOPMed |
|
|
rs1195455540 CA347907982 |
713 | S>G | No |
ClinGen gnomAD |
|
|
rs370479457 CA1804839 |
713 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1804838 rs759011807 |
716 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347907935 rs1344862091 |
716 | D>G | No |
ClinGen gnomAD |
|
|
CA347907938 rs1221561074 |
716 | D>Y | No |
ClinGen gnomAD |
|
|
CA347907884 rs1447061102 |
720 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781643079 CA1804836 |
722 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804834 rs749836689 |
725 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs759365632 CA1804809 |
727 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1019590452 CA52820031 |
732 | K>N | No |
ClinGen Ensembl |
|
|
rs776807677 CA1804808 |
734 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804807 rs770908183 |
736 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804806 rs755124519 |
738 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283253402 CA347907117 |
738 | G>R | No |
ClinGen gnomAD |
|
|
rs1047117541 CA52819996 |
739 | P>L | No |
ClinGen Ensembl |
|
|
CA1804804 rs772352018 |
739 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1461288833 CA347907074 |
741 | V>A | No |
ClinGen TOPMed |
|
|
CA347907073 rs1461288833 |
741 | V>G | No |
ClinGen TOPMed |
|
|
rs1382833952 CA347907082 |
741 | V>L | No |
ClinGen gnomAD |
|
|
CA52819978 rs1037947044 |
742 | G>D | No |
ClinGen Ensembl |
|
|
rs866399942 CA52819974 |
743 | S>I | No |
ClinGen Ensembl |
|
|
rs376933645 CA1804801 |
745 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347907016 rs1410641105 |
746 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1804799 rs780813708 |
746 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA347907019 rs780813708 |
746 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA347907014 rs1410641105 |
746 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 747 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1229473325 CA347906985 |
748 | F>Y | No |
ClinGen Ensembl |
|
|
rs1185555316 CA347906955 |
750 | D>G | No |
ClinGen gnomAD |
|
|
rs758001242 CA1804795 |
750 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758001242 CA347906962 |
750 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804793 rs755006747 |
751 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755006747 CA1804792 |
751 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1216422803 CA347906932 |
752 | Q>* | No |
ClinGen gnomAD |
|
|
rs753703167 CA1804791 |
752 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs753703167 CA52819954 |
752 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA52819950 rs925322333 |
753 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs766279465 CA1804790 |
754 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA347906882 rs1212360154 |
755 | Y>C | No |
ClinGen gnomAD |
|
|
CA1804788 rs773385609 |
755 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs767873814 CA1804787 |
756 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA347906862 rs1270069100 |
757 | V>L | No |
ClinGen gnomAD |
|
|
rs754149783 CA52819939 |
759 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804786 rs754149783 |
759 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347906808 rs1362806349 |
760 | I>T | No |
ClinGen gnomAD |
|
|
rs374501299 CA1804783 |
761 | S>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs749610521 CA1804781 |
762 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1573894561 CA347906767 |
763 | L>P | No |
ClinGen Ensembl |
|
|
CA1804779 rs770297541 |
764 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs199616962 CA1804777 |
765 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367578819 CA1804776 |
765 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1804778 rs199616962 |
765 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs542315995 CA1804775 |
766 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1323168084 CA347906733 |
766 | D>E | No |
ClinGen gnomAD |
|
|
rs1266477872 CA347906738 |
766 | D>Y | No |
ClinGen gnomAD |
|
|
rs1490410632 CA347906719 |
767 | S>F | No |
ClinGen gnomAD |
|
|
CA1804774 rs201461683 |
768 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1804772 rs753600762 |
769 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 771 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764248919 CA1804742 |
771 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs764248919 CA1804743 |
771 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1167576139 CA347906576 |
773 | D>Y | No |
ClinGen TOPMed |
|
|
rs866837603 CA347906553 |
774 | Q>P | No |
ClinGen gnomAD |
|
|
CA52819715 rs866837603 |
774 | Q>R | No |
ClinGen gnomAD |
|
|
rs763219257 CA1804741 |
775 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA347906522 rs1324946100 |
776 | V>A | No |
ClinGen gnomAD |
|
|
CA1804740 rs753047544 |
777 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347906468 rs549154267 |
779 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1307906741 CA347906464 |
780 | E>K | No |
ClinGen gnomAD |
|
|
rs761342486 CA1804735 |
783 | R>C | No |
ClinGen ExAC |
|
|
CA1804734 rs377763089 |
783 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1804733 rs114292399 |
784 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1804732 rs748938703 |
786 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1452706098 CA347906328 |
787 | R>G | No |
ClinGen gnomAD |
|
|
CA347906299 rs1317138852 |
789 | R>G | No |
ClinGen TOPMed |
|
|
CA347906285 rs1383378909 |
789 | R>T | No |
ClinGen TOPMed |
|
|
CA1804731 rs779770874 |
791 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1804730 rs769726360 |
792 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804729 rs368937689 |
794 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1267474 rs757214698 CA1804727 COSM1267475 |
795 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1258950901 CA347906057 |
796 | D>E | No |
ClinGen gnomAD |
|
|
rs376791505 CA1804725 |
797 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758611100 CA347905923 |
801 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347905946 rs1250938227 |
801 | N>Y | No |
ClinGen TOPMed |
|
|
CA347905916 rs1453345178 |
802 | V>L | No |
ClinGen Ensembl |
|
|
rs746727869 CA1804689 |
803 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs547445086 CA1804688 |
804 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA52819171 rs1001156851 |
805 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs201720097 CA1804686 |
806 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1804685 rs201720097 |
806 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1804684 rs755234155 |
808 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804682 rs780191847 |
809 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1804681 rs756504530 |
813 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1804680 rs750711862 |
815 | E>Q | No |
ClinGen ExAC |
|
|
rs781732855 CA1804679 |
819 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs139953660 CA1804678 |
822 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347905278 rs1371633323 |
824 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA347905277 COSM1267479 COSM1267478 rs1300335298 |
824 | F>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1391525220 CA347905272 |
825 | K>E | No |
ClinGen gnomAD |
|
|
rs752292665 CA1804677 |
825 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1804642 rs761796481 |
829 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1489058150 CA347904798 |
829 | M>T | No |
ClinGen gnomAD |
|
|
CA1804639 rs559807365 CA1804640 |
830 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA52815783 rs1033979156 |
830 | M>L | No |
ClinGen TOPMed |
|
|
CA1804641 rs774275966 |
830 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1207754054 CA347904779 |
832 | C>R | No |
ClinGen TOPMed |
|
|
CA52815778 rs1046067298 |
832 | C>S | No |
ClinGen Ensembl |
|
|
rs1013728781 CA52815777 |
833 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1804637 rs770092747 |
834 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1001124275 CA52815745 |
836 | Q>H | No |
ClinGen TOPMed |
|
|
rs1401054447 CA347904740 |
837 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1401054447 CA347904738 |
837 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746069866 CA1804636 |
839 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1804635 rs201098419 |
840 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1457626050 CA347904724 |
840 | M>V | No |
ClinGen gnomAD |
|
|
rs771208541 CA1804634 |
841 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1804633 rs529256836 |
842 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1804632 rs778459831 |
843 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1027687407 CA52815714 COSM1004526 COSM1004527 |
843 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA347904707 rs778459831 |
843 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA347904693 rs1573882214 |
845 | D>A | No |
ClinGen Ensembl |
|
|
rs748858492 CA347904695 |
845 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804630 rs748858492 |
845 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347904683 rs1198178632 |
846 | P>L | No |
ClinGen gnomAD |
|
|
rs779401993 CA1804629 |
848 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA347904673 rs1488631544 |
848 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs755864517 CA1804628 |
849 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA347904661 rs1306256823 |
850 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1306256823 CA347904660 |
850 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs750031227 CA1804627 |
852 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA347904651 rs1257916116 |
852 | E>K | No |
ClinGen gnomAD |
|
|
CA1804625 rs184118901 |
855 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1804624 rs754523164 |
855 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347904627 rs184118901 |
855 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347904622 rs368734566 |
856 | I>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764066990 CA347904624 |
856 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804622 rs368734566 |
856 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764066990 CA1804623 |
856 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765215799 CA1804620 |
858 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1331898328 CA347904607 |
858 | A>V | No |
ClinGen gnomAD |
|
|
rs759599916 CA347904606 |
859 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373904281 CA1804618 |
859 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804619 rs759599916 |
859 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804616 rs747403009 |
862 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1041202537 CA347904577 |
863 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs918663410 CA52815610 |
863 | H>R | No |
ClinGen Ensembl |
|
|
rs1426910650 CA347904580 |
863 | H>Y | No |
ClinGen gnomAD |
|
|
rs773692275 CA1804615 |
864 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1369966417 CA347904566 |
865 | F>C | No |
ClinGen TOPMed |
|
|
CA347904570 rs1238272238 |
865 | F>L | No |
ClinGen gnomAD |
|
|
rs748662045 CA1804613 |
869 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs944121130 CA52815553 |
873 | C>G | No |
ClinGen TOPMed |
|
|
rs372757533 CA1804611 |
874 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1804609 rs780729445 |
875 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1376203292 CA347904504 |
875 | A>V | No |
ClinGen gnomAD |
|
|
CA1804608 rs756879116 |
877 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149786151 CA1804605 |
878 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1804606 rs763869063 |
878 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025032896 CA52815503 |
879 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs752585761 CA1804604 |
879 | I>S | No |
ClinGen ExAC |
|
|
CA52815499 rs936696432 |
880 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs572578268 CA347904472 |
881 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1804602 rs572578268 |
881 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1804600 rs749270956 COSM3425042 COSM3425043 |
882 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs200848642 CA1804599 |
884 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1804597 rs772553078 |
885 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200399853 CA347904446 |
885 | F>V | No |
ClinGen gnomAD |
|
|
CA347904439 rs1209232585 |
886 | R>K | No |
ClinGen TOPMed |
|
|
CA1804596 rs748486988 |
886 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA347904433 rs1353321958 |
887 | L>F | No |
ClinGen gnomAD |
|
|
rs1242488514 CA347904408 |
890 | D>E | No |
ClinGen gnomAD |
|
|
rs1291905528 CA347904414 |
890 | D>N | No |
ClinGen gnomAD |
|
|
rs769157519 CA1804594 |
891 | N>H | No |
ClinGen ExAC |
|
|
CA347904395 rs1311845581 |
892 | M>T | No |
ClinGen gnomAD |
|
|
CA347904398 rs1235676965 |
892 | M>V | No |
ClinGen gnomAD |
|
|
CA347904384 rs1396557175 |
893 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1804593 rs201583665 |
894 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347904366 rs1428394589 |
896 | I>T | No |
ClinGen TOPMed |
|
|
COSM1004522 rs770635592 COSM1004523 CA1804591 |
897 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs746647837 CA1804590 |
900 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310999751 CA347904330 |
901 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 902 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347904324 rs1367407653 |
902 | V>L | No |
ClinGen gnomAD |
|
|
CA347904313 rs1230152621 |
903 | S>R | No |
ClinGen TOPMed |
|
|
CA347904304 rs1297714872 |
905 | L>F | No |
ClinGen TOPMed |
|
|
CA347904282 rs1205948288 |
906 | D>G | No |
ClinGen gnomAD |
|
|
CA1804587 rs752493871 |
906 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776173001 CA1804574 |
907 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA52815023 rs866273068 |
908 | M>I | No |
ClinGen Ensembl |
|
|
rs370900495 CA52815031 |
908 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1804573 rs183633494 |
909 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347904251 rs1201419987 |
911 | G>R | No |
ClinGen TOPMed |
|
|
COSM1004519 CA347904243 COSM1004518 rs1358573793 |
912 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs746445422 CA1804572 |
914 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA1804570 rs777430537 |
915 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1249561622 CA347904207 |
916 | K>N | No |
ClinGen TOPMed |
|
|
rs771709884 CA1804569 |
918 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1804568 rs747946304 |
922 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804567 rs573588616 |
923 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs938587795 CA52814984 |
926 | P>L | No |
ClinGen TOPMed |
|
|
rs1558616426 CA347903838 |
931 | E>Q | No |
ClinGen Ensembl |
|
|
CA347903804 rs1573854177 |
933 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 933 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1804501 rs769722651 |
934 | R>* | No |
ClinGen ExAC gnomAD |
|
|
COSM1004517 rs759335576 COSM1004516 CA1804500 |
934 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1573854121 CA347903790 |
935 | D>A | No |
ClinGen Ensembl |
|
|
CA347903785 rs1171201433 |
935 | D>E | No |
ClinGen gnomAD |
|
|
rs903309520 CA52804241 |
935 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA347903782 rs1478596818 |
936 | S>G | No |
ClinGen gnomAD |
|
|
rs776659626 CA1804499 |
938 | S>L | No |
ClinGen ExAC TOPMed |
|
|
rs770720076 CA1804498 |
939 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804495 rs772352290 |
943 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748358702 CA1804493 |
945 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA52804188 rs1056414687 |
952 | V>F | No |
ClinGen TOPMed |
|
|
CA1804489 VAR_024654 rs1062062 |
954 | G>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1804486 rs751146917 |
956 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756558047 CA1804487 |
956 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1804485 rs200716618 |
957 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347903556 rs1463279971 |
958 | G>S | No |
ClinGen gnomAD |
|
|
CA347903501 rs1414169826 |
959 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA347903456 rs1181714935 |
963 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs750907846 CA1804467 |
964 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA1804466 rs1141419 |
965 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1141419 CA1804464 |
965 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1804465 rs1141419 |
965 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347903424 rs1214752443 |
966 | Q>* | No |
ClinGen gnomAD |
|
|
CA347903390 rs1286879752 |
969 | Q>* | No |
ClinGen gnomAD |
|
|
rs200284558 CA1804462 |
969 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 969 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs930515840 CA52803665 |
970 | M>I | No |
ClinGen TOPMed |
|
|
rs1175682507 CA347903323 |
977 | E>D | No |
ClinGen gnomAD |
|
|
rs766077739 CA1804460 |
979 | D>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 979 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 979 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA52803599 rs897663153 |
980 | K>T | No |
ClinGen TOPMed |
|
|
rs1375700484 CA347903284 |
983 | K>* | No |
ClinGen Ensembl |
|
|
rs767404298 CA1804456 |
986 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA52803561 rs959428602 |
987 | K>Q | No |
ClinGen gnomAD |
|
|
rs774394375 CA1804454 |
988 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347903250 rs1229969323 |
988 | M>V | No |
ClinGen TOPMed |
|
|
rs942376826 CA52800277 |
991 | R>G | No |
ClinGen TOPMed |
|
|
rs775605526 CA347902885 |
991 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281062145 CA347902878 |
992 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 999 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397680321 CA347902825 |
999 | T>S | No |
ClinGen gnomAD |
|
|
CA347902807 rs1464766962 |
1002 | S>N | No |
ClinGen gnomAD |
|
|
CA347902810 rs1352573898 |
1002 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1006 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747507427 CA1804418 |
1008 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA347902760 rs747507427 |
1008 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs778369835 CA1804417 |
1009 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1177959905 CA347902746 |
1010 | E>G | No |
ClinGen gnomAD |
|
|
rs960904695 CA52800191 |
1010 | E>K | No |
ClinGen Ensembl |
|
|
CA347902736 rs1223811284 |
1011 | N>K | No |
ClinGen TOPMed |
|
|
CA52800174 rs546321327 COSM1737026 COSM1737027 |
1012 | D>N | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1274906111 CA347902719 |
1014 | Y>H | No |
ClinGen gnomAD |
|
|
CA52800166 rs1034977327 |
1017 | I>V | No |
ClinGen Ensembl |
|
|
rs375678211 CA1804414 |
1018 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 1018 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371112222 CA1804412 |
1020 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755769534 CA1804411 |
1021 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1558962200 CA347902659 |
1024 | L>V | No |
ClinGen Ensembl |
|
|
CA1804410 rs750260189 |
1026 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs889573195 CA52800149 |
1027 | I>S | No |
ClinGen Ensembl |
|
|
CA347902637 rs1331348471 |
1028 | G>R | No |
ClinGen gnomAD |
|
|
CA347902617 rs1174515353 |
1031 | G>R | No |
ClinGen gnomAD |
|
|
CA1804407 rs374713421 |
1032 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA52800146 rs773290358 |
1033 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1804406 rs201893005 |
1033 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1804405 rs771965407 |
1034 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752796494 CA1804404 |
1037 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1037 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347902572 rs1185225997 |
1038 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA347902570 rs1185225997 |
1038 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347902552 rs1372148803 |
1041 | S>P | No |
ClinGen TOPMed |
|
|
CA1804403 rs376246458 |
1041 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759825483 CA347902542 |
1042 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573842440 CA347902531 |
1044 | C>G | No |
ClinGen Ensembl |
|
|
CA347902525 rs1573842426 |
1044 | C>W | No |
ClinGen Ensembl |
|
|
CA1804400 rs372711937 |
1045 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347902516 rs1244395035 |
1046 | E>G | No |
ClinGen TOPMed |
|
|
CA347902519 rs1313529126 |
1046 | E>K | No |
ClinGen TOPMed |
|
|
CA347902502 rs1277264657 |
1048 | L>V | No |
ClinGen TOPMed |
|
|
rs888458057 CA52800082 |
1049 | R>Q | No |
ClinGen gnomAD |
|
|
rs370459788 CA1804399 COSM199726 |
1049 | R>W | Variant assessed as Somatic; 0.0001394 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1281789390 CA347902485 |
1051 | S>* | No |
ClinGen gnomAD |
|
| TCGA novel | 1051 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1573842315 CA347902478 |
1052 | A>V | No |
ClinGen Ensembl |
|
|
rs1355254529 CA347902463 |
1055 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1056 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772586060 CA1804396 |
1057 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1804395 rs748798704 |
1058 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804394 rs779585738 |
1059 | V>F | No |
ClinGen ExAC |
|
|
CA347902420 rs1401211447 |
1062 | D>N | No |
ClinGen gnomAD |
|
|
rs780754738 CA1804391 |
1064 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs201882166 CA1804389 |
1066 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201882166 CA1804390 |
1066 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1430189460 CA347902357 |
1071 | Q>R | No |
ClinGen TOPMed |
|
|
rs1057580 CA347902346 |
1073 | F>I | No |
ClinGen gnomAD |
|
|
CA52799972 rs1057580 VAR_060542 |
1073 | F>L | No |
ClinGen UniProt dbSNP gnomAD |
|
|
COSM1004503 rs376670111 CA1804384 COSM1004502 |
1076 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA52799948 rs900980217 |
1077 | A>T | No |
ClinGen TOPMed |
|
|
CA1804381 VAR_022128 rs746924 |
1079 | R>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1804380 rs773603692 |
1081 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs772497052 CA1804379 |
1082 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs966338277 CA52799910 |
1084 | S>F | No |
ClinGen TOPMed |
|
|
CA347902270 rs1269831697 |
1085 | L>I | No |
ClinGen gnomAD |
|
|
CA347902266 rs1213226047 |
1085 | L>P | No |
ClinGen gnomAD |
|
|
CA347902262 rs1431497518 |
1086 | E>* | No |
ClinGen gnomAD |
|
|
rs1558961791 CA347902259 |
1086 | E>V | No |
ClinGen Ensembl |
|
|
rs774922509 CA1804375 |
1088 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555423938 CA1804374 |
1089 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745340648 COSM1305468 COSM1305467 CA1804373 |
1090 | A>G | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA347902224 rs1166898659 |
1092 | L>V | No |
ClinGen gnomAD |
|
|
COSM1237099 rs1422400118 CA347902208 COSM1237100 |
1095 | E>K | parathyroid [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs199973474 CA1804371 |
1096 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746815810 CA1804370 |
1096 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs777616306 CA1804369 |
1099 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804368 COSM1732720 COSM1732721 rs758322894 |
1100 | N>D | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs752690412 CA1804367 |
1100 | N>S | No |
ClinGen ExAC |
|
|
rs1295090936 CA347902156 |
1102 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1804365 rs755143027 |
1102 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA52799786 rs374981021 |
1104 | K>N | No |
ClinGen ESP |
|
|
CA347902140 rs1185776343 |
1105 | P>T | No |
ClinGen TOPMed |
|
|
CA52799773 rs989170842 |
1106 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs753924618 CA1804364 |
1106 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs3739011 CA1804363 VAR_022129 |
1108 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1804362 rs367986556 |
1110 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1364127385 CA347902106 |
1110 | S>P | No |
ClinGen gnomAD |
|
|
CA347902100 rs1440061282 |
1111 | K>Q | No |
ClinGen gnomAD |
|
|
CA347902091 rs1573841632 |
1112 | L>H | No |
ClinGen Ensembl |
|
| TCGA novel | 1113 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322562573 CA347902076 |
1114 | N>S | No |
ClinGen TOPMed |
|
|
rs191416863 CA52799748 |
1115 | A>T | No |
ClinGen 1000Genomes |
|
|
CA1804361 rs750820193 |
1116 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750820193 CA347902066 |
1116 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1117 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347902051 rs1170676003 |
1118 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs779657723 CA1804357 |
1118 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377378343 CA1804358 |
1118 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs776084703 CA1804352 |
1121 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804353 rs776084703 |
1121 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347902029 rs1322321498 |
1121 | N>S | No |
ClinGen TOPMed |
|
|
CA1804351 rs770633531 |
1122 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs746657341 CA1804349 |
1122 | L>R | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 1123 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772679281 CA1804347 |
1123 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804346 rs771908025 |
1125 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804345 rs747861119 |
1125 | F>S | No |
ClinGen ExAC |
|
|
CA347902001 rs779020109 |
1126 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA347901997 rs1460224050 |
1126 | E>D | No |
ClinGen gnomAD |
|
|
CA1804343 rs779020109 |
1126 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1804341 rs754948801 |
1127 | M>I | No |
ClinGen ExAC |
|
|
rs1233587010 CA347901993 |
1127 | M>L | No |
ClinGen gnomAD |
|
|
rs749419550 CA1804340 |
1128 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1397271977 CA347901981 |
1128 | S>R | No |
ClinGen gnomAD |
|
|
rs780277353 CA1804339 |
1130 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1130 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347901962 rs1558961334 |
1131 | S>* | No |
ClinGen Ensembl |
|
|
CA1804337 rs756351350 |
1131 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1804335 rs750674164 |
1132 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767592224 CA1804334 |
1133 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA1804333 rs757661332 |
1133 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1804331 rs372340498 |
1134 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1804330 rs763442121 |
1135 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1804329 rs764232602 |
1136 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1048378234 CA52799574 |
1137 | L>P | No |
ClinGen Ensembl |
|
|
rs765884689 CA1804327 |
1137 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1210476797 CA535105231 |
1140 | L>* | No |
ClinGen gnomAD |
|
|
CA52799552 rs772951152 |
1141 | L>Y | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with O95759
5 regional properties for O95759
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Rab-GAP-TBC domain | 502 - 715 | IPR000195 |
| domain | GRAM domain | 145 - 248 | IPR004182-1 |
| domain | GRAM domain | 285 - 395 | IPR004182-2 |
| domain | TBC1D8, PH-GRAM domain 1 | 156 - 254 | IPR036009 |
| domain | TBC1D8, PH-GRAM domain 2 | 296 - 391 | IPR036016 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
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. |
3 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. |
| blood circulation | The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
29 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 |
| 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 |
| Q9UPU7 | TBC1D2B | TBC1 domain family member 2B | Homo sapiens (Human) | PR |
| A3KGB4 | Tbc1d8b | TBC1 domain family member 8B | Mus musculus (Mouse) | PR |
| Q3UYK3 | Tbc1d9 | TBC1 domain family member 9 | Mus musculus (Mouse) | PR |
| Q9Z1A9 | Tbc1d8 | TBC1 domain family member 8 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWLKPEEVLL | KNALKLWVTQ | KSSCYFILQR | RRGHGEGGGR | LTGRLVGALD | AVLDSNARVA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PFRILLQVPG | SQVYSPIACG | ATLEEINQHW | DWLEQNLLHT | LSVFDNKDDI | ASFVKGKVKA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LIAEETSSRL | AEQEEEPEKF | REALVKFEAR | FNFPEAEKLV | TYYSCCCWKG | RVPRQGWLYL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SINHLCFYSF | FLGKELKLVV | PWVDIQKLER | TSNVFLTDTI | RITTQNKERD | FSMFLNLDEV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FKVMEQLADV | TLRRLLDNEV | FDLDPDLQEP | SQITKRDLEA | RAQNEFFRAF | FRLPRKEKLH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AVVDCSLWTP | FSRCHTTGRM | FASDSYICFA | SREDGCCKII | LPLREVVSIE | KMEDTSLLPH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PIIVSIRSKV | AFQFIELRDR | DSLVEALLAR | LKQVHANHPV | HYDTSADDDM | ASLVFHSTSM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CSDHRFGDLE | MMSSQNSEES | EKEKSPLMHP | DALVTAFQQS | GSQSPDSRMS | REQIKISLWN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DHFVEYGRTV | CMFRTEKIRK | LVAMGIPESL | RGRLWLLFSD | AVTDLASHPG | YYGNLVEESL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GKCCLVTEEI | ERDLHRSLPE | HPAFQNETGI | AALRRVLTAY | AHRNPKIGYC | QSMNILTSVL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LLYTKEEEAF | WLLVAVCERM | LPDYFNHRVI | GAQVDQSVFE | ELIKGHLPEL | AEHMNDLSAL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ASVSLSWFLT | LFLSIMPLES | AVNVVDCFFY | DGIKAIFQLG | LAVLEANAED | LCSSKDDGQA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LMILSRFLDH | IKNEDSPGPP | VGSHHAFFSD | DQEPYPVTDI | SDLIRDSYEK | FGDQSVEQIE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| HLRYKHRIRV | LQGHEDTTKQ | NVLRVVIPEV | SILPEDLEEL | YDLFKREHMM | SCYWEQPRPM |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ASRHDPSRPY | AEQYRIDARQ | FAHLFQLVSP | WTCGAHTEIL | AERTFRLLDD | NMDQLIEFKA |
| 910 | 920 | 930 | 940 | 950 | 960 |
| FVSCLDIMYN | GEMNEKIKLL | YRLHIPPALT | ENDRDSQSPL | RNPLLSTSRP | LVFGKPNGDA |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| VDYQKQLKQM | IKDLAKEKDK | TEKELPKMSQ | REFIQFCKTL | YSMFHEDPEE | NDLYQAIATV |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| TTLLLQIGEV | GQRGSSSGSC | SQECGEELRA | SAPSPEDSVF | ADTGKTPQDS | QAFPEAAERD |
| 1090 | 1100 | 1110 | 1120 | 1130 | |
| WTVSLEHILA | SLLTEQSLVN | FFEKPLDMKS | KLENAKINQY | NLKTFEMSHQ | SQSELKLSNL |