Q9UHL9
PR
Gene name |
GTF2IRD1 |
Protein name |
General transcription factor II-I repeat domain-containing protein 1 |
Names |
GTF2I repeat domain-containing protein 1, General transcription factor III, MusTRD1/BEN, Muscle TFII-I repeat domain-containing protein 1, Slow-muscle-fiber enhancer-binding protein, USE B1-binding protein, Williams-Beuren syndrome chromosomal region 11 protein, Williams-Beuren syndrome chromosomal region 12 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9569 |
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
5 structures for Q9UHL9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2D99 | NMR | - | A | 128-203 | PDB |
| 2DN5 | NMR | - | A | 802-877 | PDB |
| 2DZQ | NMR | - | A | 565-650 | PDB |
| 2DZR | NMR | - | A | 705-790 | PDB |
| AF-Q9UHL9-F1 | Predicted | AlphaFoldDB |
633 variants for Q9UHL9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA279854 rs863223350 RCV000202332 |
325 | R>C | Childhood-Onset Schizophrenia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA367942848 rs1267252308 |
3 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1196056898 CA367942858 |
5 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM1091662 CA4296353 rs201130740 |
7 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA4296355 rs782300227 |
7 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782300227 CA4296354 |
7 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554341610 CA367942871 |
8 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 9 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782698944 CA4296358 |
10 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs782139309 CA4296360 |
11 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4296361 rs782798877 |
12 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4296362 rs151198189 |
13 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4296364 rs782728018 |
14 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA367942914 rs1584550527 |
15 | C>S | No |
ClinGen Ensembl |
|
|
CA367942917 rs1554341629 |
15 | C>Y | No |
ClinGen gnomAD |
|
|
CA4296366 rs782432894 |
16 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367942927 rs1222855750 |
17 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs782595505 CA4296367 |
18 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3412287 CA4296368 rs139144176 |
19 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA160162021 rs139144176 |
19 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782566530 CA4296369 |
19 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs782566530 CA4296370 |
19 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA4296372 rs782351030 |
23 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs534894045 CA4296373 |
23 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 25 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469760051 CA367942980 |
25 | T>N | No |
ClinGen TOPMed |
|
|
CA4296376 rs782028586 |
26 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367942984 rs782028586 |
26 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296377 rs536231679 |
26 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs536231679 CA4296378 |
26 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA4296379 rs781952294 |
28 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367942998 rs1554341682 |
28 | D>G | No |
ClinGen gnomAD |
|
|
rs782098960 CA4296380 |
29 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA160162065 rs782608942 |
29 | E>K | No |
ClinGen Ensembl |
|
|
rs371558739 CA4296381 |
31 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781808515 CA4296382 |
34 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs782323687 CA4296384 |
35 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554341705 CA367943055 |
37 | A>V | No |
ClinGen gnomAD |
|
|
CA4296386 rs782517858 |
41 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4296385 rs781860483 |
41 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs781866989 CA4296409 |
44 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229854288 CA367944694 |
47 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs782623656 CA4296411 |
47 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554343392 CA367944759 |
50 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 50 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782667823 CA4296414 |
56 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782299708 CA4296415 |
57 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4296416 rs145072521 |
58 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782216607 CA4296418 |
59 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1554343415 CA367944985 |
61 | S>R | No |
ClinGen gnomAD |
|
|
rs782360413 CA4296419 |
62 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA160164720 rs376904675 |
64 | V>L | No |
ClinGen ESP TOPMed |
|
|
CA4296420 rs781926381 |
65 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372776217 CA4296421 |
68 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 69 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 69 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4296422 rs536671718 |
76 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs191451503 CA4296423 |
77 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367945147 rs1554343452 |
77 | R>W | No |
ClinGen gnomAD |
|
|
rs1554343461 CA367945158 |
79 | E>K | No |
ClinGen gnomAD |
|
|
rs1372104730 CA367945192 |
83 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1554344391 CA367939330 |
90 | G>A | No |
ClinGen gnomAD |
|
|
rs1203240070 CA367939334 |
91 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs781983523 CA4296462 |
92 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4296464 rs782400686 |
94 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs587756708 CA4296465 |
96 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA367939369 rs1554344424 |
96 | P>S | No |
ClinGen gnomAD |
|
|
CA367939374 rs1554344432 |
97 | E>K | No |
ClinGen gnomAD |
|
|
CA367939392 rs1554344436 |
99 | E>D | No |
ClinGen gnomAD |
|
|
rs1584571422 CA367939397 |
100 | H>P | No |
ClinGen Ensembl |
|
|
CA4296467 rs782739969 |
100 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367939406 rs1584571447 |
101 | P>L | No |
ClinGen Ensembl |
|
|
CA4296469 rs373581144 CA367939426 |
104 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367939432 rs1554344449 |
105 | Q>* | No |
ClinGen gnomAD |
|
|
rs781891844 CA4296471 |
106 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782820941 CA4296470 |
106 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141997700 CA367939444 |
107 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141997700 CA4296473 |
107 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782471998 CA4296475 |
108 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA367939454 rs782652949 |
109 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296476 rs782652949 |
109 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367939467 rs1554344457 |
111 | G>D | No |
ClinGen gnomAD |
|
|
rs147763522 CA4296477 |
112 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370252920 CA4296478 |
112 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367939472 rs370252920 |
112 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367939491 rs1554344467 |
115 | P>H | No |
ClinGen gnomAD |
|
|
CA4296480 rs141229377 |
116 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782672796 CA4296479 |
116 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1380565288 CA367939502 |
117 | S>Y | No |
ClinGen TOPMed |
|
|
rs1231662901 CA367939533 |
122 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA367939534 rs1231662901 |
122 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4296483 rs782078234 |
129 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782384791 CA4296484 |
132 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 133 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220757185 CA367939615 |
134 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA367939609 rs1291434200 |
134 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA367939620 rs1584571821 |
135 | V>G | No |
ClinGen Ensembl |
|
|
rs1254225891 CA367939687 |
142 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4296511 rs782150160 |
148 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 149 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554345075 CA367939797 |
159 | R>K | No |
ClinGen gnomAD |
|
|
CA4296516 rs781863057 |
159 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs782498176 CA4296517 |
160 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1283565459 CA367939810 |
161 | P>S | No |
ClinGen TOPMed |
|
|
rs587732088 CA4296519 |
162 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782445255 CA4296520 |
165 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA367939834 rs1554345089 |
166 | V>M | No |
ClinGen gnomAD |
|
|
CA4296524 rs782390446 |
171 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296523 rs782390446 |
171 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782405304 CA4296526 |
172 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367939877 rs1554345120 |
173 | L>V | No |
ClinGen Ensembl |
|
|
CA367939894 rs1414557906 |
175 | F>L | No |
ClinGen TOPMed |
|
|
CA4296528 COSM1209166 rs782048768 |
176 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs146302741 CA4296530 |
176 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146302741 CA4296529 |
176 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782125268 CA4296531 |
177 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289261549 CA367939915 |
180 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1554345132 CA367939931 |
182 | D>N | No |
ClinGen gnomAD |
|
|
rs781843361 CA4296536 |
184 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296537 rs782478077 |
184 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1554345135 CA367939964 |
187 | M>V | No |
ClinGen gnomAD |
|
|
rs1554345139 CA367939974 |
188 | A>T | No |
ClinGen gnomAD |
|
|
CA367939982 rs1554345141 |
189 | I>F | No |
ClinGen gnomAD |
|
|
CA4296538 rs782661581 |
191 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 193 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367940024 rs781856999 |
195 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4296539 rs781856999 |
195 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296540 rs782564236 COSM1659868 |
195 | R>H | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs782658937 CA4296541 |
197 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782196005 CA4296542 |
197 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs782658937 CA367940035 |
197 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367940039 rs1554345166 |
198 | F>L | No |
ClinGen gnomAD |
|
|
rs782309966 CA4296543 |
199 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367940067 rs797028461 |
202 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs587675956 CA4296572 |
204 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4296573 rs782650296 |
204 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA367940102 rs1554345342 |
205 | E>Q | No |
ClinGen gnomAD |
|
|
rs1554345344 CA367940108 |
206 | D>H | No |
ClinGen gnomAD |
|
|
CA367940109 rs1554345344 |
206 | D>Y | No |
ClinGen gnomAD |
|
|
CA367940123 rs1554345347 |
208 | G>E | No |
ClinGen gnomAD |
|
|
rs782360633 CA4296575 |
208 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782360633 CA4296576 |
208 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782040179 CA4296579 COSM1319794 |
209 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
RCV000972767 CA4296577 rs148084588 |
209 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs782144391 CA4296580 |
211 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367940137 rs1374887119 |
211 | S>T | No |
ClinGen TOPMed |
|
|
CA367940143 rs1584583565 |
212 | K>E | No |
ClinGen Ensembl |
|
|
CA4296583 rs782097819 |
213 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA367940150 rs1554345355 |
213 | A>T | No |
ClinGen gnomAD |
|
|
CA4296584 rs782727067 |
214 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554345364 CA367940163 |
215 | V>A | No |
ClinGen gnomAD |
|
|
rs144286165 CA367940184 |
218 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554345370 CA367940188 |
219 | G>S | No |
ClinGen gnomAD |
|
|
rs1554345376 CA367940202 |
221 | S>F | No |
ClinGen gnomAD |
|
|
rs587659894 CA4296587 |
223 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs969004203 CA160159986 |
224 | P>L | No |
ClinGen Ensembl |
|
|
CA367940216 rs781884706 |
224 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781884706 CA4296588 |
224 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs782438519 CA4296589 |
226 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs782633198 CA4296590 |
227 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs200483189 CA4296592 |
228 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142609601 CA4296591 |
228 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367940273 rs1554345394 |
233 | H>Q | No |
ClinGen gnomAD |
|
|
CA367940280 rs1554345396 |
234 | G>D | No |
ClinGen gnomAD |
|
|
CA367940292 rs782301604 |
236 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA4296594 rs782301604 |
236 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4296595 rs782408823 |
237 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4296596 rs781938937 |
238 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs782175403 CA4296597 |
239 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA4296599 rs781951200 |
241 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296598 rs782352507 |
241 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1584583927 CA367940332 |
243 | D>A | No |
ClinGen Ensembl |
|
|
rs375250983 CA4296601 |
245 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4296602 rs782029548 |
246 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1584583968 CA367940352 |
247 | T>P | No |
ClinGen Ensembl |
|
|
rs150553675 CA4296604 |
248 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4296605 rs781843020 |
249 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA367940363 rs781843020 |
249 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA367940385 rs1554345414 |
252 | S>F | No |
ClinGen gnomAD |
|
|
rs1295536040 CA367940380 |
252 | S>T | No |
ClinGen TOPMed |
|
|
RCV000965755 CA4296607 rs140630041 |
253 | M>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4296606 rs587723725 |
253 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 255 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 257 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375125290 CA367940416 |
257 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1463656199 CA367940428 |
259 | S>G | No |
ClinGen TOPMed |
|
|
CA4296609 rs587627122 |
260 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4296611 rs781811390 |
261 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296612 rs373085188 |
261 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA367940451 rs782615176 |
263 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296613 rs782615176 |
263 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255008739 CA367940461 |
264 | N>K | No |
ClinGen TOPMed |
|
|
rs782207760 CA367940459 |
264 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782207760 CA4296614 |
264 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296616 rs782623972 |
266 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA367940471 COSM177067 rs1480640371 |
266 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA367940475 rs782623972 |
266 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4296617 rs782284512 |
268 | R>* | Variant assessed as Somatic; 4.687e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4296618 rs147773285 |
268 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367940524 rs1554345440 |
273 | E>D | No |
ClinGen gnomAD |
|
|
rs1554345441 COSM3778570 CA367940532 |
275 | P>A | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA367940541 rs1554345442 |
276 | S>F | No |
ClinGen gnomAD |
|
|
rs1204394056 CA367940546 |
277 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4296620 rs141111876 |
278 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4296623 rs782117839 |
280 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782117839 CA367940563 |
280 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296624 rs782819541 |
281 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs781885920 CA4296625 |
282 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296628 rs781837025 |
283 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA367940584 rs1554345468 |
283 | D>G | No |
ClinGen gnomAD |
|
|
CA4296627 rs369890081 |
283 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868957167 CA367940593 |
285 | G>C | No |
ClinGen gnomAD |
|
|
CA367940596 rs1374059986 |
285 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA367940591 rs868957167 |
285 | G>S | No |
ClinGen gnomAD |
|
|
CA367940601 rs1297708595 |
286 | L>R | No |
ClinGen TOPMed |
|
|
rs1056806017 CA160160091 |
287 | S>T | No |
ClinGen Ensembl |
|
|
rs373306926 CA4296632 |
288 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782641846 CA4296630 |
288 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782306237 CA4296635 |
290 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782306237 CA367940620 |
290 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296634 rs376986936 |
290 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA367940629 rs1460787997 |
291 | P>R | No |
ClinGen TOPMed |
|
|
rs375600038 CA160160100 |
295 | A>T | No |
ClinGen ESP TOPMed |
|
|
CA367940662 rs1419336210 |
296 | T>S | No |
ClinGen TOPMed |
|
|
CA4296638 rs772196312 |
297 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs782267935 CA4296637 |
297 | G>S | Variant assessed as Somatic; 4.814e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA160160112 rs772196312 |
297 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA367940672 rs1456802626 |
298 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1554345508 CA367940700 |
302 | S>Y | No |
ClinGen gnomAD |
|
|
rs1214696810 CA367940703 |
303 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1214696810 CA367940705 |
303 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA367940714 rs1554345513 |
304 | C>Y | No |
ClinGen Ensembl |
|
|
CA4296658 rs782595322 |
306 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs782180326 CA4296659 |
307 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4296661 rs587745910 |
309 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA367940765 rs1202343386 |
310 | T>A | No |
ClinGen TOPMed |
|
|
CA4296662 rs587619221 |
310 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782035876 CA4296664 |
311 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA4296666 rs371044326 |
315 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782089816 CA4296668 |
317 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296672 rs587705657 |
320 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4296671 rs587705657 |
320 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1314935908 CA367940830 |
321 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1229021132 CA367940833 |
321 | H>R | No |
ClinGen TOPMed |
|
|
CA4296674 rs782451671 |
322 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782212975 CA4296676 |
325 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs863223350 CA367940856 |
325 | R>S | No |
ClinGen gnomAD |
|
|
CA367940861 rs1584589580 |
326 | I>V | No |
ClinGen Ensembl |
|
|
CA367940869 rs1400692695 |
327 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA367940870 rs1400692695 |
327 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs782629967 CA4296678 |
327 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 328 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367940886 rs1554345920 |
330 | I>V | No |
ClinGen gnomAD |
|
|
CA4296680 rs375731564 |
331 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781929855 CA4296681 |
332 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296682 rs782176892 |
334 | K>Q | No |
ClinGen ExAC |
|
|
CA367940916 rs1554345929 |
334 | K>R | No |
ClinGen gnomAD |
|
|
CA4296704 rs781924063 |
337 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 339 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM195917 CA4296706 rs587659375 |
340 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA367941009 rs1554346652 |
343 | K>R | No |
ClinGen gnomAD |
|
|
rs782799091 CA367941028 |
346 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296709 rs782799091 |
346 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554346667 CA367941053 |
349 | N>S | No |
ClinGen gnomAD |
|
|
rs782062310 CA4296711 |
350 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4296713 rs587749109 COSM1743464 |
352 | R>Q | biliary_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4296715 rs782645926 |
361 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 362 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 366 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367941209 rs1554348226 |
370 | D>N | No |
ClinGen gnomAD |
|
|
CA367941219 rs1554348229 |
371 | H>Y | No |
ClinGen gnomAD |
|
|
rs781948929 CA4296747 |
372 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA367941240 rs1554348237 |
374 | P>A | No |
ClinGen gnomAD |
|
|
rs1216681097 CA367941249 |
375 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA367941256 rs1554348251 |
376 | P>L | No |
ClinGen gnomAD |
|
|
CA4296751 rs782074135 |
378 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM77823 CA367941268 rs1554348257 |
378 | R>W | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs781968361 CA4296753 |
380 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs782772464 CA4296755 |
386 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296756 rs781858726 |
388 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199706167 CA4296757 |
390 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587733468 CA4296758 |
392 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4296759 rs781805917 |
392 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782435637 CA4296760 |
393 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1554348290 CA367941387 |
395 | K>N | No |
ClinGen gnomAD |
|
|
CA367941396 rs782523577 |
397 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4296764 rs782621927 |
397 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs782523577 CA4296763 |
397 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1384263020 CA367941417 |
400 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1554348298 COSM747135 CA367941418 |
400 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 402 | C>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782738888 CA160164114 |
403 | T>A | No |
ClinGen gnomAD |
|
|
CA367941458 rs1583805103 |
406 | V>A | No |
ClinGen Ensembl |
|
|
CA4296769 rs782338698 |
408 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs782113777 CA4296771 |
411 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 415 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367941510 rs1554348324 |
415 | E>K | No |
ClinGen gnomAD |
|
|
rs782014176 CA4296773 |
420 | H>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA367941569 rs1554348337 |
423 | I>V | No |
ClinGen gnomAD |
|
|
CA367941606 rs1323141078 |
426 | M>L | No |
ClinGen TOPMed |
|
|
CA367941640 rs782636289 |
430 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369252514 CA4296803 |
430 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4296822 rs782731574 |
440 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA367941734 rs1583823273 |
441 | T>P | No |
ClinGen Ensembl |
|
|
CA4296823 rs377651134 |
442 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782737917 CA160166238 |
444 | L>M | No |
ClinGen Ensembl |
|
|
rs782293250 CA4296826 |
447 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296825 rs782634912 |
447 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4296827 rs782532731 |
449 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296828 rs782532731 |
449 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367941798 rs1554350133 |
451 | E>V | No |
ClinGen gnomAD |
|
|
rs1554350137 CA367941814 |
453 | T>I | No |
ClinGen gnomAD |
|
|
CA4296831 rs782000084 |
457 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA367941843 rs1554350150 |
458 | S>C | No |
ClinGen gnomAD |
|
|
CA4296832 rs782250558 |
458 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA367941858 rs1583823430 |
461 | T>P | No |
ClinGen Ensembl |
|
|
rs587684351 CA4296835 |
462 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs386714716 CA918045916 |
469 | A>F | No |
ClinGen Ensembl |
|
|
rs138821622 CA4296838 |
469 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4296839 rs587691164 |
469 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM221496 CA4296841 rs782551033 |
470 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4296840 rs781852918 |
470 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587613656 CA4296875 |
473 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4296874 rs144040168 |
473 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554350660 CA367941955 |
474 | G>S | No |
ClinGen gnomAD |
|
|
CA4296876 rs368607820 |
475 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367941961 rs1554350663 |
475 | S>R | No |
ClinGen gnomAD |
|
|
rs1554350669 CA367941974 |
476 | M>I | No |
ClinGen gnomAD |
|
|
CA367941998 rs1258969811 |
479 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs782273436 CA4296878 |
481 | G>E | No |
ClinGen ExAC |
|
| TCGA novel | 481 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367942042 rs1187909187 |
484 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1486029823 CA367942047 |
485 | S>C | No |
ClinGen TOPMed |
|
|
rs1554350865 CA367942049 |
486 | G>R | No |
ClinGen gnomAD |
|
|
CA4296900 rs782654667 |
487 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs373752728 CA4296902 |
490 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA160166623 rs373752728 |
490 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782027035 CA4296903 |
491 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs587689680 CA4296904 |
493 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781972897 CA4296906 |
494 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1583829992 CA367942103 |
495 | K>R | No |
ClinGen Ensembl |
|
|
CA367942114 rs1311975684 |
497 | E>K | No |
ClinGen TOPMed |
|
|
CA367942128 rs1299719807 |
499 | E>K | No |
ClinGen TOPMed |
|
|
CA367942141 rs1554350906 |
500 | D>V | No |
ClinGen gnomAD |
|
|
rs782795096 CA4296911 |
508 | V>A | No |
ClinGen ExAC |
|
|
rs782200582 CA4296910 |
508 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781809509 CA4296912 |
509 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA367942223 rs1583833304 |
510 | D>A | No |
ClinGen Ensembl |
|
|
CA367942202 rs1362974073 |
510 | D>N | No |
ClinGen TOPMed |
|
|
CA4296935 rs782722515 |
512 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296937 rs782491461 |
513 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA367942249 rs1411614314 |
514 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA367942247 rs1411614314 |
514 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1435196211 CA367942256 |
516 | E>K | No |
ClinGen TOPMed |
|
|
CA367942268 rs1268274407 |
517 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA367942277 rs1554351266 |
518 | M>T | No |
ClinGen gnomAD |
|
|
rs1554351268 CA367942288 |
520 | D>H | No |
ClinGen gnomAD |
|
|
CA4296938 rs782281946 |
521 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367942314 rs1269971374 |
523 | P>L | No |
ClinGen TOPMed |
|
|
CA367942326 rs1583833484 |
525 | H>P | No |
ClinGen Ensembl |
|
|
CA367942323 rs1554351282 |
525 | H>Y | No |
ClinGen gnomAD |
|
|
CA367942335 rs1209220038 |
527 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4296943 rs376607848 |
528 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367942344 rs376607848 |
528 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4296946 rs200735852 |
530 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367942369 rs1384600032 |
532 | G>D | No |
ClinGen TOPMed |
|
|
rs1390118167 CA367942400 |
536 | E>D | No |
ClinGen TOPMed |
|
|
CA4296947 rs587621805 |
536 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA367942408 rs1554351304 |
537 | M>I | No |
ClinGen gnomAD |
|
|
CA367942406 rs1554351302 |
537 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 540 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367942457 rs1554352711 |
542 | G>D | No |
ClinGen gnomAD |
|
|
rs1554352708 CA367942453 |
542 | G>R | No |
ClinGen gnomAD |
|
|
CA4296963 rs782426480 |
544 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs782194601 CA367942484 |
546 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144556263 CA4296966 |
547 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144556263 CA4296967 |
547 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147430261 CA4296968 RCV000886644 |
547 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs781976290 CA367942490 |
548 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296972 rs781976290 |
548 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360503761 CA4296970 |
548 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs201240311 CA4296974 |
550 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296975 rs781800562 |
553 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4296978 rs377546526 |
554 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3358163 rs782518972 CA4296979 |
555 | E>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1554353080 CA367942562 |
557 | S>T | No |
ClinGen gnomAD |
|
|
rs34974342 CA160168037 |
558 | H>P | No |
ClinGen gnomAD |
|
|
CA367942568 rs34974342 |
558 | H>R | No |
ClinGen gnomAD |
|
|
rs782304881 CA4296991 |
559 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782076022 CA4296993 |
561 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4296994 rs782789787 |
562 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs377293896 CA4296996 |
563 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782037739 CA4296995 |
563 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781792744 CA4296998 |
564 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4297001 rs781875253 |
566 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782729401 CA4297000 |
566 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA4297002 rs782501602 |
567 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554353109 CA367942623 |
568 | Q>R | No |
ClinGen gnomAD |
|
|
CA367942627 rs1554353111 |
569 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 570 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554353117 CA367942642 |
571 | L>V | No |
ClinGen gnomAD |
|
|
rs782562648 CA4297006 |
576 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1578160 CA4297007 rs189364984 |
576 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4297008 rs189364984 |
576 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782742955 CA4297038 |
579 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 580 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781823433 CA4297039 |
581 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA367943322 rs1554353467 |
581 | I>V | No |
ClinGen gnomAD |
|
|
CA367943349 rs1554353471 |
583 | I>V | No |
ClinGen gnomAD |
|
|
CA4297041 rs782763497 |
584 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs781842329 CA4297045 |
587 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA367943475 rs1554353483 |
590 | P>L | No |
ClinGen gnomAD |
|
|
rs1554353492 CA367943522 |
593 | K>N | No |
ClinGen gnomAD |
|
|
rs1554353500 CA367943577 |
597 | H>Y | No |
ClinGen gnomAD |
|
|
CA367943603 rs1207019184 |
598 | P>R | No |
ClinGen TOPMed |
|
|
rs782252328 CA4297048 |
604 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 608 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782672352 CA4297050 |
609 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs782184896 CA4297051 |
610 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782299130 CA4297052 |
612 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781962504 CA4297053 |
613 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs782204694 CA4297054 |
613 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367943835 rs1554353532 |
614 | R>S | No |
ClinGen gnomAD |
|
|
CA4297055 rs368511757 |
616 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554353543 CA367943891 |
618 | F>L | No |
ClinGen gnomAD |
|
|
rs1454226137 CA367943911 |
619 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1402326965 CA367943934 |
620 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs368196506 CA4297057 |
621 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367943966 rs782717036 |
622 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs781919005 CA4297059 |
624 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367944040 rs1554353578 |
628 | E>K | No |
ClinGen gnomAD |
|
|
CA367944259 rs1554353587 |
639 | R>K | No |
ClinGen gnomAD |
|
|
CA367945451 rs1327360798 |
640 | P>L | No |
ClinGen TOPMed |
|
|
rs61754868 CA4297083 |
641 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4297085 rs781865093 |
644 | T>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1739390 rs1554356319 CA367945512 |
645 | E>K | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs782511087 CA4297086 |
647 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs782673656 CA4297087 |
648 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs782278562 CA4297088 |
648 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4297091 rs782218162 |
651 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4297092 rs2301895 VAR_013446 |
652 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA367945658 rs1437269892 |
654 | S>G | No |
ClinGen TOPMed |
|
|
rs1554356463 CA367945784 |
658 | A>D | No |
ClinGen gnomAD |
|
|
CA367945777 rs797034483 |
658 | A>S | No |
ClinGen Ensembl |
|
|
CA367945788 rs1554356465 |
659 | S>P | No |
ClinGen gnomAD |
|
|
CA367945811 rs1429756085 |
660 | S>L | No |
ClinGen TOPMed |
|
|
rs1391362371 CA367945834 |
662 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4297114 rs782209153 |
664 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA367945904 rs1583873518 |
667 | A>T | No |
ClinGen Ensembl |
|
|
CA367945934 rs1554356486 |
669 | P>S | No |
ClinGen gnomAD |
|
|
CA4297117 rs782156524 |
671 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA367945958 rs1554356492 |
672 | R>G | No |
ClinGen gnomAD |
|
|
rs1554356495 CA367945975 |
674 | S>A | No |
ClinGen gnomAD |
|
|
CA4297119 rs373532545 |
675 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367945984 rs1554356508 |
676 | D>H | No |
ClinGen gnomAD |
|
|
CA4297120 rs782099626 |
677 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA367945996 rs782099626 |
677 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs782723402 CA4297121 |
678 | L>P | No |
ClinGen ExAC |
|
|
rs587753980 CA4297123 |
679 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4297125 rs145912521 |
681 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1227473153 CA367946043 |
685 | R>G | No |
ClinGen TOPMed |
|
|
CA367946047 rs781830372 |
685 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA4297129 rs782475397 |
688 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA367946092 rs1298467486 |
690 | E>G | No |
ClinGen TOPMed |
|
|
rs782645935 CA4297130 |
690 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs146632231 CA4297150 |
694 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4297151 rs782209466 |
694 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs782628282 CA4297153 |
695 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554357487 CA367946132 |
696 | L>F | No |
ClinGen gnomAD |
|
|
CA4297154 rs201385500 |
697 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367946143 rs1554357510 |
698 | R>Q | No |
ClinGen gnomAD |
|
|
COSM268264 CA367946141 rs1554357499 |
698 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
RCV000894761 CA4297155 rs149209759 |
699 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4297157 rs782188432 |
700 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367946161 rs1554357533 |
701 | I>F | No |
ClinGen gnomAD |
|
|
CA4297160 rs782119956 |
702 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367946166 rs782119956 |
702 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457500701 CA367946175 |
703 | N>S | No |
ClinGen TOPMed |
|
|
CA367946184 rs1554357556 |
704 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 710 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 710 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199551317 CA4297161 |
711 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367946235 rs1335619582 |
712 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1283671483 CA367946258 |
715 | K>E | No |
ClinGen TOPMed |
|
|
CA4297162 rs782026215 |
715 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs782146707 CA4297163 |
716 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA4297165 rs758790855 |
717 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs758790855 | 717 | Y>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367946277 rs1562868276 |
718 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 718 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237058123 CA367946846 |
724 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 727 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1583884412 CA367946985 |
732 | K>R | No |
ClinGen Ensembl |
|
|
CA4297197 rs782612147 |
733 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA367946996 rs1554358155 |
733 | R>W | No |
ClinGen gnomAD |
|
|
rs782374897 CA367947082 |
739 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4297199 rs782374897 |
739 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868974782 CA367947101 |
740 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 741 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376087010 CA4297201 |
741 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM602065 rs1554358182 CA367947146 |
744 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA367947236 rs1554358186 |
751 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1554358186 CA367947232 |
751 | P>Q | No |
ClinGen gnomAD |
|
|
CA4297208 rs782124923 |
759 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1698763 rs782815982 CA4297209 |
760 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs782469294 CA4297211 |
768 | A>S | No |
ClinGen ExAC |
|
|
CA367947511 rs1554358216 |
773 | I>V | No |
ClinGen gnomAD |
|
|
CA367947524 rs1554358217 |
774 | K>E | No |
ClinGen gnomAD |
|
|
rs782052702 CA160169917 |
776 | T>I | No |
ClinGen Ensembl |
|
|
CA4297212 rs782694068 |
779 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4297228 rs200826932 |
780 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200826932 CA367947618 |
780 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782097408 CA4297230 |
783 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1220138561 CA367947681 |
785 | I>V | No |
ClinGen TOPMed |
|
|
CA367947695 rs1554358464 |
786 | P>S | No |
ClinGen gnomAD |
|
|
rs1489185742 CA367947704 |
787 | K>E | No |
ClinGen TOPMed |
|
|
rs782746715 CA4297231 |
787 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA4297249 rs782754142 |
789 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1554368887 CA367991550 |
791 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 792 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201551557 CA4297251 |
793 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1452943191 CA367991571 |
794 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1404849177 CA367991577 |
795 | R>K | No |
ClinGen TOPMed |
|
|
CA4297252 rs782695336 |
795 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4297253 rs781834890 |
796 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4297256 rs150426012 |
797 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4297255 rs782770954 |
797 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587668148 CA367991627 |
803 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs587668148 CA4297258 |
803 | R>Q | Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4297259 rs781809169 |
805 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4297260 rs782440807 |
805 | Q>H | No |
ClinGen ExAC |
|
|
rs781809169 CA367991636 |
805 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA367991639 rs1554368929 |
805 | Q>R | No |
ClinGen gnomAD |
|
|
rs148790797 CA4297262 |
812 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375764249 CA367991707 |
814 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1583974479 CA367991760 |
821 | N>T | No |
ClinGen Ensembl |
|
|
rs189240558 CA4297286 |
822 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782352221 CA4297285 |
822 | R>W | No |
ClinGen ExAC |
|
| TCGA novel | 823 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367991772 rs1400888335 |
823 | P>R | No |
ClinGen TOPMed |
|
|
rs1465007870 CA367991778 |
824 | V>A | No |
ClinGen TOPMed |
|
|
CA4297289 rs782030041 |
826 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA4297292 rs781925026 |
832 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1554369312 CA367991825 |
832 | R>W | No |
ClinGen gnomAD |
|
|
rs1554369324 CA367991839 |
834 | S>N | No |
ClinGen gnomAD |
|
|
rs782725170 CA4297294 |
837 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367991863 rs1189889175 |
838 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 839 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1583974693 CA367991880 |
840 | V>G | No |
ClinGen Ensembl |
|
|
rs782005017 CA4297295 |
841 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367991888 rs1554369339 |
842 | G>S | No |
ClinGen gnomAD |
|
|
rs1554369341 CA367991895 |
843 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 844 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782812850 CA4297297 COSM1452041 |
846 | D>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1554369351 CA367991928 |
848 | P>S | No |
ClinGen gnomAD |
|
|
CA4297298 rs374109819 |
850 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367991941 rs1554369353 |
850 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4297299 rs782435591 |
851 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4297300 rs142793583 |
854 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4297303 rs782620258 COSM272756 |
856 | D>N | Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4297304 COSM311681 rs782620258 |
856 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA367991994 rs1293598589 |
858 | H>Y | No |
ClinGen TOPMed |
|
|
CA4297307 rs372786161 |
859 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368204735 CA4297306 |
859 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1392601535 CA367992017 |
862 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1554369383 CA367992026 |
863 | I>F | No |
ClinGen gnomAD |
|
|
rs1352922533 CA367992029 |
863 | I>S | No |
ClinGen TOPMed |
|
|
rs782358460 CA4297308 |
865 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4297309 rs781960714 |
867 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367992077 rs1554369399 |
871 | R>C | No |
ClinGen gnomAD |
|
|
CA367992078 rs1554369405 |
871 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 872 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782132899 CA4297311 CA4297310 |
876 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139783435 CA4297312 |
877 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782699522 CA4297314 |
878 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4297332 rs781997588 |
880 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA4297334 rs782429723 |
882 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs782105160 CA4297333 |
882 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs587702192 CA4297336 |
884 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781847255 CA4297338 |
886 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554371783 CA367992236 |
889 | K>R | No |
ClinGen gnomAD |
|
|
CA367992255 rs1554371789 |
891 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 893 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367992657 rs1554373834 |
894 | D>E | No |
ClinGen gnomAD |
|
|
CA4297368 rs587757377 |
894 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4297370 rs782370026 |
895 | S>R | No |
ClinGen ExAC |
|
|
rs1554373840 CA367992683 |
898 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 898 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4297373 rs201071085 |
900 | R>C | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4297374 rs587688217 COSM331564 |
900 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA4297375 rs587688217 |
900 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4297372 rs201071085 |
900 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM390301 CA4297376 rs782329453 |
901 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 902 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367992707 rs1554373864 |
902 | R>K | No |
ClinGen gnomAD |
|
|
rs375183551 CA4297378 |
904 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4297377 COSM1091675 rs782283712 |
904 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4297380 rs111471078 |
906 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4297382 rs782792046 |
910 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1562907338 CA367992761 |
911 | V>D | No |
ClinGen Ensembl |
|
|
rs782411034 CA367992760 |
911 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782411034 COSM3953156 CA4297384 |
911 | V>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4297385 rs782743813 |
912 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781827989 CA4297387 |
915 | S>T | No |
ClinGen ExAC gnomAD |
|
|
COSM4153069 rs782520075 CA4297388 |
916 | S>L | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA160860888 rs1051704699 |
917 | S>F | No |
ClinGen Ensembl |
|
|
rs202109482 CA160860887 |
917 | S>P | No |
ClinGen 1000Genomes |
|
|
CA4297390 rs782292511 |
921 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143878229 CA4297392 |
925 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4297395 rs781996498 |
926 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA367992843 rs782343426 |
926 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs782343426 CA4297394 |
926 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA367992862 rs587722621 |
929 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs587722621 CA4297397 |
929 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1554373934 CA367992871 |
930 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA367992872 rs1554373936 |
931 | A>T | No |
ClinGen gnomAD |
|
|
rs782011096 CA4297398 |
932 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs782060982 CA4297401 |
937 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782124958 CA4297421 |
941 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs782422796 CA4297422 |
943 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA367993209 rs1554374408 |
944 | V>L | No |
ClinGen gnomAD |
|
|
rs781880515 CA4297424 |
945 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4297423 rs781880515 |
945 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA367993225 rs1554374412 |
946 | Y>C | No |
ClinGen gnomAD |
|
|
rs868932568 CA367993234 |
947 | A>V | No |
ClinGen Ensembl |
|
|
rs1554374416 CA367993237 |
948 | G>D | No |
ClinGen gnomAD |
|
|
rs781841392 CA4297426 |
948 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4297430 rs782544540 |
951 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA367993265 rs1217414961 |
952 | Q>H | No |
ClinGen TOPMed |
|
|
CA4297431 rs782570464 |
953 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA4297432 rs373017607 |
954 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367993289 rs1239752638 |
957 | L>V | No |
ClinGen TOPMed |
|
|
CA367993309 rs1346088112 |
959 | Y>* | No |
ClinGen TOPMed |
1 associated diseases with Q9UHL9
Without disease ID
5 regional properties for Q9UHL9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | GTF2I-like repeat | 119 - 213 | IPR004212-1 |
| repeat | GTF2I-like repeat | 342 - 436 | IPR004212-2 |
| repeat | GTF2I-like repeat | 556 - 650 | IPR004212-3 |
| repeat | GTF2I-like repeat | 696 - 790 | IPR004212-4 |
| repeat | GTF2I-like repeat | 793 - 887 | IPR004212-5 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription repressor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
| transition between slow and fast fiber | The process of conversion of slow-contracting muscle fibers to a faster character. This may involve increasing of contractile rate, fast myosin gene induction, increase in glycolytic metabolic properties, altered electrophysiology and altered innervation. This process also regulates skeletal muscle adapatation. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A7MB80 | GTF2I | General transcription factor II-I | Bos taurus (Bovine) | PR |
| A4IFA3 | GTF2IRD2 | General transcription factor II-I repeat domain-containing protein 2 | Bos taurus (Bovine) | PR |
| P78347 | GTF2I | General transcription factor II-I | Homo sapiens (Human) | PR |
| Q6EKJ0 | GTF2IRD2B | General transcription factor II-I repeat domain-containing protein 2B | Homo sapiens (Human) | PR |
| Q86UP8 | GTF2IRD2 | General transcription factor II-I repeat domain-containing protein 2A | Homo sapiens (Human) | PR |
| Q9ESZ8 | Gtf2i | General transcription factor II-I | Mus musculus (Mouse) | PR |
| Q9JI57 | Gtf2ird1 | General transcription factor II-I repeat domain-containing protein 1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALLGKRCDV | PTNGCGPDRW | NSAFTRKDEI | ITSLVSALDS | MCSALSKLNA | EVACVAVHDE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SAFVVGTEKG | RMFLNARKEL | QSDFLRFCRG | PPWKDPEAEH | PKKVQRGEGG | GRSLPRSSLE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HGSDVYLLRK | MVEEVFDVLY | SEALGRASVV | PLPYERLLRE | PGLLAVQGLP | EGLAFRRPAE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YDPKALMAIL | EHSHRIRFKL | KRPLEDGGRD | SKALVELNGV | SLIPKGSRDC | GLHGQAPKVP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PQDLPPTATS | SSMASFLYST | ALPNHAIREL | KQEAPSCPLA | PSDLGLSRPM | PEPKATGAQD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FSDCCGQKPT | GPGGPLIQNV | HASKRILFSI | VHDKSEKWDA | FIKETEDINT | LRECVQILFN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SRYAEALGLD | HMVPVPYRKI | ACDPEAVEIV | GIPDKIPFKR | PCTYGVPKLK | RILEERHSIH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FIIKRMFDER | IFTGNKFTKD | TTKLEPASPP | EDTSAEVSRA | TVLDLAGNAR | SDKGSMSEDC |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GPGTSGELGG | LRPIKIEPED | LDIIQVTVPD | PSPTSEEMTD | SMPGHLPSED | SGYGMEMLTD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KGLSEDARPE | ERPVEDSHGD | VIRPLRKQVE | LLFNTRYAKA | IGISEPVKVP | YSKFLMHPEE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LFVVGLPEGI | SLRRPNCFGI | AKLRKILEAS | NSIQFVIKRP | ELLTEGVKEP | IMDSQGTASS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LGFSPPALPP | ERDSGDPLVD | ESLKRQGFQE | NYDARLSRID | IANTLREQVQ | DLFNKKYGEA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LGIKYPVQVP | YKRIKSNPGS | VIIEGLPPGI | PFRKPCTFGS | QNLERILAVA | DKIKFTVTRP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| FQGLIPKPDE | DDANRLGEKV | ILREQVKELF | NEKYGEALGL | NRPVLVPYKL | IRDSPDAVEV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TGLPDDIPFR | NPNTYDIHRL | EKILKAREHV | RMVIINQLQP | FAEICNDAKV | PAKDSSIPKR |
| 910 | 920 | 930 | 940 | 950 | |
| KRKRVSEGNS | VSSSSSSSSS | SSSNPDSVAS | ANQISLVQWP | MYMVDYAGLN | VQLPGPLNY |