Q7Z6B7
PR
Gene name |
SRGAP1 (ARHGAP13, KIAA1304) |
Protein name |
SLIT-ROBO Rho GTPase-activating protein 1 |
Names |
srGAP1, Rho GTPase-activating protein 13 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57522 |
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 Q7Z6B7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7Z6B7-F1 | Predicted | AlphaFoldDB |
738 variants for Q7Z6B7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000190471 CA204459 CA385662856 rs781626187 VAR_075879 |
149 | Q>H | Thyroid cancer, nonmedullary, 2 NMTC2; does not affect the interaction with ROBO1; decreased GTPase activator activity; in SLIT2 and ROBO1-mediated inhibition of CDC42 [ClinVar, UniProt] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar UniProt dbSNP |
|
RCV001198764 rs2035064004 |
245 | L>missing | Thyroid cancer, nonmedullary, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000845117 RCV001254705 CA385585217 rs1208074975 |
269 | C>Y | Nephronophthisis Congenital anomaly of kidney and urinary tract [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA204461 rs797044990 RCV000190472 VAR_075880 |
275 | A>T | Thyroid cancer, nonmedullary, 2 NMTC2; does not affect the interaction with ROBO1; slightly increased GTPase activator activity; in SLIT2 and ROBO1-mediated inhibition of CDC42 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_075882 RCV000190473 CA204463 rs114817817 |
617 | R>C | Thyroid cancer, nonmedullary, 2 NMTC2; does not affect the interaction with ROBO1; decreased GTPase activator activity; in SLIT2 and ROBO1-mediated inhibition of CDC42 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001254691 CA385589719 RCV000845118 rs1592332125 |
665 | P>T | Congenital anomalies of kidney and urinary tract 1 Congenital anomaly of kidney and urinary tract [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6667054 RCV001328151 rs748723181 |
856 | P>A | Congenital anomaly of kidney and urinary tract [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs61754221 RCV000964514 VAR_075883 CA6667069 |
875 | H>R | NMTC2; does not affect the interaction with ROBO1; slightly increased GTPase activator activity; in SLIT2 and ROBO1-mediated inhibition of CDC42 [UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6666296 rs772665363 |
2 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA385660728 rs1463706382 |
2 | S>Y | No |
ClinGen TOPMed |
|
|
CA6666297 rs776164183 |
3 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs769033327 CA6666299 |
4 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6666300 rs776927654 |
4 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769033327 CA238834669 |
4 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6666302 rs145629853 |
10 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1269419421 CA385660806 |
14 | I>V | No |
ClinGen gnomAD |
|
|
CA385660816 rs1406057009 |
15 | A>G | No |
ClinGen gnomAD |
|
|
CA385660827 rs1456952622 |
17 | Y>H | No |
ClinGen gnomAD |
|
|
rs767059239 CA6666305 |
19 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1326469117 CA385660858 |
21 | V>L | No |
ClinGen gnomAD |
|
|
rs1353243670 CA385660889 |
23 | E>A | No |
ClinGen gnomAD |
|
|
rs1374155186 CA385660909 |
26 | A>V | No |
ClinGen TOPMed |
|
|
CA6666328 rs765130450 |
29 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA238849776 rs747230972 |
29 | V>L | No |
ClinGen Ensembl |
|
|
rs905340918 CA238849777 |
32 | Q>R | No |
ClinGen TOPMed |
|
|
CA238849778 rs565753741 |
37 | Q>R | No |
ClinGen 1000Genomes |
|
|
rs142813451 CA6666329 |
39 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385661006 rs1188764695 |
40 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 41 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751706565 CA6666332 |
42 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs771599599 CA238849779 |
42 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs755450333 CA6666333 |
44 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA385661063 rs142409169 |
49 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385661101 rs1483422708 |
54 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1257527057 CA385661130 |
58 | E>G | No |
ClinGen TOPMed |
|
|
rs778174499 COSM267502 CA6666337 |
61 | T>M | large_intestine Variant assessed as Somatic; 4.659e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6666339 rs771722779 |
63 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA385661177 rs1295975626 |
65 | R>Q | No |
ClinGen gnomAD |
|
|
rs1230082762 CA385661176 |
65 | R>W | No |
ClinGen gnomAD |
|
|
CA385661182 rs1471663317 |
66 | N>H | No |
ClinGen gnomAD |
|
|
CA385661220 rs1211678706 |
71 | A>G | No |
ClinGen gnomAD |
|
|
CA6666342 rs768587506 |
72 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs568627145 CA238849782 |
73 | R>G | No |
ClinGen 1000Genomes |
|
|
rs776408515 CA6666343 |
73 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1363904804 CA385661233 |
73 | R>S | No |
ClinGen Ensembl |
|
|
CA6666344 rs201720400 |
74 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs367605465 CA6666345 |
75 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1430010403 CA385661254 |
76 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763213841 CA6666347 |
82 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs201941344 CA6666349 |
85 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385661339 rs1399068299 |
88 | K>T | No |
ClinGen TOPMed |
|
|
CA6666367 rs774418285 |
94 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1386269728 CA385661989 |
96 | P>A | No |
ClinGen gnomAD |
|
|
rs958119728 CA238850410 |
99 | C>S | No |
ClinGen TOPMed |
|
|
CA385662128 rs1565625514 |
107 | V>A | No |
ClinGen Ensembl |
|
|
CA6666369 rs767479590 |
107 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6666370 rs752831385 |
111 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1335166941 CA385662225 |
115 | A>S | No |
ClinGen gnomAD |
|
|
rs756544021 CA385662293 |
121 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756544021 CA6666371 |
121 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6666372 rs764615652 |
124 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385662347 rs1488156809 |
126 | I>F | No |
ClinGen gnomAD |
|
|
CA6666373 rs754153202 |
126 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs757594295 CA6666374 |
128 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA238850415 rs866227246 COSM549444 |
128 | R>W | lung large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs779288882 CA6666375 |
130 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1249499773 CA385662409 |
131 | Q>E | No |
ClinGen gnomAD |
|
|
rs746638215 CA6666376 |
132 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6666377 rs754717470 |
135 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1195236544 CA385662468 |
136 | S>Y | No |
ClinGen TOPMed |
|
|
CA385662485 rs1348640483 |
139 | M>L | No |
ClinGen gnomAD |
|
|
CA385662495 rs1188930501 |
140 | F>L | No |
ClinGen TOPMed |
|
|
rs1242283677 CA385662818 |
144 | K>R | No |
ClinGen TOPMed |
|
|
CA238853315 COSM942430 rs1043335639 |
145 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA385662836 rs1297562528 COSM942431 |
147 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1345617638 CA385662852 |
149 | Q>* | No |
ClinGen TOPMed |
|
|
CA385662868 rs1430830690 |
151 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA238853316 rs903466520 |
153 | D>G | No |
ClinGen TOPMed |
|
|
rs1203803009 CA385662909 |
156 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1486380636 CA385662913 |
157 | V>A | No |
ClinGen gnomAD |
|
|
CA6666398 rs749220720 |
157 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207540171 CA385662917 |
158 | L>F | No |
ClinGen gnomAD |
|
|
CA385662927 rs1361325627 |
159 | N>K | No |
ClinGen TOPMed |
|
|
CA385662937 rs1160498518 |
161 | L>I | No |
ClinGen TOPMed |
|
| TCGA novel | 161 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385662953 rs1593046326 |
163 | T>A | No |
ClinGen Ensembl |
|
|
rs771001102 CA6666399 |
163 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA385664323 rs1479014012 COSM942439 |
167 | T>A | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs752370421 CA6666415 |
170 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA385664380 rs1476787265 |
172 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 173 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385664405 rs1460946520 |
174 | E>D | No |
ClinGen Ensembl |
|
|
rs777357525 CA6666418 |
174 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA385664462 rs1448243648 |
180 | S>G | No |
ClinGen TOPMed |
|
|
rs1326431924 CA385664522 |
185 | A>D | No |
ClinGen gnomAD |
|
|
CA6666421 rs141758307 |
186 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA385664564 rs969430512 |
189 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 189 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs969430512 CA238856120 |
189 | E>V | No |
ClinGen TOPMed |
|
|
CA385664569 rs1273775741 |
190 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1432909172 CA385664627 |
195 | R>T | No |
ClinGen TOPMed |
|
|
CA385664645 rs1338782333 |
197 | G>D | No |
ClinGen TOPMed |
|
|
rs1229801522 CA385664664 |
199 | P>L | No |
ClinGen gnomAD |
|
|
rs771869190 CA6666423 |
202 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385664697 rs779779011 |
203 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779779011 CA6666424 |
203 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747219637 CA6666425 |
204 | R>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 206 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768879478 CA6666426 |
207 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1463894028 CA385664750 |
209 | H>Y | No |
ClinGen TOPMed |
|
|
rs368912734 CA6666428 |
211 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6666427 rs201075531 |
211 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773750433 CA6666430 |
212 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 213 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593071417 CA919106214 |
215 | V>L | No |
ClinGen Ensembl |
|
|
rs773252927 CA385664881 |
218 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs773252927 CA6666431 |
218 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1235232494 CA385664877 |
218 | I>V | No |
ClinGen TOPMed |
|
|
CA385664894 rs1180289585 |
219 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| rs772889354 | 221 | M>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771343122 CA6666452 |
225 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs774814377 CA6666453 |
227 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768041384 CA6666455 |
228 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA385665105 rs1343584323 |
231 | E>Q | No |
ClinGen gnomAD |
|
|
rs761439532 CA6666457 |
234 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA6666458 rs563774540 |
235 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6666460 rs150469928 |
237 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6666459 rs150469928 |
237 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138338037 CA6666462 |
240 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766337005 COSM942440 CA6666461 |
240 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA385665172 rs1186644354 |
241 | N>I | No |
ClinGen gnomAD |
|
|
rs757146054 CA238856166 |
242 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6666463 rs754748539 |
243 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs781008236 CA6666464 |
246 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 246 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385665229 rs1276253224 |
250 | T>I | No |
ClinGen TOPMed |
|
|
rs377049218 CA6666465 |
251 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756353402 CA6666466 |
251 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385665237 rs1399688346 |
252 | A>T | No |
ClinGen gnomAD |
|
|
CA6666468 rs749355255 |
258 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs771513856 CA6666469 |
260 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs774973950 CA6666470 |
260 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6666471 rs746415823 |
262 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 262 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772558940 CA6666472 |
267 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA385665342 rs1565654096 |
267 | D>Y | No |
ClinGen Ensembl |
|
|
rs777877508 CA6666485 |
268 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208074975 CA385585219 |
269 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1310422663 CA385585215 |
269 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1313471934 CA385585226 |
270 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 270 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6666486 rs754137240 |
272 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6666487 rs114508252 |
273 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772720206 CA6666490 |
274 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6666489 rs77397108 |
274 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385585262 rs1465503377 |
276 | S>N | No |
ClinGen gnomAD |
|
|
CA238191559 rs947565208 |
280 | A>V | No |
ClinGen Ensembl |
|
|
rs1182372782 CA385585292 |
281 | L>I | No |
ClinGen gnomAD |
|
|
CA385585315 rs1157485464 |
284 | Y>* | No |
ClinGen gnomAD |
|
|
rs769440054 CA6666493 |
284 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6666494 rs772719836 |
285 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1345079612 CA385585318 |
285 | L>V | No |
ClinGen gnomAD |
|
|
rs770426933 CA6666496 |
287 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA385585343 rs1352633062 |
289 | Y>C | No |
ClinGen gnomAD |
|
|
CA6666498 rs759415074 |
289 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA6666499 rs767469843 |
291 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385585379 rs1322131270 |
294 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6666501 rs760361145 |
295 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6666503 rs367757661 |
296 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763987787 CA6666502 |
296 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA385585393 rs1565663350 |
297 | E>Q | No |
ClinGen Ensembl |
|
|
rs1013359299 CA238191672 |
298 | G>A | No |
ClinGen gnomAD |
|
|
rs1253513830 CA385585419 |
300 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1565663365 CA385585422 |
301 | I>F | No |
ClinGen Ensembl |
|
|
rs542720477 CA6666505 |
302 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1407652673 CA385585472 |
308 | N>I | No |
ClinGen gnomAD |
|
|
rs750534559 CA6666506 |
309 | L>V | No |
ClinGen ExAC |
|
|
rs371278918 CA6666507 |
310 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 312 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385585501 CA6666508 rs780449158 |
312 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747601728 CA385585509 |
313 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6666510 rs768873949 |
314 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142448927 CA6666511 |
321 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs563035863 CA238191687 |
322 | Y>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6666512 rs145973371 |
323 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6666513 rs770588443 |
324 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs773806400 CA6666514 COSM1363573 |
325 | A>V | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 326 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 326 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6666516 rs771658622 |
328 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6666517 rs775257660 |
329 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385585626 rs1318171394 |
330 | M>I | No |
ClinGen gnomAD |
|
|
CA385585621 rs139894551 |
330 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6666518 rs139894551 |
330 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6666520 rs776580465 |
332 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6666521 rs374079925 |
333 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6666523 rs750481462 |
337 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs765587555 CA6666522 |
337 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1436907399 CA385585698 |
340 | D>G | No |
ClinGen gnomAD |
|
|
rs1276443424 CA385585706 |
341 | E>G | No |
ClinGen gnomAD |
|
|
CA6666533 rs372859165 |
344 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1593093301 CA385585759 |
347 | A>P | No |
ClinGen Ensembl |
|
|
rs1593093309 CA385585769 |
348 | Q>H | No |
ClinGen Ensembl |
|
|
rs1593093305 CA385585766 |
348 | Q>P | No |
ClinGen Ensembl |
|
|
CA385585781 rs1174245917 |
350 | P>A | No |
ClinGen gnomAD |
|
|
rs547820752 CA6666535 |
350 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1457575044 CA385585784 |
351 | V>I | No |
ClinGen gnomAD |
|
|
CA6666536 rs768642644 |
352 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA385585800 rs1429406804 |
353 | A>E | No |
ClinGen gnomAD |
|
|
rs776527298 CA6666537 |
354 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 356 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761722425 CA6666538 |
356 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs773538958 CA385585830 |
358 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs979228100 CA238193100 |
363 | Q>E | No |
ClinGen Ensembl |
|
|
CA385585877 rs1463963135 |
364 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs766358165 CA6666542 |
365 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs530785545 CA6666543 |
365 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375756979 CA6666544 |
368 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385585926 rs1565664464 |
372 | E>G | No |
ClinGen Ensembl |
|
|
CA6666548 rs778174416 |
372 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1565664470 CA385585944 |
374 | E>D | No |
ClinGen Ensembl |
|
|
COSM431649 CA385585993 rs1319353781 |
379 | T>M | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6666577 rs375642946 |
380 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759738800 CA6666579 |
381 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 381 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 385 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775553586 CA6666581 |
386 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385586067 rs1593106789 |
390 | M>I | No |
ClinGen Ensembl |
|
|
CA385586065 rs1471795452 |
390 | M>T | No |
ClinGen gnomAD |
|
|
CA385586072 rs1162879516 |
391 | V>I | No |
ClinGen gnomAD |
|
|
CA385586083 rs1431112244 |
393 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA385586089 rs1395401551 |
394 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 394 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764609174 CA6666583 |
396 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385586114 rs1335323745 |
397 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA238203098 rs267603622 |
400 | E>K | No |
ClinGen Ensembl |
|
|
rs754113179 CA6666584 |
402 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA385586149 rs1342759752 |
402 | F>V | No |
ClinGen gnomAD |
|
|
rs762207000 CA6666585 |
403 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
COSM549440 CA385586160 rs1241454988 |
403 | Q>H | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA385586157 rs1342885778 |
403 | Q>R | No |
ClinGen gnomAD |
|
|
rs765568604 CA6666586 |
406 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6666587 rs751210214 |
406 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1043493648 CA238203149 |
411 | V>M | No |
ClinGen TOPMed |
|
|
rs780779940 CA6666589 |
412 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6666590 rs752266023 |
413 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA385586222 rs752266023 |
413 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6666592 rs777794012 |
414 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs757065762 CA6666594 |
420 | L>M | No |
ClinGen ExAC |
|
|
CA385586305 rs1174000312 |
426 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA385586315 rs775500354 |
427 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6666597 rs114669147 |
427 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376912099 CA238203196 |
435 | T>A | No |
ClinGen ESP TOPMed |
|
|
rs1305000878 CA385586386 |
437 | Q>R | No |
ClinGen TOPMed |
|
|
rs768762999 CA6666601 |
438 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA6666603 rs762283825 |
439 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs777173697 CA6666602 |
439 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA385586411 rs1234192611 |
441 | M>V | No |
ClinGen gnomAD |
|
|
rs1490097806 CA385586442 |
443 | L>V | No |
ClinGen gnomAD |
|
|
rs371634808 CA238204433 |
444 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766885898 CA6666632 |
447 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054032241 CA238204442 |
447 | L>V | No |
ClinGen TOPMed |
|
|
rs559431320 CA385586492 |
450 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6666633 rs559431320 |
450 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6666634 rs760474865 |
452 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA385586509 rs1318793416 |
453 | I>V | No |
ClinGen TOPMed |
|
|
rs763596478 CA6666635 |
454 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753304814 CA6666636 |
458 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6666637 rs373894573 |
459 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA238204489 rs200299873 |
462 | L>F | No |
ClinGen Ensembl |
|
|
rs750401153 CA6666639 |
466 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758168487 CA385586599 |
466 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA238204497 rs865809973 |
466 | T>I | No |
ClinGen Ensembl |
|
|
rs758168487 CA6666640 |
466 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1397321544 CA385586617 |
469 | E>D | No |
ClinGen Ensembl |
|
|
rs761586054 CA6666676 |
471 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs368521108 CA6666677 |
472 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA6666678 rs772713270 |
474 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA385586862 rs1321754625 |
475 | Y>C | No |
ClinGen TOPMed |
|
|
CA238209407 rs1042579358 |
476 | M>I | No |
ClinGen TOPMed |
|
|
rs762817662 CA6666679 |
476 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754154752 CA6666708 |
480 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6666709 rs757392023 |
483 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs765470955 CA6666710 |
484 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6666711 rs750891343 |
487 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA385586950 rs1385013592 |
487 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA385586977 rs1291273862 |
490 | H>Q | No |
ClinGen gnomAD |
|
|
rs747420411 CA6666714 |
494 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6666715 rs755722047 |
496 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755722047 CA385587012 |
496 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6666716 COSM1363577 rs149964620 |
496 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA385587015 rs149964620 |
496 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149180451 CA6666717 |
499 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149180451 CA238212558 |
499 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1182492784 CA385587037 |
500 | N>D | No |
ClinGen gnomAD |
|
|
rs995753585 CA238212560 |
500 | N>S | No |
ClinGen TOPMed |
|
|
CA385587048 rs1390382975 |
501 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1463158643 CA385587075 |
505 | N>T | No |
ClinGen gnomAD |
|
|
rs773975292 CA6666719 |
506 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1409765874 CA385587097 |
508 | L>W | No |
ClinGen gnomAD |
|
|
rs745738982 CA6666720 |
510 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6666721 rs772073463 |
511 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385587121 rs74691643 |
512 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_075881 rs74691643 CA6666722 |
512 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA385587129 rs1327133701 |
513 | K>R | No |
ClinGen gnomAD |
|
|
rs771525207 CA6666741 |
514 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA6666742 rs114650343 |
517 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1321506999 CA385587681 |
520 | P>L | No |
ClinGen gnomAD |
|
|
rs202173847 CA6666744 |
522 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA385587689 rs1157600072 |
522 | I>V | No |
ClinGen gnomAD |
|
|
rs1165691456 CA385587698 |
523 | V>A | No |
ClinGen gnomAD |
|
|
CA385587694 rs1425401060 |
523 | V>M | No |
ClinGen gnomAD |
|
|
rs1433306047 CA385587717 |
526 | C>R | No |
ClinGen gnomAD |
|
|
rs1364022128 CA385587725 |
527 | I>V | No |
ClinGen gnomAD |
|
|
CA6666747 rs371057876 |
528 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377564318 COSM173784 CA6666746 |
528 | R>W | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs763056046 CA6666749 |
533 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1220271234 CA385587772 |
534 | G>C | No |
ClinGen TOPMed |
|
|
CA385587825 rs1292652254 |
540 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 542 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373289121 CA238215511 |
543 | V>A | No |
ClinGen ESP |
|
|
CA6666771 rs774415022 |
553 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 557 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385587944 rs1463301932 |
557 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6666772 rs759991312 |
558 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6666804 rs762616052 |
560 | G>D | No |
ClinGen ExAC |
|
|
CA6666803 rs762616052 |
560 | G>V | No |
ClinGen ExAC |
|
|
CA385588052 rs1342949283 |
561 | E>* | No |
ClinGen gnomAD |
|
|
CA6666806 rs754513644 |
561 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 562 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385588103 rs1303392315 |
565 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6666807 rs767190521 |
565 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA385588135 rs1433780869 |
567 | D>E | No |
ClinGen TOPMed |
|
|
CA6666808 rs762115143 |
567 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs762115143 CA385588126 |
567 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs115343529 CA6666809 RCV000881651 |
569 | S>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs916475154 CA238217489 |
571 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1286380964 CA385588205 |
572 | D>E | No |
ClinGen gnomAD |
|
|
rs1351603146 CA385588215 |
573 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 575 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6666813 COSM942451 rs779089900 |
579 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 580 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs969288332 CA238217532 |
582 | L>V | No |
ClinGen TOPMed |
|
|
CA6666815 rs772135884 |
583 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6666814 rs746150937 |
583 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 584 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6666816 rs775553183 |
585 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA238217545 rs912990988 |
585 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 585 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385588364 rs1247539714 |
586 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 588 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6666818 rs371344520 |
588 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA238217565 rs1044312851 |
590 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs777012427 CA6666820 |
591 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1329787820 CA385588476 |
594 | K>N | No |
ClinGen TOPMed |
|
|
rs762050708 CA6666821 |
595 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs762050708 CA6666822 |
595 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA238217593 rs374244618 |
596 | R>K | No |
ClinGen ESP gnomAD |
|
|
rs368173495 CA6666824 |
599 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs368173495 CA6666825 |
599 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385588548 rs1288834746 |
600 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 600 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216998794 CA385588556 |
601 | I>T | No |
ClinGen TOPMed |
|
|
CA385588569 rs752160125 |
603 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752160125 CA6666826 |
603 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760609170 CA6666827 |
604 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 605 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267160009 CA385589306 |
605 | R>K | No |
ClinGen TOPMed |
|
|
rs535795598 CA6666846 |
606 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1421966061 CA385589313 |
606 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs535795598 CA238225239 |
606 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371342267 CA385589320 |
607 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385589316 rs1465529452 |
607 | D>N | No |
ClinGen gnomAD |
|
|
rs371342267 CA6666847 |
607 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753717623 CA6666849 |
611 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761744956 CA6666850 |
612 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs750241777 CA385589361 |
613 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750241777 COSM42729 CA6666852 |
613 | A>V | Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA385589364 rs1317073553 |
614 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 615 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3398986 rs201404379 CA6666854 |
617 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs201404379 CA385589387 |
617 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385589395 rs1364505574 |
618 | K>N | No |
ClinGen TOPMed |
|
|
CA385589411 rs1252615414 |
621 | L>P | No |
ClinGen TOPMed |
|
|
rs886866100 CA238225325 |
622 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 624 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385589441 rs1342258697 |
626 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs781399627 CA6666857 |
629 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754999457 CA6666856 |
629 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs893539788 CA238225358 |
631 | M>I | No |
ClinGen TOPMed |
|
|
CA6666859 rs770434512 |
635 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA238225400 rs1005423303 |
636 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA385589507 rs1349316261 |
636 | A>V | No |
ClinGen TOPMed |
|
|
CA385589517 rs778231261 |
638 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6666860 rs778231261 |
638 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6666862 rs116623960 |
639 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 641 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773118983 CA6666891 |
644 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA238227192 rs1030698329 COSM942454 |
646 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA385589607 rs1441588415 |
649 | M>V | No |
ClinGen gnomAD |
|
|
CA385589616 rs1236861673 |
650 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs759624963 CA6666895 |
654 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6666896 rs767808345 |
656 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1445424021 CA385589660 |
656 | A>V | No |
ClinGen gnomAD |
|
|
CA385589665 rs1198635672 |
657 | I>V | No |
ClinGen TOPMed |
|
|
rs753005951 CA6666897 |
659 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1438462786 CA385589706 |
663 | L>S | No |
ClinGen TOPMed |
|
|
CA385589714 rs1275128771 |
664 | M>T | No |
ClinGen TOPMed |
|
|
rs756252291 CA6666898 |
667 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs756252291 CA385589731 |
667 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs754332823 CA6666900 |
670 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6666901 rs147903674 |
670 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6666902 rs779098682 |
674 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA238227282 rs199608442 |
675 | C>F | No |
ClinGen 1000Genomes TOPMed |
|
|
rs746275384 CA6666903 |
675 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA6666904 rs374538474 |
677 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385589807 rs1565685685 |
678 | H>R | No |
ClinGen Ensembl |
|
|
rs1382888883 CA385589829 |
681 | E>G | No |
ClinGen gnomAD |
|
|
CA385589858 rs1310209885 |
685 | T>N | No |
ClinGen gnomAD |
|
|
CA6666905 rs368326212 |
686 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747855099 CA6666906 |
687 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1252384765 CA385589876 |
688 | I>T | No |
ClinGen gnomAD |
|
|
rs1441306742 CA385589883 |
689 | H>R | No |
ClinGen TOPMed |
|
|
CA6666907 rs769288257 |
689 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 690 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461840588 CA385589910 |
693 | I>V | No |
ClinGen gnomAD |
|
|
CA238227316 rs1013364632 |
696 | D>E | No |
ClinGen gnomAD |
|
|
rs1411982584 CA385589944 |
698 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA385589951 rs1422998162 |
699 | E>K | No |
ClinGen gnomAD |
|
|
CA238227323 rs376260604 |
702 | G>S | No |
ClinGen ESP TOPMed |
|
|
rs1170817976 CA385589979 |
703 | P>S | No |
ClinGen gnomAD |
|
|
CA6666909 rs772640170 |
704 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763532876 CA6666913 |
708 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773974822 CA6666911 |
708 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1406155992 CA385590019 |
709 | M>V | No |
ClinGen gnomAD |
|
|
CA385590033 rs1565685746 |
711 | G>R | No |
ClinGen Ensembl |
|
|
rs775853547 CA6666914 |
713 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6666915 rs760986373 |
714 | Y>C | No |
ClinGen ExAC |
|
| rs778727734 | 715 | C>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA238227415 rs148973335 |
715 | C>R | No |
ClinGen ESP |
|
|
CA6666937 rs577679255 |
716 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385586645 rs1311689599 |
717 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA238189628 rs865991224 |
719 | Y>H | No |
ClinGen Ensembl |
|
|
rs766672592 CA6666939 |
721 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6666938 rs763454523 |
721 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6666941 COSM2155209 rs745328019 |
723 | G>S | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA385586692 rs1478946920 |
724 | T>A | No |
ClinGen gnomAD |
|
|
CA385586696 rs1189405026 |
724 | T>I | No |
ClinGen gnomAD |
|
|
rs1160085927 CA385586729 |
729 | D>A | No |
ClinGen gnomAD |
|
|
rs1418231898 CA385586746 |
731 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1418231898 CA385586747 |
731 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6666943 rs753480616 |
732 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1181988095 CA385586760 |
733 | G>V | No |
ClinGen gnomAD |
|
|
CA238189707 rs771619538 |
734 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs371767584 CA238189711 |
734 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA385586764 rs371767584 |
734 | T>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6666945 rs778293593 |
735 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 736 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA238189730 rs938616564 |
736 | P>S | No |
ClinGen TOPMed |
|
|
rs1242881408 CA385586784 |
737 | H>Q | No |
ClinGen gnomAD |
|
|
CA385586779 rs1241012423 |
737 | H>Y | No |
ClinGen gnomAD |
|
|
CA385586800 rs1351720307 |
740 | E>Q | No |
ClinGen gnomAD |
|
|
rs767827216 CA6666961 |
743 | C>Y | No |
ClinGen ExAC |
|
|
rs77090627 CA238196932 |
745 | P>Q | No |
ClinGen Ensembl |
|
|
CA238196930 rs972695343 |
745 | P>S | No |
ClinGen Ensembl |
|
|
rs1592345420 CA385587257 |
746 | I>T | No |
ClinGen Ensembl |
|
|
rs780360831 CA238196941 |
749 | I>M | No |
ClinGen Ensembl |
|
|
rs1360392260 CA385587278 |
749 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6666962 rs753466858 |
750 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA6666963 rs756876470 |
754 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs764758737 CA6666964 |
756 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6666966 rs758022220 COSM431655 |
757 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs749937035 COSM1363579 CA6666965 |
757 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs754818921 CA6666969 |
759 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754818921 CA6666970 |
759 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335697923 CA385587337 |
759 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1446124416 CA385587342 |
760 | R>K | No |
ClinGen gnomAD |
|
|
rs1009213926 CA238197003 |
761 | E>K | No |
ClinGen TOPMed |
|
|
rs748343534 CA6666971 COSM1512724 |
764 | F>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6666972 rs769930018 |
764 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6666973 rs773299180 |
767 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 769 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385587421 rs1354828593 |
773 | Y>N | No |
ClinGen TOPMed |
|
|
rs767868053 CA6666978 |
775 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186407039 CA385587437 |
775 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA385587440 rs1257184977 |
776 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 776 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6666981 rs764769871 |
783 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs761486340 CA6666980 |
783 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1465152083 CA385587500 |
784 | R>K | No |
ClinGen gnomAD |
|
|
CA385587520 rs12303060 |
786 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385587523 rs1397158076 |
787 | G>E | No |
ClinGen TOPMed |
|
|
rs762541991 CA6666983 |
787 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6666985 rs751473118 |
790 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385587553 rs1416445693 |
792 | V>L | No |
ClinGen TOPMed |
|
|
rs1401655826 CA385587559 |
793 | P>S | No |
ClinGen gnomAD |
|
|
CA6666987 rs780987586 |
796 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6666989 rs755976657 |
798 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1257176111 CA385587600 |
798 | V>M | No |
ClinGen gnomAD |
|
|
rs1286373254 CA385587608 |
799 | V>M | No |
ClinGen gnomAD |
|
|
CA385587629 rs1488804798 |
800 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs958858320 CA238197159 |
802 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759473528 CA6667003 |
803 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284243929 CA385587982 |
803 | D>Y | No |
ClinGen gnomAD |
|
|
rs767326306 CA6667004 |
804 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs752729005 CA6667005 |
805 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1175132178 CA385588036 |
811 | S>N | No |
ClinGen gnomAD |
|
|
CA6667010 rs757493847 |
815 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6667009 rs757493847 |
815 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6667011 rs745904868 |
816 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA385588158 rs1354062069 |
819 | S>I | No |
ClinGen TOPMed |
|
|
CA6667012 rs772247296 |
820 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780416426 CA6667013 |
824 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331390707 CA385588257 |
826 | D>G | No |
ClinGen gnomAD |
|
|
rs1592346887 CA385588251 |
826 | D>Y | No |
ClinGen Ensembl |
|
|
rs1378481578 CA385588274 |
827 | K>R | No |
ClinGen gnomAD |
|
|
CA385588295 rs1316663613 |
829 | S>P | No |
ClinGen gnomAD |
|
|
CA6667016 rs555330566 |
830 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6667017 rs762643394 |
831 | K>E | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 831 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1267626434 CA385588349 |
833 | M>L | No |
ClinGen gnomAD |
|
|
CA6667018 rs770735241 |
835 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115771292 CA6667019 |
836 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372441466 CA6667022 |
839 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372441466 CA6667021 |
839 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144647166 CA238198274 |
839 | R>H | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 842 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385588481 rs372970728 |
843 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs912676089 CA238198287 |
843 | G>D | No |
ClinGen Ensembl |
|
|
rs372970728 CA6667023 |
843 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs558562879 CA6667024 |
844 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385588488 rs1194581751 |
844 | Y>H | No |
ClinGen TOPMed |
|
|
rs138602291 COSM1240318 CA6667048 |
849 | R>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs766317341 CA6667049 |
849 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA385588610 rs1312865994 |
850 | K>R | No |
ClinGen gnomAD |
|
|
CA6667050 rs545797484 |
851 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373707365 CA238198636 |
852 | G>R | No |
ClinGen Ensembl |
|
|
rs755145145 CA6667051 |
854 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1218690808 CA385588644 |
855 | P>L | No |
ClinGen TOPMed |
|
|
CA385588641 rs1217004061 |
855 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1217004061 CA385588639 |
855 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1185871085 CA385588646 |
856 | P>R | No |
ClinGen gnomAD |
|
|
COSM3464192 CA6667053 rs748723181 |
856 | P>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA238198651 rs748723181 |
856 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778202196 CA6667055 |
857 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA385588655 rs1440732003 |
858 | V>I | No |
ClinGen TOPMed |
|
|
CA6667056 rs149280592 |
860 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6667057 rs201925665 |
860 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565693000 CA385588670 |
861 | P>T | No |
ClinGen Ensembl |
|
|
rs775046985 CA6667058 |
862 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA238198700 rs952397992 |
866 | D>G | No |
ClinGen TOPMed |
|
|
rs776550286 CA385588711 |
867 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768214220 CA6667060 |
867 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs776550286 CA6667061 |
867 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs374074820 CA6667062 |
869 | C>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6667063 COSM1606493 rs769523377 |
869 | C>W | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs144536347 CA6667064 |
870 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385588741 rs1592347329 |
872 | H>P | No |
ClinGen Ensembl |
|
|
CA6667066 rs766589926 |
872 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368015303 CA6667067 |
873 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385588759 rs61754221 |
875 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6667068 rs372044071 |
875 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753186154 CA6667070 |
879 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1458661357 CA385588819 |
885 | G>R | No |
ClinGen TOPMed |
|
|
CA385588821 rs1473332113 |
885 | G>V | No |
ClinGen gnomAD |
|
|
rs375183261 CA6667074 |
888 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375183261 CA6667075 |
888 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1439857010 CA385588848 |
890 | A>S | No |
ClinGen gnomAD |
|
|
CA385588860 rs1399391180 |
891 | S>R | No |
ClinGen gnomAD |
|
|
rs1382545603 CA385588857 |
891 | S>T | No |
ClinGen gnomAD |
|
|
rs1592347430 CA385588867 |
892 | H>P | No |
ClinGen Ensembl |
|
|
rs1318237156 CA385588872 |
893 | P>S | No |
ClinGen gnomAD |
|
|
CA6667077 rs746735391 |
894 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6667076 rs369619577 |
894 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385588879 rs1323930408 |
895 | G>S | No |
ClinGen gnomAD |
|
|
rs1592347447 CA385588896 |
898 | Q>* | No |
ClinGen Ensembl |
|
|
rs768091956 CA6667078 |
900 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385588912 rs768091956 |
900 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs975499792 CA238198851 |
900 | R>H | No |
ClinGen gnomAD |
|
|
CA385588923 rs1406918609 |
902 | L>F | No |
ClinGen gnomAD |
|
|
rs372358082 CA6667079 |
903 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs528390646 CA6667080 CA385588932 |
903 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1310580558 CA385588934 |
904 | N>D | No |
ClinGen TOPMed |
|
|
CA6667081 rs141781314 |
904 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 905 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6667084 rs202205206 |
909 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762783398 CA6667083 |
909 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373227457 CA6667085 |
911 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759843034 CA6667086 |
911 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6667087 RCV001293603 rs572030421 |
912 | R>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA385588989 rs1236048290 |
912 | R>S | No |
ClinGen gnomAD |
|
|
CA385588990 rs752844739 |
913 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565693157 CA385588993 |
913 | P>L | No |
ClinGen Ensembl |
|
|
CA385588991 rs752844739 |
913 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6667088 rs752844739 |
913 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs945029003 CA238198938 |
914 | G>D | No |
ClinGen Ensembl |
|
|
CA6667091 rs764642870 |
915 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA6667090 rs764642870 |
915 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6667093 rs779154252 |
917 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466269764 CA385589020 |
918 | L>V | No |
ClinGen gnomAD |
|
|
rs1046015895 CA385589031 |
920 | N>D | No |
ClinGen gnomAD |
|
|
rs1046015895 CA238198950 |
920 | N>Y | No |
ClinGen gnomAD |
|
|
rs1334145746 CA385589043 |
921 | I>M | No |
ClinGen gnomAD |
|
|
rs200877785 CA238198951 |
923 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6667095 rs377601761 |
923 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200877785 COSM193766 CA6667094 |
923 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6667097 COSM193767 rs747622771 |
925 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA385589073 rs769234004 |
926 | S>C | No |
ClinGen ExAC TOPMed |
|
|
CA6667098 rs769234004 |
926 | S>F | No |
ClinGen ExAC TOPMed |
|
|
CA385589070 rs1272510395 |
926 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 926 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317991726 CA385589078 |
927 | L>P | No |
ClinGen gnomAD |
|
|
rs749247989 CA6667100 |
928 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA385589087 rs1287175889 |
929 | K>E | No |
ClinGen TOPMed |
|
|
rs774301372 CA6667102 |
932 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA385589129 rs1387379197 |
935 | I>L | No |
ClinGen TOPMed |
|
|
rs1387379197 CA385589131 |
935 | I>V | No |
ClinGen TOPMed |
|
|
rs1238391160 CA385589149 |
937 | R>S | No |
ClinGen gnomAD |
|
|
rs1186421658 CA385589161 |
939 | T>M | Variant assessed as Somatic; 4.628e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1359732202 CA385589167 |
940 | S>L | No |
ClinGen TOPMed |
|
|
CA6667105 rs775906373 |
942 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA385589179 rs1172826841 |
943 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 944 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs187443037 CA6667106 |
944 | Y>H | No |
ClinGen 1000Genomes ExAC |
|
|
COSM1227547 CA6667107 rs764147106 |
945 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6667109 rs199691520 |
946 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6667110 rs199691520 |
946 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6667111 rs750821065 |
947 | F>L | No |
ClinGen ExAC |
|
|
rs1360648793 CA385589203 |
947 | F>L | No |
ClinGen gnomAD |
|
|
CA6667112 rs758799802 |
948 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752400636 CA6667114 |
949 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs755642722 CA6667115 |
949 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs767132570 CA6667113 |
949 | D>H | No |
ClinGen ExAC |
|
|
CA6667116 rs777152317 |
950 | H>N | No |
ClinGen ExAC |
|
|
CA6667117 rs200270117 CA6667119 |
950 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745637892 CA6667120 |
952 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200646453 CA385589243 |
953 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs113302231 CA6667121 RCV000962473 |
953 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1486850995 CA385589277 |
958 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA385590090 rs1565699762 |
962 | I>M | No |
ClinGen Ensembl |
|
|
rs1016203730 CA238209459 |
962 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1565699763 CA385590093 |
963 | E>K | No |
ClinGen Ensembl |
|
|
COSM1176565 rs769917911 CA6667145 |
965 | T>M | pancreas Variant assessed as Somatic; 4.63e-05 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA385590116 rs1271659128 |
966 | M>T | No |
ClinGen TOPMed |
|
|
rs1452762134 CA385590134 |
968 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 970 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 972 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380651621 CA385590171 COSM942461 |
974 | R>* | Variant assessed as Somatic; 0.0 impact. NS endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs867940969 CA238209489 |
974 | R>Q | No |
ClinGen TOPMed |
|
|
CA6667147 rs763452266 |
976 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs771226433 CA6667148 |
979 | Q>E | No |
ClinGen ExAC |
|
|
rs774601306 CA6667149 |
981 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM942462 rs1384086510 CA385590219 |
981 | T>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs12366447 CA6667150 |
982 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs753586494 CA6667153 |
992 | T>P | No |
ClinGen ExAC |
|
|
CA385590296 rs1592360205 |
993 | L>R | No |
ClinGen Ensembl |
|
|
rs764844868 CA6667155 |
994 | E>A | No |
ClinGen ExAC |
|
|
rs1259343960 CA385590332 |
998 | N>K | No |
ClinGen gnomAD |
|
|
rs779959685 CA385590330 |
998 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6667158 rs779959685 |
998 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751284295 CA6667159 |
999 | S>P | No |
ClinGen ExAC |
|
| TCGA novel | 999 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385590348 rs1354060601 |
1001 | T>I | No |
ClinGen TOPMed |
|
|
CA6667162 rs79960944 |
1001 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385590350 rs1210987876 |
1002 | P>A | No |
ClinGen gnomAD |
|
|
CA6667163 rs748466570 |
1002 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1592360280 CA385590360 |
1004 | T>P | No |
ClinGen Ensembl |
|
|
rs923224947 CA238209598 |
1005 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6667165 rs549866334 |
1006 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM549434 CA6667164 rs549866334 |
1006 | T>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6667167 rs147893543 |
1007 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1179316756 CA385590402 |
1011 | P>S | No |
ClinGen gnomAD |
|
|
rs1565699900 CA385590409 |
1012 | L>V | No |
ClinGen Ensembl |
|
|
rs770766626 CA238209635 |
1013 | H>Y | No |
ClinGen TOPMed |
|
|
CA385590426 rs1414213487 |
1014 | N>S | No |
ClinGen TOPMed |
|
|
rs150022669 CA6667170 |
1015 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150022669 CA6667169 |
1015 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385590434 rs1167074068 |
1016 | A>T | No |
ClinGen gnomAD |
|
|
CA385590442 rs1395867354 |
1017 | L>F | No |
ClinGen gnomAD |
|
|
CA385590460 rs1270825670 |
1019 | S>R | No |
ClinGen TOPMed |
|
|
rs761572950 CA6667172 |
1021 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1022 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764794013 CA6667173 |
1023 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6667174 rs749986756 |
1024 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA6667176 rs368816137 |
1025 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368816137 CA6667175 |
1025 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145343251 CA6667177 |
1026 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6667178 rs145343251 |
1026 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781042705 CA6667179 |
1026 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781042705 CA385590497 |
1026 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6667180 rs115237615 |
1028 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1481718077 CA385590530 |
1031 | S>C | No |
ClinGen gnomAD |
|
|
rs916231406 CA238209705 |
1031 | S>T | No |
ClinGen TOPMed |
|
|
rs965042351 CA238209707 |
1032 | S>G | No |
ClinGen gnomAD |
|
|
CA6667182 rs777788987 |
1033 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1035 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145138564 CA6667183 |
1036 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757375350 CA6667184 |
1038 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1415654797 CA385590593 |
1040 | P>L | No |
ClinGen gnomAD |
|
|
CA385590596 rs1398889045 |
1041 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs779285114 CA6667185 |
1041 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs745556807 CA6667186 |
1042 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385590611 rs1178736736 |
1043 | A>G | No |
ClinGen TOPMed |
|
|
CA385590615 rs1355801470 |
1044 | P>S | No |
ClinGen gnomAD |
|
|
rs775946528 CA6667188 |
1047 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs772269186 CA6667187 |
1047 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs146885491 CA6667190 |
1048 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146885491 CA6667189 |
1048 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773052161 CA6667191 |
1049 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs762542039 CA6667192 |
1052 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA385590680 rs1225900005 |
1055 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1488594948 CA385590694 |
1057 | P>A | No |
ClinGen TOPMed |
|
|
CA385590705 rs1592360511 |
1058 | K>N | No |
ClinGen Ensembl |
|
|
CA385590707 rs1267673022 |
1059 | P>T | No |
ClinGen TOPMed |
|
|
rs1233246806 CA385590713 |
1060 | A>T | No |
ClinGen gnomAD |
|
|
CA385590718 rs1214007464 |
1060 | A>V | No |
ClinGen TOPMed |
|
|
CA385590745 rs1592360534 |
1065 | T>P | No |
ClinGen Ensembl |
|
|
CA6667193 rs771587209 |
1067 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759528544 CA6667195 |
1069 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6667194 rs774085366 |
1069 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6667196 rs376584950 |
1071 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385590781 rs376584950 |
1071 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM4136209 rs1483445575 CA385590794 |
1073 | P>S | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6667197 rs752519015 |
1074 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs755941243 CA6667199 |
1075 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755941243 CA6667198 |
1075 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA238209832 rs1054595807 |
1076 | Q>P | No |
ClinGen Ensembl |
|
|
CA385590819 rs1302755492 |
1077 | G>V | No |
ClinGen TOPMed |
|
|
CA385590824 rs1387632562 |
1078 | P>R | No |
ClinGen TOPMed |
|
|
CA238209834 rs914758420 |
1080 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1565700155 CA385590839 |
1081 | K>Q | No |
ClinGen Ensembl |
|
|
CA6667200 rs754116512 |
1082 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA6667201 rs757217855 |
1083 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385590863 rs1451131518 |
1084 | T>I | No |
ClinGen Ensembl |
|
|
rs1426292062 CA385590869 |
1085 | M>T | No |
ClinGen gnomAD |
No associated diseases with Q7Z6B7
5 regional properties for Q7Z6B7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Phenylalanyl-tRNA synthetase | 210 - 483 | IPR002319 |
| domain | Aminoacyl-tRNA synthetase, class II | 229 - 491 | IPR006195 |
| domain | PheRS DNA binding domain 2 | 134 - 165 | IPR040586 |
| domain | PheRS, DNA binding domain 1 | 3 - 61 | IPR040724 |
| domain | PheRS, DNA binding domain 3 | 75 - 132 | IPR040725 |
2 GO annotations of cellular component
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of cell migration | Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5T0N5 | FNBP1L | Formin-binding protein 1-like | Homo sapiens (Human) | PR |
| O94868 | FCHSD2 | F-BAR and double SH3 domains protein 2 | Homo sapiens (Human) | PR |
| Q96RU3 | FNBP1 | Formin-binding protein 1 | Homo sapiens (Human) | PR |
| O75044 | SRGAP2 | SLIT-ROBO Rho GTPase-activating protein 2 | Homo sapiens (Human) | PR |
| Q8CJ53 | Trip10 | Cdc42-interacting protein 4 | Mus musculus (Mouse) | PR |
| Q3USJ8 | Fchsd2 | F-BAR and double SH3 domains protein 2 | Mus musculus (Mouse) | PR |
| Q6PFY1 | Fchsd1 | F-BAR and double SH3 domains protein 1 | Mus musculus (Mouse) | PR |
| Q812A2 | Srgap3 | SLIT-ROBO Rho GTPase-activating protein 3 | Mus musculus (Mouse) | PR |
| Q80TY0 | Fnbp1 | Formin-binding protein 1 | Mus musculus (Mouse) | PR |
| Q8K012 | Fnbp1l | Formin-binding protein 1-like | Mus musculus (Mouse) | PR |
| Q91Z67 | Srgap2 | SLIT-ROBO Rho GTPase-activating protein 2 | Mus musculus (Mouse) | PR |
| Q91Z69 | Srgap1 | SLIT-ROBO Rho GTPase-activating protein 1 | Mus musculus (Mouse) | PR |
| Q8R511 | Fnbp1 | Formin-binding protein 1 | Rattus norvegicus (Rat) | PR |
| Q2HWF0 | Fnbp1l | Formin-binding protein 1-like | Rattus norvegicus (Rat) | PR |
| D4A208 | Srgap2 | SLIT-ROBO Rho GTPase-activating protein 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSTPSRFKKD | KEIIAEYESQ | VKEIRAQLVE | QQKCLEQQTE | MRVQLLQDLQ | DFFRKKAEIE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TEYSRNLEKL | AERFMAKTRS | TKDHQQYKKD | QNLLSPVNCW | YLLLNQVRRE | SKDHATLSDI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YLNNVIMRFM | QISEDSTRMF | KKSKEIAFQL | HEDLMKVLNE | LYTVMKTYHM | YHAESISAES |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KLKEAEKQEE | KQIGRSGDPV | FHIRLEERHQ | RRSSVKKIEK | MKEKRQAKYS | ENKLKSIKAR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NEYLLTLEAT | NASVFKYYIH | DLSDLIDCCD | LGYHASLNRA | LRTYLSAEYN | LETSRHEGLD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IIENAVDNLE | PRSDKQRFME | MYPAAFCPPM | KFEFQSHMGD | EVCQVSAQQP | VQAELMLRYQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QLQSRLATLK | IENEEVKKTT | EATLQTIQDM | VTIEDYDVSE | CFQHSRSTES | VKSTVSETYL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SKPSIAKRRA | NQQETEQFYF | MKLREYLEGS | NLITKLQAKH | DLLQRTLGEG | HRAEYMTTRP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PNVPPKPQKH | RKSRPRSQYN | TKLFNGDLET | FVKDSGQVIP | LIVESCIRFI | NLYGLQHQGI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FRVSGSQVEV | NDIKNSFERG | ENPLADDQSN | HDINSVAGVL | KLYFRGLENP | LFPKERFNDL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ISCIRIDNLY | ERALHIRKLL | LTLPRSVLIV | MRYLFAFLNH | LSQYSDENMM | DPYNLAICFG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PTLMPVPEIQ | DQVSCQAHVN | EIIKTIIIHH | ETIFPDAKEL | DGPVYEKCMA | GDDYCDSPYS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EHGTLEEVDQ | DAGTEPHTSE | DECEPIEAIA | KFDYVGRSAR | ELSFKKGASL | LLYHRASEDW |
| 790 | 800 | 810 | 820 | 830 | 840 |
| WEGRHNGIDG | LVPHQYIVVQ | DMDDTFSDTL | SQKADSEASS | GPVTEDKSSS | KDMNSPTDRH |
| 850 | 860 | 870 | 880 | 890 | 900 |
| PDGYLARQRK | RGEPPPPVRR | PGRTSDGHCP | LHPPHALSNS | SVDLGSPSLA | SHPRGLLQNR |
| 910 | 920 | 930 | 940 | 950 | 960 |
| GLNNDSPERR | RRPGHGSLTN | ISRHDSLKKI | DSPPIRRSTS | SGQYTGFNDH | KPLDPETIAQ |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| DIEETMNTAL | NELRELERQS | TAKHAPDVVL | DTLEQVKNSP | TPATSTESLS | PLHNVALRSS |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| EPQIRRSTSS | SSDTMSTFKP | MVAPRMGVQL | KPPALRPKPA | VLPKTNPTIG | PAPPPQGPTD |
| KSCTM |