Q9H4G0
PR
Gene name |
EPB41L1 |
Protein name |
Band 4.1-like protein 1 |
Names |
Erythrocyte membrane protein band 4.1-like 1, Neuronal protein 4.1, 4.1N |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2036 |
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 Q9H4G0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H4G0-F1 | Predicted | AlphaFoldDB |
616 variants for Q9H4G0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001252245 rs1242238241 CA408924920 |
442 | V>D | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001252244 rs375772370 CA9839920 |
534 | R>W | Intellectual disability Variant assessed as Somatic; 4.62e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs778642222 RCV002517074 RCV000193339 CA206753 |
554 | A>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002517934 RCV000194355 CA208481 rs375302378 |
591 | T>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1569330133 RCV000679982 CA408797986 |
615 | S>T | Intellectual disability, autosomal dominant 11 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001328644 rs2063022720 |
631 | S>I | Intellectual disability, autosomal dominant 11 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3707727 rs766068292 CA9840213 RCV001198025 |
736 | V>A | liver Intellectual disability, autosomal dominant 11 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1569376434 RCV000023216 VAR_066600 CA408802902 |
854 | P>S | Intellectual disability, autosomal dominant 11 MRD11; results in a 50% reduction of interaction of 4.1N protein to GRIA1 compared to wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA408921871 rs1209270465 |
2 | T>K | No |
ClinGen gnomAD |
|
|
CA9839484 rs752229233 |
3 | T>I | No |
ClinGen ExAC |
|
| TCGA novel | 4 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408921895 rs1258886245 |
6 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1443302443 CA408921902 |
7 | P>H | No |
ClinGen gnomAD |
|
|
CA9839486 rs777563514 |
8 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778792843 CA9839489 |
11 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA408921927 rs756943586 |
11 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs756943586 CA9839488 |
11 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 12 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9839490 rs201658763 |
12 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1409652591 CA408921943 |
13 | K>N | No |
ClinGen TOPMed |
|
|
rs772016286 CA9839491 |
14 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 17 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA314210624 rs775455374 |
18 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775455374 CA9839492 |
18 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839493 rs747082511 |
19 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408921981 rs747082511 |
19 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA408921982 rs747082511 |
19 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA408921992 rs1600734248 |
21 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 22 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9839496 rs369402278 |
23 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1221805875 CA408922010 |
23 | E>G | No |
ClinGen TOPMed |
|
|
rs1352477424 CA408922005 |
23 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1352477424 CA408922006 |
23 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1270256586 CA408922012 |
24 | A>T | No |
ClinGen TOPMed |
|
|
rs1197047427 CA408922017 |
24 | A>V | No |
ClinGen TOPMed |
|
|
CA408922029 rs1346441202 |
26 | A>V | No |
ClinGen gnomAD |
|
|
CA314210661 rs111421912 |
27 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1411482 rs111421912 CA9839498 |
27 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 27 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766975752 CA9839499 |
28 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408922044 rs1204907220 |
29 | T>I | No |
ClinGen gnomAD |
|
|
CA9839500 rs752178389 |
30 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839501 rs760195022 |
30 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408922081 rs1452615518 |
36 | G>D | No |
ClinGen gnomAD |
|
|
CA9839503 rs753490096 |
36 | G>S | No |
ClinGen ExAC gnomAD |
|
|
COSM443733 rs145893462 CA9839505 |
38 | G>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA314210701 rs894380826 |
43 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1172293118 CA408922142 |
45 | N>S | No |
ClinGen TOPMed |
|
|
CA9839509 rs138256745 |
48 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408922164 rs1600734879 |
48 | H>Y | No |
ClinGen Ensembl |
|
|
rs1600734915 CA408922172 |
49 | P>Q | No |
ClinGen Ensembl |
|
|
rs768666836 CA9839510 |
50 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs573702846 CA9839511 |
52 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs371405277 CA9839512 |
54 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs562835358 CA9839515 |
55 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9839516 rs562835358 |
55 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9839514 rs773359834 |
55 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1209784362 CA408922217 |
57 | A>P | No |
ClinGen gnomAD |
|
|
CA408922221 rs1272750130 |
57 | A>V | No |
ClinGen gnomAD |
|
|
rs774885999 CA9839535 |
61 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408922269 rs1306931234 |
62 | D>E | No |
ClinGen TOPMed |
|
|
rs953602447 CA314211746 |
63 | M>T | No |
ClinGen TOPMed |
|
|
rs368127593 CA9839536 |
63 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1203146357 CA408922298 |
66 | K>R | No |
ClinGen gnomAD |
|
|
CA9839537 rs772685833 |
69 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA408922320 rs772685833 |
69 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1416818354 CA408922342 |
72 | D>G | No |
ClinGen gnomAD |
|
|
rs761382038 CA9839539 |
72 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA408922345 rs1308366227 |
73 | G>S | No |
ClinGen TOPMed |
|
|
CA9839540 RCV000500439 rs543552366 |
75 | S>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs762619496 CA9839542 |
79 | T>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 84 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754822027 CA9839545 |
86 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408922448 rs1180115286 |
88 | Q>L | No |
ClinGen TOPMed |
|
|
rs148330736 CA314211785 |
90 | I>T | No |
ClinGen ESP |
|
|
rs143214838 CA9839547 |
90 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756160954 CA408922465 |
91 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs756160954 CA9839548 |
91 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777736229 CA9839549 |
92 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 92 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1002994858 CA314211796 |
93 | K>R | No |
ClinGen TOPMed |
|
|
rs1210861087 CA408922487 |
94 | Y>C | No |
ClinGen TOPMed |
|
|
CA314211800 rs1031427659 |
96 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9839550 rs148961505 |
98 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA314211832 rs540713849 |
99 | C>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9839551 rs757523307 |
99 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs762263477 CA314211845 |
100 | R>Q | No |
ClinGen gnomAD |
|
|
CA9839552 rs779328780 |
100 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772632635 CA9839554 |
101 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408922537 rs1287083573 |
102 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 105 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1482130803 CA408922557 |
106 | A>T | No |
ClinGen gnomAD |
|
|
RCV000116981 rs375649709 CA152743 |
107 | S>A | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
|
CA9839555 rs369804239 |
107 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs927138687 CA314211890 |
110 | E>D | No |
ClinGen Ensembl |
|
|
CA408922639 rs1273216692 |
115 | K>N | No |
ClinGen gnomAD |
|
|
rs1365403403 CA408922651 |
117 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs6121176 CA9839580 |
118 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9839579 rs559868386 |
118 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408922659 rs1392604516 |
119 | G>S | No |
ClinGen gnomAD |
|
|
rs1206620204 CA408922683 |
123 | F>L | No |
ClinGen gnomAD |
|
|
rs150781382 CA314213699 |
125 | L>V | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 133 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9839583 rs753894195 |
135 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9839585 rs765424876 |
139 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 142 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9839587 rs758582600 |
143 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA408922832 rs1317420506 |
144 | D>V | No |
ClinGen TOPMed |
|
|
CA408922848 rs1325866956 |
146 | D>E | No |
ClinGen TOPMed |
|
|
CA408922843 rs1247060637 |
146 | D>N | No |
ClinGen TOPMed |
|
|
rs765372272 CA9839602 |
150 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs763147536 CA9839604 |
154 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA314214176 rs1046504276 |
156 | K>R | No |
ClinGen Ensembl |
|
|
CA9839605 rs776330299 |
160 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 163 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9839607 rs755236516 COSM1471466 |
163 | R>Q | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM1632264 rs745468944 CA9839606 |
163 | R>W | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs754649198 CA9839635 |
165 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs764383528 CA314216937 |
166 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9839637 rs747948817 |
170 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9839640 rs371944989 |
173 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772962742 CA9839639 |
173 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9839641 rs770875112 |
174 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs759662141 CA9839643 |
177 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1362630560 CA408923091 |
178 | P>S | No |
ClinGen gnomAD |
|
|
CA408923096 rs1436612724 |
179 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 182 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331028561 CA408923145 |
186 | D>G | No |
ClinGen gnomAD |
|
|
rs1048742068 CA314216977 |
186 | D>H | No |
ClinGen TOPMed |
|
|
rs369470148 CA314216978 |
187 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs6089009 CA314216979 |
189 | R>K | No |
ClinGen Ensembl |
|
|
rs1600808625 CA408923189 |
191 | Y>S | No |
ClinGen Ensembl |
|
|
CA408923229 rs1269343263 |
197 | R>Q | No |
ClinGen gnomAD |
|
|
rs1490508752 CA408923230 |
198 | A>T | No |
ClinGen gnomAD |
|
|
CA408923235 rs1348417841 |
198 | A>V | No |
ClinGen TOPMed |
|
|
CA408923251 rs1409404112 |
201 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9839665 rs377709134 |
202 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA314219355 rs377709134 |
202 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408923269 rs1455915815 |
204 | R>Q | No |
ClinGen gnomAD |
|
|
CA9839667 rs751041730 |
204 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA9839668 rs759054810 |
206 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA408923277 rs759054810 |
206 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 208 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262827048 CA408923297 |
209 | F>L | No |
ClinGen TOPMed |
|
|
CA408923315 rs1409685376 |
211 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753653225 CA9839673 |
213 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9839672 rs777338272 |
213 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1312238363 CA408923348 |
217 | S>C | No |
ClinGen gnomAD |
|
|
rs6142528 CA314219419 |
219 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778844004 CA9839675 |
221 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA314219436 rs1033634508 |
222 | A>V | No |
ClinGen TOPMed |
|
|
rs780140662 CA9839678 |
223 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA9839677 rs772092946 |
223 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9839679 rs747135476 |
227 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 230 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408923435 rs1421756231 |
231 | E>K | No |
ClinGen gnomAD |
|
|
CA408923448 rs1166483804 |
232 | H>L | No |
ClinGen gnomAD |
|
|
rs148438227 CA9839681 |
235 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1428568990 CA408923467 |
235 | N>S | No |
ClinGen gnomAD |
|
|
CA408923474 rs1372986579 |
236 | Y>C | No |
ClinGen gnomAD |
|
|
rs1370060133 CA408923478 |
237 | V>I | No |
ClinGen TOPMed |
|
|
rs773802695 CA314219483 |
238 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432144055 CA408923495 |
239 | E>G | No |
ClinGen TOPMed |
|
|
CA9839685 rs748336862 |
239 | E>K | Variant assessed as Somatic; 4.652e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9839686 rs767030871 |
240 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9839687 rs201058000 |
241 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1364482744 CA408923505 |
241 | R>H | No |
ClinGen gnomAD |
|
|
rs199985301 COSM186102 CA9839689 |
243 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA408923535 rs1309248193 |
246 | Q>K | No |
ClinGen gnomAD |
|
|
rs376321014 CA314219528 |
247 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9839692 rs151312225 |
248 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757020463 CA9839691 |
248 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1243412990 CA408923555 |
249 | E>G | No |
ClinGen gnomAD |
|
|
CA9839693 rs140658821 |
255 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs866698199 CA314219554 |
256 | E>V | No |
ClinGen Ensembl |
|
|
rs747080627 CA9839696 |
259 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 261 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408923663 rs1488799475 COSM1190252 |
262 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA408923667 rs1292842688 |
263 | G>E | No |
ClinGen gnomAD |
|
|
CA408923669 rs1292842688 |
263 | G>V | No |
ClinGen gnomAD |
|
|
rs539561937 CA9839714 |
264 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408923671 rs539561937 |
264 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753890218 CA9839716 |
266 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408923689 rs1226126107 |
267 | G>R | No |
ClinGen gnomAD |
|
|
rs1266451421 CA408923707 |
269 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1285938025 CA408923778 |
279 | K>E | No |
ClinGen gnomAD |
|
|
rs748296883 CA9839719 |
286 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA408923848 rs1285331476 |
289 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9839720 rs756265589 |
290 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754126216 CA408923914 |
297 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754126216 COSM186103 CA9839739 |
297 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9839740 COSM478090 rs757647901 |
299 | M>I | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs770202295 CA9839742 COSM1632265 |
302 | V>I | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 303 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408923962 rs1246132449 |
304 | A>T | No |
ClinGen gnomAD |
|
|
CA408923972 rs1274526623 COSM122854 |
305 | N>S | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA408923985 rs1197918561 |
307 | L>Q | No |
ClinGen gnomAD |
|
|
CA408923996 rs1185624386 |
309 | I>T | No |
ClinGen gnomAD |
|
|
rs747610829 CA9839745 |
309 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA408924008 rs1453891445 |
311 | R>W | No |
ClinGen TOPMed |
|
|
COSM1026340 rs772798907 CA9839747 |
313 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs376772230 CA9839749 |
317 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408924053 rs773991484 |
318 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9839750 rs773991484 |
318 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1169592529 CA408924111 |
326 | K>N | No |
ClinGen gnomAD |
|
|
CA9839751 rs759430468 |
328 | S>F | No |
ClinGen ExAC |
|
|
rs767350665 CA9839752 |
329 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 334 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338283275 CA408924174 |
335 | Y>C | No |
ClinGen TOPMed |
|
|
CA408924187 rs1255788945 |
337 | K>E | No |
ClinGen TOPMed |
|
|
rs1452717061 CA408924203 |
339 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 347 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331082339 CA408924293 |
350 | I>V | No |
ClinGen gnomAD |
|
|
CA9839772 rs764168312 |
351 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1227963651 CA408924313 |
353 | K>E | No |
ClinGen gnomAD |
|
|
rs202023331 CA314224109 |
355 | P>Q | No |
ClinGen Ensembl |
|
|
rs1208694340 CA408924328 |
355 | P>S | No |
ClinGen TOPMed |
|
|
CA408924334 rs1266507687 |
356 | N>S | No |
ClinGen gnomAD |
|
|
CA408924350 rs565289806 |
358 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9839774 rs565289806 |
358 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408924348 rs1486872694 |
358 | R>W | No |
ClinGen gnomAD |
|
|
CA9839775 rs765375387 |
360 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA408924404 rs1600842238 |
366 | V>G | No |
ClinGen Ensembl |
|
|
rs1197199818 CA408924420 |
369 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1197199818 CA408924421 |
369 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 375 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758635781 CA9839777 |
375 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs570109174 CA9839797 |
378 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767942737 CA9839798 |
381 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 382 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248311193 CA408924520 |
382 | P>S | No |
ClinGen gnomAD |
|
|
CA408924527 rs1569261994 |
383 | P>H | No |
ClinGen Ensembl |
|
|
CA408924524 rs1474291526 |
383 | P>T | No |
ClinGen TOPMed |
|
|
CA408924545 rs1293823577 |
386 | F>V | No |
ClinGen gnomAD |
|
|
CA408924547 rs1243690954 |
386 | F>Y | No |
ClinGen TOPMed |
|
|
rs1481500130 CA408924602 |
394 | R>Q | No |
ClinGen gnomAD |
|
|
rs756672064 CA9839800 |
394 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202155923 CA314224514 |
396 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA314224522 rs770557022 |
398 | R>K | No |
ClinGen Ensembl |
|
|
CA9839803 rs779912594 |
404 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs746797901 CA9839804 |
404 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA408924673 rs1168974171 |
405 | Q>R | No |
ClinGen gnomAD |
|
|
rs978010310 CA314224570 COSM1411485 |
408 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA9839806 rs776655991 |
409 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA9839807 rs148963106 |
412 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 415 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408924756 rs1315904123 |
418 | E>Q | No |
ClinGen gnomAD |
|
|
CA314224616 rs138153077 |
419 | R>G | No |
ClinGen ESP |
|
| TCGA novel | 419 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 420 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408924777 rs1293388673 |
421 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs774557660 CA9839812 |
424 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774557660 CA314224661 |
424 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839811 COSM379262 rs766616507 |
424 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1462522472 CA408924805 |
426 | T>P | No |
ClinGen TOPMed |
|
|
CA408924815 rs1459756212 |
427 | M>T | No |
ClinGen gnomAD |
|
|
rs759834206 CA9839813 |
428 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9839815 rs753161126 |
429 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs761212463 RCV000502097 CA9839816 |
429 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1429457585 CA408924832 |
430 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 433 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399011803 CA408924896 |
437 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
COSM3840888 rs766032605 CA9839837 |
438 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA408924898 rs766032605 |
438 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839838 rs573631309 |
438 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408924899 rs573631309 |
438 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9839839 rs754633088 |
440 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408924908 rs1431319771 |
440 | A>P | No |
ClinGen gnomAD |
|
|
CA9839840 rs781009046 |
441 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs371385330 CA314227421 |
443 | S>N | No |
ClinGen Ensembl |
|
|
CA408924952 rs2295568 |
446 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9839842 rs146290051 |
446 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1175233767 CA408924957 |
447 | D>G | No |
ClinGen gnomAD |
|
|
rs1285664381 CA408924961 |
448 | A>S | No |
ClinGen gnomAD |
|
|
rs1317000060 CA408924966 |
448 | A>V | No |
ClinGen gnomAD |
|
|
rs1490936764 CA408924978 |
450 | P>R | No |
ClinGen gnomAD |
|
|
rs374477689 CA9839843 |
451 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201056002 CA9839844 |
452 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs778924583 CA9839845 |
452 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1401008238 CA408925002 |
454 | K>R | No |
ClinGen TOPMed |
|
|
rs558366232 CA9839847 |
455 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408925007 rs1055034173 |
455 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA408925016 rs1363686980 |
456 | D>E | No |
ClinGen gnomAD |
|
|
rs1569274434 CA408925019 |
457 | E>K | No |
ClinGen Ensembl |
|
|
CA9839848 rs775578902 |
458 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs768957896 CA9839850 |
460 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1334950944 CA408925039 |
460 | E>K | No |
ClinGen gnomAD |
|
|
rs1600864775 CA408925048 |
461 | S>A | No |
ClinGen Ensembl |
|
|
CA408925050 rs1280949938 |
461 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1287634359 CA408925055 |
462 | G>A | No |
ClinGen gnomAD |
|
|
CA9839852 rs141329083 |
462 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408925053 rs141329083 |
462 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 463 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 464 | Q>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9839854 rs371544808 |
465 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs765872189 CA9839853 |
465 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436456047 CA408925077 |
466 | S>L | No |
ClinGen gnomAD |
|
|
CA9839855 rs759126249 |
466 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs767197304 CA9839856 |
467 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1387444693 CA408925080 |
467 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9839858 rs755917402 |
469 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181882533 CA408925103 |
470 | E>G | No |
ClinGen gnomAD |
|
|
CA408925110 rs1446296849 |
471 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763837659 CA9839859 |
473 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408925125 rs1600865257 |
473 | V>G | No |
ClinGen Ensembl |
|
|
CA408925121 rs763837659 |
473 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000514738 rs753699939 CA9839860 |
474 | R>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs757138368 CA9839861 |
475 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408925144 rs1293796096 |
477 | T>A | No |
ClinGen Ensembl |
|
|
rs1431468763 CA408925153 |
478 | K>R | No |
ClinGen TOPMed |
|
|
CA408925165 rs1400652533 |
480 | K>E | No |
ClinGen gnomAD |
|
|
rs778834733 CA9839862 |
483 | K>R | No |
ClinGen ExAC gnomAD |
|
| rs757050614 | 484 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147654123 RCV000193048 RCV000888122 CA206277 |
484 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs765154172 CA9839879 |
487 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs750417342 CA9839880 |
489 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408925237 rs1600871624 |
489 | T>P | No |
ClinGen Ensembl |
|
|
CA314228568 rs908608231 |
490 | P>L | No |
ClinGen TOPMed |
|
|
rs755103656 CA9839885 |
491 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs755103656 CA9839884 |
491 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA408925253 rs1480004462 |
492 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 495 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408925344 rs1358720103 |
502 | D>G | No |
ClinGen gnomAD |
|
|
CA314230067 rs189788874 |
502 | D>N | No |
ClinGen 1000Genomes |
|
|
CA408925399 rs1266934113 |
510 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 511 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761491789 CA9839913 |
512 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9839915 rs762816572 |
515 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1257817241 CA408925442 |
516 | R>T | No |
ClinGen TOPMed |
|
|
CA408925461 rs1384079427 |
519 | K>R | No |
ClinGen gnomAD |
|
|
CA408925483 rs1443259446 |
522 | N>S | No |
ClinGen gnomAD |
|
|
CA314230104 rs889583587 |
523 | S>C | No |
ClinGen Ensembl |
|
|
COSM1026343 rs1487657590 CA408925489 |
523 | S>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 526 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766159581 CA9839916 |
527 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA9839918 rs759516636 |
528 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200873928 CA9839917 |
528 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408925535 rs1398977316 |
530 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408925547 rs1447598597 |
532 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA408925546 rs1447598597 |
532 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs942560367 CA314230112 |
533 | E>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 533 | E>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408925562 rs375772370 |
534 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408925564 rs756356779 |
534 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839921 rs756356779 |
534 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143956221 CA9839922 |
535 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9839923 rs143956221 |
535 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9839924 rs757708154 RCV000503623 |
536 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9839925 rs779274953 |
536 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408925574 rs779274953 |
536 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757708154 CA408925571 |
536 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839926 rs746434554 |
537 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs6089015 CA314230135 |
537 | R>K | No |
ClinGen Ensembl |
|
|
rs543807039 CA9839927 |
539 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1252110938 CA408925594 |
540 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA314230139 rs13041394 |
541 | S>F | No |
ClinGen Ensembl |
|
|
CA314230158 rs888117506 |
542 | P>R | No |
ClinGen Ensembl |
|
|
rs780638341 CA9839928 |
542 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408925606 rs769375731 |
543 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839930 rs769375731 |
543 | A>T | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1034118361 CA314230169 |
545 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408925618 rs1192958650 |
545 | P>S | No |
ClinGen TOPMed |
|
|
rs1260604078 CA408925626 |
546 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 546 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs959105028 CA314230174 |
547 | P>A | No |
ClinGen TOPMed |
|
|
rs6089016 CA9839931 |
547 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs6089016 CA9839932 |
547 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs6089016 RCV000963029 CA231089 RCV000116978 |
547 | P>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs144426436 RCV000192502 RCV000960314 CA205358 |
548 | K>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs767586892 CA9839934 |
549 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408925640 rs767586892 |
549 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408925646 rs1217809827 |
550 | T>N | No |
ClinGen TOPMed |
|
|
rs146596538 CA9839935 |
551 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778642222 CA408925671 |
554 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs541698354 CA9839936 |
555 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754147491 CA9839937 |
555 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1600981661 CA408797423 |
562 | E>K | No |
ClinGen Ensembl |
|
|
rs1444150515 CA408797448 |
563 | G>D | No |
ClinGen gnomAD |
|
|
rs1474353645 CA408797467 |
565 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs951742956 CA314198769 |
567 | K>T | No |
ClinGen Ensembl |
|
|
CA408797568 rs761599879 |
570 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761599879 CA9840084 |
570 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372723927 CA9840085 |
571 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372723927 CA314198771 |
571 | P>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372723927 CA408797580 |
571 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9840086 rs113352451 |
572 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540306406 CA314198774 |
572 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA408797608 rs762915616 |
574 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs6142531 CA9840088 |
574 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408797611 rs6142531 |
574 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9840087 rs762915616 |
574 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354367651 CA408797692 |
579 | D>V | No |
ClinGen gnomAD |
|
|
rs1418273581 CA408797713 |
580 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 581 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9840089 rs377204947 |
582 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA314198779 rs377204947 |
582 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408797748 rs1334965145 |
583 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1334965145 CA408797751 |
583 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9840092 rs753110551 |
584 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9840093 rs756563491 |
585 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778121556 CA9840094 |
587 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 592 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs558063607 CA9840099 |
594 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1227188440 CA408797867 |
598 | H>D | No |
ClinGen gnomAD |
|
|
CA408797874 rs1410845038 |
598 | H>Q | No |
ClinGen TOPMed |
|
|
CA314198815 rs992808448 |
604 | K>R | No |
ClinGen gnomAD |
|
|
rs1374660377 CA408797923 |
606 | S>P | No |
ClinGen gnomAD |
|
|
COSM419418 rs1308937521 CA408797970 |
613 | T>A | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1314384073 CA408797972 |
613 | T>M | No |
ClinGen gnomAD |
|
|
CA314198827 rs914190492 |
616 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9840103 rs762904704 |
617 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9840104 rs766247531 |
618 | A>D | No |
ClinGen ExAC |
|
| TCGA novel | 621 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408798040 rs1309723956 |
623 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs759759881 CA9840105 |
624 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9840106 rs767842881 |
625 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs753022207 CA9840107 |
627 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9840108 rs756402849 |
628 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600983336 CA408798070 |
628 | Y>S | No |
ClinGen Ensembl |
|
|
rs754178599 CA9840110 |
630 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1569330507 CA408798098 |
630 | G>S | No |
ClinGen Ensembl |
|
|
CA9840111 rs757726650 |
631 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1394230058 CA408798140 |
632 | A>G | No |
ClinGen gnomAD |
|
|
CA314198869 rs993735906 COSM186111 |
632 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM1026345 CA9840113 RCV000504159 rs754539981 |
634 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA9840114 rs780799942 |
636 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA408798227 rs1263022752 |
637 | S>F | No |
ClinGen TOPMed |
|
|
CA16609541 rs1060499773 RCV000454281 |
638 | R>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA9840115 rs747834612 |
638 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9840116 rs747834612 |
638 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408798251 rs1363497688 |
639 | S>N | No |
ClinGen gnomAD |
|
|
CA9840117 rs773008318 |
640 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 642 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 643 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774491669 CA9840120 |
644 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9840121 rs774491669 |
644 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs78442416 CA9840122 RCV000904326 RCV000502073 |
645 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA408798322 rs1281508624 |
645 | R>W | No |
ClinGen gnomAD |
|
|
CA9840123 rs775744885 |
646 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA9840124 rs760904510 |
648 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA314198928 rs202053612 COSM1026347 |
648 | S>R | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs754163759 CA9840126 |
649 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408798348 rs754163759 |
649 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201212477 CA9840128 |
650 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9840127 rs762150722 |
650 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408798396 rs1425640979 |
652 | T>A | No |
ClinGen gnomAD |
|
|
rs750977787 CA9840130 |
652 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750977787 CA9840129 |
652 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314198956 rs981954089 |
654 | G>D | No |
ClinGen TOPMed |
|
|
rs752168455 CA9840132 |
655 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408798504 rs1324637170 |
658 | S>F | No |
ClinGen gnomAD |
|
|
rs140677677 CA9840135 |
659 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9840134 rs140442671 |
659 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200358974 CA9840136 |
660 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778966986 CA9840137 |
661 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA408798547 rs1309499162 |
662 | N>K | No |
ClinGen gnomAD |
|
|
rs1317590881 CA408798562 |
663 | K>R | No |
ClinGen gnomAD |
|
|
CA9840138 rs745760726 |
665 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1600984787 CA408798598 |
665 | A>V | No |
ClinGen Ensembl |
|
|
CA314198968 rs772159680 |
668 | Q>H | No |
ClinGen ExAC TOPMed |
|
|
rs775655096 CA9840140 |
669 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs530050047 CA314198977 |
670 | D>H | No |
ClinGen Ensembl |
|
|
CA408798722 rs1363444238 |
672 | S>F | No |
ClinGen gnomAD |
|
|
rs888934119 CA314198987 |
673 | G>R | No |
ClinGen gnomAD |
|
|
CA9840143 rs768916649 |
674 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9840142 rs768916649 |
674 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1008765355 CA314198995 |
675 | I>L | No |
ClinGen Ensembl |
|
|
CA9840144 rs556134409 |
679 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763397956 CA9840147 |
681 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9840148 rs766881473 |
681 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752379635 CA314199005 |
683 | A>S | No |
ClinGen Ensembl |
|
|
rs755641146 CA9840150 |
684 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs777463120 CA9840151 |
685 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA152740 rs73101499 RCV000116980 |
687 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1232925544 CA408798934 |
688 | D>Y | No |
ClinGen gnomAD |
|
|
CA9840153 rs778803277 |
690 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766860813 CA9840166 |
694 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs763476435 CA408799339 |
695 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763476435 CA9840169 |
695 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753411603 CA9840170 |
697 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1173795936 CA408799416 |
700 | M>I | No |
ClinGen TOPMed |
|
|
rs1277833898 CA408799404 |
700 | M>V | No |
ClinGen gnomAD |
|
|
rs1481179545 CA408799426 |
701 | T>I | No |
ClinGen TOPMed |
|
|
CA9840172 rs764987877 |
704 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs764987877 CA9840173 |
704 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs866595610 CA314199833 |
706 | A>T | No |
ClinGen Ensembl |
|
|
CA408799505 rs1569340412 |
707 | I>V | No |
ClinGen Ensembl |
|
|
CA9840175 rs146018323 |
709 | K>R | No |
ClinGen ESP ExAC |
|
|
rs781080703 CA314199847 |
712 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748237712 CA9840179 |
713 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 714 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749634256 CA9840182 |
716 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749634256 CA408799639 |
716 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365666194 CA408799684 |
719 | T>I | No |
ClinGen gnomAD |
|
|
rs768086646 CA9840187 |
721 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA408799699 rs1300963439 |
721 | V>F | No |
ClinGen gnomAD |
|
|
rs761484860 CA9840189 |
723 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1226621569 CA408799729 |
724 | M>V | No |
ClinGen TOPMed |
|
|
CA9840192 rs540700829 |
725 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs532611675 CA9840191 |
725 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA408799760 rs766043445 |
727 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375665311 CA408799757 |
727 | T>P | No |
ClinGen TOPMed |
|
|
CA9840193 rs766043445 |
727 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408799768 rs1478498162 |
728 | Q>H | No |
ClinGen gnomAD |
|
|
rs776199434 CA9840208 |
729 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392628359 CA408799983 |
730 | V>A | No |
ClinGen gnomAD |
|
|
rs761382789 CA9840209 |
730 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA314200513 rs546168761 |
732 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA408800017 rs1333674175 |
733 | S>C | No |
ClinGen gnomAD |
|
|
CA9840211 rs772875916 |
733 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs772875916 CA408800025 |
733 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA408800032 rs1288465640 |
734 | A>P | No |
ClinGen gnomAD |
|
|
rs762459672 CA9840212 |
736 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 737 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9840214 rs537484275 |
738 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1195645436 CA408800100 |
739 | E>D | No |
ClinGen gnomAD |
|
|
CA314200528 rs866017499 |
739 | E>K | No |
ClinGen Ensembl |
|
|
CA9840215 rs759440744 |
740 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767340893 CA9840216 |
742 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9840217 rs752672632 |
745 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9840218 rs149336325 |
747 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9840219 rs200279989 |
749 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9840221 rs200842517 |
752 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA314200543 rs1022328108 |
752 | I>V | No |
ClinGen gnomAD |
|
|
CA9840222 rs779265640 |
753 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408800254 rs1167152933 |
753 | S>P | No |
ClinGen gnomAD |
|
|
rs1308199206 CA408800283 |
755 | T>I | No |
ClinGen gnomAD |
|
|
rs780673476 CA9840225 |
756 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA9840224 rs772533166 |
756 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9840249 rs745477480 |
757 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs745477480 CA314202078 |
757 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs148049431 CA9840251 |
759 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771725212 CA9840250 |
759 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9840252 rs148049431 |
759 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408800916 rs1269396059 |
760 | L>P | No |
ClinGen TOPMed |
|
|
CA408800945 rs1286603812 |
762 | S>C | No |
ClinGen gnomAD |
|
|
CA408800947 rs1286603812 |
762 | S>F | No |
ClinGen gnomAD |
|
|
rs373110371 CA9840254 |
763 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9840256 rs761764835 |
766 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA9840255 rs761764835 |
766 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1369176934 CA408801046 |
769 | M>T | No |
ClinGen gnomAD |
|
|
rs750487801 CA9840257 |
770 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 773 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408801103 rs1302164614 |
773 | P>T | No |
ClinGen gnomAD |
|
|
CA408801119 rs1237047801 |
774 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9840258 rs758630893 |
774 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9840259 rs766713045 |
775 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA9840260 rs751967610 |
776 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1252169797 CA408801154 |
776 | V>L | No |
ClinGen gnomAD |
|
|
CA207518 RCV000193790 rs199993775 |
778 | T>A | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs141631788 CA9840261 |
778 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9840263 rs756602980 |
781 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs778429017 CA9840264 |
781 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9840265 rs377739207 |
784 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408801278 rs1458252464 |
784 | S>P | No |
ClinGen gnomAD |
|
|
CA9840266 rs771712736 |
785 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs981904005 CA314202447 |
786 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1229926137 CA408801418 |
787 | I>F | No |
ClinGen gnomAD |
|
|
CA9840283 rs749926283 |
788 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195737180 CA408801479 |
790 | D>E | No |
ClinGen TOPMed |
|
|
CA408801492 rs1202598394 |
791 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 791 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9840285 rs145931690 |
795 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408801579 rs746621229 |
797 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408801577 rs746621229 |
797 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3693459 CA9840287 rs746621229 |
797 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs768316823 CA9840288 |
798 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9840289 rs780979119 |
799 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1170871646 CA408801602 |
799 | T>N | No |
ClinGen gnomAD |
|
|
CA408801596 rs780979119 |
799 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9840290 rs747896639 |
800 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs773081212 CA9840292 |
801 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA408801620 rs1601070772 |
802 | T>P | No |
ClinGen Ensembl |
|
|
CA408801655 rs1284645153 |
808 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 811 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408801679 rs1280821871 |
811 | V>G | No |
ClinGen Ensembl |
|
|
rs771174444 CA9840294 |
813 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1197200089 CA408801897 |
814 | T>A | No |
ClinGen gnomAD |
|
|
rs141620088 CA9840311 |
815 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9840312 rs771007077 |
816 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA314203120 rs774507899 |
817 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs774507899 CA9840313 |
817 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA408801967 rs1409800565 |
818 | G>V | No |
ClinGen gnomAD |
|
|
rs1464877952 CA408802015 |
821 | E>G | No |
ClinGen TOPMed |
|
|
CA9840314 rs759757660 |
823 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA9840316 rs775628046 |
826 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs761073014 CA9840317 |
827 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764328855 COSM1026354 CA9840318 |
827 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs373997865 CA9840319 |
829 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 833 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs3210574 CA9840321 |
837 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751060862 CA9840322 |
838 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs754503829 CA9840323 |
839 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs752273205 CA9840342 |
841 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1601092125 CA408802719 |
846 | I>V | No |
ClinGen Ensembl |
|
|
rs932210362 CA314203322 |
847 | K>R | No |
ClinGen gnomAD |
|
|
rs1409488248 CA408802894 |
853 | H>Q | No |
ClinGen TOPMed |
|
|
CA314203326 rs146132421 |
860 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9840345 rs753672967 |
863 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371978327 CA9840344 COSM172440 |
863 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs757167798 CA9840346 |
865 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757167798 CA408803107 |
865 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA9840347 rs201412687 |
867 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1601092455 CA408803149 |
868 | D>A | No |
ClinGen Ensembl |
|
|
CA9840348 rs745755439 |
870 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA408803202 rs1308144579 |
871 | P>L | No |
ClinGen gnomAD |
|
|
rs1431222136 CA408803194 |
871 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 872 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408803254 rs1389237944 |
874 | R>T | No |
ClinGen Ensembl |
|
|
CA408803276 rs1315361487 |
875 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9840349 rs758385533 |
875 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs779936447 CA9840350 |
876 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408803307 rs1295824390 |
877 | K>T | No |
ClinGen gnomAD |
|
|
CA314203350 rs373458020 |
879 | Q>* | No |
ClinGen Ensembl |
|
|
CA408803334 rs1344626068 |
879 | Q>R | No |
ClinGen gnomAD |
|
|
CA314205777 rs912359730 |
880 | E>Q | No |
ClinGen Ensembl |
1 associated diseases with Q9H4G0
[MIM: 614257]: Intellectual developmental disorder, autosomal dominant 11 (MRD11)
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:21376300}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:21376300}. Note=The disease is caused by variants affecting the gene represented in this entry.
10 regional properties for Q9H4G0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | FERM domain | 97 - 378 | IPR000299 |
| domain | SAB domain | 493 - 544 | IPR007477 |
| domain | Band 4.1, C-terminal | 789 - 867 | IPR008379 |
| domain | FERM adjacent | 384 - 430 | IPR014847 |
| domain | FERM, N-terminal | 101 - 163 | IPR018979 |
| domain | FERM, C-terminal PH-like domain | 292 - 382 | IPR018980 |
| conserved_site | FERM conserved site | 151 - 179 | IPR019747-1 |
| conserved_site | FERM conserved site | 258 - 287 | IPR019747-2 |
| domain | FERM central domain | 181 - 288 | IPR019748 |
| domain | Band 4.1 domain | 93 - 288 | IPR019749 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| structural molecule activity | The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| actomyosin structure organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments. |
| cortical actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9N179 | EPB41 | Protein 4.1 | Bos taurus (Bovine) | PR |
| Q9HCM4 | EPB41L5 | Band 4.1-like protein 5 | Homo sapiens (Human) | PR |
| Q9HCS5 | EPB41L4A | Band 4.1-like protein 4A | Homo sapiens (Human) | PR |
| Q7Z6J6 | FRMD5 | FERM domain-containing protein 5 | Homo sapiens (Human) | PR |
| A2A2Y4 | FRMD3 | FERM domain-containing protein 3 | Homo sapiens (Human) | PR |
| O43491 | EPB41L2 | Band 4.1-like protein 2 | Homo sapiens (Human) | PR |
| P11171 | EPB41 | Protein 4.1 | Homo sapiens (Human) | PR |
| Q9Y2J2 | EPB41L3 | Band 4.1-like protein 3 | Homo sapiens (Human) | PR |
| P48193 | Epb41 | Protein 4.1 | Mus musculus (Mouse) | PR |
| O70318 | Epb41l2 | Band 4.1-like protein 2 | Mus musculus (Mouse) | PR |
| Q9WV92 | Epb41l3 | Band 4.1-like protein 3 | Mus musculus (Mouse) | PR |
| Q9Z2H5 | Epb41l1 | Band 4.1-like protein 1 | Mus musculus (Mouse) | PR |
| Q9WTP0 | Epb41l1 | Band 4.1-like protein 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTTETGPDSE | VKKAQEEAPQ | QPEAAAAVTT | PVTPAGHGHP | EANSNEKHPS | QQDTRPAEQS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LDMEEKDYSE | ADGLSERTTP | SKAQKSPQKI | AKKYKSAICR | VTLLDASEYE | CEVEKHGRGQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VLFDLVCEHL | NLLEKDYFGL | TFCDADSQKN | WLDPSKEIKK | QIRSSPWNFA | FTVKFYPPDP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AQLTEDITRY | YLCLQLRADI | ITGRLPCSFV | THALLGSYAV | QAELGDYDAE | EHVGNYVSEL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RFAPNQTREL | EERIMELHKT | YRGMTPGEAE | IHFLENAKKL | SMYGVDLHHA | KDSEGIDIML |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GVCANGLLIY | RDRLRINRFA | WPKILKISYK | RSNFYIKIRP | GEYEQFESTI | GFKLPNHRSA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KRLWKVCIEH | HTFFRLVSPE | PPPKGFLVMG | SKFRYSGRTQ | AQTRQASALI | DRPAPFFERS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SSKRYTMSRS | LDGAEFSRPA | SVSENHDAGP | DGDKRDEDGE | SGGQRSEAEE | GEVRTPTKIK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ELKPEQETTP | RHKQEFLDKP | EDVLLKHQAS | INELKRTLKE | PNSKLIHRDR | DWERERRLPS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SPASPSPKGT | PEKANERAGL | REGSEEKVKP | PRPRAPESDT | GDEDQDQERD | TVFLKDNHLA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IERKCSSITV | SSTSSLEAEV | DFTVIGDYHG | SAFEDFSRSL | PELDRDKSDS | DTEGLLFSRD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LNKGAPSQDD | ESGGIEDSPD | RGACSTPDMP | QFEPVKTETM | TVSSLAIRKK | IEPEAVLQTR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VSAMDNTQQV | DGSASVGREF | IATTPSITTE | TISTTMENSL | KSGKGAAAMI | PGPQTVATEI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| RSLSPIIGKD | VLTSTYGATA | ETLSTSTTTH | VTKTVKGGFS | ETRIEKRIII | TGDEDVDQDQ |
| 850 | 860 | 870 | 880 | ||
| ALALAIKEAK | LQHPDMLVTK | AVVYRETDPS | PEERDKKPQE | S |