Q9H7M6
PR
Gene name |
ZSWIM4 |
Protein name |
Zinc finger SWIM domain-containing protein 4 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:65249 |
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 Q9H7M6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H7M6-F1 | Predicted | AlphaFoldDB |
839 variants for Q9H7M6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA404408241 rs1599572424 |
2 | E>D | No |
ClinGen Ensembl |
|
|
CA404408227 rs1599572417 |
2 | E>K | No |
ClinGen Ensembl |
|
|
rs1006213778 CA305606780 |
3 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 5 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404408411 rs1285218438 |
10 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA404408409 rs1439855921 |
10 | R>W | No |
ClinGen TOPMed |
|
|
rs1489206023 CA404408471 |
12 | C>Y | No |
ClinGen TOPMed |
|
|
CA305606830 rs993220253 |
13 | P>S | No |
ClinGen TOPMed |
|
|
rs1030011400 CA305606834 |
16 | P>T | No |
ClinGen TOPMed |
|
|
CA404408596 rs1242477135 |
18 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA404408685 rs761230823 |
22 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443156715 CA404408693 |
22 | G>V | No |
ClinGen TOPMed |
|
|
CA9242341 rs761230823 |
22 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766866513 CA9242342 |
25 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA9242343 rs775001644 |
26 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534850044 CA9242344 |
27 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404408795 rs1245337728 |
28 | G>D | No |
ClinGen gnomAD |
|
|
CA9242345 rs763756010 |
29 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9242346 rs751179392 |
31 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484828467 CA404408857 |
31 | R>P | No |
ClinGen TOPMed |
|
|
rs1221052534 CA404408883 |
33 | E>* | No |
ClinGen gnomAD |
|
|
CA404408920 rs1402829578 |
34 | A>G | No |
ClinGen gnomAD |
|
|
CA9242347 rs756950298 |
34 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404408929 rs1217036856 |
35 | L>M | No |
ClinGen TOPMed |
|
|
CA404408965 rs767283792 |
37 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767283792 CA9242348 |
37 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278451602 CA404409040 |
40 | A>S | No |
ClinGen TOPMed |
|
|
rs958005854 CA305606861 |
42 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1428310280 CA404409092 |
43 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1428310280 CA404409093 |
43 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1004347427 CA305606886 |
47 | W>C | No |
ClinGen TOPMed |
|
|
rs989792607 CA305606874 |
47 | W>R | No |
ClinGen TOPMed |
|
|
CA9242375 rs778157687 |
55 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA404410468 rs1236282448 |
55 | R>W | No |
ClinGen gnomAD |
|
|
rs1473814322 CA404410497 |
56 | F>L | No |
ClinGen TOPMed |
|
|
CA9242376 rs371847941 |
57 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9242379 rs746343858 |
58 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781655188 CA9242378 |
58 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs902885281 CA305608980 |
59 | V>A | No |
ClinGen TOPMed |
|
|
CA9242380 rs770349251 |
60 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA305608992 rs1054172266 |
62 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 62 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404410644 rs1331862075 |
63 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1331862075 CA404410648 |
63 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs771663497 CA9242383 |
63 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel rs1356178636 CA404410686 |
64 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA404410713 rs1439999818 |
66 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1278398915 CA404410716 |
66 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9242385 rs760413220 |
67 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572209556 CA9242386 |
68 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA305609003 rs1007398542 |
71 | S>A | No |
ClinGen Ensembl |
|
|
CA9242389 rs765270232 |
73 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 74 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 74 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384862184 CA404410918 |
74 | R>L | No |
ClinGen TOPMed |
|
|
rs752771042 CA9242390 |
75 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA404410951 rs1274208969 |
76 | E>Q | No |
ClinGen gnomAD |
|
|
rs758577363 CA404410982 |
77 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs758577363 CA9242391 |
77 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs372791549 CA305609016 |
77 | R>W | No |
ClinGen ESP TOPMed |
|
|
rs145997771 CA9242392 |
80 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9242393 rs751702251 |
81 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA305609028 rs904361746 |
81 | M>T | No |
ClinGen TOPMed |
|
|
rs757555008 CA9242394 |
82 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375635969 CA404411161 |
85 | L>P | No |
ClinGen TOPMed |
|
|
rs770224639 CA9242397 |
86 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA404411236 rs1171102347 |
88 | P>L | No |
ClinGen gnomAD |
|
|
CA404411231 rs1171102347 |
88 | P>R | No |
ClinGen gnomAD |
|
|
COSM40801 rs966004581 CA305609047 |
89 | P>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA9242399 rs747616589 |
90 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9242400 rs771538922 |
92 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1052933518 CA305609069 |
93 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1349898336 CA404411347 |
93 | E>D | No |
ClinGen gnomAD |
|
|
rs1052933518 CA305609062 |
93 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA404411370 rs1406232825 |
94 | H>L | No |
ClinGen gnomAD |
|
|
rs1344452187 COSM460056 CA404411388 |
95 | D>N | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA404411423 rs1218885247 |
96 | A>S | No |
ClinGen gnomAD |
|
|
CA305609091 rs376618899 |
97 | R>L | No |
ClinGen gnomAD |
|
|
rs376618899 COSM1711892 CA404411440 |
97 | R>Q | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs760233986 CA9242402 |
97 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA404411504 rs1268488151 |
101 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA404411492 rs1599577666 TCGA novel |
101 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs369720289 CA9242403 |
102 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9242404 rs542889635 |
102 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM474222 rs765220980 CA9242406 |
103 | G>R | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1599577702 CA404411562 |
105 | H>N | No |
ClinGen Ensembl |
|
|
CA9242407 rs752715832 |
105 | H>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 106 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194210797 CA404411648 |
108 | Q>H | No |
ClinGen gnomAD |
|
|
CA404411673 rs141882486 |
109 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs543482798 CA9242410 |
110 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404411722 rs1336472794 COSM3822074 |
112 | V>M | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA9242412 rs757351449 |
114 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292524940 CA404411793 |
114 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1337576082 CA404411813 |
115 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9242415 rs756501523 |
116 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs750703596 CA9242414 |
116 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324380855 CA404411871 |
118 | V>M | No |
ClinGen gnomAD |
|
|
CA404411894 rs1270017722 |
119 | G>* | No |
ClinGen gnomAD |
|
|
CA404413293 rs1599584818 |
121 | H>P | No |
ClinGen Ensembl |
|
|
rs769633720 CA9242441 |
123 | S>G | No |
ClinGen ExAC |
|
|
rs749104648 CA9242443 |
124 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1392529829 CA404413351 |
125 | N>S | No |
ClinGen gnomAD |
|
|
rs541390867 CA9242444 |
126 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150620785 CA9242445 |
127 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9242446 rs73511513 |
127 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404413374 rs150620785 |
127 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404413411 rs1304200073 |
128 | E>D | No |
ClinGen TOPMed |
|
|
rs754144978 CA9242451 |
128 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375473710 CA9242450 |
128 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404413443 rs1480888371 |
130 | G>R | No |
ClinGen gnomAD |
|
|
rs765626022 CA9242453 |
131 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1247727250 CA404413479 |
132 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1436740206 CA404413544 |
134 | E>K | No |
ClinGen gnomAD |
|
|
rs867470673 CA305612862 |
135 | P>H | No |
ClinGen Ensembl |
|
|
rs867470673 CA305612863 |
135 | P>L | No |
ClinGen Ensembl |
|
|
rs1454918757 CA404413629 |
136 | E>A | No |
ClinGen TOPMed |
|
|
rs377025716 CA9242456 |
136 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377025716 CA9242457 |
136 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs533979909 CA305612872 |
137 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs755768359 CA9242458 |
137 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377447924 CA404414584 |
140 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA305612894 rs937418095 |
146 | D>G | No |
ClinGen TOPMed |
|
|
CA9242461 rs147523825 |
146 | D>N | No |
ClinGen ESP ExAC TOPMed |
|
|
rs375720071 CA305612900 |
147 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA404414767 rs1303874483 |
147 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1057179020 CA305612915 |
151 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs774329836 CA9242466 |
153 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404414904 rs774329836 |
153 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573798000 CA404414976 |
156 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1270474485 CA404414981 |
156 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs573798000 CA9242468 |
156 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1270474485 CA404414984 |
156 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404415006 rs1599585142 |
157 | C>W | No |
ClinGen Ensembl |
|
|
CA9242470 rs759721253 |
158 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs765615457 CA9242471 |
160 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs765615457 CA404415045 |
160 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs753063903 CA9242472 |
160 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253004501 CA404415068 |
161 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1253004501 CA404415065 |
161 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs755713293 CA9242476 |
168 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1164236875 CA404415280 |
170 | A>S | No |
ClinGen gnomAD |
|
|
rs1164236875 CA404415283 |
170 | A>T | No |
ClinGen gnomAD |
|
|
CA9242477 rs779749381 |
172 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1403268262 CA404415326 |
173 | L>M | No |
ClinGen gnomAD |
|
|
rs1293178454 CA404415348 |
174 | Y>C | No |
ClinGen gnomAD |
|
|
CA404415347 rs1293178454 |
174 | Y>F | No |
ClinGen gnomAD |
|
|
CA9242479 rs754642864 |
175 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1293228673 CA404415380 |
175 | R>H | No |
ClinGen gnomAD |
|
|
CA305613094 rs1032405975 |
176 | I>V | No |
ClinGen Ensembl |
|
|
rs1246651340 CA404415406 |
177 | R>Q | No |
ClinGen gnomAD |
|
|
rs1356661024 CA404415414 |
178 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs771941547 CA9242482 |
179 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA305613102 rs1019384373 |
180 | H>Q | No |
ClinGen Ensembl |
|
|
CA9242483 rs777711157 |
180 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA404415477 rs1465564806 |
181 | Q>R | No |
ClinGen TOPMed |
|
|
CA9242484 rs747051995 |
183 | E>K | No |
ClinGen ExAC |
|
|
CA9242486 rs776744744 |
185 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA404415522 rs1449347120 |
185 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA404415554 rs1599585386 |
188 | I>L | No |
ClinGen Ensembl |
|
|
rs769981250 CA9242488 |
190 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs769981250 CA404415582 |
190 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9242490 rs371500986 |
191 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9242489 COSM3718106 rs371500986 |
191 | T>M | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1164256809 CA404415603 |
191 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 192 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 193 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9242493 rs752078090 |
196 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA9242492 rs752078090 |
196 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs543960712 CA404415744 |
197 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404415750 rs1453202266 |
197 | R>Q | No |
ClinGen gnomAD |
|
|
rs543960712 CA9242494 |
197 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9242498 rs752490023 |
204 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA9242497 rs764812640 |
204 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA305613165 rs972581501 |
208 | I>F | No |
ClinGen Ensembl |
|
|
rs1213245808 CA404416015 |
209 | S>G | No |
ClinGen gnomAD |
|
|
CA9242500 rs777586507 |
210 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305613171 rs200104413 |
210 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404416056 rs1449871197 |
211 | H>Y | No |
ClinGen TOPMed |
|
|
CA305613172 rs931203503 |
212 | H>Y | No |
ClinGen Ensembl |
|
|
rs199644245 CA404416111 |
213 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 213 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199644245 CA9242502 |
213 | T>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs577485988 CA9242503 |
214 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA305613176 rs554641061 |
218 | T>A | No |
ClinGen gnomAD |
|
|
CA404416332 rs927275565 |
220 | Q>* | No |
ClinGen gnomAD |
|
|
CA305613182 rs927275565 |
220 | Q>E | No |
ClinGen gnomAD |
|
|
rs1417287484 CA404416348 |
221 | R>C | No |
ClinGen TOPMed |
|
|
CA9242505 rs376670331 |
221 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 221 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 228 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447225677 CA404416520 |
230 | G>S | No |
ClinGen gnomAD |
|
|
CA9242512 rs145598293 |
232 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA404416977 rs1300921686 |
238 | G>D | No |
ClinGen gnomAD |
|
|
CA404417012 rs1599590282 |
241 | D>A | No |
ClinGen Ensembl |
|
|
CA404417033 rs1599590287 |
243 | T>P | No |
ClinGen Ensembl |
|
|
CA404417043 rs1271186296 |
244 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA404417050 rs1439714798 |
244 | A>V | No |
ClinGen TOPMed |
|
|
CA404417058 rs1364638272 |
245 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA404417055 rs1364638272 |
245 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9242547 rs767383130 |
246 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9242548 rs767383130 |
246 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599590370 CA404417097 |
248 | I>T | No |
ClinGen Ensembl |
|
|
rs372440237 CA9242550 |
249 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372440237 CA9242551 |
249 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755192310 CA9242552 |
251 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404417178 rs1187858952 |
254 | W>* | No |
ClinGen gnomAD |
|
|
rs1347329470 CA404417187 |
255 | H>Y | No |
ClinGen TOPMed |
|
|
rs1445910098 CA404417220 |
258 | E>K | No |
ClinGen gnomAD |
|
|
rs1160989919 CA404417240 |
259 | E>G | No |
ClinGen gnomAD |
|
|
CA404417271 rs1389535793 |
261 | I>M | No |
ClinGen gnomAD |
|
|
rs772295738 CA9242555 |
264 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA404417310 rs1368874814 |
265 | V>L | No |
ClinGen TOPMed |
|
|
rs200666344 CA9242556 |
267 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1319345819 CA404417330 |
267 | Q>K | No |
ClinGen gnomAD |
|
|
rs1433450981 CA404417364 |
270 | S>P | No |
ClinGen gnomAD |
|
|
rs747461492 CA9242557 |
271 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771537847 CA9242558 |
272 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA404417405 rs1355851715 |
273 | G>A | No |
ClinGen gnomAD |
|
|
rs1282551254 CA404417402 |
273 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1355851715 CA404417407 |
273 | G>D | No |
ClinGen gnomAD |
|
|
rs1282551254 CA404417398 |
273 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs149065965 CA9242559 |
275 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1205982233 CA404418009 |
275 | Y>H | No |
ClinGen gnomAD |
|
|
rs376673836 CA9242560 |
276 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773957650 CA9242562 |
277 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA305615574 rs62124255 |
277 | A>V | No |
ClinGen Ensembl |
|
|
CA9242563 rs761573896 |
278 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs767199789 CA9242565 |
283 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9242564 rs767199789 |
283 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9242567 rs371862043 |
284 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9242566 rs760461065 |
284 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs969368406 CA305615584 |
284 | M>V | No |
ClinGen Ensembl |
|
|
CA305615592 rs939411993 |
286 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9242568 rs753918940 |
286 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868841243 CA305615600 |
287 | K>R | No |
ClinGen Ensembl |
|
|
CA404418237 rs747705445 |
288 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs747705445 CA9242599 |
288 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9242600 rs377094220 |
289 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404418280 rs1320600478 |
291 | M>T | No |
ClinGen TOPMed |
|
|
rs1303965987 CA404418305 |
293 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs770827401 CA9242603 COSM1390854 |
295 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
rs746681127 CA9242602 |
295 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs776627720 CA404418359 |
297 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs776627720 CA9242604 |
297 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA404418353 rs1384830078 |
297 | S>T | No |
ClinGen gnomAD |
|
|
CA9242605 rs759544167 |
298 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1340864405 CA404418401 |
300 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1379334150 CA404418391 |
300 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA404418399 rs1340864405 |
300 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404418407 rs1293487304 |
301 | R>C | No |
ClinGen gnomAD |
|
|
rs764116230 CA9242609 |
301 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA404418440 rs1208411455 |
304 | I>L | No |
ClinGen gnomAD |
|
|
COSM3728405 CA9242611 rs528311511 |
308 | E>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA305615787 rs528311511 |
308 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1171148226 CA404418515 |
309 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 311 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404418552 rs1448931298 |
312 | Q>E | No |
ClinGen gnomAD |
|
|
rs1164336270 CA404418566 |
312 | Q>H | No |
ClinGen gnomAD |
|
|
CA404418599 rs1167259239 |
315 | R>C | No |
ClinGen TOPMed |
|
|
rs780560677 CA9242615 |
315 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1249973343 CA404418622 |
317 | A>T | No |
ClinGen TOPMed |
|
|
rs1437121347 CA404418663 |
320 | R>Q | No |
ClinGen gnomAD |
|
|
rs1175528817 CA404418661 |
320 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1239269606 CA404418678 |
321 | Q>R | No |
ClinGen TOPMed |
|
|
rs1213475669 CA404418685 |
322 | Q>E | No |
ClinGen TOPMed |
|
|
CA404418713 rs1419934274 |
324 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 324 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3692397 CA9242619 rs746661524 |
327 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA404418761 rs746661524 |
327 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776504497 CA9242621 |
329 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA305615854 rs376599224 |
330 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1243617359 CA404418799 |
330 | C>Y | No |
ClinGen gnomAD |
|
|
rs568579834 CA9242625 |
331 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9242623 rs769810063 |
331 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs946620810 CA305615864 |
333 | L>V | No |
ClinGen TOPMed |
|
|
CA9242627 rs774359003 |
334 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA404418875 rs1416094966 |
335 | D>V | No |
ClinGen gnomAD |
|
|
rs761953746 CA9242628 |
336 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA404419936 rs1350271794 |
338 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1350271794 CA404419931 |
338 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA305618875 rs775242858 |
339 | A>G | No |
ClinGen Ensembl |
|
|
rs370863683 CA9242654 |
339 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9242655 rs370863683 |
339 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1018188238 CA305618885 |
342 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9242658 rs576691221 |
344 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9242660 rs373955961 |
345 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404420119 rs1480635851 |
347 | S>G | No |
ClinGen gnomAD |
|
|
COSM1234841 rs377659254 CA305618913 |
348 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs377659254 CA404420169 |
348 | P>R | No |
ClinGen Ensembl |
|
|
rs778851161 CA9242662 |
349 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA9242663 rs748123433 |
349 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs773338398 CA9242665 |
350 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1026580992 CA305618925 |
351 | K>E | No |
ClinGen Ensembl |
|
|
CA9242666 rs747227927 |
354 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9242667 rs771065112 |
356 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305618930 rs771065112 |
356 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404421715 rs1599597455 |
357 | G>D | No |
ClinGen Ensembl |
|
|
rs1277027368 CA404421709 |
357 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1184366835 CA404421794 |
363 | S>R | No |
ClinGen TOPMed |
|
|
rs1366052056 CA404421813 |
364 | R>K | No |
ClinGen gnomAD |
|
|
rs759843627 CA9242669 CA404421847 |
366 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9242670 rs765738186 |
368 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs150148712 CA9242672 |
369 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201840736 CA9242674 |
370 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201840736 CA404421891 |
370 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404421940 rs1477617485 |
374 | E>K | No |
ClinGen gnomAD |
|
|
rs754697824 CA9242678 |
377 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1599597586 CA404422004 |
378 | Y>S | No |
ClinGen Ensembl |
|
|
rs924506421 CA305618981 |
379 | S>C | No |
ClinGen Ensembl |
|
|
rs559934421 CA9242679 CA404422035 |
380 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9242681 rs758398044 |
381 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9242683 rs541258803 |
382 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs943409306 CA305618989 |
384 | S>N | No |
ClinGen TOPMed |
|
|
rs771137578 CA9242684 |
384 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA404422082 rs1436277053 |
387 | P>S | No |
ClinGen gnomAD |
|
|
rs770036782 CA9242687 |
390 | A>G | No |
ClinGen ExAC TOPMed |
|
|
CA404422127 rs1568335282 |
390 | A>S | No |
ClinGen Ensembl |
|
|
rs143049894 CA9242689 |
392 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404347683 rs1413789105 |
395 | L>V | No |
ClinGen gnomAD |
|
|
rs1473934084 CA404347824 |
401 | T>I | No |
ClinGen TOPMed |
|
|
rs1024765116 CA305580547 |
402 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs757227615 CA9242721 |
403 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750578630 CA9242723 |
406 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA9242726 rs749554376 |
408 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA9242727 rs201290872 |
410 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1205757907 CA404348724 |
411 | G>E | No |
ClinGen TOPMed |
|
|
rs1599604198 CA404348730 |
412 | H>P | No |
ClinGen Ensembl |
|
|
rs779349666 CA9242729 |
413 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA404348749 rs1599604217 |
415 | D>A | No |
ClinGen Ensembl |
|
|
rs1179801852 CA404348764 |
417 | I>M | No |
ClinGen gnomAD |
|
|
rs770828140 CA9242731 |
417 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775989919 CA9242732 |
418 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA404348798 rs1356941116 |
422 | R>S | No |
ClinGen gnomAD |
|
|
CA404348804 rs1361208739 |
423 | A>V | No |
ClinGen TOPMed |
|
|
CA9242734 rs769402782 |
424 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1201774028 CA404348825 |
427 | A>S | No |
ClinGen gnomAD |
|
|
CA305580609 rs1037183144 |
429 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1373923163 CA404348860 |
429 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs140227825 CA9242737 |
431 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404348976 rs1442906415 |
435 | L>V | No |
ClinGen TOPMed |
|
|
CA305580629 rs1048719631 |
436 | T>S | No |
ClinGen gnomAD |
|
|
CA9242740 rs776606416 |
438 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404349167 rs1270006027 |
440 | D>E | No |
ClinGen gnomAD |
|
|
CA404349203 rs1444777139 |
442 | G>D | No |
ClinGen gnomAD |
|
|
rs965431271 CA305580917 |
442 | G>S | No |
ClinGen Ensembl |
|
|
CA404349225 rs1473590026 |
443 | P>L | No |
ClinGen gnomAD |
|
|
rs1237675303 CA404349213 |
443 | P>S | No |
ClinGen gnomAD |
|
|
CA9242770 rs747454309 |
444 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA404349305 rs370112851 |
446 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9242771 rs370112851 |
446 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs950257490 CA305580923 |
446 | R>W | No |
ClinGen TOPMed |
|
|
rs1160543864 CA404349368 |
448 | V>M | No |
ClinGen gnomAD |
|
|
CA305580929 rs918728872 |
449 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1317749448 CA404349440 |
451 | Q>K | No |
ClinGen gnomAD |
|
|
CA404349483 rs1450471018 |
453 | V>M | No |
ClinGen gnomAD |
|
|
rs779531452 CA9242772 |
456 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA404349551 rs1354570450 |
456 | P>R | No |
ClinGen gnomAD |
|
|
rs1228850356 CA404349573 |
457 | G>R | No |
ClinGen gnomAD |
|
|
rs1293351647 CA404349603 |
458 | S>I | No |
ClinGen TOPMed |
|
|
CA404349614 rs775396976 |
458 | S>R | No |
ClinGen Ensembl |
|
|
rs768166838 CA9242774 |
459 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA305580944 rs953004480 |
460 | G>E | No |
ClinGen gnomAD |
|
|
CA404349657 rs1203990562 |
460 | G>R | No |
ClinGen gnomAD |
|
|
rs1443724225 CA404349709 |
461 | E>K | No |
ClinGen gnomAD |
|
|
rs1443724225 CA404349711 |
461 | E>Q | No |
ClinGen gnomAD |
|
|
CA404349756 rs1208258072 |
462 | S>F | No |
ClinGen gnomAD |
|
|
CA404349784 rs1256446699 |
463 | Y>* | No |
ClinGen gnomAD |
|
|
rs1568339120 CA404349773 |
463 | Y>C | No |
ClinGen Ensembl |
|
|
rs1183415050 CA404349869 |
467 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1183415050 CA404349872 |
467 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1179033694 CA404349896 |
468 | L>P | No |
ClinGen TOPMed |
|
|
rs771844427 CA9242778 |
470 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9242777 rs139843367 |
470 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1251120789 CA404349991 |
471 | A>V | No |
ClinGen TOPMed |
|
|
rs186529814 CA9242779 |
474 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404350114 rs1410188501 |
476 | G>R | No |
ClinGen gnomAD |
|
|
CA404350221 CA404350215 rs1290012087 |
478 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1238255415 CA404350235 |
479 | R>Q | No |
ClinGen gnomAD |
|
|
rs1333872384 CA404350229 |
479 | R>W | No |
ClinGen gnomAD |
|
|
rs760685443 CA9242780 |
480 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1307257709 CA404350318 |
482 | P>L | No |
ClinGen TOPMed |
|
|
CA305580965 rs867095101 |
483 | E>K | No |
ClinGen Ensembl |
|
|
rs1262459228 CA404350431 |
485 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1279133813 CA404350423 |
485 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404350455 rs1483191067 |
486 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9242782 rs776829346 |
486 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054793203 COSM1685077 CA305580969 |
487 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA404350516 rs1436520190 |
487 | A>V | No |
ClinGen gnomAD |
|
|
rs765261071 CA9242784 |
488 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404350711 rs1156349127 |
492 | V>L | No |
ClinGen TOPMed |
|
|
rs1394656557 CA404350766 |
493 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 494 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9242785 rs752912996 |
494 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1394046728 CA404350801 |
495 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA404350872 rs1042175103 |
497 | Q>* | No |
ClinGen TOPMed |
|
|
rs1042175103 CA305580992 |
497 | Q>K | No |
ClinGen TOPMed |
|
|
rs902321965 CA305580995 |
500 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 500 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404351045 rs1373160013 |
503 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA404351051 rs1438016824 |
504 | E>K | No |
ClinGen gnomAD |
|
|
rs1302098908 CA404351105 |
505 | V>M | No |
ClinGen gnomAD |
|
|
CA404351153 rs1342349876 |
506 | E>Q | No |
ClinGen gnomAD |
|
|
rs1249317829 CA404351206 |
507 | L>W | No |
ClinGen gnomAD |
|
|
rs764372194 CA9242787 |
508 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9242786 rs763094404 |
508 | D>N | No |
ClinGen ExAC |
|
|
CA404351281 rs1195629143 |
510 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA404351370 rs1268642755 |
513 | Q>* | No |
ClinGen gnomAD |
|
|
rs1191787612 CA404351495 |
516 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA404351528 rs1252457844 |
517 | K>N | No |
ClinGen gnomAD |
|
|
CA9242788 rs751983150 |
519 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404351586 rs1172793365 |
520 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1172793365 CA404351591 |
520 | G>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 521 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404351620 rs1568339454 |
521 | L>R | No |
ClinGen Ensembl |
|
|
CA404351643 rs1253454120 |
522 | L>Q | No |
ClinGen gnomAD |
|
|
CA9242795 rs771688961 |
526 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404353144 rs771688961 |
526 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305581558 rs928530682 |
528 | F>C | No |
ClinGen TOPMed |
|
|
CA404353413 CA404353417 rs1383747549 |
534 | V>L | No |
ClinGen gnomAD |
|
|
rs376521366 CA9242797 |
537 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376521366 CA9242798 COSM324596 |
537 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9242796 rs145487028 |
537 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 538 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1231883970 CA404353493 |
538 | E>K | No |
ClinGen gnomAD |
|
|
CA404353643 rs1599607448 |
540 | V>G | No |
ClinGen Ensembl |
|
|
rs759412542 CA9242800 |
540 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9242801 rs532306894 |
543 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404353789 rs1202750600 |
544 | T>A | No |
ClinGen TOPMed |
|
|
CA9242802 rs775433940 |
544 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1202750600 CA404353788 |
544 | T>P | No |
ClinGen TOPMed |
|
|
rs777464985 CA9242803 |
547 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9242804 rs777464985 |
547 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM181295 CA9242805 rs751893324 |
547 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1245318378 CA404353938 |
548 | Y>C | No |
ClinGen TOPMed |
|
|
CA404353931 rs762129863 |
548 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA9242806 rs762129863 |
548 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1245318378 CA404353937 |
548 | Y>S | No |
ClinGen TOPMed |
|
|
CA404353964 rs1357934688 |
550 | F>V | No |
ClinGen TOPMed |
|
|
rs1599607528 CA404354005 |
551 | T>P | No |
ClinGen Ensembl |
|
|
rs199623743 CA404354024 |
552 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199623743 CA9242809 COSM1318371 |
552 | A>T | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1314294512 CA404354101 |
555 | P>L | No |
ClinGen gnomAD |
|
|
rs140284869 CA305581600 |
555 | P>S | No |
ClinGen ESP gnomAD |
|
|
rs778482002 CA404354120 |
556 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305581603 rs559660684 |
556 | H>Y | No |
ClinGen 1000Genomes TOPMed |
|
|
rs80004758 CA9242812 |
558 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404354186 rs1225988354 |
559 | D>H | No |
ClinGen gnomAD |
|
|
rs1305567127 CA404354202 |
559 | D>V | No |
ClinGen gnomAD |
|
|
CA404354190 rs1225988354 |
559 | D>Y | No |
ClinGen gnomAD |
|
|
CA9242813 rs777608707 |
562 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146417317 CA9242814 |
563 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146417317 CA9242815 |
563 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199741112 COSM3932900 CA9242816 |
563 | R>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs898023201 CA305581630 |
564 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA9242818 rs201627457 |
565 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404354352 rs1175403044 |
565 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762987337 CA9242820 |
566 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404354385 rs1246221522 |
567 | R>* | No |
ClinGen TOPMed |
|
|
CA305581644 rs553967723 |
567 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA404354421 rs1305388011 |
568 | A>V | No |
ClinGen TOPMed |
|
|
rs1433750245 CA404354431 |
569 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 571 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756971838 CA9242834 |
572 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400409205 CA404356728 |
572 | P>S | No |
ClinGen TOPMed |
|
|
rs567564999 CA9242836 |
574 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1019785395 CA305583010 |
576 | T>I | No |
ClinGen Ensembl |
|
|
rs537412517 CA9242838 |
577 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404356943 rs1272066099 |
578 | F>L | No |
ClinGen gnomAD |
|
|
rs768666850 CA9242840 |
580 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA9242839 rs749274309 |
580 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs779947746 CA305583017 |
581 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404357064 rs1467637291 |
582 | E>Q | No |
ClinGen gnomAD |
|
|
CA9242842 rs748366760 |
583 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9242841 rs774421306 |
583 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772340315 CA9242843 |
584 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1185099065 CA404357189 |
585 | P>L | No |
ClinGen gnomAD |
|
|
rs760985629 CA9242845 |
587 | P>L | Variant assessed as Somatic; 4.634e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA404357266 rs1289280021 |
588 | L>M | No |
ClinGen TOPMed |
|
|
rs776952137 CA9242847 |
589 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9242848 rs760131656 |
590 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA305583050 rs1036931839 |
591 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA404357349 rs1319073708 |
591 | I>V | No |
ClinGen gnomAD |
|
|
CA404357479 rs1269883307 |
594 | N>T | No |
ClinGen gnomAD |
|
|
CA9242849 rs763628090 |
595 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA305583054 rs897186419 |
595 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs751178850 CA9242850 |
596 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1311845130 CA404357599 |
597 | P>L | No |
ClinGen TOPMed |
|
|
rs767121708 CA9242852 |
598 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767121708 CA404357604 |
598 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866165324 CA305583067 |
598 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 599 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs889853702 CA305583072 |
601 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404357751 rs1257833413 |
602 | L>P | No |
ClinGen gnomAD |
|
|
CA404357756 rs1257833413 |
602 | L>R | No |
ClinGen gnomAD |
|
|
CA9242854 rs755821003 |
603 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9242855 rs779915210 |
604 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1472778145 CA404357823 |
605 | L>M | No |
ClinGen gnomAD |
|
|
CA305583083 rs1004997265 |
605 | L>R | No |
ClinGen Ensembl |
|
| TCGA novel | 607 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9242856 rs749160605 |
607 | T>P | No |
ClinGen ExAC |
|
|
CA9242858 rs754976525 |
608 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151198284 CA9242859 |
608 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9242860 rs748276694 |
609 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1376356547 CA404357954 |
610 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA9242861 rs772252299 |
611 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1310849465 CA404358034 |
613 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1310849465 CA404358026 |
613 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1354695148 CA404358049 |
613 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 614 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs76549352 CA9242863 |
616 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771141038 CA9242864 |
618 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760113148 CA9242866 |
619 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs773972459 CA305583120 |
620 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9242868 rs773972459 |
620 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA404358307 rs769835131 |
621 | K>N | No |
ClinGen TOPMed |
|
|
CA404358292 rs1599612287 |
621 | K>Q | No |
ClinGen Ensembl |
|
|
rs1442257905 CA404358294 |
621 | K>R | No |
ClinGen gnomAD |
|
|
CA404358293 rs1442257905 |
621 | K>T | No |
ClinGen gnomAD |
|
|
CA404360086 rs1337961529 |
624 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404360186 rs1599615190 |
627 | L>R | No |
ClinGen Ensembl |
|
|
rs898448503 CA305583682 |
629 | T>A | No |
ClinGen gnomAD |
|
|
CA9242893 rs62620757 |
629 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404360232 rs898448503 |
629 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 631 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211961467 CA404360296 |
632 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1599615219 CA404360336 |
633 | S>P | No |
ClinGen Ensembl |
|
|
CA404360390 rs1429338866 |
634 | I>S | No |
ClinGen gnomAD |
|
|
CA9242896 rs143092042 |
636 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404360542 rs1599615241 |
637 | N>T | No |
ClinGen Ensembl |
|
|
rs1022948196 CA305583693 |
640 | S>P | No |
ClinGen TOPMed |
|
|
CA404360657 rs1165562182 |
641 | P>A | No |
ClinGen gnomAD |
|
|
rs757394570 CA9242898 |
641 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1165562182 CA404360658 |
641 | P>S | No |
ClinGen gnomAD |
|
|
rs1292438632 CA404360725 |
644 | L>F | No |
ClinGen gnomAD |
|
|
rs746120914 CA9242900 |
647 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs769267888 CA9242904 |
651 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746569528 CA9242906 |
653 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA404361069 rs1231454668 |
654 | T>S | No |
ClinGen gnomAD |
|
|
rs770461653 CA9242907 |
655 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 656 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305583710 rs547902221 |
657 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9242909 rs547902221 |
657 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776218654 CA9242908 |
657 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs775330513 CA9242911 |
658 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA404361185 rs775330513 |
658 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9242914 rs149643803 |
660 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404361330 rs1313271811 |
662 | P>L | No |
ClinGen TOPMed |
|
|
CA9242916 rs767721822 |
664 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA9242917 rs144367510 |
665 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9242920 rs749711795 |
668 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs148770836 CA9242921 |
669 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404361536 rs748626782 |
670 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748626782 CA9242923 |
670 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1019225949 CA305583733 |
671 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1019225949 CA404361569 |
671 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1161298321 CA404361563 |
671 | L>V | No |
ClinGen TOPMed |
|
|
CA404361588 rs1413926414 |
672 | E>D | No |
ClinGen TOPMed |
|
|
CA404361612 rs1353268766 |
674 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 675 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404361647 rs1211285249 |
675 | L>Q | No |
ClinGen gnomAD |
|
|
CA404361670 rs1259383463 |
676 | Q>* | No |
ClinGen gnomAD |
|
|
CA9242948 rs375327694 |
678 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9242949 rs769400704 |
679 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1007165557 CA305584553 |
679 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs564598062 CA9242951 |
684 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1196645282 CA404363107 |
685 | M>I | No |
ClinGen gnomAD |
|
|
rs141544970 CA9242953 |
685 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404363055 rs1233666544 |
685 | M>V | No |
ClinGen TOPMed |
|
|
CA9242954 rs761832673 |
687 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs760797707 CA9242957 |
688 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772188530 CA9242956 |
688 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9242958 rs763201429 |
689 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426906948 CA404363208 |
689 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs759680324 CA9242960 |
692 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9242962 rs753061621 |
693 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA9242961 rs765627865 |
693 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA404363367 rs1400286190 |
694 | R>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 694 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139232826 CA9242963 |
694 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778288911 CA9242964 |
695 | W>* | No |
ClinGen ExAC |
|
|
rs1599619667 CA404363448 |
697 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 698 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360456732 CA404363475 |
698 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs144028655 CA9242968 |
703 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9242967 rs779441042 |
703 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305584990 rs747783193 |
705 | P>L | No |
ClinGen gnomAD |
|
|
rs747783193 CA404365430 |
705 | P>Q | No |
ClinGen gnomAD |
|
|
CA404365448 rs1382367091 |
706 | Q>* | No |
ClinGen gnomAD |
|
|
rs1382367091 CA404365440 |
706 | Q>E | No |
ClinGen gnomAD |
|
|
CA9242995 rs56177954 |
710 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404365673 rs1375806429 |
713 | Q>R | No |
ClinGen gnomAD |
|
|
rs1436429395 CA404365744 |
715 | W>L | No |
ClinGen gnomAD |
|
|
rs745973423 CA9242997 |
717 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404365790 rs1332097081 |
717 | S>P | No |
ClinGen gnomAD |
|
|
rs769943798 CA9242998 |
718 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 719 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145674717 CA305584998 |
721 | P>L | No |
ClinGen ESP |
|
|
rs1476671871 CA404365950 |
724 | A>V | No |
ClinGen TOPMed |
|
|
CA305585002 rs935110038 |
725 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1599621279 CA404365966 |
726 | T>P | No |
ClinGen Ensembl |
|
|
rs148900071 CA305585005 |
727 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA9243002 rs556579946 |
728 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA305585010 rs556579946 |
728 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767952514 CA9243004 |
731 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1008597625 CA305585015 |
732 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1008597625 CA404366054 |
732 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9243006 rs754397427 |
733 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA404366073 rs1599621329 |
733 | T>P | No |
ClinGen Ensembl |
|
|
rs764853255 CA9243007 |
734 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs764853255 CA404366084 |
734 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs141666721 CA9243008 |
735 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404366114 rs1478853177 |
736 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs777696329 CA9243010 |
736 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA305585023 rs899836142 |
740 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1410482866 CA404366192 |
740 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1410482866 COSM1564660 CA404366188 |
740 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA404366245 rs1445483433 |
742 | Q>H | No |
ClinGen gnomAD |
|
|
CA9243012 rs757186590 |
742 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA404366234 rs757186590 |
742 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA305585029 rs1018200872 |
746 | S>T | No |
ClinGen Ensembl |
|
|
CA305585031 rs746795904 |
746 | S>W | No |
ClinGen TOPMed |
|
|
CA9243014 rs745837533 |
747 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9243013 rs780947938 |
747 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1344810485 CA404366360 |
748 | R>G | No |
ClinGen gnomAD |
|
|
CA404366367 rs1436130176 |
748 | R>K | No |
ClinGen gnomAD |
|
|
CA9243016 rs374767100 |
749 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404366466 rs1467455244 |
752 | W>R | No |
ClinGen TOPMed |
|
|
rs749501569 CA9243017 |
755 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9243019 rs774671704 |
756 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9243020 COSM991748 rs762048582 |
756 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs1435160836 CA404366617 |
757 | T>I | No |
ClinGen gnomAD |
|
|
rs773535487 CA9243022 |
763 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs761250990 CA9243023 |
763 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404366867 rs1464592497 |
764 | M>I | No |
ClinGen gnomAD |
|
|
rs1326038098 CA404366920 |
765 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs752311241 CA9243025 |
768 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404367036 rs1258431161 |
768 | Q>R | No |
ClinGen TOPMed |
|
|
CA404367186 rs372292857 |
771 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9243026 rs372292857 |
771 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1390858 CA404367257 rs1342951347 |
773 | P>S | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9243027 rs763878292 |
774 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315019108 CA404367309 |
774 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 775 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751255612 CA9243028 |
775 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404367422 rs1273915391 |
778 | C>Y | No |
ClinGen gnomAD |
|
|
rs376829447 CA9243031 |
782 | H>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9243032 rs781050746 |
785 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 786 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs572429286 CA404367748 |
786 | E>K | No |
ClinGen 1000Genomes TOPMed |
|
|
CA305585064 rs572429286 |
786 | E>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
CA9243034 rs750257502 |
787 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780087615 CA9243036 |
788 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 789 | Y>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 790 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 790 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162271121 CA404367927 |
791 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs369548377 CA305585070 |
792 | V>L | No |
ClinGen ESP TOPMed |
|
|
CA404367995 rs1300464937 |
794 | D>G | No |
ClinGen gnomAD |
|
|
CA404368014 rs1441442495 |
795 | A>S | No |
ClinGen TOPMed |
|
|
CA9243038 rs768758572 |
795 | A>V | Variant assessed as Somatic; 7.242e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1323574103 CA404368065 |
796 | A>E | No |
ClinGen gnomAD |
|
|
rs1323574103 CA404368074 |
796 | A>V | No |
ClinGen gnomAD |
|
|
CA404368094 rs1265018724 |
797 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs772259206 CA404368105 |
798 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9243041 rs772259206 |
798 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs761075727 CA9243043 |
799 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA404368163 rs1188564641 |
800 | L>V | No |
ClinGen gnomAD |
|
|
CA404368195 rs1421485735 |
801 | G>D | No |
ClinGen gnomAD |
|
|
rs531583190 CA9243044 |
801 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775107059 CA404368213 |
802 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 802 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9243047 rs763719971 |
803 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs762511371 CA9243046 |
803 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA404368316 rs1419544972 |
805 | L>H | No |
ClinGen gnomAD |
|
|
CA9243049 rs761528902 |
810 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA404368475 rs1385387471 |
812 | M>V | No |
ClinGen TOPMed |
|
|
rs543696044 CA9243051 |
813 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1312128478 CA404368516 |
813 | E>Q | No |
ClinGen gnomAD |
|
|
CA404368551 rs1599621904 |
814 | H>P | No |
ClinGen Ensembl |
|
|
CA9243053 rs565047636 COSM991750 |
815 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9243052 rs565047636 |
815 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9243054 rs753798857 |
816 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9243056 rs779056101 |
818 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779056101 CA404368643 |
818 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305585103 rs915011373 |
818 | P>S | No |
ClinGen Ensembl |
|
|
CA9243058 rs532104766 |
820 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9243059 rs532104766 |
820 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748315938 CA9243057 |
820 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs747438860 CA9243060 |
821 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs771452644 CA9243061 |
822 | Y>H | No |
ClinGen ExAC |
|
|
CA9243062 rs777228534 |
823 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1361360684 CA404368787 |
825 | A>V | No |
ClinGen gnomAD |
|
|
rs773975477 CA9243065 |
826 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1405168849 CA404368866 |
828 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1197917346 CA404368871 |
829 | L>M | No |
ClinGen TOPMed |
|
|
rs1449166812 CA404368902 |
830 | A>V | No |
ClinGen gnomAD |
|
|
CA9243068 rs750077515 |
831 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs760416742 CA9243069 |
832 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1303160753 CA404368937 |
833 | S>G | No |
ClinGen gnomAD |
|
|
CA404368971 rs1310268748 COSM3822078 |
835 | A>T | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1209293021 CA404369044 |
838 | Q>R | No |
ClinGen gnomAD |
|
|
rs753708740 CA9243072 |
839 | D>G | No |
ClinGen ExAC |
|
|
CA9243070 rs766179498 |
839 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA404369166 rs1488075342 |
841 | H>Y | No |
ClinGen TOPMed |
|
|
rs1196222963 CA404369222 |
842 | P>L | No |
ClinGen gnomAD |
|
|
CA305585143 rs371144573 |
842 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA404369251 rs1237115293 |
843 | A>V | No |
ClinGen gnomAD |
|
|
rs754976474 CA9243073 |
844 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1046841606 CA305585152 |
845 | N>D | No |
ClinGen TOPMed |
|
|
rs765220031 CA9243074 |
846 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424992300 CA404369358 |
847 | V>M | No |
ClinGen gnomAD |
|
|
CA404369434 rs1333151218 |
849 | W>* | No |
ClinGen TOPMed |
|
|
CA9243076 rs752872409 |
850 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404369556 rs1568348728 |
852 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 852 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs890974445 CA305585160 |
853 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs890974445 CA404369561 |
853 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404369576 rs1437426516 |
854 | S>G | No |
ClinGen gnomAD |
|
|
CA9243078 rs778015724 |
855 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1218487077 CA404369699 |
857 | L>M | No |
ClinGen gnomAD |
|
|
rs559333522 CA9243079 |
859 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404369758 rs1256847559 |
860 | H>N | No |
ClinGen gnomAD |
|
|
rs781690262 CA9243081 |
860 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9243080 rs757637856 |
860 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA9243082 rs529730429 |
862 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1487679077 CA404369917 |
864 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs770387382 CA404369947 |
865 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404369995 rs1264482596 |
866 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1169221478 CA404370037 |
867 | P>R | No |
ClinGen gnomAD |
|
|
rs771508697 CA9243086 |
868 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376511239 CA305585182 |
870 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404370212 rs1171885744 |
871 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1167159974 CA404370220 |
871 | R>H | No |
ClinGen gnomAD |
|
|
CA9243088 rs760328865 |
873 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA404370266 rs1379204358 |
873 | I>V | No |
ClinGen TOPMed |
|
|
rs766162592 CA9243089 |
874 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA404370358 rs1398037579 |
875 | C>Y | No |
ClinGen gnomAD |
|
|
CA404370389 rs1599622289 |
876 | A>V | No |
ClinGen Ensembl |
|
|
CA9243091 rs759449847 |
877 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9243090 rs776471224 |
877 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs998118741 CA305585209 |
878 | M>T | No |
ClinGen gnomAD |
|
|
rs1287227100 CA404370417 |
878 | M>V | No |
ClinGen gnomAD |
|
|
rs1489496774 CA404370516 |
881 | D>N | No |
ClinGen gnomAD |
|
|
CA9243095 rs373693881 |
882 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404370646 rs1568348940 |
884 | R>C | No |
ClinGen Ensembl |
|
|
CA9243097 rs571371851 |
884 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404370657 rs571371851 |
884 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183675253 CA404370712 |
885 | R>L | No |
ClinGen gnomAD |
|
|
CA404370733 rs1199286488 |
886 | W>R | No |
ClinGen TOPMed |
|
|
CA9243099 rs781679201 |
887 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 889 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9243100 rs377500679 |
889 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1362215928 CA404370820 |
890 | A>T | No |
ClinGen gnomAD |
|
|
CA9243101 rs756468122 |
890 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404370873 rs1341003039 |
891 | P>L | No |
ClinGen gnomAD |
|
|
CA404370893 rs1377869543 |
892 | G>A | No |
ClinGen gnomAD |
|
|
rs771544136 CA9243104 |
892 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9243105 rs772780617 |
893 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311080681 CA404370915 |
894 | G>S | No |
ClinGen gnomAD |
|
|
CA404370948 rs1356273885 |
895 | P>L | No |
ClinGen gnomAD |
|
|
CA404371026 rs1443528275 |
897 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1404264357 CA404371032 |
898 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9243107 rs770621445 |
898 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776380959 CA9243108 |
899 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776380959 CA305585274 |
899 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9243109 rs759332388 |
900 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA404371093 rs1444159612 |
900 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA404371110 rs1599622503 |
901 | A>S | No |
ClinGen Ensembl |
|
|
rs998902460 CA305585280 |
901 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9243115 rs764230052 |
908 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9243114 rs764230052 |
908 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9243116 rs538055965 |
909 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404371346 rs1358065000 |
909 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9243118 rs201791169 |
911 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9243117 rs767809826 |
911 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA404371421 rs1279360568 |
913 | C>Y | No |
ClinGen gnomAD |
|
|
rs981642727 CA305585306 |
914 | Q>R | No |
ClinGen Ensembl |
|
|
rs138968128 CA9243120 |
917 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138968128 CA305585311 |
917 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755499532 CA9243122 |
918 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1456687087 CA404371574 |
918 | A>V | No |
ClinGen TOPMed |
|
|
CA305585319 rs866586639 |
919 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770457540 CA9243125 |
919 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs780771303 CA9243126 |
920 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA305585327 rs988213507 |
921 | T>I | No |
ClinGen Ensembl |
|
|
CA305585325 rs984616721 |
921 | T>P | No |
ClinGen Ensembl |
|
|
rs1377955899 CA404371736 |
922 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1478923872 CA404371773 |
923 | Y>* | No |
ClinGen gnomAD |
|
|
rs973647147 CA305585334 |
925 | T>I | No |
ClinGen TOPMed |
|
|
CA9243127 rs745516457 |
925 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs200315864 CA404371844 |
926 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9243129 rs775214843 |
926 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs200315864 CA9243128 |
926 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305585341 rs375050232 |
928 | H>Y | No |
ClinGen TOPMed |
|
|
rs762933473 CA9243130 |
930 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1390438854 CA404371993 |
930 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs768762192 CA9243131 |
932 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404372062 rs1439068113 |
933 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1323494336 CA404372100 |
934 | I>N | No |
ClinGen gnomAD |
|
|
CA9243132 rs774538806 |
935 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA9243133 rs761936907 |
936 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs767719838 CA9243134 |
937 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305585351 rs919624665 COSM379175 |
937 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 937 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404372207 rs1196484245 |
939 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs766757487 CA9243137 |
944 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754207639 CA9243138 |
945 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9243139 rs755482882 |
947 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA9243140 rs779356059 |
949 | A>T | No |
ClinGen ExAC |
|
|
CA404372361 rs1392437077 |
950 | R>Q | No |
ClinGen gnomAD |
|
|
rs753222350 CA9243141 |
950 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 955 | L>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404372448 rs1472952237 |
956 | A>S | No |
ClinGen gnomAD |
|
|
rs149425260 CA9243142 |
956 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9243143 rs368062238 |
957 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404372492 rs1051013777 |
958 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs769389486 CA9243145 |
958 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA305585407 rs769389486 |
958 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs369225205 CA9243146 |
959 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404372505 rs1207794030 |
960 | H>N | No |
ClinGen gnomAD |
|
|
rs1039568441 CA305585424 |
962 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs768596568 CA9243148 |
962 | Q>K | No |
ClinGen ExAC |
|
|
CA305585429 rs868748200 |
965 | Q>H | No |
ClinGen Ensembl |
|
|
CA404372720 rs1456047977 |
969 | N>K | No |
ClinGen gnomAD |
|
|
CA9243152 rs368271855 |
969 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA404372740 rs1162582377 |
970 | L>P | No |
ClinGen gnomAD |
|
|
rs539349174 CA9243153 |
971 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9243154 rs766552739 |
972 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9243155 rs776946679 |
972 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332321197 CA404372799 |
973 | T>I | No |
ClinGen gnomAD |
|
|
rs898558269 CA305585450 |
973 | T>S | No |
ClinGen TOPMed |
|
|
CA404372852 rs1158109249 |
976 | G>R | No |
ClinGen TOPMed |
|
|
CA9243159 rs372875677 |
981 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 983 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404372980 rs1314708319 |
985 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1477877067 CA404372978 |
985 | R>W | No |
ClinGen TOPMed |
|
|
rs767000020 CA9243161 |
986 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9243162 rs181751370 |
987 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
No associated diseases with Q9H7M6
1 regional properties for Q9H7M6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, SWIM-type | 139 - 176 | IPR007527 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| Cul2-RING ubiquitin ligase complex | A ubiquitin ligase complex in which a cullin from the Cul2 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by an elongin-BC adaptor and a SOCS/BC box protein. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| zinc ion binding | Binding to a zinc ion (Zn). |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9HCJ5 | ZSWIM6 | Zinc finger SWIM domain-containing protein 6 | Homo sapiens (Human) | PR |
| Q80TC6 | Zswim5 | Zinc finger SWIM domain-containing protein 5 | Mus musculus (Mouse) | PR |
| Q8C7B8 | Zswim4 | Zinc finger SWIM domain-containing protein 4 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEPPAAKRSR | GCPAGPEERD | AGAGAARGRG | RPEALLDLSA | KRVAESWAFE | QVEERFSRVP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EPVQKRIVFW | SFPRSEREIC | MYSSLGYPPP | EGEHDARVPF | TRGLHLLQSG | AVDRVLQVGF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HLSGNIREPG | SPGEPERLYH | VSISFDRCKI | TSVSCGCDNR | DLFYCAHVVA | LSLYRIRHAH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QVELRLPISE | TLSQMNRDQL | QKFVQYLISA | HHTEVLPTAQ | RLADEILLLG | SEINLVNGAP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DPTAGAGIED | ANCWHLDEEQ | IQEQVKQLLS | NGGYYGASQQ | LRSMFSKVRE | MLRMRDSNGA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RMLILMTEQF | LQDTRLALWR | QQGAGMTDKC | RQLWDELGAL | WVCVVLSPHC | KPEERAGWLQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LLSRWDKLDV | CPLEEGNYSF | DGPSLQPTMA | PAPELLQKGS | TCITNTEGWV | GHPLDPIGCL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CRALLEACRL | EEETLTLYPD | SGPEKRKVAY | QHVPVPGSPG | ESYLVLALEV | ALLGLGQQRA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LPEGLYAQDK | VVRNEEQLLA | LLEEVELDER | LVQVLRKQAG | LLLEGGPFSG | FGEVLFRESV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PMHTCARYLF | TALLPHDPDL | AYRLALRAMR | LPILETAFPA | GEPHPSPLDS | IMSNRFPRWF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ILGHLETRQC | ELASTMLTAA | KGDPKWLHTV | LGSIQQNIHS | PALLFKLAQD | ACKTATPVSA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PPDTTLLGIA | LELGLQVMRM | TLNVMTWRRR | EMVRWLVSCA | TEIGPQALMN | IMQNWYSLFT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PVEAATIVAV | TGTTHATLLR | LQLDTSRREE | LWACARTLAL | QCAMKDPQNC | ALPALTLCEK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NHSAFEAAYQ | IVLDAAAGGL | GHAHLFTVAR | YMEHRGLPLR | AYKLATLALA | QLSIAFNQDS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| HPAVNDVLWA | CSLSHSLGRH | ELSAIVPLII | RSIHCAPMLS | DILRRWTLSA | PGLGPLGARR |
| 910 | 920 | 930 | 940 | 950 | 960 |
| AAKPLGADRA | PLCQLLDAAV | TAYITTSHSR | LTHISPRHYG | DFIEFLGKAR | ETFLLAPDGH |
| 970 | 980 | ||||
| LQFSQFLENL | KQTYKGKKKL | MLLVRERFG |