Q9H8H0
PR
Gene name |
NOL11 (L14) |
Protein name |
Nucleolar protein 11 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:25926 |
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 Q9H8H0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H8H0-F1 | Predicted | AlphaFoldDB |
551 variants for Q9H8H0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA400709120 rs1284414054 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA400709126 rs1190567859 |
3 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA293230814 rs776362026 |
3 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776362026 CA400709123 |
3 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776362026 CA8724256 |
3 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400709125 rs1190567859 |
3 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1423959903 CA400709129 |
4 | L>M | No |
ClinGen TOPMed |
|
|
CA8724257 rs761231053 |
4 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs568983818 CA293230821 |
5 | E>D | No |
ClinGen gnomAD |
|
|
CA400709144 rs1599031774 |
5 | E>G | No |
ClinGen Ensembl |
|
|
CA400709137 rs1174697703 |
5 | E>K | No |
ClinGen gnomAD |
|
|
rs201563517 CA8724260 |
6 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749883787 CA8724259 |
6 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764864587 CA8724258 |
6 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA293230857 rs751950512 |
7 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755285061 CA8724263 |
7 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA8724262 rs751950512 |
7 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781400042 CA8724264 |
9 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8724267 rs539405439 |
10 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8724269 rs113707516 |
11 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8724268 rs749301109 |
11 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA8724270 rs780093176 |
12 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA8724272 rs141463954 |
13 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8724271 rs746816407 |
13 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8724273 rs371883601 |
14 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8724274 rs761580184 |
16 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 16 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376587257 CA8724276 |
18 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1364926442 CA400709279 |
19 | P>S | No |
ClinGen gnomAD |
|
|
CA400709281 rs1364926442 |
19 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766667345 CA8724277 |
22 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8724279 rs751999152 |
25 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs760034370 CA8724280 |
26 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs995983307 CA293230952 |
26 | E>D | No |
ClinGen gnomAD |
|
|
rs767928181 CA8724281 |
27 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1365218799 CA400709377 |
28 | S>N | No |
ClinGen gnomAD |
|
|
rs756402300 CA8724283 |
30 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318692671 CA400709415 |
31 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA400709428 rs1225970197 |
32 | D>E | No |
ClinGen gnomAD |
|
|
CA400709486 rs1434315712 |
38 | D>Y | No |
ClinGen gnomAD |
|
|
CA400709502 rs1266954949 |
39 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 42 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400709551 rs1599031953 |
43 | V>G | No |
ClinGen Ensembl |
|
|
COSM1217554 rs764187534 CA8724284 |
47 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs911630368 CA293230978 |
47 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs775805724 CA8724320 |
51 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA400709885 rs1472550220 |
51 | Q>L | No |
ClinGen gnomAD |
|
|
rs764429218 CA8724322 |
53 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA8724321 rs761108147 |
53 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8724323 rs150840596 |
56 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762171664 CA8724324 |
57 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA8724325 rs765521808 |
59 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs922441234 CA293232069 |
61 | Q>R | No |
ClinGen Ensembl |
|
|
CA8724326 rs750560995 |
62 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400709954 rs1358066546 |
62 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 63 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8724327 rs201484850 |
63 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 64 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400709979 rs767501692 |
65 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1362609870 CA400709973 |
65 | I>V | No |
ClinGen gnomAD |
|
|
rs1297342099 CA400709983 |
66 | T>K | No |
ClinGen gnomAD |
|
|
CA400709987 rs1307988424 |
67 | C>R | No |
ClinGen TOPMed |
|
|
CA293232096 rs888157785 |
68 | P>L | No |
ClinGen TOPMed |
|
|
CA400710005 rs1371439499 |
70 | V>M | No |
ClinGen TOPMed |
|
|
rs199617298 CA293232097 |
71 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8724331 rs756066556 |
72 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8724330 rs756066556 |
72 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400710039 rs1369562965 |
74 | Q>H | No |
ClinGen gnomAD |
|
|
rs753599497 CA8724332 |
76 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216620439 CA400710054 |
77 | E>A | No |
ClinGen gnomAD |
|
|
CA8724334 rs369265180 |
78 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs914029392 CA293232133 |
80 | V>A | No |
ClinGen TOPMed |
|
|
CA293232185 rs781637935 |
83 | D>G | No |
ClinGen Ensembl |
|
|
rs563756333 CA8724337 |
83 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747525110 CA8724338 |
84 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1424433880 CA400710105 |
85 | K>E | No |
ClinGen gnomAD |
|
|
CA8724358 rs781745657 |
86 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227916369 CA400710148 |
89 | I>M | No |
ClinGen gnomAD |
|
|
CA293232271 rs1013343356 |
91 | N>T | No |
ClinGen TOPMed |
|
|
CA8724360 COSM1563699 rs547266367 |
94 | D>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs547266367 CA8724359 |
94 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773706586 CA8724361 |
95 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs368087259 CA8724362 |
96 | N>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA293232287 rs922478335 |
98 | D>E | No |
ClinGen Ensembl |
|
|
CA293232286 rs1002024664 |
98 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA293232290 rs932588695 |
99 | K>R | No |
ClinGen Ensembl |
|
|
CA8724363 rs771153752 |
100 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA400710217 rs771153752 |
100 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs758022549 CA8724373 |
109 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1407104876 CA400710307 |
109 | V>I | No |
ClinGen TOPMed |
|
|
CA400710321 rs1207067386 |
110 | Y>C | No |
ClinGen gnomAD |
|
|
rs751051311 CA8724375 |
111 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA400710330 rs751051311 |
111 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs754451999 CA8724376 |
112 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8724379 rs2291284 VAR_051237 |
115 | V>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA400710368 rs2291284 |
115 | V>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8724377 rs568124045 CA8724378 |
115 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400710372 rs1186356423 |
116 | Q>K | No |
ClinGen gnomAD |
|
|
CA8724380 rs781770292 |
116 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA8724381 rs781770292 |
116 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8724382 rs372828201 |
117 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8724384 rs745943352 |
120 | P>L | No |
ClinGen ExAC |
|
|
CA8724383 rs774578419 |
120 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs200900858 CA8724385 |
125 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8724386 rs775537313 |
126 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA8724387 rs761784192 |
128 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1404404798 CA400710506 |
128 | A>V | No |
ClinGen gnomAD |
|
|
rs1394415208 CA400710511 |
129 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1333699955 CA400710520 |
130 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA400710522 rs1221694183 |
130 | R>H | No |
ClinGen TOPMed |
|
|
rs765125216 CA8724388 |
131 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA400710534 rs1452765611 |
131 | G>V | No |
ClinGen TOPMed |
|
|
CA8724389 rs773020702 |
134 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8724390 rs762757088 |
135 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8724392 rs765960691 |
138 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400710621 rs1234922936 |
139 | P>L | No |
ClinGen gnomAD |
|
|
rs1599034556 CA400710615 |
139 | P>S | No |
ClinGen Ensembl |
|
|
rs754583272 CA8724393 |
140 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs767192630 CA8724394 |
141 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400710659 rs1394417359 |
142 | K>N | No |
ClinGen gnomAD |
|
|
CA293233341 rs897855395 |
143 | I>M | No |
ClinGen TOPMed |
|
|
CA8724395 rs569306959 |
143 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1261947036 CA400710675 |
144 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 145 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA293233345 rs867599412 |
147 | I>V | No |
ClinGen gnomAD |
|
|
rs866296665 CA293233350 |
148 | S>F | No |
ClinGen Ensembl |
|
|
rs1460392226 CA400710731 |
149 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA293233355 rs759943085 |
150 | E>K | No |
ClinGen Ensembl |
|
|
rs551382228 CA8724412 |
155 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8724413 rs770824573 |
156 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs774003532 CA8724414 |
157 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400711095 rs1458919052 |
157 | K>R | No |
ClinGen gnomAD |
|
|
CA8724417 rs752280263 |
160 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA8724416 rs560574115 |
160 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400711142 rs1365334253 |
161 | V>L | No |
ClinGen gnomAD |
|
|
CA8724420 rs115566040 |
170 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400711266 rs1161020728 |
172 | E>A | No |
ClinGen TOPMed |
|
|
CA8724422 rs779386627 |
173 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287279671 CA400711282 |
173 | K>R | No |
ClinGen gnomAD |
|
|
rs538687883 CA8724443 |
174 | H>Q | No |
ClinGen 1000Genomes ExAC |
|
|
CA8724444 rs199980069 |
175 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400711544 rs1483657605 |
177 | Y>C | No |
ClinGen gnomAD |
|
|
rs907633828 CA293235182 |
179 | A>S | No |
ClinGen Ensembl |
|
|
CA400711571 rs1209745874 |
181 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA400711570 rs757607541 |
181 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757607541 CA8724448 |
181 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400711584 rs1391880712 |
183 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA293235193 rs542557138 |
184 | F>C | No |
ClinGen 1000Genomes |
|
|
rs758701777 CA8724449 |
185 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs751845847 CA8724452 |
187 | R>C | Variant assessed as Somatic; 5.019e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8724451 rs751845847 |
187 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8724453 rs781381476 |
187 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA400711618 rs1441315938 |
188 | I>T | No |
ClinGen TOPMed |
|
|
rs1378027848 CA400711615 |
188 | I>V | No |
ClinGen gnomAD |
|
|
rs374592574 CA8724455 |
190 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1404664493 CA400711645 |
192 | Y>C | No |
ClinGen TOPMed |
|
|
CA400711653 rs1344826677 |
193 | T>R | No |
ClinGen gnomAD |
|
|
rs144436026 CA293235248 |
195 | L>F | No |
ClinGen ESP |
|
| TCGA novel | 197 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8724460 rs148391618 |
197 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775414046 CA8724459 |
197 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA400711682 rs1194684847 |
198 | Q>R | No |
ClinGen TOPMed |
|
|
CA8724462 rs377003215 COSM296023 |
199 | D>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs761175726 CA8724463 |
200 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 202 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8724466 rs773638848 |
204 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8724464 rs201070916 |
204 | I>T | No |
ClinGen 1000Genomes ExAC |
|
|
rs1353381494 CA400711724 |
205 | K>Q | No |
ClinGen gnomAD |
|
|
rs1447480306 CA400711744 |
207 | F>S | No |
ClinGen gnomAD |
|
|
rs763444418 CA400711755 |
209 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs763444418 CA8724467 |
209 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8724469 rs751899070 |
210 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA293235315 rs142511230 |
211 | V>I | No |
ClinGen ESP |
|
|
CA8724472 rs200539767 |
212 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400711769 rs767586061 |
212 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8724471 rs767586061 |
212 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8724474 rs777905751 |
213 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202096165 CA8724473 |
213 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs150949358 CA293235337 |
216 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA400711812 rs1567799640 |
218 | L>F | No |
ClinGen Ensembl |
|
|
rs1238439782 CA400711819 |
219 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs745860879 CA8724475 |
219 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400711822 rs1368925049 |
220 | S>P | No |
ClinGen gnomAD |
|
|
CA8724496 rs780086951 |
226 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400712020 rs780086951 |
226 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400712019 rs780086951 |
226 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472610739 CA400712028 |
227 | I>M | No |
ClinGen gnomAD |
|
|
rs140784968 CA8724497 |
227 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8724498 rs754659334 |
228 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs781034394 CA8724500 |
230 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs747810985 CA8724501 |
232 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769464386 CA8724502 |
233 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 233 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400712073 rs1301788049 |
234 | I>M | No |
ClinGen gnomAD |
|
|
rs1407489593 CA400712068 |
234 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs545577983 CA8724503 |
235 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400712075 rs545577983 |
235 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748756964 CA8724504 |
235 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748756964 CA8724505 COSM1189543 |
235 | R>P | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1309947703 CA400712082 |
236 | P>L | No |
ClinGen gnomAD |
|
|
rs1238594921 CA400712096 |
238 | D>E | No |
ClinGen gnomAD |
|
|
CA400712094 rs1348768419 |
238 | D>V | No |
ClinGen gnomAD |
|
|
CA400712098 rs1285045462 |
239 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1290861162 CA400712128 |
243 | Q>E | No |
ClinGen gnomAD |
|
|
CA8724508 rs760085730 |
244 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA400712139 rs1248983640 |
244 | S>I | No |
ClinGen gnomAD |
|
|
CA8724510 rs775903510 |
246 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 248 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268959016 CA400712175 |
250 | L>R | No |
ClinGen TOPMed |
|
|
rs945416940 CA293236928 |
251 | L>H | No |
ClinGen TOPMed |
|
|
CA293236929 rs1042393243 |
253 | A>S | No |
ClinGen TOPMed |
|
|
CA8724513 rs753997488 |
254 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8724514 rs761922405 |
255 | V>G | No |
ClinGen ExAC |
|
|
CA400712201 CA400712202 rs1172652141 |
255 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8724515 rs766419937 |
257 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1303301232 CA400712227 |
259 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs754927005 CA8724518 |
259 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA8724517 rs754927005 |
259 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1335044465 CA400712229 |
260 | R>G | No |
ClinGen gnomAD |
|
|
COSM3421810 rs116640209 CA8724519 |
260 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 261 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400712237 rs1346296530 |
261 | N>S | No |
ClinGen TOPMed |
|
|
rs755793736 CA8724520 |
262 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8724521 rs777356149 |
263 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1342695789 CA400712256 |
264 | A>V | No |
ClinGen gnomAD |
|
|
rs76234567 CA8724522 RCV000947854 |
265 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA400712272 rs1365138754 |
267 | A>V | No |
ClinGen TOPMed |
|
|
rs1272455114 CA400712280 |
269 | D>Y | No |
ClinGen gnomAD |
|
|
CA8724523 rs546946265 |
270 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546946265 CA293236970 |
270 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778382967 CA8724524 |
271 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA400712300 rs1440347575 |
272 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA400712302 rs1440347575 |
272 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs775752641 CA400712309 |
273 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs775752641 CA8724527 |
273 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs769009390 CA8724529 COSM983268 |
274 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1173249123 CA400712332 |
277 | G>E | No |
ClinGen gnomAD |
|
|
CA400712335 rs1468428390 |
278 | S>C | No |
ClinGen gnomAD |
|
|
CA400712339 rs1336369674 |
278 | S>I | No |
ClinGen gnomAD |
|
|
CA8724531 rs762118843 |
279 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA400712355 rs1200905271 |
281 | A>E | No |
ClinGen TOPMed |
|
|
CA8724533 rs750492735 |
281 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176521215 CA400698042 |
285 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs138092948 CA8724555 |
286 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8724557 rs760594321 COSM1710672 |
287 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8724559 CA293222669 rs753601468 |
289 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs899298002 CA293222688 |
296 | T>R | No |
ClinGen Ensembl |
|
|
rs749918715 CA400698494 |
299 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs749918715 CA8724563 |
299 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA8724562 rs749918715 |
299 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA400698504 rs1470476149 |
300 | S>A | No |
ClinGen TOPMed |
|
|
rs1295169140 CA400698518 |
300 | S>L | No |
ClinGen gnomAD |
|
|
CA400698561 rs1408971259 |
302 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 304 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400698653 rs1308097181 |
305 | Q>R | No |
ClinGen gnomAD |
|
|
rs372938548 CA8724568 |
307 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400698713 rs372938548 |
307 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8724569 rs201381442 |
308 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA293222740 rs199677357 |
310 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781746658 CA8724586 |
311 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400699803 rs1245848160 COSM1385405 |
314 | Y>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA8724590 rs777986267 |
315 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs756434791 CA8724588 |
315 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8724589 rs777986267 |
315 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs771026427 CA8724591 |
316 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400699833 rs1483709043 |
317 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 319 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768591011 CA8724594 |
322 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 324 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400699970 rs1389332658 |
325 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 326 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776480478 CA8724595 |
326 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1406691168 CA400700059 |
331 | Y>* | No |
ClinGen TOPMed |
|
|
rs761656261 CA8724596 |
331 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172581398 CA400700066 |
332 | K>E | No |
ClinGen TOPMed |
|
|
CA400700091 rs1334334530 |
333 | C>G | No |
ClinGen gnomAD |
|
|
rs1381013346 CA400700095 |
333 | C>Y | No |
ClinGen gnomAD |
|
|
rs376874619 CA8724598 |
334 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA400700108 rs1452402608 |
334 | E>K | No |
ClinGen gnomAD |
|
|
rs1465662513 CA400700231 |
340 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 340 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400700251 rs1312890662 |
341 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA293223680 rs974950969 |
344 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs974950969 CA400700288 |
344 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1220962418 CA400700361 |
349 | Q>P | No |
ClinGen TOPMed |
|
|
rs768143420 CA8724603 |
351 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA400700466 rs1208364921 |
354 | H>Q | No |
ClinGen TOPMed |
|
|
rs1257227369 CA400700463 |
354 | H>R | No |
ClinGen TOPMed |
|
|
rs1323103969 CA400700460 |
354 | H>Y | No |
ClinGen gnomAD |
|
|
rs770722856 CA8724619 |
355 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs770722856 CA400700467 |
355 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8724621 rs142890724 |
356 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774830500 CA8724623 |
358 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1325233526 CA400700488 |
358 | H>R | No |
ClinGen TOPMed |
|
|
rs1231006617 CA400700484 |
358 | H>Y | No |
ClinGen TOPMed |
|
|
CA293224182 rs182958630 |
359 | F>L | No |
ClinGen 1000Genomes |
|
|
CA400700503 rs1490686647 |
360 | V>G | No |
ClinGen gnomAD |
|
|
rs1472706556 CA400700569 |
365 | P>L | No |
ClinGen gnomAD |
|
|
rs1428095109 CA400700563 |
365 | P>S | No |
ClinGen gnomAD |
|
|
CA8724624 rs761273776 |
368 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1399343267 CA400700597 |
368 | C>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 370 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567804351 CA400700618 |
370 | L>P | No |
ClinGen Ensembl |
|
|
rs1221801802 CA400700628 |
371 | G>A | No |
ClinGen gnomAD |
|
|
rs199611919 CA8724625 |
374 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8724627 rs192561539 |
375 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8724626 rs146115629 |
375 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs866658867 CA293224194 |
379 | R>K | No |
ClinGen Ensembl |
|
|
rs138983162 CA293224199 |
380 | R>I | No |
ClinGen ESP gnomAD |
|
|
rs138983162 CA400700730 |
380 | R>K | No |
ClinGen ESP gnomAD |
|
|
rs1424119473 CA400700744 |
381 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 382 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368061961 CA8724647 |
384 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs765643177 CA8724648 |
384 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1217553 CA8724649 rs750759556 |
385 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 385 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400700819 rs1197038288 |
385 | R>Q | No |
ClinGen gnomAD |
|
|
rs758654424 CA8724650 |
386 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA400700839 rs1428971469 |
387 | I>L | No |
ClinGen gnomAD |
|
|
CA8724652 rs751675054 |
389 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs766541940 CA8724651 |
389 | V>M | No |
ClinGen ExAC |
|
|
CA8724653 rs370528879 |
390 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400700890 rs1567804542 |
391 | L>* | No |
ClinGen Ensembl |
|
|
rs1446876712 CA400700901 |
392 | Q>* | No |
ClinGen gnomAD |
|
|
rs1372987270 CA400700939 |
395 | V>F | No |
ClinGen TOPMed |
|
|
CA400700963 rs1462504932 |
397 | P>R | No |
ClinGen gnomAD |
|
|
rs757229180 CA8724657 |
399 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA293224451 rs985064413 |
401 | L>V | No |
ClinGen Ensembl |
|
|
rs1394497331 CA400701000 |
402 | L>S | No |
ClinGen gnomAD |
|
|
rs1409603438 CA400701011 |
404 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1319745888 CA400701022 |
405 | I>M | No |
ClinGen TOPMed |
|
|
CA400701017 rs1337686577 |
405 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs199959325 CA293224455 |
406 | M>I | No |
ClinGen Ensembl |
|
|
CA8724675 rs752785068 |
407 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1202117035 CA400701064 |
410 | E>K | No |
ClinGen TOPMed |
|
|
CA293224688 rs1054062004 |
411 | K>* | No |
ClinGen Ensembl |
|
|
CA400701082 rs1320992113 |
412 | H>P | No |
ClinGen gnomAD |
|
|
rs375089506 CA8724676 |
413 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA293224713 rs375089506 |
413 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs914018372 CA293224703 |
413 | I>V | No |
ClinGen gnomAD |
|
|
rs1235036857 CA400701097 |
414 | E>D | No |
ClinGen TOPMed |
|
|
rs778934448 CA8724677 |
414 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8724678 rs750244318 |
415 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8724680 rs779882381 |
418 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758332756 CA8724679 |
418 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142174717 CA8724681 |
419 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8724682 rs768327714 |
420 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 421 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA293224735 rs1047024799 |
425 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA400701161 rs1047024799 |
425 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA400701174 rs1207492803 |
427 | P>A | No |
ClinGen Ensembl |
|
|
CA400701177 rs1176027309 |
427 | P>R | No |
ClinGen gnomAD |
|
|
CA293224737 rs11546851 |
428 | D>G | No |
ClinGen Ensembl |
|
|
rs1599046894 CA400701197 |
430 | H>P | No |
ClinGen Ensembl |
|
|
CA400701201 rs770302313 |
430 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400701205 rs1287011200 |
431 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8724687 rs763448323 |
433 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8724686 rs547196290 |
433 | I>T | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs868227935 CA400701222 |
434 | G>A | No |
ClinGen TOPMed |
|
|
rs868227935 CA293224749 |
434 | G>E | No |
ClinGen TOPMed |
|
|
CA8724688 rs771257686 |
435 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1403920192 CA400701235 |
436 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA293224757 rs1054036370 |
437 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA400701241 rs1054036370 |
437 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1011253058 CA293224762 |
440 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs759706997 CA8724690 |
442 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1239147562 CA400701264 |
442 | E>K | No |
ClinGen gnomAD |
|
|
CA8724691 rs767730280 |
443 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA293224777 rs1019935434 |
444 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs752836245 CA8724692 |
445 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1215556826 CA400701286 |
445 | K>T | No |
ClinGen TOPMed |
|
|
CA8724693 rs760769113 |
446 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1473119112 CA400701295 |
446 | A>V | No |
ClinGen gnomAD |
|
|
CA8724696 rs758329724 |
453 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8724695 rs150891541 |
453 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1318388580 CA400701358 |
456 | L>V | No |
ClinGen TOPMed |
|
|
rs779758236 CA8724697 |
457 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425219366 CA400701372 |
458 | Q>* | No |
ClinGen gnomAD |
|
|
rs773716694 CA293224805 |
459 | L>I | No |
ClinGen Ensembl |
|
|
CA400701388 rs1222831859 |
460 | I>S | No |
ClinGen TOPMed |
|
|
rs754612118 CA8724699 |
461 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA8724700 rs780769053 |
462 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139420664 CA8724703 |
463 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400701463 rs1228313926 |
470 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA400701470 rs1309377565 |
471 | P>T | No |
ClinGen gnomAD |
|
|
rs1041219889 CA293224989 |
472 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1461571955 CA400701503 |
475 | E>G | No |
ClinGen gnomAD |
|
|
rs766606404 CA293224995 |
476 | I>V | No |
ClinGen Ensembl |
|
|
CA400701554 rs1567804951 |
482 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 485 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187077461 CA400701580 |
486 | L>V | No |
ClinGen gnomAD |
|
|
rs1426237262 CA400701596 |
488 | L>F | No |
ClinGen gnomAD |
|
|
CA400701615 rs1339094001 |
491 | Q>* | No |
ClinGen gnomAD |
|
|
rs772541329 CA8724727 |
492 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs775972108 CA8724728 |
493 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1208248288 CA400701630 |
493 | F>Y | No |
ClinGen TOPMed |
|
|
rs1567805024 CA400701640 |
494 | P>L | No |
ClinGen Ensembl |
|
|
CA293225034 rs376282778 |
496 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA8724729 rs747270268 |
498 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8724730 rs764690858 |
499 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776877033 CA8724731 |
501 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1280553808 CA400702270 |
503 | A>G | No |
ClinGen gnomAD |
|
|
rs1441680795 CA400702344 |
507 | I>M | No |
ClinGen gnomAD |
|
|
rs189075538 CA8724732 |
507 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400702383 COSM1324887 rs766235239 CA8724733 COSM1521946 |
509 | L>F | lung ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA |
| TCGA novel | 510 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477867309 CA400702593 |
515 | S>G | No |
ClinGen gnomAD |
|
|
CA293225137 rs1001915136 |
515 | S>N | No |
ClinGen TOPMed |
|
|
CA8724749 rs149869108 COSM437196 |
516 | L>F | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA400702673 rs1336523883 |
519 | T>A | No |
ClinGen TOPMed |
|
|
CA400702714 rs1418373764 |
521 | V>D | No |
ClinGen gnomAD |
|
|
rs1158625200 CA400702735 |
522 | N>S | No |
ClinGen gnomAD |
|
|
rs748317987 CA8724750 |
523 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs150279090 CA8724751 |
524 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400702802 rs1392958056 |
525 | S>L | No |
ClinGen TOPMed |
|
|
rs1301450723 CA400702873 |
528 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 528 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs540705052 CA8724752 |
529 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1330656873 CA400702882 |
529 | Y>H | No |
ClinGen TOPMed |
|
|
rs771958121 CA8724754 |
531 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400702996 rs1370962758 |
533 | S>Y | No |
ClinGen gnomAD |
|
|
CA400703005 rs1162101661 |
534 | V>I | No |
ClinGen TOPMed |
|
|
rs1292443793 CA400703035 |
535 | H>R | No |
ClinGen gnomAD |
|
|
CA400703032 rs1239314830 |
535 | H>Y | No |
ClinGen gnomAD |
|
|
rs775277312 CA8724755 |
536 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA400703062 rs775277312 |
536 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8724756 rs760396053 |
537 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs143893275 CA8724757 |
538 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753584336 CA8724758 |
539 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA400703138 rs1183498795 |
540 | E>K | No |
ClinGen TOPMed |
|
|
rs761347492 CA8724759 |
541 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA8724760 rs764840042 |
542 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8724763 rs780653385 |
548 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs144354389 CA8724765 |
551 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA293225211 rs377520875 |
553 | E>K | No |
ClinGen ESP gnomAD |
|
|
rs781398729 CA8724766 |
554 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs769878659 CA8724769 |
555 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs748452029 CA8724767 |
555 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445814939 CA400703449 |
556 | K>E | No |
ClinGen gnomAD |
|
|
rs922747550 CA293225227 |
558 | N>S | No |
ClinGen Ensembl |
|
|
CA8724770 rs749307765 |
561 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs147822090 CA8724771 |
562 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1351447743 CA400703600 |
562 | Q>P | No |
ClinGen TOPMed |
|
|
CA400703623 rs1281516689 |
563 | E>G | No |
ClinGen TOPMed |
|
|
CA8724774 rs760592317 |
566 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs141291873 CA8724776 |
568 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8724779 rs764745161 |
571 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200082532 CA8724780 |
573 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8724782 rs201494014 |
575 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400703948 rs201494014 |
575 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400703957 rs1475797990 |
575 | S>R | No |
ClinGen gnomAD |
|
|
rs752173975 CA8724783 |
576 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA400703997 rs1464857843 |
577 | S>A | No |
ClinGen gnomAD |
|
|
rs1037066075 CA293225299 |
577 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8724784 rs755520246 |
578 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs867204903 CA293225305 |
579 | P>S | No |
ClinGen Ensembl |
|
|
CA400704073 rs1380141948 |
581 | V>I | No |
ClinGen TOPMed |
|
|
CA8724785 rs781650595 |
582 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA400704096 rs781650595 |
582 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 584 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456459887 CA400704144 |
584 | R>G | No |
ClinGen gnomAD |
|
|
CA293225308 rs758410982 |
584 | R>K | No |
ClinGen Ensembl |
|
|
rs752965842 CA8724786 |
585 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1194637995 CA400704200 |
586 | A>S | No |
ClinGen TOPMed |
|
|
rs377086049 CA8724789 |
587 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA400704250 rs1316904344 |
588 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs111806972 CA293225695 |
590 | A>V | No |
ClinGen Ensembl |
|
|
CA293225709 rs978297932 |
592 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA400704489 rs1231542526 |
593 | H>L | No |
ClinGen gnomAD |
|
|
rs760153881 CA8724801 |
593 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA400704563 rs1352014468 |
596 | Y>C | No |
ClinGen gnomAD |
|
|
rs1283943146 CA400704638 |
598 | E>K | No |
ClinGen gnomAD |
|
|
rs1488015779 CA400704736 |
601 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1385534356 CA400704818 |
604 | H>Q | No |
ClinGen TOPMed |
|
|
CA8724805 rs756500735 |
605 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197884659 CA400704867 |
606 | K>R | No |
ClinGen gnomAD |
|
|
rs1364232028 CA400704916 |
608 | I>V | No |
ClinGen gnomAD |
|
|
CA293225739 rs369079761 |
610 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369079761 CA8724807 |
610 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1259279 CA8724808 rs78812107 |
614 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs765383045 CA8724830 |
616 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA400705122 rs1376046704 |
617 | L>V | No |
ClinGen TOPMed |
|
|
rs750502902 CA8724831 |
620 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400705245 rs1196542804 |
627 | C>G | No |
ClinGen gnomAD |
|
|
CA293226139 rs1043773549 |
627 | C>S | No |
ClinGen TOPMed |
|
|
CA400705259 rs1237408400 |
628 | S>G | No |
ClinGen gnomAD |
|
|
rs1410968138 CA400705289 |
629 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8724833 rs575494083 |
629 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs756048119 CA400705320 |
632 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8724835 rs756048119 |
632 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs777235078 CA8724836 |
632 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400705334 rs1219799073 |
633 | M>V | No |
ClinGen TOPMed |
|
|
CA400705352 rs1567805782 |
634 | T>S | No |
ClinGen Ensembl |
|
|
CA400705363 rs1400076437 |
635 | L>F | No |
ClinGen gnomAD |
|
|
CA8724838 rs770722803 |
637 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs907387439 CA293226174 |
639 | H>Y | No |
ClinGen Ensembl |
|
|
CA400705423 rs1231929388 |
640 | P>T | No |
ClinGen TOPMed |
|
|
rs1340541150 CA400705462 |
643 | L>S | No |
ClinGen TOPMed |
|
|
rs745518843 CA8724840 |
644 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1220749760 CA400706493 |
646 | I>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753691480 CA8724859 |
649 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs369956349 CA8724861 |
650 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs896670396 CA293228873 |
651 | C>Y | No |
ClinGen Ensembl |
|
|
rs745547054 CA8724863 |
652 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432137072 CA400706539 |
653 | L>V | No |
ClinGen TOPMed |
|
|
CA8724865 rs779449337 |
655 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8724866 rs138167117 |
656 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400706578 rs1567807228 |
659 | T>N | No |
ClinGen Ensembl |
|
|
rs145032192 CA8724868 |
659 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8724869 rs374296971 |
660 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400706631 rs1362489311 |
667 | A>P | No |
ClinGen gnomAD |
|
|
CA8724870 rs770196074 |
669 | R>S | No |
ClinGen ExAC |
|
|
rs377685856 CA8724871 |
673 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1366408005 CA400706681 |
675 | Y>H | No |
ClinGen gnomAD |
|
|
CA400706690 rs1344250446 |
676 | K>Q | No |
ClinGen TOPMed |
|
|
CA400706719 rs1272310086 |
680 | S>F | No |
ClinGen TOPMed |
|
|
CA8724883 rs192947561 |
682 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs565913198 CA8724884 |
683 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 683 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400706772 rs1241937824 |
686 | S>C | No |
ClinGen TOPMed |
|
|
CA400706767 rs1266668794 |
686 | S>T | No |
ClinGen TOPMed |
|
|
CA293229065 rs201377381 |
687 | E>G | No |
ClinGen ESP TOPMed |
|
|
CA400706782 rs1315099697 |
688 | L>V | No |
ClinGen gnomAD |
|
|
CA400706792 rs754543968 CA8724886 |
689 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288744246 CA400706807 |
691 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1040324909 CA293229077 |
692 | E>G | No |
ClinGen TOPMed |
|
|
CA400706819 rs1567807354 |
693 | V>G | No |
ClinGen Ensembl |
|
|
rs780661064 CA8724887 |
693 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8724890 rs770251051 |
696 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8724889 rs748697836 |
696 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8724891 rs370393293 |
697 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138866532 CA293229124 |
699 | Q>* | No |
ClinGen ESP gnomAD |
|
|
CA8724893 rs775892220 |
699 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8724894 rs774703203 |
700 | K>Q | No |
ClinGen ExAC |
|
|
rs1261406863 CA400706873 |
702 | N>D | No |
ClinGen gnomAD |
|
|
rs767744271 CA400706875 |
702 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8724896 rs767744271 |
702 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201123173 CA8724897 |
704 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8724898 rs375576112 |
705 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA293229185 rs750624263 |
705 | K>N | No |
ClinGen gnomAD |
|
|
rs1257455439 CA400706904 |
706 | N>S | No |
ClinGen gnomAD |
|
|
CA8724899 rs765159351 |
707 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs750185926 CA8724900 |
709 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA8724901 rs758276703 |
712 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA8724902 rs142111850 |
713 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368470408 CA8724904 |
714 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1198526484 CA400706965 |
716 | L>M | No |
ClinGen gnomAD |
|
|
CA8724906 rs747612462 |
717 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8724905 rs780715925 |
717 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8724908 rs778277611 |
720 | F>C | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9H8H0
1 regional properties for Q9H8H0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Nucleolar protein 11 domain | 200 - 243 | IPR012584 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| t-UTP complex | A protein complex that forms a subcomplex of the 90S preribosome and is required for the subsequent assembly of the rest of the preribosome. In S. cerevisiae, it is composed of Utp5p, Utp4p, Nan1p, Utp8p, Utp9p, Utp10 and Utp15p. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| maturation of SSU-rRNA | Any process involved in the maturation of a precursor Small SubUnit (SSU) ribosomal RNA (rRNA) molecule into a mature SSU-rRNA molecule. |
| positive regulation of transcription of nucleolar large rRNA by RNA polymerase I | Any process that activates or increases the frequency, rate or extent of transcription of nuclear large rRNA mediated by RNA polymerase I. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAALEEEFTL | SSVVLSAGPE | GLLGVEQSDK | TDQFLVTDSG | RTVILYKVSD | QKPLGSWSVK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QGQIITCPAV | CNFQTGEYVV | VHDNKVLRIW | NNEDVNLDKV | FKATLSAEVY | RILSVQGTEP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LVLFKEGAVR | GLEALLADPQ | QKIETVISDE | EVIKWTKFFV | VFRHPVLIFI | TEKHGNYFAY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VQMFNSRILT | KYTLLLGQDE | NSVIKSFTAS | VDRKFISLMS | LSSDGCIYET | LIPIRPADPE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KNQSLVKSLL | LKAVVSGNAR | NGVALTALDQ | DHVAVLGSPL | AASKECLSVW | NIKFQTLQTS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KELPQGTSGQ | LWYYGEHLFM | LHGKSLTVIP | YKCEVSSLAG | ALGKLKHSQD | PGTHVVSHFV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NWETPQGCGL | GFQNSEQSRR | ILRRRKIEVS | LQPEVPPSKQ | LLSTIMKDSE | KHIEVEVRKF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LALKQTPDFH | TVIGDTVTGL | LERCKAEPSF | YPRNCLMQLI | QTHVLSYSLC | PDLMEIALKK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KDVQLLQLCL | QQFPDIPESV | TCACLKIFLS | IGDDSLQETD | VNMESVFDYS | INSVHDEKME |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EQTEILQNGF | NPEEDKCNNC | DQELNKKPQD | ETKESTSCPV | VQKRAALLNA | ILHSAYSETF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LLPHLKDIPA | QHITLFLKYL | YFLYLKCSEN | ATMTLPGIHP | PTLNQIMDWI | CLLLDANFTV |
| 670 | 680 | 690 | 700 | 710 | |
| VVMMPEAKRL | LINLYKLVKS | QISVYSELNK | IEVSFRELQK | LNQEKNNRGL | YSIEVLELF |