Q9NVR2
PR
Gene name |
INTS10 (C8orf35) |
Protein name |
Integrator complex subunit 10 |
Names |
Int10 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55174 |
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
4 structures for Q9NVR2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8RBX | EM | 410 A | j | 1-710 | PDB |
| 8RBZ | EM | 370 A | j | 1-710 | PDB |
| 8RC4 | EM | 310 A | j | 1-710 | PDB |
| AF-Q9NVR2-F1 | Predicted | AlphaFoldDB |
522 variants for Q9NVR2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA173351232 rs1032767946 |
2 | S>F | No |
ClinGen gnomAD |
|
|
CA370463601 rs1316511616 |
4 | Q>H | No |
ClinGen gnomAD |
|
|
rs1263310532 CA370463599 |
4 | Q>R | No |
ClinGen TOPMed |
|
|
CA4654509 rs755716124 |
5 | G>W | No |
ClinGen ExAC |
|
|
rs1563312184 CA370463611 |
6 | D>G | No |
ClinGen Ensembl |
|
|
CA4654511 rs749125875 |
6 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA370463608 rs749125875 |
6 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs749125875 CA370463609 |
6 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA173351237 rs375558268 |
7 | C>Y | No |
ClinGen ESP gnomAD |
|
|
rs770694838 CA4654512 |
8 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1213214299 CA370463622 |
8 | E>K | No |
ClinGen gnomAD |
|
|
CA370463644 rs1257702074 |
11 | V>G | No |
ClinGen TOPMed |
|
|
rs778968262 CA4654513 |
11 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4654514 rs745790080 |
12 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs772198430 CA4654515 |
15 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368214341 CA4654516 |
16 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761006930 CA370463681 |
17 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1457308316 CA370463680 |
17 | L>W | No |
ClinGen gnomAD |
|
|
rs1563312592 CA370463687 |
18 | V>A | No |
ClinGen Ensembl |
|
|
rs1438555077 CA370463693 |
19 | P>L | No |
ClinGen gnomAD |
|
|
CA370463689 rs1347993917 |
19 | P>S | No |
ClinGen gnomAD |
|
|
CA4654518 rs769038308 |
20 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1228117712 CA370463702 |
21 | D>N | No |
ClinGen TOPMed |
|
|
rs867753487 CA173351285 |
23 | W>R | No |
ClinGen Ensembl |
|
|
rs762321325 CA4654520 |
25 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589891199 CA370463735 |
26 | K>E | No |
ClinGen Ensembl |
|
|
rs372358551 CA4654521 |
26 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA173351298 rs2289510 |
26 | K>T | No |
ClinGen Ensembl |
|
|
rs1563313003 CA370463750 |
28 | W>* | No |
ClinGen Ensembl |
|
|
rs1323988776 CA370463761 |
30 | I>V | No |
ClinGen gnomAD |
|
|
rs1405707534 CA370463778 |
32 | A>V | No |
ClinGen Ensembl |
|
|
CA4654523 rs763308770 |
33 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1019805253 CA173351315 |
33 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4654524 rs767078694 |
34 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4654525 rs767078694 |
34 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201599025 CA4654526 |
35 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763789269 CA4654527 |
36 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA370463804 rs1165374926 |
37 | P>Q | No |
ClinGen gnomAD |
|
|
CA370463809 rs1427505479 |
38 | A>T | No |
ClinGen gnomAD |
|
|
rs1309634904 CA370463812 |
38 | A>V | No |
ClinGen gnomAD |
|
|
rs1414427521 CA370463825 |
40 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4654533 rs758226858 |
41 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369024500 CA173351372 |
41 | N>I | No |
ClinGen ESP TOPMed |
|
|
CA370463844 rs1299870057 |
43 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1343527734 CA370463848 |
43 | Q>H | No |
ClinGen gnomAD |
|
|
rs1250889734 CA370463846 |
43 | Q>L | No |
ClinGen TOPMed |
|
|
rs1258035114 CA370463873 |
45 | E>G | No |
ClinGen TOPMed |
|
|
rs771208425 CA4654585 |
46 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4654583 rs777918911 |
46 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA4654584 rs749522373 |
46 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA370463893 rs1589897365 |
48 | T>P | No |
ClinGen Ensembl |
|
|
rs200544207 CA4654586 |
49 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370463907 rs1181273669 |
50 | E>G | No |
ClinGen gnomAD |
|
|
rs758917092 CA4654587 |
51 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370463912 rs1332248607 |
51 | R>W | No |
ClinGen gnomAD |
|
|
CA370463937 rs1473725212 |
55 | R>G | No |
ClinGen gnomAD |
|
|
rs1473725212 CA370463938 |
55 | R>W | No |
ClinGen gnomAD |
|
|
CA370463942 rs1589897529 |
56 | T>P | No |
ClinGen Ensembl |
|
|
CA4654588 rs772531182 |
57 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4654589 rs775951855 |
58 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 59 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370463964 rs1392088393 |
60 | G>R | No |
ClinGen gnomAD |
|
|
CA370463985 rs1306626565 |
63 | L>P | No |
ClinGen gnomAD |
|
|
rs1268209875 CA370464000 |
65 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4654590 rs761284270 |
65 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747752014 CA4654605 |
66 | M>* | No |
ClinGen ExAC gnomAD |
|
|
CA173352241 rs370947746 |
66 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4654591 rs370947746 |
66 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1203592881 CA370464021 |
67 | F>L | No |
ClinGen TOPMed |
|
|
CA370464047 rs1589905825 |
70 | F>S | No |
ClinGen Ensembl |
|
|
CA4654606 rs779284517 |
71 | P>L | No |
ClinGen ExAC |
|
|
CA4654608 rs772409351 |
72 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA370464059 CA173353222 rs1033480634 |
72 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4654607 rs746277798 |
72 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs373727150 CA4654609 |
73 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747479028 CA4654610 |
74 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA370464079 rs1187170263 |
76 | V>L | No |
ClinGen gnomAD |
|
|
rs866886233 CA173353297 |
81 | S>R | No |
ClinGen Ensembl |
|
|
rs748923104 CA4654613 |
81 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA370464122 rs1175872146 COSM1623837 |
82 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1589906160 CA370464129 |
83 | I>V | No |
ClinGen Ensembl |
|
|
CA370464145 rs1161651719 |
85 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1446256697 CA370464162 |
88 | R>M | No |
ClinGen Ensembl |
|
| TCGA novel | 89 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376698313 CA370464171 |
89 | N>S | No |
ClinGen gnomAD |
|
|
rs916278285 CA173353336 |
90 | D>G | No |
ClinGen Ensembl |
|
|
COSM1097835 rs528457095 CA4654615 |
90 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs949563844 CA173353342 |
92 | Q>* | No |
ClinGen Ensembl |
|
|
rs1231834620 CA370464190 |
92 | Q>R | No |
ClinGen TOPMed |
|
|
rs1331346266 CA370464209 |
94 | K>N | No |
ClinGen TOPMed |
|
|
rs759462752 CA4654617 |
95 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs759462752 CA4654616 |
95 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA370464220 rs1303024412 |
96 | T>S | No |
ClinGen TOPMed |
|
|
rs868405197 CA173353373 |
97 | Q>K | No |
ClinGen Ensembl |
|
|
rs1318382759 CA370464230 |
98 | F>L | No |
ClinGen gnomAD |
|
|
CA173354136 rs908907041 |
101 | S>N | No |
ClinGen TOPMed |
|
|
CA370464267 rs908907041 |
101 | S>T | No |
ClinGen TOPMed |
|
|
COSM1097836 CA4654646 rs369004678 |
102 | L>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs755273551 CA4654647 |
104 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755273551 CA173354175 |
104 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781753460 CA4654648 |
105 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs748662144 CA4654649 |
105 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1398133440 CA370464297 |
106 | L>F | No |
ClinGen TOPMed |
|
|
rs1472087983 CA370464309 |
108 | G>R | No |
ClinGen gnomAD |
|
|
CA370464313 rs1179348774 |
109 | R>G | No |
ClinGen gnomAD |
|
|
CA370464315 rs1409479082 |
109 | R>Q | No |
ClinGen gnomAD |
|
|
rs949297907 CA173354212 |
111 | Q>R | No |
ClinGen TOPMed |
|
|
CA4654652 rs778509100 |
114 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA370464348 rs1348051050 |
114 | M>V | No |
ClinGen gnomAD |
|
|
CA4654655 rs369667240 |
118 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746873851 CA4654656 |
119 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA4654659 rs761677689 |
121 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759905257 CA173354281 |
123 | F>V | No |
ClinGen Ensembl |
|
|
CA4654660 rs374095715 |
124 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA370464418 rs1209989141 |
124 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4654662 rs762988127 |
125 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 126 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1202525917 CA370464436 |
127 | E>Q | No |
ClinGen gnomAD |
|
|
rs1234266541 CA370464444 |
128 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 130 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1563329385 CA370464454 |
130 | E>Q | No |
ClinGen Ensembl |
|
|
CA370464467 CA4654666 rs553505087 |
131 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370464472 rs1411512904 |
132 | L>S | No |
ClinGen gnomAD |
|
|
CA4654667 rs753269837 |
133 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA370464480 rs1164171677 |
133 | L>P | No |
ClinGen gnomAD |
|
|
rs371275238 CA4654668 |
138 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4654669 rs778600996 |
138 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA370464530 rs1447372205 |
141 | E>D | No |
ClinGen gnomAD |
|
|
CA173354382 rs559623505 |
142 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1247299038 CA370464560 |
146 | H>R | No |
ClinGen gnomAD |
|
|
rs749084226 CA370464682 |
148 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749084226 CA4654691 |
148 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035240027 CA173356042 |
149 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4654695 rs777756318 |
152 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA4654694 rs374350620 |
152 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA173356061 rs988282715 |
157 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs988282715 CA370464768 |
157 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 158 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774247014 CA4654698 |
159 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs536513185 CA4654699 |
161 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772467598 CA4654700 |
163 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775835173 CA4654701 |
163 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4654702 rs761182696 |
165 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA173356111 rs900306463 |
169 | C>S | No |
ClinGen Ensembl |
|
|
rs997451570 CA173356112 |
171 | R>G | No |
ClinGen Ensembl |
|
|
rs1384343649 CA370464934 |
174 | F>L | No |
ClinGen TOPMed |
|
|
CA580151572 rs1326497510 |
175 | V>EAF* | No |
ClinGen gnomAD |
|
|
CA4654732 rs753620152 |
176 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050008895 CA173357058 |
176 | C>G | No |
ClinGen TOPMed |
|
|
CA370464970 rs1179835763 |
177 | D>V | No |
ClinGen gnomAD |
|
|
CA173357106 rs534439094 |
178 | V>F | No |
ClinGen 1000Genomes |
|
|
rs554229017 CA4654736 |
182 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4654737 rs780230543 |
183 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780230543 CA370465001 |
183 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370465011 rs1483514279 |
184 | N>S | No |
ClinGen TOPMed |
|
|
rs769036179 CA4654739 |
185 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1173614744 CA370465020 |
185 | N>K | No |
ClinGen gnomAD |
|
|
rs1317097930 CA370465018 |
185 | N>S | No |
ClinGen gnomAD |
|
|
CA4654740 rs781452956 |
186 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA4654741 rs748518574 |
189 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770188814 CA4654742 COSM2785066 |
189 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA370465086 rs763393875 |
195 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255509017 CA370465081 |
195 | L>V | No |
ClinGen gnomAD |
|
|
CA4654745 rs771594414 |
196 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA173357171 rs1019767797 |
198 | Y>* | No |
ClinGen TOPMed |
|
|
rs1244295407 CA370465113 |
199 | L>W | No |
ClinGen gnomAD |
|
|
rs774941707 CA370465122 CA4654746 |
200 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370465128 rs1322524858 |
201 | K>I | No |
ClinGen Ensembl |
|
|
CA370465133 rs1167165366 |
202 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4654747 rs760148625 |
204 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1463234655 CA370465162 |
206 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs777852042 CA173357185 |
207 | I>V | No |
ClinGen gnomAD |
|
|
CA370465173 rs1400810978 |
208 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4654748 rs371723527 |
208 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371723527 CA173357202 |
208 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370465190 rs1338622354 |
210 | V>A | No |
ClinGen gnomAD |
|
|
rs1589932742 CA370465186 |
210 | V>I | No |
ClinGen Ensembl |
|
|
CA370465193 rs1366531165 |
211 | T>S | No |
ClinGen TOPMed |
|
|
rs1186626680 CA370465212 |
214 | T>A | No |
ClinGen TOPMed |
|
|
rs1383516446 CA370465223 |
215 | Q>H | No |
ClinGen gnomAD |
|
|
rs375355978 CA370465257 |
220 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375355978 CA4654749 |
220 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA173357229 rs757050949 |
220 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA173357680 rs1051380826 |
223 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1251691601 CA370465321 |
227 | S>F | No |
ClinGen TOPMed |
|
|
CA4654778 rs756320335 |
228 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370465323 rs1471986701 |
228 | D>H | No |
ClinGen gnomAD |
|
|
rs777828556 CA4654779 |
229 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs749703834 CA4654780 |
232 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370465352 rs1454107851 |
232 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 233 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757608465 CA4654781 |
233 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs779466093 CA4654782 |
235 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA173357731 COSM1097838 rs891375593 |
235 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1320903426 CA370465387 |
237 | S>C | No |
ClinGen TOPMed |
|
|
rs746312249 CA4654783 |
238 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs868537730 CA173357734 |
238 | Q>P | No |
ClinGen Ensembl |
|
|
CA4654784 rs190252104 |
239 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370465405 rs1318105240 |
240 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs369555554 CA4654786 |
246 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs963008722 CA173357818 |
252 | I>V | No |
ClinGen Ensembl |
|
|
rs774442726 CA370465490 |
253 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs774442726 CA4654791 |
253 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA370465500 rs1162880914 |
254 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA173357838 rs749480485 |
255 | P>L | No |
ClinGen Ensembl |
|
|
rs267601844 CA4654792 |
255 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs536709249 CA4654793 |
256 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 257 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370465519 rs1589936913 |
257 | E>V | No |
ClinGen Ensembl |
|
|
CA173357852 rs1033691077 |
258 | R>K | No |
ClinGen gnomAD |
|
|
CA4654794 rs752862040 |
259 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4654796 rs764361805 |
259 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs373548938 CA4654797 |
260 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370465544 rs1411950274 |
261 | K>R | No |
ClinGen TOPMed |
|
|
rs779194776 CA4654799 |
263 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370465556 rs1374192193 |
263 | L>V | No |
ClinGen gnomAD |
|
|
CA370465566 rs1472636759 |
264 | N>S | No |
ClinGen TOPMed |
|
|
rs780400354 CA4654802 |
268 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361956835 CA370465588 |
268 | M>V | No |
ClinGen gnomAD |
|
|
CA370465595 rs1189118607 |
269 | R>G | No |
ClinGen TOPMed |
|
|
rs1306609150 CA370465640 |
274 | M>I | No |
ClinGen gnomAD |
|
|
rs747748557 CA4654803 |
274 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs966158092 CA173357926 |
279 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs966158092 CA370465672 |
279 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 279 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370465916 rs1470566139 |
280 | S>N | No |
ClinGen gnomAD |
|
|
CA4654824 rs200890838 |
281 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370465954 rs1188103994 |
283 | D>G | No |
ClinGen TOPMed |
|
|
CA4654826 rs778686841 |
285 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs771762397 CA4654828 |
286 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370466051 rs1460771002 |
290 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA370466055 rs371178343 |
291 | L>I | No |
ClinGen ESP TOPMed |
|
|
rs371178343 CA173358763 |
291 | L>V | No |
ClinGen ESP TOPMed |
|
|
rs775504850 CA4654829 |
292 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 294 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368776288 CA4654831 |
296 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370466177 rs1226368581 |
300 | S>T | No |
ClinGen TOPMed |
|
|
rs750602517 CA4654836 |
305 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4654835 rs750602517 |
305 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370466253 rs1197573943 |
309 | Q>R | No |
ClinGen gnomAD |
|
|
rs755500456 CA4654839 |
311 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4654840 rs781755467 |
317 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs781755467 CA370466302 |
317 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs201680124 CA4654841 |
320 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA173358835 rs1046512084 |
321 | N>Y | No |
ClinGen Ensembl |
|
|
CA4654843 rs778694702 |
323 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA370466369 rs1563354365 |
326 | V>A | No |
ClinGen Ensembl |
|
|
rs745449238 CA4654844 |
326 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745449238 CA370466366 |
326 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370466373 rs1346781572 |
327 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 328 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1018758641 CA173358861 |
329 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 329 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771917942 CA370466394 |
330 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4654845 rs771917942 |
330 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs367549420 CA4654846 |
330 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1323321924 CA370466395 |
330 | Q>R | No |
ClinGen gnomAD |
|
|
rs1284642058 CA370466423 |
334 | F>L | No |
ClinGen gnomAD |
|
|
rs1185867227 CA370466450 |
336 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4654872 rs542684836 |
337 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1213881807 CA370466452 |
337 | P>S | No |
ClinGen Ensembl |
|
|
CA173360204 rs1018959796 |
338 | N>D | No |
ClinGen Ensembl |
|
|
CA4654873 rs372392219 |
339 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375453388 CA4654874 |
340 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375453388 CA370466472 |
340 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370155505 CA4654876 |
342 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4654878 rs35459696 |
343 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370466512 rs1274202534 |
347 | L>V | No |
ClinGen TOPMed |
|
|
CA370466518 rs1340870135 |
348 | L>F | No |
ClinGen gnomAD |
|
|
rs1437054851 CA370466531 |
350 | D>H | No |
ClinGen TOPMed |
|
|
CA4654881 rs200349817 |
352 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs754779135 CA4654883 |
353 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4654885 rs748113404 |
354 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4654884 rs780914331 |
354 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA370466564 rs1160611349 COSM1739456 |
355 | Y>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1428301995 CA370466586 |
358 | V>G | No |
ClinGen gnomAD |
|
|
rs756044615 CA4654886 |
358 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4654888 rs749386095 |
360 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370466596 rs1394817435 |
360 | I>V | No |
ClinGen TOPMed |
|
|
rs1476100678 CA370466611 |
362 | R>C | No |
ClinGen gnomAD |
|
|
rs368911884 CA4654889 |
362 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368911884 CA4654890 |
362 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4654891 rs761134056 |
364 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs201441791 CA4654892 |
366 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370466650 rs1402564326 |
368 | K>Q | No |
ClinGen gnomAD |
|
|
CA4654893 rs775961522 |
369 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370466663 rs761073465 |
369 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375905187 CA4654895 |
373 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4654896 rs777188005 |
375 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA370466705 rs1282683063 |
376 | R>K | No |
ClinGen gnomAD |
|
|
CA370466717 rs1321532545 |
377 | E>D | No |
ClinGen gnomAD |
|
|
CA173360363 rs1051527049 |
378 | K>T | No |
ClinGen TOPMed |
|
|
rs762371600 CA4654897 |
379 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 379 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 379 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206057519 CA370466725 |
379 | T>P | No |
ClinGen gnomAD |
|
|
CA4654899 rs370899313 |
380 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4654923 rs752343124 |
382 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA370459956 rs1420083557 |
384 | D>Y | No |
ClinGen gnomAD |
|
|
CA370459974 rs1364005066 |
386 | D>G | No |
ClinGen gnomAD |
|
|
rs201728325 CA370459990 |
388 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4654926 rs201728325 |
388 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4654928 rs778966729 |
389 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193448539 CA370459992 |
389 | A>P | No |
ClinGen TOPMed |
|
|
CA4654929 rs778966729 |
389 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370459999 rs1354862171 |
390 | K>R | No |
ClinGen gnomAD |
|
|
CA370459998 rs1354862171 |
390 | K>T | No |
ClinGen gnomAD |
|
|
rs1290558902 CA370460026 |
394 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1290558902 CA370460025 |
394 | R>G | No |
ClinGen gnomAD |
|
|
rs781249850 CA173309819 |
394 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA370460033 rs1187383153 |
395 | H>R | No |
ClinGen TOPMed |
|
|
rs1356882721 CA370460068 |
400 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1356882721 CA370460067 |
400 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4654932 rs368256369 |
402 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 403 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370460107 rs1311418638 |
406 | S>A | No |
ClinGen TOPMed |
|
|
CA173309856 rs372346867 |
406 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372346867 CA370460109 |
406 | S>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1297037672 CA370460113 |
407 | T>N | No |
ClinGen TOPMed |
|
|
rs770333259 CA4654936 |
409 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1589975572 CA370460164 |
414 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 414 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370460183 rs935830827 |
417 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs935830827 CA173309897 |
417 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4654938 rs200560882 |
419 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353944748 CA370460202 |
420 | W>G | No |
ClinGen gnomAD |
|
|
CA4654939 rs771504311 |
423 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4654940 rs375406712 |
424 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA173309912 rs369022361 |
425 | S>Y | No |
ClinGen ESP TOPMed |
|
|
rs760327354 CA4654941 |
426 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA370460251 rs1313326364 |
427 | E>G | No |
ClinGen gnomAD |
|
|
rs763829437 CA4654942 |
428 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs776532897 CA4654943 |
428 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA370460263 rs1361496963 |
429 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4654944 rs761681501 |
431 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1212265077 CA370460312 |
434 | T>A | No |
ClinGen gnomAD |
|
|
rs771594267 CA4654958 |
436 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs375268841 CA173311391 |
437 | C>R | No |
ClinGen Ensembl |
|
|
rs1318026096 CA370460337 |
438 | L>M | No |
ClinGen gnomAD |
|
|
rs553833488 CA4654959 |
439 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4654961 rs200006596 |
442 | T>M | Variant assessed as Somatic; 0.0005566 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200006596 CA370460370 |
442 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229094379 CA370460384 |
444 | T>I | No |
ClinGen TOPMed |
|
|
rs761701515 CA4654963 |
446 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 450 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196151644 CA370460431 |
451 | F>L | No |
ClinGen gnomAD |
|
|
CA4654964 rs765063455 |
451 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773301792 CA4654965 |
452 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1415377021 CA370460458 |
455 | M>T | No |
ClinGen gnomAD |
|
|
CA4654966 rs762940608 |
455 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370460465 rs1318116410 |
456 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs980115002 CA173311458 |
457 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1181634794 CA370460522 |
462 | Y>C | No |
ClinGen gnomAD |
|
|
rs1324600963 CA370460527 |
463 | K>E | No |
ClinGen TOPMed |
|
|
rs780539461 CA4655000 |
465 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs895789184 CA173312622 |
466 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1589991624 CA370460562 |
468 | S>N | No |
ClinGen Ensembl |
|
|
rs1469194951 CA370460588 |
472 | L>I | No |
ClinGen TOPMed |
|
|
rs199608596 CA4655003 |
474 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423554266 CA370460605 |
474 | A>V | No |
ClinGen gnomAD |
|
|
CA370460608 rs1488656631 |
475 | L>F | No |
ClinGen Ensembl |
|
|
CA4655004 rs200274549 |
475 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770627940 CA4655005 |
476 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4655006 rs774405072 |
478 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA370460633 rs1448676841 |
479 | I>T | No |
ClinGen gnomAD |
|
|
CA370460640 rs1589991839 |
480 | S>C | No |
ClinGen Ensembl |
|
|
CA173312666 rs966604872 |
482 | P>L | No |
ClinGen gnomAD |
|
|
CA4655008 rs562992082 |
485 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370460684 rs1286180175 |
487 | Q>P | No |
ClinGen gnomAD |
|
|
CA370460692 rs1195350511 |
488 | G>E | No |
ClinGen gnomAD |
|
|
rs1453077974 CA370460689 |
488 | G>R | No |
ClinGen TOPMed |
|
|
rs375525763 CA4655010 |
489 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777253665 CA4655011 |
492 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443173922 CA370460726 CA370460727 |
493 | Q>H | No |
ClinGen gnomAD |
|
|
CA173312688 rs566777056 |
494 | R>K | No |
ClinGen gnomAD |
|
|
CA4655012 rs753990136 |
495 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370460745 rs372135666 |
497 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4655014 rs372135666 |
497 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4655015 rs750982578 |
500 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766946946 COSM2156185 CA4655017 |
501 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs755621121 CA4655019 |
504 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370460791 rs1420836867 |
504 | F>I | No |
ClinGen TOPMed |
|
|
rs201666509 CA4655020 |
505 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4655024 rs757125023 |
506 | L>P | No |
ClinGen ExAC TOPMed |
|
|
CA370460809 rs1276334973 |
507 | G>W | No |
ClinGen gnomAD |
|
|
rs1320114777 CA370460817 |
508 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA370460831 rs1219716439 |
509 | Y>C | No |
ClinGen gnomAD |
|
|
rs1563417915 CA370461574 |
513 | C>R | No |
ClinGen Ensembl |
|
|
CA173316481 rs553467813 |
513 | C>Y | No |
ClinGen 1000Genomes |
|
| TCGA novel | 515 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 516 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472971918 CA370461622 |
516 | V>I | No |
ClinGen TOPMed |
|
|
CA173316498 rs267601845 |
517 | L>F | No |
ClinGen Ensembl |
|
|
CA4655042 rs778576227 |
518 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA370461682 rs1266878285 |
520 | M>I | No |
ClinGen Ensembl |
|
|
rs1370125597 CA370461728 |
523 | M>I | No |
ClinGen TOPMed |
|
|
rs758119623 CA370461719 |
523 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1377921406 CA370461725 |
523 | M>R | No |
ClinGen gnomAD |
|
|
rs758119623 CA4655044 |
523 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs747088887 CA173316559 |
526 | P>L | No |
ClinGen TOPMed |
|
|
CA370461798 rs1420346746 |
529 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 529 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768764921 CA173316562 |
531 | G>D | No |
ClinGen gnomAD |
|
|
rs1388970952 CA370461827 |
532 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1388970952 CA370461825 |
532 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4655046 rs746931739 |
534 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4655048 rs776726324 |
536 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4655049 rs748212983 |
537 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1283411484 CA370461860 |
537 | P>S | No |
ClinGen gnomAD |
|
|
rs769923952 CA4655050 |
538 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs377624955 CA4655051 |
538 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766838619 CA173316649 |
542 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA370461892 rs1268047616 |
542 | P>L | No |
ClinGen gnomAD |
|
|
rs766838619 CA4655053 |
542 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1358898471 CA370461909 |
545 | R>G | No |
ClinGen TOPMed |
|
|
rs1259542465 CA370461920 |
546 | K>R | No |
ClinGen TOPMed |
|
|
rs1438831272 CA370461924 |
547 | G>S | No |
ClinGen gnomAD |
|
|
rs200063039 COSM3432252 CA4655073 |
548 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1563447397 CA370462434 |
548 | S>T | No |
ClinGen Ensembl |
|
|
rs1317167961 CA370462443 |
549 | D>G | No |
ClinGen TOPMed |
|
|
rs1272066391 CA370462460 |
552 | L>V | No |
ClinGen gnomAD |
|
|
CA4655075 rs376453962 |
553 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764222299 CA173322022 |
554 | P>L | No |
ClinGen Ensembl |
|
|
rs962818420 CA173322049 |
555 | C>G | No |
ClinGen TOPMed |
|
|
CA4655077 rs764786661 |
556 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1477962699 CA370462490 |
557 | S>N | No |
ClinGen gnomAD |
|
|
rs1299138126 CA370462494 |
557 | S>R | No |
ClinGen TOPMed |
|
|
rs1189991680 CA370462495 |
558 | K>Q | No |
ClinGen gnomAD |
|
|
rs190709252 CA4655079 |
559 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 560 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4655081 rs201624070 |
560 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 562 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs978577766 CA173322134 |
563 | Y>C | No |
ClinGen Ensembl |
|
|
rs1299452345 CA370462530 |
563 | Y>H | No |
ClinGen gnomAD |
|
|
rs570749778 CA4655084 |
564 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370462545 rs1590048327 |
565 | L>I | No |
ClinGen Ensembl |
|
|
rs777879811 CA4655086 |
566 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs765430951 CA173322141 |
568 | M>I | No |
ClinGen TOPMed |
|
|
rs749339331 CA4655087 |
570 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370462596 rs1219640861 |
572 | F>C | No |
ClinGen gnomAD |
|
|
CA4655112 rs201369976 |
574 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758734081 CA4655114 |
578 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364064784 CA370462652 |
579 | D>H | No |
ClinGen gnomAD |
|
|
rs747291873 CA4655116 |
579 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA173323440 rs374552952 |
582 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM281947 rs920157600 CA173323444 |
583 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs748867290 CA4655119 |
584 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA370462687 rs748867290 |
584 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA4655120 rs770416689 |
585 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 586 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1443673214 CA370462717 |
588 | H>Y | No |
ClinGen TOPMed |
|
|
rs767038227 CA4655123 |
594 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs775376308 CA4655124 |
595 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA370462776 rs945573757 |
596 | E>D | No |
ClinGen TOPMed |
|
|
rs764096131 CA370462793 |
599 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA4655126 rs764096131 |
599 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760330011 CA4655125 |
599 | R>W | Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA173323524 rs931603457 |
601 | E>* | No |
ClinGen TOPMed |
|
|
rs757467559 CA4655128 |
602 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1289772775 CA370462815 |
603 | L>I | No |
ClinGen TOPMed |
|
|
rs1245301230 CA370462839 |
606 | K>T | No |
ClinGen TOPMed |
|
|
rs367792193 CA4655132 |
609 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1332075774 CA370462872 |
611 | I>N | No |
ClinGen gnomAD |
|
|
rs180799303 CA4655133 |
612 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 612 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4655134 rs371868548 |
614 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370462913 rs781709503 |
617 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4655136 rs748634307 |
617 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA4655135 rs781709503 |
617 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370462930 rs1401262843 |
619 | Y>C | No |
ClinGen gnomAD |
|
|
rs1423474490 CA370462928 |
619 | Y>H | No |
ClinGen TOPMed |
|
|
CA4655138 COSM1097845 rs375757550 |
620 | E>D | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4655140 rs369284387 |
624 | N>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs933425914 CA173323622 |
624 | N>Y | No |
ClinGen Ensembl |
|
|
rs774936753 CA4655141 |
626 | V>I | No |
ClinGen ExAC TOPMed |
|
|
CA4655167 rs761648547 |
629 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370463020 rs1407240186 |
630 | D>A | No |
ClinGen TOPMed |
|
|
rs769863249 CA4655168 |
632 | L>V | No |
ClinGen ExAC |
|
|
CA173325087 rs951963643 |
633 | E>Q | No |
ClinGen TOPMed |
|
|
CA173325110 rs931640631 |
635 | F>C | No |
ClinGen Ensembl |
|
|
rs773023831 CA4655169 |
635 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1050067045 CA173325122 |
637 | Y>C | No |
ClinGen TOPMed |
|
|
CA4655170 rs763155406 |
638 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs374085068 CA4655173 |
647 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1476757580 CA370463134 |
647 | H>Y | No |
ClinGen TOPMed |
|
|
rs767678661 CA4655174 |
648 | L>M | No |
ClinGen ExAC |
|
|
rs1590063452 CA370463173 |
653 | N>H | No |
ClinGen Ensembl |
|
|
CA173325188 rs747408774 |
653 | N>K | No |
ClinGen Ensembl |
|
|
COSM2785090 CA173325215 rs995085239 |
654 | Q>E | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1389260107 CA370463211 |
658 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA370463231 rs1420660638 |
659 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 659 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746013325 CA4655207 |
662 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs772125641 CA4655208 |
662 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1312906843 CA370463289 |
669 | K>Q | No |
ClinGen gnomAD |
|
|
rs760852045 CA4655210 |
670 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs781132274 CA4655213 |
676 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA173330642 rs781132274 |
676 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 677 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157422286 CA370463358 |
679 | M>T | No |
ClinGen gnomAD |
|
|
rs765734517 CA4655214 |
679 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754588177 CA4655216 |
681 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA4655217 rs767108593 |
685 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4655218 rs200189295 |
685 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4655219 rs200189295 |
685 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA173330661 rs201755866 |
686 | C>Y | No |
ClinGen gnomAD |
|
|
rs984497704 CA173330677 |
688 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1045810900 CA173330687 |
690 | L>M | No |
ClinGen TOPMed |
|
|
CA370463442 rs1405375599 |
692 | V>L | No |
ClinGen TOPMed |
|
|
rs778877659 CA4655223 |
693 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs757069892 CA4655222 |
693 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA370463453 rs1455262070 |
694 | L>Q | No |
ClinGen gnomAD |
|
|
rs185748318 CA4655224 |
696 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA173330711 rs1055985656 |
696 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA370463492 rs1329104027 |
700 | N>H | No |
ClinGen gnomAD |
|
|
CA4655226 rs780134789 |
702 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA370463520 rs1385528931 |
703 | I>S | No |
ClinGen TOPMed |
|
|
CA370463527 rs1323579124 |
704 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA370463529 rs1468278024 |
705 | L>I | No |
ClinGen TOPMed |
|
|
rs1428903068 CA370463543 |
707 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA173330749 rs1030935969 |
709 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1235290978 CA370463564 |
710 | T>I | No |
ClinGen gnomAD |
No associated diseases with Q9NVR2
No regional properties for Q9NVR2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NVR2 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integrator complex | A protein complex that stably associates with the C-terminus of RNA polymerase II and mediates 3'-end processing of small nuclear RNAs generated by RNA polymerase II. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| regulation of transcription elongation by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II. |
| snRNA processing | Any process involved in the conversion of a primary small nuclear RNA (snRNA) transcript into a mature snRNA molecule. The primary function of snRNAs is processing pre-messenger RNA in the nucleus. They have also been shown to aid in the regulation of transcription factors (7SK RNA) or RNA polymerase II (B2 RNA), and maintaining the telomeres. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8K2A7 | Ints10 | Integrator complex subunit 10 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSAQGDCEFL | VQRARELVPQ | DLWAAKAWLI | TARSLYPADF | NIQYEMYTIE | RNAERTATAG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RLLYDMFVNF | PDQPVVWREI | SIITSALRND | SQDKQTQFLR | SLFETLPGRV | QCEMLLKVTE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QCFNTLERSE | MLLLLLRRFP | ETVVQHGVGL | GEALLEAETI | EEQESPVNCF | RKLFVCDVLP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LIINNHDVRL | PANLLYKYLN | KAAEFYINYV | TRSTQIENQH | QGAQDTSDLM | SPSKRSSQKY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IIEGLTEKSS | QIVDPWERLF | KILNVVGMRC | EWQMDKGRRS | YGDILHRMKD | LCRYMNNFDS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EAHAKYKNQV | VYSTMLVFFK | NAFQYVNSIQ | PSLFQGPNAP | SQVPLVLLED | VSNVYGDVEI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DRNKHIHKKR | KLAEGREKTM | SSDDEDCSAK | GRNRHIVVNK | AELANSTEVL | ESFKLARESW |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ELLYSLEFLD | KEFTRICLAW | KTDTWLWLRI | FLTDMIIYQG | QYKKAIASLH | HLAALQGSIS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QPQITGQGTL | EHQRALIQLA | TCHFALGEYR | MTCEKVLDLM | CYMVLPIQDG | GKSQEEPSKV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KPKFRKGSDL | KLLPCTSKAI | MPYCLHLMLA | CFKLRAFTDN | RDDMALGHVI | VLLQQEWPRG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ENLFLKAVNK | ICQQGNFQYE | NFFNYVTNID | MLEEFAYLRT | QEGGKIHLEL | LPNQGMLIKH |
| 670 | 680 | 690 | 700 | ||
| HTVTRGITKG | VKEDFRLAME | RQVSRCGENL | MVVLHRFCIN | EKILLLQTLT |