P33981
Gene name |
TTK (MPS1, MPS1L1) |
Protein name |
Dual specificity protein kinase TTK |
Names |
Phosphotyrosine picked threonine-protein kinase, PYT |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7272 |
EC number |
2.7.12.1: Dual-specificity kinases (those acting on Ser/Thr and Tyr residues) |
Protein Class |
MIXED LINEAGE PROTEIN KINASE (PTHR22974) |

Descriptions
Monopolar spindle 1 (MPS1 or TTK) is a conserved apical kinase in the spindle assembly checkpoint (SAC) that ensures accurate segregation of chromosomes during mitosis. MPS1 undergoes extensive auto- and transphosphorylation. The N-terminal extension harbors multiple phosphorylation sites and is involved in dimerization and catalytic activation. Phosphorylation within the N-terminal extension contributes to MPS1 activation through relief of catalytic autoinhibition that is mediated by the N-terminal extension itself.
Autoinhibitory domains (AIDs)
Target domain |
525-791 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
Deletion assay, Mutagenesis experiment |
Accessory elements
663-688 (Activation loop from InterPro)
Target domain |
525-791 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
Autoinhibited structure

Activated structure

79 structures for P33981
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2X9E | X-ray | 310 A | A | 514-828 | PDB |
2ZMC | X-ray | 314 A | A | 510-857 | PDB |
2ZMD | X-ray | 288 A | A | 510-857 | PDB |
3CEK | X-ray | 230 A | A | 519-808 | PDB |
3DBQ | X-ray | 270 A | A | 515-857 | PDB |
3GFW | X-ray | 274 A | A | 519-808 | PDB |
3H9F | X-ray | 260 A | A | 519-808 | PDB |
3HMN | X-ray | 270 A | A | 510-809 | PDB |
3HMO | X-ray | 240 A | A | 510-809 | PDB |
3HMP | X-ray | 230 A | A | 510-809 | PDB |
3VQU | X-ray | 240 A | A | 516-820 | PDB |
3W1F | X-ray | 270 A | A | 516-820 | PDB |
3WYX | X-ray | 290 A | A | 516-820 | PDB |
3WYY | X-ray | 305 A | A | 516-820 | PDB |
3WZJ | X-ray | 275 A | A | 516-820 | PDB |
3WZK | X-ray | 230 A | A | 516-820 | PDB |
4B94 | X-ray | 220 A | A/B/C/D | 62-239 | PDB |
4BHZ | X-ray | 285 A | A | 519-808 | PDB |
4BI0 | X-ray | 284 A | A | 519-808 | PDB |
4BI1 | X-ray | 270 A | A | 519-808 | PDB |
4BI2 | X-ray | 311 A | A | 519-808 | PDB |
4C4E | X-ray | 260 A | A | 519-808 | PDB |
4C4F | X-ray | 236 A | A | 519-808 | PDB |
4C4G | X-ray | 265 A | A | 519-808 | PDB |
4C4H | X-ray | 280 A | A | 519-808 | PDB |
4C4I | X-ray | 265 A | A | 519-808 | PDB |
4C4J | X-ray | 250 A | A | 519-808 | PDB |
4CV8 | X-ray | 300 A | A | 519-808 | PDB |
4CV9 | X-ray | 250 A | A | 519-808 | PDB |
4CVA | X-ray | 250 A | A | 519-808 | PDB |
4D2S | X-ray | 250 A | A | 514-795 | PDB |
4H7X | X-ray | 260 A | A/B | 55-210 | PDB |
4H7Y | X-ray | 180 A | A/B/C/D | 55-210 | PDB |
4JS8 | X-ray | 194 A | A | 515-795 | PDB |
4JT3 | X-ray | 220 A | A | 515-795 | PDB |
4O6L | X-ray | 238 A | A/B | 515-795 | PDB |
4ZEG | X-ray | 233 A | A | 515-795 | PDB |
5AP0 | X-ray | 215 A | A | 519-808 | PDB |
5AP1 | X-ray | 205 A | A | 519-808 | PDB |
5AP2 | X-ray | 280 A | A | 519-808 | PDB |
5AP3 | X-ray | 270 A | A | 519-808 | PDB |
5AP4 | X-ray | 285 A | A | 519-808 | PDB |
5AP5 | X-ray | 280 A | A | 519-808 | PDB |
5AP6 | X-ray | 210 A | A | 519-808 | PDB |
5AP7 | X-ray | 245 A | A | 519-808 | PDB |
5EH0 | X-ray | 218 A | A | 519-794 | PDB |
5EHL | X-ray | 266 A | A | 519-808 | PDB |
5EHO | X-ray | 218 A | A | 519-808 | PDB |
5EHY | X-ray | 226 A | A | 519-808 | PDB |
5EI2 | X-ray | 267 A | A | 519-808 | PDB |
5EI6 | X-ray | 201 A | A | 519-808 | PDB |
5EI8 | X-ray | 217 A | A | 519-753 | PDB |
5LJJ | X-ray | 300 A | A | 519-808 | PDB |
5MRB | X-ray | 220 A | A | 519-808 | PDB |
5N7V | X-ray | 252 A | A | 519-808 | PDB |
5N84 | X-ray | 230 A | A | 519-808 | PDB |
5N87 | X-ray | 229 A | A | 519-808 | PDB |
5N93 | X-ray | 210 A | A | 519-808 | PDB |
5N9S | X-ray | 230 A | A | 519-808 | PDB |
5NA0 | X-ray | 290 A | A | 519-808 | PDB |
5NAD | X-ray | 280 A | A | 519-808 | PDB |
5NTT | X-ray | 275 A | A | 519-797 | PDB |
5O91 | X-ray | 320 A | A | 519-808 | PDB |
6B4W | X-ray | 290 A | A | 515-795 | PDB |
6GVJ | X-ray | 241 A | A | 400-808 | PDB |
6H3K | X-ray | 248 A | A | 519-794 | PDB |
6N6O | X-ray | 260 A | A | 515-795 | PDB |
6TN9 | X-ray | 260 A | A | 515-806 | PDB |
6TNB | X-ray | 265 A | A | 515-806 | PDB |
6TNC | X-ray | 230 A | A | 515-806 | PDB |
6TND | X-ray | 258 A | A | 515-806 | PDB |
7CHM | X-ray | 265 A | A | 515-795 | PDB |
7CHN | X-ray | 240 A | A | 515-795 | PDB |
7CHT | X-ray | 240 A | A | 515-795 | PDB |
7CIL | X-ray | 230 A | A | 515-795 | PDB |
7CJA | X-ray | 249 A | A | 515-795 | PDB |
7CLH | X-ray | 290 A | A | 515-795 | PDB |
7LQD | X-ray | 195 A | A | 519-808 | PDB |
AF-P33981-F1 | Predicted | AlphaFoldDB |
655 variants for P33981
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
RCV002244866 CA16603112 COSM84994 rs1057520011 |
697 | D>Y | Neoplasm of the pancreas pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA141873866 rs867311877 |
4 | E>K | No |
ClinGen TOPMed |
|
rs772044461 CA3901676 |
5 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1035762334 CA141873899 |
7 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs1308105195 CA364635661 |
8 | G>A | No |
ClinGen gnomAD |
|
TCGA novel | 10 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3901677 rs775788767 |
13 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1218531522 CA364635745 |
16 | I>V | No |
ClinGen gnomAD |
|
CA364635754 rs1430791863 |
17 | M>T | No |
ClinGen TOPMed |
|
rs757845279 CA3901678 |
18 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA3901679 rs765099875 |
18 | N>K | No |
ClinGen ExAC gnomAD |
|
rs1004064525 CA141873942 |
18 | N>S | No |
ClinGen Ensembl |
|
CA364635782 rs1212996087 |
21 | R>I | No |
ClinGen gnomAD |
|
CA3901680 rs567093928 |
22 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1472854078 CA364635818 |
25 | N>S | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 26 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 27 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs762701284 CA3901681 |
28 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA364635885 rs1562008876 |
29 | N>D | No |
ClinGen Ensembl |
|
TCGA novel | 29 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1441870045 CA364635925 |
31 | D>E | No |
ClinGen gnomAD |
|
CA364635923 rs1463272539 |
31 | D>V | No |
ClinGen TOPMed |
|
rs751483992 CA141873962 CA3901683 |
34 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364635999 rs1344083976 |
36 | L>Q | No |
ClinGen TOPMed |
|
CA3901684 rs754548500 |
37 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364636060 rs1359768634 |
40 | K>E | No |
ClinGen gnomAD |
|
TCGA novel | 40 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA364636143 rs1447391810 |
45 | T>I | No |
ClinGen gnomAD |
|
CA3901685 rs368624175 |
46 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
CA364636878 rs1314086478 |
47 | D>E | No |
ClinGen gnomAD |
|
CA141875389 rs772861170 |
47 | D>G | No |
ClinGen Ensembl |
|
CA364636889 rs1362436584 |
48 | N>D | No |
ClinGen gnomAD |
|
rs747103890 CA3901718 |
49 | S>L | No |
ClinGen ExAC gnomAD |
|
CA141875410 rs913087423 |
52 | V>I | No |
ClinGen Ensembl |
|
CA141875411 rs967188136 |
53 | N>H | No |
ClinGen TOPMed gnomAD |
|
rs200207796 CA3901721 |
53 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA141875427 rs868010271 |
54 | Q>* | No |
ClinGen Ensembl |
|
rs1246462606 CA364637070 |
55 | I>M | No |
ClinGen gnomAD |
|
CA141875436 rs978569988 |
55 | I>T | No |
ClinGen Ensembl |
|
rs1284430157 CA364637076 |
56 | M>V | No |
ClinGen gnomAD |
|
CA364637106 rs770723697 |
57 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3901722 rs770723697 |
57 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364637135 rs1218527440 |
58 | M>T | No |
ClinGen gnomAD |
|
CA3901723 rs774081878 |
58 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1288755092 CA364637152 |
59 | A>T | No |
ClinGen gnomAD |
|
CA3901724 rs759346384 |
60 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775486276 CA3901726 |
63 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767406007 CA3901725 |
63 | E>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 64 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1425644700 CA364637316 |
66 | L>W | No |
ClinGen gnomAD |
|
CA3901727 rs760172960 |
67 | S>N | No |
ClinGen ExAC gnomAD |
|
rs763634581 CA3901728 |
70 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1161491003 CA364637409 |
71 | K>R | No |
ClinGen gnomAD |
|
CA364637470 rs1420295336 |
74 | K>E | No |
ClinGen gnomAD |
|
CA364637522 rs1373776576 COSM3176130 COSM3176129 |
76 | S>G | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA3901732 rs142681483 |
77 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3901733 rs367719510 |
78 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA364637567 rs367719510 |
78 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs747546403 CA3901735 |
79 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA141875549 rs923040563 |
81 | D>V | No |
ClinGen TOPMed |
|
rs1474002310 CA364637647 |
82 | A>T | No |
ClinGen TOPMed |
|
rs1244197911 CA364637675 |
83 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA364637733 rs1355032367 |
86 | K>E | No |
ClinGen gnomAD |
|
CA141875618 rs1036094009 |
87 | L>F | No |
ClinGen gnomAD |
|
rs748390988 CA3901738 |
87 | L>W | No |
ClinGen ExAC gnomAD |
|
rs770044427 CA3901739 |
88 | I>T | No |
ClinGen ExAC gnomAD |
|
rs1047423274 CA141875620 |
90 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA3901740 rs376160183 |
90 | R>H | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs745708448 CA3901741 |
92 | S>R | No |
ClinGen ExAC gnomAD |
|
CA364637973 rs1239713358 |
94 | A>G | No |
ClinGen gnomAD |
|
rs1440083356 CA364637999 |
95 | I>S | No |
ClinGen gnomAD |
|
CA364637983 rs1270402844 |
95 | I>V | No |
ClinGen TOPMed |
|
CA364638016 rs1229650680 |
96 | E>K | No |
ClinGen TOPMed |
|
CA3901742 VAR_037141 rs2230513 |
97 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1582085855 CA364638091 |
99 | P>A | No |
ClinGen Ensembl |
|
CA3901746 rs776244342 |
101 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs368277234 CA3901747 |
102 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA141875684 rs749680365 |
103 | Y>C | No |
ClinGen Ensembl |
|
TCGA novel | 105 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs56051245 CA141875691 |
107 | E>K | No |
ClinGen gnomAD |
|
CA364638323 rs1391204580 |
108 | S>I | No |
ClinGen gnomAD |
|
rs750072933 CA3901749 |
110 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364638403 rs1562010147 |
111 | R>G | No |
ClinGen Ensembl |
|
CA364638439 rs1562010152 |
112 | I>N | No |
ClinGen Ensembl |
|
CA364638452 rs1314512247 |
113 | Q>E | No |
ClinGen TOPMed gnomAD |
|
rs1255547191 CA364638594 |
120 | K>E | No |
ClinGen gnomAD |
|
TCGA novel | 121 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3901751 rs766698455 |
121 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3901770 rs766675492 |
126 | D>G | No |
ClinGen ExAC gnomAD |
|
rs751911841 CA3901771 |
129 | R>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel rs1582086296 CA364638838 |
129 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
CA364638878 rs1210284726 |
131 | Y>C | No |
ClinGen gnomAD |
|
TCGA novel | 140 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3901773 rs372511572 |
140 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA141876069 rs201365987 |
142 | F>L | No |
ClinGen Ensembl |
|
TCGA novel | 143 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA364639142 rs1195271914 |
144 | F>C | No |
ClinGen gnomAD |
|
rs919014661 CA141876071 |
145 | V>I | No |
ClinGen Ensembl |
|
rs759057062 CA141876073 |
146 | H>D | No |
ClinGen Ensembl |
|
CA364639182 rs759057062 |
146 | H>N | No |
ClinGen Ensembl |
|
rs1423895846 CA364639199 |
147 | I>V | No |
ClinGen gnomAD |
|
CA3901775 rs145266061 |
148 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs753199840 CA3901774 |
148 | S>P | No |
ClinGen ExAC gnomAD |
|
CA3901777 rs144032191 |
149 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA364639299 rs1305159114 |
151 | Q>K | No |
ClinGen TOPMed |
|
CA141876136 rs867154764 |
152 | F>S | No |
ClinGen gnomAD |
|
rs867154764 CA364639333 |
152 | F>Y | No |
ClinGen gnomAD |
|
rs1435867625 CA364639400 |
155 | S>L | No |
ClinGen TOPMed |
|
CA364639413 rs1278989642 |
156 | Q>K | No |
ClinGen gnomAD |
|
CA3901808 rs781074484 |
158 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364641334 rs1359954464 |
158 | N>S | No |
ClinGen gnomAD |
|
CA3901811 rs748116446 |
160 | K>E | No |
ClinGen ExAC gnomAD |
|
CA364641393 rs1380258298 |
162 | S>G | No |
ClinGen TOPMed gnomAD |
|
rs751135082 | 162 | S>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs751135082 | 162 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1409135346 CA364641425 |
164 | Q>K | No |
ClinGen gnomAD |
|
CA3901813 rs777540164 |
166 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748887464 CA3901814 |
168 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA141878383 rs975019437 |
169 | A>T | No |
ClinGen Ensembl |
|
TCGA novel | 171 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs772451937 CA3901818 |
172 | R>C | No |
ClinGen ExAC gnomAD |
|
CA141878421 rs772102753 |
172 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA364641482 rs772102753 |
172 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs772451937 CA364641480 |
172 | R>S | No |
ClinGen ExAC gnomAD |
|
rs1260898018 CA364641489 |
174 | A>T | No |
ClinGen gnomAD |
|
TCGA novel | 181 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3901823 rs151265706 |
185 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3901822 rs142356650 |
185 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1264711807 CA364641563 |
186 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs934998687 CA141878454 |
187 | L>* | No |
ClinGen TOPMed gnomAD |
|
CA3901825 rs750685395 |
188 | N>K | No |
ClinGen ExAC gnomAD |
|
CA364641590 rs1562011725 |
190 | Q>K | No |
ClinGen Ensembl |
|
CA3901828 rs767449958 |
191 | K>I | No |
ClinGen ExAC gnomAD |
|
rs1335082917 CA364641607 |
192 | K>* | No |
ClinGen gnomAD |
|
CA364641606 rs1335082917 |
192 | K>E | No |
ClinGen gnomAD |
|
CA364641618 rs1284885333 |
193 | Q>L | No |
ClinGen TOPMed |
|
rs1276550387 CA364641627 |
195 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs752579117 CA3901829 |
198 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1280945388 CA364641662 |
200 | K>E | No |
ClinGen gnomAD |
|
rs1562011766 CA364641667 |
200 | K>N | No |
ClinGen Ensembl |
|
CA364641680 rs1319602298 |
202 | N>T | No |
ClinGen gnomAD |
|
CA364641690 rs1196738291 CA364641691 |
203 | L>F | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 203 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs759463818 CA141879134 |
205 | A>G | No |
ClinGen Ensembl |
|
rs978297040 CA141878493 |
205 | A>P | No |
ClinGen TOPMed gnomAD |
|
CA3901853 rs370932587 |
207 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1230825 COSM1230826 CA364641729 rs1317171782 |
208 | V>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA364641725 rs1382324268 |
208 | V>I | No |
ClinGen gnomAD |
|
CA3901855 rs779744771 |
209 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746572464 CA3901856 |
210 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1180481429 CA364641747 |
211 | A>V | No |
ClinGen gnomAD |
|
rs1029122027 CA141879168 |
212 | Q>P | No |
ClinGen TOPMed |
|
rs200060897 CA141879184 |
213 | E>K | No |
ClinGen gnomAD |
|
CA141879193 rs955610385 |
215 | F>L | No |
ClinGen Ensembl |
|
rs1212716656 CA364641771 |
215 | F>S | No |
ClinGen TOPMed |
|
CA141879202 rs865796322 |
216 | S>F | No |
ClinGen Ensembl |
|
rs770461559 CA3901860 |
217 | G>D | No |
ClinGen ExAC gnomAD |
|
CA3901859 rs748719753 |
217 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA364641792 rs1278547079 |
219 | L>F | No |
ClinGen TOPMed |
|
CA3901861 rs201291359 |
219 | L>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA3901862 rs763183104 |
220 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA3901863 rs374261143 |
221 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA364641802 rs1399060216 |
221 | H>Y | No |
ClinGen TOPMed |
|
rs1243462256 CA364641808 |
222 | L>V | No |
ClinGen gnomAD |
|
CA3901864 rs774728669 |
223 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3901865 rs759629265 |
223 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA3901866 rs763982055 |
224 | N>S | No |
ClinGen ExAC gnomAD |
|
CA3901867 rs763982055 |
224 | N>T | No |
ClinGen ExAC gnomAD |
|
CA364641826 rs1466374113 |
225 | R>G | No |
ClinGen TOPMed |
|
CA3901868 rs377726791 |
225 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
rs985195988 CA141879270 |
227 | N>K | No |
ClinGen TOPMed gnomAD |
|
rs371130809 CA3901869 |
228 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA141879282 rs750351998 |
231 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3901870 rs750351998 |
231 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA141879322 rs989385425 |
232 | R>G | No |
ClinGen Ensembl |
|
TCGA novel | 233 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1477513887 CA364641883 |
233 | G>E | No |
ClinGen TOPMed |
|
CA141879325 rs200827307 |
236 | T>A | No |
ClinGen gnomAD |
|
CA364641913 rs1259938544 |
238 | A>T | No |
ClinGen TOPMed |
|
CA364641921 rs1259095781 |
239 | R>K | No |
ClinGen TOPMed gnomAD |
|
rs914916834 CA141879329 |
239 | R>S | No |
ClinGen TOPMed gnomAD |
|
CA364641922 rs1259095781 |
239 | R>T | No |
ClinGen TOPMed gnomAD |
|
CA3901873 rs751245021 |
241 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375558420 CA3901874 |
242 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3901875 rs780864953 |
243 | G>A | No |
ClinGen ExAC gnomAD |
|
rs1441940118 CA364641997 |
244 | E>K | No |
ClinGen TOPMed |
|
CA3901893 rs150274294 |
246 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs141417041 CA3901894 |
249 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201650148 CA3901895 |
250 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA3901896 rs145134547 |
253 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1260017521 CA364642139 |
254 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs1479283240 CA364642155 |
255 | Y>* | No |
ClinGen gnomAD |
|
CA3901897 rs189153762 |
255 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs199898922 CA364642159 |
256 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs368343290 CA3901900 |
256 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs368343290 CA3901899 |
256 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs199898922 CA3901898 |
256 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA364642171 rs1461818937 |
257 | N>I | No |
ClinGen gnomAD |
|
CA3901901 rs193272979 |
258 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA364642221 rs1405629645 |
261 | Q>E | No |
ClinGen gnomAD |
|
CA364642226 rs1302694600 |
261 | Q>H | No |
ClinGen gnomAD |
|
CA3901904 rs745996197 |
263 | N>D | No |
ClinGen ExAC |
|
rs1216481378 CA364642285 |
266 | K>E | Variant assessed as Somatic; 4.631e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA141879980 rs972413463 |
274 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA364642436 rs972413463 |
274 | V>L | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 275 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs145815187 CA3901922 |
276 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1562012507 CA364642489 |
278 | L>P | No |
ClinGen Ensembl |
|
rs1582090139 CA364642495 |
279 | L>V | No |
ClinGen Ensembl |
|
CA364642514 rs780129118 |
280 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364642509 rs1361340211 |
280 | N>S | No |
ClinGen gnomAD |
|
rs1327833754 CA364642530 |
281 | S>R | No |
ClinGen gnomAD |
|
CA364642539 rs1319384309 |
282 | P>L | No |
ClinGen gnomAD |
|
rs1290985303 CA364642536 |
282 | P>S | No |
ClinGen gnomAD |
|
rs931231327 CA141880010 |
283 | D>G | No |
ClinGen TOPMed |
|
TCGA novel | 283 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 283 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1242337078 CA364642569 |
284 | C>F | No |
ClinGen gnomAD |
|
TCGA novel | 284 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1346790448 CA364642582 |
285 | D>V | No |
ClinGen TOPMed |
|
rs768903901 CA3901926 |
286 | V>A | No |
ClinGen ExAC gnomAD |
|
rs758287992 CA3901927 |
288 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1256525948 CA364642628 |
289 | D>G | No |
ClinGen TOPMed |
|
CA364642626 rs1245281728 |
289 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA364642638 rs1273731372 |
290 | D>N | No |
ClinGen gnomAD |
|
CA3901929 rs543283063 |
295 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA3901930 rs774160816 |
296 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3901931 rs759469255 |
297 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA141880037 rs759469255 |
297 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771514849 CA3901932 |
298 | K>E | No |
ClinGen ExAC gnomAD |
|
rs770654454 CA3901949 |
301 | T>I | No |
ClinGen ExAC gnomAD |
|
rs770654454 CA364643853 |
301 | T>N | No |
ClinGen ExAC gnomAD |
|
CA364643876 rs1582091298 |
302 | S>F | No |
ClinGen Ensembl |
|
CA364643882 rs1284768524 |
303 | R>G | No |
ClinGen gnomAD |
|
rs745620512 CA3901951 |
303 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3901952 rs772097975 |
304 | S>L | No |
ClinGen ExAC gnomAD |
|
CA364643915 rs1246168569 |
305 | E>K | No |
ClinGen gnomAD |
|
rs760331674 CA3901954 COSM1081917 COSM1596499 |
307 | R>Q | endometrium Variant assessed as Somatic; 4.653e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA3901956 rs776441338 |
309 | L>F | No |
ClinGen ExAC gnomAD |
|
rs761475326 CA3901957 |
310 | V>F | No |
ClinGen ExAC gnomAD |
|
rs887912168 CA141881140 |
311 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA3901959 rs750836089 |
312 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1276558518 CA364644080 |
314 | S>F | No |
ClinGen TOPMed |
|
TCGA novel | 314 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3901960 rs148971862 |
316 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA141881182 rs1003243926 |
318 | G>E | No |
ClinGen TOPMed |
|
CA3901962 rs370307286 |
319 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA364644179 rs1224438929 |
320 | D>N | No |
ClinGen Ensembl |
|
rs755056087 CA3901963 |
321 | S>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 322 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3901980 rs763443323 |
330 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364644426 rs1358796410 |
332 | N>D | No |
ClinGen gnomAD |
|
CA364644429 rs1208180715 |
332 | N>S | No |
ClinGen gnomAD |
|
CA141882308 rs113049830 |
333 | S>G | No |
ClinGen gnomAD |
|
rs1243624938 CA364644439 |
333 | S>R | No |
ClinGen TOPMed |
|
rs1447855404 CA364644440 |
334 | H>N | No |
ClinGen gnomAD |
|
TCGA novel | 336 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3901981 rs766664618 |
338 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1188347192 CA364644472 |
338 | P>T | No |
ClinGen TOPMed |
|
rs1276859759 CA364644484 |
340 | V>L | No |
ClinGen TOPMed |
|
CA141882334 rs1027743661 |
343 | E>G | No |
ClinGen Ensembl |
|
rs774853711 CA3901982 |
343 | E>K | No |
ClinGen ExAC gnomAD |
|
rs759995763 CA3901983 |
344 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 344 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 344 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3901984 rs767981193 |
344 | K>R | No |
ClinGen ExAC gnomAD |
|
CA141882346 rs200901836 |
345 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs1161017053 CA364644531 |
347 | E>G | No |
ClinGen TOPMed gnomAD |
|
rs1456939019 CA364644528 |
347 | E>Q | No |
ClinGen gnomAD |
|
rs752869981 CA3901986 |
349 | I>T | No |
ClinGen ExAC gnomAD |
|
rs756132806 CA3901987 |
350 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764440902 CA3901988 |
352 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764440902 CA364644563 |
352 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1285242580 CA364644575 |
354 | I>K | No |
ClinGen TOPMed |
|
rs1454964783 COSM3784735 COSM3784734 CA364644572 |
354 | I>V | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1316313546 CA364644584 |
355 | T>I | No |
ClinGen gnomAD |
|
CA3901989 rs61735783 |
356 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3901990 rs199645793 |
360 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199645793 CA3901991 |
360 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3901993 rs755010075 |
361 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1204729678 CA364644634 |
363 | S>T | No |
ClinGen gnomAD |
|
CA3901995 rs747754489 |
365 | L>P | No |
ClinGen ExAC gnomAD |
|
CA3901994 rs781256573 |
365 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364644652 rs1243670930 |
366 | A>V | No |
ClinGen gnomAD |
|
CA364644676 rs1185337262 |
370 | E>K | No |
ClinGen gnomAD |
|
rs200662710 CA3902016 |
373 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA141886914 rs994039518 |
373 | E>K | No |
ClinGen Ensembl |
|
rs182726489 CA3902017 |
375 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA141886923 rs774928701 |
376 | E>G | No |
ClinGen TOPMed |
|
CA364645736 rs1347475436 |
378 | E>D | No |
ClinGen gnomAD |
|
COSM3697972 COSM3697973 rs1162243458 CA364645752 |
380 | P>A | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs746296225 CA3902019 |
381 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364645784 rs1311368817 |
382 | S>N | No |
ClinGen gnomAD |
|
rs1230852592 CA364645796 |
383 | N>D | No |
ClinGen gnomAD |
|
rs1388139099 CA364645816 |
384 | Q>P | No |
ClinGen TOPMed gnomAD |
|
rs368838577 COSM1081921 COSM1596498 CA3902021 |
386 | Q>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 391 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs776075114 CA3902023 |
394 | E>V | No |
ClinGen ExAC gnomAD |
|
CA3902025 rs768808118 |
395 | C>F | No |
ClinGen ExAC gnomAD |
|
rs761034842 CA3902024 |
395 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs61735782 CA3902026 |
396 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA364646013 rs1374126913 |
400 | P>R | No |
ClinGen gnomAD |
|
rs1173069682 CA364646012 |
400 | P>S | No |
ClinGen gnomAD |
|
TCGA novel | 401 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 401 | A>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs761965510 CA3902027 |
401 | A>G | No |
ClinGen ExAC gnomAD |
|
CA364646016 rs1481343179 |
401 | A>T | No |
ClinGen TOPMed |
|
rs148231017 CA3902028 |
402 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA364646051 rs1562017808 |
406 | H>D | No |
ClinGen Ensembl |
|
CA3902031 rs188887854 |
408 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs752704358 CA3902032 |
410 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3902034 rs777743321 |
413 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3902036 rs141520128 |
414 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs141520128 CA3902035 |
414 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3902037 rs778540061 COSM1081923 COSM1154708 |
414 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs547856836 CA141887002 |
418 | T>I | No |
ClinGen 1000Genomes TOPMed |
|
CA364646232 rs547856836 |
418 | T>K | No |
ClinGen 1000Genomes TOPMed |
|
TCGA novel | 419 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs745463615 CA3902038 |
419 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1376319319 CA364646541 |
420 | Q>R | No |
ClinGen gnomAD |
|
CA3902065 rs773385884 |
422 | H>R | No |
ClinGen ExAC gnomAD |
|
rs770018604 CA3902064 |
422 | H>Y | No |
ClinGen ExAC |
|
CA364646622 rs1226208659 |
425 | F>L | No |
ClinGen TOPMed gnomAD |
|
CA3902067 rs771116223 |
426 | E>K | No |
ClinGen ExAC gnomAD |
|
rs774627664 CA3902068 |
428 | P>R | No |
ClinGen ExAC gnomAD |
|
rs976509206 CA364646661 |
428 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs976509206 CA141888812 |
428 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs760389560 CA3902069 |
429 | V>A | No |
ClinGen ExAC gnomAD |
|
CA3902070 rs763889955 |
431 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1213808321 CA364646718 |
432 | V>F | No |
ClinGen TOPMed |
|
rs74677005 CA141888828 |
433 | S>* | No |
ClinGen TOPMed gnomAD |
|
rs74677005 CA364646734 |
433 | S>L | No |
ClinGen TOPMed gnomAD |
|
rs922312211 CA141888833 |
435 | Q>* | No |
ClinGen TOPMed |
|
rs1183068671 CA364646772 |
435 | Q>L | No |
ClinGen gnomAD |
|
CA141888840 rs373723443 |
439 | I>M | No |
ClinGen ESP TOPMed |
|
CA364646810 rs1471700231 |
439 | I>V | No |
ClinGen gnomAD |
|
CA364646835 rs1178855820 |
440 | S>L | No |
ClinGen gnomAD |
|
rs761696133 CA3902072 |
441 | T>I | No |
ClinGen ExAC gnomAD |
|
CA3902073 rs567403155 |
442 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs567403155 CA364646858 |
442 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749981250 CA3902074 |
445 | F>Y | No |
ClinGen ExAC gnomAD |
|
CA3902075 rs757916581 |
446 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1357425626 CA364646925 |
446 | D>N | No |
ClinGen gnomAD |
|
rs766016669 CA3902076 |
447 | P>R | No |
ClinGen ExAC gnomAD |
|
rs931459514 CA141888859 |
449 | S>F | No |
ClinGen Ensembl |
|
rs144749454 CA3902077 |
450 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA364647016 rs1237625949 |
451 | C>F | No |
ClinGen TOPMed |
|
rs1050439599 CA141888865 |
451 | C>R | No |
ClinGen Ensembl |
|
CA364647031 rs1373135808 |
452 | K>E | No |
ClinGen TOPMed |
|
rs1326415749 CA364647048 |
452 | K>R | No |
ClinGen TOPMed |
|
rs755314310 CA3902078 |
453 | T>A | No |
ClinGen ExAC gnomAD |
|
CA141888874 rs867273086 |
453 | T>I | No |
ClinGen Ensembl |
|
CA141888881 rs1044965914 |
455 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs376931234 CA3902079 |
455 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1277109339 CA364647108 |
456 | S>N | No |
ClinGen gnomAD |
|
CA364647124 rs1366561970 |
457 | N>S | No |
ClinGen gnomAD |
|
rs370218926 COSM1230823 CA141888892 COSM1230824 |
458 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
rs370218926 CA141888890 |
458 | T>P | No |
ClinGen ESP TOPMed |
|
CA364647179 rs1364787277 |
460 | D>G | No |
ClinGen TOPMed |
|
CA364647169 rs1251084014 |
460 | D>N | No |
ClinGen gnomAD |
|
rs1482131782 CA364647219 |
462 | Y>* | No |
ClinGen gnomAD |
|
CA3902081 rs756727109 |
463 | M>V | No |
ClinGen ExAC gnomAD |
|
CA3902082 rs112880049 |
464 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1478230933 CA364647249 |
464 | S>T | No |
ClinGen gnomAD |
|
rs544489952 CA3902096 |
469 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA364647299 rs1402074591 |
470 | V>L | No |
ClinGen TOPMed |
|
TCGA novel | 472 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1341585680 CA364647319 |
473 | N>H | No |
ClinGen TOPMed |
|
CA141889399 rs191381064 |
474 | D>E | No |
ClinGen 1000Genomes |
|
COSM95417 CA364647326 rs1447124383 |
474 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA3902098 rs751194719 |
475 | F>L | No |
ClinGen ExAC gnomAD |
|
rs767247672 CA3902100 |
476 | P>L | No |
ClinGen ExAC gnomAD |
|
rs759190571 CA3902099 |
476 | P>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 477 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1294162290 CA364647345 |
477 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs753161549 CA3902101 |
478 | A>T | No |
ClinGen ExAC gnomAD |
|
rs199565621 CA3902102 |
480 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs778429201 CA3902103 |
481 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1436331076 CA364647373 |
481 | L>S | No |
ClinGen gnomAD |
|
TCGA novel | 482 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3902104 rs754311204 |
483 | T>A | No |
ClinGen ExAC gnomAD |
|
CA141889422 rs757305495 |
484 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3902105 rs757305495 |
484 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1001925787 CA364647411 |
487 | Q>H | No |
ClinGen TOPMed |
|
rs1355774310 CA364647409 |
487 | Q>R | No |
ClinGen gnomAD |
|
CA364647413 rs1208242863 |
488 | P>T | No |
ClinGen gnomAD |
|
CA141889432 rs1054771533 |
490 | C>G | No |
ClinGen TOPMed gnomAD |
|
rs979040862 CA141889438 |
494 | Q>E | No |
ClinGen Ensembl |
|
CA3902107 rs745902594 |
495 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs772325809 CA3902108 |
496 | H>P | No |
ClinGen ExAC gnomAD |
|
rs139605395 CA3902110 |
499 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 499 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3902111 rs769516769 |
500 | A>D | No |
ClinGen ExAC gnomAD |
|
rs1191280219 CA364647497 |
500 | A>T | No |
ClinGen TOPMed |
|
rs773040133 CA3902112 |
502 | P>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 504 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 505 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA141889466 rs200609571 |
506 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1413807388 CA364647545 |
507 | Q>R | No |
ClinGen gnomAD |
|
rs775303379 CA3902136 |
508 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1256503280 CA364648117 |
512 | S>P | No |
ClinGen gnomAD |
|
CA3902138 rs760362405 |
513 | S>L | No |
ClinGen ExAC gnomAD |
|
rs866971521 CA141891189 |
514 | A>E | No |
ClinGen Ensembl |
|
rs777100194 CA3902140 |
514 | A>T | No |
ClinGen ExAC gnomAD |
|
CA3902141 rs762067127 |
515 | N>D | No |
ClinGen ExAC gnomAD |
|
rs56007972 CA3902142 |
515 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs56007972 CA364648174 |
515 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA364648210 rs1392514269 |
517 | C>G | No |
ClinGen TOPMed |
|
rs144229618 CA3902144 |
519 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA3902146 rs200239131 |
523 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364648454 rs1483341123 |
531 | I>M | No |
ClinGen TOPMed |
|
TCGA novel | 532 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1429245362 CA364648501 COSM389581 COSM3411303 |
534 | G>E | lung central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA3902149 rs781251041 |
537 | S>G | No |
ClinGen ExAC gnomAD |
|
CA141891232 rs183642720 |
538 | K>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA364648844 rs1249050722 |
542 | V>L | No |
ClinGen gnomAD |
|
CA364648857 rs1582112282 |
544 | N>D | No |
ClinGen Ensembl |
|
CA141892852 rs922357788 |
549 | I>L | No |
ClinGen TOPMed gnomAD |
|
rs922357788 CA364648897 |
549 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA364648906 rs1415994902 |
550 | Y>C | No |
ClinGen gnomAD |
|
rs560320481 CA3902179 |
551 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1164311405 CA364648921 |
552 | I>M | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 553 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs55988913 CA3902180 |
554 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 555 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA364648947 rs767981089 |
556 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3902182 rs767981089 |
556 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3902183 rs532047071 |
560 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs182107453 CA141892865 |
561 | D>G | No |
ClinGen 1000Genomes gnomAD |
|
CA141892868 rs182107453 |
561 | D>V | No |
ClinGen 1000Genomes gnomAD |
|
rs866301407 CA141892874 |
562 | N>D | No |
ClinGen Ensembl |
|
CA364649007 rs1287066981 |
565 | L>F | No |
ClinGen gnomAD |
|
TCGA novel | 565 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA364649022 rs1380677129 |
567 | S>N | No |
ClinGen gnomAD |
|
rs1562024331 CA364649034 |
568 | Y>* | No |
ClinGen Ensembl |
|
CA3902184 rs201042481 |
569 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA141892880 rs1041923854 |
569 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
COSM168487 CA3902186 rs773610148 COSM1596533 |
571 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
TCGA novel | 572 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA364649064 rs1174646561 |
573 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA364649060 rs1269120787 |
573 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA3902187 rs763281952 |
576 | N>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 577 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs771485877 CA3902188 |
577 | K>T | No |
ClinGen ExAC gnomAD |
|
CA3902191 rs767444929 |
579 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs903330524 CA141892907 |
581 | H>D | No |
ClinGen Ensembl |
|
CA141892911 rs61738280 COSM3430903 COSM3430904 |
582 | S>G | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
CA141892915 rs55951238 |
583 | D>A | No |
ClinGen Ensembl |
|
CA364649129 rs1254190060 |
583 | D>N | No |
ClinGen gnomAD |
|
CA3902192 rs369548504 |
585 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA141892922 rs186705357 |
586 | I>F | No |
ClinGen 1000Genomes |
|
CA141892928 rs936242020 |
586 | I>M | No |
ClinGen gnomAD |
|
rs760846337 CA3902193 |
586 | I>T | No |
ClinGen ExAC gnomAD |
|
rs764385212 CA3902194 |
587 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750297262 CA3902195 COSM197053 |
587 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA3902196 rs758261126 |
588 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA364649157 rs1360890215 |
588 | L>I | No |
ClinGen gnomAD |
|
rs751549680 CA3902216 |
592 | E>A | No |
ClinGen ExAC gnomAD |
|
CA364649206 rs1233431626 |
593 | I>V | No |
ClinGen TOPMed |
|
rs1582112625 CA364649213 |
594 | T>A | No |
ClinGen Ensembl |
|
rs1005091833 CA141893027 |
594 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1219102759 CA364649220 |
595 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs767471019 CA3902218 |
596 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA3902219 rs556742505 |
597 | Y>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1362531121 CA364649242 |
598 | I>T | No |
ClinGen TOPMed |
|
rs191416444 CA3902221 |
599 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA364649249 rs1399462699 |
599 | Y>C | No |
ClinGen TOPMed |
|
rs1436234412 CA364649246 |
599 | Y>H | No |
ClinGen gnomAD |
|
TCGA novel COSM197054 rs757647603 CA3902223 |
600 | M>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC gnomAD NCI-TCGA |
rs748883691 CA3902222 |
600 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1358638673 CA364649285 |
604 | C>Y | No |
ClinGen TOPMed |
|
TCGA novel | 606 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3902225 rs746220162 |
607 | I>F | No |
ClinGen ExAC gnomAD |
|
CA3902226 rs574618987 |
607 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA3902227 rs540538876 |
609 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1369410864 CA364649368 |
611 | S>G | No |
ClinGen gnomAD |
|
rs747061200 CA3902228 |
611 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3902230 rs1801351 |
614 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3902231 rs762089919 |
615 | K>E | No |
ClinGen ExAC gnomAD |
|
CA3902232 rs765529954 |
615 | K>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 617 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3902233 rs774066834 |
618 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA3902234 rs759362914 |
619 | I>T | No |
ClinGen ExAC gnomAD |
|
rs767420588 CA3902235 |
621 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767420588 CA364649550 |
621 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1446086 COSM1446085 rs200822002 CA141893096 |
624 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
rs1260979404 COSM1446087 COSM1446088 CA364649604 |
624 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs1290908223 CA364649664 |
627 | Y>* | No |
ClinGen gnomAD |
|
rs1200695694 CA364649679 |
628 | W>* | No |
ClinGen TOPMed |
|
CA141893102 rs867898181 |
629 | K>E | No |
ClinGen Ensembl |
|
CA364649704 rs1212897510 |
629 | K>N | No |
ClinGen gnomAD |
|
CA364649721 rs1250918401 |
630 | N>K | No |
ClinGen TOPMed gnomAD |
|
CA141893105 rs975093444 |
631 | M>I | No |
ClinGen TOPMed gnomAD |
|
rs201661746 CA3902238 |
634 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
COSM1446089 CA3902239 COSM1446090 rs763552829 |
637 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA364649843 rs1254402872 |
638 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA364649860 rs1164609977 |
639 | H>Q | No |
ClinGen gnomAD |
|
CA3902241 rs756952502 |
639 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3902242 rs778614606 |
641 | H>R | No |
ClinGen ExAC gnomAD |
|
rs533668607 CA3902259 |
642 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs533668607 CA3902258 |
642 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 645 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1416665544 CA364650044 |
646 | S>R | No |
ClinGen gnomAD |
|
CA3902261 rs764798180 |
651 | A>G | No |
ClinGen ExAC gnomAD |
|
CA364650138 rs1354931603 |
653 | F>S | No |
ClinGen gnomAD |
|
CA141893608 rs920672186 |
655 | I>L | No |
ClinGen TOPMed |
|
CA3902262 rs750032024 |
656 | V>I | No |
ClinGen ExAC |
|
CA141893615 rs750032024 |
656 | V>L | No |
ClinGen ExAC |
|
CA364650220 CA141893623 rs1035835841 |
659 | M>I | No |
ClinGen gnomAD |
|
CA364650255 rs1257846328 |
662 | L>R | No |
ClinGen TOPMed |
|
CA364650259 rs1182028263 |
663 | I>V | No |
ClinGen TOPMed |
|
CA364650270 rs1228854582 |
664 | D>A | No |
ClinGen gnomAD |
|
TCGA novel | 664 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3902264 rs780429336 |
666 | G>V | No |
ClinGen ExAC gnomAD |
|
rs751945146 CA3902265 |
669 | N>K | No |
ClinGen ExAC gnomAD |
|
rs1348385222 CA364650306 |
669 | N>S | No |
ClinGen gnomAD |
|
CA3902266 rs755594526 |
670 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs1485087083 CA364650333 |
673 | P>A | No |
ClinGen gnomAD |
|
rs930668121 CA141893640 |
673 | P>R | No |
ClinGen TOPMed gnomAD |
|
CA3902267 rs781762318 |
674 | D>G | No |
ClinGen ExAC gnomAD |
|
CA364650357 rs1240997116 |
677 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1473114560 CA364650366 |
678 | V>F | No |
ClinGen gnomAD |
|
CA3902268 rs185300112 |
679 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs185300112 CA3902269 |
679 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA141893649 rs185300112 |
679 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs372645109 CA3902270 |
681 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA141893653 rs57363908 |
681 | D>N | No |
ClinGen Ensembl |
|
CA3902271 rs749479683 |
682 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 682 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1226778611 CA364650387 |
682 | S>T | No |
ClinGen TOPMed |
|
rs909226958 CA141893661 |
683 | Q>* | No |
ClinGen Ensembl |
|
rs777871742 CA3902290 |
685 | G>S | No |
ClinGen ExAC gnomAD |
|
CA3902291 rs749303494 |
687 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771241505 CA3902292 |
689 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs746807190 CA3902294 |
690 | M>L | No |
ClinGen ExAC gnomAD |
|
rs1299124272 CA364627833 |
692 | P>T | No |
ClinGen gnomAD |
|
CA364627844 rs1203947781 |
693 | E>G | No |
ClinGen TOPMed |
|
rs1463041126 CA364627847 |
694 | A>T | No |
ClinGen TOPMed |
|
rs1307590360 CA364627857 |
695 | I>T | No |
ClinGen gnomAD |
|
rs768378142 CA3902295 |
697 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776568921 CA3902296 |
698 | M>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 699 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs372900516 CA3902297 |
702 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
rs769590044 CA3902298 |
704 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772831205 CA3902299 |
705 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199764540 CA3902300 |
706 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 709 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA364628801 rs1187524521 |
711 | I>M | No |
ClinGen gnomAD |
|
CA364628858 rs1173453784 |
715 | S>G | No |
ClinGen TOPMed |
|
rs1420084218 CA364628905 |
718 | W>S | No |
ClinGen gnomAD |
|
CA141845553 rs917945629 |
719 | S>A | No |
ClinGen Ensembl |
|
rs770508314 CA3902321 |
720 | L>S | No |
ClinGen ExAC gnomAD |
|
rs940005678 CA141845554 |
720 | L>V | No |
ClinGen gnomAD |
|
rs1345780743 CA364628953 |
722 | C>Y | No |
ClinGen gnomAD |
|
rs774170186 CA3902322 |
723 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1390521116 CA364628986 |
724 | L>F | No |
ClinGen TOPMed |
|
CA3902323 rs150451663 |
726 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 726 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA364629002 rs1286546879 |
726 | Y>H | No |
ClinGen gnomAD |
|
TCGA novel | 727 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs775979132 CA3902325 |
730 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3902326 rs760942299 |
731 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1056924665 CA141845583 |
731 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA141845591 rs867949681 |
733 | P>Q | No |
ClinGen Ensembl |
|
TCGA novel | 736 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1237151385 CA364629166 |
737 | I>T | No |
ClinGen TOPMed |
|
rs141223517 CA3902329 |
738 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs141223517 CA3902328 |
738 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1257782523 CA364629235 |
742 | S>F | No |
ClinGen gnomAD |
|
TCGA novel | 742 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1210396536 CA364629256 |
744 | L>S | No |
ClinGen gnomAD |
|
CA3902330 rs757376723 |
744 | L>V | No |
ClinGen ExAC gnomAD |
|
rs765258198 CA364629267 |
745 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765258198 CA3902331 |
745 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 746 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA3902332 rs750468084 |
747 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1444364339 CA364629311 |
748 | I>T | No |
ClinGen gnomAD |
|
rs1184015262 CA364629332 |
750 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA141845642 rs1049369074 |
751 | N>H | No |
ClinGen Ensembl |
|
CA364629371 rs1228401098 |
753 | E>K | No |
ClinGen TOPMed |
|
rs200382179 CA3902333 |
757 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA364629444 rs2230512 |
758 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2230512 CA3902335 COSM197055 VAR_037142 |
758 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs1582117309 CA364629468 |
759 | I>S | No |
ClinGen Ensembl |
|
rs755802728 CA3902336 |
760 | P>L | No |
ClinGen ExAC gnomAD |
|
rs777964068 CA141845674 |
761 | E>A | No |
ClinGen Ensembl |
|
CA364629520 rs1311892415 |
763 | D>G | No |
ClinGen gnomAD |
|
CA3902337 rs777779837 |
764 | L>P | No |
ClinGen ExAC gnomAD |
|
CA364629552 rs1300826991 |
765 | Q>H | No |
ClinGen Ensembl |
|
CA364629546 rs1377756474 |
765 | Q>R | No |
ClinGen TOPMed |
|
CA364629574 rs1280462227 |
767 | V>E | No |
ClinGen gnomAD |
|
rs1411281840 CA364629568 |
767 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs1010370319 CA141845695 |
769 | K>M | No |
ClinGen TOPMed |
|
rs763018821 CA3902353 |
771 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1215363692 | 774 | R>G | Variant assessed as Somatic; 4.691e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
CA141846017 rs945817978 |
774 | R>G | No |
ClinGen TOPMed gnomAD |
|
rs923193250 CA141846041 |
775 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs1191023541 CA364629732 |
776 | P>S | No |
ClinGen TOPMed |
|
rs1202255666 CA364629794 |
780 | I>M | No |
ClinGen gnomAD |
|
rs368619103 CA3902354 |
781 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200871965 CA3902355 |
782 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA141846054 rs945237871 |
783 | P>A | No |
ClinGen TOPMed gnomAD |
|
rs755960167 CA3902356 |
784 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs753639607 CA3902358 |
787 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375013020 CA3902359 |
788 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
rs17849351 CA141846089 |
789 | P>Q | No |
ClinGen Ensembl |
|
rs1435699865 CA364629936 |
791 | V>I | No |
ClinGen TOPMed |
|
TCGA novel | 791 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs779778484 CA3902363 |
792 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs866800095 CA141846105 |
797 | P>R | No |
ClinGen Ensembl |
|
CA3902382 rs746504223 |
798 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780895297 CA3902384 |
804 | G>E | No |
ClinGen ExAC gnomAD |
|
CA3902385 rs748518043 |
809 | M>L | No |
ClinGen ExAC gnomAD |
|
rs748518043 CA364630345 |
809 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1390162506 CA364630397 |
811 | Y>C | No |
ClinGen TOPMed |
|
CA3902387 rs773730783 |
812 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA364630418 rs1429657653 |
813 | L>M | No |
ClinGen gnomAD |
|
rs749759214 CA3902388 |
814 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 814 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs774346835 CA3902390 |
817 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3902391 rs55901486 |
818 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs767635121 CA3902392 |
822 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs61735784 CA364630564 |
823 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV000888599 CA3902393 rs61735784 |
823 | N>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA364630594 rs1209675271 |
824 | S>Y | No |
ClinGen TOPMed |
|
rs1375011323 CA364630621 |
826 | L>S | No |
ClinGen gnomAD |
|
TCGA novel | 826 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs761719966 CA3902395 |
830 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA141846481 rs894905802 |
830 | K>I | No |
ClinGen Ensembl |
|
rs772138855 CA3902414 |
831 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1252769825 CA364631007 |
833 | Y>C | No |
ClinGen TOPMed gnomAD |
|
CA3902415 rs775882099 |
836 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775882099 CA364631031 |
836 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764389041 CA3902418 |
839 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs141280630 CA3902419 |
840 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3902420 rs762802143 |
841 | S>R | No |
ClinGen ExAC gnomAD |
|
CA364631072 rs1373913644 |
842 | H>Q | No |
ClinGen gnomAD |
|
rs766233509 CA3902421 |
842 | H>R | No |
ClinGen ExAC gnomAD |
|
CA3902422 rs751457789 |
844 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 844 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 845 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1397887316 CA364631115 |
849 | T>A | No |
ClinGen gnomAD |
|
rs752175870 CA3902428 |
851 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766975134 CA3902427 |
851 | E>K | No |
ClinGen ExAC TOPMed |
|
rs1384629564 CA364631145 |
853 | K>R | No |
ClinGen gnomAD |
|
rs539988632 COSM252896 CA3902430 |
854 | R>K | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 854 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs763254614 | 854 | R>G | Variant assessed as Somatic; 4.921e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1081942 rs755816263 CA3902429 COSM1154709 |
854 | R>G | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA3902432 rs757581628 |
855 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779307641 CA3902434 |
856 | K>R | No |
ClinGen ExAC gnomAD |
|
rs768996038 | 857 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs772671513 CA3902436 |
858 | K>C | No |
ClinGen ExAC TOPMed |
|
rs1467184173 CA364631178 |
858 | K>L | No |
ClinGen gnomAD |
No associated diseases with P33981
4 regional properties for P33981
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 525 - 791 | IPR000719 |
active_site | Serine/threonine-protein kinase, active site | 643 - 655 | IPR008271 |
binding_site | Protein kinase, ATP binding site | 531 - 553 | IPR017441 |
domain | Protein kinase Mps1 family, catalytic domain | 523 - 791 | IPR027084 |
Functions
Description | ||
---|---|---|
EC Number | 2.7.12.1 | Dual-specificity kinases (those acting on Ser/Thr and Tyr residues) |
Subcellular Localization |
|
|
PANTHER Family | PTHR22974 | MIXED LINEAGE PROTEIN KINASE |
PANTHER Subfamily | PTHR22974:SF21 | DUAL SPECIFICITY PROTEIN KINASE TTK |
PANTHER Protein Class |
non-receptor serine/threonine protein kinase
protein modifying enzyme |
|
PANTHER Pathway Category | No pathway information available |
5 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
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. |
spindle | The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
7 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
identical protein binding | Binding to an identical protein or proteins. |
kinetochore binding | Binding to a kinetochore, a proteinaceous structure on a condensed chromosome, beside the centromere, to which the spindle fibers are attached. |
protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
protein tyrosine kinase activity | Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
14 GO annotations of biological process
Name | Definition |
---|---|
chromosome segregation | The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. |
chromosome separation | The cell cycle process in which paired chromosomes are detached from each other. Chromosome separation begins with the release of cohesin complexes from chromosomes; in budding yeast, this includes the cleavage of cohesin complexes along the chromosome arms, followed by the separation of the centromeric regions. Chromosome separation also includes formation of chromatid axes mediated by condensins, and ends with the disentangling of inter-sister catenation catalyzed by topoisomerase II (topo II). |
female meiosis chromosome segregation | The cell cycle process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets during the meiotic cell cycle in a female. |
meiotic spindle assembly checkpoint signaling | A signal transduction process that contributes to a meiotic spindle assembly checkpoint, that delays the metaphase/anaphase transition of a meiotic cell cycle until the spindle is correctly assembled and chromosomes are attached to the spindle. |
mitotic spindle assembly checkpoint signaling | A signal transduction process that contributes to a mitotic cell cycle spindle assembly checkpoint, that delays the metaphase/anaphase transition of a mitotic nuclear division until the spindle is correctly assembled and chromosomes are attached to the spindle. |
mitotic spindle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle. |
peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
peptidyl-threonine phosphorylation | The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
positive regulation of pathway-restricted SMAD protein phosphorylation | Any process that increases the rate, frequency or extent of pathway-restricted SMAD protein phosphorylation. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways. |
protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
protein localization to kinetochore | Any process in which a protein is transported to, or maintained at, the kinetochore. |
protein localization to meiotic spindle midzone | A process in which a protein is transported to, or maintained in, a location within a meiotic spindle midzone. |
spindle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the spindle, the array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during DNA segregation and serves to move the duplicated chromosomes apart. |
3 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P35761 | Ttk | Dual specificity protein kinase TTK | Mus musculus (Mouse) | SS |
Q84VX4 | MPS1 | Serine/threonine-protein kinase MPS1 | Arabidopsis thaliana (Mouse-ear cress) | SS |
Q8AYG3 | ttk | Dual specificity protein kinase Ttk | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MESEDLSGRE | LTIDSIMNKV | RDIKNKFKNE | DLTDELSLNK | ISADTTDNSG | TVNQIMMMAN |
70 | 80 | 90 | 100 | 110 | 120 |
NPEDWLSLLL | KLEKNSVPLS | DALLNKLIGR | YSQAIEALPP | DKYGQNESFA | RIQVRFAELK |
130 | 140 | 150 | 160 | 170 | 180 |
AIQEPDDARD | YFQMARANCK | KFAFVHISFA | QFELSQGNVK | KSKQLLQKAV | ERGAVPLEML |
190 | 200 | 210 | 220 | 230 | 240 |
EIALRNLNLQ | KKQLLSEEEK | KNLSASTVLT | AQESFSGSLG | HLQNRNNSCD | SRGQTTKARF |
250 | 260 | 270 | 280 | 290 | 300 |
LYGENMPPQD | AEIGYRNSLR | QTNKTKQSCP | FGRVPVNLLN | SPDCDVKTDD | SVVPCFMKRQ |
310 | 320 | 330 | 340 | 350 | 360 |
TSRSECRDLV | VPGSKPSGND | SCELRNLKSV | QNSHFKEPLV | SDEKSSELII | TDSITLKNKT |
370 | 380 | 390 | 400 | 410 | 420 |
ESSLLAKLEE | TKEYQEPEVP | ESNQKQWQSK | RKSECINQNP | AASSNHWQIP | ELARKVNTEQ |
430 | 440 | 450 | 460 | 470 | 480 |
KHTTFEQPVF | SVSKQSPPIS | TSKWFDPKSI | CKTPSSNTLD | DYMSCFRTPV | VKNDFPPACQ |
490 | 500 | 510 | 520 | 530 | 540 |
LSTPYGQPAC | FQQQQHQILA | TPLQNLQVLA | SSSANECISV | KGRIYSILKQ | IGSGGSSKVF |
550 | 560 | 570 | 580 | 590 | 600 |
QVLNEKKQIY | AIKYVNLEEA | DNQTLDSYRN | EIAYLNKLQQ | HSDKIIRLYD | YEITDQYIYM |
610 | 620 | 630 | 640 | 650 | 660 |
VMECGNIDLN | SWLKKKKSID | PWERKSYWKN | MLEAVHTIHQ | HGIVHSDLKP | ANFLIVDGML |
670 | 680 | 690 | 700 | 710 | 720 |
KLIDFGIANQ | MQPDTTSVVK | DSQVGTVNYM | PPEAIKDMSS | SRENGKSKSK | ISPKSDVWSL |
730 | 740 | 750 | 760 | 770 | 780 |
GCILYYMTYG | KTPFQQIINQ | ISKLHAIIDP | NHEIEFPDIP | EKDLQDVLKC | CLKRDPKQRI |
790 | 800 | 810 | 820 | 830 | 840 |
SIPELLAHPY | VQIQTHPVNQ | MAKGTTEEMK | YVLGQLVGLN | SPNSILKAAK | TLYEHYSGGE |
850 | |||||
SHNSSSSKTF | EKKRGKK |