Q8TE68
PR
Gene name |
EPS8L1 (DRC3, EPS8R1, PP10566) |
Protein name |
Epidermal growth factor receptor kinase substrate 8-like protein 1 |
Names |
EPS8-like protein 1, Epidermal growth factor receptor pathway substrate 8-related protein 1, EPS8-related protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54869 |
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
3 structures for Q8TE68
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2K2M | NMR | - | A | 481-536 | PDB |
| 2ROL | NMR | - | A | 478-537 | PDB |
| AF-Q8TE68-F1 | Predicted | AlphaFoldDB |
787 variants for Q8TE68
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs574662019 CA310101178 |
2 | S>N | No |
ClinGen TOPMed |
|
|
rs1272720763 CA407443503 |
2 | S>R | No |
ClinGen gnomAD |
|
|
CA310101184 rs12609976 VAR_060375 |
4 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs776787535 CA310101192 |
5 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA407443591 rs1213325263 |
6 | G>D | No |
ClinGen TOPMed |
|
|
rs1473910277 CA407443578 |
6 | G>S | No |
ClinGen gnomAD |
|
|
CA407443769 rs1602908659 |
7 | P>L | No |
ClinGen Ensembl |
|
|
CA310102622 rs370970115 |
7 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407443783 rs1326118202 |
8 | E>D | No |
ClinGen gnomAD |
|
|
rs1273593186 CA407443779 |
8 | E>G | No |
ClinGen gnomAD |
|
|
rs1347866425 CA407443816 |
11 | P>L | No |
ClinGen gnomAD |
|
|
rs773770118 CA310102623 |
15 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759242005 CA310102643 |
16 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA310102658 rs764981549 |
17 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310102667 rs879535908 |
18 | I>T | No |
ClinGen Ensembl |
|
|
rs1394236301 CA407445547 |
21 | Q>H | No |
ClinGen gnomAD |
|
|
CA407445512 rs1163027566 |
21 | Q>P | No |
ClinGen gnomAD |
|
|
rs1602917253 CA407445562 |
22 | R>K | No |
ClinGen Ensembl |
|
|
rs142483011 CA310103634 |
23 | K>N | No |
ClinGen ESP |
|
|
rs1602917305 CA407445644 COSM1396479 |
24 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs762520768 CA407445649 |
24 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762520768 CA407445659 |
24 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762520768 CA407445653 |
24 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs957268169 CA310103639 |
25 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1425743761 CA407445803 |
28 | V>I | No |
ClinGen TOPMed |
|
|
CA407445877 rs1602917390 |
29 | V>A | No |
ClinGen Ensembl |
|
|
CA310103649 rs773912728 |
30 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs763659791 CA310103644 |
30 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA407445912 rs1190174582 |
30 | M>V | No |
ClinGen TOPMed |
|
|
CA310103666 rs761704061 |
32 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA310103677 rs755878715 |
33 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA310103673 rs146563100 |
33 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA310103675 rs146563100 |
33 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407446112 rs1375630695 |
34 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1375630695 CA407446107 |
34 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA407446277 rs1454861360 |
37 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1198977702 CA407446335 |
38 | V>I | No |
ClinGen gnomAD |
|
|
CA407446383 rs1479656052 |
39 | N>D | No |
ClinGen gnomAD |
|
|
CA310104533 rs528454656 |
40 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407446826 rs1350039361 CA407446834 |
40 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA310104540 rs373089208 |
43 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA407447009 rs1379081065 |
45 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs551816363 CA310104575 |
45 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA310104568 rs1046724900 |
45 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs770823875 CA310104578 |
46 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 47 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765127024 CA310104593 |
48 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA310104601 rs138787875 COSM1660271 |
50 | D>N | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA310104616 rs928860324 |
51 | G>C | No |
ClinGen TOPMed |
|
|
CA310104625 rs148360100 |
52 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs537780338 CA310104633 |
54 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1293931637 CA407447426 |
56 | E>G | No |
ClinGen gnomAD |
|
|
rs893321252 CA310104647 |
56 | E>K | No |
ClinGen TOPMed |
|
|
CA407447442 rs1372895946 |
57 | D>N | No |
ClinGen gnomAD |
|
|
rs757755507 CA407447538 |
58 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757755507 CA310104648 |
58 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377787291 CA407447551 |
59 | S>C | No |
ClinGen gnomAD |
|
|
rs1225492733 CA407447572 |
60 | R>K | No |
ClinGen gnomAD |
|
|
rs781515334 CA310104656 |
60 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs750948216 CA407447663 |
61 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310104691 rs756415571 |
62 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407447746 rs1275503369 |
63 | A>V | No |
ClinGen gnomAD |
|
|
CA310104706 rs780456664 |
64 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407447805 rs1392054692 |
65 | M>T | No |
ClinGen TOPMed |
|
|
rs1239274570 CA407447926 |
68 | Q>E | No |
ClinGen gnomAD |
|
|
rs1026518646 CA310104736 |
70 | R>* | No |
ClinGen TOPMed |
|
|
rs1026518646 CA407448016 |
70 | R>G | No |
ClinGen TOPMed |
|
|
CA310104738 COSM1644574 rs771753638 |
70 | R>Q | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs746455910 CA310104745 |
72 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407448089 CA407448094 rs1164970682 |
72 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs777316675 CA310104740 |
72 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs141351977 CA310104760 |
73 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141351977 CA310104776 |
73 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1466823222 CA407448150 |
74 | Q>* | No |
ClinGen TOPMed |
|
|
CA407448177 rs1260426994 |
75 | E>K | No |
ClinGen TOPMed |
|
|
rs1401006894 CA407448239 |
76 | M>I | No |
ClinGen gnomAD |
|
|
rs1568779835 CA407448265 |
78 | L>P | No |
ClinGen Ensembl |
|
|
CA310104827 COSM1396480 rs567891670 |
79 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA310104841 rs370375170 |
79 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA310104832 rs370375170 |
79 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA310104864 rs761736038 |
80 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA310104852 rs374610286 |
80 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1007496125 CA310104875 |
81 | S>A | No |
ClinGen TOPMed |
|
|
rs767652689 CA310104902 |
83 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767652689 CA310104881 |
83 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750883568 CA310104908 |
86 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs750883568 CA310104917 |
86 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA310104913 rs750883568 |
86 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA310104928 rs1018261677 |
87 | L>M | No |
ClinGen Ensembl |
|
|
CA310104938 rs143589639 |
88 | L>F | No |
ClinGen ESP gnomAD |
|
|
rs148068933 CA310104967 |
89 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746677729 CA310104968 |
90 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407448625 rs1188257963 |
90 | P>S | No |
ClinGen gnomAD |
|
|
rs745793450 CA310104972 |
92 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs745793450 CA407448699 |
92 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA407448717 rs1568780081 |
93 | K>E | No |
ClinGen Ensembl |
|
|
rs1411647169 CA407448732 |
93 | K>N | No |
ClinGen gnomAD |
|
|
rs866935004 CA407448982 |
97 | E>A | No |
ClinGen gnomAD |
|
|
rs866935004 CA310105321 |
97 | E>G | No |
ClinGen gnomAD |
|
|
rs1568780751 CA407448974 |
97 | E>K | No |
ClinGen Ensembl |
|
|
CA407449005 rs1237137783 |
98 | S>L | No |
ClinGen gnomAD |
|
|
rs1345045377 CA407449056 |
100 | P>A | No |
ClinGen gnomAD |
|
|
rs780074272 CA310105328 |
102 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407449113 rs1190817815 |
103 | A>G | No |
ClinGen gnomAD |
|
|
CA310105334 rs779706284 |
103 | A>S | No |
ClinGen gnomAD |
|
|
CA407449102 rs779706284 |
103 | A>T | No |
ClinGen gnomAD |
|
|
rs749255194 CA310105352 |
105 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310105363 rs1002975798 |
106 | R>C | No |
ClinGen TOPMed |
|
|
CA310105379 rs199714657 |
106 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1159391943 CA407449184 |
108 | D>G | No |
ClinGen gnomAD |
|
|
CA310105391 rs937959838 |
109 | A>T | No |
ClinGen Ensembl |
|
|
rs1318160508 CA407449230 |
111 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1399146856 CA407449223 |
111 | M>V | No |
ClinGen gnomAD |
|
|
rs1301794674 CA407449278 |
114 | G>D | No |
ClinGen gnomAD |
|
|
CA407449272 rs1443769450 |
114 | G>R | No |
ClinGen gnomAD |
|
|
rs1368186451 CA407449313 |
116 | S>R | No |
ClinGen gnomAD |
|
|
CA310105418 rs760706669 |
123 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs375136267 CA310105402 |
123 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407449428 rs1453705014 |
124 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA407449443 rs1182676663 |
125 | Q>R | No |
ClinGen gnomAD |
|
|
rs1468851996 CA407449460 |
126 | E>A | No |
ClinGen gnomAD |
|
|
CA407449453 rs1365602115 |
126 | E>K | No |
ClinGen gnomAD |
|
|
rs760145394 CA310105442 |
128 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777063967 CA310105430 |
128 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760145394 CA407449488 |
128 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs898857694 CA407449497 |
129 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs898857694 CA407449496 |
129 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs928945671 CA310105458 |
129 | R>H | No |
ClinGen gnomAD |
|
|
rs898857694 CA310105455 |
129 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA407449507 rs765513309 |
130 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310105466 rs765513309 |
130 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392449184 CA407449515 |
130 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA310105471 rs890221853 |
132 | P>S | No |
ClinGen Ensembl |
|
|
CA310105480 rs200577842 |
133 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407451156 rs200577842 |
133 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407451204 rs1278518283 |
134 | V>M | No |
ClinGen gnomAD |
|
|
CA407451261 rs1234964957 |
135 | H>N | No |
ClinGen gnomAD |
|
|
CA407451263 rs1271007586 |
135 | H>P | No |
ClinGen gnomAD |
|
|
CA407451305 rs1205191055 |
137 | F>L | No |
ClinGen gnomAD |
|
|
CA310105483 rs1051532100 |
137 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA407451408 rs371608469 |
139 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371608469 CA310105497 |
139 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407451497 rs1436085091 |
141 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 141 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA310105514 rs910325351 |
141 | R>P | No |
ClinGen TOPMed |
|
|
CA310105544 rs1000425571 |
143 | G>E | No |
ClinGen TOPMed |
|
|
rs943045718 CA310105534 CA407451557 |
143 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA310106399 rs201364329 |
144 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs201364329 CA310106404 |
144 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs201364329 CA407452539 |
144 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA310106415 rs772569334 |
145 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA310106412 rs748486129 |
145 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs571265611 CA310106429 |
146 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571265611 CA407452601 |
146 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407452581 rs1296501855 |
146 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs759168588 CA310106437 |
148 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs764798907 CA310106438 |
149 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310106454 rs774900113 |
152 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1568783035 CA407452732 |
152 | Q>R | No |
ClinGen Ensembl |
|
|
CA310106460 rs371109133 |
153 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407452764 rs371109133 |
153 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA310106459 rs762854320 |
153 | G>R | No |
ClinGen ExAC |
|
|
rs756975171 CA310106492 |
154 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374717243 CA407452777 |
154 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407452778 rs374717243 |
154 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374717243 CA310106489 |
154 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA310106493 rs756975171 |
154 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750657865 CA310106498 |
155 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA310106499 rs756335268 |
155 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310106500 rs780163521 |
156 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310106503 rs749335095 |
157 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1420202171 CA407452911 |
158 | Y>* | No |
ClinGen gnomAD |
|
|
CA310106510 rs755141197 |
159 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1168506443 CA407452939 |
159 | R>H | No |
ClinGen gnomAD |
|
|
rs138527968 CA310106523 |
160 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772471747 CA310106528 |
160 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1256955529 CA407453002 |
161 | G>V | No |
ClinGen TOPMed |
|
|
rs1447691760 CA407453013 |
162 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1364744464 CA407453020 |
163 | G>R | No |
ClinGen gnomAD |
|
|
rs777385078 CA310106559 |
164 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 165 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA310106564 rs769379052 |
166 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261522126 CA407453110 |
166 | R>W | No |
ClinGen TOPMed |
|
|
rs775228671 CA310106565 |
167 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199851574 CA310106568 |
167 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1308439188 CA407453145 |
168 | A>E | No |
ClinGen gnomAD |
|
|
CA310106573 rs763596957 |
168 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA407453152 rs1308439188 |
168 | A>V | No |
ClinGen gnomAD |
|
|
CA407453204 rs1186628488 |
171 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1568784207 CA407453427 |
172 | A>T | No |
ClinGen Ensembl |
|
|
rs139759863 CA310106883 |
172 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407453543 rs1327401375 |
176 | E>D | No |
ClinGen gnomAD |
|
|
CA310106906 rs1019152509 |
177 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs200865781 CA310106907 |
178 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310106919 rs760321845 |
179 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA310106915 rs773235252 |
179 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1468909170 CA407453693 |
180 | D>E | No |
ClinGen gnomAD |
|
|
rs1267220652 CA407453668 |
180 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1267220652 CA407453670 |
180 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs754101619 CA310106931 |
182 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs754101619 CA407453725 |
182 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA310106935 rs975056942 |
183 | P>L | No |
ClinGen gnomAD |
|
|
CA407453793 rs1471715816 |
184 | A>G | No |
ClinGen gnomAD |
|
|
CA310106941 rs1028655535 |
185 | A>T | No |
ClinGen TOPMed |
|
|
rs1463485213 CA407453841 |
186 | E>D | No |
ClinGen gnomAD |
|
|
rs1158979835 CA407453827 |
186 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs765376133 CA310106948 |
186 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA310106950 rs372090646 |
191 | Q>* | No |
ClinGen Ensembl |
|
|
rs866281732 CA310106953 |
193 | R>C | No |
ClinGen gnomAD |
|
|
CA407453982 rs752871182 |
194 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310106965 rs752871182 |
194 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758526621 CA310106970 |
195 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407454069 rs1407607560 |
197 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA407454073 rs1287551008 |
197 | R>H | No |
ClinGen gnomAD |
|
|
rs1407607560 CA407454064 |
197 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752107713 CA310106988 |
199 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 200 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263558871 CA407454180 |
202 | T>I | No |
ClinGen gnomAD |
|
|
rs1376980618 CA407454194 |
203 | V>A | No |
ClinGen gnomAD |
|
|
rs1196498868 CA407454201 |
204 | E>K | No |
ClinGen gnomAD |
|
|
CA407454304 rs757501052 |
205 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA310106993 rs757501052 |
205 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA310106991 rs757501052 |
205 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA310106999 rs748912216 |
206 | G>D | No |
ClinGen ExAC TOPMed |
|
|
CA407454311 rs1482230594 |
206 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1482230594 CA407454308 |
206 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs9087 CA310107020 |
208 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407454343 rs1476367084 |
208 | G>S | No |
ClinGen gnomAD |
|
|
CA407454384 rs1462913416 |
209 | R>C | No |
ClinGen gnomAD |
|
|
CA310107024 rs747574392 |
209 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs771617599 CA310107037 |
211 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771617599 CA407454424 |
211 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306983914 CA407454576 |
216 | P>S | No |
ClinGen gnomAD |
|
|
rs1472185963 CA407454614 |
217 | I>T | No |
ClinGen TOPMed |
|
|
rs1355882603 CA407454657 |
218 | P>L | No |
ClinGen gnomAD |
|
|
rs1602933191 CA407454625 |
218 | P>S | No |
ClinGen Ensembl |
|
|
CA407454663 rs560414853 |
219 | E>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs560414853 CA310107040 |
219 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA407454661 rs560414853 |
219 | E>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA310107045 rs760726522 |
220 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA407454791 rs1194916337 |
223 | A>T | No |
ClinGen TOPMed |
|
|
CA407454811 rs1228049422 |
224 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 224 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276882671 CA407454852 |
225 | R>K | No |
ClinGen gnomAD |
|
|
CA407454946 rs1290953874 |
227 | E>G | No |
ClinGen gnomAD |
|
|
COSM1148238 CA407454966 rs1204740924 |
228 | P>A | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1204740924 CA407454967 |
228 | P>S | No |
ClinGen gnomAD |
|
|
CA407455030 rs1199131204 |
230 | G>R | No |
ClinGen gnomAD |
|
|
rs1429684945 CA407455089 |
231 | T>I | No |
ClinGen gnomAD |
|
|
CA407455105 rs1429684945 |
231 | T>N | No |
ClinGen gnomAD |
|
|
CA310107101 rs751994711 |
234 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757847122 CA310107102 |
235 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs767848686 CA310107104 |
237 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA310107123 rs756505584 |
238 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407455354 rs1364706426 |
239 | S>F | No |
ClinGen TOPMed |
|
|
rs1431803453 CA407455332 |
239 | S>T | No |
ClinGen TOPMed |
|
|
CA310107167 rs777409606 |
240 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777409606 CA310107151 |
240 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs757834274 CA310107146 |
240 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs771039756 CA310107174 |
241 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs571293312 CA310107175 |
243 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1314228559 CA407455513 |
243 | G>D | No |
ClinGen gnomAD |
|
|
CA310107185 rs769714898 |
244 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA310107179 rs745617736 |
244 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310107215 rs775513640 |
245 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310107195 rs775513640 |
245 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407455556 rs1486358061 |
245 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs767975529 CA407455594 |
246 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774527274 CA310107244 |
246 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310107274 rs767975529 |
246 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774527274 CA407455586 |
246 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310107232 rs774527274 |
246 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310107284 rs750936656 |
247 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407455792 rs1434559171 |
249 | L>M | No |
ClinGen gnomAD |
|
|
CA310107288 rs756413444 |
249 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA407455793 rs1434559171 |
249 | L>V | No |
ClinGen gnomAD |
|
|
rs1376890222 CA407455867 |
250 | A>E | No |
ClinGen gnomAD |
|
|
CA310107302 rs1047071079 |
251 | V>I | No |
ClinGen gnomAD |
|
|
rs1386408950 CA407455971 |
253 | Q>R | No |
ClinGen gnomAD |
|
|
rs887192665 CA310107324 |
254 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 254 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375525680 CA310107340 |
256 | R>G | No |
ClinGen Ensembl |
|
|
rs752289289 CA310107347 |
256 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs777123821 CA310107363 |
257 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1040240918 CA310107357 |
257 | E>K | No |
ClinGen gnomAD |
|
|
rs1266621987 CA407456166 |
258 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA310107373 rs201518422 |
258 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407456155 rs201518422 |
258 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310107764 rs140114807 |
260 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA310107758 rs140114807 |
260 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1056665689 COSM3787792 CA310107770 COSM3787793 |
263 | H>R | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA407456628 rs1206888306 |
263 | H>Y | No |
ClinGen gnomAD |
|
|
CA310107787 rs996425647 |
265 | F>C | No |
ClinGen TOPMed |
|
|
CA407456847 COSM302149 rs1471777531 |
266 | D>E | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA407456780 rs1238975024 |
266 | D>Y | No |
ClinGen gnomAD |
|
|
rs1181147819 CA407456942 |
267 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA310107799 rs369806627 |
268 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770704955 CA310107820 COSM1305111 COSM1305110 |
269 | E>Q | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs771419251 CA310107825 |
270 | S>R | No |
ClinGen ExAC |
|
|
CA407457079 rs1451359296 |
272 | V>A | No |
ClinGen gnomAD |
|
|
CA310107834 COSM1001373 COSM1590307 rs759877595 |
273 | S>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA310107830 rs777033748 |
273 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA310107879 rs767102471 |
276 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs749998916 CA310107880 |
276 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA407457273 rs1602936894 |
279 | A>G | No |
ClinGen Ensembl |
|
|
CA310107894 rs149832234 |
279 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1274672275 CA407457288 |
280 | E>K | No |
ClinGen TOPMed |
|
|
rs893059594 CA310107899 |
280 | E>V | No |
ClinGen Ensembl |
|
|
rs1294762906 CA407457401 |
284 | V>E | No |
ClinGen gnomAD |
|
|
CA310107902 CA407457397 rs753735932 |
284 | V>L | No |
ClinGen ExAC TOPMed |
|
|
rs754793066 CA310107906 |
285 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1280484632 CA407457438 |
286 | E>* | No |
ClinGen gnomAD |
|
|
CA310107915 rs1620074 VAR_060376 |
288 | R>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1671162 CA310107933 |
288 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA310107919 rs1671162 |
288 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1620074 CA407457503 |
288 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407457531 rs1186827355 |
289 | E>G | No |
ClinGen gnomAD |
|
|
CA310107944 rs777137091 |
289 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 290 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA310107953 rs770186711 |
291 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 292 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 292 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174466893 CA407457614 |
293 | R>G | No |
ClinGen gnomAD |
|
|
rs368937566 CA310107984 |
294 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767227239 CA310107998 CA407457681 |
294 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368937566 CA310107991 |
294 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs967448534 CA310108005 |
295 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs967448534 CA310108003 |
295 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA310108007 rs1002653145 |
296 | R>G | No |
ClinGen Ensembl |
|
|
CA407457716 rs1035859078 |
297 | R>G | No |
ClinGen gnomAD |
|
|
rs1433513027 CA407457733 |
297 | R>Q | No |
ClinGen gnomAD |
|
|
CA310108013 rs1035859078 |
297 | R>W | No |
ClinGen gnomAD |
|
|
CA407457740 rs1317975602 |
298 | A>T | No |
ClinGen gnomAD |
|
|
rs773005274 CA310108016 |
298 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA407457771 rs1173309373 |
299 | A>P | No |
ClinGen TOPMed |
|
|
CA310108030 rs760177785 |
300 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188715649 CA407458044 |
301 | E>D | No |
ClinGen gnomAD |
|
|
COSM1590306 rs1342413310 COSM1001375 CA407457827 |
301 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA310108284 rs1000469249 |
302 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA407458048 rs1366355163 |
302 | G>S | No |
ClinGen TOPMed |
|
|
rs776379223 CA310108286 |
304 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA310108287 rs538588765 |
305 | T>M | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1027194723 CA310108288 |
306 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs952838328 CA310108289 |
307 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA310108292 rs758902291 |
308 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405349800 CA407458213 |
308 | A>P | No |
ClinGen gnomAD |
|
|
rs1290749047 CA407458278 |
309 | K>R | No |
ClinGen TOPMed |
|
|
rs1568788394 CA407458319 |
310 | P>L | No |
ClinGen Ensembl |
|
|
rs866334640 CA310108301 |
310 | P>S | No |
ClinGen Ensembl |
|
|
rs763840536 CA310108311 |
311 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA310108307 rs148596546 |
311 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA310108304 rs148596546 |
311 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA310108322 rs751356074 |
312 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 312 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262903857 CA407458389 |
313 | E>G | No |
ClinGen gnomAD |
|
|
rs552338158 CA310108335 |
314 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA310108337 rs750674199 |
314 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs977161548 CA407458408 |
315 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs977161548 CA310108338 |
315 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA310108340 rs369451381 |
316 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA310108346 rs373200328 |
317 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1019834053 CA310108342 |
317 | T>P | No |
ClinGen TOPMed |
|
|
CA310108354 rs780350918 |
318 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs921241920 CA310108349 |
318 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA310108363 rs569003413 |
319 | V>L | No |
ClinGen 1000Genomes |
|
|
rs1203114550 CA407458530 |
321 | Q>* | No |
ClinGen gnomAD |
|
|
rs1457705820 CA407458581 |
323 | I>M | No |
ClinGen gnomAD |
|
|
rs1386567644 CA407458605 |
325 | Y>C | No |
ClinGen gnomAD |
|
|
CA310108381 rs932773398 |
326 | A>P | No |
ClinGen gnomAD |
|
|
CA310108383 rs755592194 |
327 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1283047947 CA407458633 |
327 | F>S | No |
ClinGen gnomAD |
|
|
CA310108402 rs989522737 |
330 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1182974694 CA407458834 |
331 | A>T | No |
ClinGen TOPMed |
|
|
CA310108590 rs142793216 |
332 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310108591 COSM131247 rs759634126 |
332 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA310108587 rs142793216 |
332 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1313728410 CA407458881 |
333 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 335 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407458947 rs753137308 |
335 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753137308 CA310108595 |
335 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310108598 rs758980287 |
335 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407460631 rs1319169925 |
336 | N>S | No |
ClinGen Ensembl |
|
|
CA310108599 rs764339121 |
337 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA407460679 rs1239179805 |
338 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1004402804 CA310108603 |
340 | P>R | No |
ClinGen gnomAD |
|
|
rs757649345 CA310108601 |
340 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1671161 CA310108609 |
343 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407460790 rs1671161 |
343 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310108617 rs748013705 |
346 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA407460867 rs1250809692 |
347 | H>N | No |
ClinGen gnomAD |
|
|
rs771997694 CA310108623 |
348 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs966023065 CA310108627 |
351 | G>R | No |
ClinGen gnomAD |
|
|
rs1175771575 CA407461000 |
352 | P>L | No |
ClinGen TOPMed |
|
|
rs746736812 CA310108630 |
352 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA310108633 rs770865983 |
354 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs759867067 CA310108656 CA407461082 |
355 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310108652 rs776977212 |
355 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA407461069 rs1268100934 |
355 | M>T | No |
ClinGen gnomAD |
|
|
rs767848343 CA310108786 |
357 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310108796 rs144463157 CA310108799 |
361 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310108803 rs144463157 |
361 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310108824 rs879785128 |
362 | G>E | No |
ClinGen Ensembl |
|
|
rs751507940 CA310108820 |
362 | G>R | No |
ClinGen ExAC gnomAD |
|
| rs746955003 | 363 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757306403 CA310108831 |
363 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs746955003 | 363 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407461418 rs757306403 |
363 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1602942496 CA407461466 |
365 | F>L | No |
ClinGen Ensembl |
|
|
rs1352320162 CA407461473 |
366 | A>S | No |
ClinGen gnomAD |
|
|
rs1352320162 CA407461470 |
366 | A>T | No |
ClinGen gnomAD |
|
|
rs781296942 CA310108839 |
368 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs769479363 CA310108843 |
370 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs532433618 CA310108840 |
370 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749529084 CA310108847 |
371 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs140279705 CA310108849 |
372 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407461598 rs140279705 |
372 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA310108848 rs140279705 |
372 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407461654 rs1254350922 |
375 | T>P | No |
ClinGen gnomAD |
|
|
COSM1251404 CA407461690 COSM1001377 rs1181674994 |
376 | S>L | Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA407461729 rs1602942910 |
378 | A>S | No |
ClinGen Ensembl |
|
|
rs761046514 CA407461756 |
379 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761046514 CA310108862 |
379 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407461782 rs1383066973 |
380 | A>E | No |
ClinGen gnomAD |
|
|
rs1311590789 CA407461770 |
380 | A>T | No |
ClinGen TOPMed |
|
|
rs1383066973 CA407461787 |
380 | A>V | No |
ClinGen gnomAD |
|
|
CA310108879 rs368638224 |
381 | L>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs775206133 CA310108888 |
383 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA310108882 rs775206133 |
383 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1398276998 CA407461827 |
383 | R>W | No |
ClinGen gnomAD |
|
|
rs762731662 CA310108895 |
385 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435080204 CA407461909 |
386 | V>A | No |
ClinGen TOPMed |
|
|
CA407461920 rs1568790614 |
387 | T>A | No |
ClinGen Ensembl |
|
|
rs1340968140 CA407461956 |
388 | P>L | No |
ClinGen gnomAD |
|
|
CA310108934 rs150360157 |
389 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310108938 rs998869339 |
389 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs998869339 CA310108944 |
389 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs998869339 CA310108942 |
389 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs150360157 CA310108931 |
389 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310108954 rs767421909 |
390 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs200080541 CA407462074 CA310108960 |
391 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310108964 rs755923265 |
392 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337803800 CA407462112 |
392 | E>A | No |
ClinGen gnomAD |
|
|
CA407462092 rs755923265 |
392 | E>K | Variant assessed as Somatic; 5.462e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1198899806 CA407462141 |
394 | W>R | No |
ClinGen gnomAD |
|
|
CA310108969 rs868104781 |
396 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 400 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1004081854 CA310108971 |
402 | T>A | No |
ClinGen TOPMed |
|
|
rs1004081854 CA310108970 |
402 | T>S | No |
ClinGen TOPMed |
|
|
rs749506229 CA407462292 |
403 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA407462296 rs1240663191 |
403 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA310108973 rs749506229 |
403 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA310108987 rs755146080 |
404 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA310108995 rs779137814 |
405 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1205553 COSM1205554 rs1275875453 CA407462310 |
405 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1422538027 CA407462524 |
409 | S>C | No |
ClinGen TOPMed |
|
|
rs1422538027 CA407462527 |
409 | S>F | No |
ClinGen TOPMed |
|
|
COSM1205557 rs750369259 CA407462546 COSM1205556 |
410 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA310109448 rs750369259 |
410 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310109449 rs756056730 |
414 | P>S | No |
ClinGen ExAC |
|
|
rs1302414755 CA407462662 |
416 | Y>* | No |
ClinGen gnomAD |
|
|
CA310109452 rs766364943 |
416 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 416 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753591027 CA310109456 |
419 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs754773147 CA310109471 |
422 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754773147 CA407462775 |
422 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310109472 rs779053221 |
423 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA310109474 rs748431954 |
424 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA310109476 rs1043313055 |
425 | E>* | No |
ClinGen Ensembl |
|
|
CA407462923 rs1261912660 |
426 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs548545431 COSM1396491 COSM1396492 CA310109481 |
427 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA407462933 rs1204148161 |
427 | P>S | No |
ClinGen gnomAD |
|
|
CA407462982 rs1379759914 |
429 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA407462984 rs1379759914 |
429 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs893813885 CA310109486 |
430 | D>E | No |
ClinGen TOPMed |
|
|
rs777758810 CA310109485 |
430 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA407463048 rs1395409984 |
431 | P>L | No |
ClinGen gnomAD |
|
|
CA310109488 rs747525982 |
432 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1472867582 CA407463070 |
433 | S>G | No |
ClinGen gnomAD |
|
|
rs867726353 CA310109491 |
433 | S>R | No |
ClinGen Ensembl |
|
|
CA407463109 rs1161388826 |
434 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA310109494 rs771291960 |
435 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA310109513 rs376963003 |
435 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA310109518 rs570936221 |
439 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774133419 CA310109550 |
440 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA310109544 rs770295670 |
440 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310109554 rs761622283 |
441 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1203636238 CA407463392 |
443 | Q>L | No |
ClinGen TOPMed |
|
|
rs1203636238 CA407463384 |
443 | Q>P | No |
ClinGen TOPMed |
|
|
CA407463454 rs1308551995 |
445 | Q>R | No |
ClinGen gnomAD |
|
|
rs1237671214 CA407463477 |
446 | H>P | No |
ClinGen gnomAD |
|
|
CA407463483 rs1292098121 |
446 | H>Q | No |
ClinGen gnomAD |
|
|
rs1237671214 CA407463479 |
446 | H>R | No |
ClinGen gnomAD |
|
|
rs1344911011 CA407463475 |
446 | H>Y | No |
ClinGen TOPMed |
|
|
rs760265716 CA310109557 |
447 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA310109566 rs201719809 |
448 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1178841128 CA407463552 |
450 | R>H | No |
ClinGen gnomAD |
|
|
CA310109586 rs765088412 |
451 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs765088412 CA310109582 |
451 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs556546069 CA310109598 |
452 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407464736 rs1481070564 |
453 | Q>* | No |
ClinGen gnomAD |
|
|
CA407464786 rs1602949386 |
454 | S>N | No |
ClinGen Ensembl |
|
|
rs762835165 CA310109694 |
454 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310109706 rs751816089 |
455 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs757270658 CA310109720 |
455 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1345479580 CA407464914 |
456 | P>L | No |
ClinGen gnomAD |
|
|
CA407464903 rs1335493568 |
456 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA407464901 rs1335493568 |
456 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
VAR_056870 CA310109726 rs1628576 |
457 | Q>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA310109728 rs780739177 |
457 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA310109737 rs777278984 |
458 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs749551506 CA310109733 |
458 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310109730 rs749551506 |
458 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545459960 CA310109738 |
459 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1284972531 CA407465043 COSM131248 |
459 | A>V | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA407465085 rs1448965339 |
461 | N>I | No |
ClinGen gnomAD |
|
|
CA407465080 rs1448965339 |
461 | N>S | No |
ClinGen gnomAD |
|
|
rs770400676 CA310109739 |
462 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761533849 CA407466725 |
464 | R>* | No |
ClinGen ExAC TOPMed |
|
|
CA407466733 COSM1148239 rs1422867495 |
464 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1568796696 CA633856512 |
465 | D>* | No |
ClinGen Ensembl |
|
|
rs767783138 CA9665967 |
467 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374515024 CA407466828 |
468 | P>T | No |
ClinGen gnomAD |
|
|
CA407466895 rs1474403984 |
471 | E>A | No |
ClinGen gnomAD |
|
|
rs773583998 CA9665968 |
472 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9665971 rs149098740 |
475 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9665972 rs755561747 |
475 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149098740 CA9665970 |
475 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9665973 rs765687699 |
476 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA310110428 rs900505148 |
476 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs900505148 CA407466992 |
476 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 479 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407467177 rs1175100039 |
482 | W>* | No |
ClinGen TOPMed |
|
|
CA407467210 rs1237517021 |
483 | V>G | No |
ClinGen TOPMed |
|
|
rs1324997015 CA407467202 |
483 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9665976 rs143190351 |
485 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 485 | C>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1602955296 CA407467261 |
486 | N>D | No |
ClinGen Ensembl |
|
|
CA9665977 rs745574933 |
487 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs377154234 CA310110440 |
488 | D>N | No |
ClinGen ESP |
|
|
CA9665978 rs755615733 |
488 | D>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1001379 COSM1590305 rs565451159 CA407467435 |
492 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA407467437 COSM1526400 rs1205313238 COSM1526401 |
492 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA407467440 rs1205313238 |
492 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9665981 rs565451159 |
492 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778722403 CA9665982 |
494 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230208959 CA407467493 |
496 | E>K | No |
ClinGen TOPMed |
|
|
CA407467523 rs1481343353 |
498 | S>P | No |
ClinGen gnomAD |
|
|
CA407467529 rs1283620950 |
499 | V>I | No |
ClinGen TOPMed |
|
|
CA9665986 rs183061773 |
500 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770895762 CA9665987 |
501 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1399858854 CA407467570 |
502 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM475290 rs1383036223 CA407467569 COSM1136248 |
502 | R>W | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs776727827 CA9665988 CA9665989 |
503 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9665990 rs138510611 |
504 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9665991 rs138510611 |
504 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372416841 CA407467605 |
506 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372416841 CA9665992 |
506 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407467694 rs1350321655 |
510 | D>Y | No |
ClinGen TOPMed |
|
|
rs759599842 CA9666006 |
511 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA407467721 rs1163744391 |
512 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9666007 rs370885910 |
512 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370885910 CA310110495 |
512 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9666008 rs370885910 |
512 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9666010 rs763489368 |
513 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292251314 CA407467734 |
513 | K>R | No |
ClinGen gnomAD |
|
|
CA9666012 rs573834907 |
514 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764417451 CA9666011 |
514 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1264865652 CA407467762 |
515 | W>G | No |
ClinGen gnomAD |
|
|
CA407467759 rs1264865652 |
515 | W>R | No |
ClinGen gnomAD |
|
|
rs766000158 CA9666014 |
517 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9666013 rs762114376 |
517 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs753492920 CA9666015 |
520 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1193216165 CA407467826 |
520 | P>S | No |
ClinGen TOPMed |
|
|
rs1193216165 CA407467822 |
520 | P>T | No |
ClinGen TOPMed |
|
|
rs1423206524 CA407467834 |
521 | A>P | No |
ClinGen gnomAD |
|
|
rs754509221 CA9666016 |
521 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs752662686 CA9666018 |
522 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1299411348 CA407467856 |
523 | Q>* | No |
ClinGen gnomAD |
|
|
CA407467868 rs1397434213 |
523 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1252823886 CA407467860 |
523 | Q>R | No |
ClinGen TOPMed |
|
|
rs758365359 CA9666019 |
524 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3404630 CA9666020 rs777892829 COSM3404631 |
525 | G>E | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA407467884 rs1315355991 |
525 | G>R | No |
ClinGen gnomAD |
|
|
CA407467960 rs1568797173 |
528 | P>R | No |
ClinGen Ensembl |
|
|
rs1308013365 CA407467982 |
529 | Y>C | No |
ClinGen gnomAD |
|
|
CA9666023 rs757013173 |
534 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs757013173 CA407468071 |
534 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9666025 rs746141609 |
535 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407468098 rs746141609 |
535 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666024 rs781459044 |
535 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407468094 rs746141609 |
535 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 536 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9666029 rs553471109 |
537 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769112126 CA9666030 |
538 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9666033 rs140692049 |
539 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9666032 rs371114379 |
539 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs908592052 CA310110539 |
540 | L>V | No |
ClinGen TOPMed |
|
|
rs1602955922 CA407468235 |
541 | H>P | No |
ClinGen Ensembl |
|
|
CA407468287 rs1434299508 |
543 | S>N | No |
ClinGen TOPMed |
|
|
rs1464706708 CA407468291 |
543 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA310110542 rs757224211 |
544 | Q>K | No |
ClinGen Ensembl |
|
|
rs776318347 CA9666034 |
546 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs545367219 CA9666035 |
546 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752217086 CA9666037 |
548 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs752217086 CA407468412 |
548 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs757991305 CA9666038 |
548 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs764068443 CA9666039 |
549 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666041 rs751602180 |
550 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435917965 CA407469141 |
552 | S>T | No |
ClinGen gnomAD |
|
|
rs1602956269 CA407469168 |
553 | T>P | No |
ClinGen Ensembl |
|
|
rs375093729 CA9666065 |
553 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1230428579 CA407469196 |
554 | P>L | No |
ClinGen gnomAD |
|
|
CA310110604 rs1033598413 |
554 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 555 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407469200 rs1285785313 |
555 | P>S | No |
ClinGen gnomAD |
|
|
CA407469232 rs1225145548 |
556 | P>T | No |
ClinGen gnomAD |
|
|
CA407469261 rs1451525880 |
557 | P>L | No |
ClinGen gnomAD |
|
|
rs368004644 CA9666068 |
558 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9666067 rs780191731 |
558 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407469306 rs1291076726 |
559 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1441184357 CA407469364 |
561 | A>S | No |
ClinGen gnomAD |
|
|
rs779016255 CA9666070 |
561 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs748282634 CA9666071 |
562 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748282634 CA407469412 |
562 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748282634 CA407469411 |
562 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407469437 rs1164764064 |
563 | A>V | No |
ClinGen gnomAD |
|
|
rs1165488601 CA407469510 |
565 | P>L | No |
ClinGen TOPMed |
|
|
rs973104187 CA310110612 |
565 | P>T | No |
ClinGen Ensembl |
|
|
rs772421947 CA9666072 |
567 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310110614 rs371497384 |
568 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA407469710 rs778351142 |
570 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778351142 CA9666076 |
570 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561254058 CA9666078 |
571 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407469774 rs561254058 |
571 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407469770 rs561254058 |
571 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA310110619 rs747283700 |
571 | P>S | No |
ClinGen ExAC TOPMed |
|
|
rs747283700 CA9666077 |
571 | P>T | No |
ClinGen ExAC TOPMed |
|
|
CA310110621 rs1017401421 |
572 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1248703336 CA407469797 |
572 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1248703336 CA407469801 |
572 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1555846386 CA407469824 |
573 | W>* | No |
ClinGen Ensembl |
|
|
CA407469882 rs1282717896 |
574 | D>Y | No |
ClinGen gnomAD |
|
|
rs775274701 CA9666079 |
575 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA407469945 rs1196836965 |
576 | P>T | No |
ClinGen gnomAD |
|
|
rs1458740002 CA407469967 |
577 | R>C | No |
ClinGen gnomAD |
|
|
CA407469986 rs1196200529 |
577 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1196200529 CA407469984 |
577 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA407470038 rs1237248514 |
578 | W>C | No |
ClinGen gnomAD |
|
|
CA9666081 rs546810808 |
579 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407470128 rs1189372177 |
580 | S>I | No |
ClinGen gnomAD |
|
|
rs1402358193 CA407470134 |
581 | C>S | No |
ClinGen TOPMed |
|
|
CA310110627 rs911609570 |
582 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA407470159 rs1366462213 |
582 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA407470307 rs559377104 |
585 | N>K | No |
ClinGen 1000Genomes gnomAD |
|
|
CA407470364 rs1459490066 |
586 | G>A | No |
ClinGen gnomAD |
|
|
CA407470382 rs1425647779 |
587 | L>F | No |
ClinGen gnomAD |
|
|
CA9666083 rs200225675 |
591 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9666085 rs200225675 |
591 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9666084 rs200225675 |
591 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 593 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397963441 CA407470579 |
593 | E>Q | No |
ClinGen gnomAD |
|
|
CA407470805 rs1602957194 |
594 | K>R | No |
ClinGen Ensembl |
|
|
CA9666105 rs766327026 |
596 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407470937 rs1388070058 |
597 | Q>* | No |
ClinGen gnomAD |
|
|
rs1298488000 CA407470960 |
597 | Q>R | No |
ClinGen gnomAD |
|
|
rs1240373380 CA407471039 |
598 | M>I | No |
ClinGen gnomAD |
|
|
CA9666107 rs759333263 |
598 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666108 rs765322107 |
599 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA407471084 rs1266016610 |
600 | I>M | No |
ClinGen gnomAD |
|
|
rs1474138458 CA407471093 |
601 | V>I | No |
ClinGen gnomAD |
|
|
rs1208138493 CA407471136 |
602 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9666111 rs764270864 |
603 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752086452 CA9666112 |
605 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs553234513 CA9666113 |
605 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9666114 rs553234513 |
605 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756512777 CA9666116 |
607 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs376827697 CA9666117 |
608 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1291320147 CA407471384 |
608 | R>P | No |
ClinGen gnomAD |
|
|
CA407471468 rs1474896955 |
611 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA9666119 rs573274977 |
613 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9666120 rs771461834 |
614 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666122 rs746555627 |
615 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1239174574 CA407471608 |
615 | G>R | No |
ClinGen gnomAD |
|
|
rs1323462017 CA407471653 |
616 | P>L | No |
ClinGen gnomAD |
|
|
CA407471650 rs1323462017 |
616 | P>R | No |
ClinGen gnomAD |
|
|
COSM1681375 rs1264773044 COSM1681374 CA407471682 |
618 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs559009511 COSM1190151 CA9666125 COSM1190152 |
619 | A>G | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs371929376 CA9666124 |
619 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1187824058 CA407471766 |
620 | V>G | No |
ClinGen TOPMed |
|
|
rs775540079 CA9666127 |
621 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568798177 CA407471842 |
623 | P>H | No |
ClinGen Ensembl |
|
|
CA407471836 rs1422608568 |
623 | P>S | No |
ClinGen gnomAD |
|
|
CA9666129 rs764242742 |
624 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA407471865 rs764242742 |
624 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs751647258 CA9666130 |
624 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs764242742 CA407471866 |
624 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs907299102 CA310110730 |
625 | A>D | No |
ClinGen TOPMed |
|
|
rs1216979280 CA407471880 |
625 | A>T | No |
ClinGen TOPMed |
|
|
rs907299102 CA407471897 |
625 | A>V | No |
ClinGen TOPMed |
|
|
rs1230298181 CA407471924 |
626 | P>L | No |
ClinGen TOPMed |
|
|
CA407471968 rs768077956 |
628 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768077956 CA9666132 |
628 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407471986 rs1232561212 |
630 | L>I | No |
ClinGen TOPMed |
|
|
CA9666136 rs749638129 |
631 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666135 rs780517278 |
631 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666137 rs758031153 |
632 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758031153 CA310110742 |
632 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666138 rs777409786 |
634 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777409786 CA407472053 |
634 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746467683 CA9666139 |
635 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA310110747 rs894967804 |
636 | A>D | No |
ClinGen Ensembl |
|
|
rs1239398005 CA407472107 |
637 | S>F | No |
ClinGen gnomAD |
|
|
CA9666141 rs776550161 |
638 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA407472113 rs776550161 |
638 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 640 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9666143 rs769450367 |
640 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407472215 rs1172232598 |
642 | W>* | No |
ClinGen gnomAD |
|
|
CA407472270 rs1327193237 |
645 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs748412444 CA9666144 |
645 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666145 rs762684123 |
646 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs950641602 CA310110761 |
646 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 647 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9666146 rs764307912 |
648 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 649 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407472346 rs1240764477 |
649 | S>T | No |
ClinGen TOPMed |
|
|
CA407472385 rs1224006338 |
651 | G>R | No |
ClinGen TOPMed |
|
|
CA407472535 rs759944712 CA9666174 |
653 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198027967 CA407472557 |
654 | D>G | No |
ClinGen TOPMed |
|
|
CA407472591 rs1379383331 |
656 | L>M | No |
ClinGen gnomAD |
|
|
CA9666176 rs751195519 |
657 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1230482471 CA407472671 |
660 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9666177 rs201673380 |
660 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9666180 rs755594910 |
661 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA407472679 rs577392527 CA9666179 |
661 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780029768 CA9666181 |
662 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407472703 rs1176574933 |
662 | A>V | No |
ClinGen gnomAD |
|
|
rs150079032 CA9666182 |
665 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768541328 CA9666183 |
666 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778901316 CA9666184 |
667 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407472814 rs1411526579 |
668 | Q>K | No |
ClinGen gnomAD |
|
|
CA9666185 rs747987421 |
668 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs967906327 CA9666186 |
669 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9666188 VAR_060377 rs1054940 |
669 | K>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs773318711 CA9666190 |
671 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9666191 rs747095579 |
672 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA407472907 rs369284202 |
673 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1356190164 CA407472910 |
673 | R>Q | No |
ClinGen gnomAD |
|
|
rs369284202 CA9666193 |
673 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs995815801 CA310110963 |
674 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA407472956 rs1232152997 |
677 | P>S | No |
ClinGen gnomAD |
|
|
rs1602958834 CA407472971 |
678 | E>A | No |
ClinGen Ensembl |
|
|
CA9666196 rs554576602 |
679 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765759691 CA9666195 |
679 | E>G | No |
ClinGen ExAC |
|
|
CA407472994 rs1244420335 |
680 | G>R | No |
ClinGen TOPMed |
|
|
CA9666199 rs750103854 |
682 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407473018 rs750103854 |
682 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9666200 rs113016082 |
684 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310110980 rs892906236 |
685 | S>R | No |
ClinGen gnomAD |
|
|
rs765848780 CA9666201 |
686 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA407473077 rs1281542140 |
687 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 690 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 691 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138489699 CA9666205 |
692 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138489699 CA9666206 |
692 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310110997 rs771016968 |
695 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407473179 rs1313281572 |
695 | E>Q | No |
ClinGen TOPMed |
|
|
CA9666242 rs776483758 |
696 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs759111790 CA9666243 |
697 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666244 rs147330720 |
698 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1472003496 CA407473306 |
698 | E>V | No |
ClinGen TOPMed |
|
|
CA9666251 rs140687106 |
702 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407473386 rs1323564229 |
702 | E>G | No |
ClinGen gnomAD |
|
|
CA9666248 rs940532637 |
702 | E>Q | No |
ClinGen Ensembl |
|
|
rs60073068 VAR_061647 CA9666253 |
703 | L>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA407473434 rs1446664343 |
704 | E>D | No |
ClinGen TOPMed |
|
|
rs111927649 CA9666254 |
706 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs532952971 CA310111081 |
707 | M>T | No |
ClinGen Ensembl |
|
|
rs780158902 CA9666255 |
708 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780158902 CA407473507 |
708 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666256 rs749393361 |
710 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1293815581 CA407473613 |
712 | K>Q | No |
ClinGen TOPMed |
|
|
COSM440335 CA407473647 COSM1481527 rs1602959418 |
713 | K>N | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs769004815 CA9666258 |
713 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666259 rs779487676 |
714 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1602959441 CA407473720 |
717 | E>K | No |
ClinGen Ensembl |
|
|
CA407473775 rs1602959453 |
718 | V>G | No |
ClinGen Ensembl |
|
|
CA9666262 rs776388630 |
721 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q8TE68
8 regional properties for Q8TE68
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 429 - 477 | IPR001680-1 |
| repeat | WD40 repeat | 587 - 628 | IPR001680-2 |
| repeat | WD40 repeat | 631 - 669 | IPR001680-3 |
| repeat | WD40 repeat | 672 - 711 | IPR001680-4 |
| repeat | WD40 repeat | 715 - 755 | IPR001680-5 |
| repeat | WD40 repeat | 767 - 811 | IPR001680-6 |
| domain | BOP1, N-terminal domain | 170 - 429 | IPR012953 |
| conserved_site | WD40 repeat, conserved site | 455 - 469 | IPR019775 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| T cell receptor binding | Binding to a T cell receptor, the antigen-recognizing receptor on the surface of T cells. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of ruffle assembly | Any process that activates or increases the frequency, rate or extent of ruffle assembly. |
| regulation of catalytic activity | Any process that modulates the activity of an enzyme. |
| regulation of Rho protein signal transduction | Any process that modulates the frequency, rate or extent of Rho protein signal transduction. |
| Rho protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9H6S3 | EPS8L2 | Epidermal growth factor receptor kinase substrate 8-like protein 2 | Homo sapiens (Human) | PR |
| Q8TE67 | EPS8L3 | Epidermal growth factor receptor kinase substrate 8-like protein 3 | Homo sapiens (Human) | PR |
| Q08509 | Eps8 | Epidermal growth factor receptor kinase substrate 8 | Mus musculus (Mouse) | PR |
| Q91WL0 | Eps8l3 | Epidermal growth factor receptor kinase substrate 8-like protein 3 | Mus musculus (Mouse) | PR |
| Q99K30 | Eps8l2 | Epidermal growth factor receptor kinase substrate 8-like protein 2 | Mus musculus (Mouse) | PR |
| Q8R5F8 | Eps8l1 | Epidermal growth factor receptor kinase substrate 8-like protein 1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSTATGPEAA | PKPSAKSIYE | QRKRYSTVVM | ADVSQYPVNH | LVTFCLGEDD | GVHTVEDASR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KLAVMDSQGR | VWAQEMLLRV | SPDHVTLLDP | ASKEELESYP | LGAIVRCDAV | MPPGRSRSLL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLVCQEPERA | QPDVHFFQGL | RLGAELIRED | IQGALHNYRS | GRGERRAAAL | RATQEELQRD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RSPAAETPPL | QRRPSVRAVI | STVERGAGRG | RPQAKPIPEA | EEAQRPEPVG | TSSNADSASP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DLGPRGPDLA | VLQAEREVDI | LNHVFDDVES | FVSRLQKSAE | AARVLEHRER | GRRSRRRAAG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EGLLTLRAKP | PSEAEYTDVL | QKIKYAFSLL | ARLRGNIADP | SSPELLHFLF | GPLQMIVNTS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GGPEFASSVR | RPHLTSDAVA | LLRDNVTPRE | NELWTSLGDS | WTRPGLELSP | EEGPPYRPEF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FSGWEPPVTD | PQSRAWEDPV | EKQLQHERRR | RQQSAPQVAV | NGHRDLEPES | EPQLESETAG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KWVLCNYDFQ | ARNSSELSVK | QRDVLEVLDD | SRKWWKVRDP | AGQEGYVPYN | ILTPYPGPRL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| HHSQSPARSL | NSTPPPPPAP | APAPPPALAR | PRWDRPRWDS | CDSLNGLDPS | EKEKFSQMLI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VNEELQARLA | QGRSGPSRAV | PGPRAPEPQL | SPGSDASEVR | AWLQAKGFSS | GTVDALGVLT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GAQLFSLQKE | ELRAVSPEEG | ARVYSQVTVQ | RSLLEDKEKV | SELEAVMEKQ | KKKVEGEVEM |
| EVI |