Q8TC07
PR
Gene name |
TBC1D15 |
Protein name |
TBC1 domain family member 15 |
Names |
GTPase-activating protein RAB7, GAP for RAB7, Rab7-GAP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64786 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8TC07
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TC07-F1 | Predicted | AlphaFoldDB |
491 variants for Q8TC07
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6688948 rs367933432 |
2 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs548114735 CA6688947 |
2 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs992333076 CA239240174 |
3 | A>S | No |
ClinGen TOPMed |
|
|
CA239240179 rs201319080 |
3 | A>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs998789649 CA239240208 |
4 | A>P | No |
ClinGen Ensembl |
|
|
rs577416716 CA6688950 |
4 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6688953 rs778191793 |
5 | G>V | No |
ClinGen ExAC |
|
|
CA385780067 rs1272101183 |
6 | V>A | No |
ClinGen gnomAD |
|
|
rs1272101183 CA385780068 |
6 | V>G | No |
ClinGen gnomAD |
|
|
rs893208532 CA239240226 |
7 | V>G | No |
ClinGen Ensembl |
|
|
CA6688957 rs745901702 |
7 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6688958 rs551848485 |
8 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747260729 CA6688960 CA385780081 |
9 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs75347629 CA6688964 |
10 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs75347629 CA385780085 |
10 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6688965 rs145355906 |
10 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA239223295 rs976993987 |
11 | I>V | No |
ClinGen TOPMed |
|
|
CA385776231 rs1300532009 |
12 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1311990866 CA385776236 |
13 | Y>C | No |
ClinGen Ensembl |
|
|
rs1244952789 CA385776240 |
14 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 18 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 18 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1246922137 CA385776280 |
19 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6689003 rs770649970 |
23 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745696070 CA6689005 |
24 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 25 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385776339 rs1245358488 |
28 | N>D | No |
ClinGen TOPMed |
|
|
CA6689006 rs772012203 |
28 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775319242 CA6689007 |
29 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6689009 rs768292876 |
32 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761552673 CA6689012 |
37 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1428541764 CA385776399 |
37 | I>V | No |
ClinGen gnomAD |
|
|
CA6689013 rs377189309 |
39 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368891768 CA6689015 |
39 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368891768 CA6689014 |
39 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 40 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385776422 rs1422281003 |
41 | L>V | No |
ClinGen TOPMed |
|
|
rs766871929 CA6689016 |
42 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6689034 rs766654769 |
45 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760019816 CA6689036 |
46 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768057008 CA239223699 |
48 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239223695 rs924575334 |
48 | I>T | No |
ClinGen Ensembl |
|
|
rs1410559067 CA385776731 |
48 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1223155726 CA385776738 |
49 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs752755940 CA6689038 |
49 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200385677 CA385776747 |
50 | D>E | No |
ClinGen TOPMed |
|
|
CA6689039 rs756211167 |
52 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6689042 rs758155901 |
61 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA385776825 rs1206796542 |
62 | S>G | No |
ClinGen gnomAD |
|
|
rs779701272 CA6689043 |
64 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs746867460 CA6689044 |
65 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239223729 rs866109080 |
66 | A>D | No |
ClinGen Ensembl |
|
|
CA385778170 rs1176925222 |
69 | D>E | No |
ClinGen gnomAD |
|
|
rs148819869 CA239227245 |
75 | E>A | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 76 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385778271 rs1335927524 |
77 | T>S | No |
ClinGen gnomAD |
|
|
CA6689060 rs143460381 |
77 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6689061 rs148007091 |
78 | Q>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385778304 rs1024942008 |
80 | P>L | No |
ClinGen TOPMed |
|
|
rs1024942008 CA239227252 |
80 | P>R | No |
ClinGen TOPMed |
|
|
rs765535456 CA6689062 |
81 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 83 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385778371 rs1338305702 |
84 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA385778373 rs1338305702 |
84 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1219405743 CA385778401 |
86 | R>* | No |
ClinGen gnomAD |
|
|
rs755345389 CA239227256 |
86 | R>Q | No |
ClinGen TOPMed |
|
|
rs1472788267 CA385778420 |
87 | G>V | No |
ClinGen gnomAD |
|
|
rs1463175604 CA385778436 |
89 | E>Q | No |
ClinGen TOPMed |
|
|
CA6689065 rs145985044 |
92 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs545045683 CA6689066 |
93 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs545045683 CA385778511 |
93 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6689067 rs752683338 |
94 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6689069 rs777131715 |
95 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1240684515 CA385778559 |
96 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1240684515 CA385778557 |
96 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA385778638 rs1468716431 |
100 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs138692684 CA6689072 |
100 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138692684 CA6689071 |
100 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6689074 rs772433714 |
106 | F>L | No |
ClinGen ExAC |
|
|
CA6689075 rs775921125 |
108 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs761075640 CA6689076 |
111 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1363165717 CA385778733 |
114 | G>E | No |
ClinGen TOPMed |
|
|
rs1347731806 CA385779456 |
117 | P>R | No |
ClinGen gnomAD |
|
|
rs769996453 CA6689098 |
118 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6689099 rs773508285 |
118 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA385779475 rs1231511069 |
118 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 122 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385779557 rs1351740083 |
123 | K>R | No |
ClinGen gnomAD |
|
|
CA385779570 rs1314376722 |
124 | S>G | No |
ClinGen TOPMed |
|
|
CA385779626 rs1210788052 |
129 | L>P | No |
ClinGen gnomAD |
|
|
CA385779661 rs1398938175 |
134 | D>V | No |
ClinGen TOPMed |
|
|
rs908896641 CA239229540 |
136 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6689102 rs775389540 |
138 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400134632 CA385779688 |
139 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 139 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401397419 CA385779700 |
140 | Q>R | No |
ClinGen TOPMed |
|
|
CA239229557 rs920879951 |
143 | E>K | No |
ClinGen Ensembl |
|
|
CA385779730 rs1221960321 |
144 | G>D | No |
ClinGen gnomAD |
|
|
CA6689103 rs760545671 |
144 | G>S | No |
ClinGen ExAC |
|
|
COSM369868 rs1221960321 CA385779729 |
144 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6689104 rs146267554 |
145 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1484038883 CA385779742 |
146 | G>C | No |
ClinGen gnomAD |
|
|
rs1484038883 CA385779740 |
146 | G>S | No |
ClinGen gnomAD |
|
|
rs1179653415 COSM273332 CA385779747 |
147 | W>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA385779765 rs1363141973 |
149 | Y>C | No |
ClinGen gnomAD |
|
|
CA385779764 rs1363141973 |
149 | Y>S | No |
ClinGen gnomAD |
|
|
rs756666077 CA6689106 |
151 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA385779783 rs1383103235 |
152 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1383103235 CA385779782 |
152 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385779790 rs1423624653 |
153 | C>R | No |
ClinGen gnomAD |
|
|
rs34185988 CA6689107 |
153 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6689108 rs551976520 |
154 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs149981863 CA239229592 COSM943287 |
158 | V>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
CA385779825 rs149981863 |
158 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA239229613 rs779730555 |
159 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779730555 CA6689110 |
159 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286344768 CA385779844 |
161 | P>L | No |
ClinGen gnomAD |
|
|
rs573583308 CA6689116 |
164 | H>R | No |
ClinGen 1000Genomes ExAC |
|
|
CA385779875 rs1484108573 |
166 | H>R | No |
ClinGen gnomAD |
|
|
CA6689117 rs200459507 |
168 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385779898 rs1181187360 |
169 | D>E | No |
ClinGen gnomAD |
|
|
rs774668422 CA6689119 |
169 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1189466217 CA385779894 |
169 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs760324166 CA6689120 |
170 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs761737005 CA6689123 |
174 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1402230126 CA385779934 |
175 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 175 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6689125 rs749914058 |
177 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373705972 CA239229691 |
178 | E>K | No |
ClinGen ESP |
|
|
CA385779957 rs1339191017 |
179 | K>E | No |
ClinGen gnomAD |
|
|
rs1452351591 CA385779974 |
181 | V>L | No |
ClinGen gnomAD |
|
|
rs893750024 CA239229698 |
182 | V>L | No |
ClinGen gnomAD |
|
|
rs1225462952 CA385779988 |
183 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs753085630 CA6689148 |
185 | E>D | No |
ClinGen ExAC |
|
|
CA385780022 rs1444645926 |
186 | S>F | No |
ClinGen TOPMed |
|
|
rs1160471297 CA385780023 |
187 | P>T | No |
ClinGen gnomAD |
|
|
CA385780319 rs1566024857 |
189 | D>G | No |
ClinGen Ensembl |
|
|
CA6689150 rs200594589 |
189 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6689151 rs148732371 |
191 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3417116 CA6689152 rs757899447 |
191 | R>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs372300088 CA6689153 |
192 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142350968 CA6689154 |
194 | L>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772316668 CA6689155 |
197 | C>Y | No |
ClinGen ExAC |
|
|
rs780162356 CA6689156 |
198 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6689157 rs780162356 |
198 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176305496 CA385780396 |
199 | N>D | No |
ClinGen TOPMed |
|
|
rs1458699167 CA385780399 |
199 | N>S | No |
ClinGen TOPMed |
|
|
rs769581394 CA6689158 |
200 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA385780413 rs1314965295 |
201 | S>N | No |
ClinGen gnomAD |
|
|
CA385780420 rs1238035076 |
202 | L>F | No |
ClinGen gnomAD |
|
|
CA6689160 rs368497915 |
204 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6689162 rs773879213 |
206 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239233979 rs773879213 |
206 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385780445 rs1267563833 |
206 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs773879213 CA385780443 |
206 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6689163 rs759013274 |
209 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752405330 CA6689165 |
213 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752405330 CA385780493 |
213 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6689168 rs754324319 |
216 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA239233999 rs1054648927 |
218 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA385780529 rs1410498085 |
219 | Q>K | No |
ClinGen gnomAD |
|
|
CA385780551 rs1242877371 |
220 | A>S | No |
ClinGen gnomAD |
|
|
CA6689194 rs751703097 |
221 | G>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs140141653 CA6689195 |
221 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6689196 rs140141653 |
221 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6689197 rs749058967 |
223 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1408169664 CA385780623 |
231 | A>V | No |
ClinGen gnomAD |
|
|
CA385780625 rs1335871394 |
232 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs772116602 CA6689201 |
233 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs775112724 CA6689202 |
234 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs140103868 CA6689203 |
236 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6689204 rs140103868 |
236 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs866145712 CA239234912 |
237 | K>R | No |
ClinGen TOPMed |
|
|
rs778571188 CA6689217 |
239 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA385780700 rs1168614241 |
241 | D>H | No |
ClinGen TOPMed |
|
|
rs1222225435 CA385780716 |
243 | Y>H | No |
ClinGen gnomAD |
|
|
rs780162872 CA6689220 |
244 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181410031 CA385780727 |
245 | A>T | No |
ClinGen TOPMed |
|
|
rs1233661572 CA385780740 |
247 | M>V | No |
ClinGen gnomAD |
|
|
rs768288333 CA6689222 |
248 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA385780768 rs1446660638 |
249 | G>E | No |
ClinGen gnomAD |
|
|
rs747741171 CA6689224 |
252 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1489879684 CA385780829 |
255 | N>D | No |
ClinGen gnomAD |
|
|
rs769556397 CA6689225 |
256 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA239234930 rs1055654330 |
256 | Y>D | No |
ClinGen TOPMed |
|
|
rs1364285669 CA385780893 |
259 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs773417093 CA6689226 COSM943291 |
260 | S>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1043202849 CA239234940 |
261 | L>W | No |
ClinGen TOPMed |
|
|
rs893018157 CA239234947 |
264 | S>N | No |
ClinGen TOPMed |
|
|
CA6689227 COSM943292 rs763420802 |
265 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6689228 rs757631876 |
266 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA385781001 rs1403776714 |
267 | S>A | No |
ClinGen gnomAD |
|
|
CA6689229 rs774868106 |
268 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6689231 rs767574229 |
271 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385781056 rs1384304017 |
271 | R>L | No |
ClinGen TOPMed |
|
|
CA6689232 rs752890787 |
273 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239234976 rs377007173 |
273 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA6689234 rs138023267 |
276 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6689235 rs559187625 |
277 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA239234991 rs777076292 |
277 | A>V | No |
ClinGen TOPMed |
|
|
CA6689236 rs758300025 |
278 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs199671194 CA6689237 |
279 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6689238 rs751556997 |
281 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385781187 rs1232097158 |
282 | D>G | No |
ClinGen gnomAD |
|
|
rs755022411 CA6689239 |
283 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1382974826 CA385781226 |
285 | P>L | No |
ClinGen gnomAD |
|
|
rs1423564422 CA385781236 |
286 | G>D | No |
ClinGen gnomAD |
|
|
rs145594427 CA6689241 |
289 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6689242 rs769307608 |
291 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA385781312 rs1188577205 |
292 | Q>* | No |
ClinGen gnomAD |
|
|
rs777499887 CA6689243 |
292 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA385781329 rs1327437825 |
293 | E>A | No |
ClinGen gnomAD |
|
|
rs1335606340 CA385781404 |
299 | V>A | No |
ClinGen gnomAD |
|
|
rs755677451 CA6689261 |
305 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269631922 CA385781479 |
305 | L>M | No |
ClinGen gnomAD |
|
|
CA6689262 rs777221800 |
306 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6689263 rs374857229 COSM1628837 |
308 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA6689264 rs756973108 |
308 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs374857229 CA385781498 |
308 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1205420080 CA385781507 |
309 | P>L | No |
ClinGen gnomAD |
|
|
CA385781509 rs1265975588 |
310 | V>L | No |
ClinGen TOPMed |
|
|
CA385781514 rs1263384696 |
311 | V>I | No |
ClinGen gnomAD |
|
|
rs746284039 CA6689266 |
312 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385781554 rs1429313940 |
316 | P>L | No |
ClinGen gnomAD |
|
|
CA6689268 rs776097424 |
317 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776097424 CA385781556 |
317 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776909729 CA6689271 |
319 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs371079720 CA6689270 |
319 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 320 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380696812 CA385781612 |
325 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 329 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs530730394 CA6689276 |
331 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6689277 rs752680186 |
332 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA239235973 rs368647966 |
334 | N>S | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 335 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262229147 CA385781677 |
335 | V>I | No |
ClinGen gnomAD |
|
|
rs763643670 CA6689279 |
336 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA385781690 rs1392897911 |
337 | N>H | No |
ClinGen TOPMed |
|
|
CA6689280 rs753390164 |
337 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453758879 CA385781702 |
338 | M>T | No |
ClinGen TOPMed |
|
|
CA6689281 rs756883142 |
341 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161877996 CA385781742 |
342 | I>L | No |
ClinGen TOPMed |
|
|
CA6689321 rs771122616 |
349 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA385782067 rs771122616 |
349 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 357 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456749763 CA385782249 |
357 | K>N | No |
ClinGen gnomAD |
|
|
rs1253577025 CA385782231 |
357 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 357 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6689322 rs775335374 |
358 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6689323 rs763242390 |
363 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA385782388 rs1210305988 |
365 | W>C | No |
ClinGen TOPMed |
|
| TCGA novel | 365 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs537208110 CA239236746 |
366 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA385782390 rs1446682770 |
366 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 370 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385782450 rs1271936364 |
370 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 373 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199408850 CA385782501 |
373 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA385782511 rs1172505951 |
374 | Q>R | No |
ClinGen gnomAD |
|
|
rs1337164027 CA385782524 |
375 | L>* | No |
ClinGen gnomAD |
|
|
rs1465001195 CA385782521 |
375 | L>I | No |
ClinGen gnomAD |
|
|
CA385782531 rs1407940777 |
376 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 377 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283226138 CA385782561 |
378 | Q>K | No |
ClinGen gnomAD |
|
|
rs1362106888 CA385782569 |
378 | Q>R | No |
ClinGen gnomAD |
|
|
rs749969655 CA6689328 |
380 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 380 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 380 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6689345 rs772755503 |
384 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs956501648 CA239237679 |
385 | R>G | No |
ClinGen TOPMed |
|
|
CA6689346 rs762390294 |
386 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6689348 rs183064428 |
394 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385783080 rs1476979224 |
394 | S>I | No |
ClinGen gnomAD |
|
|
CA385783093 rs1171810121 |
396 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA385783092 rs1171810121 |
396 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6689349 rs759918648 |
397 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 398 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 400 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1162675 rs578222908 CA6689350 |
402 | S>L | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs150295096 CA6689351 |
403 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385783175 rs1405003277 |
407 | Y>C | No |
ClinGen gnomAD |
|
| rs764533311 | 411 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385783203 rs1207294052 |
411 | I>T | No |
ClinGen TOPMed |
|
|
CA385783399 rs1439381777 |
412 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA385783410 rs1489972225 |
414 | D>H | No |
ClinGen gnomAD |
|
|
CA385783432 rs1237288081 |
417 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 417 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761155983 CA6689376 |
419 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764598218 CA6689377 |
420 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6689378 rs754319620 |
420 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA239244765 rs1043534116 |
422 | N>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 423 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6689380 rs765228164 |
425 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA385783503 rs1299439367 |
427 | G>A | No |
ClinGen TOPMed |
|
|
rs1467601672 CA385783499 |
427 | G>S | No |
ClinGen gnomAD |
|
|
CA6689381 rs750543494 |
428 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs780274704 CA6689383 |
429 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs144898710 CA6689382 |
429 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6689384 rs747896186 |
431 | P>A | No |
ClinGen ExAC |
|
|
CA6689385 rs149051431 |
434 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777708288 CA6689386 |
436 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs777708288 CA385783558 |
436 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1418255626 CA385783567 |
437 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 437 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385783576 rs1341412411 |
438 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 440 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 440 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385783588 rs1566056372 |
440 | L>S | No |
ClinGen Ensembl |
|
|
rs369248372 CA6689388 |
444 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA239244860 rs190497690 |
445 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6689389 rs190497690 |
445 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1205231515 CA385783634 |
446 | Y>C | No |
ClinGen gnomAD |
|
|
rs1253607322 CA385783664 |
450 | L>* | No |
ClinGen gnomAD |
|
|
CA385776462 rs1481028847 |
452 | Y>C | No |
ClinGen gnomAD |
|
|
rs1178723060 CA385776467 |
453 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385776479 rs3759171 |
454 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385776476 rs1376226380 |
454 | Q>R | No |
ClinGen gnomAD |
|
|
rs757117530 CA6689406 |
456 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA385776495 rs370630241 |
457 | S>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA239207629 rs370630241 |
457 | S>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1566070867 CA385776529 |
462 | P>A | No |
ClinGen Ensembl |
|
|
CA6689408 rs373483288 |
464 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1298923538 CA385776550 |
465 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA385776547 rs1388384601 |
465 | Y>H | No |
ClinGen gnomAD |
|
|
rs1330293147 CA385776556 |
466 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1424220758 CA385776578 |
469 | N>D | No |
ClinGen TOPMed |
|
|
rs779771958 CA6689410 |
472 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6689411 rs746655043 |
473 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776839503 CA6689414 |
478 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6689413 rs776839503 |
478 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6689415 rs770157934 |
480 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6689416 rs773712195 |
481 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182848937 CA385776676 |
482 | D>E | No |
ClinGen gnomAD |
|
|
CA385776690 rs1366196996 |
484 | M>I | No |
ClinGen gnomAD |
|
|
rs370865879 CA6689420 |
484 | M>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs973351776 CA239210015 |
485 | H>R | No |
ClinGen gnomAD |
|
|
CA385776866 rs1380773933 |
486 | Q>H | No |
ClinGen gnomAD |
|
|
rs1311323912 CA385776945 |
492 | M>I | No |
ClinGen gnomAD |
|
|
CA385776940 rs1226148442 |
492 | M>L | No |
ClinGen gnomAD |
|
|
CA6689442 rs201144248 |
494 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239210028 rs201144248 |
494 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760864834 CA6689443 |
495 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA385776960 rs1487401150 |
495 | M>V | No |
ClinGen TOPMed |
|
|
CA385776972 rs1456705493 |
496 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs765120637 CA6689444 |
498 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs746944575 CA239210038 |
503 | S>T | No |
ClinGen Ensembl |
|
|
rs766444531 CA6689447 |
507 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1225822385 CA385777066 |
511 | S>G | No |
ClinGen TOPMed |
|
|
CA6689449 rs754519089 |
511 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385777072 rs1464889257 |
512 | G>R | No |
ClinGen gnomAD |
|
|
rs1360562055 CA385777078 |
513 | F>I | No |
ClinGen gnomAD |
|
|
CA385777105 rs1445282994 |
516 | Y>C | No |
ClinGen gnomAD |
|
|
CA385777104 rs1216446959 |
516 | Y>H | No |
ClinGen TOPMed |
|
|
rs1218929185 CA385777286 |
519 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 520 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761909220 CA239210485 |
524 | Y>* | No |
ClinGen Ensembl |
|
|
rs1283899318 CA385777320 |
524 | Y>C | No |
ClinGen gnomAD |
|
|
CA6689475 rs779205397 |
525 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA385777331 rs1248300577 |
526 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6689476 rs746383344 |
526 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 528 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190309841 CA385777344 |
528 | C>R | No |
ClinGen gnomAD |
|
|
CA385777394 rs1359277650 |
534 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs141790587 CA6689480 |
536 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776999633 CA6689481 |
540 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239210525 rs17852521 |
541 | S>G | No |
ClinGen Ensembl |
|
|
CA385777441 rs762776328 |
541 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6689482 rs762776328 |
541 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6689484 rs774077143 |
543 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1452115002 CA385777459 |
544 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs759481642 CA6689485 |
544 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385777474 rs1238997752 |
546 | L>H | No |
ClinGen TOPMed |
|
|
rs1242500332 CA385777478 |
547 | R>* | No |
ClinGen gnomAD |
|
|
CA385777479 rs1307255821 |
547 | R>Q | No |
ClinGen gnomAD |
|
|
CA239211642 rs1050012457 |
552 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs781477125 CA6689502 |
552 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1592840575 CA385777795 |
554 | T>A | No |
ClinGen Ensembl |
|
|
CA6689503 rs748373866 |
554 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6689505 rs200350353 |
555 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772005912 CA6689507 |
558 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA6689508 rs775408352 |
559 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA239211664 rs1015077040 COSM247724 |
560 | N>D | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1291738274 CA385777847 |
562 | H>P | No |
ClinGen TOPMed |
|
|
rs371933973 CA6689510 |
563 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs777903951 | 565 | L>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs929837552 CA239211671 |
565 | L>F | No |
ClinGen Ensembl |
|
|
rs376818317 CA6689512 |
566 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA239211697 rs909951631 |
567 | C>F | No |
ClinGen Ensembl |
|
|
rs764824736 CA6689514 |
568 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA385777936 rs1455441571 |
570 | L>P | No |
ClinGen TOPMed |
|
|
rs1336255413 CA385777944 |
571 | E>Q | No |
ClinGen gnomAD |
|
|
rs750764095 CA6689515 |
572 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1447280548 CA385778013 |
575 | Q>H | No |
ClinGen gnomAD |
|
|
rs942826710 CA239211705 |
577 | I>M | No |
ClinGen Ensembl |
|
|
rs369877443 CA6689516 |
577 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6689517 rs373215244 |
578 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385778114 rs1345298630 |
581 | H>Q | No |
ClinGen gnomAD |
|
|
rs1201815912 CA385778123 |
582 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1441312488 CA385778180 |
585 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6689521 rs781385166 |
588 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1479059558 CA385778226 |
589 | K>Q | No |
ClinGen gnomAD |
|
|
CA385778299 rs1159344261 |
590 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA385778300 rs1159344261 |
590 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA385778295 rs1251855288 |
590 | H>Y | No |
ClinGen TOPMed |
|
|
CA385778324 rs768157566 |
592 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768157566 CA6689539 |
592 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777991523 CA6689542 |
596 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6689541 rs759637857 |
596 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1388329053 CA385778386 |
597 | K>N | No |
ClinGen gnomAD |
|
|
rs373831422 CA239212074 |
598 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs749468113 CA6689543 |
599 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA239212075 rs1016683959 |
600 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 601 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA239212085 rs1013070913 |
602 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs757542491 CA6689544 |
602 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6689547 rs768544170 |
603 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs143075802 CA6689546 |
603 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6689545 rs181800282 |
603 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776558508 CA6689548 |
610 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385778552 rs1468209118 |
613 | Q>* | No |
ClinGen gnomAD |
|
|
CA385778611 rs1435833620 |
617 | C>F | No |
ClinGen TOPMed |
|
|
CA6689551 rs772843422 |
618 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6689550 rs769176779 |
618 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs748034160 CA6689569 |
622 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs868240447 CA239212781 |
625 | C>G | No |
ClinGen Ensembl |
|
|
CA385778817 rs1470780781 |
628 | L>P | No |
ClinGen TOPMed |
|
|
CA6689571 rs777123590 |
633 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA239212789 rs945246472 |
633 | S>N | No |
ClinGen Ensembl |
|
|
rs770663786 CA6689573 |
635 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291941324 CA385778859 |
635 | V>I | No |
ClinGen gnomAD |
|
|
rs1000521591 CA239212811 |
637 | T>P | No |
ClinGen TOPMed |
|
|
rs1219656222 CA385778876 |
638 | P>A | No |
ClinGen gnomAD |
|
|
rs1566089859 CA385778880 |
638 | P>L | No |
ClinGen Ensembl |
|
|
CA6689574 rs774149939 |
639 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6689575 rs759922741 |
641 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs758014976 CA6689578 |
642 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758014976 CA6689579 |
642 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140008712 CA6689577 |
642 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1366796776 CA385778921 |
645 | D>G | No |
ClinGen TOPMed |
|
|
rs753822163 CA6689580 |
645 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 645 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375875620 CA239212830 |
646 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1301054821 CA385778932 |
647 | N>H | No |
ClinGen TOPMed |
|
|
rs761890102 CA6689582 |
647 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs544514246 CA6689583 |
649 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 649 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311692349 CA385778956 |
650 | M>I | No |
ClinGen gnomAD |
|
|
rs1464131541 CA385778954 |
650 | M>R | No |
ClinGen gnomAD |
|
|
CA239212877 rs925078572 |
650 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1375387421 CA385778961 |
651 | T>I | No |
ClinGen gnomAD |
|
|
rs1029350500 CA13690544 |
652 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA385778973 rs1280561307 |
653 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA385778972 rs1280561307 |
653 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs758689458 CA6689585 |
655 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758689458 CA6689586 |
655 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385778998 rs1159180304 |
657 | A>V | No |
ClinGen gnomAD |
|
|
rs755952341 CA6689588 |
661 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA385779035 rs1488579001 |
662 | A>V | No |
ClinGen gnomAD |
|
|
CA6689589 rs370518259 |
664 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA385779049 rs1240200581 |
665 | T>A | No |
ClinGen gnomAD |
|
|
rs866669999 CA239212904 |
665 | T>I | No |
ClinGen TOPMed |
|
|
rs748678043 CA6689590 |
666 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748678043 CA385779054 |
666 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385779059 rs1431037049 |
667 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA239212912 rs911387959 |
667 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA239212916 rs936475983 |
668 | A>D | No |
ClinGen gnomAD |
|
|
CA385779085 rs1236239388 |
671 | A>G | No |
ClinGen TOPMed |
|
|
CA6689592 rs770577886 |
671 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6689591 rs770577886 |
671 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367755314 CA6689594 |
672 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300559646 CA385779094 |
673 | N>H | No |
ClinGen gnomAD |
|
|
CA6689595 rs562497077 |
674 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1566090698 CA385779108 |
675 | S>G | No |
ClinGen Ensembl |
|
|
CA239212962 rs200399896 |
676 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6689598 rs777212573 |
677 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385779122 rs1302857187 |
677 | T>K | No |
ClinGen gnomAD |
|
|
CA385779128 rs1290777280 |
678 | Q>P | No |
ClinGen TOPMed |
|
|
CA239212977 rs201549493 |
679 | I>K | No |
ClinGen Ensembl |
|
|
CA385779140 rs1566090835 |
680 | P>T | No |
ClinGen Ensembl |
|
|
rs762369217 CA6689599 |
681 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA239213001 rs867336482 |
682 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 682 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6689601 rs148786770 |
682 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 684 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142468209 CA6689602 |
685 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385779168 rs1170165569 |
685 | V>I | No |
ClinGen TOPMed |
|
|
rs766643359 CA6689603 |
687 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1005065414 CA239213043 |
688 | L>V | No |
ClinGen Ensembl |
|
|
CA6689605 rs755937928 |
690 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755937928 CA239213047 |
690 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752391187 CA6689604 |
690 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q8TC07
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
| regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
29 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P48365 | GYP7 | GTPase-activating protein GYP7 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| A0A087X1G2 | TBC1D3K | TBC1 domain family member 3K | Homo sapiens (Human) | PR |
| B9A6J9 | TBC1D3L | TBC1 domain family member 3L | Homo sapiens (Human) | PR |
| Q8WUA7 | TBC1D22A | TBC1 domain family member 22A | Homo sapiens (Human) | PR |
| Q8IZP1 | TBC1D3 | TBC1 domain family member 3 | Homo sapiens (Human) | PR |
| Q6IPX1 | TBC1D3C | TBC1 domain family member 3C | Homo sapiens (Human) | PR |
| A0A087WVF3 | TBC1D3D | TBC1 domain family member 3D | Homo sapiens (Human) | PR |
| A6NER0 | TBC1D3F | TBC1 domain family member 3F | Homo sapiens (Human) | PR |
| A0A087WXS9 | TBC1D3I | TBC1 domain family member 3I | Homo sapiens (Human) | PR |
| Q6DHY5 | TBC1D3G | TBC1 domain family member 3G | Homo sapiens (Human) | PR |
| A0A087X179 | TBC1D3E | TBC1 domain family member 3E | Homo sapiens (Human) | PR |
| P0C7X1 | TBC1D3H | TBC1 domain family member 3H | Homo sapiens (Human) | PR |
| A6NDS4 | TBC1D3B | TBC1 domain family member 3B | Homo sapiens (Human) | PR |
| Q8IV04 | TBC1D10C | Carabin | Homo sapiens (Human) | PR |
| Q5TC63 | GRTP1 | Growth hormone-regulated TBC protein 1 | Homo sapiens (Human) | PR |
| O60343 | TBC1D4 | TBC1 domain family member 4 | Homo sapiens (Human) | PR |
| Q86TI0 | TBC1D1 | TBC1 domain family member 1 | Homo sapiens (Human) | PR |
| O60447 | EVI5 | Ecotropic viral integration site 5 protein homolog | Homo sapiens (Human) | PR |
| Q3MII6 | TBC1D25 | TBC1 domain family member 25 | Homo sapiens (Human) | PR |
| Q2NKQ1 | SGSM1 | Small G protein signaling modulator 1 | Homo sapiens (Human) | PR |
| Q9HA65 | TBC1D17 | TBC1 domain family member 17 | Homo sapiens (Human) | PR |
| O95759 | TBC1D8 | TBC1 domain family member 8 | Homo sapiens (Human) | PR |
| Q0IIM8 | TBC1D8B | TBC1 domain family member 8B | Homo sapiens (Human) | PR |
| Q66K14 | TBC1D9B | TBC1 domain family member 9B | Homo sapiens (Human) | PR |
| Q6ZT07 | TBC1D9 | TBC1 domain family member 9 | Homo sapiens (Human) | PR |
| Q8TEA7 | TBCK | TBC domain-containing protein kinase-like protein | Homo sapiens (Human) | PR |
| Q9UPU7 | TBC1D2B | TBC1 domain family member 2B | Homo sapiens (Human) | PR |
| A1A5B6 | Tbc1d25 | TBC1 domain family member 25 | Mus musculus (Mouse) | PR |
| Q8BYH7 | Tbc1d17 | TBC1 domain family member 17 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAGVVSGK | IIYEQEGVYI | HSSCGKTNDQ | DGLISGILRV | LEKDAEVIVD | WRPLDDALDS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSILYARKDS | SSVVEWTQAP | KERGHRGSEH | LNSYEAEWDM | VNTVSFKRKP | HTNGDAPSHR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NGKSKWSFLF | SLTDLKSIKQ | NKEGMGWSYL | VFCLKDDVVL | PALHFHQGDS | KLLIESLEKY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VVLCESPQDK | RTLLVNCQNK | SLSQSFENLL | DEPAYGLIQA | GLLDRRKLLW | AIHHWKKIKK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DPYTATMIGF | SKVTNYIFDS | LRGSDPSTHQ | RPPSEMADFL | SDAIPGLKIN | QQEEPGFEVI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TRIDLGERPV | VQRREPVSLE | EWTKNIDSEG | RILNVDNMKQ | MIFRGGLSHA | LRKQAWKFLL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GYFPWDSTKE | ERTQLQKQKT | DEYFRMKLQW | KSISQEQEKR | NSRLRDYRSL | IEKDVNRTDR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TNKFYEGQDN | PGLILLHDIL | MTYCMYDFDL | GYVQGMSDLL | SPLLYVMENE | VDAFWCFASY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MDQMHQNFEE | QMQGMKTQLI | QLSTLLRLLD | SGFCSYLESQ | DSGYLYFCFR | WLLIRFKREF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SFLDILRLWE | VMWTELPCTN | FHLLLCCAIL | ESEKQQIMEK | HYGFNEILKH | INELSMKIDV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EDILCKAEAI | SLQMVKCKEL | PQAVCEILGL | QGSEVTTPDS | DVGEDENVVM | TPCPTSAFQS |
| 670 | 680 | 690 | |||
| NALPTLSASG | ARNDSPTQIP | VSSDVCRLTP | A |