Q008S8
PR
Gene name |
ECT2L (C6orf91, LFDH) |
Protein name |
Epithelial cell-transforming sequence 2 oncogene-like |
Names |
Lung-specific F-box and DH domain-containing protein, Putative guanine nucleotide exchange factor LFDH |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:345930 |
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 Q008S8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q008S8-F1 | Predicted | AlphaFoldDB |
768 variants for Q008S8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA158381 rs79219465 RCV000120670 |
4 | F>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4022945 rs768172622 |
8 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1024101412 CA148321162 |
8 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs776053139 CA4022946 |
9 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1455516777 CA365810282 |
11 | W>* | No |
ClinGen gnomAD |
|
|
rs1216466761 CA365810279 |
11 | W>R | No |
ClinGen gnomAD |
|
|
CA4022948 rs771630511 |
13 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs961044495 CA148321176 |
14 | F>S | No |
ClinGen TOPMed |
|
|
CA4022949 rs369742195 |
17 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4022951 rs373540636 |
18 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4022950 rs373540636 |
18 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1415433682 CA365810330 |
18 | S>P | No |
ClinGen gnomAD |
|
|
CA365810356 rs1562453149 |
22 | Q>E | No |
ClinGen Ensembl |
|
|
rs1460997316 CA365810358 |
22 | Q>R | No |
ClinGen TOPMed |
|
|
rs760147648 CA4022969 |
23 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA148322068 rs918686607 |
30 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs775770936 CA4022971 |
30 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365810426 rs775770936 |
30 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 32 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764292049 CA4022974 |
34 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148322093 rs868327314 |
34 | W>* | No |
ClinGen ESP TOPMed |
|
|
CA4022975 rs376834609 |
35 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA365810475 rs1440524495 |
37 | L>F | No |
ClinGen TOPMed |
|
|
CA365810503 rs1460844177 |
41 | K>E | No |
ClinGen gnomAD |
|
|
CA4022979 rs576169167 COSM1250918 |
43 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA148322137 rs914246264 |
43 | R>H | No |
ClinGen Ensembl |
|
|
COSM1073859 CA4022981 rs182121766 |
45 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs751376682 CA4022982 |
47 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754805259 CA4022983 |
48 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754805259 CA365810552 |
48 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146769748 CA148322190 |
49 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA158393 RCV000120674 rs146769748 |
49 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA365810564 rs1358246949 |
50 | I>V | No |
ClinGen Ensembl |
|
|
CA4022986 rs577253266 COSM300013 |
52 | L>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA4022987 rs577253266 |
52 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4022988 rs79876201 |
53 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365810584 rs79876201 |
53 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs370937616 CA4022989 |
58 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150345992 CA4023006 |
63 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748878656 CA4023008 |
64 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4023007 rs777412855 |
64 | D>N | No |
ClinGen ExAC |
|
| TCGA novel | 65 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365798763 rs1258754507 |
66 | F>S | No |
ClinGen gnomAD |
|
|
rs376114360 CA148298498 |
68 | E>G | No |
ClinGen ESP |
|
|
CA4023009 rs756799483 |
68 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747575140 CA4023011 |
70 | M>I | No |
ClinGen ExAC |
|
|
CA4023010 rs543235657 |
70 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4023012 rs768864069 |
72 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 74 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA148298519 rs183610834 |
75 | V>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs777020972 CA4023013 |
75 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023014 rs748348446 |
77 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1006578703 CA148298526 |
80 | V>A | No |
ClinGen Ensembl |
|
|
CA365799007 rs1206435120 |
81 | L>S | No |
ClinGen TOPMed |
|
|
CA148298534 rs762324898 |
82 | P>L | No |
ClinGen TOPMed |
|
|
rs199661194 CA4023015 |
83 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4023016 rs199661194 |
83 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM302111 rs762882490 CA4023017 |
83 | R>H | Variant assessed as Somatic; 4.638e-05 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4023018 rs766501979 |
85 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291179631 CA365799083 |
86 | S>F | No |
ClinGen gnomAD |
|
|
CA365799137 rs375451846 |
90 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4023021 rs375451846 |
90 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs116211453 CA158396 RCV000120675 |
91 | S>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA365799164 rs1232388887 |
92 | F>L | No |
ClinGen TOPMed |
|
|
CA365799189 rs1215917088 |
93 | L>S | No |
ClinGen gnomAD |
|
|
CA4023022 rs760403373 |
95 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 97 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365799293 rs1340738514 |
100 | A>V | No |
ClinGen gnomAD |
|
|
CA4023026 rs756674110 |
101 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023025 rs756674110 |
101 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470691718 CA365799298 |
102 | A>T | No |
ClinGen gnomAD |
|
|
CA4023027 rs376602257 |
104 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1233373172 CA365799337 |
106 | W>R | No |
ClinGen gnomAD |
|
|
CA4023028 rs755559534 |
107 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs201725092 CA4023029 |
108 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4023030 rs748442558 |
108 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs770157237 CA4023031 |
110 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs933088230 CA148298687 |
110 | F>L | No |
ClinGen TOPMed |
|
|
rs1436481679 CA365799414 |
111 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs777922360 CA4023032 |
112 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532802319 CA4023035 |
113 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1373358213 CA365799460 |
114 | Q>R | No |
ClinGen TOPMed |
|
|
rs778147652 CA4023051 |
117 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA4023052 rs749445223 |
119 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs778851362 CA4023054 |
123 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA148301277 rs1042057378 |
124 | K>R | No |
ClinGen TOPMed |
|
|
rs370988571 CA148301294 |
125 | F>V | No |
ClinGen Ensembl |
|
|
rs775524054 CA4023057 |
126 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1583580198 CA365800091 |
128 | F>V | No |
ClinGen Ensembl |
|
|
rs746975708 CA4023058 |
129 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1197659728 CA365800136 |
131 | Y>C | No |
ClinGen gnomAD |
|
|
CA365800148 rs1253168224 |
132 | T>N | No |
ClinGen gnomAD |
|
|
rs1023611673 CA148301316 |
133 | P>S | No |
ClinGen TOPMed |
|
|
rs768541251 CA4023061 |
135 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148301317 rs988127782 |
135 | D>N | No |
ClinGen Ensembl |
|
|
rs768541251 CA4023060 |
135 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 137 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4023064 rs764876482 |
137 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA365800250 rs1583580285 |
138 | Y>D | No |
ClinGen Ensembl |
|
|
CA365800271 rs1159612686 |
139 | G>A | No |
ClinGen gnomAD |
|
|
rs1365628434 CA365800267 |
139 | G>S | No |
ClinGen TOPMed |
|
|
CA148301350 rs933452828 |
140 | A>S | No |
ClinGen Ensembl |
|
|
CA4023065 rs184795504 |
143 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs548413493 CA148301355 |
143 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs548413493 CA4023066 |
143 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148301370 rs377606983 |
144 | H>N | No |
ClinGen Ensembl |
|
|
rs765905067 CA4023067 |
144 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA158402 rs76700722 RCV000120677 |
146 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1181576028 CA365800381 |
147 | A>T | No |
ClinGen TOPMed |
|
|
rs587778243 RCV000120676 CA158399 |
151 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA4023068 rs756658799 |
151 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1433530064 CA365800502 |
155 | L>M | No |
ClinGen gnomAD |
|
|
rs764351149 CA4023069 |
155 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs754292849 CA4023070 |
157 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365800554 rs1234222895 |
159 | E>K | No |
ClinGen gnomAD |
|
|
rs757570726 CA4023071 |
160 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA365800594 rs1583580399 |
161 | A>G | No |
ClinGen Ensembl |
|
|
rs929541730 CA148301388 |
162 | A>S | No |
ClinGen Ensembl |
|
|
rs1207597984 CA365800606 |
163 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779141091 CA4023072 |
164 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203242924 CA365800617 |
164 | Y>H | No |
ClinGen TOPMed |
|
|
rs779141091 CA365800620 |
164 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772503814 CA4023073 |
165 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772503814 CA148301399 |
165 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568016767 CA4023076 |
166 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1311613 CA4023075 rs568016767 |
166 | T>M | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 168 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365800698 rs1286271280 |
169 | E>K | No |
ClinGen TOPMed |
|
|
rs1165374039 CA365800725 |
170 | P>S | No |
ClinGen gnomAD |
|
|
rs1420343565 CA365800765 |
173 | E>Q | No |
ClinGen gnomAD |
|
|
rs189387349 CA4023079 |
175 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365800840 rs1385805656 |
176 | E>D | No |
ClinGen gnomAD |
|
|
rs1162841756 CA365800816 |
176 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA365800817 rs1162841756 |
176 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1164679393 CA365800862 |
178 | L>P | No |
ClinGen TOPMed |
|
|
rs539275518 CA148301428 |
181 | Q>P | No |
ClinGen 1000Genomes |
|
| TCGA novel | 183 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239399117 CA365800959 |
184 | K>N | No |
ClinGen gnomAD |
|
|
CA365801026 rs1415858411 |
188 | K>* | No |
ClinGen gnomAD |
|
| TCGA novel | 188 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365801042 rs1295471630 |
189 | R>G | No |
ClinGen gnomAD |
|
|
CA148301433 rs180744638 |
189 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA4023082 rs772880442 |
190 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs762633749 CA4023083 |
191 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1166927444 CA365801121 |
192 | E>D | No |
ClinGen Ensembl |
|
|
rs186181182 CA4023084 |
192 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773904510 CA4023085 |
193 | K>Q | No |
ClinGen ExAC TOPMed |
|
|
rs533898130 CA4023086 |
194 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365801171 rs1487903729 |
195 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1421793370 CA365801202 |
197 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs757597689 CA148301460 |
197 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757597689 CA4023089 |
197 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs865949049 CA148301463 |
198 | K>T | No |
ClinGen TOPMed |
|
|
CA365801408 rs1396827797 |
201 | L>S | No |
ClinGen gnomAD |
|
|
rs1422378633 CA365801413 COSM1661627 |
202 | F>L | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA365801433 rs1448557797 |
204 | V>G | No |
ClinGen gnomAD |
|
|
CA4023104 rs771506919 |
205 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365801434 rs771506919 |
205 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365801436 rs587778245 |
205 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000120679 CA158408 rs587778245 |
205 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA4023105 rs527524515 |
206 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1305610151 CA365801439 |
206 | P>S | No |
ClinGen gnomAD |
|
|
CA365801443 COSM362493 rs1458150201 |
207 | P>A | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs765613569 CA4023106 |
207 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 207 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365801442 rs1458150201 |
207 | P>T | No |
ClinGen gnomAD |
|
|
rs750875796 CA4023107 |
208 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA148302020 rs368143155 |
211 | G>E | No |
ClinGen Ensembl |
|
|
CA365801474 rs1481466396 |
212 | T>A | No |
ClinGen gnomAD |
|
|
CA365801479 rs1274811901 |
212 | T>I | No |
ClinGen TOPMed |
|
|
CA365801493 rs1229720855 |
214 | C>F | No |
ClinGen TOPMed |
|
|
rs1367983796 CA365801505 |
216 | S>N | No |
ClinGen TOPMed |
|
|
rs549245814 CA148302025 CA4023108 |
216 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs75478555 RCV000120680 CA158411 |
217 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1195572254 CA365801515 |
218 | L>R | No |
ClinGen gnomAD |
|
|
rs1304778024 CA365801528 |
220 | P>S | No |
ClinGen TOPMed |
|
|
CA4023110 rs755043557 |
222 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA365801542 rs755043557 |
222 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs931213775 CA148302039 |
224 | P>L | No |
ClinGen Ensembl |
|
|
CA4023111 rs781169431 |
224 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs879334918 CA148302045 |
225 | R>C | No |
ClinGen TOPMed |
|
|
CA148302049 rs755777398 |
225 | R>H | No |
ClinGen gnomAD |
|
|
CA365801575 rs1374911364 |
228 | Q>* | No |
ClinGen TOPMed |
|
|
rs1169315344 CA365801583 |
229 | T>A | No |
ClinGen TOPMed |
|
|
CA365801590 rs1399079488 |
230 | V>I | No |
ClinGen gnomAD |
|
|
rs368929842 CA4023115 |
231 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778491314 CA4023117 COSM1204903 |
233 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs745540832 CA4023118 |
233 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745540832 CA4023119 |
233 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023120 rs774912249 |
235 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148302072 rs774912249 |
235 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762368842 CA4023121 |
237 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319752006 CA365801633 |
237 | H>Q | No |
ClinGen gnomAD |
|
|
rs762368842 CA365801630 |
237 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000120678 CA158405 rs587778244 |
238 | E>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA365801641 rs1216551682 |
239 | A>T | No |
ClinGen gnomAD |
|
|
rs117563305 CA365801653 |
240 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1344876869 CA365801655 |
241 | E>Q | No |
ClinGen TOPMed |
|
|
CA4023123 rs773862102 |
247 | T>I | No |
ClinGen ExAC |
|
|
CA365801699 rs1322540046 |
247 | T>S | No |
ClinGen gnomAD |
|
|
rs766879877 CA4023125 |
248 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199728092 CA4023124 |
248 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4023127 rs374832008 |
249 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365801728 rs1256201068 |
251 | T>I | No |
ClinGen gnomAD |
|
|
rs752783593 CA4023129 |
252 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1461621356 CA365801748 |
253 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA365801746 rs1461621356 |
253 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4023132 rs753798507 |
255 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201412215 CA4023134 |
255 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA365802173 rs1378714970 |
256 | S>N | No |
ClinGen gnomAD |
|
|
rs754506190 CA4023157 |
256 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023159 rs749800332 |
260 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365802224 rs1281593915 |
261 | S>N | No |
ClinGen gnomAD |
|
|
CA4023161 rs771628512 |
262 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1208451647 CA365802233 |
262 | H>R | No |
ClinGen gnomAD |
|
|
CA365802247 rs1582606192 |
263 | S>C | No |
ClinGen Ensembl |
|
|
rs774923718 CA4023162 |
265 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774923718 CA365802270 |
265 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148302985 rs199899311 |
267 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4023164 rs772506336 |
268 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA365802298 rs1275072103 |
268 | S>P | No |
ClinGen TOPMed |
|
|
rs760929797 CA4023166 |
271 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023165 rs775538020 |
271 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1157986029 CA365802345 |
272 | W>* | No |
ClinGen gnomAD |
|
|
rs764139430 CA4023167 |
272 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148302991 rs1028425898 |
273 | H>Y | No |
ClinGen gnomAD |
|
|
CA148302994 rs950719513 |
276 | H>Y | No |
ClinGen TOPMed |
|
|
rs765092961 CA4023171 |
277 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA4023172 rs750389768 |
278 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1304889560 CA365802442 |
279 | D>A | No |
ClinGen gnomAD |
|
|
CA4023173 rs758081885 |
279 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA365802439 rs758081885 |
279 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs142505459 RCV000120681 CA158414 |
280 | D>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 282 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308405394 CA365802527 |
284 | Y>C | No |
ClinGen gnomAD |
|
|
rs1308405394 CA365802529 |
284 | Y>F | No |
ClinGen gnomAD |
|
|
rs1278384165 CA365802517 |
284 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs751149387 CA4023174 |
285 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs763660220 CA4023176 |
287 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763660220 CA148303012 |
287 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200093583 CA4023175 |
287 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365802619 rs1177462993 |
290 | F>C | No |
ClinGen gnomAD |
|
|
CA365802657 rs1456968597 |
292 | L>* | No |
ClinGen TOPMed |
|
|
CA4023177 rs73557265 |
292 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746416085 CA4023180 |
294 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs755695050 CA4023178 |
294 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755695050 CA4023179 |
294 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023182 COSM1073862 rs780519469 |
296 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4023181 rs376022291 |
296 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365802763 rs1398365936 |
299 | A>P | No |
ClinGen gnomAD |
|
|
rs201070842 CA4023184 |
299 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372318147 CA4023211 |
302 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365803458 rs1379633000 |
302 | M>T | No |
ClinGen TOPMed |
|
|
rs201084173 CA4023212 |
304 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA158420 RCV000120683 rs75962473 |
304 | M>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1402289163 CA365803504 |
306 | S>C | No |
ClinGen gnomAD |
|
|
CA365803570 rs1340242237 |
309 | A>P | No |
ClinGen gnomAD |
|
|
CA365803566 rs1340242237 |
309 | A>T | No |
ClinGen gnomAD |
|
|
rs759352257 CA365803606 |
311 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs759352257 CA4023214 |
311 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA365803617 rs1582610238 |
312 | V>F | No |
ClinGen Ensembl |
|
|
CA4023216 rs200148930 |
314 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4023217 rs200148930 |
314 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757322837 CA4023220 |
316 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1488561548 CA365803676 |
316 | Y>H | No |
ClinGen gnomAD |
|
|
rs1002197335 CA148303874 |
317 | E>G | No |
ClinGen gnomAD |
|
|
CA148303880 rs553673341 |
318 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA365803756 rs1582610323 |
319 | S>N | No |
ClinGen Ensembl |
|
|
rs752085969 CA148303883 CA4023223 |
319 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138572067 CA4023225 |
320 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs116595351 CA4023224 |
320 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365803769 rs116595351 |
320 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs386706344 CA158417 |
320 | V>T | No |
ClinGen Ensembl |
|
|
rs770936783 CA4023229 |
324 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1302515970 CA365803872 |
325 | L>P | No |
ClinGen gnomAD |
|
|
rs745838431 CA4023231 |
327 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs774389434 CA4023230 |
327 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1021435451 CA148303913 |
328 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4023233 rs573565313 |
329 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365803937 rs1379335548 |
330 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 332 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322055377 CA365804026 |
334 | D>H | No |
ClinGen TOPMed |
|
|
rs1322055377 CA365804024 |
334 | D>N | No |
ClinGen TOPMed |
|
|
CA365804045 rs1242229204 |
335 | G>E | No |
ClinGen gnomAD |
|
|
rs763735707 CA4023235 |
339 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023236 rs776165675 |
340 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA4023237 rs761341159 |
340 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA148303948 rs369630645 |
341 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs987625385 CA148303937 |
341 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs76241582 CA4023240 |
342 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1381036788 CA365804136 |
342 | G>V | No |
ClinGen gnomAD |
|
|
CA365804155 rs1157401072 |
344 | F>I | No |
ClinGen gnomAD |
|
|
rs1157401072 CA365804153 |
344 | F>L | No |
ClinGen gnomAD |
|
|
rs753035495 CA4023242 |
345 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365804171 rs753035495 |
345 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023243 rs753035495 |
345 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749502644 CA4023245 |
346 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 347 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1366785501 CA365804206 |
348 | D>N | No |
ClinGen TOPMed |
|
|
CA4023247 rs779181460 |
349 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745789234 CA365804229 |
350 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs745789234 CA4023248 |
350 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs73557274 CA4023249 |
351 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746761501 CA4023250 |
351 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs73557274 CA158423 RCV000120684 |
351 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs73557274 CA365804236 |
351 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369851155 CA16040330 |
352 | I>M | No |
ClinGen ESP TOPMed |
|
|
CA570977473 rs1352855667 |
352 | I>R | No |
ClinGen gnomAD |
|
|
CA365804254 rs1233768674 |
352 | I>T | No |
ClinGen gnomAD |
|
|
CA4023251 rs768363008 |
354 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1342564846 CA365804290 |
355 | L>P | No |
ClinGen gnomAD |
|
|
CA365805142 rs1466882841 |
357 | G>D | No |
ClinGen gnomAD |
|
|
rs1028946716 CA148306114 |
361 | G>D | No |
ClinGen TOPMed gnomAD |
|
| rs750438274 | 364 | N>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA148306116 rs1044728958 |
365 | L>V | No |
ClinGen Ensembl |
|
|
rs769367602 CA4023276 |
366 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA365805357 rs1404155768 |
368 | P>L | No |
ClinGen gnomAD |
|
|
CA365805346 rs1388486994 |
368 | P>S | No |
ClinGen gnomAD |
|
|
rs1388486994 CA365805342 |
368 | P>T | No |
ClinGen gnomAD |
|
|
CA365805418 rs1348374281 |
372 | D>N | No |
ClinGen gnomAD |
|
|
CA365805438 rs1342094164 |
373 | F>I | No |
ClinGen gnomAD |
|
|
CA365805450 rs1582617883 |
373 | F>S | No |
ClinGen Ensembl |
|
|
rs903484817 CA148306117 |
374 | W>C | No |
ClinGen Ensembl |
|
| TCGA novel | 375 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365805517 rs1217033879 |
377 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs139396585 RCV000120685 CA158426 |
379 | S>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA148306130 rs1030735369 |
380 | Y>F | No |
ClinGen Ensembl |
|
|
rs762397526 CA4023277 |
381 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA158429 rs149517821 RCV000120686 |
382 | A>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA148306136 rs561406616 |
382 | A>P | No |
ClinGen Ensembl |
|
|
rs776034165 CA4023278 |
384 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA365805677 rs1217929345 |
386 | E>* | No |
ClinGen gnomAD |
|
|
CA148306149 rs200690490 |
387 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA148306157 rs977240861 |
388 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs573437951 CA365805755 |
389 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365805767 rs1377933431 |
390 | V>E | No |
ClinGen TOPMed |
|
|
CA4023282 rs372903555 |
390 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4023283 rs762274234 |
391 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA365805774 rs1177543153 |
391 | D>N | No |
ClinGen TOPMed |
|
|
CA148306163 rs938578760 |
391 | D>V | No |
ClinGen TOPMed |
|
|
TCGA novel CA365805798 rs1423942322 |
392 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA4023284 rs765499367 |
392 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023286 rs367782648 |
394 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4023287 rs529620990 |
395 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751496361 CA4023288 |
396 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1246526926 CA365805899 |
399 | S>* | No |
ClinGen TOPMed |
|
|
rs1425648527 CA365806589 |
401 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4023312 rs756925456 |
403 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866113921 CA148314553 |
404 | E>K | No |
ClinGen Ensembl |
|
|
rs778633299 COSM3715415 CA4023313 |
406 | L>V | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA365806773 rs1333429728 |
409 | L>Q | No |
ClinGen gnomAD |
|
|
rs771634204 CA4023316 |
413 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA365806836 rs1275915752 |
414 | G>S | No |
ClinGen gnomAD |
|
|
rs777238666 CA4023317 |
415 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023320 rs773772289 |
416 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA365806923 rs1322386856 |
417 | F>S | No |
ClinGen gnomAD |
|
|
CA365806949 rs181427570 |
418 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4023321 rs181427570 |
418 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4023324 rs759490329 |
420 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs767675274 CA4023325 |
421 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4023326 rs752608962 |
421 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA4023327 rs756100667 |
422 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA365807054 rs1482372284 |
426 | G>V | No |
ClinGen TOPMed |
|
|
CA4023330 rs757090517 |
428 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023329 rs753564705 |
428 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs778381235 CA4023331 |
429 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1324831652 CA365807104 |
430 | H>Q | No |
ClinGen gnomAD |
|
|
CA365808006 rs1226130072 CA365808004 |
437 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs542482066 CA4023353 |
438 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758131540 CA4023352 |
438 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs542482066 CA4023354 |
438 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4023355 rs754555243 |
439 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 439 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4023358 rs779392465 |
440 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79294486 CA158341 RCV000120656 |
440 | W>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs79294486 CA4023357 |
440 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746071732 CA4023359 |
441 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 443 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772213688 CA4023360 |
443 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365808086 rs1490908060 |
444 | P>L | No |
ClinGen TOPMed |
|
|
rs1239320115 CA365808110 |
446 | S>F | No |
ClinGen gnomAD |
|
|
CA365808121 rs1442806353 |
447 | I>T | No |
ClinGen gnomAD |
|
|
rs531293772 CA4023361 |
448 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365808126 rs531293772 |
448 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1381438606 CA365808133 |
449 | F>C | No |
ClinGen gnomAD |
|
|
CA365808137 rs1421976631 |
449 | F>L | No |
ClinGen gnomAD |
|
|
CA148315462 rs566762327 |
450 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs760698749 CA4023362 |
450 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA4023364 rs768754641 |
451 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365808146 rs1334353360 |
451 | E>A | No |
ClinGen gnomAD |
|
|
rs768754641 CA4023363 |
451 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761862346 CA148315473 |
452 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023365 rs761862346 |
452 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365808171 rs1314384484 |
455 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA365808172 rs1314384484 |
455 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1406343774 CA365808176 |
456 | T>A | No |
ClinGen TOPMed |
|
|
rs750301796 CA4023367 |
456 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054684312 CA148315484 |
459 | S>T | No |
ClinGen TOPMed |
|
|
CA4023369 rs766077407 |
461 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA148315489 rs904788976 |
463 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs868208598 CA148315493 |
467 | T>I | No |
ClinGen gnomAD |
|
|
rs370668716 CA4023370 |
469 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754502435 CA4023371 |
470 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023372 rs780894567 |
471 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780894567 CA365808275 |
471 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023373 rs754286977 |
473 | K>* | No |
ClinGen ExAC |
|
|
CA365808296 rs1420317131 |
474 | Q>* | No |
ClinGen gnomAD |
|
|
CA365808310 rs1198227739 |
476 | Y>C | No |
ClinGen TOPMed |
|
|
CA4023375 rs779291281 |
476 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4023376 rs746185145 COSM3829170 |
477 | P>A | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA365808318 rs1447701496 |
477 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4023377 rs772450149 |
481 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs182703053 CA4023378 |
482 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs12198781 VAR_051984 CA148315509 |
483 | Q>H | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs900822764 CA148315514 |
485 | S>T | No |
ClinGen Ensembl |
|
|
CA4023381 rs200518760 |
487 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4023380 rs768701369 |
487 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA4023383 rs529447119 |
488 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529447119 CA4023382 |
488 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023385 rs773040327 |
490 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA365808400 rs1582632400 |
490 | M>V | No |
ClinGen Ensembl |
|
|
rs1263468810 CA365808408 |
491 | I>V | No |
ClinGen TOPMed |
|
|
CA4023402 rs376887350 |
494 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212086496 CA365808695 |
498 | T>I | No |
ClinGen gnomAD |
|
|
rs1188402218 CA365808711 |
499 | M>T | No |
ClinGen gnomAD |
|
|
rs749283749 CA4023404 |
500 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365808760 rs1446079169 |
501 | M>I | No |
ClinGen TOPMed |
|
|
CA4023405 rs368710255 |
503 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA158344 RCV000120657 rs201270230 |
504 | I>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs759407436 CA4023407 |
507 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365808869 rs1458349881 |
508 | Q>K | No |
ClinGen gnomAD |
|
|
rs1050963528 CA148316555 |
509 | D>G | No |
ClinGen TOPMed |
|
|
CA4023409 rs202079003 |
511 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365808919 rs1363507596 |
511 | A>T | No |
ClinGen gnomAD |
|
|
CA158347 RCV000120658 rs202079003 |
511 | A>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs373737144 CA4023411 |
513 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4023412 rs758963265 |
515 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA365809314 rs1294954715 |
517 | G>V | No |
ClinGen gnomAD |
|
|
CA4023413 rs766728113 |
519 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA148316580 rs938287901 |
521 | L>S | No |
ClinGen Ensembl |
|
|
CA4023415 rs755352791 |
522 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA4023417 COSM1073864 rs748354960 |
524 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA365809359 rs1486650163 |
524 | E>A | No |
ClinGen gnomAD |
|
|
CA148316587 rs779322791 |
525 | D>G | No |
ClinGen Ensembl |
|
|
CA158350 rs1529151 RCV000120659 VAR_043482 |
527 | E>K | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs374302917 CA4023436 |
528 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4023437 rs532970509 |
528 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs532970509 CA148320307 |
528 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365810020 rs1562487326 |
529 | N>S | No |
ClinGen Ensembl |
|
|
rs923535759 CA148320317 |
531 | V>A | No |
ClinGen Ensembl |
|
|
rs376608071 CA365810031 CA4023439 |
531 | V>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA365810035 rs1178981539 |
532 | E>Q | No |
ClinGen TOPMed |
|
|
CA16040329 rs201721415 |
536 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1281731131 CA365810081 |
538 | T>A | No |
ClinGen gnomAD |
|
|
CA4023443 rs760683376 |
541 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA148320351 rs950088975 |
543 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA365810128 rs1305932180 |
545 | N>D | No |
ClinGen gnomAD |
|
|
CA365810131 rs1323785503 |
545 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4023445 rs779772772 |
546 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766497819 CA4023447 |
549 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA4023448 rs768130093 |
550 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1562487428 CA365810175 |
551 | A>V | No |
ClinGen Ensembl |
|
|
rs1234504191 CA365810178 |
552 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 555 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402050608 CA365810651 |
556 | E>D | No |
ClinGen TOPMed |
|
|
CA365810657 rs1480443737 |
557 | R>I | No |
ClinGen TOPMed |
|
|
CA158356 RCV000120661 rs375958674 |
558 | I>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs587778239 RCV000120660 |
558 | I>missing | No |
ClinVar dbSNP |
|
|
rs1409929997 CA365810668 |
559 | L>F | No |
ClinGen gnomAD |
|
|
CA4023470 rs188692292 |
561 | K>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4023469 rs188692292 |
561 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1246469972 CA365810689 |
562 | D>G | No |
ClinGen TOPMed |
|
|
CA4023472 rs772772800 |
562 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023473 rs748832247 |
566 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA4023475 rs200519034 |
567 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4023476 rs200797197 |
567 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1213937548 CA365810726 |
568 | A>D | No |
ClinGen gnomAD |
|
|
rs1582652152 CA365810723 |
568 | A>T | No |
ClinGen Ensembl |
|
|
RCV000120665 rs138935097 CA158368 |
570 | V>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 570 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4023477 rs762498972 |
570 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365810765 rs1268515615 |
574 | L>P | No |
ClinGen gnomAD |
|
|
CA365810771 rs1186543960 |
575 | L>* | No |
ClinGen Ensembl |
|
|
CA4023479 rs201658402 |
576 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA148323248 rs1048592006 |
577 | S>N | No |
ClinGen gnomAD |
|
|
rs371124566 CA4023481 |
578 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365810789 rs371124566 |
578 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365810797 rs1164822613 |
579 | R>K | No |
ClinGen gnomAD |
|
|
RCV000120662 CA158359 rs587778240 |
580 | K>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA4023485 rs199632951 |
581 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365810820 rs1562489792 |
582 | V>A | No |
ClinGen Ensembl |
|
|
rs117411218 CA4023486 |
582 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777491833 CA4023488 |
584 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs906727063 CA148323287 |
584 | I>T | No |
ClinGen Ensembl |
|
|
CA365810838 rs1319393992 |
585 | L>R | No |
ClinGen TOPMed |
|
|
rs770505652 CA4023490 |
586 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs775828383 CA4023491 |
586 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 587 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747601567 CA4023492 |
587 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769129930 CA4023493 |
588 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1446568322 CA365810856 |
589 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1425167556 CA365810870 |
590 | D>N | No |
ClinGen TOPMed |
|
|
CA4023496 rs367855099 |
591 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000120664 CA158365 rs11968285 VAR_043483 |
594 | A>T | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA148323342 rs1051794427 |
596 | L>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 598 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364759164 CA365811000 |
600 | L>F | No |
ClinGen gnomAD |
|
|
CA158362 rs587778241 RCV000120663 |
601 | S>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA365811019 rs1159979935 |
602 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA365811029 rs1582652405 |
603 | N>D | No |
ClinGen Ensembl |
|
|
rs368116476 CA4023500 |
605 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766524469 CA4023499 |
605 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs368116476 CA365811065 |
605 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1362723441 CA365811088 |
607 | L>P | No |
ClinGen TOPMed |
|
|
rs752429161 CA4023505 |
608 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1278065072 CA365811128 |
610 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755923090 CA4023506 |
611 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1562489906 CA365811151 |
612 | I>T | No |
ClinGen Ensembl |
|
|
CA4023508 rs753566309 |
614 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023507 rs777250319 |
614 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA365811190 rs1300563101 |
615 | I>T | No |
ClinGen TOPMed |
|
|
CA4023513 rs781768436 |
624 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023514 rs748477906 |
625 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365811288 rs748477906 |
625 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs749615664 | 627 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771123302 CA4023538 |
628 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4023539 rs774575980 |
628 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 630 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225543531 CA365811345 |
631 | D>E | No |
ClinGen TOPMed |
|
|
rs772178686 CA4023541 |
633 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA365811359 rs1325905808 |
634 | R>* | No |
ClinGen TOPMed |
|
|
CA4023542 rs372946686 |
634 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372946686 CA4023543 |
634 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4023545 rs763792288 |
635 | D>E | No |
ClinGen ExAC |
|
|
CA148324693 rs775218066 |
635 | D>V | No |
ClinGen Ensembl |
|
|
rs1261848516 CA365811370 |
636 | R>G | No |
ClinGen gnomAD |
|
|
CA148324706 rs1023679515 |
637 | L>P | No |
ClinGen Ensembl |
|
|
CA365811401 rs1425127779 |
640 | W>* | No |
ClinGen gnomAD |
|
|
CA148324737 rs971901485 |
640 | W>* | No |
ClinGen TOPMed |
|
|
CA4023549 rs764896932 |
641 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA365811404 rs1391813979 |
641 | G>S | No |
ClinGen TOPMed |
|
|
rs750133754 CA4023550 |
643 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA4023551 rs757954383 |
644 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023553 rs373301762 |
645 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766038787 CA4023552 |
645 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs534109910 CA4023554 |
645 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA365811429 rs373301762 |
645 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1384204855 CA365811436 |
646 | V>G | No |
ClinGen gnomAD |
|
|
rs778152384 CA365811432 |
646 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778152384 CA4023555 |
646 | V>M | Variant assessed as Somatic; 4.639e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199963526 CA365811440 |
647 | G>A | No |
ClinGen TOPMed |
|
|
rs199963526 CA148324795 |
647 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 647 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4023557 rs757591300 |
649 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255957132 CA365811451 |
649 | I>V | No |
ClinGen TOPMed |
|
|
rs189105250 CA4023558 |
651 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs550284167 CA4023560 |
652 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs568206269 CA148324816 |
656 | Q>* | No |
ClinGen Ensembl |
|
|
rs1486598575 CA365811516 |
658 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs775614603 CA4023561 |
659 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768581573 CA4023563 |
661 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs776457446 CA365811532 |
661 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023564 rs776457446 |
661 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768581573 CA148324840 |
661 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4023565 rs776457446 |
661 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 662 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4023566 rs562537216 |
662 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365811537 rs562537216 |
662 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4023568 rs762756058 |
663 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772980603 CA4023567 |
663 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1160195999 CA365811547 |
664 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4023569 rs766130385 |
666 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs982423721 CA148324864 |
667 | Y>* | No |
ClinGen TOPMed |
|
|
CA4023571 rs763597678 |
668 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA4023570 rs751052032 |
668 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs754340335 CA4023573 |
669 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4023572 rs766941696 |
669 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409008310 CA365811628 |
670 | I>M | No |
ClinGen TOPMed |
|
|
rs757618216 CA4023575 |
673 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4023577 rs779307190 |
674 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779307190 CA4023576 |
674 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758549443 CA4023578 |
676 | K>Q | No |
ClinGen ExAC |
|
|
CA148327691 rs373754055 |
677 | C>Y | No |
ClinGen ESP |
|
|
rs1254341814 CA365811931 |
679 | E>* | No |
ClinGen TOPMed |
|
|
COSM256842 CA148327705 rs866985798 |
680 | M>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1353171711 CA365811942 |
680 | M>T | No |
ClinGen gnomAD |
|
|
rs1409566086 CA365811954 |
682 | P>S | No |
ClinGen gnomAD |
|
|
rs1345770217 CA365811966 |
684 | F>V | No |
ClinGen gnomAD |
|
|
rs200895974 CA4023613 |
685 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754540928 CA365811974 |
685 | R>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1073866 rs754540928 CA4023614 |
685 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4023615 rs750896814 |
686 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA4023618 rs182370964 |
687 | F>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs182370964 CA4023617 |
687 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755085374 CA365811988 |
688 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs755085374 CA4023619 |
688 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4023620 rs781467404 |
689 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4023621 rs201714630 |
691 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4023623 rs777890902 |
692 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs756234246 CA4023622 |
692 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4023624 rs749191757 |
693 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA4023626 rs202056285 |
693 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA4023627 rs745672208 |
694 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs534510373 CA365812031 |
695 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023629 rs534510373 |
695 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200137382 CA4023628 |
695 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs746561633 | 700 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4023631 rs768112456 |
701 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1582658759 CA365812137 |
710 | S>F | No |
ClinGen Ensembl |
|
|
rs754030138 CA4023658 |
710 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA4023659 rs200152435 COSM385499 |
711 | R>* | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA4023660 rs374967125 COSM1073867 |
711 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs750334481 CA4023662 |
713 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758147493 CA4023663 |
715 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1337384610 CA365812178 |
717 | L>I | No |
ClinGen gnomAD |
|
|
rs369123657 CA4023666 |
718 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369123657 CA365812185 |
718 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4023667 rs780805842 |
720 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA148328182 rs886964224 |
721 | Y>S | No |
ClinGen Ensembl |
|
|
CA4023669 rs79865247 |
722 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779313799 CA4023670 |
723 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000120667 rs199701983 CA158372 |
727 | T>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs199701983 CA365812243 |
727 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365812254 rs1376271947 |
729 | A>E | No |
ClinGen gnomAD |
|
|
CA4023673 rs373179156 |
730 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144150484 CA158375 RCV000120668 |
731 | H>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA365812275 rs1251714477 |
732 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs776962518 CA4023675 |
733 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA365812277 rs1362639091 |
733 | D>N | No |
ClinGen TOPMed |
|
|
rs765310384 CA4023677 |
734 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373798235 CA4023678 |
734 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765310384 CA365812284 |
734 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148328270 rs780548516 |
740 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751410242 CA365812329 |
741 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751410242 CA4023681 |
741 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306471546 CA365812337 |
742 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA365812332 rs967534328 |
742 | D>H | No |
ClinGen gnomAD |
|
|
CA148328316 rs967534328 |
742 | D>N | No |
ClinGen gnomAD |
|
|
RCV000120669 CA158378 rs199963616 |
743 | Q>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4023684 rs17067993 |
743 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199963616 CA365812339 |
743 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365812348 rs1285305398 |
744 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 746 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365812379 rs1233214324 |
748 | K>T | No |
ClinGen gnomAD |
|
|
rs1252369769 CA365812387 |
749 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA365812388 rs1252369769 |
749 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs780685844 CA4023688 |
750 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs772765431 CA4023687 |
750 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA365812399 rs769101783 |
751 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023690 rs769101783 |
751 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747419198 CA4023689 |
751 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268907933 CA365812401 |
752 | D>N | No |
ClinGen gnomAD |
|
|
CA4023691 rs777015671 |
753 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430354600 CA365812414 |
753 | Q>H | No |
ClinGen TOPMed |
|
|
rs201942921 CA148329147 |
754 | M>V | No |
ClinGen Ensembl |
|
|
CA148329157 rs755404937 |
755 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289526422 CA365812447 |
756 | Q>L | No |
ClinGen gnomAD |
|
|
rs1262840814 CA365812460 |
758 | I>F | No |
ClinGen TOPMed |
|
|
CA365812466 rs1390874612 |
759 | T>A | No |
ClinGen gnomAD |
|
|
CA148329175 rs956855535 |
761 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs151070323 CA4023712 |
762 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748453270 CA4023713 |
763 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA365812497 rs1384081170 |
763 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs544168481 CA4023715 |
767 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA365812526 rs1243567436 |
768 | Q>* | No |
ClinGen gnomAD |
|
|
CA148329187 rs888634767 |
768 | Q>R | No |
ClinGen Ensembl |
|
|
rs749405773 CA4023716 |
770 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs552798793 CA4023717 |
771 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA148329218 COSM2149646 rs758762878 |
774 | C>Y | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1430031777 CA365799435 |
781 | N>I | No |
ClinGen gnomAD |
|
|
rs772098071 CA4023739 |
782 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA148302734 rs1001098131 |
783 | Y>F | No |
ClinGen Ensembl |
|
|
rs1463423311 CA365799453 |
783 | Y>H | No |
ClinGen TOPMed |
|
|
CA365799490 rs1562494450 |
787 | V>I | No |
ClinGen Ensembl |
|
|
CA148302738 rs1052530694 |
788 | Q>* | No |
ClinGen Ensembl |
|
|
rs776359008 CA4023743 |
789 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA4023742 rs763747189 |
789 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs763747189 CA365799503 |
789 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA365799504 rs763747189 |
789 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1351959628 CA365799509 |
790 | V>I | No |
ClinGen gnomAD |
|
|
rs761489110 CA148302751 |
791 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761489110 CA4023744 |
791 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4023745 rs369511510 |
792 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1367636984 CA365799528 |
793 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA365799527 rs1367636984 |
793 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 795 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311450748 CA365799551 |
796 | C>Y | No |
ClinGen gnomAD |
|
|
rs768105106 CA4023748 |
798 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 798 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1181676148 CA365799583 |
800 | I>R | No |
ClinGen gnomAD |
|
|
CA4023750 rs376683048 |
800 | I>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs938493681 CA148302769 |
805 | R>K | No |
ClinGen TOPMed |
|
|
CA148307392 rs781513042 |
808 | E>Q | No |
ClinGen Ensembl |
|
|
rs753256512 CA4023768 |
809 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs761155385 CA4023769 |
809 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764651475 CA4023770 |
811 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1562500564 CA365802530 |
812 | D>N | No |
ClinGen Ensembl |
|
|
CA4023771 rs563933704 |
813 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1435790458 CA365802607 |
816 | F>C | No |
ClinGen gnomAD |
|
|
CA4023773 rs779137530 |
818 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs750596502 CA4023774 |
819 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA365802674 rs1373830058 |
820 | D>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 822 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4023776 rs779930385 |
824 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226780703 CA365802769 |
826 | S>R | No |
ClinGen gnomAD |
|
|
CA365802779 rs373124968 |
827 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373124968 CA4023777 |
827 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA158384 rs539507764 RCV000120671 |
827 | R>W | Variant assessed as Somatic; 4.639e-05 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA365802788 rs1246714133 |
828 | G>D | No |
ClinGen gnomAD |
|
|
rs1025835663 CA148307423 |
829 | T>I | No |
ClinGen Ensembl |
|
|
rs377320722 CA4023779 |
830 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781250433 CA4023778 |
830 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA148307432 rs951650360 |
831 | H>P | No |
ClinGen Ensembl |
|
|
rs769668241 CA4023780 |
831 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 832 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365802849 rs1265560040 |
833 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 833 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365802900 rs1224043451 |
837 | T>P | No |
ClinGen TOPMed |
|
|
CA4023781 rs773017438 |
837 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs762449549 CA4023782 |
839 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs918101878 CA148307450 |
845 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs915636455 CA148307452 |
847 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 848 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16040331 rs969506790 |
850 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4023787 rs754304755 |
851 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000120672 COSM1073869 rs371621945 CA158387 |
852 | R>Q | kidney oesophagus endometrium [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200833857 CA4023788 |
852 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA148307470 rs936300896 |
853 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs750647384 CA4023789 |
854 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4023790 rs758615200 |
855 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329114957 CA365803099 |
856 | E>K | No |
ClinGen gnomAD |
|
|
CA365803125 rs1281232478 |
858 | I>V | No |
ClinGen gnomAD |
|
|
CA4023792 rs751638642 |
859 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA365803148 rs1185053200 |
860 | D>G | No |
ClinGen gnomAD |
|
|
rs755051613 CA4023793 |
861 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1431916772 CA365803327 |
863 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA4023814 rs756180933 |
866 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs777835498 CA4023815 |
869 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs371724552 CA4023816 |
870 | L>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4023817 rs757038636 |
872 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA158390 rs374898524 RCV000120673 |
872 | G>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs374898524 CA365803454 |
872 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 873 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200547799 CA4023818 |
875 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1272035853 CA365803596 |
879 | C>S | No |
ClinGen gnomAD |
|
|
rs746506729 CA4023821 |
880 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs13193114 CA148307918 |
881 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs13193114 CA4023822 |
881 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA365803644 rs1490991046 |
882 | E>A | No |
ClinGen TOPMed |
|
|
CA148307921 rs949506952 |
883 | I>T | No |
ClinGen Ensembl |
|
|
CA365803675 rs1268792304 |
884 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 884 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265840771 CA365803672 |
884 | E>Q | No |
ClinGen TOPMed |
|
|
rs1449816174 CA365803685 |
885 | D>N | No |
ClinGen gnomAD |
|
|
rs372482333 CA4023824 |
886 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365803805 rs1451096412 |
892 | S>T | No |
ClinGen gnomAD |
|
|
rs201248346 CA4023825 |
893 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365803817 rs1582681331 |
893 | V>I | No |
ClinGen Ensembl |
|
|
rs774447151 CA4023826 |
894 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA148307936 rs560012344 |
895 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs181439920 CA4023828 |
895 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs181439920 CA4023827 COSM1073871 |
895 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 896 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752877399 CA4023829 |
899 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760810091 CA4023830 |
902 | M>T | No |
ClinGen ExAC |
|
|
CA148307946 rs1015210462 |
903 | E>K | No |
ClinGen TOPMed |
|
|
rs1367877297 CA365804051 |
905 | K>G | No |
ClinGen gnomAD |
|
|
CA365804048 rs1367877297 CA365804044 |
905 | K>R | No |
ClinGen gnomAD |
No associated diseases with Q008S8
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cellular anatomical entity | A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q969H0 | FBXW7 | F-box/WD repeat-containing protein 7 | Homo sapiens (Human) | PR |
| Q8N3Y1 | FBXW8 | F-box/WD repeat-containing protein 8 | Homo sapiens (Human) | PR |
| Q9H8V3 | ECT2 | Protein ECT2 | Homo sapiens (Human) | PR |
| Q8BIA4 | Fbxw8 | F-box/WD repeat-containing protein 8 | Mus musculus (Mouse) | PR |
| Q9QZM9 | Fbxo16 | F-box only protein 16 | Mus musculus (Mouse) | PR |
| Q07139 | Ect2 | Protein ECT2 | Mus musculus (Mouse) | PR |
| P0DL28 | Fbxw8 | F-box/WD repeat-containing protein 8 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MESFHTRFSA | WTPFSNKSLN | RQLFQERVAL | ISHWFDLWTN | KQRQEFLFAI | FLRCTKSQLR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FVQDWFSERM | QVAKVDFSTV | LPRFISLYIF | SFLSPKDLCA | AAQVSWPWKF | LTEQDCLWMP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KCVKFGWFLP | YTPTDNEYGA | WKRHYIACVS | HLDWLTPREA | AATYGTLNEP | KTEDEELLER |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QREKCLRKRI | WEKIALRKKE | LFKVRPPWVS | GTCCSSVLKP | RCQPRLSQTV | RERVGLHEAL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EKQLVLTSLE | TLPKRSNISG | SHSYPLLSKK | NWHGVHKNDD | RSSYALRPHF | MLISSRIPAY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EMVMESVKAG | VVSVVYEHSV | TLESLLYLIE | KALDGQKAQS | IGIFSDGDSR | EINLLQGYKI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GVKNLLRPEV | RDFWEKLGSY | VATEEEGGHV | DFFVPLGASE | AGIEVLSQLS | QLTGTFFTAP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TGIATGSYQH | ILSDWLGSQW | GKAPSSIYFC | ESKLQTWSSF | TDFLEETLKT | VRKQLYPFFK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ELQKSISGRM | IGQFMFDTMG | MTNILNNQDT | AQALADGLME | LSKEDSERNV | VEDNSWDTKS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RLSKNDLNFE | ALINLERILQ | KDSAEKRARV | VRELLQSERK | YVQILEIVRD | VYVAPLKAAL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SSNRAILSAA | NIQIIFCDIL | QILSLNRQFL | DNLRDRLQEW | GPAHCVGEIV | TKFGSQLNTY |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TNFFNNYPVI | LKTIEKCREM | IPAFRTFLKR | HDKTIVTKML | SLPELLLYPS | RRFEEYLNLL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YAVRLHTPAE | HVDRGDLTTA | IDQIKKYKGY | IDQMKQNITM | KDHLSDIQRI | IWGCPTLSEV |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NRYLIRVQDV | AQLHCCDEEI | SFSLRLYEHI | HDLSLFLFND | ALLVSSRGTS | HTPFERTSKT |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TYQFIASVAL | HRLLIENIPD | SKYVKNAFIL | QGPKYKWICA | TEIEDDKFLW | LSVLRNAIKS |
| SMEK |