O94874
PR
Gene name |
UFL1 |
Protein name |
E3 UFM1-protein ligase 1 |
Names |
E3 UFM1-protein transferase 1, Multiple alpha-helix protein located at ER, Novel LZAP-binding protein, Regulator of C53/LZAP and DDRGK1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23376 |
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
9 structures for O94874
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8B9X | X-ray | 307 A | A/B | 27-200 | PDB |
| 8C0D | X-ray | 256 A | A/D | 1-179 | PDB |
| 8OHD | EM | 310 A | A | 1-794 | PDB |
| 8OJ0 | EM | 330 A | A | 1-794 | PDB |
| 8OJ5 | EM | 290 A | A | 1-794 | PDB |
| 8OJ8 | EM | 330 A | A | 1-794 | PDB |
| 8QFC | EM | 320 A | B | 1-794 | PDB |
| 8QFD | EM | 220 A | s | 1-794 | PDB |
| AF-O94874-F1 | Predicted | AlphaFoldDB |
683 variants for O94874
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs749960877 CA3930075 |
3 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA365088473 rs1339014468 |
3 | D>N | No |
ClinGen TOPMed |
|
|
rs1428735908 CA365088489 |
4 | A>S | No |
ClinGen TOPMed |
|
|
rs1319457965 CA365088542 |
5 | W>* | No |
ClinGen gnomAD |
|
|
rs1424511167 CA365088563 |
6 | E>G | No |
ClinGen Ensembl |
|
|
rs757866071 CA365088554 |
6 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3930077 rs757866071 |
6 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3930080 rs751951771 |
7 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs148081377 CA3930079 |
7 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1697656 CA365088580 rs1248302141 |
7 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs755427839 CA3930083 |
9 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930082 rs755427839 |
9 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365088657 rs1239092602 |
9 | R>W | No |
ClinGen gnomAD |
|
|
CA3930085 rs756378970 |
10 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA3930081 rs749008816 |
11 | L>* | No |
ClinGen ExAC |
|
|
rs1389728317 CA365088694 |
11 | L>S | No |
ClinGen gnomAD |
|
|
CA3930087 rs749407211 |
12 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA365088746 rs1342720813 |
13 | A>T | No |
ClinGen gnomAD |
|
|
CA365088786 rs1205230369 |
14 | D>E | No |
ClinGen TOPMed |
|
|
rs1243361167 CA365088770 |
14 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 17 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1261579898 CA365088834 |
17 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA365088832 rs1261579898 |
17 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA365088847 rs1353607061 |
18 | A>V | No |
ClinGen gnomAD |
|
|
CA3930091 rs768536494 |
24 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1227136672 CA365088908 |
24 | T>S | No |
ClinGen TOPMed |
|
|
CA365088919 rs1442847295 |
25 | Q>* | No |
ClinGen gnomAD |
|
|
rs776268284 CA3930092 |
25 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930093 rs761621268 |
26 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA365089026 rs1562249506 |
29 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs373192906 CA3930122 |
30 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3930121 rs761182385 |
30 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194171736 CA365089051 |
31 | N>S | No |
ClinGen gnomAD |
|
|
rs537614097 CA143893735 |
32 | C>Y | No |
ClinGen 1000Genomes |
|
|
rs1269687841 CA365089096 |
35 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs779149142 CA3930125 |
36 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs182641916 CA3930124 |
36 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750501996 CA3930126 |
38 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA3930127 rs758438707 |
38 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 38 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207979573 CA365089137 |
39 | L>F | No |
ClinGen TOPMed |
|
|
rs748064010 CA3930129 |
39 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1294809754 CA365089141 |
40 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 42 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA143893799 rs935199510 |
46 | E>* | No |
ClinGen TOPMed |
|
|
rs142787840 CA3930132 |
46 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3930131 rs777513131 |
46 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA365089255 rs1230066687 |
49 | H>D | No |
ClinGen TOPMed |
|
|
CA365089251 rs1230066687 |
49 | H>Y | No |
ClinGen TOPMed |
|
|
rs770509198 CA3930133 |
50 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365089285 rs770509198 |
50 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305726841 CA365089298 |
51 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3930135 rs758970606 |
52 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA365089308 rs1447972995 |
52 | D>N | No |
ClinGen TOPMed |
|
|
CA365089321 rs1267318682 |
53 | G>R | No |
ClinGen gnomAD |
|
|
rs1357213220 CA365089331 |
53 | G>V | No |
ClinGen gnomAD |
|
|
CA365089347 rs1355412386 |
54 | K>R | No |
ClinGen TOPMed |
|
|
CA365089388 rs1213297829 |
56 | Y>C | No |
ClinGen gnomAD |
|
|
rs771601158 CA3930137 |
58 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3930138 rs776209390 |
59 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761235969 CA3930139 |
59 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA365089423 rs776209390 |
59 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1582435468 CA365089441 |
60 | A>T | No |
ClinGen Ensembl |
|
|
rs1427266478 CA365089470 |
61 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA365089467 rs1425587857 |
61 | Q>P | No |
ClinGen TOPMed |
|
|
CA365089503 rs1252539136 |
63 | S>N | No |
ClinGen TOPMed |
|
|
CA365089526 rs1582435486 |
65 | E>Q | No |
ClinGen Ensembl |
|
|
CA143893924 rs905833885 |
66 | M>I | No |
ClinGen TOPMed |
|
|
CA365089559 rs1339865993 |
66 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 67 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3930141 rs754277447 |
68 | D>E | No |
ClinGen ExAC |
|
|
rs200328113 CA3930142 |
71 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1162315545 CA365089764 |
71 | H>Y | No |
ClinGen gnomAD |
|
|
CA365089828 rs1435490428 |
73 | R>Q | No |
ClinGen gnomAD |
|
|
CA3930168 rs138867475 |
76 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs911815416 CA143894860 |
76 | R>Q | No |
ClinGen TOPMed |
|
|
rs560687876 CA143894869 |
77 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3930169 rs765619628 |
81 | D>N | No |
ClinGen ExAC |
|
|
rs1306605442 CA365090866 |
82 | L>V | No |
ClinGen gnomAD |
|
|
rs773372068 CA3930170 |
83 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1212705747 CA365090881 |
83 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3930171 rs763202582 |
84 | Q>* | No |
ClinGen ExAC |
|
|
rs74737097 CA3930187 |
85 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1452382527 CA365091259 |
89 | D>Y | No |
ClinGen gnomAD |
|
|
rs549879639 CA3930189 |
90 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365091366 rs1582436472 |
92 | H>R | No |
ClinGen Ensembl |
|
|
rs1390731610 CA365091384 |
93 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1231821780 CA365091469 |
96 | R>T | No |
ClinGen TOPMed |
|
|
CA3930190 rs773603464 |
98 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3930191 rs569287256 |
100 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3930192 rs569287256 |
100 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 102 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1352919974 CA365091679 |
104 | E>* | No |
ClinGen gnomAD |
|
|
rs371449954 CA143895668 |
106 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA365091733 rs1294407522 |
107 | V>D | No |
ClinGen gnomAD |
|
|
rs1271885451 CA365091728 |
107 | V>I | No |
ClinGen TOPMed |
|
|
CA365091773 rs1370677313 |
109 | L>I | No |
ClinGen gnomAD |
|
|
rs1582436509 CA365091815 |
111 | L>S | No |
ClinGen Ensembl |
|
|
rs1300385466 CA365091813 |
111 | L>V | No |
ClinGen gnomAD |
|
|
CA365091907 rs1343541230 |
116 | D>V | No |
ClinGen gnomAD |
|
|
rs767568236 CA3930195 |
117 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3930219 rs775664571 |
118 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3930220 rs150559148 |
119 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365092327 rs1190899324 |
119 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs368118548 CA3930224 |
122 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3930223 rs368118548 |
122 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3930222 rs146188768 |
122 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1474358439 CA365092365 |
124 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 125 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1337437556 CA365092381 |
125 | E>V | No |
ClinGen TOPMed |
|
|
CA365092402 rs1291607857 |
127 | V>I | No |
ClinGen TOPMed |
|
|
CA365092420 rs1315350158 |
128 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA365092488 rs1322661209 |
132 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs780655887 CA3930227 |
133 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1400537767 CA365092491 |
133 | E>K | No |
ClinGen gnomAD |
|
|
CA365092506 rs1361434452 |
134 | S>G | No |
ClinGen gnomAD |
|
|
CA365092505 rs1361434452 |
134 | S>R | No |
ClinGen gnomAD |
|
|
rs28372909 CA3930228 VAR_034037 |
137 | V>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3930229 rs576567834 |
138 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA143896564 rs976325264 |
139 | I>V | No |
ClinGen gnomAD |
|
|
CA3930232 rs771349140 |
143 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs749743876 CA3930231 |
143 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365092611 rs749743876 |
143 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930233 rs779229392 |
145 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs139586367 CA3930236 |
146 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1184580961 CA365092671 |
147 | D>V | No |
ClinGen gnomAD |
|
|
CA365092682 rs1157193269 |
149 | P>S | No |
ClinGen gnomAD |
|
|
CA365092705 rs1582436987 |
151 | N>D | No |
ClinGen Ensembl |
|
|
rs760826756 CA3930238 |
151 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1435866560 CA365092735 |
152 | F>L | No |
ClinGen gnomAD |
|
|
CA365092740 rs1312873468 |
153 | L>V | No |
ClinGen gnomAD |
|
|
rs989878279 CA143896597 |
154 | T>I | No |
ClinGen Ensembl |
|
|
rs768608472 CA3930239 |
155 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA365093108 rs1229644512 |
156 | A>E | No |
ClinGen gnomAD |
|
|
CA3930259 rs566188481 |
159 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776548779 CA3930260 |
160 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs149739092 CA3930261 |
160 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3930262 rs147125574 |
162 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3930263 rs774358913 |
163 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 163 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758359688 CA3930264 |
165 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs767201800 CA3930265 |
165 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365093218 rs767201800 |
165 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 167 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA143898470 rs534592395 |
168 | H>Y | No |
ClinGen Ensembl |
|
|
CA3930266 rs775278032 |
169 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365093284 rs1451903486 |
169 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 170 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 171 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164620991 CA365093372 |
174 | R>G | No |
ClinGen gnomAD |
|
|
CA143898482 rs145039986 |
175 | G>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3930269 rs778067168 |
175 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778067168 CA3930270 |
175 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365093390 rs145039986 |
175 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1006772143 CA143898535 |
179 | T>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 183 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3930275 rs548428928 |
183 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs568421091 CA143898548 |
185 | R>* | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1275209674 CA365093608 |
185 | R>Q | No |
ClinGen gnomAD |
|
|
CA143898565 rs903683987 |
186 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs999800678 CA143898573 |
188 | A>S | No |
ClinGen Ensembl |
|
|
CA365093666 rs1213403690 |
188 | A>V | No |
ClinGen gnomAD |
|
|
CA3930276 rs755175157 |
189 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA365093671 rs1487075982 |
189 | R>H | No |
ClinGen gnomAD |
|
|
rs781520117 CA3930277 |
190 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930280 rs147577102 |
191 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs919674636 CA143898639 COSM1082700 |
191 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA143898671 rs931181744 |
196 | A>G | No |
ClinGen TOPMed |
|
|
CA365093813 rs1229408433 |
196 | A>T | No |
ClinGen gnomAD |
|
|
rs956134431 CA143898683 |
197 | I>V | No |
ClinGen gnomAD |
|
|
rs142135610 CA3930285 |
199 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760480347 CA3930284 |
199 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 200 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3930309 rs779949109 |
201 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3930310 rs371476396 |
201 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371476396 CA143902790 |
201 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA143902801 rs953611284 |
202 | A>P | No |
ClinGen TOPMed |
|
|
CA3930311 rs769345506 |
203 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs868187356 CA143902826 |
208 | S>* | No |
ClinGen Ensembl |
|
|
rs752042338 CA143902833 |
210 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761415838 CA3930315 |
210 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA365094885 rs1480767424 |
210 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759874673 CA3930317 |
211 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1455472609 CA365094944 |
213 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA365094947 rs1455472609 |
213 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1310553287 CA365094972 |
214 | E>D | No |
ClinGen TOPMed |
|
|
CA365096168 rs1169937908 |
220 | V>M | No |
ClinGen gnomAD |
|
|
rs1327022270 CA365096224 |
222 | E>G | No |
ClinGen gnomAD |
|
|
CA3930336 rs768041209 |
222 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1370784652 CA365096256 |
224 | L>F | No |
ClinGen gnomAD |
|
|
CA143904457 rs556424755 |
224 | L>P | No |
ClinGen Ensembl |
|
|
CA365096286 rs1276486320 |
225 | V>D | No |
ClinGen TOPMed |
|
|
CA3930338 rs761055791 |
226 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365096324 rs1362022312 |
227 | S>N | No |
ClinGen gnomAD |
|
|
CA143904469 rs183052013 |
228 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs1292914633 CA365096339 |
228 | G>V | No |
ClinGen gnomAD |
|
|
rs764426064 CA3930339 |
229 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365096350 rs1214033426 |
229 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA365096372 COSM1082701 rs1421340267 |
231 | R>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA3930342 rs757348368 |
231 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1217848659 CA365096469 |
236 | G>D | No |
ClinGen gnomAD |
|
|
rs963747467 CA143904494 |
237 | G>E | No |
ClinGen Ensembl |
|
|
rs1186039592 CA365096499 |
238 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3930343 rs765332796 |
239 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3930345 rs754933462 |
239 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3930344 rs751505163 |
239 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365096519 rs760861177 |
240 | D>H | No |
ClinGen TOPMed |
|
|
CA143904516 rs760861177 |
240 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA143904518 rs979336432 |
241 | K>E | No |
ClinGen TOPMed |
|
|
rs760093290 CA3930346 |
241 | K>S* | No |
ClinGen ExAC gnomAD |
|
|
CA3930349 rs753647681 |
242 | A>* | No |
ClinGen ExAC gnomAD |
|
|
rs1244577344 CA365096577 |
242 | A>G | No |
ClinGen gnomAD |
|
|
CA3930348 rs781069921 |
242 | A>S | No |
ClinGen ExAC |
|
|
rs781069921 CA365096569 |
242 | A>T | No |
ClinGen ExAC |
|
|
rs1170330289 CA365096579 |
243 | V>M | No |
ClinGen Ensembl |
|
|
rs777344686 CA3930353 |
245 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365096645 rs1487553184 |
247 | D>H | No |
ClinGen TOPMed |
|
|
CA365096656 rs1241734231 |
247 | D>V | No |
ClinGen TOPMed |
|
|
CA365096667 rs1356862076 |
248 | I>T | No |
ClinGen gnomAD |
|
|
CA3930354 rs151296506 |
249 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1313959375 CA365096695 |
251 | R>G | No |
ClinGen TOPMed |
|
|
rs1292361039 CA365096737 |
253 | Q>R | No |
ClinGen gnomAD |
|
|
CA365096776 rs1332339375 |
255 | T>A | No |
ClinGen gnomAD |
|
|
rs770388535 CA3930355 |
256 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284819577 CA365096823 |
257 | V>L | No |
ClinGen gnomAD |
|
|
CA3930356 rs773887720 |
258 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA365096854 rs1213616779 |
259 | S>C | No |
ClinGen gnomAD |
|
|
rs1188904037 CA365096923 |
264 | N>K | No |
ClinGen gnomAD |
|
|
rs1322703484 CA365096929 |
265 | G>C | No |
ClinGen TOPMed |
|
|
CA143904600 rs888210605 |
265 | G>D | No |
ClinGen TOPMed |
|
|
CA365096943 rs1181127527 |
266 | Y>C | No |
ClinGen Ensembl |
|
|
rs550391378 CA3930357 |
267 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1471974674 CA365096959 |
268 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3930375 rs778387672 |
269 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930374 rs778387672 |
269 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930376 rs771697703 |
270 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA3930377 rs199627983 |
270 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA143905474 rs946598287 |
271 | A>T | No |
ClinGen TOPMed |
|
|
rs1562253703 CA365097104 |
272 | L>F | No |
ClinGen Ensembl |
|
|
rs1358968436 CA365097115 |
274 | R>G | No |
ClinGen TOPMed |
|
|
rs747488679 CA3930378 |
274 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768954009 CA3930379 |
275 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762046616 CA3930381 |
279 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1277637959 CA365097189 |
280 | A>D | No |
ClinGen TOPMed |
|
|
rs770062385 CA3930382 |
281 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3930383 rs773362594 |
282 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373840862 CA3930385 |
283 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365097230 rs1343006142 |
283 | Y>H | No |
ClinGen gnomAD |
|
|
CA3930384 rs373840862 |
283 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3930386 rs752670435 |
284 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA568617141 rs1458059462 |
287 | R>* | No |
ClinGen gnomAD |
|
|
CA3930388 rs55792562 |
288 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753696140 CA3930389 |
289 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 290 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329501532 CA568617142 |
290 | T>RLSA* | No |
ClinGen gnomAD |
|
|
rs756945889 CA3930390 |
291 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA365097382 rs1405172730 |
292 | Q>K | No |
ClinGen TOPMed |
|
|
CA365097401 rs1562253742 |
293 | L>F | No |
ClinGen Ensembl |
|
|
rs1168075463 CA365097435 |
295 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 296 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365097462 rs1463829488 |
296 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1562253758 CA365097498 |
298 | A>G | No |
ClinGen Ensembl |
|
|
rs1197674108 CA365097493 |
298 | A>S | No |
ClinGen TOPMed |
|
|
rs758022255 CA3930393 |
303 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365097597 rs1440036579 |
305 | L>P | No |
ClinGen gnomAD |
|
|
rs746472880 CA3930395 |
306 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1229717271 CA365097626 |
307 | D>E | No |
ClinGen gnomAD |
|
|
CA3930396 rs769239464 |
307 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA365097649 rs1270953980 |
309 | V>L | No |
ClinGen gnomAD |
|
|
rs192562878 CA3930400 |
314 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3930399 rs367975525 |
314 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367975525 CA3930398 |
314 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365097777 rs1429705269 |
319 | S>C | No |
ClinGen gnomAD |
|
|
CA143905599 rs912578995 |
319 | S>P | No |
ClinGen gnomAD |
|
|
rs759492311 CA3930404 |
320 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs764096248 CA3930405 |
321 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA3930406 rs753707192 |
322 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA365097798 rs1562253798 |
322 | W>R | No |
ClinGen Ensembl |
|
|
CA365097824 rs1166691932 |
323 | V>I | No |
ClinGen gnomAD |
|
|
rs150475810 CA3930408 |
324 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750150211 CA365097855 |
325 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750150211 CA3930409 |
325 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365097846 rs1460743664 |
325 | I>V | No |
ClinGen gnomAD |
|
|
CA365097952 rs1352714712 |
327 | P>R | No |
ClinGen TOPMed |
|
|
rs1227537844 CA365097965 |
328 | L>V | No |
ClinGen TOPMed |
|
|
rs746019221 CA3930422 |
329 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453042792 CA365097977 |
330 | P>A | No |
ClinGen gnomAD |
|
|
CA3930424 rs1051277856 |
331 | T>I | No |
ClinGen TOPMed |
|
|
CA3930425 rs1051277856 |
331 | T>N | No |
ClinGen TOPMed |
|
|
CA3930427 rs577459059 |
332 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1359965985 CA365098015 |
333 | L>V | No |
ClinGen gnomAD |
|
|
rs891321929 CA143906362 |
335 | V>I | No |
ClinGen TOPMed |
|
|
rs778907687 CA3930429 |
336 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930430 rs765221000 |
340 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930431 rs773176717 |
341 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1431938440 CA365098238 |
344 | Q>* | No |
ClinGen TOPMed |
|
|
CA365098280 rs1582441649 |
345 | V>G | No |
ClinGen Ensembl |
|
|
CA365098296 rs1471297387 |
346 | M>I | No |
ClinGen gnomAD |
|
|
CA365098292 rs1582441654 |
346 | M>T | No |
ClinGen Ensembl |
|
|
CA3930432 rs762774333 |
346 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 347 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755838865 CA143906409 |
348 | A>V | No |
ClinGen gnomAD |
|
|
CA143906426 rs996937572 |
353 | A>D | No |
ClinGen Ensembl |
|
|
COSM269441 rs1482713916 CA365098522 |
356 | V>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA365098511 rs1242954236 |
356 | V>L | No |
ClinGen TOPMed |
|
|
CA365098605 rs754578655 |
358 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252401268 CA365098611 |
359 | S>G | No |
ClinGen gnomAD |
|
|
CA3930438 rs200865243 |
360 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3930439 rs138484512 |
360 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370044346 CA143906441 |
361 | T>N | No |
ClinGen ESP |
|
|
CA365098699 rs1417894870 |
362 | V>A | No |
ClinGen gnomAD |
|
|
CA3930444 rs573133060 |
365 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM330721 CA3930445 rs542033060 |
366 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA365098856 rs1407332542 |
367 | K>N | No |
ClinGen gnomAD |
|
|
COSM1211994 CA3930447 rs141150488 |
368 | F>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs141150488 CA3930446 |
368 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3930448 rs530913668 |
369 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1375362973 CA365098919 |
369 | I>M | No |
ClinGen gnomAD |
|
|
rs201111302 CA365098968 |
372 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930449 rs773229942 |
372 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365098981 rs1207573079 |
372 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA3930450 rs201111302 |
372 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA143906622 rs894906144 |
375 | L>R | No |
ClinGen TOPMed |
|
|
CA3930452 rs766268632 |
376 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408028153 CA365099092 |
376 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1562254166 CA365099095 |
376 | F>Y | No |
ClinGen Ensembl |
|
|
rs759086750 CA3930454 |
377 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA3930455 rs767145924 |
377 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs757217801 | 377 | R>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1021230256 CA143906686 |
379 | L>Q | No |
ClinGen TOPMed |
|
|
rs1188517416 CA365099208 |
380 | M>L | No |
ClinGen TOPMed |
|
|
rs1236237061 CA365099381 |
383 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3930456 rs752178674 |
384 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA365099471 rs1425949026 |
386 | K>E | No |
ClinGen gnomAD |
|
|
rs758075719 CA3930480 |
391 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA143907988 rs967222007 |
392 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA365100755 rs1463845778 |
392 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs977627660 CA143907995 |
393 | V>A | No |
ClinGen Ensembl |
|
|
CA365100780 rs1251893238 |
394 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA365100813 rs1365616270 |
395 | L>S | No |
ClinGen TOPMed |
|
|
CA365100868 rs1275969920 |
397 | T>A | No |
ClinGen gnomAD |
|
|
rs1291661979 CA365100929 |
399 | E>G | No |
ClinGen TOPMed |
|
|
rs1389336916 CA365101013 |
402 | K>* | No |
ClinGen TOPMed |
|
|
CA365101045 rs1161096462 |
403 | Q>R | No |
ClinGen TOPMed |
|
|
rs765736203 CA3930482 |
404 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA3930484 rs758735177 |
404 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930483 rs765736203 |
404 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA365101091 rs1410694377 |
406 | T>P | No |
ClinGen TOPMed |
|
|
CA3930485 rs780202237 |
407 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365101151 rs118021320 |
410 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3930487 rs118021320 |
410 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3930486 rs118021320 |
410 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781395139 CA3930488 |
411 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs138835062 CA143908062 |
412 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA365101186 rs1193145740 |
413 | S>N | No |
ClinGen gnomAD |
|
|
rs546978372 CA365101206 |
415 | K>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs546978372 CA3930489 |
415 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1562254566 CA365101215 |
416 | D>N | No |
ClinGen Ensembl |
|
|
rs770801808 CA143908068 |
418 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376991750 CA143908086 |
420 | E>K | No |
ClinGen ESP |
|
|
COSM461726 rs778841910 CA3930491 |
421 | R>* | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3930493 rs745663445 |
421 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930492 rs745663445 |
421 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1006638335 CA143909617 |
428 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3930509 rs778773767 |
431 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3930510 rs745813152 |
432 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930511 rs758177833 |
433 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350230729 CA365101595 |
434 | G>A | No |
ClinGen gnomAD |
|
|
rs779846922 CA3930512 |
436 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA365101630 rs1440980741 |
437 | G>E | No |
ClinGen gnomAD |
|
|
CA365101717 rs1332057421 |
442 | E>A | No |
ClinGen gnomAD |
|
|
rs768304138 CA3930514 |
443 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 444 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365101797 rs1342077531 |
445 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA365101793 rs1199785855 |
445 | I>T | No |
ClinGen TOPMed |
|
|
CA3930515 rs142021059 |
446 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142021059 CA365101801 |
446 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 447 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 448 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177393390 CA365101861 |
450 | K>M | No |
ClinGen gnomAD |
|
|
CA3930516 rs747672258 |
452 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 453 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365101931 rs1316842815 |
454 | K>N | No |
ClinGen TOPMed |
|
|
rs1171565314 CA365101951 |
455 | D>G | No |
ClinGen gnomAD |
|
|
rs769347640 CA3930517 |
455 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1171565314 CA365101950 |
455 | D>V | No |
ClinGen gnomAD |
|
|
rs1399653107 CA365101970 |
456 | D>V | No |
ClinGen gnomAD |
|
|
rs763490485 CA3930519 |
458 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs969792177 CA143909664 COSM1547221 |
459 | D>H | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA365102031 rs969792177 |
459 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs774885866 CA3930521 |
459 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767865199 CA3930523 |
461 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs752952871 CA3930524 |
462 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3930525 rs756214508 |
463 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA365102146 rs1230154141 |
464 | S>P | No |
ClinGen gnomAD |
|
|
CA3930528 rs758393625 |
465 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3930530 rs746823283 |
467 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA365102256 rs1451639994 |
468 | G>* | No |
ClinGen gnomAD |
|
|
CA365103356 rs1161451391 |
471 | K>N | No |
ClinGen gnomAD |
|
|
CA365103345 rs1457343286 |
471 | K>Q | No |
ClinGen gnomAD |
|
|
CA143913404 rs934488431 |
472 | P>L | No |
ClinGen Ensembl |
|
|
CA143913411 rs1057367750 |
474 | I>F | No |
ClinGen TOPMed |
|
|
CA3930550 rs766363749 |
475 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365103420 rs1421597516 |
476 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA365103435 rs1340152651 |
477 | M>K | No |
ClinGen gnomAD |
|
|
rs751496282 CA3930551 |
478 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs754811782 CA3930552 |
479 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388068115 CA365103500 |
481 | E>G | No |
ClinGen TOPMed |
|
|
rs1032011024 CA143913459 |
482 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3930554 rs752381197 |
484 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1170696233 CA365103541 |
484 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA365103555 rs1355137684 |
485 | F>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 486 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 486 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1284804464 CA365103614 |
489 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 489 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3930555 rs755818576 |
489 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs777221633 CA365103627 CA3930556 |
490 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1426934094 CA365103630 |
490 | I>T | No |
ClinGen TOPMed |
|
|
rs777221633 CA365103624 |
490 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs748842228 CA3930557 |
491 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1256581241 CA365103648 |
491 | Q>L | No |
ClinGen gnomAD |
|
|
CA365103675 rs770549387 |
493 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA365103670 rs1465574232 |
493 | A>T | No |
ClinGen gnomAD |
|
|
CA3930558 rs770549387 |
493 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3930559 rs779628366 |
494 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930560 rs746345985 |
496 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs761017967 CA3930561 |
497 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3430963 RCV000885158 rs142752446 CA3930562 |
499 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1266947768 CA365103773 |
500 | E>D | No |
ClinGen TOPMed |
|
|
rs1418091313 CA365103759 |
500 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA365103761 rs1418091313 |
500 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs768938945 CA3930564 |
501 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930566 rs761951466 |
502 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs181362854 CA143913579 |
507 | K>R | No |
ClinGen 1000Genomes |
|
|
rs929275138 CA143914336 |
508 | P>R | No |
ClinGen gnomAD |
|
|
rs1402956861 CA365104344 |
508 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 511 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331277331 CA365104474 |
513 | Y>F | No |
ClinGen gnomAD |
|
|
CA143914343 rs370996099 |
514 | L>F | No |
ClinGen Ensembl |
|
|
rs1311233105 CA365104528 |
515 | E>A | No |
ClinGen gnomAD |
|
|
rs1230662371 CA365104534 |
515 | E>D | No |
ClinGen gnomAD |
|
|
CA3930585 rs769958694 |
515 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1259750367 CA365104567 |
516 | V>A | No |
ClinGen gnomAD |
|
|
CA365104538 rs1463201992 |
516 | V>M | No |
ClinGen TOPMed |
|
|
rs890669295 CA143914351 |
517 | V>A | No |
ClinGen gnomAD |
|
|
CA365104619 rs1197867229 |
517 | V>L | No |
ClinGen gnomAD |
|
|
rs767501387 CA3930588 |
518 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767501387 CA365104646 |
518 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141265788 CA3930589 |
518 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365104749 rs1426020095 |
520 | V>I | No |
ClinGen gnomAD |
|
|
rs760582888 CA3930590 |
521 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs560665290 CA3930591 |
522 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756992388 CA3930593 |
524 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3930594 rs150787694 |
526 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3930595 rs749968157 |
527 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs993880658 CA143914381 |
528 | A>D | No |
ClinGen TOPMed |
|
|
CA365105127 rs1361428506 |
531 | T>A | No |
ClinGen TOPMed |
|
|
CA3930597 rs780680640 COSM1082707 |
531 | T>M | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3930599 rs145323234 |
532 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3930600 COSM123920 rs368218959 |
533 | R>G | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 533 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 533 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770003683 CA3930602 |
534 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA143914407 COSM171793 rs1053254356 |
535 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs532074525 CA3930603 |
535 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM451948 CA3930604 rs749425862 |
537 | I>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1197457320 CA365105328 |
540 | L>* | No |
ClinGen gnomAD |
|
|
rs775535777 CA3930606 |
540 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA143914441 rs1014295975 |
541 | Q>E | No |
ClinGen TOPMed |
|
|
rs760506200 CA3930608 |
542 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA143914460 rs745700946 CA365105406 |
543 | E>D | No |
ClinGen TOPMed |
|
|
rs780672000 CA143914454 |
543 | E>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 546 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1582446400 CA365105493 |
548 | Y>N | No |
ClinGen Ensembl |
|
| TCGA novel | 549 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776572374 CA3930610 |
549 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365105572 rs1299604453 |
551 | I>T | No |
ClinGen gnomAD |
|
|
rs1001491230 CA143914497 |
551 | I>V | No |
ClinGen gnomAD |
|
|
CA365105590 rs750098759 |
552 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1276033397 CA365105650 |
555 | E>V | No |
ClinGen gnomAD |
|
|
CA3930614 rs374625625 |
557 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA143914516 rs530990018 |
557 | G>V | No |
ClinGen Ensembl |
|
|
rs1483612588 CA365105693 |
558 | M>V | No |
ClinGen TOPMed |
|
|
CA143914522 rs1016757067 |
559 | K>T | No |
ClinGen Ensembl |
|
|
rs1226548949 CA365105733 |
560 | F>I | No |
ClinGen TOPMed |
|
|
CA3930615 rs765787678 |
560 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1289068030 CA365105758 |
561 | F>V | No |
ClinGen gnomAD |
|
|
rs149687069 CA3930616 |
562 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1384698115 CA365105852 |
563 | D>G | No |
ClinGen gnomAD |
|
|
rs1220380585 CA365105790 |
563 | D>Y | No |
ClinGen gnomAD |
|
|
CA365105880 rs1311556411 |
564 | D>G | No |
ClinGen gnomAD |
|
|
rs774316370 CA3930626 |
565 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs745921424 CA3930627 |
565 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3930628 rs768491916 |
566 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365105969 rs1211287293 |
569 | L>F | No |
ClinGen gnomAD |
|
|
rs776698396 CA3930629 |
569 | L>H | No |
ClinGen ExAC gnomAD |
|
|
COSM138581 rs761765154 CA365105999 |
570 | T>I | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs761765154 CA365105995 |
570 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761765154 CA3930630 |
570 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930631 rs769678560 |
571 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1234635667 CA365106018 |
571 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3930632 rs773045801 |
572 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365106064 rs1438554354 |
574 | L>V | No |
ClinGen gnomAD |
|
|
rs762531315 CA3930633 |
576 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs192322616 CA3930634 |
577 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768073480 CA3930637 |
581 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562257039 CA365106158 |
581 | I>V | No |
ClinGen Ensembl |
|
|
CA3930638 rs753199983 |
582 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA143914724 rs753199983 |
582 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs377171212 CA3930639 |
584 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778090533 CA3930643 |
587 | N>I | No |
ClinGen ExAC TOPMed |
|
|
rs778090533 CA3930645 |
587 | N>S | No |
ClinGen ExAC TOPMed |
|
|
rs778090533 CA3930644 |
587 | N>T | No |
ClinGen ExAC TOPMed |
|
|
CA143914761 rs943606526 |
588 | F>L | No |
ClinGen Ensembl |
|
|
CA365106432 rs1238457872 |
589 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1082708 CA143914767 rs749306296 |
591 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA365106515 rs1391730742 |
592 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA365106531 rs1220071229 |
593 | L>V | No |
ClinGen gnomAD |
|
|
CA365106550 rs1164750520 |
594 | M>L | No |
ClinGen TOPMed |
|
|
rs1278357058 CA365106571 |
595 | M>L | No |
ClinGen gnomAD |
|
|
rs377133853 CA365106589 |
595 | M>R | No |
ClinGen Ensembl |
|
|
CA143914802 rs377133853 |
595 | M>T | No |
ClinGen Ensembl |
|
|
CA3930648 rs779138931 |
599 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1239322456 CA365106694 |
600 | P>L | No |
ClinGen gnomAD |
|
|
CA365106710 rs745992154 |
601 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA3930649 rs745992154 |
601 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA365106734 rs772186153 |
603 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA3930650 rs772186153 |
603 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs781317366 CA3930651 |
604 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781317366 CA365106765 |
604 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930652 rs748073523 |
605 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1180068015 CA365106782 |
606 | E>K | No |
ClinGen TOPMed |
|
|
CA3930675 rs539397107 |
607 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 611 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868731782 CA143915860 |
614 | K>E | No |
ClinGen Ensembl |
|
|
rs771665684 CA3930677 |
614 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326271621 CA365107406 |
614 | K>R | No |
ClinGen gnomAD |
|
|
rs775013309 CA3930678 |
616 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3930679 rs760111997 |
622 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3930681 rs777190246 |
624 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA365107570 rs777190246 |
624 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA365107571 rs777190246 |
624 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA365107582 rs1192251916 |
625 | K>E | No |
ClinGen TOPMed |
|
|
CA3930682 rs201827809 |
627 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365107619 rs1262185703 |
627 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs758722585 CA3930685 |
629 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930683 rs765611371 |
629 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930684 rs765611371 |
629 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751698533 CA3930687 |
631 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 632 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 633 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755151382 CA3930706 |
634 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1452527126 CA365107948 |
635 | I>L | No |
ClinGen gnomAD |
|
|
rs1582447477 CA365107965 |
635 | I>M | No |
ClinGen Ensembl |
|
|
CA3930708 rs148972525 |
636 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA143916129 rs188643097 |
638 | F>L | No |
ClinGen 1000Genomes |
|
|
rs1305787751 CA365108135 |
641 | C>G | No |
ClinGen gnomAD |
|
|
rs745677131 CA143916133 |
641 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs530680287 CA3930712 |
645 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1214257889 CA365108308 |
646 | A>V | No |
ClinGen TOPMed |
|
|
CA365108357 rs1469609104 |
647 | E>G | No |
ClinGen TOPMed |
|
|
rs779720329 CA3930713 |
648 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930715 rs768142514 |
649 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1242911237 CA365108468 |
650 | D>G | No |
ClinGen gnomAD |
|
|
rs1220599226 CA365108461 |
650 | D>N | No |
ClinGen TOPMed |
|
|
CA365108489 rs1459110741 |
651 | I>T | No |
ClinGen gnomAD |
|
|
CA3930717 rs760454466 |
651 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1267412880 CA365108546 |
653 | V>M | No |
ClinGen gnomAD |
|
|
rs1177832471 CA365108621 |
654 | K>R | No |
ClinGen gnomAD |
|
|
COSM3745412 rs1204447911 CA365108642 |
655 | R>K | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs747541596 CA3930718 |
656 | G>E | No |
ClinGen ExAC |
|
|
rs1178575765 CA365108668 |
656 | G>R | No |
ClinGen gnomAD |
|
|
CA3930720 rs550508541 CA365108721 |
657 | D>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs770344185 CA365108703 |
657 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs770344185 CA3930719 |
657 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3930722 rs773837661 |
658 | K>N | No |
ClinGen ExAC gnomAD |
|
| rs750472217 | 660 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 661 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340955413 CA365080514 |
662 | R>S | No |
ClinGen gnomAD |
|
|
CA143864029 rs866921391 |
663 | Q>K | No |
ClinGen gnomAD |
|
|
CA3930752 rs775562629 |
664 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs920957583 CA143864031 |
664 | I>V | No |
ClinGen TOPMed |
|
|
CA3930754 rs764058483 |
665 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs146620085 RCV000885253 CA3930753 |
665 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA365080538 rs1292655956 |
667 | Q>* | No |
ClinGen gnomAD |
|
|
CA365080545 rs1490238751 |
667 | Q>H | No |
ClinGen gnomAD |
|
|
rs141416978 CA3930755 |
669 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145179346 CA3930756 |
669 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA143864038 rs1050883873 |
672 | L>V | No |
ClinGen TOPMed |
|
|
rs1418022621 CA365080662 |
681 | D>N | No |
ClinGen gnomAD |
|
|
rs1426129418 CA365080684 |
682 | P>L | No |
ClinGen gnomAD |
|
|
rs1285357664 CA365080681 |
682 | P>S | No |
ClinGen TOPMed |
|
|
rs751367115 CA365080689 |
683 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930758 rs751367115 |
683 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754712156 CA3930759 |
683 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3930760 rs767264258 |
684 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3930761 rs780203502 |
687 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA365080776 rs1345494153 |
688 | L>P | No |
ClinGen gnomAD |
|
|
CA3930764 rs748770345 |
690 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3930765 rs757844422 |
692 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3930767 rs746301858 |
696 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930769 rs775829840 |
698 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365081007 rs1360508217 |
698 | T>I | No |
ClinGen gnomAD |
|
|
rs373468900 CA143864057 |
700 | S>G | No |
ClinGen ESP |
|
|
rs1447894891 CA365081107 |
702 | L>P | No |
ClinGen gnomAD |
|
|
rs1240764169 CA365081130 |
703 | H>R | No |
ClinGen gnomAD |
|
|
rs559438960 CA3930771 |
704 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3930773 rs199880163 |
705 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 706 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562258040 CA365081233 |
709 | V>A | No |
ClinGen Ensembl |
|
|
CA365081211 rs1318514487 |
709 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 710 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365081276 rs1442241967 |
711 | Q>H | No |
ClinGen gnomAD |
|
|
rs150419553 CA365081295 |
712 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs528455891 CA3930775 |
713 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759419965 CA3930776 |
716 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3930777 rs371436576 |
717 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1360750061 CA365081408 |
718 | S>I | No |
ClinGen gnomAD |
|
|
CA3930778 rs201771151 |
719 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1336008023 CA365081462 |
721 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA365081619 rs1582448132 |
723 | D>E | No |
ClinGen Ensembl |
|
|
rs141582008 CA3930795 |
724 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1201146886 CA365081632 |
725 | H>L | No |
ClinGen gnomAD |
|
|
rs368295722 CA3930796 |
725 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 726 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3930798 rs752510619 |
729 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930797 rs745346419 |
731 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1257042316 CA365081672 |
731 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3930800 rs753536992 |
733 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs763900361 CA3930799 |
733 | G>S | No |
ClinGen ExAC |
|
|
CA3930801 rs375662582 |
738 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA143864174 rs375662582 |
738 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 740 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758304681 CA143864175 |
743 | S>G | No |
ClinGen Ensembl |
|
|
rs1236099727 CA365081793 |
744 | K>E | No |
ClinGen TOPMed |
|
|
CA143864176 COSM451950 rs763977120 |
744 | K>N | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs764675565 CA3930802 |
744 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs546006650 CA3930805 |
749 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749909277 CA3930804 |
749 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1342604113 CA365081876 |
750 | D>V | No |
ClinGen TOPMed |
|
|
rs780551818 COSM398622 CA3930806 |
750 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA365081903 rs1283038853 |
752 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3930807 rs138225352 |
752 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3930808 rs755329895 |
754 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930809 rs781429009 |
754 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA3930810 rs748350583 |
755 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA365081972 rs1193546890 |
757 | L>S | No |
ClinGen gnomAD |
|
|
rs1451487014 CA365082029 |
759 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 760 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291450220 CA365082046 |
760 | E>G | No |
ClinGen gnomAD |
|
|
rs1490409439 CA365082063 |
761 | Q>R | No |
ClinGen gnomAD |
|
|
CA365082101 rs1562258248 |
762 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA143864184 rs545744500 |
763 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs545744500 CA143864185 |
763 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3930812 rs199648388 |
764 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365082181 rs1478064421 |
767 | T>I | No |
ClinGen TOPMed |
|
|
CA3930814 rs771917796 |
768 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3930815 rs775486484 |
768 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA365082201 rs760613866 |
769 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA3930816 rs760613866 |
769 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1082712 rs768541388 CA3930817 |
769 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA365082206 rs768541388 |
769 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776517273 CA3930818 |
771 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3930819 rs761589241 |
773 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA143864198 rs1049891030 |
773 | Q>P | No |
ClinGen gnomAD |
|
|
rs1049891030 CA365082279 |
773 | Q>R | No |
ClinGen gnomAD |
|
|
rs749914308 CA3930821 |
774 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA365082362 rs1319448894 |
776 | S>Y | No |
ClinGen gnomAD |
|
|
CA3930824 rs752026428 |
779 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA3930825 rs755381213 |
779 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA365082418 rs752026428 |
779 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA365082500 rs1289190285 |
781 | D>E | No |
ClinGen gnomAD |
|
|
rs1244696275 CA365082481 |
781 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1486698255 CA365082507 |
782 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3930826 rs149285911 |
784 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3930828 rs756335886 |
786 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA365082660 rs1189611133 |
787 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA365082692 rs1244983460 |
788 | K>E | No |
ClinGen gnomAD |
|
|
CA365082710 rs1218281650 |
789 | S>P | No |
ClinGen TOPMed |
|
|
COSM1488003 rs777997396 CA3930829 |
792 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs771041182 CA3930831 |
794 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365082866 rs1384768336 |
795 | E>Y | No |
ClinGen gnomAD |
No associated diseases with O94874
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| site of double-strand break | A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| UFM1 ligase activity | Catalysis of the transfer of UFM1 to a substrate protein via the reaction X-UFM1 + S --> X + S-UFM1, where X is either an E2 or E3 enzyme, the X-UFM1 linkage is a thioester bond, and the S-UFM1 linkage is an isopeptide bond between the C-terminal amino acid of UFM1 and the epsilon-amino group of lysine residues in the substrate. |
| UFM1 transferase activity | Catalysis of the transfer of UFM1 from one protein to another via the reaction X-UFM1 + Y --> Y-UFM1 + X, where both X-UFM1 and Y-UFM1 are covalent linkages. |
23 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| erythrocyte differentiation | The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. |
| hematopoietic stem cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a hematopoietic stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. |
| histone modification | The covalent alteration of one or more amino acid residues within a histone protein. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of IRE1-mediated unfolded protein response | Any process that stops, prevents or reduces the frequency, rate or extent of the IRE1-mediated unfolded protein response. |
| negative regulation of NF-kappaB transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB. |
| negative regulation of protein ubiquitination | Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
| osteoblast differentiation | The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone. |
| positive regulation of autophagy | Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of glial cell proliferation | Any process that activates or increases the rate or extent of glial cell proliferation. |
| protein K69-linked ufmylation | A protein ufmylation process in which a polymer of the ubiquitin-like protein UFM1 is formed by linkages between lysine residues at position 69 of the UFM1 monomers, is added to a protein. |
| protein ufmylation | Covalent attachment of the ubiquitin-like protein UFM1 to another protein. |
| regulation of I-kappaB kinase/NF-kappaB signaling | Any process that modulates I-kappaB kinase/NF-kappaB signaling. |
| regulation of inflammatory response | Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. |
| regulation of intracellular estrogen receptor signaling pathway | Any process that modulates the frequency, rate or extent of the activity of an intracellular estrogen receptor signaling pathway. |
| regulation of proteasomal ubiquitin-dependent protein catabolic process | Any process that modulates the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
| regulation of protein localization | Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. |
| response to endoplasmic reticulum stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
| response to L-glutamate | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an L-glutamate stimulus. |
| reticulophagy | The selective autohagy process in which parts of the endoplasmic reticulum are loaded into autophagosomes, delivered to the vacuole, and degraded in response to changing cellular conditions. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADAWEEIRR | LAADFQRAQF | AEATQRLSER | NCIEIVNKLI | AQKQLEVVHT | LDGKEYITPA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QISKEMRDEL | HVRGGRVNIV | DLQQVINVDL | IHIENRIGDI | IKSEKHVQLV | LGQLIDENYL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DRLAEEVNDK | LQESGQVTIS | ELCKTYDLPG | NFLTQALTQR | LGRIISGHID | LDNRGVIFTE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AFVARHKARI | RGLFSAITRP | TAVNSLISKY | GFQEQLLYSV | LEELVNSGRL | RGTVVGGRQD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KAVFVPDIYS | RTQSTWVDSF | FRQNGYLEFD | ALSRLGIPDA | VSYIKKRYKT | TQLLFLKAAC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VGQGLVDQVE | ASVEEAISSG | TWVDIAPLLP | TSLSVEDAAI | LLQQVMRAFS | KQASTVVFSD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TVVVSEKFIN | DCTELFRELM | HQKAEKEMKN | NPVHLITEED | LKQISTLESV | STSKKDKKDE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RRRKATEGSG | SMRGGGGGNA | REYKIKKVKK | KGRKDDDSDD | ESQSSHTGKK | KPEISFMFQD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EIEDFLRKHI | QDAPEEFISE | LAEYLIKPLN | KTYLEVVRSV | FMSSTTSASG | TGRKRTIKDL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QEEVSNLYNN | IRLFEKGMKF | FADDTQAALT | KHLLKSVCTD | ITNLIFNFLA | SDLMMAVDDP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AAITSEIRKK | ILSKLSEETK | VALTKLHNSL | NEKSIEDFIS | CLDSAAEACD | IMVKRGDKKR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ERQILFQHRQ | ALAEQLKVTE | DPALILHLTS | VLLFQFSTHS | MLHAPGRCVP | QIIAFLNSKI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PEDQHALLVK | YQGLVVKQLV | SQSKKTGQGD | YPLNNELDKE | QEDVASTTRK | ELQELSSSIK |
| 790 | |||||
| DLVLKSRKSS | VTEE |