Q9Y6D6
Gene name |
ARFGEF1 (ARFGEP1, BIG1) |
Protein name |
Brefeldin A-inhibited guanine nucleotide-exchange protein 1 |
Names |
Brefeldin A-inhibited GEP 1, ADP-ribosylation factor guanine nucleotide-exchange factor 1, p200 ARF guanine nucleotide exchange factor, p200 ARF-GEP1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10565 |
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

4 structures for Q9Y6D6
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
3LTL | X-ray | 220 A | A/B | 691-889 | PDB |
5EE5 | X-ray | 228 A | A | 1-229 | PDB |
5J5C | X-ray | 340 A | B | 1-224 | PDB |
AF-Q9Y6D6-F1 | Predicted | AlphaFoldDB |
896 variants for Q9Y6D6
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
RCV001290727 RCV002276682 rs1805830692 |
336 | M>missing | Global developmental delay DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, AND SEIZURES [ClinVar] | Yes |
ClinVar dbSNP |
rs1804841321 RCV002276683 RCV001290728 |
648 | Q>* | Global developmental delay Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [ClinVar] | Yes |
ClinVar dbSNP |
VAR_087629 | 648 | Q>del | DEDISB; decreased protein abundance [UniProt] | Yes | UniProt |
rs1840585492 RCV001290724 |
720 | L>missing | Global developmental delay [ClinVar] | Yes |
ClinVar dbSNP |
RCV002276680 rs1840520188 VAR_087630 RCV001290721 |
798 | D>N | Global developmental delay Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures DEDISB; decreased protein abundance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
CA371214120 rs1563869264 RCV001290726 |
799 | R>* | Global developmental delay Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
RCV002276679 rs1840507738 RCV001290121 |
842 | Q>* | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, AND SEIZURES [ClinVar] | Yes |
ClinVar dbSNP |
VAR_087631 | 842 | Q>del | DEDISB [UniProt] | Yes | UniProt |
rs1839888192 RCV001290725 |
976 | C>missing | Global developmental delay [ClinVar] | Yes |
ClinVar dbSNP |
RCV001290729 CA371199990 rs1308211020 |
1233 | Q>* | Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
rs146133956 COSM1101211 CA371196313 RCV001290730 |
1345 | R>* | Global developmental delay Variant assessed as Somatic; impact. endometrium stomach [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
VAR_087632 | 1455 | C>del | DEDISB [UniProt] | Yes | UniProt |
rs1838287933 RCV002276681 RCV001780236 RCV001290722 |
1774 | R>* | Global developmental delay Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [ClinVar] | Yes |
ClinVar dbSNP |
VAR_087633 | 1774 | R>del | DEDISB [UniProt] | Yes | UniProt |
rs369779833 CA4772610 |
2 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
CA371253712 rs1326853723 |
2 | Y>D | No |
ClinGen gnomAD |
|
rs762648819 CA4772607 |
4 | G>E | No |
ClinGen ExAC gnomAD |
|
rs765893935 CA4772608 |
4 | G>R | No |
ClinGen ExAC gnomAD |
|
CA371253623 rs1472016796 |
5 | K>N | No |
ClinGen gnomAD |
|
CA4772606 rs773513092 |
5 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371253583 rs1563926936 |
8 | K>R | No |
ClinGen Ensembl |
|
CA371253503 rs1453859318 |
11 | F>L | No |
ClinGen gnomAD |
|
rs575822599 CA178327432 |
11 | F>S | No |
ClinGen Ensembl |
|
CA4772604 rs765553102 |
14 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371253452 rs1347297540 |
15 | A>G | No |
ClinGen TOPMed |
|
TCGA novel | 15 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371253449 rs1347297540 |
15 | A>V | No |
ClinGen TOPMed |
|
CA4772601 rs768754442 |
20 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA178327423 rs878891010 |
20 | L>W | No |
ClinGen Ensembl |
|
CA4772600 rs746993809 |
21 | A>D | No |
ClinGen ExAC gnomAD |
|
CA371253339 COSM3834948 rs1350102787 |
21 | A>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
TCGA novel | 22 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371253308 rs1302340992 |
23 | K>R | No |
ClinGen gnomAD |
|
TCGA novel | 24 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371253234 rs1477016231 |
28 | A>G | No |
ClinGen TOPMed gnomAD |
|
rs1477016231 CA371253233 |
28 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA4772591 rs751084276 |
31 | S>C | No |
ClinGen ExAC gnomAD |
|
rs754553351 CA4772592 |
31 | S>T | No |
ClinGen ExAC gnomAD |
|
CA371253193 rs751084276 |
31 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA178327393 rs909771404 |
35 | K>T | No |
ClinGen Ensembl |
|
CA371253128 rs1479253199 |
36 | A>V | No |
ClinGen gnomAD |
|
CA371253097 rs1378735697 |
38 | E>G | No |
ClinGen gnomAD |
|
CA178301650 rs1038077353 |
42 | E>G | No |
ClinGen TOPMed |
|
rs144563065 CA4772563 |
44 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs753201303 CA4772562 |
44 | I>T | No |
ClinGen ExAC gnomAD |
|
rs767528474 CA4772561 |
46 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774730853 CA4772559 |
47 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 49 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371259393 rs1409793632 |
50 | K>E | No |
ClinGen gnomAD |
|
CA371259387 rs1417634804 |
50 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA178300541 rs144506580 |
53 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs144506580 CA4772535 |
53 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA178300558 rs938635856 |
53 | P>S | No |
ClinGen Ensembl |
|
rs972627593 CA178300534 |
54 | P>L | No |
ClinGen TOPMed |
|
rs1214124211 CA371259352 |
54 | P>S | No |
ClinGen gnomAD |
|
CA4772533 rs760449947 |
55 | H>D | No |
ClinGen ExAC gnomAD |
|
rs745773603 CA4772529 |
60 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4772528 rs773900413 |
60 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA371259304 rs1442160635 |
62 | S>P | No |
ClinGen gnomAD |
|
rs1324212767 CA371259269 |
67 | P>Q | No |
ClinGen gnomAD |
|
rs1563901020 CA371259250 |
70 | S>A | No |
ClinGen Ensembl |
|
TCGA novel | 71 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371259237 rs1158477924 |
72 | T>A | No |
ClinGen gnomAD |
|
CA4772524 rs756451699 |
72 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4772523 rs143012582 |
76 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA371259192 rs1193998653 |
78 | D>V | No |
ClinGen gnomAD |
|
rs1453645148 CA371259166 |
81 | F>L | No |
ClinGen gnomAD |
|
rs1213060906 CA371259109 |
89 | Q>H | No |
ClinGen TOPMed gnomAD |
|
CA371259112 rs1461198864 |
89 | Q>P | No |
ClinGen gnomAD |
|
CA178300451 rs538740809 |
90 | S>Y | No |
ClinGen 1000Genomes |
|
CA178300449 rs910132709 |
91 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs766586260 CA4772518 |
92 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 92 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1327421874 CA371259080 |
94 | R>C | No |
ClinGen TOPMed |
|
COSM1101236 CA371259079 rs369515490 |
94 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
CA178300443 rs369515490 |
94 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
rs1301714952 CA371259067 |
96 | V>A | No |
ClinGen gnomAD |
|
CA4772517 rs758509264 |
96 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1437459663 CA371259060 |
97 | S>N | No |
ClinGen gnomAD |
|
CA4772494 rs753957502 |
107 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766359315 CA4772490 |
113 | T>I | No |
ClinGen ExAC gnomAD |
|
CA4772489 rs762869514 |
114 | G>D | No |
ClinGen ExAC gnomAD |
|
CA4772488 rs368559554 |
115 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1337264407 CA371258913 |
117 | P>L | No |
ClinGen gnomAD |
|
rs1376165205 CA371258916 |
117 | P>S | No |
ClinGen TOPMed |
|
rs1293933334 CA371258908 |
118 | D>G | No |
ClinGen gnomAD |
|
rs1232802022 CA371258903 |
119 | S>G | No |
ClinGen TOPMed gnomAD |
|
rs1160057263 CA371258886 |
120 | T>R | No |
ClinGen TOPMed |
|
CA371258881 rs1353450636 |
121 | T>A | No |
ClinGen gnomAD |
|
CA371258883 rs1353450636 |
121 | T>P | No |
ClinGen gnomAD |
|
CA371258857 rs769168664 |
123 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769168664 CA4772487 |
123 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371258808 rs1391745660 |
127 | I>T | No |
ClinGen gnomAD |
|
rs1395428517 CA371258797 |
128 | D>G | No |
ClinGen gnomAD |
|
rs1035393239 CA178298788 |
128 | D>Y | No |
ClinGen TOPMed |
|
rs1391308115 CA371258777 |
130 | I>L | No |
ClinGen TOPMed |
|
CA371258734 rs1386041962 |
133 | T>I | No |
ClinGen TOPMed |
|
CA4772484 rs769150403 COSM3779314 |
134 | I>M | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA4772485 rs776110527 |
134 | I>T | No |
ClinGen ExAC gnomAD |
|
rs1459081461 CA371258727 |
134 | I>V | No |
ClinGen gnomAD |
|
rs1182040428 CA371258700 |
136 | G>D | No |
ClinGen gnomAD |
|
rs1184530742 CA371258620 |
143 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA4772483 rs747321357 |
146 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1228609152 CA371258564 |
148 | Q>K | No |
ClinGen TOPMed |
|
TCGA novel | 150 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4772482 rs181099627 |
152 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 156 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs768482778 CA4772460 |
158 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1348258522 CA371258277 |
158 | A>V | No |
ClinGen gnomAD |
|
rs776037456 CA4772458 |
159 | V>A | No |
ClinGen ExAC |
|
rs760401084 CA4772459 |
159 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371258252 rs748428891 |
163 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371258246 rs1318381561 |
163 | H>Q | No |
ClinGen gnomAD |
|
rs748428891 CA4772456 |
163 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4772455 rs562671176 |
164 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4772454 rs562671176 |
164 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 169 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs749383940 CA4772453 |
170 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1157441742 CA371258198 |
171 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA4772452 rs147785456 |
173 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4772450 rs748343992 |
174 | A>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 176 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs140713901 CA178296552 |
180 | N>S | No |
ClinGen ESP TOPMed |
|
rs1446560773 CA371258102 |
185 | S>N | No |
ClinGen gnomAD |
|
rs758092043 CA4772448 |
186 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371258070 rs1047822027 |
189 | I>M | No |
ClinGen TOPMed |
|
CA371258057 rs1348542717 |
191 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA4772446 rs765029714 |
193 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1231875440 CA371258032 |
195 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA371258033 rs1231875440 |
195 | K>T | No |
ClinGen TOPMed gnomAD |
|
rs757207098 CA4772445 |
197 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1270478481 CA371258016 |
198 | L>V | No |
ClinGen gnomAD |
|
CA178296527 rs375579913 |
199 | T>N | No |
ClinGen ESP |
|
TCGA novel | 203 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs371357899 CA178296510 |
205 | I>T | No |
ClinGen ESP |
|
CA4772444 rs753467284 |
205 | I>V | No |
ClinGen ExAC |
|
rs1314181915 CA371257952 |
207 | A>V | No |
ClinGen gnomAD |
|
rs763667176 CA4772443 |
208 | R>C | No |
ClinGen ExAC gnomAD |
|
rs1587249291 CA371257949 |
208 | R>H | No |
ClinGen Ensembl |
|
rs775243712 CA4772441 |
209 | M>I | No |
ClinGen ExAC gnomAD |
|
rs760454209 CA4772442 |
209 | M>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 213 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1031287802 CA178296482 |
213 | A>V | No |
ClinGen Ensembl |
|
rs745710547 CA4772428 |
215 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA371256884 rs1319679156 |
218 | K>T | No |
ClinGen TOPMed |
|
CA4772426 rs757183150 |
220 | M>V | No |
ClinGen ExAC gnomAD |
|
CA4772425 rs753804375 |
224 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1330010304 CA371256792 |
224 | R>M | No |
ClinGen gnomAD |
|
CA371256785 rs1409556340 |
224 | R>S | No |
ClinGen gnomAD |
|
rs1563894275 CA371256757 |
226 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs763728256 CA4772424 |
226 | R>W | No |
ClinGen ExAC gnomAD |
|
CA4772423 rs752409370 |
227 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA371256737 rs1475615865 |
228 | H>D | No |
ClinGen gnomAD |
|
rs200834597 CA4772421 |
228 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1179984638 CA371256714 |
229 | H>L | No |
ClinGen gnomAD |
|
rs1179984638 CA371256715 |
229 | H>R | No |
ClinGen gnomAD |
|
rs1344388478 CA371256703 |
230 | H>R | No |
ClinGen TOPMed |
|
CA4772420 rs144569761 |
230 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA371256636 rs766739388 |
235 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766739388 CA4772418 |
235 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763468863 CA4772417 |
236 | V>I | No |
ClinGen ExAC gnomAD |
|
CA178292193 rs905474246 |
237 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA4772415 rs370787018 |
238 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs776681380 CA4772413 |
240 | E>K | No |
ClinGen ExAC gnomAD |
|
rs768829279 CA4772412 |
243 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747224293 CA4772411 |
244 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1477395623 CA371256478 |
247 | R>G | No |
ClinGen TOPMed |
|
rs770710364 CA4772409 |
250 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375469959 CA4772407 |
251 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA371256393 rs1406939161 CA371256395 |
252 | Q>H | No |
ClinGen TOPMed |
|
rs756105532 CA4772406 |
253 | T>S | No |
ClinGen ExAC gnomAD |
|
CA4772405 rs370772971 |
254 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 255 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371256349 rs1292146078 |
256 | H>D | No |
ClinGen gnomAD |
|
rs780719537 CA4772404 |
256 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1587238852 CA371256335 |
257 | I>V | No |
ClinGen Ensembl |
|
rs1587238832 CA371256299 |
259 | Q>H | No |
ClinGen Ensembl |
|
CA4772401 rs766681415 |
262 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 263 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs955021939 CA178292077 |
265 | L>P | No |
ClinGen Ensembl |
|
RCV000955187 CA4772399 rs61753695 |
266 | D>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA371256188 rs1319219148 |
267 | L>R | No |
ClinGen gnomAD |
|
CA371256175 rs1285658290 |
268 | H>R | No |
ClinGen gnomAD |
|
CA371256179 rs1294209872 |
268 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA4772397 rs762305898 |
270 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1289752973 CA371256116 |
272 | V>G | No |
ClinGen TOPMed |
|
rs4321984 VAR_028749 CA178292046 |
273 | D>Y | No |
ClinGen UniProt Ensembl dbSNP |
|
CA371256061 rs1306088929 |
276 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA371256063 rs1306088929 |
276 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1370559410 CA371256005 |
280 | T>A | No |
ClinGen gnomAD |
|
CA4772395 rs768761106 |
280 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 281 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4772393 rs775713594 |
282 | P>H | No |
ClinGen ExAC gnomAD |
|
rs1364117236 CA371255920 |
286 | S>C | No |
ClinGen gnomAD |
|
CA4772390 rs527981069 |
287 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4772391 rs749151632 |
287 | D>G | No |
ClinGen ExAC gnomAD |
|
CA178292007 rs368008426 |
287 | D>H | No |
ClinGen Ensembl |
|
CA4772389 rs149899042 |
288 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA178291998 rs1002606879 |
289 | S>A | No |
ClinGen Ensembl |
|
CA371255824 rs1453404737 |
293 | N>S | No |
ClinGen gnomAD |
|
rs4641048 CA178291988 |
295 | Q>H | No |
ClinGen Ensembl |
|
CA4772386 rs61758692 |
296 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA371255786 rs1301394858 |
296 | T>S | No |
ClinGen TOPMed gnomAD |
|
rs61758692 CA4772387 |
296 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 298 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs551759273 CA4772384 |
300 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA4772383 rs531843869 |
301 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA4772382 rs750857646 |
303 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765557150 CA4772381 |
304 | A>V | No |
ClinGen ExAC gnomAD |
|
CA371255657 rs1460770955 |
306 | T>P | No |
ClinGen gnomAD |
|
rs745499442 CA4772361 |
309 | K>E | No |
ClinGen ExAC gnomAD |
|
CA371254475 rs1254640307 |
309 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA178288630 rs888218708 |
310 | N>K | No |
ClinGen TOPMed gnomAD |
|
CA371254428 rs1587228454 |
312 | V>A | No |
ClinGen Ensembl |
|
CA371254424 rs1277623235 |
313 | L>I | No |
ClinGen gnomAD |
|
CA4772358 rs76811394 COSM150498 |
314 | Y>C | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA4772359 rs76811394 |
314 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs996930481 CA178288626 |
314 | Y>H | No |
ClinGen Ensembl |
|
VAR_036155 | 316 | G>E | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
CA4772357 rs764719716 COSM1101234 |
316 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1250575552 CA371254371 |
317 | E>G | No |
ClinGen gnomAD |
|
TCGA novel | 317 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA178288590 rs756572458 |
319 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4772356 rs756572458 |
319 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4772355 rs752860157 |
321 | C>F | No |
ClinGen ExAC gnomAD |
|
CA371254331 rs1299695735 |
322 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs1309195144 CA371254304 |
326 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA371254288 rs1167874617 |
328 | I>T | No |
ClinGen gnomAD |
|
rs895868722 CA178288572 |
332 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA4772349 rs776280671 |
335 | E>K | No |
ClinGen ExAC gnomAD |
|
CA371254229 rs1563890913 |
336 | M>I | No |
ClinGen Ensembl |
|
CA4772348 rs768708118 |
336 | M>V | No |
ClinGen ExAC gnomAD |
|
CA4772347 rs746893285 |
337 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1447770575 CA371254228 |
337 | V>M | No |
ClinGen Ensembl |
|
CA4772346 rs775031644 |
338 | N>H | No |
ClinGen ExAC gnomAD |
|
rs1346287784 CA371254216 |
339 | I>L | No |
ClinGen gnomAD |
|
rs1331740711 CA371254206 |
340 | V>A | No |
ClinGen TOPMed |
|
CA371254209 rs1415717120 |
340 | V>I | No |
ClinGen TOPMed |
|
CA178281943 rs553294668 |
344 | M>T | No |
ClinGen gnomAD |
|
rs565313375 CA4772321 |
344 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371253938 rs1388396483 |
345 | G>A | No |
ClinGen TOPMed |
|
rs1371346419 CA371253930 |
346 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs770012022 CA4772319 |
347 | G>E | No |
ClinGen ExAC gnomAD |
|
CA4772320 rs778218475 |
347 | G>W | No |
ClinGen ExAC gnomAD |
|
rs748665917 CA4772318 |
348 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755532297 CA4772316 |
353 | S>N | No |
ClinGen ExAC |
|
rs781739609 CA4772317 |
353 | S>R | No |
ClinGen ExAC gnomAD |
|
CA371253818 rs1413282587 |
354 | A>T | No |
ClinGen TOPMed |
|
CA371253784 rs140569992 |
356 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs140569992 CA4772315 |
356 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1196161647 CA371253764 |
357 | N>K | No |
ClinGen gnomAD |
|
CA178281883 rs1030938397 |
357 | N>S | No |
ClinGen TOPMed |
|
rs199816572 CA4772313 |
358 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs367687566 CA4772314 |
358 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs750563533 CA4772312 |
361 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1449993806 CA371253678 |
362 | E>D | No |
ClinGen gnomAD |
|
CA371253617 rs1263959407 |
365 | S>N | No |
ClinGen gnomAD |
|
rs1487938175 CA371253565 |
367 | S>R | No |
ClinGen gnomAD |
|
rs1458972092 CA371253539 |
368 | E>K | No |
ClinGen gnomAD |
|
CA371253480 rs1283598200 |
370 | I>T | No |
ClinGen gnomAD |
|
rs113233246 CA178281860 |
371 | Q>R | No |
ClinGen Ensembl |
|
CA4772310 rs760320186 |
373 | N>S | No |
ClinGen ExAC gnomAD |
|
CA371253347 rs1273945379 |
376 | P>L | No |
ClinGen gnomAD |
|
CA178281842 rs1031013620 |
380 | I>V | No |
ClinGen gnomAD |
|
rs1318444253 CA371253281 |
381 | S>F | No |
ClinGen gnomAD |
|
CA178281841 rs749253154 |
385 | T>I | No |
ClinGen TOPMed |
|
rs1261157740 CA371253225 |
386 | P>S | No |
ClinGen gnomAD |
|
rs1563883147 CA371253182 |
389 | P>L | No |
ClinGen Ensembl |
|
TCGA novel | 391 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 392 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4772306 rs773900199 |
392 | R>S | No |
ClinGen ExAC gnomAD |
|
CA4772305 rs770296871 |
394 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs75111017 CA4772304 |
398 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA178281819 rs75111017 |
398 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA371252996 rs1587196848 |
400 | T>A | No |
ClinGen Ensembl |
|
rs1274007000 CA371219609 |
410 | S>L | No |
ClinGen TOPMed |
|
CA4772287 rs765914390 |
411 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA178239905 rs765914390 |
411 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371219606 rs1292389787 |
411 | P>S | No |
ClinGen Ensembl |
|
CA371219598 rs1439160507 |
413 | A>T | No |
ClinGen gnomAD |
|
rs1404424004 CA371219593 |
413 | A>V | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 414 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA178239902 rs1040035704 |
414 | K>N | No |
ClinGen Ensembl |
|
rs1273351016 CA371219589 |
414 | K>T | No |
ClinGen gnomAD |
|
CA178239898 rs78884955 |
415 | F>V | No |
ClinGen Ensembl |
|
rs537950704 CA4772286 |
416 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4772285 rs537950704 |
416 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs761529850 CA178239868 |
419 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371219549 rs777189480 |
420 | Q>L | No |
ClinGen ExAC gnomAD |
|
CA4772282 rs777189480 |
420 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs769097390 CA4772281 |
423 | A>D | No |
ClinGen ExAC gnomAD |
|
rs769097390 CA371219527 |
423 | A>G | No |
ClinGen ExAC gnomAD |
|
rs772208540 CA4772278 |
427 | F>V | No |
ClinGen ExAC gnomAD |
|
rs1010934782 CA178239847 |
430 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs1167222689 CA371219450 |
435 | M>T | No |
ClinGen gnomAD |
|
CA4772276 rs779019298 |
435 | M>V | Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA371219440 rs1405862929 |
436 | K>I | No |
ClinGen gnomAD |
|
CA4772275 rs757522766 |
446 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 448 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4772254 rs756313238 |
451 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371218971 rs1354802061 |
452 | S>C | No |
ClinGen TOPMed |
|
rs901104524 CA178237875 |
453 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA371218962 rs1219961611 |
454 | I>F | No |
ClinGen TOPMed gnomAD |
|
CA371218960 rs1219961611 |
454 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs779870449 CA4772252 |
456 | S>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 459 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371218879 rs1216397684 |
465 | Q>H | No |
ClinGen gnomAD |
|
CA4772250 rs750330408 |
474 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778601035 CA4772249 |
475 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1350123170 CA371218762 |
475 | E>K | No |
ClinGen gnomAD |
|
rs756761381 CA4772248 |
477 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753559272 CA371218712 |
478 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753559272 CA4772247 |
478 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4772245 rs760372196 |
481 | I>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 485 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 485 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA178237835 rs1014512662 |
498 | P>S | No |
ClinGen Ensembl |
|
TCGA novel | 502 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4772242 rs759991178 |
502 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1026472926 CA178237826 |
507 | I>T | No |
ClinGen Ensembl |
|
rs1187817028 CA371218311 |
507 | I>V | No |
ClinGen gnomAD |
|
rs771009386 CA4772240 |
509 | L>F | No |
ClinGen ExAC gnomAD |
|
CA371218240 rs1403695984 |
514 | N>D | No |
ClinGen TOPMed |
|
CA371218216 rs1211033244 |
517 | T>A | No |
ClinGen gnomAD |
|
TCGA novel | 520 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 521 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371217150 rs1423653976 |
526 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
TCGA novel | 530 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs746053755 CA371217103 |
532 | L>F | No |
ClinGen gnomAD |
|
rs373169129 CA4772211 |
533 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 536 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs778848500 CA4772210 |
538 | S>C | No |
ClinGen ExAC gnomAD |
|
CA4772209 rs369952425 |
539 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1344007085 CA371217039 |
542 | F>S | No |
ClinGen TOPMed |
|
rs1196877628 CA371217002 |
547 | M>V | No |
ClinGen gnomAD |
|
CA371216988 rs1428032536 |
548 | V>G | No |
ClinGen TOPMed |
|
rs749187709 CA4772208 |
553 | T>M | No |
ClinGen ExAC gnomAD |
|
CA371216951 rs1367795283 |
554 | R>S | No |
ClinGen TOPMed |
|
CA371216936 rs1319628995 |
556 | C>W | No |
ClinGen gnomAD |
|
rs149585401 CA4772206 |
556 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
rs1360305790 CA371216886 |
562 | V>I | No |
ClinGen gnomAD |
|
rs1360305790 CA371216884 |
562 | V>L | No |
ClinGen gnomAD |
|
rs886141882 CA178235621 |
576 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs749240943 CA4772191 |
578 | I>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 580 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 585 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs769604519 CA4772189 |
585 | D>V | No |
ClinGen ExAC gnomAD |
|
CA371216577 rs1265332006 |
594 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA4772188 rs747756594 |
594 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs138242444 CA178235598 |
596 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA371216533 rs1487805509 |
597 | E>* | No |
ClinGen gnomAD |
|
CA178235582 rs923094119 |
597 | E>A | No |
ClinGen TOPMed gnomAD |
|
CA371216530 rs923094119 |
597 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA371216497 rs1201770117 |
599 | G>V | No |
ClinGen gnomAD |
|
TCGA novel | 601 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371216438 rs1348395111 |
603 | V>I | No |
ClinGen TOPMed |
|
rs1268754282 CA371216360 |
607 | S>R | No |
ClinGen gnomAD |
|
CA4772167 rs746672155 |
608 | L>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 612 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371216317 rs1450728541 |
614 | E>Q | No |
ClinGen gnomAD |
|
CA371216313 rs1402489937 |
614 | E>V | No |
ClinGen gnomAD |
|
rs779586937 CA178235534 |
616 | L>S | No |
ClinGen Ensembl |
|
rs376779610 CA4772166 |
618 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA178235528 rs113878715 |
636 | S>P | No |
ClinGen Ensembl |
|
CA371216141 rs1472971986 |
638 | T>A | No |
ClinGen gnomAD |
|
CA4772163 rs779117076 |
639 | T>A | No |
ClinGen ExAC gnomAD |
|
CA371216136 rs779117076 |
639 | T>P | No |
ClinGen ExAC gnomAD |
|
CA4772161 rs754252311 |
640 | L>F | No |
ClinGen ExAC gnomAD |
|
CA371216050 rs1280727022 |
642 | Q>* | No |
ClinGen gnomAD |
|
TCGA novel | 642 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs771132598 CA4772139 |
644 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 646 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371215912 rs1356109154 |
650 | M>T | No |
ClinGen gnomAD |
|
CA4772138 rs749813829 |
654 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1371229274 CA371215812 |
656 | P>A | No |
ClinGen gnomAD |
|
rs537079988 CA4772136 |
658 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs781395241 CA4772134 |
659 | I>R | No |
ClinGen ExAC gnomAD |
|
rs752860752 CA4772135 |
659 | I>V | No |
ClinGen ExAC gnomAD |
|
CA4772133 rs368332929 |
661 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4772130 rs761460203 |
671 | T>A | No |
ClinGen ExAC gnomAD |
|
CA371215537 rs1436787771 |
673 | S>A | No |
ClinGen gnomAD |
|
rs1268876505 CA371215399 |
679 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1288952096 CA371215380 |
680 | S>C | No |
ClinGen TOPMed |
|
rs1197909586 CA371215377 |
680 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA178235200 rs145173986 |
682 | Q>H | No |
ClinGen ESP |
|
rs775031548 CA4772126 |
683 | M>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 685 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs771522851 CA4772125 |
690 | E>D | No |
ClinGen ExAC gnomAD |
|
CA371215090 rs1366799626 |
697 | Q>H | No |
ClinGen gnomAD |
|
rs1281236178 CA371215062 |
700 | E>D | No |
ClinGen gnomAD |
|
rs1587167428 CA371215034 |
702 | I>T | No |
ClinGen Ensembl |
|
rs1277220113 CA371214988 |
706 | I>L | No |
ClinGen TOPMed |
|
CA178235177 rs915954092 |
707 | D>H | No |
ClinGen TOPMed |
|
rs1332855060 CA371214745 |
710 | N>Y | No |
ClinGen gnomAD |
|
CA371214732 TCGA novel rs1222260912 |
711 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
CA4772106 rs773904011 |
712 | K>R | No |
ClinGen ExAC gnomAD |
|
rs765983514 CA4772105 |
714 | K>E | No |
ClinGen ExAC gnomAD |
|
CA4772104 rs762644535 |
715 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs868812236 CA178231693 |
716 | G>* | No |
ClinGen Ensembl |
|
TCGA novel | 716 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4772103 rs773733329 |
716 | G>V | No |
ClinGen ExAC gnomAD |
|
CA4772102 rs770242580 |
717 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 717 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371214701 rs770242580 |
717 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4772100 rs777222331 |
728 | T>A | No |
ClinGen ExAC gnomAD |
|
CA178231676 rs201705584 |
729 | T>A | No |
ClinGen Ensembl |
|
rs1248897282 CA371214611 |
730 | P>A | No |
ClinGen TOPMed |
|
rs769194487 CA4772099 |
730 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs898643631 CA178231653 |
733 | I>T | No |
ClinGen gnomAD |
|
CA371214582 rs1369869723 |
734 | A>D | No |
ClinGen TOPMed |
|
rs1187751821 CA371214585 |
734 | A>T | No |
ClinGen TOPMed |
|
rs1006949529 CA178231633 |
736 | F>L | No |
ClinGen TOPMed gnomAD |
|
CA178231631 rs368734230 |
738 | H>L | No |
ClinGen ESP TOPMed |
|
rs1017796535 CA178231632 |
738 | H>Y | No |
ClinGen TOPMed |
|
TCGA novel | 739 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371214547 rs1323247630 |
739 | Q>P | No |
ClinGen gnomAD |
|
rs1395794307 CA371214525 |
742 | R>K | No |
ClinGen TOPMed |
|
rs1336362179 CA371214500 |
745 | S>F | No |
ClinGen TOPMed |
|
CA371214486 rs1196793314 |
746 | T>A | No |
ClinGen TOPMed |
|
CA4772065 rs370609948 |
746 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4772064 rs370609948 |
746 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781014133 CA4772062 |
747 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs1304117949 CA371214455 |
751 | F>L | No |
ClinGen gnomAD |
|
CA4772060 rs751473980 |
756 | D>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 757 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4772059 rs779433086 |
759 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4772058 rs757921940 |
760 | K>E | No |
ClinGen ExAC gnomAD |
|
CA4772057 rs201306369 |
760 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs765051169 CA4772056 |
765 | A>T | No |
ClinGen ExAC gnomAD |
|
rs754203571 CA4772054 |
766 | Y>F | No |
ClinGen ExAC gnomAD |
|
CA371214338 rs1367498986 |
767 | V>A | No |
ClinGen TOPMed |
|
CA178230019 rs373557895 |
773 | S>A | No |
ClinGen ESP gnomAD |
|
CA178229985 rs1053795900 |
776 | D>Y | No |
ClinGen Ensembl |
|
CA4772052 rs761120816 |
780 | A>G | No |
ClinGen ExAC gnomAD |
|
rs1336520096 CA371214229 |
783 | M>T | No |
ClinGen TOPMed |
|
CA4772051 rs192394900 |
789 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1357962390 CA371214108 |
801 | M>V | No |
ClinGen TOPMed |
|
TCGA novel | 804 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs772261055 CA178229959 |
807 | R>G | No |
ClinGen Ensembl |
|
CA371214053 rs1404916182 |
808 | Y>F | No |
ClinGen gnomAD |
|
TCGA novel | 810 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA178229923 rs748544685 |
814 | G>R | No |
ClinGen Ensembl |
|
rs1336220096 CA371213952 |
815 | Q>R | No |
ClinGen gnomAD |
|
CA371213937 rs1468139759 |
816 | T>I | No |
ClinGen gnomAD |
|
CA371213932 rs1168268343 |
817 | L>F | No |
ClinGen gnomAD |
|
rs376677831 CA4772029 |
820 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs773423820 CA4772028 |
821 | A>G | No |
ClinGen ExAC |
|
rs773423820 CA178229592 |
821 | A>V | No |
ClinGen ExAC |
|
rs1241949806 CA371213558 |
831 | I>V | No |
ClinGen gnomAD |
|
CA371213545 rs1191036972 |
833 | M>L | No |
ClinGen TOPMed |
|
TCGA novel | 834 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371213325 rs1244097264 |
845 | N>S | No |
ClinGen gnomAD |
|
rs1222890188 CA371213282 |
848 | T>A | No |
ClinGen gnomAD |
|
CA178226230 rs919102903 |
849 | K>R | No |
ClinGen TOPMed |
|
rs1377303552 CA371213251 |
850 | E>G | No |
ClinGen gnomAD |
|
CA4772000 rs745807755 |
851 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1408896716 CA371213209 |
853 | I>V | No |
ClinGen TOPMed |
|
rs1357085508 CA371213144 |
857 | R>K | No |
ClinGen TOPMed |
|
TCGA novel | 858 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4771999 rs201654906 |
860 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 864 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 868 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371212983 rs1311204931 |
870 | L>I | No |
ClinGen TOPMed gnomAD |
|
CA371212953 COSM1101227 rs1176167354 |
872 | A>D | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1408047976 CA371212959 |
872 | A>S | No |
ClinGen gnomAD |
|
TCGA novel | 873 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4771995 rs755810202 |
874 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA371212800 RCV000850381 rs1490604083 |
884 | M>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA178226184 rs951483189 |
887 | T>A | No |
ClinGen gnomAD |
|
TCGA novel | 888 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4771994 rs747712444 |
890 | L>V | No |
ClinGen ExAC gnomAD |
|
CA4771993 rs781541220 |
892 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1025716820 CA178226150 |
894 | T>A | No |
ClinGen Ensembl |
|
rs1017568863 CA178226142 |
897 | S>N | No |
ClinGen TOPMed |
|
TCGA novel | 901 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1158609538 CA371211847 |
904 | E>V | No |
ClinGen gnomAD |
|
TCGA novel | 921 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA178224472 COSM1245309 rs988981305 |
921 | T>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
TCGA novel | 928 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371211646 rs1446120711 |
932 | V>F | No |
ClinGen TOPMed |
|
TCGA novel | 936 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371211542 rs1430594041 |
947 | P>S | No |
ClinGen gnomAD |
|
TCGA novel | 948 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1308583743 CA371209523 |
952 | A>S | No |
ClinGen gnomAD |
|
CA4771949 rs746403844 |
954 | T>M | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 957 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1358530735 CA371209442 |
958 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA4771947 rs757781689 |
960 | F>C | No |
ClinGen ExAC gnomAD |
|
rs1164407678 CA371209381 |
963 | G>C | No |
ClinGen TOPMed gnomAD |
|
rs1164407678 CA371209379 |
963 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA371209362 rs1587114144 |
965 | Q>K | No |
ClinGen Ensembl |
|
rs1383425247 CA371209346 COSM194709 |
966 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs756434225 CA4771944 |
967 | C>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 970 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371209273 rs1171217848 |
970 | T>I | No |
ClinGen TOPMed |
|
CA371209256 rs766205926 |
971 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750228227 CA4771940 CA4771941 |
972 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765125851 CA4771939 |
974 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765125851 CA371209224 |
974 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 975 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1398070538 CA371209156 |
980 | I>V | No |
ClinGen TOPMed |
|
rs201419316 CA4771938 |
982 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs763556817 CA4771936 |
984 | I>M | No |
ClinGen ExAC gnomAD |
|
CA4771937 rs776142271 |
984 | I>V | No |
ClinGen ExAC gnomAD |
|
CA4771934 rs142188640 |
989 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
TCGA novel | 991 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs752871160 CA178211116 |
995 | E>V | No |
ClinGen Ensembl |
|
CA178211085 rs372985099 |
1000 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
CA4771913 rs774607442 |
1014 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1587111244 CA371207722 |
1015 | I>V | No |
ClinGen Ensembl |
|
CA371207514 rs1440617892 |
1024 | D>G | No |
ClinGen TOPMed |
|
CA4771911 rs749822900 |
1030 | I>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1031 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs113798396 CA178211042 |
1032 | V>A | No |
ClinGen Ensembl |
|
rs1370452083 CA371207394 |
1034 | H>N | No |
ClinGen Ensembl |
|
rs145286962 CA371207365 |
1036 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
CA4771909 rs145286962 |
1036 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
CA4771908 rs375079762 |
1039 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
CA4771888 rs768714441 |
1057 | A>T | No |
ClinGen ExAC gnomAD |
|
CA4771886 rs780313573 |
1059 | L>F | No |
ClinGen ExAC gnomAD |
|
rs749124100 CA4771884 |
1060 | I>M | No |
ClinGen ExAC gnomAD |
|
rs1183176292 CA371206660 |
1066 | P>A | No |
ClinGen gnomAD |
|
CA371206649 rs1437573073 |
1067 | R>* | No |
ClinGen gnomAD |
|
rs1250094954 CA371206647 COSM1101219 |
1067 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA4771882 rs756032037 |
1068 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA371206588 rs752610322 |
1070 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4771881 rs752610322 |
1070 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1376978967 CA371206562 |
1071 | G>E | No |
ClinGen TOPMed |
|
rs1008886908 CA178210610 |
1075 | G>C | No |
ClinGen TOPMed |
|
CA4771880 rs780576264 |
1077 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1432971720 CA371206270 |
1085 | D>H | No |
ClinGen TOPMed |
|
rs139223571 CA178210560 |
1086 | Q>H | No |
ClinGen ESP TOPMed |
|
CA4771879 rs754572236 |
1087 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371206189 rs1352936766 |
1087 | A>V | No |
ClinGen gnomAD |
|
rs751107137 CA4771878 |
1088 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751107137 CA371206188 |
1088 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371206150 rs996116653 |
1090 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs1279159476 CA371204107 |
1097 | V>A | No |
ClinGen TOPMed |
|
CA371203978 rs1342621540 |
1102 | D>G | No |
ClinGen TOPMed |
|
rs111784419 CA178205590 |
1104 | K>R | No |
ClinGen Ensembl |
|
rs1189670760 CA371203785 |
1111 | E>G | No |
ClinGen gnomAD |
|
CA4771857 rs754839021 |
1113 | I>T | No |
ClinGen ExAC gnomAD |
|
rs1188069454 CA371203701 |
1117 | S>G | No |
ClinGen gnomAD |
|
rs375461478 CA4771838 |
1131 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs779714564 CA4771837 |
1133 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1168145356 CA371201755 |
1138 | N>D | No |
ClinGen gnomAD |
|
CA178202109 rs924441420 |
1138 | N>S | No |
ClinGen TOPMed |
|
CA4771812 rs778208022 |
1145 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756525677 CA4771810 |
1145 | R>H | No |
ClinGen ExAC gnomAD |
|
rs778208022 CA4771811 |
1145 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4771808 rs781692371 |
1152 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA178201910 rs955116586 |
1153 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
TCGA novel | 1154 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4771806 rs751681115 |
1157 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1288100333 CA371201462 |
1158 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA371201457 rs1219606941 |
1159 | T>A | No |
ClinGen TOPMed |
|
rs1347785695 CA371201455 |
1159 | T>I | No |
ClinGen gnomAD |
|
rs763241729 CA4771804 |
1160 | H>N | No |
ClinGen ExAC gnomAD |
|
rs1386468724 CA371201442 |
1161 | P>R | No |
ClinGen gnomAD |
|
rs1387736660 CA371201385 |
1169 | I>V | No |
ClinGen gnomAD |
|
CA178201871 rs868146086 |
1177 | M>I | No |
ClinGen Ensembl |
|
rs1261256523 CA371201205 |
1182 | L>I | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1184 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4771801 rs760613968 |
1188 | W>S | No |
ClinGen ExAC gnomAD |
|
rs867694198 CA178201469 |
1202 | P>S | No |
ClinGen TOPMed |
|
CA371200541 rs1587085799 |
1206 | V>I | No |
ClinGen Ensembl |
|
CA371200513 rs1381218522 |
1208 | I>V | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1209 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA178201441 rs998787281 |
1211 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs1295551174 CA371200258 |
1219 | M>I | No |
ClinGen gnomAD |
|
rs1587085716 CA371200271 |
1219 | M>V | No |
ClinGen Ensembl |
|
rs1454509000 CA371200254 |
1220 | K>Q | No |
ClinGen gnomAD |
|
rs747757030 CA4771774 COSM3951807 |
1225 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
TCGA novel | 1236 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1240 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4771771 rs747385663 |
1242 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA4771769 rs758907802 |
1243 | I>T | No |
ClinGen ExAC gnomAD |
|
CA371199780 rs1206103055 |
1246 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA371199782 rs1253162847 |
1246 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA4771744 rs751331329 |
1249 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1257063541 CA371199688 |
1251 | T>I | No |
ClinGen TOPMed |
|
CA4771743 rs553520474 |
1253 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4771742 rs758271830 |
1258 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1242748363 CA371199646 |
1258 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA178201162 rs988555627 |
1261 | A>G | No |
ClinGen Ensembl |
|
rs750301034 CA4771741 |
1263 | M>T | No |
ClinGen ExAC gnomAD |
|
CA4771739 rs761379423 |
1268 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1321093475 CA371199543 |
1270 | N>D | No |
ClinGen gnomAD |
|
rs1460485840 CA371199456 |
1275 | W>R | No |
ClinGen TOPMed |
|
CA371199399 rs1404084178 |
1276 | K>N | No |
ClinGen gnomAD |
|
rs1160560536 CA371199346 |
1278 | I>N | No |
ClinGen gnomAD |
|
rs1391397839 CA371199347 |
1278 | I>V | No |
ClinGen gnomAD |
|
rs955757386 CA178201133 |
1280 | S>A | No |
ClinGen TOPMed |
|
CA371199156 rs1410248694 |
1284 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs760327271 CA4771736 |
1286 | A>S | No |
ClinGen ExAC gnomAD |
|
rs760327271 CA371199091 |
1286 | A>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1286 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1478503998 CA371199058 |
1287 | S>F | No |
ClinGen gnomAD |
|
CA371199047 rs1246186593 |
1288 | D>H | No |
ClinGen gnomAD |
|
rs1196773781 CA371199016 |
1289 | Q>P | No |
ClinGen gnomAD |
|
CA371198987 rs1421230696 |
1290 | D>G | No |
ClinGen TOPMed |
|
CA4771735 rs775750702 |
1290 | D>N | No |
ClinGen ExAC gnomAD |
|
rs367664307 CA178201081 |
1293 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
CA178201075 rs978430189 |
1297 | A>E | No |
ClinGen Ensembl |
|
CA371198773 rs1563849840 |
1298 | F>L | No |
ClinGen Ensembl |
|
rs760137402 CA4771733 |
1300 | T>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1302 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4771731 rs374793420 |
1302 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA371198667 rs1340496124 |
1303 | H>N | No |
ClinGen gnomAD |
|
CA4771727 rs748333460 |
1304 | I>N | No |
ClinGen ExAC gnomAD |
|
CA4771728 rs769938373 |
1304 | I>V | No |
ClinGen ExAC gnomAD |
|
rs549571655 CA4771707 |
1306 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA371197170 rs1489949999 |
1309 | F>C | No |
ClinGen gnomAD |
|
rs1390858728 CA371197163 |
1310 | E>Q | No |
ClinGen gnomAD |
|
rs1168106065 CA371197145 |
1311 | K>* | No |
ClinGen gnomAD |
|
TCGA novel | 1312 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1312 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1312 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4771706 CA371197108 rs773167167 |
1313 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4771705 rs769851880 |
1314 | P>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1315 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4771704 rs142115845 |
1315 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1482780011 CA371197069 |
1317 | I>V | No |
ClinGen gnomAD |
|
TCGA novel CA4771702 rs768834501 |
1318 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
rs745712094 CA4771701 |
1319 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200846406 CA4771699 |
1320 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA371196967 rs1184994996 |
1323 | A>E | No |
ClinGen TOPMed |
|
CA4771698 rs201732515 |
1323 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA371196799 rs1282861285 |
1330 | F>I | No |
ClinGen gnomAD |
|
rs767341513 CA4771694 |
1331 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4771692 rs751980171 |
1332 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4771691 rs766814154 |
1333 | N>H | No |
ClinGen ExAC gnomAD |
|
rs1216229672 CA371196731 |
1333 | N>S | No |
ClinGen gnomAD |
|
CA4771690 rs763579019 |
1335 | A>D | No |
ClinGen ExAC gnomAD |
|
rs1563849152 CA371196656 |
1335 | A>S | No |
ClinGen Ensembl |
|
CA371196612 rs1411354649 |
1337 | P>A | No |
ClinGen gnomAD |
|
TCGA novel | 1340 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371196497 rs1460460227 |
1340 | S>N | No |
ClinGen TOPMed |
|
rs1406844180 CA371196308 |
1345 | R>Q | No |
ClinGen TOPMed |
|
CA371196246 rs1472796528 |
1347 | I>T | No |
ClinGen gnomAD |
|
CA178199894 rs370394131 |
1348 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
COSM1101210 rs1250558374 CA371196206 |
1348 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs773820080 CA4771689 |
1350 | C>R | No |
ClinGen ExAC gnomAD |
|
CA4771688 rs765632256 |
1353 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA4771685 rs199775958 |
1356 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1347846005 CA371195891 |
1356 | D>H | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1362 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1322434117 CA371195349 |
1364 | Y>C | No |
ClinGen gnomAD |
|
CA4771668 rs764116931 |
1366 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM3432512 rs775735472 CA4771666 |
1367 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs773726515 CA4771665 |
1369 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA178198914 rs961858754 |
1371 | V>I | No |
ClinGen gnomAD |
|
CA371195118 rs1249402722 |
1372 | A>V | No |
ClinGen gnomAD |
|
rs1246422272 CA371194996 |
1377 | V>L | No |
ClinGen gnomAD |
|
TCGA novel | 1378 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA178198878 rs78319917 |
1383 | F>V | No |
ClinGen Ensembl |
|
rs780874117 CA4771659 |
1384 | P>A | No |
ClinGen ExAC gnomAD |
|
rs377506272 CA4771658 |
1385 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA371194801 rs1368615255 |
1386 | L>V | No |
ClinGen Ensembl |
|
rs1256757226 CA371194766 |
1387 | F>C | No |
ClinGen gnomAD |
|
CA4771657 rs746489087 |
1389 | L>I | No |
ClinGen ExAC gnomAD |
|
CA4771656 rs779920834 |
1390 | S>F | No |
ClinGen ExAC |
|
CA371194666 rs1299997718 |
1392 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs750813318 CA4771654 |
1394 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371194581 rs1316136340 |
1395 | R>K | No |
ClinGen gnomAD |
|
CA371194419 rs1301876508 |
1401 | R>T | No |
ClinGen gnomAD |
|
rs1013775742 CA178194167 |
1412 | M>T | No |
ClinGen TOPMed |
|
rs1254196396 CA371192385 |
1415 | Y>C | No |
ClinGen gnomAD |
|
CA371192306 rs1271022707 |
1417 | H>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA4771639 rs779653335 |
1418 | T>A | No |
ClinGen ExAC gnomAD |
|
CA178194141 rs775589893 |
1421 | K>T | No |
ClinGen Ensembl |
|
TCGA novel | 1425 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1427 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1214812941 CA371191855 COSM605944 |
1429 | R>I | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA4771636 rs779355989 |
1432 | F>S | No |
ClinGen ExAC gnomAD |
|
CA371191488 rs1288559470 |
1441 | P>R | No |
ClinGen gnomAD |
|
rs1217832756 CA371191447 |
1443 | Q>R | No |
ClinGen TOPMed |
|
rs1307431671 CA371190506 |
1453 | T>I | No |
ClinGen TOPMed |
|
CA371190305 rs1320471329 |
1460 | Y>F | No |
ClinGen TOPMed |
|
CA4771607 rs766569116 |
1461 | A>S | No |
ClinGen ExAC gnomAD |
|
rs1478371319 CA371190281 |
1462 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA4771605 rs753691197 |
1464 | D>V | No |
ClinGen ExAC gnomAD |
|
CA178192875 rs914514650 |
1471 | E>K | No |
ClinGen Ensembl |
|
TCGA novel | 1474 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371189953 rs1179940786 |
1474 | S>R | No |
ClinGen TOPMed |
|
CA371189911 rs1445097490 |
1475 | D>G | No |
ClinGen gnomAD |
|
rs1230870028 CA371189865 |
1476 | V>A | No |
ClinGen TOPMed |
|
rs1280240081 CA371189892 |
1476 | V>I | No |
ClinGen gnomAD |
|
CA4771602 rs775335992 |
1481 | I>V | No |
ClinGen ExAC gnomAD |
|
rs142342517 CA4771601 |
1483 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs759031840 CA4771600 |
1486 | Y>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1488 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1321816950 CA371189523 |
1489 | V>L | No |
ClinGen gnomAD |
|
CA178192620 rs772338295 |
1499 | S>P | No |
ClinGen Ensembl |
|
CA4771571 rs772327347 |
1503 | C>Y | No |
ClinGen ExAC gnomAD |
|
CA4771570 rs745909815 |
1507 | V>I | No |
ClinGen ExAC gnomAD |
|
CA178192555 rs984450556 |
1509 | I>V | No |
ClinGen Ensembl |
|
CA178192554 rs951697257 |
1511 | N>S | No |
ClinGen TOPMed |
|
CA371188687 rs1478731972 |
1513 | E>K | No |
ClinGen TOPMed |
|
CA371188643 rs1204421626 |
1515 | F>S | No |
ClinGen gnomAD |
|
CA4771566 rs562598310 |
1517 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA4771567 rs752446276 |
1517 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1521 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs200528352 CA4771564 |
1522 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371188494 rs1414609273 |
1524 | C>F | No |
ClinGen TOPMed |
|
rs1038538095 CA178192517 |
1525 | N>D | No |
ClinGen Ensembl |
|
CA4771562 rs762520131 |
1525 | N>K | No |
ClinGen ExAC gnomAD |
|
CA4771563 rs766277577 |
1525 | N>S | No |
ClinGen ExAC gnomAD |
|
CA4771561 rs749924378 |
1529 | D>H | No |
ClinGen ExAC |
|
rs111800527 CA178192507 |
1531 | F>L | No |
ClinGen Ensembl |
|
rs761463781 CA371188370 |
1532 | K>E | No |
ClinGen ExAC gnomAD |
|
rs761463781 CA4771559 |
1532 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA371188318 rs1351481157 |
1535 | I>V | No |
ClinGen gnomAD |
|
rs1158418686 CA371188297 |
1536 | P>L | No |
ClinGen gnomAD |
|
CA371188285 rs1440764608 |
1538 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1045151994 COSM1457932 CA178192501 |
1538 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs1368306069 CA371187888 |
1539 | L>M | No |
ClinGen TOPMed |
|
TCGA novel | 1542 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs749942462 CA371187771 |
1543 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764686681 CA4771540 |
1543 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761394814 CA178191725 |
1545 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4771539 rs761394814 |
1545 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753576102 CA4771538 |
1547 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1004723225 CA178191695 |
1548 | E>G | No |
ClinGen Ensembl |
|
CA178191691 rs886278417 |
1549 | T>A | No |
ClinGen TOPMed |
|
CA371187687 rs886278417 |
1549 | T>P | No |
ClinGen TOPMed |
|
CA4771537 rs763622698 |
1550 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4771536 rs761167080 |
1551 | P>H | No |
ClinGen ExAC |
|
rs528881590 CA178191673 |
1551 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
rs142098461 CA371187651 |
1552 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4771532 rs142098461 |
1552 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs142098461 CA4771533 |
1552 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs772716482 CA4771534 |
1552 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1158560535 CA371187641 |
1553 | P>L | No |
ClinGen TOPMed |
|
CA4771530 rs374667605 |
1553 | P>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
rs774148781 | 1553 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA4771529 rs749301225 |
1556 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4771528 rs773554490 |
1558 | S>N | No |
ClinGen ExAC gnomAD |
|
CA371187528 rs1461552161 |
1561 | P>S | No |
ClinGen TOPMed |
|
rs748331865 CA4771505 |
1563 | D>V | No |
ClinGen ExAC |
|
CA178188523 rs143577156 |
1563 | D>Y | No |
ClinGen ESP gnomAD |
|
CA4771503 rs771904962 |
1564 | T>I | No |
ClinGen ExAC gnomAD |
|
CA371186431 rs1338593829 |
1565 | I>V | No |
ClinGen gnomAD |
|
rs778974444 CA4771501 |
1566 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778974444 CA371186407 |
1566 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA178188508 rs538530120 |
1567 | Q>H | No |
ClinGen gnomAD |
|
rs947225314 CA178188507 |
1568 | K>T | No |
ClinGen Ensembl |
|
rs757127977 CA4771500 |
1569 | S>F | No |
ClinGen ExAC gnomAD |
|
rs1292257643 CA371186341 |
1570 | V>I | No |
ClinGen gnomAD |
|
rs368780304 CA4771498 |
1572 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4771497 rs368780304 |
1572 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs748842649 COSM77284 CA4771499 |
1572 | I>V | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1384835038 CA371186279 |
1573 | H>L | No |
ClinGen TOPMed |
|
CA371186265 rs1563839149 |
1573 | H>Q | No |
ClinGen Ensembl |
|
CA178188466 rs914079132 |
1574 | D>G | No |
ClinGen TOPMed |
|
rs991217984 CA178188450 |
1578 | P>R | No |
ClinGen Ensembl |
|
rs1308125389 CA371186185 |
1578 | P>S | No |
ClinGen TOPMed |
|
rs755463973 CA4771494 |
1579 | R>G | No |
ClinGen ExAC gnomAD |
|
rs751961605 CA4771493 |
1581 | V>A | No |
ClinGen ExAC gnomAD |
|
CA178188414 rs371657272 |
1582 | D>N | No |
ClinGen ESP TOPMed |
|
rs1164327469 CA371186095 |
1583 | N>S | No |
ClinGen Ensembl |
|
CA371186085 rs766927159 |
1584 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA178188393 rs185041603 |
1584 | R>S | No |
ClinGen 1000Genomes |
|
CA4771492 rs766927159 |
1584 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1474387977 CA371186068 |
1585 | P>L | No |
ClinGen gnomAD |
|
rs1164463476 CA371186075 |
1585 | P>T | No |
ClinGen gnomAD |
|
CA371185956 rs1182543725 |
1590 | V>F | No |
ClinGen gnomAD |
|
rs771627826 CA178188372 |
1591 | S>F | No |
ClinGen gnomAD |
|
rs771627826 CA371185944 |
1591 | S>Y | No |
ClinGen gnomAD |
|
CA4771490 rs200067038 |
1592 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs148891437 CA4771489 |
1592 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1231068075 CA371185913 |
1594 | A>T | No |
ClinGen gnomAD |
|
rs192893582 CA4771486 |
1596 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs759384353 CA4771485 |
1597 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1181758314 CA371185848 |
1599 | V>A | No |
ClinGen TOPMed |
|
CA371185774 rs1563839023 |
1605 | T>A | No |
ClinGen Ensembl |
|
rs1327415815 CA371185771 |
1605 | T>R | No |
ClinGen gnomAD |
|
CA4771467 rs753899026 |
1608 | F>L | No |
ClinGen ExAC gnomAD |
|
rs760819223 CA4771465 |
1610 | E>A | No |
ClinGen ExAC gnomAD |
|
rs774229384 CA4771464 |
1616 | A>V | Variant assessed as Somatic; 4.636e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs770578752 CA4771463 |
1621 | C>R | No |
ClinGen ExAC gnomAD |
|
rs1438619127 CA371210203 |
1629 | Q>H | No |
ClinGen TOPMed |
|
rs1321046312 CA371210199 |
1630 | T>A | No |
ClinGen gnomAD |
|
CA371210191 rs1192023379 |
1631 | I>V | No |
ClinGen gnomAD |
|
rs773060622 CA4771461 |
1632 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA4771460 rs201164020 |
1633 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1346565578 CA371210155 |
1634 | I>F | No |
ClinGen gnomAD |
|
rs1346565578 CA371210156 |
1634 | I>V | No |
ClinGen gnomAD |
|
rs1280207113 CA371210150 |
1635 | V>I | No |
ClinGen gnomAD |
|
TCGA novel | 1636 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4771459 rs747676449 |
1637 | F>S | No |
ClinGen ExAC gnomAD |
|
rs1364504901 CA371210109 |
1639 | A>T | No |
ClinGen gnomAD |
|
TCGA novel | 1644 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1164047191 CA371210006 |
1653 | Q>R | No |
ClinGen TOPMed |
|
rs202145371 CA4771437 |
1655 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746498172 CA4771438 |
1655 | D>N | No |
ClinGen ExAC gnomAD |
|
rs771740489 CA4771436 |
1656 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371209973 rs771740489 |
1656 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs779182355 CA4771434 |
1661 | V>A | No |
ClinGen ExAC gnomAD |
|
rs146795624 CA4771433 |
1662 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs747174516 CA4771432 |
1662 | R>H | No |
ClinGen ExAC gnomAD |
|
rs756186000 CA371209933 |
1663 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4771430 rs756186000 |
1663 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371209927 rs1475879568 |
1664 | D>H | No |
ClinGen gnomAD |
|
CA371209920 rs1420868062 |
1665 | T>P | No |
ClinGen gnomAD |
|
rs752814909 CA4771429 |
1667 | D>N | No |
ClinGen ExAC gnomAD |
|
CA371209905 rs752814909 |
1667 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1310875470 CA371209866 |
1672 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs200392828 CA4771428 |
1672 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA178225765 rs753932107 |
1673 | F>L | No |
ClinGen Ensembl |
|
CA4771427 rs755163996 |
1673 | F>Y | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1674 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1676 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs765248096 CA4771425 |
1687 | L>S | No |
ClinGen ExAC gnomAD |
|
rs1460740152 CA371209751 |
1689 | S>A | No |
ClinGen gnomAD |
|
rs776749836 CA4771423 |
1691 | R>* | No |
ClinGen ExAC gnomAD |
|
CA371209708 rs140098688 |
1695 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs140098688 COSM194695 CA4771421 |
1695 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs745494130 CA4771418 |
1700 | N>S | No |
ClinGen ExAC gnomAD |
|
CA371209669 rs771330319 |
1701 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs771330319 CA4771416 |
1701 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371209643 rs1195608205 |
1704 | T>S | No |
ClinGen TOPMed |
|
CA371209641 rs1317577733 |
1705 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA371209631 rs1265932859 |
1706 | L>R | No |
ClinGen gnomAD |
|
CA371209618 rs1223715004 |
1708 | K>T | No |
ClinGen gnomAD |
|
TCGA novel | 1709 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1710 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4771396 rs770563842 |
1715 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371208905 rs770563842 |
1715 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1718 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1718 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs763363183 CA4771395 |
1718 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs773562348 CA4771394 |
1720 | L>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1725 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1174799553 CA371208838 |
1725 | S>T | No |
ClinGen gnomAD |
|
CA4771392 rs748644009 |
1729 | C>S | No |
ClinGen ExAC gnomAD |
|
CA4771391 rs781533455 |
1730 | G>R | No |
ClinGen ExAC gnomAD |
|
CA371208777 rs1563832518 |
1732 | R>C | No |
ClinGen Ensembl |
|
TCGA novel | 1733 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1261248319 CA371208730 |
1736 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA4771390 rs112331011 |
1736 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1295752067 CA371208698 |
1739 | M>T | No |
ClinGen gnomAD |
|
CA4771389 rs376386254 |
1739 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
CA371208664 rs1211586520 |
1742 | S>G | No |
ClinGen TOPMed |
|
CA371208659 rs1258403438 |
1742 | S>N | No |
ClinGen gnomAD |
|
rs200667386 CA178224596 |
1742 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA4771387 rs758636963 |
1743 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA4771386 rs753689074 |
1743 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs372291665 CA4771384 |
1744 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1587023221 CA371208634 |
1745 | S>G | No |
ClinGen Ensembl |
|
CA4771383 rs148841369 |
1745 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA371208622 rs1169338020 |
1746 | A>S | No |
ClinGen gnomAD |
|
rs141949495 CA4771382 |
1749 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs909120619 CA178224565 |
1755 | L>S | No |
ClinGen TOPMed gnomAD |
|
rs1352195908 CA371208437 |
1758 | C>S | No |
ClinGen gnomAD |
|
CA4771352 rs775732841 |
1771 | E>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1772 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA371208311 rs1455115002 |
1773 | H>R | No |
ClinGen TOPMed |
|
CA371208305 rs1232838320 |
1774 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs745904733 CA4771350 |
1775 | E>K | No |
ClinGen ExAC gnomAD |
|
CA371208295 rs1372245205 |
1776 | A>P | No |
ClinGen gnomAD |
|
CA371207881 rs1159159227 |
1784 | F>L | No |
ClinGen gnomAD |
|
rs554847027 CA178223813 |
1787 | K>N | No |
ClinGen Ensembl |
|
TCGA novel | 1789 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs774697108 CA4771349 |
1791 | I>M | No |
ClinGen ExAC gnomAD |
|
rs771042710 CA4771348 |
1792 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA371207747 rs1195463388 |
1792 | S>T | No |
ClinGen gnomAD |
|
CA371207696 rs780928406 |
1795 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1282973032 CA371206599 |
1796 | F>L | No |
ClinGen TOPMed |
|
CA4771285 rs770883946 |
1803 | Y>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1803 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4771284 rs748819686 |
1804 | Y>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1805 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs772781521 CA4771283 |
1807 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1488246912 CA371206408 |
1808 | C>Y | No |
ClinGen gnomAD |
|
CA4771281 rs747854182 |
1811 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1249315086 CA371206272 |
1815 | L>F | No |
ClinGen TOPMed |
|
rs1051426438 CA178222536 |
1815 | L>M | No |
ClinGen TOPMed gnomAD |
|
CA4771279 rs755365542 |
1817 | P>A | No |
ClinGen ExAC gnomAD |
|
CA371206200 rs1301632153 |
1820 | R>H | No |
ClinGen gnomAD |
|
CA371206190 rs1386019458 |
1821 | A>V | No |
ClinGen gnomAD |
|
CA4771278 rs780443181 |
1822 | V>I | No |
ClinGen ExAC gnomAD |
|
CA4771277 rs780443181 |
1822 | V>L | No |
ClinGen ExAC gnomAD |
|
rs879166392 CA178222530 |
1823 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA371206167 rs1189313598 |
1824 | R>G | No |
ClinGen TOPMed |
|
TCGA novel | 1829 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
COSM274020 rs750537195 CA4771274 |
1831 | G>R | kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs765254352 CA4771273 |
1832 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1177181414 CA371205934 |
1835 | Q>H | No |
ClinGen gnomAD |
|
CA4771272 rs757302258 |
1836 | I>L | No |
ClinGen ExAC gnomAD |
|
CA4771271 rs754044082 |
1837 | S>P | No |
ClinGen ExAC gnomAD |
|
rs754044082 CA371205917 |
1837 | S>T | No |
ClinGen ExAC gnomAD |
|
rs921667617 CA178222510 |
1842 | Q>R | No |
ClinGen TOPMed |
|
CA371205779 rs1214544003 |
1843 | E>A | No |
ClinGen gnomAD |
|
CA178222508 rs991959376 |
1844 | L>F | No |
ClinGen gnomAD |
|
rs764369258 CA4771270 |
1849 | Q>* | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9Y6D6
Functions
9 GO annotations of cellular component
Name | Definition |
---|---|
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
small nuclear ribonucleoprotein complex | A ribonucleoprotein complex that contains at least one RNA of the small nuclear RNA (snRNA) class and as well as its associated proteins. These are typically named after the snRNA(s) they contain, e.g. U1 snRNP, U4/U6 snRNP, or 7SK snRNP. Many, of these complexes become part of the spliceosome involved in splicing of nuclear mRNAs. Others are involved in regulation of transcription elongation or 3'-end processing of replication-dependent histone pre-mRNAs. |
trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
3 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. |
myosin binding | Binding to a myosin; myosins are any of a superfamily of molecular motor proteins that bind to actin and use the energy of ATP hydrolysis to generate force and movement along actin filaments. |
protein kinase A regulatory subunit binding | Binding to one or both of the regulatory subunits of protein kinase A. |
10 GO annotations of biological process
Name | Definition |
---|---|
endomembrane system organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endomembrane system. |
exocytosis | A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. |
Golgi organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus. |
negative regulation of actin filament polymerization | Any process that stops, prevents, or reduces the frequency, rate or extent of actin polymerization. |
negative regulation of GTPase activity | Any process that stops or reduces the rate of GTP hydrolysis by a GTPase. |
positive regulation of wound healing | Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. |
protein glycosylation | A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. |
protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
regulation of ARF protein signal transduction | Any process that modulates the frequency, rate or extent of ARF protein signal transduction. |
regulation of establishment of cell polarity | Any process that modulates the frequency, rate or extent of establishment of cell polarity. |
14 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
O46382 | ARFGEF1 | Brefeldin A-inhibited guanine nucleotide-exchange protein 1 | Bos taurus (Bovine) | PR |
Q9Y6D5 | ARFGEF2 | Brefeldin A-inhibited guanine nucleotide-exchange protein 2 | Homo sapiens (Human) | PR |
Q9UIA0 | CYTH4 | Cytohesin-4 | Homo sapiens (Human) | SS |
Q5JU85 | IQSEC2 | IQ motif and SEC7 domain-containing protein 2 | Homo sapiens (Human) | EV |
Q9UPP2 | IQSEC3 | IQ motif and SEC7 domain-containing protein 3 | Homo sapiens (Human) | SS |
Q6DN90 | IQSEC1 | IQ motif and SEC7 domain-containing protein 1 | Homo sapiens (Human) | EV |
Q99418 | CYTH2 | Cytohesin-2 | Homo sapiens (Human) | SS |
O43739 | CYTH3 | Cytohesin-3 | Homo sapiens (Human) | EV |
Q15438 | CYTH1 | Cytohesin-1 | Homo sapiens (Human) | SS |
Q92538 | GBF1 | Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 | Homo sapiens (Human) | PR |
A2A5R2 | Arfgef2 | Brefeldin A-inhibited guanine nucleotide-exchange protein 2 | Mus musculus (Mouse) | PR |
G3X9K3 | Arfgef1 | Brefeldin A-inhibited guanine nucleotide-exchange protein 1 | Mus musculus (Mouse) | PR |
D4A631 | Arfgef1 | Brefeldin A-inhibited guanine nucleotide-exchange protein 1 | Rattus norvegicus (Rat) | PR |
Q7TSU1 | Arfgef2 | Brefeldin A-inhibited guanine nucleotide-exchange protein 2 | Rattus norvegicus (Rat) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MYEGKKTKNM | FLTRALEKIL | ADKEVKKAHH | SQLRKACEVA | LEEIKAETEK | QSPPHGEAKA |
70 | 80 | 90 | 100 | 110 | 120 |
GSSTLPPVKS | KTNFIEADKY | FLPFELACQS | KCPRIVSTSL | DCLQKLIAYG | HLTGNAPDST |
130 | 140 | 150 | 160 | 170 | 180 |
TPGKKLIDRI | IETICGCFQG | PQTDEGVQLQ | IIKALLTAVT | SQHIEIHEGT | VLQAVRTCYN |
190 | 200 | 210 | 220 | 230 | 240 |
IYLASKNLIN | QTTAKATLTQ | MLNVIFARME | NQALQEAKQM | EKERHRQHHH | LLQSPVSHHE |
250 | 260 | 270 | 280 | 290 | 300 |
PESPQLRYLP | PQTVDHISQE | HEGDLDLHTN | DVDKSLQDDT | EPENGSDISS | AENEQTEADQ |
310 | 320 | 330 | 340 | 350 | 360 |
ATAAETLSKN | EVLYDGENHD | CEEKPQDIVQ | NIVEEMVNIV | VGDMGEGTTI | NASADGNIGT |
370 | 380 | 390 | 400 | 410 | 420 |
IEDGSDSENI | QANGIPGTPI | SVAYTPSLPD | DRLSVSSNDT | QESGNSSGPS | PGAKFSHILQ |
430 | 440 | 450 | 460 | 470 | 480 |
KDAFLVFRSL | CKLSMKPLSD | GPPDPKSHEL | RSKILSLQLL | LSILQNAGPI | FRTNEMFINA |
490 | 500 | 510 | 520 | 530 | 540 |
IKQYLCVALS | KNGVSSVPEV | FELSLSIFLT | LLSNFKTHLK | MQIEVFFKEI | FLYILETSTS |
550 | 560 | 570 | 580 | 590 | 600 |
SFDHKWMVIQ | TLTRICADAQ | SVVDIYVNYD | CDLNAANIFE | RLVNDLSKIA | QGRGSQELGM |
610 | 620 | 630 | 640 | 650 | 660 |
SNVQELSLRK | KGLECLVSIL | KCMVEWSKDQ | YVNPNSQTTL | GQEKPSEQEM | SEIKHPETIN |
670 | 680 | 690 | 700 | 710 | 720 |
RYGSLNSLES | TSSSGIGSYS | TQMSGTDNPE | QFEVLKQQKE | IIEQGIDLFN | KKPKRGIQYL |
730 | 740 | 750 | 760 | 770 | 780 |
QEQGMLGTTP | EDIAQFLHQE | ERLDSTQVGE | FLGDNDKFNK | EVMYAYVDQH | DFSGKDFVSA |
790 | 800 | 810 | 820 | 830 | 840 |
LRMFLEGFRL | PGEAQKIDRL | MEKFAARYLE | CNQGQTLFAS | ADTAYVLAYS | IIMLTTDLHS |
850 | 860 | 870 | 880 | 890 | 900 |
PQVKNKMTKE | QYIKMNRGIN | DSKDLPEEYL | SAIYNEIAGK | KISMKETKEL | TIPTKSSKQN |
910 | 920 | 930 | 940 | 950 | 960 |
VASEKQRRLL | YNLEMEQMAK | TAKALMEAVS | HVQAPFTSAT | HLEHVRPMFK | LAWTPFLAAF |
970 | 980 | 990 | 1000 | 1010 | 1020 |
SVGLQDCDDT | EVASLCLEGI | RCAIRIACIF | SIQLERDAYV | QALARFTLLT | VSSGITEMKQ |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
KNIDTIKTLI | TVAHTDGNYL | GNSWHEILKC | ISQLELAQLI | GTGVKPRYIS | GTVRGREGSL |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
TGTKDQAPDE | FVGLGLVGGN | VDWKQIASIQ | ESIGETSSQS | VVVAVDRIFT | GSTRLDGNAI |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
VDFVRWLCAV | SMDELLSTTH | PRMFSLQKIV | EISYYNMGRI | RLQWSRIWEV | IGDHFNKVGC |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
NPNEDVAIFA | VDSLRQLSMK | FLEKGELANF | RFQKDFLRPF | EHIMKRNRSP | TIRDMVVRCI |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
AQMVNSQAAN | IRSGWKNIFS | VFHLAASDQD | ESIVELAFQT | TGHIVTLVFE | KHFPATIDSF |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
QDAVKCLSEF | ACNAAFPDTS | MEAIRLIRHC | AKYVSDRPQA | FKEYTSDDMN | VAPEDRVWVR |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
GWFPILFELS | CIINRCKLDV | RTRGLTVMFE | IMKTYGHTYE | KHWWQDLFRI | VFRIFDNMKL |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
PEQQTEKAEW | MTTTCNHALY | AICDVFTQYL | EVLSDVLLDD | IFAQLYWCVQ | QDNEQLARSG |
1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
TNCLENVVIL | NGEKFTLEIW | DKTCNCTLDI | FKTTIPHALL | TWRPNSGETA | PPPPSPVSEK |
1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
PLDTISQKSV | DIHDSIQPRS | VDNRPQAPLV | SASAVNEEVS | KIKSTAKFPE | QKLFAALLIK |
1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
CVVQLELIQT | IDNIVFFPAT | SKKEDAENLA | AAQRDAVDFD | VRVDTQDQGM | YRFLTSQQLF |
1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
KLLDCLLESH | RFAKAFNSNN | EQRTALWKAG | FKGKSKPNLL | KQETSSLACG | LRILFRMYMD |
1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
ESRVSAWEEV | QQRLLNVCSE | ALSYFLTLTS | ESHREAWTNL | LLLFLTKVLK | ISDNRFKAHA |
1810 | 1820 | 1830 | 1840 | ||
SFYYPLLCEI | MQFDLIPELR | AVLRRFFLRI | GVVFQISQPP | EQELGINKQ |