O60518
PR
Gene name |
RANBP6 |
Protein name |
Ran-binding protein 6 |
Names |
RanBP6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26953 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for O60518
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O60518-F1 | Predicted | AlphaFoldDB |
944 variants for O60518
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1363306129 CA372893686 |
2 | A>V | No |
ClinGen gnomAD |
|
|
CA372893681 rs777633234 |
3 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978668 rs777633234 |
3 | A>V | Variant assessed as Somatic; 8.333e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4978666 rs753159616 |
4 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978663 rs754376396 |
5 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561165188 CA4978665 |
5 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4978664 rs754376396 |
5 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587507195 CA372893670 |
6 | S>A | No |
ClinGen Ensembl |
|
|
CA372893663 rs766313136 |
7 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs766313136 CA4978662 |
7 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs766313136 CA372893662 |
7 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs373302472 CA372893660 |
8 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4978659 rs772324078 |
8 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978660 rs373302472 |
8 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372893652 COSM4007237 rs1587507150 |
9 | V>G | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs769632096 CA4978656 COSM1109514 |
10 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs769632096 CA4978657 |
10 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769632096 CA372893649 |
10 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978658 rs762719423 |
10 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4978655 rs138588521 |
11 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1259183751 CA372893647 |
11 | A>P | No |
ClinGen TOPMed |
|
|
rs138588521 CA372893644 |
11 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770559276 CA4978653 |
15 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1289946602 CA372893611 |
16 | K>N | No |
ClinGen gnomAD |
|
|
rs777545173 CA4978652 |
18 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1020977389 CA188641622 COSM1314868 |
18 | E>Q | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1587507084 CA372893598 |
18 | E>V | No |
ClinGen Ensembl |
|
|
CA4978650 rs758075084 |
19 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA372893584 rs1314930022 |
20 | Y>F | No |
ClinGen TOPMed |
|
|
CA372893587 rs1451742989 |
20 | Y>H | No |
ClinGen TOPMed |
|
|
CA372893581 rs1163189292 |
21 | Q>E | No |
ClinGen gnomAD |
|
|
CA372893575 rs1445391795 |
21 | Q>H | No |
ClinGen gnomAD |
|
|
rs374892073 CA188641611 |
22 | L>F | No |
ClinGen ESP TOPMed |
|
|
rs201968770 CA4978649 |
24 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA188641596 rs977196123 |
25 | N>K | No |
ClinGen Ensembl |
|
|
rs779080550 CA4978648 |
27 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486573365 CA372893534 |
28 | N>S | No |
ClinGen gnomAD |
|
|
CA188641590 rs1028849903 |
29 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372893524 rs1359794232 |
30 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA372893520 rs1293479194 |
30 | S>N | No |
ClinGen gnomAD |
|
|
CA372893519 COSM4163946 rs754289134 |
30 | S>R | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM4163946 rs1359794232 CA372893525 |
30 | S>R | thyroid [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1293479194 CA372893521 |
30 | S>T | No |
ClinGen gnomAD |
|
|
CA4978645 rs766978491 |
31 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1296964088 CA372893514 |
31 | C>S | No |
ClinGen gnomAD |
|
|
rs183791528 CA4978644 |
32 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 32 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4978643 rs750553940 |
33 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA188641573 rs750553940 COSM1569941 |
33 | V>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1302698413 CA372893478 |
37 | A>T | No |
ClinGen gnomAD |
|
|
rs1213905032 CA372893470 |
38 | E>* | No |
ClinGen TOPMed |
|
|
rs577421130 CA4978641 |
44 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768510899 CA188641553 |
45 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs768510899 CA188641556 |
45 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs776400166 CA4978637 |
46 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA372893189 rs1332348691 |
47 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 48 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4978636 rs771039927 |
50 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA372893163 rs1177658178 |
51 | T>A | No |
ClinGen TOPMed |
|
|
CA4978635 rs541009325 |
52 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372893149 rs1423535599 |
53 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1423535599 CA372893150 |
53 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA188639712 rs866236923 |
55 | D>G | No |
ClinGen Ensembl |
|
|
rs771714134 CA4978633 |
55 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 56 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1563990805 CA372893128 |
56 | A>G | No |
ClinGen Ensembl |
|
|
rs747700133 CA4978632 |
59 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4978631 rs778686581 |
61 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs755295991 CA4978630 |
63 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA372893062 rs1283175619 |
66 | V>A | No |
ClinGen gnomAD |
|
|
rs1283175619 CA372893061 |
66 | V>G | No |
ClinGen gnomAD |
|
|
CA4978628 rs780520029 |
68 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA188639686 rs1001368829 |
68 | Q>H | No |
ClinGen Ensembl |
|
|
rs140521084 CA188639675 CA372893042 |
69 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs756568863 CA4978627 |
69 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs756568863 CA372893044 |
69 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 70 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372893030 rs1395514997 |
71 | A>G | No |
ClinGen gnomAD |
|
|
rs1463320454 CA372893025 |
72 | A>V | No |
ClinGen gnomAD |
|
|
rs1362654151 CA372893021 |
73 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4978626 rs750929612 |
74 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA188639665 rs1055309727 |
77 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA188639656 rs938162412 |
77 | L>P | No |
ClinGen TOPMed |
|
|
rs757383190 CA4978622 |
78 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372892988 rs1436929488 |
79 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA372892980 rs1460235862 CA372892981 |
81 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1587506795 CA372892973 |
82 | F>V | No |
ClinGen Ensembl |
|
|
rs373190234 CA4978619 |
83 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA372892958 rs1325773777 |
84 | E>A | No |
ClinGen gnomAD |
|
|
CA4978618 rs776437792 |
84 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA372892948 rs1587506784 |
85 | V>G | No |
ClinGen Ensembl |
|
|
rs1277784318 CA372892943 |
86 | Y>H | No |
ClinGen gnomAD |
|
|
CA4978617 rs766307569 |
87 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA372892927 rs1336637502 |
87 | P>R | No |
ClinGen gnomAD |
|
|
CA4978616 rs151268042 |
88 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA188639620 rs151268042 |
88 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773296036 CA4978615 |
89 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA372892901 rs1403589173 |
90 | P>S | No |
ClinGen gnomAD |
|
|
rs1479645612 CA372892887 |
91 | A>V | No |
ClinGen TOPMed |
|
|
rs1336028261 CA372892883 |
92 | D>H | No |
ClinGen gnomAD |
|
|
CA188639616 rs905651432 |
92 | D>V | No |
ClinGen Ensembl |
|
|
rs111505202 CA372892855 |
94 | Q>P | No |
ClinGen TOPMed |
|
|
rs111505202 CA188639614 |
94 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 95 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4978613 rs761455357 |
96 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 96 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771696026 CA4978614 |
96 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470205666 CA372892832 |
96 | D>Y | No |
ClinGen gnomAD |
|
|
rs1183484056 CA372892785 |
100 | E>G | No |
ClinGen gnomAD |
|
|
CA4978611 rs768407495 |
100 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA372892782 rs1183484056 |
100 | E>V | No |
ClinGen gnomAD |
|
|
rs555096862 CA4978610 |
101 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372892762 rs1242854805 |
103 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1463103206 CA372892752 |
104 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372892747 rs1282756235 |
104 | A>V | No |
ClinGen gnomAD |
|
|
rs914197971 CA188639591 |
105 | V>A | No |
ClinGen TOPMed |
|
|
CA372892744 rs1204679633 |
105 | V>L | No |
ClinGen gnomAD |
|
|
CA4978609 rs780360595 |
109 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1243995306 CA372892692 |
110 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4978608 rs770153233 |
110 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA188639564 rs1024063907 |
111 | A>V | No |
ClinGen Ensembl |
|
|
rs1380329923 CA372892678 |
112 | S>C | No |
ClinGen gnomAD |
|
|
rs1380329923 CA372892680 |
112 | S>G | No |
ClinGen gnomAD |
|
|
rs746357443 CA4978607 |
113 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978606 rs781711215 |
115 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4978605 rs757250504 |
115 | K>R | No |
ClinGen ExAC gnomAD |
|
| rs1371022649 | 117 | L>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384991065 CA372892593 |
119 | D>G | No |
ClinGen gnomAD |
|
|
CA4978604 rs537072349 |
120 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1272716735 CA372892556 |
122 | A>V | No |
ClinGen TOPMed |
|
|
rs1214918682 CA372892545 |
124 | L>V | No |
ClinGen TOPMed |
|
|
rs758606577 CA4978602 |
128 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4978600 rs766219604 |
129 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752867543 CA4978601 |
129 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs760605819 CA4978599 |
130 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA4978598 rs146495684 |
132 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1447681333 CA372892462 |
133 | G>S | No |
ClinGen gnomAD |
|
|
rs1220547312 CA372892424 |
136 | H>Q | No |
ClinGen gnomAD |
|
|
CA4978596 rs761210438 |
138 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs773865320 CA4978595 |
138 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs770136669 CA4978591 |
144 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4978590 rs746269404 |
145 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978589 rs781646774 |
146 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs771419317 CA4978588 |
148 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA188639491 rs199840895 |
149 | Y>H | No |
ClinGen TOPMed |
|
|
rs1167585316 CA372892264 |
152 | N>K | No |
ClinGen TOPMed |
|
|
CA372892268 rs1587506549 |
152 | N>T | No |
ClinGen Ensembl |
|
|
CA372892257 rs1167860793 |
153 | V>E | No |
ClinGen gnomAD |
|
|
CA372892261 rs1417756401 |
153 | V>M | No |
ClinGen gnomAD |
|
|
CA372892250 rs1417750019 |
154 | V>L | No |
ClinGen TOPMed |
|
|
CA372892224 rs1197421247 |
156 | W>C | No |
ClinGen gnomAD |
|
|
CA188639479 rs755743755 |
156 | W>R | No |
ClinGen Ensembl |
|
|
rs752955060 CA4978584 |
157 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4978582 rs755944644 |
158 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs779346899 CA4978583 |
158 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA188639467 rs964537670 |
159 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs145028537 CA372892194 |
160 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145028537 CA4978580 |
160 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4978578 rs751460407 |
161 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751460407 CA4978579 |
161 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372892183 rs1279994852 |
161 | H>P | No |
ClinGen gnomAD |
|
|
rs1327800754 CA372892174 |
162 | V>I | No |
ClinGen TOPMed |
|
|
rs1430961318 CA372892163 |
163 | F>I | No |
ClinGen TOPMed |
|
| TCGA novel | 165 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775090729 CA4978575 |
165 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775090729 CA372892140 |
165 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA188639429 rs368052747 |
167 | P>T | No |
ClinGen Ensembl |
|
|
rs759206746 CA4978573 |
171 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4978571 rs200029811 |
173 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1174848181 CA372892067 |
175 | R>W | No |
ClinGen gnomAD |
|
|
rs1480161612 CA372892059 |
176 | H>R | No |
ClinGen gnomAD |
|
|
CA372892051 rs1430006046 |
177 | D>G | No |
ClinGen gnomAD |
|
|
CA4978569 rs773650202 |
180 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs772189910 CA4978568 |
180 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs748279972 CA4978567 |
182 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4978565 rs373660643 |
182 | K>R | No |
ClinGen ESP gnomAD |
|
|
CA4978563 rs755190245 |
183 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4978564 rs779261457 |
183 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1370786038 CA372891994 |
186 | D>A | No |
ClinGen gnomAD |
|
|
CA372891985 rs1447675326 |
187 | Q>R | No |
ClinGen TOPMed |
|
|
rs1192676542 CA372891965 |
190 | Q>E | No |
ClinGen TOPMed |
|
|
rs1278556444 CA372891958 |
191 | D>N | No |
ClinGen gnomAD |
|
|
rs757054548 CA4978560 |
192 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4978559 rs751486562 |
192 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4978556 rs756963209 |
194 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs757892909 CA4978557 |
194 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1476391343 CA372891910 |
195 | P>A | No |
ClinGen TOPMed |
|
|
CA4978555 rs200760731 |
196 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 197 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4978554 rs139108752 |
197 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4978553 rs776288155 |
198 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372891846 rs1239714529 |
201 | S>C | No |
ClinGen gnomAD |
|
|
CA188639308 rs980389860 |
202 | A>G | No |
ClinGen Ensembl |
|
|
rs1460871369 CA372891833 |
203 | R>G | No |
ClinGen gnomAD |
|
|
CA4978549 rs772511366 |
204 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1263669272 CA372891819 |
204 | A>T | No |
ClinGen gnomAD |
|
|
rs969925813 CA188639300 |
206 | A>G | No |
ClinGen Ensembl |
|
|
rs1314567560 CA372891801 |
206 | A>T | No |
ClinGen gnomAD |
|
|
CA372891741 rs1400787133 |
211 | A>V | No |
ClinGen TOPMed |
|
|
CA4978546 rs368436024 |
212 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA188639271 rs1024530641 |
214 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4978545 rs749468360 |
215 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 215 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372891698 rs1384246057 |
215 | N>T | No |
ClinGen gnomAD |
|
|
rs1305078739 CA372891692 |
216 | I>V | No |
ClinGen gnomAD |
|
|
CA372891670 rs1451762062 |
217 | A>D | No |
ClinGen gnomAD |
|
|
CA4978542 rs755332248 |
218 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4978543 rs755332248 |
218 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1421685755 CA372891635 |
220 | K>N | No |
ClinGen gnomAD |
|
|
rs777639059 CA4978541 |
220 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587506292 CA372891620 |
221 | D>E | No |
ClinGen Ensembl |
|
|
rs1293719447 CA372891631 |
221 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 221 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758266891 CA4978540 |
222 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978538 rs764678355 |
223 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs752664114 CA4978539 |
223 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA372891599 rs1242453431 |
224 | D>N | No |
ClinGen TOPMed |
|
|
rs754531851 CA4978537 |
225 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA372891564 rs1587506264 |
227 | P>L | No |
ClinGen Ensembl |
|
|
CA372891568 rs1183474331 |
227 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 228 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753497660 CA4978536 |
228 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs955756730 CA188639202 |
231 | Q>E | No |
ClinGen Ensembl |
|
|
CA372891496 rs1355480611 |
234 | N>I | No |
ClinGen gnomAD |
|
|
CA372891497 rs1355480611 |
234 | N>S | No |
ClinGen gnomAD |
|
|
CA372891448 rs1245754480 |
238 | Y>* | No |
ClinGen gnomAD |
|
|
CA372891429 rs1204699267 |
240 | D>G | No |
ClinGen TOPMed |
|
|
CA4978533 rs750693326 |
240 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1380970295 CA372891402 |
242 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4978531 rs762366117 |
249 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775016858 CA4978530 |
254 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA188639152 rs867438080 |
255 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 255 | V>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs192688167 CA188639140 |
256 | P>R | No |
ClinGen 1000Genomes |
|
|
CA4978527 rs530947222 |
260 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372891236 rs1166834052 |
260 | G>D | No |
ClinGen gnomAD |
|
|
CA4978528 rs530947222 COSM487501 |
260 | G>S | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA4978525 rs746109382 |
261 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA372891206 rs1563990399 |
263 | L>S | No |
ClinGen Ensembl |
|
| TCGA novel | 264 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777393519 CA4978524 |
265 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs771878131 CA4978523 |
266 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4978522 rs748055944 |
267 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1470186600 CA372891156 |
268 | Q>H | No |
ClinGen TOPMed |
|
|
CA372891141 rs1296832503 |
270 | S>R | No |
ClinGen gnomAD |
|
|
rs1489020264 CA372891129 |
271 | L>M | No |
ClinGen gnomAD |
|
|
CA188639097 rs866757740 |
272 | K>Q | No |
ClinGen Ensembl |
|
|
CA372891091 rs1436147375 |
274 | C>R | No |
ClinGen TOPMed |
|
|
CA372891086 rs1307484934 |
274 | C>Y | No |
ClinGen gnomAD |
|
|
CA4978516 rs139819261 |
276 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779628451 CA4978518 |
276 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 277 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162388796 CA372891064 |
277 | S>P | No |
ClinGen gnomAD |
|
|
CA4978514 rs762313027 |
280 | S>T | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA372891033 rs1336341784 |
281 | N>S | No |
ClinGen TOPMed |
|
|
CA372891021 rs752112690 |
283 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs752112690 CA4978513 |
283 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs764759183 CA4978512 |
284 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587506074 CA372891016 |
284 | R>H | No |
ClinGen Ensembl |
|
|
CA4978511 rs200682188 |
285 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1048422250 CA188639053 |
286 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 287 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4978509 rs376700400 |
287 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM277004 rs1563990348 CA372890991 |
289 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA4978508 rs759629337 |
290 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs114777314 CA4978506 |
291 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375333354 CA372890974 |
291 | I>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375333354 CA4978507 |
291 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs980056629 CA188639032 |
292 | V>A | No |
ClinGen Ensembl |
|
|
CA372890963 rs1197983542 |
293 | T>N | No |
ClinGen TOPMed |
|
|
rs1587506010 CA372890967 |
293 | T>P | No |
ClinGen Ensembl |
|
|
CA188639029 rs572706180 |
294 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 294 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194492930 CA372890946 |
296 | E>G | No |
ClinGen gnomAD |
|
|
CA372890942 rs1587505989 |
297 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 298 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1563990327 CA372890929 |
299 | T>A | No |
ClinGen Ensembl |
|
|
CA4978504 rs778807878 |
300 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1177344076 CA372890913 |
301 | M>I | No |
ClinGen TOPMed |
|
|
CA372890915 rs1260806021 |
301 | M>T | No |
ClinGen gnomAD |
|
|
CA4978502 rs373270178 |
303 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4978501 rs779387711 |
305 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 305 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372890875 rs1333094111 |
307 | N>H | No |
ClinGen gnomAD |
|
|
rs773376322 CA4978499 |
308 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 308 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372890854 rs1389491901 |
310 | A>T | No |
ClinGen gnomAD |
|
|
rs781062087 CA4978498 |
310 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553954901 CA4978496 |
311 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764560721 CA4978495 |
312 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA372890835 rs1478058402 |
313 | V>A | No |
ClinGen gnomAD |
|
|
rs377251932 CA4978493 |
313 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377251932 CA4978494 |
313 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4978491 rs776828625 |
315 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978490 rs776828625 |
315 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760899059 CA4978488 |
316 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs962760384 CA188638952 |
316 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA372890809 rs1445905665 |
318 | A>T | No |
ClinGen TOPMed |
|
|
CA4978487 rs559158560 |
318 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1587505907 CA372890793 |
320 | M>L | No |
ClinGen Ensembl |
|
|
rs768524319 CA4978486 |
320 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978485 rs61758807 |
321 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372890776 rs1276700194 |
322 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA372890752 rs1238530694 |
326 | D>H | No |
ClinGen gnomAD |
|
|
CA372890733 rs1375885724 |
328 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA188638929 rs1031422413 |
330 | V>I | No |
ClinGen gnomAD |
|
|
COSM1739548 rs1380559884 CA372890711 |
331 | N>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA4978480 rs756906507 |
332 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs148165014 CA4978483 |
332 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4978482 rs148165014 |
332 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756906507 CA4978481 |
332 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA372890687 rs1403641965 |
335 | M>L | No |
ClinGen gnomAD |
|
|
rs1156447635 CA372890678 |
336 | E>* | No |
ClinGen gnomAD |
|
|
rs746693598 CA4978479 |
336 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA372890668 rs1341680455 |
337 | E>D | No |
ClinGen gnomAD |
|
|
CA4978478 rs778236984 |
337 | E>Q | No |
ClinGen ExAC gnomAD |
|
| rs1252206036 | 337 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753114875 CA4978476 |
338 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1293503406 CA372890666 |
338 | D>N | No |
ClinGen gnomAD |
|
|
rs753114875 CA4978477 |
338 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA372890629 rs765840236 |
342 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197234218 CA372890599 |
347 | A>S | No |
ClinGen TOPMed |
|
|
CA4978474 rs754997667 |
347 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 348 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193786646 CA372890573 |
351 | L>V | No |
ClinGen TOPMed |
|
|
rs1288401991 CA372890568 |
352 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1288401991 CA372890569 |
352 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs766449685 CA4978472 |
353 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs997124608 CA188638869 |
354 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1448575888 CA372890551 |
355 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM4163945 CA4978471 rs78254900 |
356 | C>F | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4978468 rs762843335 |
357 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA4978469 rs762843335 |
357 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs773442600 CA4978470 |
357 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA4978467 rs775280468 |
358 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs78484427 CA4978465 |
360 | G>E | No |
ClinGen 1000Genomes ExAC |
|
|
CA188638781 rs1041252496 |
361 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4978462 rs746640376 |
365 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA372890491 rs1474098536 |
365 | P>S | No |
ClinGen gnomAD |
|
|
rs1192628838 CA372890482 |
366 | M>I | No |
ClinGen gnomAD |
|
|
CA372890487 rs1189450723 |
366 | M>V | No |
ClinGen gnomAD |
|
|
rs777522272 CA4978461 |
368 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1265660834 CA372890470 |
368 | K>R | No |
ClinGen gnomAD |
|
|
CA4978460 rs758686851 |
369 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs748603270 CA4978459 |
370 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462007815 CA372890459 |
370 | H>Y | No |
ClinGen TOPMed |
|
|
CA372890439 rs1365622882 |
372 | M>I | No |
ClinGen TOPMed |
|
|
rs779158569 CA4978458 |
373 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs796769765 CA372890429 |
374 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs796769765 CA188638750 |
374 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4978457 rs755444159 |
375 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754372087 CA4978456 |
375 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1217515053 CA372890411 |
376 | Q>H | No |
ClinGen gnomAD |
|
|
rs1340544421 CA372890406 |
377 | S>N | No |
ClinGen gnomAD |
|
|
rs780057217 CA4978455 |
377 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA4978454 rs144799861 |
378 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372890400 rs1402642473 |
378 | P>S | No |
ClinGen gnomAD |
|
|
rs529147352 CA4978452 |
381 | K>M | No |
ClinGen 1000Genomes ExAC |
|
|
rs761958664 CA4978451 |
382 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs761958664 CA372890369 |
382 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1418043357 CA372890366 |
383 | R>G | No |
ClinGen gnomAD |
|
|
CA4978450 rs149409404 COSM2777695 |
383 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1425800388 CA372890358 |
384 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA372890349 rs1197351614 |
385 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs75343172 CA4978449 |
388 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs75343172 CA372890335 |
388 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4978448 rs759501306 |
391 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs776759876 CA4978447 |
393 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256461837 CA372890302 |
393 | I>V | No |
ClinGen gnomAD |
|
|
rs1197870543 CA372890277 |
397 | C>S | No |
ClinGen gnomAD |
|
|
CA4978446 rs770536730 |
398 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA4978444 rs772727897 |
403 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs771697285 CA4978443 |
403 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs779294711 CA4978441 |
405 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs780575003 CA4978438 CA188638631 |
406 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978439 rs749771234 |
406 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 407 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756178382 CA4978437 |
408 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4978435 rs781140328 |
410 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA372890188 rs1587505550 |
410 | N>T | No |
ClinGen Ensembl |
|
|
CA372890179 rs1455412593 |
411 | S>C | No |
ClinGen TOPMed |
|
|
CA372890177 rs1398522233 |
412 | V>I | No |
ClinGen TOPMed |
|
|
rs1458205004 CA372890170 |
413 | L>V | No |
ClinGen gnomAD |
|
|
rs765060959 CA4978432 |
414 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs934244161 CA188638579 |
417 | Q>* | No |
ClinGen TOPMed |
|
|
rs1311226063 CA372890137 |
418 | D>H | No |
ClinGen TOPMed |
|
|
CA372890124 rs1319335939 |
419 | P>L | No |
ClinGen TOPMed |
|
|
rs1319335939 CA372890125 |
419 | P>R | No |
ClinGen TOPMed |
|
|
CA372890127 rs1311065675 |
419 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 420 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278926899 CA372890110 |
421 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA372890109 rs1278926899 |
421 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372890089 rs1587505481 |
423 | V>G | No |
ClinGen Ensembl |
|
|
rs753822820 CA4978430 |
425 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372890074 rs753822820 |
425 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA188638551 rs10118943 |
426 | A>T | No |
ClinGen Ensembl |
|
|
CA372890063 rs1371642647 |
426 | A>V | No |
ClinGen gnomAD |
|
|
rs1397669867 CA372890054 |
427 | A>V | No |
ClinGen gnomAD |
|
|
rs766483996 CA4978429 |
428 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA372890043 rs1563989986 |
429 | T>P | No |
ClinGen Ensembl |
|
|
CA4978428 rs760702047 |
429 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs771512708 CA4978426 |
432 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1485881994 CA372889997 |
434 | M>I | No |
ClinGen TOPMed |
|
|
CA4978425 rs761477124 |
434 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372889984 rs1178522098 |
436 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs773921765 CA4978424 |
439 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1157868270 CA372889933 |
442 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1159990598 CA372889925 |
443 | Q>E | No |
ClinGen TOPMed |
|
|
rs1440050739 CA372889922 |
443 | Q>R | No |
ClinGen gnomAD |
|
|
CA4978423 rs768975394 |
444 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749716100 CA4978422 |
444 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372889887 rs1376384710 |
448 | E>Q | No |
ClinGen TOPMed |
|
|
rs770222827 CA4978420 |
449 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284843430 CA372889874 |
450 | V>L | No |
ClinGen gnomAD |
|
|
CA372889875 rs1284843430 |
450 | V>M | No |
ClinGen gnomAD |
|
|
rs1224934881 CA372889861 |
452 | A>P | No |
ClinGen TOPMed |
|
|
rs767813685 CA188638508 |
452 | A>V | No |
ClinGen Ensembl |
|
|
CA4978417 rs201478375 |
456 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978416 rs747224335 |
456 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372889836 rs747224335 |
456 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs982840711 CA188638496 |
457 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs142383538 CA4978414 |
458 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1587505296 CA372889817 |
459 | E>V | No |
ClinGen Ensembl |
|
|
rs1304730762 CA372889808 |
460 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 460 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442781645 CA372889812 |
460 | N>Y | No |
ClinGen TOPMed |
|
|
CA4978413 rs368950037 |
461 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1235646137 CA372889799 |
462 | G>R | No |
ClinGen TOPMed |
|
|
CA4978411 rs138342092 |
464 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750349187 CA4978410 |
465 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978408 rs761267698 COSM1462662 |
465 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4978409 rs761267698 |
465 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372889775 rs1381861084 |
466 | V>M | No |
ClinGen gnomAD |
|
|
rs763791045 CA4978406 |
469 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs763791045 CA4978407 |
469 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA372889740 rs1423228246 |
471 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1423228246 CA372889738 |
471 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA188638427 rs147033435 |
474 | L>V | No |
ClinGen ESP TOPMed |
|
|
rs960907897 CA188638423 |
476 | I>V | No |
ClinGen TOPMed |
|
|
rs1183150714 CA372889697 |
478 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA372889698 rs1183150714 |
478 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1331274196 CA372889677 |
480 | D>E | No |
ClinGen TOPMed |
|
|
rs775796487 CA4978404 |
482 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1262062071 CA372889655 |
484 | S>T | No |
ClinGen gnomAD |
|
|
COSM1725543 CA372889643 rs1587505223 |
485 | L>F | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA372889639 rs1216801631 |
486 | L>P | No |
ClinGen gnomAD |
|
|
CA372889640 rs1216801631 |
486 | L>Q | No |
ClinGen gnomAD |
|
|
rs1375423090 CA372889642 |
486 | L>V | No |
ClinGen TOPMed |
|
|
CA372889630 rs770169357 |
488 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978402 rs746367122 |
489 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 492 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4978399 CA372889593 rs747116332 |
493 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4978400 rs771041141 |
493 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs777046037 CA4978401 |
493 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA372889591 rs371208661 |
494 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4978398 rs371208661 |
494 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372889554 rs1276198651 |
499 | S>C | No |
ClinGen TOPMed |
|
|
rs1173817918 CA372889555 |
499 | S>P | No |
ClinGen gnomAD |
|
|
CA4978395 rs779943569 |
500 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA4978396 rs201021288 COSM3395829 |
500 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1280160948 CA372889532 |
503 | I>F | No |
ClinGen Ensembl |
|
|
CA372889517 rs1195643608 |
505 | L>H | No |
ClinGen TOPMed |
|
|
CA4978392 rs767418443 |
505 | L>V | Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 509 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477797716 CA372889491 |
509 | I>V | No |
ClinGen TOPMed |
|
|
CA372889482 rs201025756 |
510 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4978389 rs201025756 |
510 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4978390 COSM1109504 rs184802439 |
510 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs140782366 CA4978387 |
513 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765559083 CA4978386 |
513 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs140782366 CA4978388 |
513 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 520 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4978385 rs759886590 |
521 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA372889409 rs1278977859 |
522 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA188638337 rs774367371 |
523 | T>A | No |
ClinGen Ensembl |
|
|
rs201915719 CA188638333 |
523 | T>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs556031743 CA4978383 |
524 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747556793 CA4978382 |
525 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 526 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748357639 CA4978379 |
528 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768635546 CA188638321 |
529 | D>V | No |
ClinGen Ensembl |
|
|
CA188638318 rs867711365 |
530 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs779314498 COSM754398 CA4978378 |
530 | T>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs779314498 CA372889362 |
530 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978377 rs537049977 |
531 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745706300 CA372889354 |
532 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745706300 CA4978376 |
532 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757105419 CA4978374 |
534 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs751522706 CA4978373 |
535 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA372889328 rs1290618580 |
535 | F>Y | No |
ClinGen TOPMed |
|
|
rs374051595 CA4978372 |
536 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372889312 rs1259245635 |
538 | Y>D | No |
ClinGen gnomAD |
|
|
CA372889302 rs1244120728 |
539 | Y>C | No |
ClinGen TOPMed |
|
|
CA188638270 rs888464596 |
540 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1234166401 CA372889287 |
541 | I>M | No |
ClinGen gnomAD |
|
|
rs764855868 CA4978369 |
541 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752343257 CA4978370 |
541 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs759242336 CA4978368 |
545 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs766796475 CA4978366 |
547 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569758605 CA4978367 |
547 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1448391183 CA372889243 |
548 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1399350496 CA372889230 |
550 | V>F | No |
ClinGen gnomAD |
|
|
CA372889226 rs761036875 |
551 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs761036875 CA4978365 |
551 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4978364 rs773904931 |
552 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404247317 CA372889208 |
554 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1404247317 CA372889207 |
554 | V>L | No |
ClinGen TOPMed |
|
|
CA372889198 rs1439422564 |
555 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 557 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372889182 rs1400361905 |
557 | E>G | No |
ClinGen TOPMed |
|
|
rs1346660014 CA372889186 |
557 | E>K | No |
ClinGen TOPMed |
|
|
CA372889176 rs1239356761 |
558 | L>F | No |
ClinGen gnomAD |
|
|
CA372889178 rs1239356761 |
558 | L>I | No |
ClinGen gnomAD |
|
|
rs1563989577 CA372889156 |
561 | L>Q | No |
ClinGen Ensembl |
|
|
CA372889150 rs1277375700 |
562 | R>K | No |
ClinGen TOPMed |
|
|
CA372889143 rs774697863 |
563 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978361 rs774697863 |
563 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 564 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4978360 rs551446640 |
564 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA188638231 rs192600939 |
565 | T>S | No |
ClinGen 1000Genomes |
|
|
rs774412205 CA4978358 |
566 | I>* | No |
ClinGen ExAC |
|
|
rs41298208 CA4978357 |
566 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4978355 rs199515044 |
566 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs41298208 CA4978359 |
566 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3433189 rs777758307 CA4978354 |
567 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs777758307 CA372889125 |
567 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587504806 CA372889108 |
569 | I>F | No |
ClinGen Ensembl |
|
|
rs752145112 CA4978352 |
571 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1216205657 CA372889084 |
572 | I>T | No |
ClinGen TOPMed |
|
|
rs1309890581 CA372889088 |
572 | I>V | No |
ClinGen gnomAD |
|
|
rs754548629 CA4978351 |
573 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754548629 CA4978350 |
573 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324061252 CA372889075 |
574 | L>F | No |
ClinGen Ensembl |
|
|
rs753548947 CA4978349 |
575 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1332999693 CA372889062 |
576 | V>G | No |
ClinGen gnomAD |
|
|
rs766628368 CA4978348 |
576 | V>I | No |
ClinGen ExAC TOPMed |
|
|
rs1359664640 COSM1109503 CA372889058 |
577 | G>E | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM1462661 rs1563989494 CA372889043 |
579 | E>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA372889037 rs1158027478 |
580 | K>E | No |
ClinGen gnomAD |
|
|
rs750960958 CA372889035 |
580 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750960958 CA4978346 |
580 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295923900 COSM1109502 CA372889027 |
581 | F>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA372889032 rs1161004794 |
581 | F>I | No |
ClinGen TOPMed |
|
|
rs768192487 CA4978345 |
583 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1439113803 CA372889011 |
583 | Q>R | No |
ClinGen gnomAD |
|
|
CA4978343 rs774226113 CA372889003 |
584 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA4978344 rs61758805 |
584 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372889001 rs1297212650 |
585 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs796355872 CA188638137 |
585 | A>V | No |
ClinGen Ensembl |
|
|
CA372888992 rs1358313523 |
586 | S>L | No |
ClinGen TOPMed |
|
|
CA188638134 rs59308818 |
588 | V>E | No |
ClinGen Ensembl |
|
|
CA4978342 rs768806245 |
588 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA372888974 rs1261341251 |
589 | M>I | No |
ClinGen gnomAD |
|
|
rs1444154306 CA372888977 |
589 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs763066948 CA372888979 |
589 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763066948 CA4978341 |
589 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA188638129 rs142664485 |
590 | Q>E | No |
ClinGen ESP TOPMed |
|
|
rs1487846469 CA372888950 |
593 | L>W | No |
ClinGen gnomAD |
|
|
CA4978338 rs773004649 |
595 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs773004649 CA4978337 |
595 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs771931683 CA372888927 |
596 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372888933 rs1206667053 |
596 | Q>K | No |
ClinGen gnomAD |
|
|
rs1283500636 CA372888922 |
597 | S>* | No |
ClinGen gnomAD |
|
|
CA372888918 rs1239624361 |
598 | D>H | No |
ClinGen TOPMed |
|
|
rs748117172 CA4978335 |
600 | N>K | No |
ClinGen ExAC |
|
|
CA4978333 rs199998472 |
601 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA188638087 rs375643670 |
601 | N>S | No |
ClinGen ESP TOPMed |
|
|
CA372888888 rs1419910504 |
602 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754563960 CA4978332 |
602 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563989389 CA372888875 |
604 | D>N | No |
ClinGen Ensembl |
|
|
CA372888844 rs1441236006 |
608 | Q>E | No |
ClinGen TOPMed |
|
|
rs748860062 CA4978331 |
608 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1399078170 CA372888835 |
609 | T>I | No |
ClinGen gnomAD |
|
|
rs779821505 CA4978330 |
610 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563989373 CA585804422 |
611 | Y>* | No |
ClinGen Ensembl |
|
|
CA372888813 rs1164302189 |
612 | M>I | No |
ClinGen gnomAD |
|
|
rs1390675036 CA372888817 |
612 | M>V | No |
ClinGen gnomAD |
|
|
CA188638069 rs200345728 |
613 | V>F | No |
ClinGen Ensembl |
|
|
rs780774904 CA188638064 |
616 | W>C | No |
ClinGen gnomAD |
|
|
rs756530353 CA4978329 |
616 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs750755129 CA4978328 |
619 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs771383259 CA188638060 |
620 | C>R | No |
ClinGen Ensembl |
|
|
rs1265562924 CA372888762 |
620 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 622 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449618370 CA372888746 |
622 | I>T | No |
ClinGen gnomAD |
|
|
rs1289072400 CA372888741 |
623 | L>I | No |
ClinGen gnomAD |
|
|
CA372888743 rs1289072400 |
623 | L>V | No |
ClinGen gnomAD |
|
|
CA372888735 rs1336840216 |
624 | G>* | No |
ClinGen gnomAD |
|
|
rs1378162480 CA372888727 |
625 | K>R | No |
ClinGen TOPMed |
|
|
rs1172983947 CA372888702 |
628 | Q>R | No |
ClinGen TOPMed |
|
|
rs1217453027 CA372888698 |
629 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1394168148 CA372888694 |
629 | Q>P | No |
ClinGen TOPMed |
|
|
rs764052330 CA4978324 |
630 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1340796382 CA372888688 |
630 | Y>S | No |
ClinGen gnomAD |
|
|
CA188638032 rs956655534 |
632 | P>L | No |
ClinGen TOPMed |
|
|
CA4978323 rs763163852 |
633 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4978321 rs759758598 COSM3848642 |
636 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4978320 rs759758598 |
636 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1463528731 CA372888645 |
637 | P>L | No |
ClinGen gnomAD |
|
|
rs772953470 CA4978319 |
638 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170109752 CA372888624 |
641 | T>A | No |
ClinGen gnomAD |
|
|
CA372888620 rs1466183738 |
641 | T>S | No |
ClinGen gnomAD |
|
|
rs771878219 CA4978318 |
642 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs774384760 CA4978316 |
644 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978317 rs774384760 |
644 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476928722 CA372888600 |
645 | K>T | No |
ClinGen gnomAD |
|
|
rs746745135 CA372888592 |
646 | P>L | No |
ClinGen gnomAD |
|
|
rs746745135 CA188637999 |
646 | P>R | No |
ClinGen gnomAD |
|
|
rs768046449 CA4978315 |
646 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4978314 rs748885611 |
647 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA4978313 rs779440933 |
648 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372888581 rs779440933 |
648 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369863595 CA4978312 |
649 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4978311 rs369863595 |
649 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4978310 rs781675987 |
650 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM1109500 CA4978307 rs145544391 |
652 | D>E | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1343835081 CA372888555 |
653 | T>A | No |
ClinGen gnomAD |
|
|
CA372888556 rs1343835081 |
653 | T>P | No |
ClinGen gnomAD |
|
|
CA372888542 rs1259339957 |
655 | D>N | No |
ClinGen TOPMed |
|
|
rs752755741 CA4978305 |
655 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA4978304 rs765333948 |
656 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA188637938 rs900009107 |
658 | N>D | No |
ClinGen TOPMed |
|
|
CA4978303 rs759707261 |
659 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4978302 rs543745779 |
661 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372888495 rs1297464910 |
661 | D>G | No |
ClinGen gnomAD |
|
|
rs61758806 CA372888492 |
662 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4978300 rs61758806 |
662 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201004576 CA188637902 |
663 | D>G | No |
ClinGen 1000Genomes |
|
|
CA4978297 rs200173457 |
664 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4978299 rs371991747 |
664 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200173457 CA4978298 |
664 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA188637890 rs201900439 |
672 | D>G | No |
ClinGen 1000Genomes |
|
|
rs769448879 CA4978295 |
673 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372888409 rs1368085808 |
674 | Q>E | No |
ClinGen gnomAD |
|
|
CA188637867 rs1047049878 |
675 | S>N | No |
ClinGen TOPMed |
|
|
CA372888386 rs1177858339 |
677 | G>R | No |
ClinGen gnomAD |
|
|
rs1457833011 CA372888384 |
677 | G>V | No |
ClinGen gnomAD |
|
|
CA4978293 rs781060213 |
680 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372888358 rs1207407544 |
681 | S>* | No |
ClinGen gnomAD |
|
|
rs771413652 CA4978292 |
682 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA372888349 rs1425871668 |
683 | L>V | No |
ClinGen gnomAD |
|
|
CA372888339 rs1278858743 |
684 | E>V | No |
ClinGen gnomAD |
|
|
rs1258693563 CA372888308 |
689 | A>T | No |
ClinGen gnomAD |
|
|
rs758899256 CA4978289 |
689 | A>V | No |
ClinGen ExAC |
|
|
rs753168268 CA4978288 |
690 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA372888304 rs1351908771 |
690 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1376165594 CA372888289 |
692 | M>V | No |
ClinGen gnomAD |
|
|
CA372888276 rs1193491680 |
693 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA372888273 rs1301214127 |
694 | V>L | No |
ClinGen gnomAD |
|
|
CA372888249 rs1300850044 |
697 | A>G | No |
ClinGen TOPMed |
|
|
rs1436360937 CA372888241 |
698 | K>N | No |
ClinGen gnomAD |
|
|
CA372888243 rs766693347 |
698 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978284 rs766693347 |
698 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157812049 CA372888234 |
699 | E>D | No |
ClinGen gnomAD |
|
|
rs760819908 CA4978283 |
699 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057231643 CA188637845 |
702 | E>G | No |
ClinGen TOPMed |
|
|
rs368618247 CA188637842 |
704 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 705 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372888180 rs1410026764 |
707 | Y>C | No |
ClinGen gnomAD |
|
|
CA372888149 rs1472148807 |
711 | V>A | No |
ClinGen gnomAD |
|
|
rs756638354 CA4978282 |
712 | V>M | No |
ClinGen ExAC |
|
|
CA4978279 rs775612044 |
714 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA372888124 rs1487098210 |
715 | M>I | No |
ClinGen gnomAD |
|
|
CA188637826 rs201464363 |
716 | V>F | No |
ClinGen gnomAD |
|
|
CA372888108 rs1355085427 |
718 | L>S | No |
ClinGen gnomAD |
|
|
rs769428360 CA4978278 |
719 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs759179325 CA4978277 |
720 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs776299373 CA4978276 |
721 | F>L | No |
ClinGen ExAC |
|
|
rs750840434 CA4978275 |
722 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978274 rs746672824 |
724 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs778152716 CA4978273 |
724 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978272 rs200224813 |
726 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372888048 rs1360127332 |
727 | V>I | No |
ClinGen gnomAD |
|
|
rs767636427 COSM1109498 CA188637788 |
728 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA188637784 rs761791393 |
728 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1195644512 CA372887927 |
729 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 730 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4978271 rs748620407 |
732 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 733 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372887894 rs1168479589 |
734 | S>A | No |
ClinGen TOPMed |
|
|
rs1458533761 CA372887890 |
735 | M>L | No |
ClinGen TOPMed |
|
|
rs1293141416 CA372887880 |
736 | P>A | No |
ClinGen TOPMed |
|
|
rs1322034169 CA372887877 |
736 | P>R | No |
ClinGen gnomAD |
|
|
rs1388902472 CA372887860 |
739 | L>V | No |
ClinGen TOPMed |
|
|
rs753857687 CA4978268 |
740 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA4978266 rs750629139 |
741 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA4978265 rs750629139 |
741 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs920108141 CA188637752 |
742 | A>S | No |
ClinGen Ensembl |
|
|
rs1187495244 CA372887839 |
742 | A>V | No |
ClinGen gnomAD |
|
|
rs1487030977 CA372887828 |
744 | I>N | No |
ClinGen gnomAD |
|
|
rs191039250 CA4978264 |
745 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4978261 rs765212611 |
745 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978262 rs765212611 |
745 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765212611 CA4978263 |
745 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM609135 CA4978260 rs202193240 |
746 | G>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA372887812 rs1340180379 |
747 | P>L | No |
ClinGen gnomAD |
|
|
rs1216841218 CA372887815 |
747 | P>S | No |
ClinGen gnomAD |
|
|
rs765830429 CA188637717 |
749 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774688843 CA188637727 |
749 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4978257 rs553843673 |
750 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772781444 CA4978256 |
753 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA372887763 rs1244958128 |
754 | W>C | No |
ClinGen TOPMed |
|
| TCGA novel | 755 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4978255 rs143981794 |
757 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372887725 rs1422513008 |
759 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 759 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748568963 CA4978254 |
759 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA372887721 rs1218382017 |
760 | P>A | No |
ClinGen TOPMed |
|
|
rs769083892 CA372887677 |
764 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs371836928 CA4978253 |
764 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769083892 CA4978252 |
764 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA372887673 rs749821590 |
765 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978251 rs749821590 |
765 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780129060 CA4978250 |
766 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756194182 CA4978249 |
767 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469337335 CA372887657 |
767 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA188637686 rs756194182 |
767 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978248 rs746101095 |
769 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317327531 CA372887619 |
771 | T>A | No |
ClinGen gnomAD |
|
|
CA372887620 rs1317327531 |
771 | T>P | No |
ClinGen gnomAD |
|
|
rs1229810103 CA372887596 |
773 | V>L | No |
ClinGen gnomAD |
|
|
CA4978244 rs765155594 |
777 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA4978245 rs765155594 |
777 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1371674447 CA372887545 |
778 | M>T | No |
ClinGen gnomAD |
|
|
rs765883414 CA4978241 |
780 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs765883414 COSM3433186 CA4978242 |
780 | S>Y | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 781 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4978240 rs760166964 |
782 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs772905285 CA4978239 |
783 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA372887479 rs1161637044 |
785 | I>L | No |
ClinGen gnomAD |
|
|
CA372887449 rs1463261627 |
788 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4978238 rs767019518 |
790 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA372887394 rs1397456969 |
792 | C>F | No |
ClinGen gnomAD |
|
|
rs1305097786 CA372887387 |
793 | L>V | No |
ClinGen TOPMed |
|
|
CA372887374 rs1380592324 |
794 | N>I | No |
ClinGen TOPMed |
|
|
rs1396079697 CA372887367 |
795 | D>H | No |
ClinGen TOPMed |
|
|
rs1177240393 CA372887336 |
797 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA372887323 rs1251422464 |
799 | E>* | No |
ClinGen gnomAD |
|
|
CA4978235 rs769026601 |
800 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA372887311 rs769026601 |
800 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA372887306 rs1482430301 |
800 | E>V | No |
ClinGen gnomAD |
|
|
rs374546061 CA188637629 |
802 | G>* | No |
ClinGen Ensembl |
|
|
CA372887273 rs749769467 |
803 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978234 rs749769467 |
803 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762881183 CA188637615 |
804 | I>T | No |
ClinGen TOPMed |
|
|
CA372887252 rs1305554836 |
806 | K>Q | No |
ClinGen gnomAD |
|
|
CA372887201 rs1237943163 |
811 | G>R | No |
ClinGen gnomAD |
|
|
CA4978233 rs775899669 |
815 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs769906890 CA4978232 |
815 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 817 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372887104 rs1286364753 |
820 | Q>E | No |
ClinGen TOPMed |
|
|
rs745882029 CA4978231 |
821 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4978230 rs745352691 |
824 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978229 rs757518200 |
825 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA372887033 rs1157216563 |
826 | E>G | No |
ClinGen gnomAD |
|
|
CA372887022 rs1214235812 |
827 | N>S | No |
ClinGen TOPMed |
|
|
rs1563988784 CA372887025 |
827 | N>Y | No |
ClinGen Ensembl |
|
|
rs976544886 CA188637606 |
829 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA372886986 rs1483513410 |
830 | Q>H | No |
ClinGen TOPMed |
|
|
rs747257765 CA4978228 |
831 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs778829981 CA4978227 |
834 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778829981 CA188637595 |
834 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 836 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201088423 CA188637585 |
836 | L>V | No |
ClinGen Ensembl |
|
|
CA372886915 rs1450500238 |
838 | D>N | No |
ClinGen gnomAD |
|
|
CA372886811 rs1211797188 |
847 | L>P | No |
ClinGen gnomAD |
|
|
rs1441626423 CA372886803 |
848 | T>S | No |
ClinGen TOPMed |
|
|
rs779911838 CA4978224 |
849 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA188637567 rs756089965 |
849 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 849 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4978223 rs756089965 |
849 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 852 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4978221 rs767084856 |
852 | D>H | No |
ClinGen ExAC |
|
|
rs1468632205 CA372886754 |
853 | I>N | No |
ClinGen gnomAD |
|
|
CA4978220 rs139005279 |
853 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 854 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372886728 rs1280015973 |
855 | H>Q | No |
ClinGen gnomAD |
|
|
rs1257107203 CA372886701 |
858 | F>C | No |
ClinGen gnomAD |
|
|
CA188637548 rs994549009 |
860 | T>A | No |
ClinGen TOPMed |
|
|
CA4978218 rs764408824 |
860 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372886675 rs1319794110 |
861 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA188637492 rs574224935 |
861 | Y>H | No |
ClinGen 1000Genomes |
|
|
CA372886636 rs1415078256 COSM1109495 |
864 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 866 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA188637479 rs1001634296 |
867 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4978216 rs187892114 |
867 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372886611 rs1001634296 |
867 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs760124713 CA4978214 |
868 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs776524425 CA4978213 |
870 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA372886557 rs1209253264 |
873 | L>I | No |
ClinGen TOPMed |
|
|
CA372886490 rs1179391713 |
880 | I>V | No |
ClinGen TOPMed |
|
|
rs1206760373 CA372886449 |
884 | R>G | No |
ClinGen gnomAD |
|
|
CA372886444 rs1563988665 |
884 | R>M | No |
ClinGen Ensembl |
|
|
rs1354149198 CA372886441 |
884 | R>S | No |
ClinGen gnomAD |
|
|
CA372886445 rs1563988665 |
884 | R>T | No |
ClinGen Ensembl |
|
|
CA372886436 rs1563988654 |
885 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 895 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4978203 rs780654827 |
895 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1563988628 CA372886280 |
899 | I>V | No |
ClinGen Ensembl |
|
|
rs147298129 CA4978201 |
900 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763680958 CA4978200 |
902 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1432975720 CA372886212 |
905 | P>R | No |
ClinGen TOPMed |
|
|
CA4978199 rs371896002 |
906 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1463032938 CA372886180 |
909 | K>T | No |
ClinGen gnomAD |
|
|
CA4978198 rs752967790 |
910 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4978195 rs143934145 |
915 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776430811 COSM1462658 CA188637314 |
915 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs771133705 CA4978194 |
918 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA372886115 rs1398947215 |
918 | M>R | No |
ClinGen TOPMed |
|
|
rs771133705 CA372886117 |
918 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1336215194 CA372886087 |
922 | M>I | No |
ClinGen gnomAD |
|
|
rs772350119 CA4978191 |
922 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533489271 CA4978192 |
922 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978190 rs748429642 |
923 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4978189 rs779660448 |
923 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4978188 rs769679019 |
924 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA372886077 rs1454366211 |
924 | D>V | No |
ClinGen gnomAD |
|
|
CA4978187 rs138377555 |
926 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1231494822 CA372886043 |
929 | V>F | No |
ClinGen gnomAD |
|
|
CA372886020 rs1370934952 |
932 | A>G | No |
ClinGen gnomAD |
|
|
rs1199230348 CA372886014 |
933 | A>G | No |
ClinGen TOPMed |
|
|
rs746451477 CA4978183 |
942 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs746451477 CA372885940 |
942 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1476897536 CA372885918 |
944 | G>R | No |
ClinGen gnomAD |
|
|
rs1194125310 CA372885881 |
947 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA372885870 rs1247582588 |
948 | Y>* | No |
ClinGen TOPMed |
|
|
CA4978182 COSM179351 rs147043824 |
949 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs370397948 COSM1109492 CA4978181 |
949 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4978180 rs148935008 |
950 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372885847 rs1342768555 |
951 | L>S | No |
ClinGen gnomAD |
|
|
CA372885825 rs1274614317 |
953 | S>A | No |
ClinGen gnomAD |
|
|
CA372885810 rs1347526669 |
954 | E>V | No |
ClinGen gnomAD |
|
|
rs138687618 CA4978178 |
956 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA188637225 rs138687618 |
956 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4978176 rs766932834 |
958 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs754385949 CA4978177 |
958 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA372885769 rs1563988471 |
959 | L>P | No |
ClinGen Ensembl |
|
|
CA372885765 rs1170608321 |
960 | V>I | No |
ClinGen TOPMed |
|
|
CA372885750 rs1442961846 |
961 | K>T | No |
ClinGen gnomAD |
|
|
CA4978174 rs773381816 |
963 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568285323 CA4978173 |
965 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774674307 CA4978171 |
966 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs774674307 CA188637192 |
966 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA372885686 rs1455565047 |
968 | S>T | No |
ClinGen gnomAD |
|
|
CA372885680 rs1405676859 |
968 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
COSM252766 CA372885659 rs1470160165 |
970 | T>N | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1563988422 CA372885653 |
971 | K>E | No |
ClinGen Ensembl |
|
|
rs1485132959 CA372885631 |
972 | K>N | No |
ClinGen gnomAD |
|
|
CA372885621 rs1563988411 |
973 | N>I | No |
ClinGen Ensembl |
|
| rs746880803 | 973 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746880803 | 973 | N>M | Variant assessed as Somatic; 0.000142 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213427034 CA372885611 |
974 | V>A | No |
ClinGen gnomAD |
|
|
CA4978166 rs776417894 |
974 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4978165 rs770817391 |
975 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746972114 CA4978164 |
975 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA372885607 rs770817391 |
975 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230144861 CA372885596 |
976 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 978 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777243603 CA4978163 |
981 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA372885518 rs1402843105 |
984 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1414471843 CA372885521 |
984 | I>V | No |
ClinGen gnomAD |
|
|
CA4978160 rs778688299 |
989 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372885470 rs1436304660 |
989 | K>Q | No |
ClinGen gnomAD |
|
|
CA188637100 rs777445786 |
992 | P>S | No |
ClinGen Ensembl |
|
|
CA4978159 rs754602052 |
993 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1400792571 CA372885438 |
993 | N>S | No |
ClinGen gnomAD |
|
|
rs754185611 CA4978158 |
994 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474698735 CA372885432 |
994 | C>Y | No |
ClinGen gnomAD |
|
| rs777752468 | 995 | V>K | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372885403 rs1329953988 |
998 | D>G | No |
ClinGen gnomAD |
|
|
rs1485060009 CA372885406 |
998 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1193570928 CA372885392 |
999 | E>D | No |
ClinGen TOPMed |
|
|
rs766877839 CA4978156 |
1002 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs756636728 CA4978155 |
1003 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA372885364 rs1319252261 |
1004 | W>* | No |
ClinGen gnomAD |
|
|
rs368154344 CA4978154 |
1005 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1043191740 CA188637057 |
1007 | W>* | No |
ClinGen TOPMed |
|
|
rs531662966 CA4978150 |
1009 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774422403 CA4978151 |
1009 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs564392776 CA4978149 |
1012 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA188637020 rs1010716208 |
1015 | E>K | No |
ClinGen TOPMed |
|
|
rs746921819 CA4978146 |
1018 | I>T | No |
ClinGen ExAC |
|
|
CA372885263 rs1161301816 |
1019 | Q>K | No |
ClinGen TOPMed |
|
|
rs773204709 CA4978145 |
1019 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA4978144 rs771472259 CA372885247 |
1021 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs747638472 CA4978143 |
1024 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA372885208 rs1400459440 |
1027 | L>V | No |
ClinGen TOPMed |
|
|
rs778289107 CA4978142 |
1028 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs186485944 CA188636994 |
1030 | S>N | No |
ClinGen 1000Genomes |
|
|
CA372885189 rs1297495642 |
1030 | S>R | No |
ClinGen TOPMed |
|
|
CA372885183 rs1563988211 |
1031 | N>Y | No |
ClinGen Ensembl |
|
|
CA372885174 rs1324654903 |
1032 | H>Y | No |
ClinGen TOPMed |
|
|
CA4978141 rs768311562 |
1034 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372885131 rs527289388 |
1039 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527289388 CA4978139 |
1039 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4978137 rs750960934 |
1042 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243966173 CA372885103 |
1043 | L>I | No |
ClinGen TOPMed |
|
|
CA372885095 rs1587502699 |
1044 | P>S | No |
ClinGen Ensembl |
|
|
rs1275293947 CA372885081 CA372885082 |
1046 | I>L | No |
ClinGen gnomAD |
|
|
rs1563988182 CA372885075 |
1047 | I>V | No |
ClinGen Ensembl |
|
|
CA372885065 rs1354847434 |
1048 | S>T | No |
ClinGen TOPMed |
|
|
rs757716022 CA4978135 |
1049 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4978134 rs751619804 |
1050 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1052 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA188636945 rs199594603 |
1052 | E>G | No |
ClinGen 1000Genomes |
|
| TCGA novel | 1053 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA188636923 rs1052309526 |
1054 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs200580196 CA188636922 |
1056 | N>S | No |
ClinGen 1000Genomes |
|
|
CA372885009 rs1394657522 |
1057 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1394657522 CA372885008 |
1057 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA372884994 rs1327326463 |
1059 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372884982 rs1563988135 |
1060 | N>K | No |
ClinGen Ensembl |
|
|
rs371185956 CA4978129 |
1061 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371185956 CA4978130 |
1061 | Y>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs760525031 CA4978128 |
1062 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771981526 CA4978126 |
1064 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs771981526 CA372884958 |
1064 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1255030790 CA372884952 |
1065 | C>R | No |
ClinGen gnomAD |
|
|
CA372884929 rs1194119089 |
1068 | R>C | No |
ClinGen gnomAD |
|
|
CA372884927 rs1480457313 |
1068 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1440522835 CA372884917 |
1070 | A>D | No |
ClinGen gnomAD |
|
|
CA372884913 rs1204994563 |
1071 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA372884914 rs1204994563 |
1071 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs748913671 CA372884900 CA188636860 |
1073 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748913671 CA4978122 |
1073 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372884894 rs1233563545 |
1074 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs143367425 CA4978121 |
1074 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs770269209 CA4978120 |
1075 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs910944410 CA188636840 |
1076 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs62557309 CA188636838 |
1077 | Q>L | No |
ClinGen TOPMed |
|
|
CA372884875 rs62557309 |
1077 | Q>R | No |
ClinGen TOPMed |
|
|
CA4978118 rs746176018 |
1079 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4978117 rs781413061 |
1080 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4978116 rs757736689 |
1083 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA4978114 rs777879860 |
1089 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs752905606 CA4978112 |
1091 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA4978111 rs765389002 |
1091 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA188636749 rs983856476 |
1094 | Q>H | No |
ClinGen TOPMed |
|
|
CA4978109 rs750189586 |
1095 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs767234578 CA4978108 |
1099 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460479213 CA372884717 |
1100 | E>* | No |
ClinGen TOPMed |
|
|
CA372884696 rs1209867965 |
1103 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1104 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with O60518
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| nuclear import signal receptor activity | Combining with a nuclear import signal (NIS) on a cargo to be transported, to mediate transport of the cargo through the nuclear pore, from the cytoplasm to the nuclear lumen. The cargo can be either a RNA or a protein. |
| nuclear localization sequence binding | Binding to a nuclear localization sequence, a specific peptide sequence that acts as a signal to localize the protein within the nucleus. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| protein import into nucleus | The directed movement of a protein from the cytoplasm to the nucleus. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAATASAGVP | ATVSEKQEFY | QLLKNLINPS | CMVRRQAEEI | YENIPGLCKT | TFLLDAVRNR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RAGYEVRQMA | AALLRRLLSS | GFEEVYPNLP | ADVQRDVKIE | LILAVKLETH | ASMRKKLCDI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FAVLARNLID | EDGTNHWPEG | LKFLIDSIYS | KNVVLWEVAL | HVFWHFPGIF | GTQERHDLDI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IKRLLDQCIQ | DQEHPAIRTL | SARAAAAFVL | ANENNIALFK | DFADLLPGIL | QAVNDSCYQD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DDSVLESLVE | IADTVPKYLG | PYLEDTLQLS | LKLCGDSRLS | NLQRQLALEV | IVTLSETATP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MLKKHTNIIA | QAVPHILAMM | VDLQDDEDWV | NADEMEEDDF | DSNAVAAESA | LDRLACGLGG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KVVLPMTKEH | IMQMLQSPDW | KYRHAGLMAL | SAIGEGCHQQ | MESILDETVN | SVLLFLQDPH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PRVRAAACTT | LGQMATDFAP | NFQKKFHETV | IAALLRTMEN | QGNQRVQSHA | ASALIIFIED |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CPKSLLVLYV | DSMVKNLHSV | LVIKLQELIR | NGTKLALEQL | VTTIASVADT | IEEKFVPYYD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IFMPSLKHIV | ELAVQKELKL | LRGKTIECIS | HIGLAVGKEK | FMQDASNVMQ | LLLKTQSDLN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NMEDDDPQTS | YMVSAWARMC | KILGKDFQQY | LPLVIEPLIK | TASAKPDVAL | LDTQDVENMS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DDDGWQFVNL | GDQQSFGIKT | SGLEAKATAC | QMLVYYAKEL | REGFVEYTEQ | VVKLMVPLLK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FYFHDNVRVA | AAESMPFLLE | CARIRGPEYL | AQMWQFICDP | LIKAIGTEPD | TDVLSEIMNS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| FAKSIEVMGD | GCLNDEHLEE | LGGILKAKLE | GHFKNQELRQ | VKRQEENYDQ | QVEMSLQDED |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ECDVYILTKV | SDILHSLFST | YKEKILPWFE | QLLPLIVNLI | CSSRPWPDRQ | WGLCIFDDII |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EHCSPTSFKY | VEYFRWPMLL | NMRDNNPEVR | QAAAYGLGVM | AQFGGDDYRS | LCSEAVPLLV |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| KVIKCANSKT | KKNVIATENC | ISAIGKILKF | KPNCVNVDEV | LPHWLSWLPL | HEDKEEAIQT |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LSFLCDLIES | NHPVVIGPNN | SNLPKIISII | AEGKINETIN | YEDPCAKRLA | NVVRQVQTSE |
| 1090 | 1100 | ||||
| DLWLECVSQL | DDEQQEALQE | LLNFA |