Q5JRC9
PR
Gene name |
FAM47A |
Protein name |
Protein FAM47A |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:158724 |
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 Q5JRC9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5JRC9-F1 | Predicted | AlphaFoldDB |
640 variants for Q5JRC9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001252483 rs1922489081 |
174 | E>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001252484 CA10380608 rs201672251 |
250 | G>R | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10380392 rs191524414 COSM1120740 RCV002570512 RCV001252482 |
569 | F>L | Intellectual disability endometrium Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1284969370 CA412680462 |
4 | Q>H | No |
ClinGen gnomAD |
|
|
rs1350445332 CA412680469 |
4 | Q>K | No |
ClinGen gnomAD |
|
|
rs1450522705 CA412680459 |
5 | R>K | No |
ClinGen gnomAD |
|
|
rs1391695670 CA412680455 |
5 | R>S | No |
ClinGen gnomAD |
|
|
rs773961885 CA10380730 |
6 | L>P | No |
ClinGen ExAC |
|
|
rs765925816 CA10380729 |
7 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA10380728 rs762440745 |
9 | W>R | No |
ClinGen ExAC |
|
|
rs773093250 CA10380727 |
10 | L>P | No |
ClinGen ExAC |
|
|
rs747974702 CA10380725 |
11 | R>G | No |
ClinGen ExAC |
|
|
CA10380724 rs776505728 |
11 | R>S | No |
ClinGen ExAC |
|
|
rs974876265 CA328717736 |
13 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1407045386 CA412680385 |
16 | D>E | No |
ClinGen gnomAD |
|
|
rs1473615172 CA412680375 |
18 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs768527159 CA10380723 |
19 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs747271970 CA10380722 |
20 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1464973050 CA412680347 |
22 | C>G | No |
ClinGen gnomAD |
|
|
rs780399978 CA10380721 |
23 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA412680324 rs745953871 |
25 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10380719 rs745953871 |
25 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 25 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772335767 CA10380720 |
25 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 26 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199600902 CA10380718 |
26 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 26 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10380717 rs757806521 |
29 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs754262387 CA10380716 |
31 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs756449989 CA10380715 |
33 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10380714 rs756449989 |
33 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220351329 CA412680260 |
35 | H>Y | No |
ClinGen TOPMed |
|
|
rs771564796 CA328717734 |
36 | R>K | No |
ClinGen 1000Genomes gnomAD |
|
|
CA10380712 rs766019811 |
39 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs764600575 CA10380709 |
42 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs768620957 CA10380707 |
43 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 43 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA210159 RCV000201355 rs776397953 |
43 | M>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1391532654 CA412680181 |
47 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA10380705 rs775918923 |
49 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA328717733 rs17856750 TCGA novel VAR_054412 |
50 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen UniProt Ensembl dbSNP NCI-TCGA |
|
rs772426568 CA10380704 |
51 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA10380703 rs746029072 |
52 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450275739 CA412680133 |
54 | G>R | No |
ClinGen gnomAD |
|
|
CA10380702 rs779082931 |
56 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA412680119 rs1183001792 |
56 | D>N | No |
ClinGen gnomAD |
|
|
rs749850634 CA10380700 |
57 | D>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1557710 rs1295586814 CA412680112 |
57 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs778243689 CA412680096 |
59 | R>C | Variant assessed as Somatic; 6.268e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756542163 CA10380698 |
59 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778243689 CA10380699 |
59 | R>S | No |
ClinGen ExAC gnomAD |
|
|
COSM612531 CA328717731 rs745405704 |
60 | Y>C | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA |
|
CA412680083 rs1430072478 |
61 | G>A | No |
ClinGen gnomAD |
|
|
CA10380696 rs781481848 |
61 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA412680070 rs1371865458 |
63 | P>Q | No |
ClinGen gnomAD |
|
|
rs1181332300 CA412680058 |
65 | P>H | No |
ClinGen TOPMed |
|
| TCGA novel | 66 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412680055 rs1426442027 COSM256915 |
66 | E>K | lung Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs199588622 CA10380694 |
67 | D>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA10380693 rs182147222 |
68 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412680024 rs1183162308 |
70 | V>G | No |
ClinGen gnomAD |
|
|
rs761202593 CA10380692 |
71 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10380691 rs753883965 |
72 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM70715 rs764123221 CA10380690 |
72 | R>H | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs201264239 COSM268390 CA10380689 |
73 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1279201108 CA412680008 COSM3406322 |
73 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA412680010 rs1279201108 |
73 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10380688 rs373597275 |
74 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10380686 rs759842755 |
79 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770302558 CA10380681 COSM137264 |
86 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 90 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781563939 CA10380679 |
92 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 93 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10380678 rs755263059 |
94 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1239343277 CA412679837 |
99 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10380675 rs373970684 |
99 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10380676 rs185623887 |
99 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10380674 rs753402348 |
100 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA412679820 rs1312961723 |
101 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1489279108 CA412679806 |
104 | F>V | No |
ClinGen TOPMed |
|
|
CA10380673 rs763640275 |
105 | S>A | No |
ClinGen ExAC |
|
|
rs867182777 CA328717728 |
105 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1239537198 CA412679788 |
107 | L>F | No |
ClinGen gnomAD |
|
|
CA412679786 rs1239537198 |
107 | L>V | No |
ClinGen gnomAD |
|
|
rs1194478921 CA412679779 |
108 | S>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 110 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370575891 CA10380672 |
111 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1331001261 CA412679757 |
112 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs183173740 CA328717727 |
112 | L>R | No |
ClinGen 1000Genomes |
|
|
CA412679744 rs1569242201 |
114 | R>Q | No |
ClinGen Ensembl |
|
|
CA412679746 rs1304387328 |
114 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758658931 CA10380670 |
121 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376220053 CA10380669 |
123 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370987121 CA10380667 |
126 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10380668 RCV000969761 rs111534710 |
126 | M>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 127 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412679647 rs1321839220 |
128 | K>T | No |
ClinGen gnomAD |
|
|
CA328717726 rs765313528 |
133 | M>T | No |
ClinGen 1000Genomes |
|
|
CA412679605 rs1373249607 |
134 | Y>C | No |
ClinGen TOPMed |
|
|
CA412679598 rs1362470386 |
135 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1362470386 CA412679596 |
135 | P>L | No |
ClinGen gnomAD |
|
|
CA10380664 rs377546433 |
136 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377546433 CA412679592 |
136 | N>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 138 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 140 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756821316 CA328717725 |
141 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 142 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412679523 rs1390673515 |
146 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10380661 rs373490143 |
147 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1569242181 CA412679517 |
148 | Q>E | No |
ClinGen Ensembl |
|
|
CA10380660 rs747328997 |
149 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs777465818 CA10380656 |
156 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs753837514 CA10380657 |
156 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1298958114 CA412679447 |
158 | E>G | No |
ClinGen gnomAD |
|
|
rs1381450905 CA412679451 |
158 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10380654 rs752742199 |
160 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 162 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288586350 CA412679423 |
162 | A>T | No |
ClinGen gnomAD |
|
|
CA10380652 rs754880892 |
165 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10380651 rs751327452 |
166 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA328717722 rs12853788 |
169 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA412679371 rs1301436671 |
169 | Q>P | No |
ClinGen TOPMed |
|
|
CA10380650 rs766153873 |
172 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10380649 rs376604023 |
174 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA412679332 CA412679333 rs1390930497 |
175 | V>L | No |
ClinGen gnomAD |
|
|
CA10380648 rs773389097 |
176 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA328717721 rs773389097 |
176 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA328717720 rs373495457 |
177 | T>I | No |
ClinGen ESP gnomAD |
|
|
CA10380645 rs777259451 |
178 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA10380646 rs201709643 |
178 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769046045 CA10380644 |
179 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1358087877 CA412679287 |
182 | H>Q | No |
ClinGen gnomAD |
|
|
rs1297774173 CA412679285 COSM612533 |
183 | P>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1010459857 CA328717718 |
184 | C>F | No |
ClinGen Ensembl |
|
| TCGA novel | 185 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412679248 rs1285459211 |
188 | C>G | No |
ClinGen TOPMed |
|
|
CA10380642 rs775738598 |
189 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA412679233 rs1325137868 |
190 | K>M | No |
ClinGen gnomAD |
|
| TCGA novel | 191 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295527572 CA412679223 |
192 | P>A | No |
ClinGen gnomAD |
|
|
CA328717717 rs760432615 |
193 | E>G | No |
ClinGen 1000Genomes |
|
|
CA10380640 rs763933030 |
193 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed |
|
rs191615343 CA10380639 |
194 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA328717716 rs775173336 |
194 | T>P | No |
ClinGen 1000Genomes |
|
|
rs1301512208 CA412679205 COSM488336 |
195 | P>L | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1301512208 CA412679204 |
195 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 195 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM388569 CA412679190 rs1392864882 |
198 | H>N | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA412679184 rs1371408544 |
198 | H>Q | No |
ClinGen gnomAD |
|
|
rs1441219269 CA412679186 |
198 | H>R | No |
ClinGen TOPMed |
|
|
CA412679171 rs1406555776 |
200 | L>R | No |
ClinGen TOPMed |
|
|
CA328717715 rs5973092 |
202 | E>K | No |
ClinGen Ensembl |
|
|
CA412679149 rs1569242120 |
204 | P>S | No |
ClinGen Ensembl |
|
|
CA328717714 rs1032644792 |
205 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 208 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1049055299 CA328717711 |
209 | S>Y | No |
ClinGen TOPMed |
|
|
rs186776394 CA10380637 |
211 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs900296132 CA328717709 |
212 | S>N | No |
ClinGen Ensembl |
|
|
rs879031814 CA328717710 |
212 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs780697323 CA10380636 |
213 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1348165787 CA412679095 |
213 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779750213 CA10380633 |
214 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751478110 CA10380634 |
214 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA412679086 rs1274925155 |
215 | P>S | No |
ClinGen gnomAD |
|
|
CA412679075 rs1206617902 |
216 | P>L | No |
ClinGen gnomAD |
|
|
rs750698635 COSM123010 CA10380631 |
219 | P>L | lung upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs750698635 CA10380632 |
219 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231966960 CA412679040 |
222 | S>N | No |
ClinGen TOPMed |
|
|
rs1178812626 CA412679044 |
222 | S>R | No |
ClinGen TOPMed |
|
|
rs200439661 CA10380629 |
224 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10380628 rs753875155 |
224 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753875155 CA412679028 |
224 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10380626 rs201141025 |
225 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10380627 rs201141025 |
225 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 226 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10380624 rs772624189 |
227 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 231 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_054413 rs17856751 CA328717706 |
232 | V>E | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
CA10380619 rs201363312 |
235 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10380620 rs201363312 |
235 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367563899 CA10380616 |
236 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367563899 CA10380617 |
236 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373732464 CA10380615 |
236 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA412678958 rs367563899 |
236 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1173917276 CA412678951 |
237 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs980574478 CA328717705 |
237 | P>S | No |
ClinGen Ensembl |
|
|
rs1257648931 CA412678947 |
238 | E>G | No |
ClinGen TOPMed |
|
|
rs759913772 CA328717704 |
238 | E>K | No |
ClinGen Ensembl |
|
|
rs750221038 CA10380613 |
240 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA412678931 rs1183598761 |
241 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1183598761 CA412678930 |
241 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1416420788 CA412678892 |
247 | I>L | No |
ClinGen TOPMed |
|
|
CA412678885 rs1435553467 |
248 | R>C | No |
ClinGen gnomAD |
|
|
CA10380609 rs778620093 |
248 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1200536148 CA412678875 |
249 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA328717702 rs368149549 |
250 | G>E | No |
ClinGen ESP |
|
|
rs778957395 CA10380606 |
254 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760796124 COSM1206353 CA10380605 |
255 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs760796124 CA10380604 |
255 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA412678843 rs1330286658 |
255 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10380603 rs753213065 |
256 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs956330858 CA328717701 |
257 | R>I | No |
ClinGen Ensembl |
|
|
rs1335244498 CA412678818 |
260 | L>I | No |
ClinGen gnomAD |
|
|
rs766814419 CA10380600 |
262 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761415324 CA10380598 |
262 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 264 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 266 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA328717700 rs267606442 |
269 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1227136423 CA412678764 |
269 | S>P | No |
ClinGen TOPMed |
|
|
rs1250023335 CA412678757 |
270 | E>A | No |
ClinGen TOPMed |
|
|
CA412678741 rs1334647143 |
272 | K>R | No |
ClinGen gnomAD |
|
|
CA10380597 rs776320600 |
273 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA412678725 rs1337003755 |
275 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10380595 rs772367780 |
277 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768105427 CA10380596 |
277 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA412678707 rs774911096 |
278 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA10380594 rs774911096 |
278 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs868037136 CA328717699 |
278 | A>V | No |
ClinGen Ensembl |
|
|
rs1362874307 CA412678704 |
279 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 279 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569241989 CA412678696 |
280 | C>G | No |
ClinGen Ensembl |
|
|
CA412678687 rs1187576607 |
281 | E>A | No |
ClinGen gnomAD |
|
|
CA328717698 rs371069007 |
281 | E>K | No |
ClinGen ESP TOPMed |
|
|
CA10380592 rs745754930 |
283 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10380593 rs772009197 |
283 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1485022474 CA412678671 |
284 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 284 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749531210 CA10380589 |
287 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs375410896 CA10380588 |
288 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA328717697 rs868662067 COSM308027 |
289 | E>K | biliary_tract Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA412678620 rs1203761837 |
292 | E>Q | No |
ClinGen gnomAD |
|
|
CA10380585 rs767658475 |
293 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs752837491 CA10380586 |
293 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10380584 rs755577180 |
296 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312815547 CA412678587 |
297 | P>A | No |
ClinGen gnomAD |
|
|
rs1312815547 CA412678588 |
297 | P>T | No |
ClinGen gnomAD |
|
|
CA412678581 rs1371093696 |
298 | C>R | No |
ClinGen TOPMed |
|
|
rs1389292928 CA412678579 |
298 | C>Y | No |
ClinGen gnomAD |
|
|
rs1398758922 CA412678568 |
299 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA412678558 rs1173318306 |
301 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA412678554 rs1375072673 |
301 | F>S | No |
ClinGen TOPMed |
|
|
rs568669965 CA328717695 |
304 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1163519024 CA412678536 |
304 | R>W | No |
ClinGen gnomAD |
|
|
rs1382920443 CA412678533 |
305 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1183517912 CA412678526 |
306 | F>L | No |
ClinGen gnomAD |
|
|
CA412678523 rs1450569557 |
306 | F>S | No |
ClinGen gnomAD |
|
|
CA412678516 rs1446820061 |
307 | E>G | No |
ClinGen gnomAD |
|
|
COSM1120754 CA10380580 rs776209186 |
307 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1270270740 CA412678505 |
309 | P>A | No |
ClinGen gnomAD |
|
|
rs1228889342 CA412678502 |
309 | P>R | No |
ClinGen gnomAD |
|
|
rs760185108 CA10380578 |
310 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA412678499 rs1339113194 |
310 | L>V | No |
ClinGen gnomAD |
|
|
CA412678474 rs1362509719 |
314 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10380575 rs745844922 |
314 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA412678476 rs1362509719 |
314 | R>S | No |
ClinGen gnomAD |
|
|
CA412678468 rs1377622419 |
315 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA328717693 rs978749289 |
316 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA412678452 rs1601859672 |
317 | P>L | No |
ClinGen Ensembl |
|
|
CA10380574 rs774259482 |
317 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10380573 rs377393974 |
318 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749115217 CA10380572 |
319 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs201763694 CA10380571 |
320 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA328717691 rs548369838 COSM1292997 |
321 | P>L | Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA412678434 rs1231411524 |
321 | P>T | No |
ClinGen TOPMed |
|
|
CA328717690 rs899112710 |
322 | V>A | No |
ClinGen Ensembl |
|
|
rs1421426759 CA412678415 |
324 | S>N | No |
ClinGen gnomAD |
|
|
CA412678417 rs1476852038 |
324 | S>R | No |
ClinGen gnomAD |
|
|
rs1204433594 CA412678410 |
325 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM1467726 CA10380568 rs369143353 |
326 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10380567 rs755090154 |
326 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA328717688 rs200047366 |
327 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10380566 rs200047366 |
327 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10380563 rs372927249 |
332 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412678362 rs1274997604 |
333 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 334 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760405036 CA10380561 |
334 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA412678352 rs1185049807 COSM1682532 |
334 | E>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA328717684 rs879182110 |
336 | H>R | No |
ClinGen Ensembl |
|
|
rs1441492553 CA412678335 |
337 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM457423 CA10380559 rs767063134 |
338 | R>C | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
rs200119016 CA10380558 |
338 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA328717682 rs5928428 |
339 | L>V | No |
ClinGen Ensembl |
|
|
rs770916436 CA328717681 |
340 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs770916436 CA10380556 |
340 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 340 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762751569 CA10380555 |
342 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA10380554 rs773093765 |
343 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 344 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774608883 CA328717680 |
344 | T>S | No |
ClinGen Ensembl |
|
|
rs769448337 CA10380553 |
345 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs375564986 CA10380551 |
346 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768919658 CA10380550 |
346 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412678287 COSM304713 rs768919658 |
346 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA328717679 COSM280993 rs375564986 |
346 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA412678285 rs1479678029 |
347 | G>R | No |
ClinGen gnomAD |
|
|
CA10380548 rs779936446 |
351 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10380547 rs758963950 |
351 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA328717678 rs879150094 |
352 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs369975379 CA10380546 |
352 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs879150094 CA412678254 |
352 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 354 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412678236 rs1282791850 |
355 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
COSM756093 rs773912019 CA328717677 |
356 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA412678215 rs1601859558 |
358 | G>E | No |
ClinGen Ensembl |
|
|
CA412678207 rs1157087462 |
359 | V>E | No |
ClinGen TOPMed |
|
|
CA412678205 rs1370683088 |
360 | S>P | No |
ClinGen TOPMed |
|
|
rs757594529 CA10380544 |
361 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374052739 COSM422576 CA10380543 |
361 | R>H | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374052739 CA328717676 |
361 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1321209077 CA412678189 |
363 | R>C | No |
ClinGen gnomAD |
|
|
CA10380541 rs759132819 |
363 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10380542 rs759132819 |
363 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412678179 rs1224051046 |
365 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA412678177 COSM1120753 rs1224051046 |
365 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs751093505 CA10380540 |
366 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA412678174 rs1373689039 |
366 | P>H | No |
ClinGen TOPMed |
|
|
rs1390297269 CA412678169 |
367 | P>S | No |
ClinGen TOPMed |
|
|
CA412678147 rs1440865638 |
370 | R>H | No |
ClinGen gnomAD |
|
|
rs371417690 CA412678143 |
371 | R>P | No |
ClinGen ESP TOPMed |
|
|
rs371417690 CA328717675 |
371 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA10380537 rs762990565 |
371 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773005335 CA10380536 |
372 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs773005335 CA412678138 |
372 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 373 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761691671 CA10380534 |
375 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10380533 rs776498294 |
375 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1601859515 COSM756095 CA412678114 |
376 | H>R | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA412678110 rs1811716 |
377 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_054414 CA10380532 rs1811716 |
377 | A>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM1625837 CA10380531 rs373924083 |
377 | A>V | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10380527 rs746434746 |
380 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10380526 rs779274864 |
381 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757694555 CA10380525 |
381 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412678085 rs757694555 |
381 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759260358 CA10380524 |
382 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 382 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10380523 rs778064079 |
384 | V>G | No |
ClinGen ExAC |
|
|
CA412678069 rs1569241824 |
384 | V>L | No |
ClinGen Ensembl |
|
|
CA10380521 rs182210433 |
387 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1472315737 CA412678046 |
388 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs200790787 CA10380519 |
389 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA412678034 rs200790787 |
389 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750445157 CA10380517 |
391 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA328717674 rs201131731 |
391 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1180094624 CA412678005 |
394 | T>S | No |
ClinGen gnomAD |
|
|
rs1425357538 CA412677991 |
396 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10380513 rs763939396 |
398 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA412677966 rs1185342533 |
400 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 403 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 404 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374415122 CA10380512 |
405 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10380511 rs775552228 |
406 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772251379 COSM3844581 CA10380510 |
406 | T>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs745931235 CA10380509 |
407 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs774431832 CA10380508 |
407 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771451216 CA10380507 |
408 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 410 | H>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10380505 rs778153750 |
410 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 411 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756452001 COSM1120749 CA10380504 |
412 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs371474916 COSM1120748 CA10380503 |
412 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs779572171 CA10380502 |
416 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749910619 CA10380500 |
417 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370187603 CA10380499 |
417 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1367689586 CA412677841 |
420 | Q>H | No |
ClinGen gnomAD |
|
|
rs1161697632 CA412677837 |
421 | V>M | No |
ClinGen gnomAD |
|
|
CA412677829 rs1424132716 |
422 | S>C | No |
ClinGen gnomAD |
|
|
CA412677826 rs1367787942 |
423 | N>D | No |
ClinGen gnomAD |
|
|
rs377420515 CA10380497 |
423 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764031353 CA10380496 |
424 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 424 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412677800 rs1569241765 |
427 | Y>F | No |
ClinGen Ensembl |
|
| TCGA novel | 428 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA328717673 rs1026059843 |
430 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1490393840 CA412677774 |
431 | V>A | No |
ClinGen gnomAD |
|
|
CA412677764 rs1270630226 |
433 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10380495 rs760375229 |
434 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs768996594 CA10380494 |
435 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000201331 CA210127 rs373238471 |
437 | T>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs775650386 CA10380491 |
440 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773693650 CA10380489 |
441 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412677698 rs1347573673 |
443 | D>V | No |
ClinGen gnomAD |
|
|
rs772490672 CA10380488 |
444 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10380487 rs377327779 |
444 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10380486 rs747475037 |
445 | C>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 445 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412677683 rs1397370628 |
446 | E>K | No |
ClinGen gnomAD |
|
|
CA10380483 rs778609166 |
448 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10380482 rs778609166 |
448 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758012443 CA10380484 |
448 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA412677667 rs1430939045 |
449 | V>M | No |
ClinGen gnomAD |
|
|
CA10380480 rs753885960 |
450 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777849796 CA10380479 |
455 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756013226 CA10380478 |
456 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA412677614 rs1479912221 |
457 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752456861 CA10380477 |
461 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1721913 rs767303095 CA10380476 |
464 | G>E | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA412677546 rs1360945942 |
467 | C>R | No |
ClinGen TOPMed |
|
|
CA10380475 rs759715180 |
470 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs868604600 CA328717672 |
472 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA10380473 rs766501036 |
474 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA10380472 rs763012560 |
475 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA412677483 rs1233627323 |
476 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs746074844 CA328717671 |
478 | P>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA412677473 rs746074844 |
478 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA10380471 rs773204999 |
480 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 480 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389764669 CA412677461 |
480 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs866178508 CA328717669 |
482 | H>P | No |
ClinGen Ensembl |
|
|
CA10380469 rs762336007 |
482 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412677438 rs1569241709 |
483 | P>L | No |
ClinGen Ensembl |
|
|
rs776894713 CA10380468 |
483 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs745559073 CA10380466 |
486 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
COSM756099 CA412677419 rs1408103342 |
486 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA412677414 rs1477454448 |
487 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA412677416 COSM168848 rs1477454448 |
487 | R>Q | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. large_intestine breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA412677417 rs1173809696 |
487 | R>W | No |
ClinGen gnomAD |
|
|
CA10380465 rs199629375 |
488 | R>M | No |
ClinGen ExAC TOPMed |
|
|
CA328717667 rs199629375 |
488 | R>T | No |
ClinGen ExAC TOPMed |
|
|
rs201826329 CA10380464 |
492 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs190486831 CA10380463 |
493 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA328717666 rs905073231 |
493 | S>P | No |
ClinGen Ensembl |
|
|
rs199697423 CA328717665 |
494 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs199697423 CA412677377 |
494 | Q>K | No |
ClinGen TOPMed gnomAD |
|
| VAR_054415 | 495 | P>del | No | UniProt | |
|
COSM280992 rs1261580305 CA412677342 |
499 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1261580305 CA412677343 |
499 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10380462 rs777369886 |
499 | R>H | No |
ClinGen ExAC |
|
| TCGA novel | 499 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412677337 rs375344520 |
500 | R>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA328717662 COSM1467721 rs375344520 |
500 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs1200250652 CA412677338 COSM1331891 |
500 | R>W | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA328717661 rs5973090 |
501 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs917350837 CA328717660 |
504 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs373494549 CA328717659 |
505 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs373494549 CA412677311 |
505 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs5973089 CA328717658 |
505 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA412677304 rs756036323 |
506 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412677306 rs1253978789 |
506 | S>P | No |
ClinGen TOPMed |
|
|
CA10380461 rs756036323 |
506 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA328717657 rs5973088 |
507 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs754786728 CA10380458 |
508 | P>H | No |
ClinGen ExAC |
|
|
CA412677287 rs1158705516 |
509 | P>L | No |
ClinGen TOPMed |
|
|
CA10380456 rs777926181 |
511 | T>A | No |
ClinGen 1000Genomes TOPMed |
|
|
CA412677268 COSM280991 rs1394880428 |
512 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1193735981 CA412677266 |
512 | R>P | No |
ClinGen gnomAD |
|
|
rs766588910 CA10380454 |
513 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10380455 rs201381225 |
513 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs879226994 CA328717656 |
514 | T>A | No |
ClinGen TOPMed |
|
|
CA328717655 rs878906003 |
514 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA412677258 rs878906003 |
514 | T>R | No |
ClinGen TOPMed |
|
|
CA10380445 rs17855514 |
518 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA328717654 rs17855514 |
518 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10380442 rs1334539034 |
518 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA412677235 rs1334539034 |
518 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs867589029 CA412677234 |
519 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10380438 rs765324556 |
519 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs867589029 CA328717652 |
519 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA412677229 rs1181862055 |
520 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA412677217 rs1231775767 |
521 | P>L | No |
ClinGen TOPMed |
|
|
CA412677202 rs1379225429 |
524 | T>A | No |
ClinGen gnomAD |
|
|
rs762269613 CA10380435 |
524 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762269613 CA412677198 |
524 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446906013 CA412677195 |
525 | R>C | No |
ClinGen gnomAD |
|
|
CA412677192 rs1241853720 |
525 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412677189 rs1189902776 COSM3357435 |
526 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs768961985 CA10380429 |
531 | G>A | No |
ClinGen ExAC TOPMed |
|
|
rs5971820 CA10380431 VAR_054416 |
531 | G>R | No |
ClinGen UniProt 1000Genomes TOPMed dbSNP |
|
|
CA412677160 rs5971820 |
531 | G>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA10380426 rs770720988 COSM1120744 |
532 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
CA10380427 rs201295532 |
532 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777465412 CA10380423 |
533 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs45535434 CA328717650 |
534 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 534 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10380421 rs748091331 |
536 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA328717649 rs45574734 |
537 | T>S | No |
ClinGen Ensembl |
|
|
COSM1120742 rs781182091 CA10380420 |
538 | R>C | lung Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs1292506248 CA412677118 |
538 | R>L | No |
ClinGen gnomAD |
|
|
CA10380419 rs754872136 |
539 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1569241583 CA412677110 |
540 | V>L | No |
ClinGen Ensembl |
|
|
RCV000999387 rs746815476 CA10380417 |
542 | S>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1555968153 CA10380415 |
544 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs45577239 COSM1467718 CA10380413 |
544 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 544 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs45577239 CA10380414 |
544 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA10380411 rs368188314 |
545 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1601859104 CA412677079 |
546 | E>K | No |
ClinGen Ensembl |
|
|
rs45527437 CA328717646 |
547 | L>P | No |
ClinGen TOPMed |
|
|
rs757347682 CA10380409 |
548 | P>S | No |
ClinGen ExAC TOPMed |
|
|
rs1380099578 CA412677056 |
549 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1555968141 CA10380407 |
549 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA412677057 rs1380099578 |
549 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10380406 rs754371057 |
551 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754371057 CA412677045 |
551 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs910801621 CA328717644 COSM404448 |
552 | R>P | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs183960907 CA10380405 |
552 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749845180 CA10380404 |
553 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3786477 rs1475940599 CA412677019 |
556 | L>I | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 557 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745403635 CA10380401 |
558 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745403635 CA412677002 |
558 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745403635 CA10380402 |
558 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412676976 rs1287623496 |
562 | K>I | No |
ClinGen gnomAD |
|
|
rs776033727 CA10380396 COSM756101 |
563 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC |
|
CA412676970 rs1227153937 |
563 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 564 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10380395 rs746913403 |
565 | E>K | No |
ClinGen ExAC |
|
|
CA412676946 rs1227738343 |
567 | H>P | No |
ClinGen gnomAD |
|
|
rs758170672 CA10380393 |
569 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1339397781 CA412676922 |
570 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757355904 CA10380390 |
574 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10380389 rs77378325 |
576 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10380388 rs764031941 COSM229631 |
576 | R>Q | lung Variant assessed as Somatic; 0.0 impact. skin [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA412676884 rs1410955242 |
577 | A>S | No |
ClinGen gnomAD |
|
|
rs1601859011 CA412676863 |
580 | I>V | No |
ClinGen Ensembl |
|
|
rs1569241497 COSM1120739 CA412676847 |
582 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs200762993 CA10380386 |
585 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA412676794 rs1201936192 |
590 | S>G | No |
ClinGen gnomAD |
|
|
CA412676783 rs890517281 |
591 | T>I | No |
ClinGen TOPMed |
|
|
rs890517281 CA328717642 |
591 | T>R | No |
ClinGen TOPMed |
|
|
rs1263770879 CA412676781 |
592 | K>E | No |
ClinGen TOPMed |
|
|
rs1042969349 CA412676774 |
593 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1042969349 CA328717641 |
593 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10380385 rs768051381 |
594 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs371285411 CA10380384 |
594 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10380383 rs774509523 |
595 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA412676738 rs1275062557 |
598 | S>F | No |
ClinGen gnomAD |
|
|
rs1002043248 CA328717639 |
598 | S>P | No |
ClinGen Ensembl |
|
|
CA10380382 rs764952229 |
601 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1434447856 CA412676690 |
605 | S>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 606 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 607 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10380380 rs776240603 |
607 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 607 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768126659 CA10380379 |
608 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs760657768 CA10380378 |
610 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1442328319 CA412676650 |
611 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM325312 CA10380377 rs775396169 |
615 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10380376 rs771923154 |
617 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs745682403 CA10380375 |
619 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA10380374 rs771208745 |
623 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10380372 rs185182764 |
624 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA328717638 rs780890446 |
626 | R>K | No |
ClinGen gnomAD |
|
|
CA10380371 rs756248152 CA10380370 |
626 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA328717637 rs769978195 |
630 | D>V | No |
ClinGen 1000Genomes |
|
|
CA412676513 rs1381994261 |
632 | T>A | No |
ClinGen TOPMed |
|
|
CA412676512 rs1381994261 |
632 | T>S | No |
ClinGen TOPMed |
|
|
CA328717636 rs367549615 |
633 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10380368 rs781764966 |
634 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA10380367 rs755482389 |
637 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10380366 rs751971434 |
637 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 639 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766609741 CA10380365 |
640 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 643 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761570057 CA10380364 |
643 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412676384 rs1442589738 |
650 | C>Y | No |
ClinGen TOPMed |
|
|
CA412676368 rs1310026840 |
652 | S>L | No |
ClinGen gnomAD |
|
|
CA412676358 rs1230523287 |
654 | L>V | No |
ClinGen TOPMed |
|
|
rs904576106 CA328717635 |
657 | S>R | No |
ClinGen TOPMed |
|
|
CA10380363 rs748015716 |
657 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 658 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374953405 CA412676315 |
660 | L>I | No |
ClinGen gnomAD |
|
|
CA10380362 rs763654297 |
660 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs760177315 CA10380361 |
663 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10380360 rs373815635 |
664 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412676236 rs1204301400 |
670 | S>L | No |
ClinGen TOPMed |
|
|
rs772013015 CA10380359 |
674 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA10380357 rs756772940 |
679 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10380358 rs759342985 |
679 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA328717634 rs1043655546 |
680 | H>D | No |
ClinGen Ensembl |
|
|
CA412676157 rs770609384 |
681 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA10380356 COSM267897 rs770609384 |
681 | T>M | Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA412676160 rs1469665252 |
681 | T>P | No |
ClinGen TOPMed |
|
|
CA10380354 rs778135015 |
682 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10380352 COSM1120735 rs201440040 |
683 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201440040 CA10380353 |
683 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376592095 CA10380351 |
684 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10380349 rs751982631 |
686 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1569241437 CA412676133 |
686 | Y>H | No |
ClinGen Ensembl |
|
|
CA10380348 rs780521265 |
688 | A>T | Variant assessed as Somatic; 6.254e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA328717633 rs371783934 |
689 | Q>E | No |
ClinGen 1000Genomes gnomAD |
|
|
CA412676109 COSM186063 rs1283188238 |
690 | R>C | biliary_tract Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM367757 CA412676105 rs1184146388 |
690 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 696 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10380346 rs753596776 |
696 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 700 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412676017 rs1317819759 |
702 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 703 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866327016 CA328717632 |
705 | W>* | No |
ClinGen Ensembl |
|
|
CA412675999 rs1310579729 |
705 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1310579729 CA412676000 |
705 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1378973567 CA412675957 |
711 | D>Y | No |
ClinGen gnomAD |
|
|
rs763742206 CA10380345 |
712 | E>D | No |
ClinGen ExAC |
|
|
rs1433079100 CA412675931 |
714 | L>F | No |
ClinGen gnomAD |
|
|
rs760265227 CA10380343 |
715 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs766975274 CA10380341 |
716 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10380342 rs752226841 |
716 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373419130 CA328717631 |
721 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 723 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10380340 rs759567120 |
723 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1166892402 CA412675867 |
724 | P>R | No |
ClinGen gnomAD |
|
|
rs1255135864 CA412675857 |
725 | D>E | No |
ClinGen gnomAD |
|
|
rs1397953200 CA412675863 |
725 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 726 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412675848 rs1308569264 |
727 | P>T | No |
ClinGen TOPMed |
|
|
rs1186902025 CA412675829 |
729 | V>G | No |
ClinGen gnomAD |
|
|
COSM488334 rs376245860 CA10380338 |
731 | D>E | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs200631760 CA10380339 |
731 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA328717629 rs773080823 |
732 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA328717630 rs867405123 |
732 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
COSM212480 CA412675785 rs1569241395 |
736 | P>L | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA10380334 rs748336924 |
737 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214165078 CA412675783 |
737 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1487655399 CA412675746 |
742 | F>L | No |
ClinGen TOPMed |
|
|
CA10380330 rs780422931 |
743 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10380329 rs373293519 |
745 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1338658080 CA412675723 COSM373415 |
745 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 749 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467254906 CA412675695 |
749 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 753 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297864134 CA412675670 |
753 | I>V | No |
ClinGen gnomAD |
|
|
rs1418593317 CA412675661 |
754 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 759 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746246895 CA10380328 |
764 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1180567396 CA412675580 |
766 | D>N | No |
ClinGen TOPMed |
|
|
CA412675565 rs1420741068 |
768 | V>F | No |
ClinGen TOPMed |
|
|
CA328717628 rs868232561 |
773 | Q>* | No |
ClinGen Ensembl |
|
|
CA412675527 rs1456274810 |
774 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10380325 rs752316695 |
774 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 775 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767112998 CA10380324 |
777 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 780 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412675446 rs1478701487 |
785 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs754442345 CA10380323 |
786 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA412675440 rs1420989340 |
786 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10380322 rs751013151 |
787 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1488414652 CA412675420 |
789 | E>K | No |
ClinGen gnomAD |
|
|
CA412675410 rs1252443322 |
790 | E>G | No |
ClinGen gnomAD |
|
|
CA412675406 rs58540664 |
791 | D>H | No |
ClinGen gnomAD |
|
|
CA328717626 rs58540664 |
791 | D>N | No |
ClinGen gnomAD |
No associated diseases with Q5JRC9
No regional properties for Q5JRC9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q5JRC9 | |||
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGDQRLQDWL | RSPGMDSKPW | YCNKRPSKCF | AKCKHRRLRF | PPMDTQNWVF | VKEGMDDFRY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GCPSPEDTLV | CRRDEFLLPK | ISLRGPQADP | KSGQKKLLKK | AALFSKLSPA | QLARKAFVEQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VEAQLMAKHP | LAMYPNLGED | MPPDLLLQVL | KHLDPERELE | DAWACCETQE | KTTEVPTEPG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KHPCGEFCLK | PPETPVSHLL | PEPPETGVSH | LSPEPPKTPV | SSLRPEPPET | GVSHLRPEPP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ETGVSHIRPG | PPITRRRSSL | LRQLLKLDSE | RKLEDARAPC | EGREKTTDEP | TEPGKYPCGK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FCPRPFETPL | SHLRQEPPKT | PVSSLRPEPP | ETGESHLRLE | HSKTRRGSSL | RSEPSETGVS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RLRLAPPKTR | RGSSLHAEPS | KTGVSHLSPE | PPKTEVSHLH | PVPPKTGVCH | LRLEPPDTSQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VSNLLLYILK | VLDSGRTLKD | VWDRCEARVK | KTKEPTEPHK | SPCGEPCLQP | PETQVSHPHP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EHPKTRRRSS | LHSQPPKTRR | TSSLRSEPPK | TRRTSSLRSE | PPKTRRTSSL | GPEPPKTRRV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SSLRPELPKS | RRVSSLHPEP | PKAPESHQFS | EPPKIRASYI | KELLQEDTPS | TKECVSDSLQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| YRYTSEKLRE | FFKWAGDLGA | DEESIRNLFD | FTPKYRATHE | DQKFKKVKEC | SSELKYSMEL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DEKDEDKFFS | QEKYWGRKFH | TPSNSYTAQR | VKMKYGAWYL | KPKLWKKLRS | DEPLIDPKLL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LKKPDEPDVL | DDLYGPIAFK | DFILSKGYEM | PGIIQRLFAR | RGWTYDSVKT | PIQRAMIFYK |
| 790 | |||||
| YKEIVEASEE | D |