Q9Y6N8
PR
Gene name |
CDH10 |
Protein name |
Cadherin-10 |
Names |
T2-cadherin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1008 |
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 Q9Y6N8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y6N8-F1 | Predicted | AlphaFoldDB |
585 variants for Q9Y6N8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs113887214 | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767947109 CA3215857 |
4 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 5 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359303671 rs1196609462 |
9 | L>P | No |
ClinGen gnomAD |
|
|
rs1490017285 CA359303653 |
10 | F>Y | No |
ClinGen gnomAD |
|
|
CA115754079 rs35460631 |
14 | V>G | No |
ClinGen Ensembl |
|
|
rs111446362 CA115754054 |
16 | L>P | No |
ClinGen Ensembl |
|
|
CA115754048 rs921462526 |
22 | P>A | No |
ClinGen Ensembl |
|
|
CA3215851 rs768358542 |
22 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 24 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1579453362 CA359303370 |
25 | M>K | No |
ClinGen Ensembl |
|
|
rs1453122361 CA359303388 |
25 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 28 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3215850 rs140810299 |
29 | T>M | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 32 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771900795 CA3215848 |
33 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 33 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359303239 rs1579453332 |
33 | Q>R | No |
ClinGen Ensembl |
|
|
CA3215847 rs545638636 COSM1067141 |
35 | R>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 36 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 36 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs575869875 CA115754024 |
38 | S>R | No |
ClinGen Ensembl |
|
|
CA115754023 rs555716825 |
39 | S>P | No |
ClinGen Ensembl |
|
|
rs1352604182 CA359303137 |
40 | R>C | No |
ClinGen gnomAD |
|
|
CA3215843 rs777678940 |
40 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3215844 rs777678940 |
40 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3215845 rs777678940 |
40 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781536027 CA3215840 |
41 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs752914373 CA3215841 |
41 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752914373 CA3215842 |
41 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3215839 rs755461975 |
42 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3215837 rs201815237 |
42 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201815237 CA3215838 |
42 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758764492 CA3215836 |
45 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3215835 rs376632889 |
46 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA115753979 rs1015807494 |
47 | K>E | No |
ClinGen TOPMed |
|
|
rs866777257 CA115753974 |
49 | L>F | No |
ClinGen Ensembl |
|
|
COSM149805 rs760208493 CA3215833 |
51 | R>C | Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA359302926 COSM1292120 rs1205941273 |
51 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM1200401 CA359302875 rs1461976553 |
54 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA359302859 rs1305305867 |
55 | G>D | No |
ClinGen TOPMed |
|
|
rs1004382589 CA115753925 |
56 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 56 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 60 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA115753923 rs972056820 |
61 | F>L | No |
ClinGen TOPMed |
|
|
rs1223214295 CA359302666 |
65 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 68 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1488275036 CA359302591 |
69 | G>E | No |
ClinGen gnomAD |
|
|
CA359302580 rs1285784667 |
70 | S>Y | No |
ClinGen gnomAD |
|
|
CA359302558 rs1261651357 |
72 | Y>H | No |
ClinGen gnomAD |
|
|
rs147281963 CA3215827 |
75 | V>A | No |
ClinGen ESP ExAC TOPMed |
|
|
rs770889275 CA3215828 COSM1436927 |
75 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs773181787 CA3215826 |
76 | G>D | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA115753886 rs537653681 |
76 | G>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 78 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359310009 rs1219809807 |
80 | S>L | No |
ClinGen TOPMed |
|
|
rs1425828005 CA359309998 |
82 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs267600594 CA115774765 |
85 | G>R | No |
ClinGen Ensembl |
|
|
rs748191207 CA3215804 |
86 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1262722121 CA359309954 |
88 | S>A | No |
ClinGen gnomAD |
|
|
rs1186109984 CA359309951 |
88 | S>L | No |
ClinGen gnomAD |
|
|
CA3215803 rs776784563 |
91 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA3215801 rs747178108 |
92 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs769029994 CA3215802 |
92 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1338423662 CA359309909 |
95 | G>* | No |
ClinGen gnomAD |
|
|
rs1358640668 CA359309901 |
96 | D>G | No |
ClinGen gnomAD |
|
|
rs780399606 CA3215800 |
99 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs758727580 CA3215799 |
100 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA359309874 rs1380108063 |
101 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 102 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779342692 CA3215797 |
103 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA359309836 rs1406135126 |
106 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA359309819 rs1384393892 |
108 | T>I | No |
ClinGen TOPMed |
|
| rs748395403 | 108 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748395403 | 108 | T>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 113 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359309784 rs1162170191 |
113 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs774989278 CA3215794 |
114 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs780636248 CA3215793 COSM591827 |
115 | R>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs754465931 COSM738223 CA3215792 |
116 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA359309769 rs754465931 |
116 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1067136 CA359309770 rs754465931 |
116 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3215791 rs751255117 |
117 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs866233508 CA115774627 |
120 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs982755739 CA115774625 |
121 | E>* | No |
ClinGen TOPMed |
|
|
CA359309723 rs1250533668 |
123 | A>T | No |
ClinGen gnomAD |
|
|
CA3215789 rs762716410 |
126 | T>I | No |
ClinGen ExAC |
|
| TCGA novel | 126 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373340564 COSM1067135 CA3215786 |
128 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3215787 rs373340564 |
128 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369925572 COSM213906 CA3215785 |
128 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760804087 CA359309690 |
129 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs760804087 CA359309689 |
129 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs760804087 CA3215783 |
129 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA359309676 rs775638474 |
131 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3215782 rs775638474 |
131 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1397733980 CA359309671 |
132 | I>V | No |
ClinGen gnomAD |
|
|
CA359309664 rs1561148411 |
133 | N>D | No |
ClinGen Ensembl |
|
|
CA3215781 rs772322703 |
133 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1460697543 CA359309658 |
134 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1261442492 CA359309647 |
135 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 138 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779300580 COSM1186749 CA3215779 |
142 | P>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3215777 rs749846087 |
143 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 147 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359309572 rs1554019664 |
147 | V>M | No |
ClinGen Ensembl |
|
|
CA3215776 rs778225203 |
148 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA359309525 rs1249602021 |
152 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3215774 rs751056776 |
156 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3215773 rs779586453 |
157 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA115774496 rs780946509 |
157 | E>K | No |
ClinGen Ensembl |
|
|
CA3215771 rs750216408 |
159 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs139913021 CA3215770 |
159 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359309420 rs139913021 |
159 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359309335 rs1408711384 |
165 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1337648549 CA359309295 COSM3702792 |
168 | S>I | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1337648549 CA359309299 |
168 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1045798690 CA115774450 |
175 | V>A | No |
ClinGen Ensembl |
|
|
rs760893659 CA3215766 |
175 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA359308828 rs1331030034 |
177 | T>S | No |
ClinGen TOPMed |
|
|
rs756044907 CA3215748 |
180 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3215747 rs375653846 |
181 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs34600303 CA3215746 |
182 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 184 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234614380 CA359308760 |
186 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 190 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215163764 CA359308671 |
192 | Y>C | No |
ClinGen gnomAD |
|
|
CA359308604 rs1206661548 |
196 | A>V | No |
ClinGen TOPMed |
|
|
rs773499604 CA3215741 |
199 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354637158 CA359308537 |
201 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1379177196 CA359308516 |
202 | I>M | No |
ClinGen TOPMed |
|
|
rs770318525 CA3215740 |
202 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3215739 rs748639897 |
203 | L>P | No |
ClinGen ExAC |
|
|
CA359308460 rs1296415762 |
206 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359308472 rs1325989752 |
206 | Q>K | No |
ClinGen gnomAD |
|
|
rs867383107 CA115772886 |
207 | P>L | No |
ClinGen Ensembl |
|
|
CA359308418 rs1406741081 |
210 | S>T | No |
ClinGen gnomAD |
|
|
CA3215738 rs370667527 |
213 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359308380 rs370667527 |
213 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3215710 rs754806572 |
217 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359308245 rs1456089928 |
220 | T>I | No |
ClinGen gnomAD |
|
|
rs1481247919 CA359308239 |
221 | A>P | No |
ClinGen TOPMed |
|
|
CA359308208 rs1374333268 |
223 | P>L | No |
ClinGen gnomAD |
|
|
CA359308175 rs1404772904 |
225 | M>I | No |
ClinGen gnomAD |
|
|
rs750683940 CA3215706 |
225 | M>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 226 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765438381 CA3215705 |
228 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA115772242 rs1043611170 |
233 | Y>F | No |
ClinGen TOPMed |
|
|
rs267600593 CA115772230 |
234 | Q>* | No |
ClinGen gnomAD |
|
|
rs267600593 CA359308062 |
234 | Q>E | No |
ClinGen gnomAD |
|
|
CA3215704 rs762294905 |
234 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 235 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA558434838 rs1321121768 |
235 | V>SRVLLSVTDSVV* | No |
ClinGen gnomAD |
|
|
CA359308024 rs1395298940 |
237 | I>L | No |
ClinGen TOPMed |
|
|
rs764663767 CA3215702 |
238 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 240 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA443564606 rs1383174361 |
240 | K>S* | No |
ClinGen gnomAD |
|
| TCGA novel | 241 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359307931 rs1284910654 |
243 | G>D | No |
ClinGen gnomAD |
|
|
rs566786330 CA115772186 |
243 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA115772176 rs575203851 COSM1739155 |
244 | G>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes gnomAD |
| TCGA novel | 245 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359307897 rs1166182039 |
246 | M>V | No |
ClinGen TOPMed |
|
|
CA115772175 rs867889411 |
248 | G>S | No |
ClinGen Ensembl |
|
|
CA3215699 rs770608584 |
249 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs774016877 CA3215700 |
249 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs913890544 CA115772167 |
250 | S>L | No |
ClinGen TOPMed |
|
|
CA359307847 rs1561146446 |
251 | G>E | No |
ClinGen Ensembl |
|
|
CA115772159 rs61999328 |
252 | T>A | No |
ClinGen Ensembl |
|
|
rs773060107 CA3215697 |
252 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs773060107 CA3215698 |
252 | T>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 255 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 256 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3215696 rs766525816 |
257 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747981734 CA3215695 |
258 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 259 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746998768 CA3215692 |
264 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs746998768 CA359307704 |
264 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA3215691 rs144052438 |
265 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 266 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs988034282 CA115772097 |
268 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs758541017 CA3215690 |
268 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486903846 CA359307645 |
270 | P>L | No |
ClinGen gnomAD |
|
|
CA359307646 rs1486903846 |
270 | P>R | No |
ClinGen gnomAD |
|
|
rs1203279001 CA359307648 |
270 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1292144434 CA359305307 |
272 | N>S | No |
ClinGen gnomAD |
|
|
CA3215636 rs776211315 |
273 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1355351664 CA359305278 |
274 | I>T | No |
ClinGen gnomAD |
|
|
CA115750234 rs377179525 |
274 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs973961005 CA115750222 |
276 | L>R | No |
ClinGen gnomAD |
|
|
rs760475937 CA3215634 |
277 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149518689 COSM183736 CA3215633 |
277 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA115750175 rs928187381 |
278 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs774321163 CA3215630 |
284 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 286 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs137998365 CA3215628 |
287 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137998365 CA3215629 |
287 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3215627 rs777873507 |
288 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777873507 CA359305073 |
288 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1030268503 CA359305054 |
289 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1030268503 CA115750134 |
289 | G>V | No |
ClinGen TOPMed |
|
|
CA3215626 rs756342275 |
290 | S>I | No |
ClinGen ExAC |
|
|
CA359305010 rs1325133017 |
291 | V>A | No |
ClinGen gnomAD |
|
|
CA115750129 rs368274497 |
291 | V>F | No |
ClinGen ESP TOPMed |
|
|
CA3215625 rs748555707 |
292 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359304949 rs1234692218 |
295 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 296 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755374117 CA3215623 |
296 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420122238 CA359304863 |
300 | K>E | No |
ClinGen TOPMed |
|
|
CA3215622 rs779690859 |
300 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 301 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 305 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 305 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359304787 rs1374459905 |
305 | E>K | No |
ClinGen gnomAD |
|
|
CA359304788 rs1374459905 |
305 | E>Q | No |
ClinGen gnomAD |
|
|
rs201423740 CA3215621 |
306 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756773981 CA3215620 |
307 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1067127 rs753331850 CA3215619 |
307 | R>Q | Variant assessed as Somatic; 0.0 impact. skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs967855908 CA115750047 |
308 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 310 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 312 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3215618 rs763740158 |
313 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1375868396 CA359304666 |
314 | T>S | No |
ClinGen gnomAD |
|
|
rs1183857716 COSM3429367 CA359304655 |
315 | D>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs145397210 CA3215617 |
316 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA115750019 rs1011823203 |
316 | M>K | No |
ClinGen gnomAD |
|
|
rs1011823203 CA359304644 |
316 | M>T | No |
ClinGen gnomAD |
|
|
CA3215616 rs201956238 |
317 | F>L | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 318 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 318 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176440527 CA359304596 |
319 | I>N | No |
ClinGen gnomAD |
|
|
rs767347173 COSM1067126 CA3215615 |
320 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA359304574 rs1579739129 |
321 | T>A | No |
ClinGen Ensembl |
|
|
COSM738239 CA3215614 rs759342297 |
322 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs201935386 CA3215613 |
323 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 326 | Q>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370452937 CA115750007 |
327 | E>G | No |
ClinGen ESP TOPMed |
|
|
rs1254796026 CA359304463 |
328 | G>D | No |
ClinGen gnomAD |
|
|
CA359304434 rs1241740209 |
330 | I>V | No |
ClinGen gnomAD |
|
|
rs770846966 CA3215612 |
331 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs762951958 CA3215611 |
331 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3215609 rs770163052 |
333 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA3215608 rs748430843 |
334 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780425307 CA3215586 |
336 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA359304345 rs1192216981 |
337 | D>G | No |
ClinGen TOPMed |
|
|
COSM171818 rs893259614 CA115749025 |
337 | D>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1354492264 CA359304329 |
338 | Y>S | No |
ClinGen gnomAD |
|
|
rs868513733 CA115749024 |
340 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs868513733 CA359304297 |
340 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA359304286 rs1219331258 |
341 | R>* | No |
ClinGen gnomAD |
|
|
CA359304284 COSM3661778 rs1339884733 |
341 | R>Q | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA359304272 rs1416765148 |
342 | R>K | No |
ClinGen TOPMed |
|
|
rs911663752 CA115749023 |
344 | Y>S | No |
ClinGen TOPMed |
|
|
CA3215585 rs182867464 |
345 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA359304218 rs1350292165 |
346 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 346 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359304196 rs1400646461 |
347 | K>R | No |
ClinGen TOPMed |
|
|
CA359304186 rs1322645882 |
348 | V>I | No |
ClinGen gnomAD |
|
|
CA3215582 rs138533676 COSM215980 |
349 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA359304087 rs1464674739 |
353 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs765785020 CA3215579 |
354 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA359304003 rs1481704491 |
358 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3215578 COSM738241 rs375716455 |
358 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA359304001 rs375716455 |
358 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359303988 rs1215834001 |
359 | F>L | No |
ClinGen TOPMed |
|
|
CA3215577 rs766246618 |
360 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 361 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750454682 CA3215575 |
363 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 364 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3215574 rs765253829 |
368 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA359303832 rs1317425758 |
369 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1225345022 CA359303795 |
370 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 370 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_036102 | 371 | V>L | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA115748918 rs970725025 |
372 | K>T | No |
ClinGen TOPMed |
|
|
rs1274114970 CA359303674 |
375 | I>M | No |
ClinGen gnomAD |
|
|
rs140624824 CA3215571 |
376 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3215570 COSM3765191 rs760902420 |
376 | E>D | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 377 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359303617 rs1331684550 |
378 | V>M | No |
ClinGen gnomAD |
|
|
COSM3776615 rs1177955408 CA359303531 |
382 | P>A | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs774894519 CA3215566 |
386 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3215565 rs771365060 |
388 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs780636414 CA3215563 |
393 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs151317371 CA3215562 |
394 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1561130895 CA359303251 |
394 | H>R | No |
ClinGen Ensembl |
|
|
CA115748867 rs865864231 |
394 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs143386410 CA3215561 |
396 | D>N | No |
ClinGen ESP ExAC |
|
|
CA115748841 rs964405219 |
398 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 398 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs976384251 CA115748834 |
399 | V>L | No |
ClinGen Ensembl |
|
|
rs779570072 CA3215560 |
400 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3215558 rs750182968 |
402 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3215559 rs758272487 |
402 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1277867045 CA359303096 |
402 | I>V | No |
ClinGen gnomAD |
|
|
CA3215557 rs765269862 |
404 | G>D | No |
ClinGen ExAC |
|
| TCGA novel | 404 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239203977 CA359303039 |
405 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 405 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM591838 rs757220666 CA3215556 |
409 | R>G | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA359302853 rs1355834784 |
411 | P>R | No |
ClinGen TOPMed |
|
|
rs966812667 CA115748767 |
411 | P>S | No |
ClinGen Ensembl |
|
|
rs966812667 CA115748759 |
411 | P>T | No |
ClinGen Ensembl |
|
|
rs1395027 VAR_028751 CA115748750 |
413 | S>F | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA3215554 rs764279300 |
414 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1448165322 CA359302725 |
416 | S>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 418 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359302675 rs1358025050 |
418 | I>N | No |
ClinGen gnomAD |
|
|
COSM1436914 rs1431341320 CA359301943 |
424 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs770143615 CA3215526 |
424 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA115745193 rs903128657 COSM738243 |
428 | L>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs903128657 CA359301915 |
428 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 430 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760235178 CA3215525 |
431 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs372226944 CA3215524 |
433 | N>H | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1310063595 CA359301862 |
433 | N>S | No |
ClinGen gnomAD |
|
|
CA359301848 rs1215815456 |
434 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA359301851 rs1215815456 |
434 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA115745180 rs866850339 |
435 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs771873502 CA3215523 |
437 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1042728194 CA115745162 |
442 | Y>C | No |
ClinGen TOPMed |
|
|
CA359301733 rs1462771726 |
442 | Y>H | No |
ClinGen TOPMed |
|
|
rs770913066 CA3215520 |
446 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs778672806 CA3215521 |
446 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 448 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359301625 rs1338227500 |
449 | R>G | No |
ClinGen gnomAD |
|
|
CA359301619 rs749021068 |
449 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs749021068 CA3215519 |
449 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA359301586 rs1349525203 |
451 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3215516 rs375518042 |
452 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3215514 rs755023658 |
458 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 458 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs13174039 CA115745075 |
459 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs894221809 CA115745081 |
459 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1226274376 CA359301423 |
460 | I>T | No |
ClinGen TOPMed |
|
|
CA115745052 rs938435391 |
462 | A>G | No |
ClinGen Ensembl |
|
|
rs751846268 CA3215513 |
462 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398866687 CA359301347 |
464 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA3215498 rs200673315 |
465 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359300170 rs1242657197 |
468 | K>E | No |
ClinGen gnomAD |
|
|
rs543755225 CA115739397 |
468 | K>N | No |
ClinGen Ensembl |
|
|
rs1330852894 CA359300136 |
470 | T>A | No |
ClinGen gnomAD |
|
|
CA3215494 COSM1543379 rs145457868 |
470 | T>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3215493 rs750821300 |
471 | T>R | No |
ClinGen ExAC gnomAD |
|
|
COSM337943 CA3215490 rs201738748 |
472 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs201738748 CA3215491 |
472 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1247787 rs544297913 CA3215489 |
472 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3215492 COSM738248 rs201738748 |
472 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs199776417 CA3215487 COSM738249 |
473 | V>M | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs79743241 CA115739361 |
475 | V>G | No |
ClinGen Ensembl |
|
|
rs762565754 CA3215485 |
475 | V>L | No |
ClinGen ExAC gnomAD |
|
| rs1176348287 | 476 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs74795908 CA359300024 CA115739358 |
477 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs77909063 CA115739356 |
480 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA359299927 rs1411150729 |
482 | V>I | No |
ClinGen gnomAD |
|
|
rs971053745 CA115739351 |
483 | N>Y | No |
ClinGen TOPMed |
|
|
CA3215484 rs147882578 |
485 | N>K | No |
ClinGen ESP ExAC |
|
|
rs769547516 CA3215483 |
486 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435256558 COSM183728 CA359299795 |
490 | A>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA359299785 rs1278740027 |
490 | A>V | No |
ClinGen gnomAD |
|
|
CA359299764 rs1177323880 |
493 | Y>D | No |
ClinGen TOPMed |
|
|
CA3215482 rs182395109 |
494 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776564516 CA3215481 |
499 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 500 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3215480 rs544303560 |
501 | A>V | Variant assessed as Somatic; 0.0002775 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747125379 CA3215479 |
503 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA359299622 rs1313523615 |
505 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 506 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 507 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3215460 rs540305296 |
508 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1029079610 CA116016873 |
510 | I>T | No |
ClinGen Ensembl |
|
|
rs1459433654 CA359317464 |
510 | I>V | No |
ClinGen gnomAD |
|
|
rs572992587 CA3215459 |
512 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 518 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 520 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 521 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268349921 CA359317368 COSM218844 |
523 | K>N | Variant assessed as Somatic; 4.635e-05 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA116016867 rs901687201 |
524 | F>I | No |
ClinGen Ensembl |
|
| TCGA novel | 524 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1209448007 | 526 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359317335 rs1360599596 |
528 | L>I | No |
ClinGen TOPMed |
|
|
CA3215453 rs753324374 |
530 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3215452 rs781715216 |
530 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA116016861 rs944908249 |
531 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3215451 rs757864937 |
532 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs139683292 CA3215449 |
538 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1438383625 COSM393713 CA359317273 |
538 | Q>K | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs761409262 CA3215448 |
541 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 541 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359317222 rs1445432155 |
543 | N>H | No |
ClinGen gnomAD |
|
|
CA3215438 rs771222363 |
544 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416655010 CA359317211 |
544 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 545 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866317687 CA116016613 |
546 | R>K | No |
ClinGen Ensembl |
|
|
CA359317201 rs1403080998 |
546 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs866317687 CA116016612 |
546 | R>T | No |
ClinGen Ensembl |
|
| TCGA novel | 549 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA116016610 rs868578853 |
550 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 551 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754722288 | 552 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381645694 CA359317161 |
552 | N>S | No |
ClinGen TOPMed |
|
|
CA3215436 rs770340870 |
553 | G>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748465930 CA3215435 |
554 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA359317134 rs1452893105 |
556 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3215434 rs781558392 |
557 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3215433 rs529342499 |
560 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 565 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359317072 rs1561119113 |
565 | P>T | No |
ClinGen Ensembl |
|
|
rs1231212974 CA359317068 |
566 | V>M | No |
ClinGen gnomAD |
|
|
rs1357497612 CA359317058 |
567 | V>A | No |
ClinGen TOPMed |
|
|
rs778537078 CA3215431 |
572 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 576 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 576 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 578 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA116016597 rs919148268 |
581 | T>I | No |
ClinGen Ensembl |
|
|
CA3215430 COSM1580672 rs756726702 |
583 | T>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA359316947 rs753551926 |
584 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753551926 CA3215429 |
584 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866889055 CA116016592 |
585 | R>* | No |
ClinGen Ensembl |
|
|
rs377661736 CA3215428 |
585 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3215427 rs760475991 |
586 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407551586 CA359316932 |
587 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 588 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752469511 CA3215426 |
592 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs546962797 CA3215425 |
594 | N>D | No |
ClinGen 1000Genomes ExAC |
|
|
rs913258374 CA116016583 |
594 | N>S | No |
ClinGen gnomAD |
|
|
rs1448055370 CA359316871 COSM482701 |
595 | M>I | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3215423 rs774126411 |
599 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1433268057 CA359316842 |
599 | S>I | No |
ClinGen gnomAD |
|
|
rs886707682 CA116016578 |
600 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA359316832 rs1242641853 |
601 | E>K | No |
ClinGen TOPMed |
|
|
CA359316826 rs1362817919 |
602 | A>T | No |
ClinGen gnomAD |
|
|
CA359316812 rs1159512565 |
604 | L>H | No |
ClinGen gnomAD |
|
|
rs200377194 CA3215420 |
606 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1473127917 CA359316796 |
607 | A>S | No |
ClinGen gnomAD |
|
|
CA359316789 rs1489172130 |
608 | G>A | No |
ClinGen gnomAD |
|
|
rs936122146 CA359316791 |
608 | G>R | No |
ClinGen gnomAD |
|
|
rs936122146 CA116016571 |
608 | G>S | No |
ClinGen gnomAD |
|
|
CA3215417 rs777008245 |
610 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1364403854 CA359316774 |
611 | T>P | No |
ClinGen gnomAD |
|
|
CA359316768 rs369284486 |
612 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs369284486 CA116016567 COSM591850 |
612 | G>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
CA359316763 rs1458333938 |
613 | A>T | No |
ClinGen TOPMed |
|
|
CA359316752 rs1393876469 |
614 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs970306300 CA359316742 |
616 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs970306300 CA116016563 |
616 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs139350220 CA3215411 |
618 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139350220 CA3215412 |
618 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359316725 rs1579709960 |
619 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 619 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3721196 rs1278258586 CA359316715 |
620 | C>* | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs755722259 CA3215410 |
623 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1453422176 CA359316689 |
624 | L>P | No |
ClinGen gnomAD |
|
| rs184571175 | 625 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765449654 CA3215385 |
626 | V>A | No |
ClinGen ExAC |
|
|
CA359316667 rs1467740171 |
627 | I>L | No |
ClinGen gnomAD |
|
|
CA359316662 rs1579705403 |
627 | I>M | No |
ClinGen Ensembl |
|
|
CA359316664 rs1347385291 COSM1436904 |
627 | I>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs771711060 CA116015722 |
628 | V>A | No |
ClinGen Ensembl |
|
|
rs200327856 CA3215384 |
628 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776967205 CA3215383 |
632 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs764161207 CA3215382 |
633 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs761101753 CA3215381 |
634 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA359316614 rs1303632078 |
636 | R>K | No |
ClinGen gnomAD |
|
|
rs1399171774 CA359316609 |
637 | Q>K | No |
ClinGen gnomAD |
|
|
CA359316598 rs1402706331 COSM84894 |
638 | R>Q | pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1200834681 CA359316588 |
640 | K>Q | No |
ClinGen TOPMed |
|
|
CA3215378 rs760083492 |
642 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA359316565 rs1561116252 |
643 | L>P | No |
ClinGen Ensembl |
|
|
rs769406878 CA3215376 |
646 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA116015710 rs982045454 |
646 | S>T | No |
ClinGen Ensembl |
|
|
rs780903483 CA3215374 |
648 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359316532 rs1460396142 |
648 | E>G | No |
ClinGen gnomAD |
|
|
rs1176541388 CA359316525 |
649 | D>G | No |
ClinGen gnomAD |
|
|
rs1392910357 CA359316517 |
650 | I>T | No |
ClinGen gnomAD |
|
|
rs746847549 CA3215372 |
651 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1579705150 CA359316488 |
654 | I>T | No |
ClinGen Ensembl |
|
|
CA359316483 rs1249207433 |
655 | V>L | No |
ClinGen gnomAD |
|
|
rs747967376 CA116015700 |
659 | D>E | No |
ClinGen Ensembl |
|
|
rs1434838657 CA359316411 |
665 | E>V | No |
ClinGen TOPMed |
|
|
rs780047745 CA3215371 |
666 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3215370 rs758238763 |
667 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3215369 rs146231810 |
668 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201737578 CA3215367 |
672 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA116015687 rs928939235 |
673 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1579705034 CA359316353 |
674 | T>P | No |
ClinGen Ensembl |
|
|
rs1306362239 CA359316343 |
676 | R>G | No |
ClinGen gnomAD |
|
|
CA3215362 rs767907920 |
679 | A>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 679 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759882971 CA3215360 |
680 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs200154239 CA3215359 |
682 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1373368879 CA359316294 |
683 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| rs1561116064 | 685 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771276034 CA3215358 |
686 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 686 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 686 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM183724 rs1362800287 CA359316268 |
687 | R>Q | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs768194920 CA3215355 COSM1067112 |
687 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3215353 rs779851472 COSM396588 |
688 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs772047494 CA3215352 |
690 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs973320967 CA116015668 |
691 | I>T | No |
ClinGen TOPMed |
|
|
rs543550761 CA116015665 COSM287182 |
694 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA |
|
rs543550761 CA3215351 |
694 | T>R | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 696 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 696 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561115953 CA359316204 |
697 | I>T | No |
ClinGen Ensembl |
|
|
rs1240771068 CA359316207 |
697 | I>V | No |
ClinGen gnomAD |
|
|
rs757099072 CA3215349 COSM591856 |
699 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1579704766 CA359316188 |
700 | R>T | No |
ClinGen Ensembl |
|
|
CA359316173 rs1351685843 |
702 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA359316174 rs1351685843 |
702 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs201104078 CA3215347 |
703 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201104078 CA116015659 |
703 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201104078 CA116015657 |
703 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 705 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756185558 CA3215346 |
705 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1293883738 COSM738262 CA359316144 |
707 | N>K | lung oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA359316141 rs1201250735 |
708 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs560951980 CA3215344 COSM591857 |
710 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1382510928 CA359316121 |
711 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1299821656 CA359316122 |
711 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1383833818 CA359316118 |
712 | D>H | No |
ClinGen gnomAD |
|
|
COSM1567724 rs1156402715 CA359316084 |
716 | E>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs963500072 CA116015646 COSM1436901 |
716 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs759899651 CA3215343 |
717 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751881000 COSM3697200 CA3215342 |
717 | R>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 719 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 720 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359316041 rs1475157962 |
722 | D>V | No |
ClinGen gnomAD |
|
|
rs763423183 CA3215340 |
723 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA116015640 rs267600592 |
724 | D>N | No |
ClinGen Ensembl |
|
|
rs143036065 CA3215339 COSM591859 |
725 | P>R | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA359316026 rs1561115824 |
725 | P>T | No |
ClinGen Ensembl |
|
|
rs1324290206 CA359316018 |
726 | T>N | No |
ClinGen TOPMed |
|
|
CA3215338 rs763581492 |
727 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA359316015 rs763581492 COSM1328853 |
727 | A>T | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA359316011 rs1447900607 |
727 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1261325788 CA359316009 |
728 | P>A | No |
ClinGen gnomAD |
|
|
CA3215336 rs771781685 |
729 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359316001 rs771781685 |
729 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3215335 COSM3721195 rs771781685 |
729 | P>R | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 729 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359315997 rs1232692431 |
730 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA359315995 rs1232692431 |
730 | Y>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 730 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1273877423 | 730 | Y>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359315976 rs1278921667 |
733 | L>F | No |
ClinGen TOPMed |
|
|
rs770736913 CA3215332 |
737 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 740 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777761277 CA3215330 |
741 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs756200941 CA3215329 |
742 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA359315907 rs1394651972 |
743 | S>C | No |
ClinGen gnomAD |
|
|
rs149466992 CA3215328 |
744 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359315852 rs1231747430 |
752 | E>K | No |
ClinGen TOPMed |
|
|
rs755145915 CA3215326 |
754 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3215325 rs572268633 |
755 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3215324 rs766697861 |
756 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1453556101 CA558825951 |
757 | E>V | No |
ClinGen gnomAD |
|
|
CA359315812 rs1253790143 |
758 | G>E | No |
ClinGen gnomAD |
|
|
rs750953239 CA3215322 |
759 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359315810 rs750953239 |
759 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3215321 rs765713854 |
760 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 761 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760264187 CA3215320 |
762 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA359315778 rs1241397517 |
763 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1338586428 CA558825950 |
764 | Y>FF* | No |
ClinGen gnomAD |
|
|
CA359315761 rs1268181259 |
765 | L>H | No |
ClinGen gnomAD |
|
|
rs137884653 CA3215318 |
766 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 767 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 767 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA116015609 rs748959403 |
768 | W>* | No |
ClinGen Ensembl |
|
|
CA359315743 rs1371278745 |
768 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1302183872 CA359315738 |
769 | G>R | No |
ClinGen gnomAD |
|
|
rs774023585 CA3215316 |
771 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770697242 CA3215315 |
774 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs200181507 CA116015603 |
775 | L>V | No |
ClinGen Ensembl |
|
|
rs1021410998 CA116015602 |
778 | M>K | No |
ClinGen Ensembl |
|
|
COSM4006009 CA3215313 rs773029988 |
779 | Y>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA116015598 COSM1671545 rs539090950 |
780 | G>C | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs748250159 CA3215311 |
784 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs769681525 CA3215312 |
784 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA3215310 rs781299917 |
785 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1561115545 CA359315623 |
786 | K>N | No |
ClinGen Ensembl |
|
|
rs373181926 CA116015593 |
786 | K>R | No |
ClinGen ESP |
|
|
CA359315609 rs1452708419 |
788 | S>C | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9Y6N8
No regional properties for Q9Y6N8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9Y6N8 | |||
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| catenin complex | Complex of peripheral cytoplasmic proteins (alpha-, beta- and gamma-catenin) that interact with the cytoplasmic region of uvomorulin/E-cadherin to connect it to the actin cytoskeleton. |
| GABA-ergic synapse | A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| integral component of postsynaptic specialization membrane | The component of the postsynaptic specialization membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of presynaptic active zone membrane | The component of the presynaptic active zone membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| adherens junction organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an adherens junction. An adherens junction is a cell-cell junction composed of the epithelial cadherin-catenin complex at which the cytoplasmic face of the plasma membrane is attached to actin filaments. |
| calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules | The attachment of one cell to another cell via adhesion molecules that require the presence of calcium for the interaction. |
| cell morphogenesis | The developmental process in which the size or shape of a cell is generated and organized. |
| cell-cell adhesion | The attachment of one cell to another cell via adhesion molecules. |
| cell-cell adhesion via plasma-membrane adhesion molecules | The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. |
| cell-cell junction assembly | The aggregation, arrangement and bonding together of a set of components to form a junction between cells. |
| homophilic cell adhesion via plasma membrane adhesion molecules | The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
41 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SWX5 | CDH6 | Cadherin-6 | Bos taurus (Bovine) | PR |
| Q8UVJ7 | CDHR1 | Cadherin-related family member 1 | Gallus gallus (Chicken) | PR |
| P79995 | CDH10 | Cadherin-10 | Gallus gallus (Chicken) | PR |
| Q5DRC8 | PCDHB6 | Protocadherin beta-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE4 | PCDHA8 | Protocadherin alpha-8 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE6 | PCDHA6 | Protocadherin alpha-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRF0 | PCDHA2 | Protocadherin alpha-2 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE7 | PCDHA5 | Protocadherin alpha-5 | Pan troglodytes (Chimpanzee) | PR |
| Q9VJB6 | CadN2 | Putative neural-cadherin 2 | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y5E3 | PCDHB6 | Protocadherin beta-6 | Homo sapiens (Human) | PR |
| Q9Y5F1 | PCDHB12 | Protocadherin beta-12 | Homo sapiens (Human) | PR |
| O60330 | PCDHGA12 | Protocadherin gamma-A12 | Homo sapiens (Human) | PR |
| Q9P2E7 | PCDH10 | Protocadherin-10 | Homo sapiens (Human) | PR |
| Q9Y5I2 | PCDHA10 | Protocadherin alpha-10 | Homo sapiens (Human) | PR |
| Q9Y5H3 | PCDHGA10 | Protocadherin gamma-A10 | Homo sapiens (Human) | PR |
| Q9UN75 | PCDHA12 | Protocadherin alpha-12 | Homo sapiens (Human) | PR |
| Q9Y5I1 | PCDHA11 | Protocadherin alpha-11 | Homo sapiens (Human) | PR |
| Q9Y5H8 | PCDHA3 | Protocadherin alpha-3 | Homo sapiens (Human) | PR |
| Q9Y5H9 | PCDHA2 | Protocadherin alpha-2 | Homo sapiens (Human) | PR |
| Q9UN73 | PCDHA6 | Protocadherin alpha-6 | Homo sapiens (Human) | PR |
| Q9Y5H6 | PCDHA8 | Protocadherin alpha-8 | Homo sapiens (Human) | PR |
| Q9UN74 | PCDHA4 | Protocadherin alpha-4 | Homo sapiens (Human) | PR |
| Q9UN72 | PCDHA7 | Protocadherin alpha-7 | Homo sapiens (Human) | PR |
| Q9Y5H7 | PCDHA5 | Protocadherin alpha-5 | Homo sapiens (Human) | PR |
| Q9Y5G4 | PCDHGA9 | Protocadherin gamma-A9 | Homo sapiens (Human) | PR |
| Q9Y5G0 | PCDHGB5 | Protocadherin gamma-B5 | Homo sapiens (Human) | PR |
| Q9ULB4 | CDH9 | Cadherin-9 | Homo sapiens (Human) | PR |
| Q6ZTQ4 | CDHR3 | Cadherin-related family member 3 | Homo sapiens (Human) | PR |
| P12830 | CDH1 | Cadherin-1 | Homo sapiens (Human) | PR |
| Q9H159 | CDH19 | Cadherin-19 | Homo sapiens (Human) | PR |
| P19022 | CDH2 | Cadherin-2 | Homo sapiens (Human) | PR |
| P55285 | CDH6 | Cadherin-6 | Homo sapiens (Human) | PR |
| P09803 | Cdh1 | Cadherin-1 | Mus musculus (Mouse) | PR |
| P15116 | Cdh2 | Cadherin-2 | Mus musculus (Mouse) | PR |
| P70407 | Cdh9 | Cadherin-9 | Mus musculus (Mouse) | PR |
| P97326 | Cdh6 | Cadherin-6 | Mus musculus (Mouse) | PR |
| Q8VHF2 | Cdhr5 | Cadherin-related family member 5 | Mus musculus (Mouse) | PR |
| P70408 | Cdh10 | Cadherin-10 | Mus musculus (Mouse) | PR |
| P55280 | Cdh6 | Cadherin-6 | Rattus norvegicus (Rat) | PR |
| Q9Z1Y3 | Cdh2 | Cadherin-2 | Rattus norvegicus (Rat) | PR |
| Q767I8 | Pcdha4 | Protocadherin alpha-4 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTIHQFLLLF | LFWVCLPHFC | SPEIMFRRTP | VPQQRILSSR | VPRSDGKILH | RQKRGWMWNQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FFLLEEYTGS | DYQYVGKLHS | DQDKGDGSLK | YILSGDGAGT | LFIIDEKTGD | IHATRRIDRE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EKAFYTLRAQ | AINRRTLRPV | EPESEFVIKI | HDINDNEPTF | PEEIYTASVP | EMSVVGTSVV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QVTATDADDP | SYGNSARVIY | SILQGQPYFS | VEPETGIIRT | ALPNMNRENR | EQYQVVIQAK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DMGGQMGGLS | GTTTVNITLT | DVNDNPPRFP | QNTIHLRVLE | SSPVGTAIGS | VKATDADTGK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NAEVEYRIID | GDGTDMFDIV | TEKDTQEGII | TVKKPLDYES | RRLYTLKVEA | ENTHVDPRFY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YLGPFKDTTI | VKISIEDVDE | PPVFSRSSYL | FEVHEDIEVG | TIIGTVMARD | PDSISSPIRF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SLDRHTDLDR | IFNIHSGNGS | LYTSKPLDRE | LSQWHNLTVI | AAEINNPKET | TRVAVFVRIL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DVNDNAPQFA | VFYDTFVCEN | ARPGQLIQTI | SAVDKDDPLG | GQKFFFSLAA | VNPNFTVQDN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EDNTARILTR | KNGFNRHEIS | TYLLPVVISD | NDYPIQSSTG | TLTIRVCACD | SQGNMQSCSA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EALLLPAGLS | TGALIAILLC | IIILLVIVVL | FAALKRQRKK | EPLILSKEDI | RDNIVSYNDE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GGGEEDTQAF | DIGTLRNPAA | IEEKKLRRDI | IPETLFIPRR | TPTAPDNTDV | RDFINERLKE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| HDLDPTAPPY | DSLATYAYEG | NDSIAESLSS | LESGTTEGDQ | NYDYLREWGP | RFNKLAEMYG |
| GGESDKDS |