Q14C87
PR
Gene name |
TMEM132D (HBE120, KIAA1944, MOLT) |
Protein name |
Transmembrane protein 132D |
Names |
Mature oligodendrocytes transmembrane protein, Mature OL transmembrane protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:121256 |
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 Q14C87
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q14C87-F1 | Predicted | AlphaFoldDB |
988 variants for Q14C87
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs138430861 CA6876469 |
3 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387318963 rs138430861 |
3 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1456386051 CA387318949 |
5 | E>D | No |
ClinGen gnomAD |
|
|
rs755079398 CA6876468 |
7 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA246033878 rs537539320 |
7 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1376813761 CA387318934 |
8 | T>A | No |
ClinGen gnomAD |
|
|
rs1196691249 CA387318918 |
10 | W>C | No |
ClinGen gnomAD |
|
|
CA387318915 rs1430170808 |
11 | H>Y | No |
ClinGen gnomAD |
|
|
CA6876465 rs142888394 |
12 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6876466 rs142888394 |
12 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA246033876 rs888273755 |
14 | S>L | No |
ClinGen TOPMed |
|
|
CA387318884 rs1266523083 |
15 | P>A | No |
ClinGen gnomAD |
|
|
rs1025938059 CA246033875 |
15 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1025938059 CA387318881 |
15 | P>R | No |
ClinGen TOPMed |
|
|
CA387318866 rs1324789026 |
18 | I>F | No |
ClinGen TOPMed |
|
|
rs993829991 CA246033874 |
19 | S>C | No |
ClinGen Ensembl |
|
|
CA387318843 rs1231726027 |
21 | A>V | No |
ClinGen gnomAD |
|
|
rs1344853283 CA387318816 |
26 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 27 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748541998 CA6876453 |
30 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200165436 CA246009591 |
31 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
rs772287552 CA6876452 |
31 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769174210 CA6876451 |
33 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 34 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA246009590 rs914834617 |
34 | L>P | No |
ClinGen TOPMed |
|
|
CA6876450 rs749357494 |
35 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA246009589 rs994956225 |
36 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs994956225 CA246009588 |
36 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748195858 CA246009587 |
38 | Q>* | No |
ClinGen Ensembl |
|
|
CA387318661 rs1473164854 |
38 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs900704857 CA246009586 |
40 | F>L | No |
ClinGen Ensembl |
|
|
rs1333522439 CA387318642 |
41 | S>P | No |
ClinGen TOPMed |
|
|
rs756339901 CA387318632 |
42 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387318627 rs1335883007 |
43 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA387318622 rs1565954481 |
44 | P>H | No |
ClinGen Ensembl |
|
|
CA387318619 rs1205088610 |
45 | T>P | No |
ClinGen gnomAD |
|
|
rs1205088610 CA387318617 |
45 | T>S | No |
ClinGen gnomAD |
|
|
CA387318610 rs1593126233 |
46 | Y>S | No |
ClinGen Ensembl |
|
|
rs1593126231 CA387318601 |
47 | L>P | No |
ClinGen Ensembl |
|
|
CA387318599 rs1482320452 |
48 | P>S | No |
ClinGen gnomAD |
|
|
CA387318593 rs1209970085 |
49 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1593126223 CA387318587 |
50 | T>P | No |
ClinGen Ensembl |
|
|
CA6876446 rs550818387 |
52 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757054637 CA387318563 |
53 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs757054637 CA6876445 |
53 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA387318565 rs1483250888 |
53 | I>V | No |
ClinGen TOPMed |
|
|
rs751351350 CA6876444 |
54 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA387318547 rs763982639 |
55 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1360061 rs1287424489 CA387318544 |
56 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6876442 rs372764040 |
56 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1406077872 CA387318531 |
58 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs776494246 CA6876439 |
62 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6876436 rs762124471 |
64 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs769064382 CA6876434 |
65 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs774737688 CA6876435 |
65 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA246009583 rs769064382 |
65 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6876433 rs749744278 |
67 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA387318471 rs1249017301 |
67 | Q>R | No |
ClinGen gnomAD |
|
|
rs775549426 CA6876432 |
69 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA387318446 rs1565954416 |
70 | M>I | No |
ClinGen Ensembl |
|
|
CA387318442 rs1297284586 |
71 | R>K | No |
ClinGen TOPMed |
|
|
rs1593126150 CA387318434 |
72 | N>T | No |
ClinGen Ensembl |
|
|
CA387318419 rs1210227609 |
74 | S>N | No |
ClinGen gnomAD |
|
|
rs768905532 CA246009582 |
76 | Q>H | No |
ClinGen gnomAD |
|
|
CA6876428 rs757474690 |
78 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387318394 rs757474690 |
78 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387318392 rs1369441864 |
79 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA387318393 rs1369441864 |
79 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6876426 rs777579349 |
85 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA387318335 rs1458881786 |
87 | S>Y | No |
ClinGen gnomAD |
|
|
CA6876424 rs78136296 RCV000961187 |
90 | L>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs765263700 COSM203640 CA6876423 |
91 | P>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6876422 rs151244831 |
92 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 93 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6876421 rs753367278 |
94 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA246009580 rs1043198385 |
96 | S>N | No |
ClinGen Ensembl |
|
|
rs1250605423 CA608516404 |
98 | G>EEKQWDPDRPQ* | No |
ClinGen gnomAD |
|
| TCGA novel | 98 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387318243 rs1257026049 |
102 | I>V | No |
ClinGen TOPMed |
|
|
rs1026943926 CA246009579 CA387318232 |
103 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs764450706 CA6876417 |
103 | E>G | No |
ClinGen ExAC |
|
| TCGA novel | 108 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA246009578 rs897022327 |
109 | D>N | No |
ClinGen TOPMed |
|
|
rs1213177559 CA387318176 |
111 | M>I | No |
ClinGen gnomAD |
|
|
rs1565954334 CA387318181 |
111 | M>L | No |
ClinGen Ensembl |
|
| TCGA novel | 111 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 111 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6876415 rs143257185 |
112 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776735949 CA6876413 |
113 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA387318168 rs1170116093 |
113 | P>S | No |
ClinGen TOPMed |
|
|
rs149110436 CA6876411 |
115 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6876410 rs777436470 |
116 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 116 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA246009577 rs889536300 |
120 | T>S | No |
ClinGen TOPMed |
|
|
CA387318109 rs1320179805 |
122 | K>T | No |
ClinGen gnomAD |
|
|
CA246009576 rs938612243 |
124 | S>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 126 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6876407 rs779042688 |
128 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6876406 rs372360969 |
130 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 131 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387318034 rs1393866756 |
133 | I>V | No |
ClinGen gnomAD |
|
|
CA387318023 rs138159153 |
135 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6876403 rs537402455 |
135 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138159153 CA6876404 |
135 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750154716 CA6876402 |
136 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1293264537 CA387318013 |
137 | K>Q | No |
ClinGen TOPMed |
|
|
rs1483997807 CA387317999 |
139 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1593126025 CA387317996 |
139 | Y>S | No |
ClinGen Ensembl |
|
|
rs554016557 CA6876401 |
141 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs753025858 CA6876399 |
141 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA246009573 rs759991422 |
142 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA6876397 rs759991422 |
142 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs368850505 CA6876398 |
142 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1229002861 CA387317978 |
143 | P>A | No |
ClinGen gnomAD |
|
|
CA387317977 rs1229002861 |
143 | P>S | No |
ClinGen gnomAD |
|
|
CA387317971 rs1250457855 |
144 | K>E | No |
ClinGen TOPMed |
|
|
CA6876396 rs145300929 |
146 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6876395 rs770979897 |
147 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA387317926 rs1186441702 |
150 | H>Q | No |
ClinGen TOPMed |
|
|
rs1213030816 CA387317930 |
150 | H>R | No |
ClinGen gnomAD |
|
|
CA387317925 rs760667560 |
151 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs749589095 CA6876393 |
151 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6876394 rs760667560 |
151 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs747987418 CA6876391 |
152 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA387317903 rs1373997516 |
154 | R>T | No |
ClinGen gnomAD |
|
|
rs372489586 CA6876389 |
155 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA6876390 rs778801506 |
155 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs568937580 CA6876388 |
156 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs139627769 CA387317878 |
157 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1268012 rs755706078 CA387317868 |
159 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6876385 COSM175469 rs749875520 |
159 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs755706078 CA6876386 |
159 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1593125985 CA387317864 |
160 | S>G | No |
ClinGen Ensembl |
|
|
CA246009571 rs201922398 |
160 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387317856 rs1474120462 |
161 | A>S | No |
ClinGen gnomAD |
|
|
rs765530661 CA6876381 |
162 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149686713 CA6876382 |
162 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1482648900 CA387317845 |
163 | E>G | No |
ClinGen gnomAD |
|
|
CA246009570 rs1018201450 |
163 | E>K | No |
ClinGen Ensembl |
|
|
CA6876380 rs760044429 |
164 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754437645 CA6876379 |
164 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766785498 CA6876378 |
165 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1313754651 CA387317826 |
166 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6876376 rs773136227 |
167 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6876375 rs767873622 |
169 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA246009568 rs916013174 |
171 | F>L | No |
ClinGen TOPMed |
|
|
rs762069517 CA6876374 |
171 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774291074 CA6876373 |
173 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA387317786 rs1459027305 |
173 | F>S | No |
ClinGen gnomAD |
|
|
CA246009567 rs756275076 |
174 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6876371 rs749019418 |
174 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs749019418 COSM1511237 CA387317780 |
174 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA387317772 rs775543841 |
175 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769583722 CA6876369 |
176 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1593125929 CA387317771 |
176 | T>P | No |
ClinGen Ensembl |
|
|
CA387317747 rs756920052 |
180 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387317746 rs1489525939 COSM1360060 |
180 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6876366 rs756920052 |
180 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6876364 rs777401628 |
181 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746600568 CA6876365 |
181 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA246009566 rs150508783 |
182 | S>N | No |
ClinGen ESP gnomAD |
|
|
CA6876363 rs755395380 |
182 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA387317735 rs150508783 |
182 | S>T | No |
ClinGen ESP gnomAD |
|
|
CA6876361 rs766949843 |
184 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756539559 CA6876360 |
184 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766949843 CA6876362 |
184 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1388980382 CA387317718 |
186 | Q>K | No |
ClinGen gnomAD |
|
|
rs1593125895 CA387317701 |
188 | D>G | No |
ClinGen Ensembl |
|
|
rs369816529 CA6876359 |
188 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376516242 CA246009565 |
192 | C>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387317679 rs1593125883 |
192 | C>G | No |
ClinGen Ensembl |
|
|
CA387317671 rs1593125879 |
193 | V>G | No |
ClinGen Ensembl |
|
|
CA387317672 rs1456546378 |
193 | V>L | No |
ClinGen gnomAD |
|
|
CA246009564 rs994058307 |
195 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA387317638 rs1351498277 |
198 | L>P | No |
ClinGen TOPMed |
|
|
CA6876353 rs567417287 |
201 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387317596 rs1467173812 |
204 | S>I | No |
ClinGen gnomAD |
|
|
CA6876348 rs141605203 |
205 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746510617 CA6876347 |
205 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6876349 rs141605203 |
205 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141605203 CA6876350 |
205 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387317591 rs777453627 |
206 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757956994 CA6876345 |
206 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757956994 CA387317589 |
206 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777453627 CA246009561 |
206 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777453627 CA6876346 |
206 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs747811524 | 207 | T>H | Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6876340 COSM1476324 rs750957356 |
207 | T>M | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs919599027 CA246009560 |
209 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA387317575 rs1366703999 |
209 | V>I | No |
ClinGen gnomAD |
|
|
rs751657289 CA6876337 |
210 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs763034196 CA6876335 |
211 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6876336 COSM139980 rs764438255 |
211 | G>R | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1377046137 CA387317557 |
212 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs531652243 CA6876333 |
213 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6876332 rs759373256 |
214 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424393435 CA387317542 |
215 | S>T | No |
ClinGen TOPMed |
|
|
CA6876331 COSM1268023 rs776611618 |
216 | V>M | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs770835628 CA6876330 |
217 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 218 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6876328 COSM76754 rs146143180 |
219 | P>L | ovary central_nervous_system prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA246009558 rs866785376 |
219 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs560680235 CA246009557 |
222 | T>A | No |
ClinGen Ensembl |
|
|
CA387317497 rs1343710010 |
222 | T>N | No |
ClinGen gnomAD |
|
|
CA6876321 rs757795019 |
224 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA387317487 rs781773967 |
224 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6876322 rs781773967 COSM164979 |
224 | V>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM318126 rs1335770243 CA387317461 |
228 | Y>H | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA387317451 rs1232986750 |
229 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs571968299 CA6876318 |
230 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200646338 CA6876319 COSM2228133 |
230 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6876317 rs765486372 |
233 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765486372 CA387317427 |
233 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6876316 rs765486372 |
233 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745657278 CA246009554 |
234 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA246009553 rs894525700 |
234 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 236 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6876314 rs560334536 |
236 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760557702 CA6876312 |
237 | G>E | No |
ClinGen ExAC |
|
|
CA6876313 rs766335074 |
237 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs771547895 CA6876310 |
238 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1275976489 CA387317385 |
240 | V>A | No |
ClinGen gnomAD |
|
|
CA387317387 rs1313552966 |
240 | V>F | No |
ClinGen gnomAD |
|
|
rs1313552966 CA387317389 |
240 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387317381 rs1194795519 |
241 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA387317378 rs1336841692 |
241 | R>S | No |
ClinGen gnomAD |
|
|
CA387317362 rs76591377 |
243 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6876305 rs368282993 |
244 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6876307 rs138850997 |
244 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6876306 rs138850997 |
244 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3772307 rs368282993 CA246009552 |
244 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs747455279 CA6876303 |
246 | R>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 247 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351092800 CA387317332 |
248 | N>S | No |
ClinGen gnomAD |
|
|
CA246009550 rs892889748 |
251 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6876301 rs758468852 |
251 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM692306 CA246009549 rs892889748 |
251 | R>W | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA246009548 rs375376759 |
252 | T>A | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 253 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1462111544 CA387317295 COSM318125 |
255 | S>G | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6876299 rs779045364 |
255 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA387317284 rs1171888830 |
256 | D>G | No |
ClinGen gnomAD |
|
|
CA387317279 rs1186337775 |
257 | I>V | No |
ClinGen gnomAD |
|
|
CA6876297 rs753657574 |
258 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1253234057 CA387317273 |
258 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA387317269 rs753657574 |
258 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA387317266 rs1435586775 |
259 | E>K | No |
ClinGen gnomAD |
|
|
CA6876295 rs750383951 |
261 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6876294 rs750383951 |
261 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773867246 CA6876293 |
262 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs763673817 CA6876290 |
262 | P>L | No |
ClinGen ExAC |
|
|
rs773867246 CA6876291 |
262 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM3980895 rs773867246 CA6876292 |
262 | P>T | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA387317241 rs867202541 |
263 | P>H | No |
ClinGen gnomAD |
|
|
CA246009547 rs867202541 |
263 | P>L | No |
ClinGen gnomAD |
|
|
CA387317242 rs1230056131 |
263 | P>S | No |
ClinGen gnomAD |
|
|
CA6876289 rs762633426 |
264 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777142811 CA6876288 |
265 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs771491672 CA6876287 |
269 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6876286 rs747370024 |
269 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6876285 rs773645660 |
271 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA246009545 rs931260332 |
274 | Q>H | No |
ClinGen Ensembl |
|
|
rs1459181834 CA387317168 |
274 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1409108619 CA387317156 |
276 | H>P | No |
ClinGen gnomAD |
|
|
CA6876283 rs748207970 |
277 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1474287833 CA387317148 |
277 | R>K | No |
ClinGen TOPMed |
|
|
CA387317139 rs1166408212 |
278 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 283 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6876280 rs140913010 |
283 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 284 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757165933 CA6876275 |
285 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6876274 rs751041490 COSM1360056 |
285 | R>H | lung Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs763628074 CA6876273 |
286 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1277152813 CA387317084 |
288 | N>H | No |
ClinGen gnomAD |
|
|
rs942395156 CA246009543 |
290 | V>M | No |
ClinGen Ensembl |
|
|
CA6876272 rs762551850 |
292 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370302809 CA387317032 |
295 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 295 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 298 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 299 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 299 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387316976 rs147671149 CA6876267 |
303 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM146022 CA246009540 rs553796623 |
304 | V>M | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6876262 rs780294945 |
312 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1340104992 CA387316899 |
316 | T>A | No |
ClinGen gnomAD |
|
|
rs780979480 CA387316888 |
317 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1205688686 CA387316882 |
318 | D>G | No |
ClinGen TOPMed |
|
|
CA6876258 rs370621503 |
319 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1281009371 COSM936948 CA387316875 |
319 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1347256619 CA387316859 |
322 | L>M | No |
ClinGen gnomAD |
|
| rs765924223 | 323 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387316850 rs1301254105 |
323 | R>K | No |
ClinGen gnomAD |
|
|
rs1167890240 CA387316813 |
324 | A>T | No |
ClinGen gnomAD |
|
|
rs762276606 CA6876232 |
326 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA387316790 rs1418112190 |
327 | K>R | No |
ClinGen gnomAD |
|
|
CA387316777 rs1470547074 |
329 | G>R | No |
ClinGen TOPMed |
|
|
CA6876230 rs764607174 |
330 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387316763 rs1566100636 |
331 | N>T | No |
ClinGen Ensembl |
|
|
CA387316751 rs1303558626 |
333 | I>V | No |
ClinGen TOPMed |
|
|
CA6876228 rs775549321 |
334 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA245988191 rs376182162 |
334 | G>S | No |
ClinGen ESP gnomAD |
|
|
CA6876227 rs200358369 |
335 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759524697 CA6876226 |
336 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 339 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA245988189 rs892145164 |
339 | S>N | No |
ClinGen Ensembl |
|
|
rs771032378 CA6876224 |
340 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs776963282 CA6876225 |
340 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6876223 rs746834848 |
342 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA245988188 rs1038281974 |
343 | W>R | No |
ClinGen TOPMed |
|
|
rs777663702 CA6876222 |
344 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs540786652 CA245988187 |
347 | E>G | No |
ClinGen Ensembl |
|
|
COSM459611 rs772149560 CA6876220 |
348 | R>C | cervix [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs181556630 CA6876218 |
348 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs181556630 CA6876219 |
348 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6876217 rs116456206 |
349 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779786583 CA387316631 |
352 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779786583 CA6876215 |
352 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274065843 CA387316626 |
353 | G>A | No |
ClinGen gnomAD |
|
|
rs751930095 CA6876213 |
355 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs980488721 CA245988186 |
356 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6876212 rs764372217 |
357 | P>R | No |
ClinGen ExAC |
|
|
CA6876211 rs758754781 |
358 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA245988184 rs922339154 |
361 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA245988183 rs922339154 |
361 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs202052553 CA6876209 |
362 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs552446048 CA6876208 |
364 | K>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs144926631 CA6876207 |
367 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760922461 CA6876205 |
368 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235923734 CA387316532 |
368 | G>V | No |
ClinGen gnomAD |
|
|
CA6876204 rs773146156 |
369 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438176829 CA387316523 |
370 | E>G | No |
ClinGen gnomAD |
|
|
rs1390578802 COSM3703957 CA387316505 |
372 | S>I | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1390578802 CA387316507 |
372 | S>N | No |
ClinGen gnomAD |
|
|
CA387316481 rs1593342482 |
372 | S>R | No |
ClinGen Ensembl |
|
|
rs749108405 CA6876179 |
373 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749108405 CA387316475 |
373 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs149909262 CA245963544 |
374 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs775490465 CA6876178 |
375 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6876177 rs769349159 |
376 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs745357035 CA6876176 |
378 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6876175 rs780865286 |
379 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6876174 rs748570831 |
381 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6876173 rs748570831 |
381 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779092797 CA6876172 |
382 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1014277299 CA245963543 |
384 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA387316397 rs1421739048 |
385 | V>A | No |
ClinGen gnomAD |
|
|
CA387316401 rs1177270048 |
385 | V>M | No |
ClinGen gnomAD |
|
|
rs1167635106 CA387316390 |
386 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA387316382 rs1593342432 |
387 | V>G | No |
ClinGen Ensembl |
|
|
rs754370941 CA6876170 |
389 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1257490372 CA387316373 |
389 | E>K | No |
ClinGen gnomAD |
|
|
rs756313662 CA6876168 |
390 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6876169 rs756313662 |
390 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA387316354 rs1337101673 |
392 | D>A | No |
ClinGen gnomAD |
|
|
CA6876166 rs767873541 |
392 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6876167 rs201444385 |
392 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA245963542 rs1004039552 |
395 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 398 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6876164 rs373096293 |
399 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA387316307 rs1291399865 |
400 | T>M | No |
ClinGen gnomAD |
|
|
rs1444214466 CA387316282 |
403 | V>G | No |
ClinGen gnomAD |
|
|
rs1329689425 CA387316281 |
404 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1375411639 CA387316269 |
405 | Y>C | No |
ClinGen TOPMed |
|
|
rs1593342397 CA387316271 |
405 | Y>D | No |
ClinGen Ensembl |
|
|
CA387316259 rs1398424696 |
407 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs775335868 CA6876161 |
408 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167342027 CA387316253 |
408 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA387316252 rs1167342027 |
408 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1417539785 CA387316242 |
409 | I>T | No |
ClinGen gnomAD |
|
|
rs1271494578 CA387316234 COSM936944 |
410 | T>M | Variant assessed as Somatic; impact. endometrium urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1471407234 CA387316237 |
410 | T>S | No |
ClinGen gnomAD |
|
|
CA245963540 rs996976215 |
412 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 412 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6876157 rs770588397 |
414 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387316213 rs1435548858 |
414 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 415 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746576533 CA6876156 |
416 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1270976908 CA387316197 |
417 | K>E | No |
ClinGen gnomAD |
|
|
CA387316166 rs1410501563 |
421 | S>N | No |
ClinGen TOPMed |
|
|
CA387316163 rs1278851532 |
421 | S>R | No |
ClinGen gnomAD |
|
|
CA245963538 rs1041073236 |
421 | S>R | No |
ClinGen Ensembl |
|
|
CA387316159 rs1238483581 |
422 | P>A | No |
ClinGen gnomAD |
|
|
rs1441829853 CA387316149 |
423 | K>N | No |
ClinGen gnomAD |
|
|
CA387316151 COSM692312 rs1328208259 |
423 | K>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA387316146 rs1593342338 |
424 | D>N | No |
ClinGen Ensembl |
|
|
CA387316134 rs1394219771 |
425 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs768587510 CA245963537 |
425 | L>W | No |
ClinGen Ensembl |
|
|
CA6876152 rs780735174 |
426 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM547037 rs750542701 CA6876150 |
429 | V>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1437316426 CA387316105 |
430 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387316108 rs1407877834 |
430 | P>S | No |
ClinGen TOPMed |
|
|
rs1566037571 CA387316097 |
432 | A>S | No |
ClinGen Ensembl |
|
|
rs947436764 CA245963536 |
433 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6876148 rs757404179 |
433 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387316092 rs947436764 |
433 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA245947507 rs954155034 |
434 | E>G | No |
ClinGen Ensembl |
|
|
rs1429277696 CA387316058 |
435 | A>T | No |
ClinGen TOPMed |
|
|
CA245947506 VAR_053887 rs12816729 |
436 | E>Q | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs761457751 CA6876119 |
438 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA387316040 rs761457751 |
438 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA245947505 rs998182535 |
440 | T>A | No |
ClinGen Ensembl |
|
|
rs1356891229 CA387316025 |
440 | T>I | No |
ClinGen gnomAD |
|
|
rs542724460 CA6876117 |
441 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771427502 CA6876114 |
444 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6876115 rs771427502 |
444 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6876113 rs747083531 |
446 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM203567 rs777853273 CA6876112 |
446 | K>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6876111 rs758554505 |
447 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779098238 CA6876109 |
448 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6876108 rs139782347 |
449 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6876107 rs146364034 COSM108533 |
449 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6876105 rs184779750 |
450 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6876104 rs749902327 |
451 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6876103 rs543802489 |
451 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749902327 CA387315969 |
451 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387315946 rs1216715076 |
455 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6876099 rs375620383 |
457 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA387315915 rs192830664 |
459 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1462851403 CA387315918 |
459 | D>G | No |
ClinGen gnomAD |
|
|
rs777085330 CA6876098 |
459 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs12815188 CA387315908 |
460 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA245947502 VAR_053888 rs12816538 |
460 | D>H | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
rs12816538 CA387315914 |
460 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs12816538 CA387315913 |
460 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA387315907 rs1410065607 |
461 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA387315900 rs1480988229 |
462 | T>A | No |
ClinGen gnomAD |
|
|
rs534868390 CA245947501 |
465 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6876094 rs371059619 |
466 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868619372 CA245947500 |
466 | L>R | No |
ClinGen Ensembl |
|
|
CA6876093 rs371059619 |
466 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387315871 rs1244496092 |
467 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1320509076 CA387315861 |
469 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 469 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6876090 rs749093143 |
470 | V>L | No |
ClinGen ExAC |
|
| TCGA novel | 471 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6876088 rs755853886 |
473 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs909283708 CA245947499 COSM1360042 |
474 | S>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA387315827 rs1391916799 |
474 | S>P | No |
ClinGen TOPMed |
|
|
CA387315798 rs1434738146 |
478 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA387315796 rs1434738146 |
478 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1593296977 CA387315791 |
479 | V>G | No |
ClinGen Ensembl |
|
|
rs756867549 CA6876085 |
479 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751072517 CA6876084 |
481 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6876047 rs747010709 |
482 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 484 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777841506 CA6876046 |
485 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA387247508 rs1171615079 |
485 | R>T | No |
ClinGen gnomAD |
|
|
CA387247500 rs1565958202 |
486 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1261683275 CA387247497 |
487 | D>N | No |
ClinGen gnomAD |
|
|
CA387247482 rs758032089 |
488 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148352740 CA6876043 |
489 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1254791418 CA387247459 |
492 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA387247457 rs1254791418 |
492 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1565958190 CA387247443 |
494 | K>R | No |
ClinGen Ensembl |
|
|
COSM1229546 CA245338138 rs1005734362 |
495 | E>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA387247429 rs1198218708 |
496 | M>T | No |
ClinGen gnomAD |
|
|
CA245338137 rs201719802 |
497 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 500 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387247395 rs1252189256 |
501 | N>D | No |
ClinGen TOPMed |
|
|
CA6876041 rs750815479 |
501 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6876042 rs778662022 |
501 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1175981657 CA387247387 |
502 | V>A | No |
ClinGen TOPMed |
|
|
COSM936935 CA6876039 rs767934327 |
502 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 504 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387247369 rs1249975125 |
505 | N>I | No |
ClinGen TOPMed |
|
| TCGA novel | 506 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752106236 CA6876037 |
507 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1593254315 CA387247358 |
507 | T>P | No |
ClinGen Ensembl |
|
|
CA387247350 rs1333673533 |
508 | Y>S | No |
ClinGen gnomAD |
|
|
rs1467455333 CA387247331 |
510 | H>Q | No |
ClinGen gnomAD |
|
|
CA387247335 rs1394336943 |
510 | H>Y | No |
ClinGen gnomAD |
|
|
CA387247319 rs1332240310 |
512 | S>N | No |
ClinGen gnomAD |
|
|
CA387247317 rs763124843 |
512 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775382777 CA6876034 |
513 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6876033 rs765508753 |
514 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM430719 rs376007280 CA6876031 |
518 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs746779283 CA6876028 |
520 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA6876027 rs199883487 |
521 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA245338007 rs766366335 |
522 | P>A | No |
ClinGen Ensembl |
|
|
CA387247253 rs144267550 |
523 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369239393 COSM936934 CA6876025 |
523 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6876026 rs144267550 |
523 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6876024 rs778232035 |
526 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1349394123 CA387247230 |
527 | Q>R | No |
ClinGen TOPMed |
|
|
CA6876022 rs748949588 |
529 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6876021 rs779654730 |
530 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs779654730 CA387247209 |
530 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA387247211 rs1446243989 |
530 | V>I | No |
ClinGen gnomAD |
|
|
CA6876018 rs764607310 |
532 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6876019 rs545364344 |
532 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs79067456 CA6876015 CA6876014 |
534 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6876016 rs752825227 COSM131147 |
534 | E>K | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA387247184 rs1177455755 |
535 | L>F | No |
ClinGen gnomAD |
|
|
rs990316526 CA245337976 |
536 | N>H | No |
ClinGen Ensembl |
|
|
rs929464545 CA387247123 |
543 | V>A | No |
ClinGen TOPMed |
|
|
CA245337964 rs929464545 |
543 | V>G | No |
ClinGen TOPMed |
|
|
CA6876012 rs766678401 |
544 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593254248 CA387247114 |
545 | I>L | No |
ClinGen Ensembl |
|
|
rs542855447 CA6876009 |
546 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs867767964 CA245337935 |
549 | R>K | No |
ClinGen Ensembl |
|
| rs1176352179 | 550 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387247066 rs1176352179 |
550 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs371513296 CA6875985 |
552 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780885403 COSM1268022 CA6875982 |
553 | G>E | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs148801176 CA6875983 |
553 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144217964 CA6875981 RCV000954284 |
554 | D>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA245336074 rs911620785 |
554 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6875980 rs748515321 |
555 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1239221418 CA387247031 |
556 | E>D | No |
ClinGen gnomAD |
|
|
rs1210889863 CA387247028 |
557 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1442103827 CA387247021 |
558 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs550150452 CA6875979 |
559 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6875978 rs374091589 |
559 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA245336018 rs968656736 |
560 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1278126758 CA387247003 |
560 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs374617296 CA6875977 |
560 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387246993 rs1357904653 |
562 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1022917530 CA387246984 |
563 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1022917530 CA245335994 |
563 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6875974 rs780219290 |
563 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330414801 CA387246981 |
564 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 566 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750720403 CA6875973 |
566 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773830615 CA6875971 |
566 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs750720403 CA6875972 |
566 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414407354 COSM1322651 CA387246964 |
567 | G>S | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1200686717 CA387246926 |
572 | Y>* | No |
ClinGen gnomAD |
|
|
rs1458505012 CA387246915 |
574 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 575 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387246908 rs775400147 |
575 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6875966 rs775400147 |
575 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs372456663 CA6875964 |
576 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6875961 rs748485513 |
577 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs770577561 CA6875963 |
577 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770577561 CA6875962 |
577 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774723649 COSM1360039 CA6875960 |
578 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1280927732 COSM169154 CA387246892 |
578 | R>W | large_intestine Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6875958 rs369491698 COSM1360038 |
581 | T>M | large_intestine Variant assessed as Somatic; impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs527912776 CA6875956 |
582 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387246864 rs1163944756 |
583 | F>V | No |
ClinGen gnomAD |
|
|
CA387246846 rs1404850123 |
586 | E>Q | No |
ClinGen gnomAD |
|
|
rs781288914 CA6875954 |
587 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751315367 CA6875952 |
588 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758174835 CA6875950 |
589 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387246819 rs1287609407 |
590 | P>L | No |
ClinGen gnomAD |
|
|
rs752682400 CA6875949 |
590 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA387246818 rs1240233069 |
591 | G>R | No |
ClinGen gnomAD |
|
|
CA6875947 rs759077899 |
592 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387246811 rs1306572314 |
592 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 594 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6875946 rs776158950 |
594 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA387246790 rs1160967588 |
595 | A>V | No |
ClinGen TOPMed |
|
|
CA387246782 rs1346893730 |
596 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1456385223 CA387246789 |
596 | H>Y | No |
ClinGen gnomAD |
|
|
rs765964950 CA6875945 |
599 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1379936658 CA387246732 |
604 | V>A | No |
ClinGen gnomAD |
|
|
rs966849452 CA245335812 |
604 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA387246727 rs1435277578 |
605 | D>A | No |
ClinGen gnomAD |
|
|
CA6875944 rs760312838 |
606 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs772738276 CA6875943 |
607 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6875940 rs776170130 |
610 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 612 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593253416 CA387246671 |
613 | F>L | No |
ClinGen Ensembl |
|
|
CA6875939 rs376232738 |
613 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 614 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs184530178 CA6875937 |
614 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1335743743 CA387246668 |
614 | M>V | No |
ClinGen TOPMed |
|
|
rs775239937 CA387246657 |
615 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs775239937 CA245335761 |
615 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 616 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774295916 CA6875936 |
618 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA245335753 rs1039952127 |
620 | R>S | No |
ClinGen Ensembl |
|
|
rs777948878 CA6875933 |
622 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 627 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6875930 rs778844785 |
627 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371664509 TCGA novel CA6875931 |
627 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD |
|
rs1378418114 CA387246578 |
628 | Q>E | No |
ClinGen gnomAD |
|
|
rs1188139377 CA387246570 |
629 | I>L | No |
ClinGen TOPMed |
|
|
rs1422251486 CA387246544 |
632 | G>E | No |
ClinGen TOPMed |
|
|
rs866629279 CA245335705 |
633 | Q>* | No |
ClinGen Ensembl |
|
|
CA387246533 rs1370804914 |
634 | E>G | No |
ClinGen TOPMed |
|
|
CA387246536 rs1565957173 |
634 | E>K | No |
ClinGen Ensembl |
|
|
rs753296764 CA245335699 |
635 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3703955 rs753296764 COSM1605768 CA6875928 |
635 | L>I | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA387246514 rs1375949087 |
637 | M>T | No |
ClinGen Ensembl |
|
|
rs1426449587 CA387246506 |
638 | T>N | No |
ClinGen gnomAD |
|
|
rs1487683779 CA387246501 |
639 | T>N | No |
ClinGen gnomAD |
|
|
CA6875927 rs765985843 |
639 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs760094918 CA6875926 |
640 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA245335697 rs76352775 |
641 | Q>K | No |
ClinGen Ensembl |
|
|
CA387246471 rs1332514718 |
642 | I>F | No |
ClinGen gnomAD |
|
|
rs759729550 CA245333132 |
645 | P>A | No |
ClinGen Ensembl |
|
|
rs1045014616 CA245333130 |
646 | L>R | No |
ClinGen Ensembl |
|
|
CA6875895 rs767288678 |
646 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA387246442 rs1394998298 |
647 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761487240 CA6875894 |
648 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM203538 rs368658439 CA245333118 |
651 | L>F | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA |
| TCGA novel | 655 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387246394 rs1593252482 |
655 | T>P | No |
ClinGen Ensembl |
|
|
rs771304270 CA6875889 |
657 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1456240378 CA387246363 |
660 | D>Y | No |
ClinGen gnomAD |
|
|
rs772287209 CA6875886 |
661 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1007745206 CA245333102 |
664 | T>A | No |
ClinGen TOPMed |
|
|
CA387246315 rs1593252467 |
667 | D>A | No |
ClinGen Ensembl |
|
|
CA387246312 rs1355541249 |
667 | D>E | No |
ClinGen gnomAD |
|
|
rs143218514 CA245333091 |
669 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA387246303 rs143218514 COSM292102 |
669 | G>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA245333088 rs201237057 |
670 | V>M | No |
ClinGen 1000Genomes |
|
| TCGA novel | 671 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387246274 rs1242104903 |
674 | T>A | No |
ClinGen TOPMed |
|
|
CA387246244 rs1251239380 |
679 | S>A | No |
ClinGen TOPMed |
|
|
CA387246233 rs1565956258 |
681 | Q>K | No |
ClinGen Ensembl |
|
|
CA6875883 rs768548698 |
682 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593252450 CA387246202 |
685 | G>V | No |
ClinGen Ensembl |
|
|
rs1555227875 CA387246197 |
686 | S>N | No |
ClinGen Ensembl |
|
|
rs1382341192 CA387246193 |
686 | S>R | No |
ClinGen TOPMed |
|
|
CA6875881 rs780058544 |
689 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755944431 CA6875880 |
690 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745372878 CA6875879 |
696 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1380549375 CA387246121 |
698 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1157607987 CA387246116 |
698 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 700 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248302027 CA387246095 |
701 | Q>H | No |
ClinGen gnomAD |
|
|
rs1368191214 CA387246092 |
702 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 702 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751305550 CA6875876 |
703 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs755402986 CA245332991 |
704 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6875875 rs763622557 |
704 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA387246075 rs1220383244 |
705 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 705 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1056818799 CA245330948 |
707 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6875850 rs757930619 |
709 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs754235778 CA6875849 |
709 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1478143056 CA387246019 |
711 | C>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1349068657 CA387246003 |
713 | V>A | No |
ClinGen TOPMed |
|
|
CA387245984 rs1223567978 |
716 | S>G | No |
ClinGen TOPMed |
|
|
rs1186053799 CA387245956 |
720 | V>F | No |
ClinGen gnomAD |
|
|
COSM1492850 CA6875847 rs756460483 |
721 | T>M | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA387245944 rs1220855662 |
722 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs767985465 CA6875845 |
722 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA387245938 rs1461029403 |
723 | L>S | No |
ClinGen gnomAD |
|
|
CA6875844 rs761900425 |
724 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 724 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1021401600 CA245330907 |
725 | I>S | No |
ClinGen Ensembl |
|
|
CA6875839 rs769758987 |
727 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6875840 rs546922206 |
727 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs546922206 CA6875841 |
727 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA245330889 rs958572673 |
728 | G>E | No |
ClinGen Ensembl |
|
|
CA6875838 rs759372851 |
729 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs374951513 CA387245890 COSM1268025 |
730 | D>E | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA245330883 rs1034637372 |
730 | D>G | No |
ClinGen Ensembl |
|
|
CA245330879 rs371541761 |
733 | L>S | No |
ClinGen ESP |
|
|
CA387245865 rs1446907014 |
734 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6875836 rs770943777 |
735 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs980038697 CA387245855 |
736 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs980038697 CA245330874 |
736 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1168184051 CA387245848 |
737 | S>A | No |
ClinGen gnomAD |
|
|
rs1593251023 CA387245827 |
740 | E>K | No |
ClinGen Ensembl |
|
|
rs777082828 CA6875834 |
740 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs907158835 CA245330871 |
741 | K>M | No |
ClinGen Ensembl |
|
|
CA6875833 rs149855471 |
742 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747816717 CA6875832 |
743 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6875830 rs756515507 |
744 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750749631 CA6875829 |
748 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs757690380 CA6875827 |
750 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA245330840 rs909079144 |
757 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201186278 CA387245704 |
758 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201186278 CA6875826 |
758 | A>V | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs370496653 CA6875823 |
762 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759425875 CA6875822 |
764 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387245667 rs1310933356 |
764 | G>S | No |
ClinGen gnomAD |
|
|
CA6875821 rs759425875 |
764 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387245659 rs1375786103 |
765 | T>N | No |
ClinGen gnomAD |
|
|
CA387245660 rs1375786103 |
765 | T>S | No |
ClinGen gnomAD |
|
|
rs73159540 CA6875819 |
767 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387245639 rs760598148 |
769 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6875818 rs760598148 |
769 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA245330789 rs546202907 |
770 | E>D | No |
ClinGen 1000Genomes |
|
|
rs577207277 CA6875817 |
771 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747666896 CA6875815 |
774 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA245330779 rs934215941 |
775 | E>D | No |
ClinGen Ensembl |
|
|
rs1244480082 CA387245597 |
775 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 776 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171795599 CA387245566 |
779 | K>R | No |
ClinGen gnomAD |
|
|
rs746232750 COSM203536 CA6875812 |
782 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6875813 rs768253141 |
782 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387245538 rs1221117636 |
783 | K>N | No |
ClinGen gnomAD |
|
|
CA387245534 rs1270897597 |
784 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 788 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387245508 rs1489615235 |
788 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA387245509 rs1489615235 |
788 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA387245494 rs542438666 |
790 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM2156701 CA6875811 rs542438666 COSM3398521 |
790 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs752054004 COSM692324 CA6875809 |
791 | A>T | lung oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1384521316 CA387245478 |
793 | I>V | No |
ClinGen TOPMed |
|
|
CA6875807 rs758438067 |
794 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 800 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6875804 rs201724905 |
801 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6875805 rs765570907 |
801 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387245421 rs765570907 |
801 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA245330746 rs958734579 |
802 | A>G | No |
ClinGen Ensembl |
|
|
CA387245415 rs1300106059 |
802 | A>T | No |
ClinGen gnomAD |
|
|
CA6875801 rs769917403 |
803 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs891557109 CA245330736 |
803 | N>S | No |
ClinGen TOPMed |
|
|
rs1157434890 CA387245404 |
804 | P>A | No |
ClinGen gnomAD |
|
|
rs1593250957 CA387245401 |
804 | P>R | No |
ClinGen Ensembl |
|
|
rs879148773 CA245330728 |
806 | T>S | No |
ClinGen Ensembl |
|
|
rs760498916 CA6875800 |
807 | S>G | No |
ClinGen ExAC gnomAD |
|
|
COSM692325 CA6875799 rs773066809 |
807 | S>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6875798 rs761255766 |
808 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6875797 rs761255766 |
808 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 809 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA245330688 rs1044328126 |
811 | H>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 812 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6875795 rs768146903 |
814 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748994380 CA6875794 |
815 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA387245326 rs1593250927 |
816 | V>G | No |
ClinGen Ensembl |
|
|
CA6875792 rs771237249 |
816 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 817 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778164559 CA6875790 |
818 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6875791 rs747357113 |
818 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA245330644 rs865946525 |
819 | E>K | No |
ClinGen Ensembl |
|
|
CA387245299 rs1382821919 |
820 | N>S | No |
ClinGen gnomAD |
|
|
rs1382821919 CA387245300 |
820 | N>T | No |
ClinGen gnomAD |
|
|
rs981706165 CA245330643 |
821 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA387245281 rs1287289709 |
823 | S>G | No |
ClinGen gnomAD |
|
|
rs758882427 CA6875789 |
823 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs971265703 CA245330638 |
826 | R>K | No |
ClinGen TOPMed |
|
|
rs1176143502 CA387245249 |
827 | P>L | No |
ClinGen gnomAD |
|
|
CA387245252 rs1360050688 |
827 | P>S | No |
ClinGen gnomAD |
|
|
CA6875788 rs748181212 |
829 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs779202020 CA6875787 |
829 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6875785 rs143905056 |
830 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143905056 CA6875784 |
830 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755096277 CA6875786 |
830 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755096277 CA387245234 |
830 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000959355 rs140762080 CA6875783 |
831 | S>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs781274689 COSM430714 CA245330621 |
832 | Q>H | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA245330619 rs965400856 |
833 | E>D | No |
ClinGen TOPMed |
|
|
CA387245210 rs1483367898 |
834 | W>G | No |
ClinGen gnomAD |
|
|
rs761872517 CA6875780 |
834 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1319974000 CA387245194 |
836 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 839 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387245170 rs1228280465 |
839 | G>E | No |
ClinGen gnomAD |
|
|
rs1384441710 CA387245171 |
839 | G>R | No |
ClinGen TOPMed |
|
|
CA6875778 rs763640164 |
842 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762416338 CA6875777 |
843 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs77037710 CA245330594 |
844 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA245330582 rs1017392265 |
846 | S>F | No |
ClinGen Ensembl |
|
|
CA245330580 rs200627096 |
847 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA387245120 rs1468520432 |
847 | M>V | No |
ClinGen gnomAD |
|
|
rs142956798 CA6875775 |
849 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377746256 CA6875773 |
850 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs568598060 CA6875772 |
851 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6875771 rs748723631 |
852 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6875769 rs755151262 |
853 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3384144 CA245330574 COSM3384143 rs1010391944 |
853 | R>W | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1238714990 CA387245076 |
854 | G>D | No |
ClinGen gnomAD |
|
|
rs143170493 CA245330569 |
856 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1593250834 CA387245054 |
858 | D>Y | No |
ClinGen Ensembl |
|
|
CA387245040 rs1593250826 |
860 | S>A | No |
ClinGen Ensembl |
|
|
CA387245036 rs1593250810 |
860 | S>F | No |
ClinGen Ensembl |
|
|
CA387245034 rs1430708082 |
861 | I>V | No |
ClinGen TOPMed |
|
|
CA6875767 rs201696669 |
862 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1247044081 CA387245024 |
863 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387245020 rs1479269395 |
863 | Q>R | No |
ClinGen TOPMed |
|
|
CA387244999 rs1175203118 |
866 | K>E | No |
ClinGen TOPMed |
|
|
rs1402169529 CA387244996 |
866 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1287693062 CA387244992 |
867 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs767399445 CA6875762 |
869 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6875761 rs756976748 |
870 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA245330533 rs1003069593 |
870 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6875760 rs751535148 |
870 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223186038 CA387244962 |
871 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 872 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387244948 rs1424684543 |
873 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 873 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6875759 rs763977352 |
873 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA387244932 rs752144850 |
875 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762471368 CA6875758 |
875 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 876 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240899158 CA387244924 |
876 | S>R | No |
ClinGen TOPMed |
|
|
rs764802352 CA245330513 |
877 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 877 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764802352 CA6875756 |
877 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 877 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764802352 CA387244923 |
877 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555131 CA6875755 VAR_032264 |
878 | L>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA387244914 rs1380743760 |
878 | L>S | No |
ClinGen gnomAD |
|
|
CA6875754 rs202155136 |
880 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6875752 rs772537163 |
883 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs373474487 CA245330480 |
884 | D>A | No |
ClinGen ESP TOPMed |
|
|
rs775031413 CA6875750 |
884 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6875748 rs150964423 |
886 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200821494 CA6875747 |
887 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387244855 rs1565954652 |
887 | S>R | No |
ClinGen Ensembl |
|
|
rs769745712 CA6875745 |
888 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 889 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6875743 rs781237014 |
890 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs971213531 CA245330451 |
890 | A>T | No |
ClinGen Ensembl |
|
|
rs138024935 CA6875740 |
892 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138024935 CA6875741 |
892 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157379956 CA387244829 |
892 | V>M | No |
ClinGen TOPMed |
|
|
CA387244811 rs1165997553 |
895 | P>T | No |
ClinGen TOPMed |
|
|
rs758947962 CA6875735 |
899 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs764860393 CA6875736 |
899 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1457475558 CA387244778 |
900 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 902 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363837094 CA387244761 |
902 | D>N | No |
ClinGen TOPMed |
|
|
rs1379305149 CA387244750 |
903 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6875734 rs753570003 |
906 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6875732 rs762294382 |
907 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA387244724 rs1290776340 |
907 | M>L | No |
ClinGen gnomAD |
|
|
rs1220315491 CA387244710 |
909 | A>T | No |
ClinGen gnomAD |
|
|
rs1375811686 CA387244702 |
910 | S>A | No |
ClinGen TOPMed |
|
|
rs796365436 CA245330440 |
911 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs769295582 CA6875730 |
912 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387244683 rs1224723465 |
913 | L>P | No |
ClinGen gnomAD |
|
|
CA387244680 rs1375812167 |
914 | S>G | No |
ClinGen TOPMed |
|
|
CA387244678 rs1565954609 |
914 | S>N | No |
ClinGen Ensembl |
|
|
CA6875727 rs745894276 |
914 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM277719 rs1280855048 CA387244673 |
915 | D>N | large_intestine skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 917 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401283585 CA387244647 |
918 | I>T | No |
ClinGen gnomAD |
|
|
CA387244625 rs1326690609 |
921 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 923 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6875724 rs771083001 |
923 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1404160564 CA387244570 |
929 | L>W | No |
ClinGen gnomAD |
|
|
rs1251316097 CA387244563 |
930 | A>D | No |
ClinGen TOPMed |
|
|
rs962633895 CA245330418 |
932 | L>W | No |
ClinGen Ensembl |
|
|
rs1565954583 CA387244523 |
936 | I>T | No |
ClinGen Ensembl |
|
|
CA387244504 rs1593250706 |
939 | V>M | No |
ClinGen Ensembl |
|
|
rs1427091063 CA387244495 |
940 | T>N | No |
ClinGen gnomAD |
|
|
CA387244484 rs1565954579 |
942 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 945 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752730914 CA6875720 |
946 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6875719 rs778692035 |
946 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 946 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754537377 CA387244429 CA6875718 |
949 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs989505916 CA245330393 |
949 | Q>R | No |
ClinGen TOPMed |
|
|
CA387244427 rs753245505 |
950 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6875717 rs753245505 |
950 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6875716 rs532510769 |
951 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387244423 rs1204676224 |
951 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1360030 rs750082666 CA6875714 |
953 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 954 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA245330356 rs868160838 |
954 | E>K | No |
ClinGen TOPMed |
|
|
CA245330350 rs889851949 |
955 | Q>E | No |
ClinGen Ensembl |
|
|
rs764597587 CA6875713 |
957 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387244381 rs1361969123 |
957 | G>R | No |
ClinGen gnomAD |
|
|
rs753644162 CA245330345 |
958 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 960 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1450566492 CA387244345 |
962 | H>D | No |
ClinGen Ensembl |
|
|
rs998319307 CA245330342 |
962 | H>R | No |
ClinGen Ensembl |
|
|
CA6875710 rs765624205 |
963 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776089594 CA6875711 |
963 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs778792661 CA245330341 |
963 | D>N | No |
ClinGen gnomAD |
|
|
rs1565954549 COSM1476322 CA387244326 |
964 | W>C | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs759667527 CA6875709 COSM1268018 |
965 | V>A | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA387244325 rs1389364624 |
965 | V>I | No |
ClinGen gnomAD |
|
|
CA6875708 rs776516255 |
966 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776516255 CA387244316 |
966 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387244312 rs1167403105 |
967 | L>S | No |
ClinGen gnomAD |
|
|
CA387244305 rs1245174561 |
968 | S>N | No |
ClinGen gnomAD |
|
|
CA6875703 rs747847401 |
970 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM936928 rs558110794 CA6875704 |
970 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs754802277 CA6875701 |
972 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748840481 CA6875700 |
972 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA387244276 rs1212277136 |
973 | L>V | No |
ClinGen gnomAD |
|
|
CA387244258 rs1358059050 |
975 | E>D | No |
ClinGen gnomAD |
|
|
rs755658327 CA387244252 |
976 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575055802 CA6875699 |
976 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387244255 rs1308730431 |
976 | N>Y | No |
ClinGen TOPMed |
|
|
rs750153939 CA6875697 |
978 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1380225556 CA387244241 |
978 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 979 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593250648 CA387244233 |
979 | N>T | No |
ClinGen Ensembl |
|
|
CA6875695 rs767233297 |
980 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs190298747 CA6875693 |
983 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387244180 rs77652071 |
987 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs77652071 CA245330273 |
987 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs777190411 CA6875688 |
989 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA387244134 rs1170316668 |
993 | R>S | No |
ClinGen TOPMed |
|
|
rs372179663 CA245330270 |
994 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 994 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372179663 CA387244128 |
994 | G>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
COSM1706437 CA387244119 rs1471041366 |
995 | M>I | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs766484835 CA6875687 |
996 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 997 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs185584611 CA6875684 |
998 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773444326 CA6875685 |
998 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773444326 CA245330254 |
998 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387244071 rs1565954482 |
1002 | Y>C | No |
ClinGen Ensembl |
|
|
CA387244051 rs1239200875 |
1005 | S>N | No |
ClinGen gnomAD |
|
|
rs768481097 CA6875681 |
1007 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs749246298 CA6875680 |
1008 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780121743 CA6875679 |
1009 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1011 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387244009 rs1276953925 |
1011 | S>T | No |
ClinGen TOPMed |
|
|
CA6875678 rs755711363 |
1012 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs745333995 CA6875677 |
1013 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224922850 CA387243979 |
1015 | Q>H | No |
ClinGen TOPMed |
|
|
CA387243955 COSM1677472 rs949845901 |
1019 | P>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA245330207 rs949845901 |
1019 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756802963 CA6875675 |
1019 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6875674 rs751212294 |
1020 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1021 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779211933 CA6875673 |
1022 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1022 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754390553 CA6875672 |
1023 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567346371 CA245330194 |
1024 | I>N | No |
ClinGen gnomAD |
|
|
CA387243928 rs567346371 |
1024 | I>T | No |
ClinGen gnomAD |
|
|
rs766821804 CA6875670 |
1024 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA245330190 rs868445394 |
1025 | I>L | No |
ClinGen Ensembl |
|
|
rs181601637 CA6875668 |
1025 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1025 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6875665 rs774623607 |
1026 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA387243879 rs1269055645 |
1031 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1032 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6875663 rs762763245 |
1033 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6875664 rs768389546 |
1033 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1040629129 CA387243859 |
1034 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA245330166 rs1040629129 |
1034 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6875662 rs775602150 |
1034 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769789929 CA6875661 |
1035 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6875659 rs745386920 |
1036 | T>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1038 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6875658 rs780908800 |
1038 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA387243833 rs1225345146 |
1039 | T>N | No |
ClinGen gnomAD |
|
|
CA387243814 rs1346032955 |
1042 | R>K | No |
ClinGen gnomAD |
|
|
CA387243810 rs770471185 |
1042 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs201505486 CA6875655 |
1045 | V>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6875656 rs200191564 |
1045 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1047 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593250568 CA387243774 |
1048 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 1049 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755320363 CA6875654 |
1050 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387243751 rs761446579 |
1051 | T>I | No |
ClinGen gnomAD |
|
|
CA245330127 rs761446579 |
1051 | T>S | No |
ClinGen gnomAD |
|
|
rs143281224 CA6875652 |
1052 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM547050 rs750913130 COSM3980891 CA6875650 |
1053 | V>I | lung ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA387243738 rs1593250554 |
1054 | S>A | No |
ClinGen Ensembl |
|
|
CA6875648 rs761917469 COSM258814 |
1057 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1485337608 COSM936926 CA387243713 |
1058 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1324211875 CA387243701 |
1059 | Y>C | No |
ClinGen gnomAD |
|
|
CA245330098 rs764751105 |
1060 | P>L | No |
ClinGen Ensembl |
|
|
CA387243666 rs1470604063 |
1064 | S>F | No |
ClinGen TOPMed |
|
|
rs1409832386 CA387243662 |
1065 | I>T | No |
ClinGen TOPMed |
|
|
CA6875642 rs571428113 |
1065 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1066 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3954384 COSM3954383 CA6875640 rs770396800 |
1066 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA245330070 rs956490929 |
1067 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA387243643 rs1454872768 |
1068 | S>N | No |
ClinGen gnomAD |
|
|
rs1319024177 CA387243646 |
1068 | S>R | No |
ClinGen gnomAD |
|
|
CA387243636 rs1176254365 |
1069 | S>C | No |
ClinGen gnomAD |
|
|
CA6875638 rs771686981 |
1069 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749663236 CA6875636 |
1070 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749663236 CA387243630 |
1070 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749174053 CA6875634 |
1072 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs370402247 CA6875633 |
1073 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1281664893 CA387243591 |
1075 | W>* | No |
ClinGen TOPMed |
|
|
CA6875632 rs746410485 |
1075 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA387243594 rs1185227947 |
1075 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM1268017 CA6875631 rs781691976 |
1076 | V>A | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1242467133 CA387243584 |
1076 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1242467133 CA387243585 |
1076 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1240117967 CA387243561 |
1079 | D>G | No |
ClinGen TOPMed |
|
|
CA387243565 rs1481575226 |
1079 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1706436 CA245330053 rs1021116259 |
1081 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA6875630 rs551304457 |
1082 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1307159616 CA387243536 |
1083 | G>E | No |
ClinGen gnomAD |
|
|
rs1593250509 CA387243539 RCV000851314 |
1083 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1361759991 CA387243530 |
1084 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 1085 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751593339 CA6875629 COSM692334 |
1085 | C>Y | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs752965079 COSM1176798 CA6875626 |
1089 | H>P | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs765164006 CA6875625 |
1090 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759382977 CA6875624 |
1092 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234441352 CA387243468 |
1093 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 1094 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6875623 rs776455207 |
1096 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387938555 CA387243430 |
1098 | N>D | No |
ClinGen gnomAD |
|
|
CA245330028 rs766299752 |
1098 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6875622 rs766299752 |
1098 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6875621 rs760105459 |
1099 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1444847140 CA387243425 |
1099 | V>M | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q14C87
4 regional properties for Q14C87
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a 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. |
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 |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q24JP5 | TMEM132A | Transmembrane protein 132A | Homo sapiens (Human) | PR |
| Q6IEE7 | TMEM132E | Transmembrane protein 132E | Homo sapiens (Human) | PR |
| Q6IEE6 | Tmem132e | Transmembrane protein 132E | Mus musculus (Mouse) | PR |
| Q922P8 | Tmem132a | Transmembrane protein 132A | Mus musculus (Mouse) | PR |
| Q80WF4 | Tmem132a | Transmembrane protein 132A | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MCPSEMGTLW | HHWSPVLISL | AALFSKVTEG | RGILESIQRF | SLLPTYLPVT | YHINNADVSF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FLKEANQDIM | RNSSLQSRVE | SFLIYKSRRL | PVLNASYGPF | SIEQVVPQDL | MLPSNPFGFT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NKFSLNWKLK | AHILRDKVYL | SRPKVQVLFH | IMGRDWDDRS | AGEKLPCLRV | FAFRETREVR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GSCRLQGDLG | LCVAELELLS | SWFSPPTVVA | GRRKSVDQPE | GTPVELYYTV | HPGGERGDCV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| REDARRSNGI | RTGHSDIDES | GPPLQRIGSI | FLYQTHRKPS | LRELRLDNSV | AIHYIPKTVR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KGDVLTFPVS | ISRNSTEDRF | TLRAKVKKGV | NIIGVRASSP | SIWDVKERTD | YTGKYAPAVI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VCQKKAAGSE | NSADGASYEV | MQIDVEVEEP | GDLPATQLVT | WQVEYPGEIT | SDLGVSKIYV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SPKDLIGVVP | LAMEAEILNT | AILTGKTVAV | PVKVVSVEDD | GTVTELLESV | ECRSSDEDVI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KVSDRCDYVF | VNGKEMKGKV | NVVVNFTYQH | LSSPLEMTVW | VPRLPLQIEV | SDTELNQIKG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| WRVPIVSSRR | PAGDSEEEED | DERRGRGCTL | QYQHAMVRVL | TQFVAEAAGP | GGHLAHLLGS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DWQVDITELI | NDFMQVEEPR | IAKLQGGQIL | MGQELGMTTI | QILSPLSDTI | LAEKTITVLD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EKVTITDLGV | QLVTGLSLSL | QLSPGSNRAI | FATAVAQELL | QRPKQEAAIS | CWVQFSDGSV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TPLDIYDGKD | FSLMATSLDE | KVVSIHQDPK | FKWPIIAAET | EGQGTLVKVE | MVISESCQKS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KRKSVLAVGT | ANIKVKFGQN | DANPNTSDSR | HTGAGVHMEN | NVSDRRPKKP | SQEWGSQEGQ |
| 850 | 860 | 870 | 880 | 890 | 900 |
| YYGSSSMGLM | EGRGTTTDRS | ILQKKKGQES | LLDDNSHLQT | IPSDLTSFPA | QVDLPRSNGE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| MDGNDLMQAS | KGLSDLEIGM | YALLGVFCLA | ILVFLINCVT | FALKYRHKQV | PFEEQEGMSH |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SHDWVGLSNR | TELLENHINF | ASSQDEQITA | IDRGMDFEES | KYLLSTNSQK | SINGQLFKPL |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| GPIIIDGKDQ | KSEPPTSPTS | KRKRVKFTTF | TAVSSDDEYP | TRNSIVMSSE | DDIKWVCQDL |
| 1090 | |||||
| DPGDCKELHN | YMERLHENV |