C9JQI7
PR
Gene name |
TMEM232 |
Protein name |
Transmembrane protein 232 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:642987 |
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 C9JQI7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-C9JQI7-F1 | Predicted | AlphaFoldDB |
544 variants for C9JQI7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3364443 rs74501411 |
3 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1330002831 CA360699285 |
3 | M>V | No |
ClinGen TOPMed |
|
|
rs1278911097 CA360699273 |
4 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1210959797 CA360699270 |
5 | V>I | No |
ClinGen gnomAD |
|
|
CA125332689 rs982236174 |
6 | N>D | No |
ClinGen Ensembl |
|
|
rs139849547 CA3364442 CA125332688 |
6 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3364441 rs186494088 |
7 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1272104527 CA360699248 |
9 | P>S | No |
ClinGen TOPMed |
|
|
CA125332687 rs935281885 |
10 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1225756168 CA360699241 |
10 | M>V | No |
ClinGen gnomAD |
|
|
CA360699226 rs1255245355 |
12 | N>D | No |
ClinGen TOPMed |
|
|
rs1402336733 CA360699215 |
13 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1402336733 CA360699214 |
13 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA125332686 rs1004974178 |
15 | G>R | No |
ClinGen TOPMed |
|
|
CA3364439 rs768216843 |
16 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA360699185 rs1385768756 |
18 | S>Y | No |
ClinGen TOPMed |
|
|
rs573717107 CA3364438 |
20 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs982001183 CA125332683 |
22 | H>Y | No |
ClinGen TOPMed |
|
|
CA360699155 rs1431881506 |
23 | E>Q | No |
ClinGen TOPMed |
|
|
rs554845418 CA3364437 |
25 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3364436 rs181213936 |
27 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1256710693 CA360699112 |
29 | N>H | No |
ClinGen gnomAD |
|
|
rs995901228 CA125332682 |
30 | F>Y | No |
ClinGen TOPMed |
|
|
CA360699096 rs1188094408 |
31 | Q>E | No |
ClinGen gnomAD |
|
|
rs900252268 CA125332681 |
31 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA125332680 rs952490612 |
32 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA125332679 rs952490612 |
32 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1339155457 CA360699075 |
34 | S>G | No |
ClinGen gnomAD |
|
|
rs750783377 CA3364435 |
34 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs993800878 CA125332677 |
35 | G>R | No |
ClinGen TOPMed |
|
|
rs1342679956 CA360699052 |
37 | R>S | No |
ClinGen TOPMed |
|
|
CA360699046 rs547390785 |
38 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1220847202 CA360699048 |
38 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA125332676 rs547390785 |
38 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA360699047 rs547390785 |
38 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360699044 rs1246274119 |
39 | H>D | No |
ClinGen TOPMed |
|
|
rs766768269 CA125332675 |
40 | K>T | No |
ClinGen gnomAD |
|
|
CA360699024 rs1430312170 |
42 | R>G | No |
ClinGen TOPMed |
|
|
rs1229330253 CA360698996 |
43 | P>S | No |
ClinGen gnomAD |
|
|
rs1041305225 CA125329417 |
47 | I>V | No |
ClinGen Ensembl |
|
|
rs1238413761 CA360698965 |
48 | T>A | No |
ClinGen gnomAD |
|
|
CA360698962 rs1229238481 |
48 | T>R | No |
ClinGen TOPMed |
|
|
rs547056774 CA3364428 |
49 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1222335413 CA360698951 |
50 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA125329416 rs934887189 CA360698910 |
55 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1333590645 CA360698911 |
55 | F>S | No |
ClinGen gnomAD |
|
|
rs1039548055 CA360698900 |
57 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1039548055 CA360698901 |
57 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA125329415 rs1039548055 COSM1633878 |
57 | Q>K | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA360698899 rs1203374066 |
57 | Q>L | No |
ClinGen TOPMed |
|
|
rs902192585 CA125329414 |
58 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA360698883 rs192437302 |
59 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3364425 rs773166599 |
60 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1157527876 CA360698873 |
61 | S>T | No |
ClinGen gnomAD |
|
|
rs767366092 CA3364424 |
61 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1425004024 CA360698868 |
62 | K>E | No |
ClinGen TOPMed |
|
|
rs1460404931 CA360698859 |
63 | E>G | No |
ClinGen TOPMed |
|
|
CA125329411 rs946368691 |
63 | E>Q | No |
ClinGen TOPMed |
|
|
CA360698848 rs564291267 |
64 | K>N | No |
ClinGen 1000Genomes gnomAD |
|
|
rs761848904 CA3364423 |
65 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA360698835 rs1309645264 |
66 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1370925185 CA360698817 |
69 | E>K | No |
ClinGen TOPMed |
|
|
CA360698803 rs1453899270 |
71 | A>P | No |
ClinGen gnomAD |
|
|
CA125329409 rs915032594 |
72 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 72 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360698797 rs1368641586 |
72 | R>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 74 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360698783 rs1204676704 |
74 | I>V | No |
ClinGen gnomAD |
|
|
rs1377282719 CA360698775 |
75 | I>F | No |
ClinGen TOPMed |
|
|
CA360698766 rs1354440255 |
76 | L>H | No |
ClinGen gnomAD |
|
|
rs116213141 CA125329408 |
78 | C>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA3364415 rs769352692 |
81 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360698585 rs1288182070 |
83 | G>C | No |
ClinGen gnomAD |
|
|
CA360698580 rs1306981484 |
83 | G>V | No |
ClinGen TOPMed |
|
|
rs1411059152 CA360698566 |
85 | K>E | No |
ClinGen TOPMed |
|
|
rs752496171 CA125329254 |
85 | K>R | No |
ClinGen Ensembl |
|
|
CA3364414 rs566374746 |
89 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3364413 rs566374746 |
89 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360698512 rs1220763424 |
89 | S>T | No |
ClinGen gnomAD |
|
|
rs1226516326 CA360698500 |
90 | G>E | No |
ClinGen TOPMed |
|
|
rs1025878378 CA125329251 |
92 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA360698454 rs1354604733 |
94 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360698433 rs1580464732 |
96 | P>T | No |
ClinGen Ensembl |
|
|
CA360698412 rs1274114612 |
98 | A>T | No |
ClinGen TOPMed |
|
|
rs1310610922 CA360698385 |
100 | T>A | No |
ClinGen gnomAD |
|
|
CA125329249 rs914698606 |
100 | T>I | No |
ClinGen gnomAD |
|
|
CA360698380 rs914698606 |
100 | T>N | No |
ClinGen gnomAD |
|
|
rs914698606 CA125329250 |
100 | T>S | No |
ClinGen gnomAD |
|
|
CA125329248 rs898837127 |
102 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs747569453 CA3364411 |
103 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417728826 CA360698322 |
106 | A>S | No |
ClinGen gnomAD |
|
|
rs796085346 CA125329247 |
107 | Q>* | No |
ClinGen TOPMed |
|
|
rs1265935345 CA360698288 |
108 | C>* | No |
ClinGen gnomAD |
|
|
CA360698298 rs1220252498 |
108 | C>S | No |
ClinGen Ensembl |
|
|
rs1016386291 CA125329246 |
108 | C>Y | No |
ClinGen TOPMed |
|
|
rs548139613 CA125329245 |
110 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 111 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1485358511 CA360698259 |
111 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 112 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360698220 rs1212430413 |
114 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA360698222 rs1238303219 |
114 | D>N | No |
ClinGen gnomAD |
|
|
CA360698213 rs1305567912 |
115 | E>* | No |
ClinGen gnomAD |
|
|
rs1321806161 CA360697495 |
116 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1314324254 CA360697447 |
119 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1314324254 CA360697446 |
119 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs761687573 CA360697438 |
120 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3364402 rs761687573 |
120 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA360697440 rs761687573 |
120 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA360697417 rs993363521 |
121 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1035434547 CA125328953 |
121 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA125328952 rs993363521 |
121 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1035434547 CA125328954 |
121 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1331550549 CA360697406 |
122 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA360697407 rs1331550549 |
122 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA360697398 rs1448025274 |
122 | A>V | No |
ClinGen gnomAD |
|
|
CA3364401 rs79165946 |
125 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360697352 rs1467911527 |
125 | D>N | No |
ClinGen TOPMed |
|
|
rs1037642730 CA125328951 |
126 | H>L | No |
ClinGen TOPMed |
|
|
rs1037642730 CA360697323 |
126 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 128 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561432642 CA360697298 |
128 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 129 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 132 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360697191 rs1457897984 |
133 | H>D | No |
ClinGen gnomAD |
|
|
rs1350974951 CA360697177 |
133 | H>L | No |
ClinGen gnomAD |
|
|
CA360697132 rs1417371583 |
136 | A>S | No |
ClinGen gnomAD |
|
|
rs1379935782 CA360697124 |
136 | A>V | No |
ClinGen gnomAD |
|
|
rs1299471893 CA360697098 |
138 | F>L | No |
ClinGen TOPMed |
|
|
COSM1432078 CA3364399 rs199999591 |
141 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1488804452 CA360696975 |
143 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 145 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 147 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309540875 CA360696866 |
149 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1561432362 CA360696802 |
152 | A>T | No |
ClinGen Ensembl |
|
|
rs78510152 CA3364394 |
152 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360696787 rs1386536109 |
154 | L>F | No |
ClinGen gnomAD |
|
|
rs1368971644 CA360696775 |
155 | K>E | No |
ClinGen gnomAD |
|
|
CA125328947 rs977541961 |
156 | T>I | No |
ClinGen TOPMed |
|
|
CA360696707 rs1451765341 |
160 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3364392 rs747338304 |
161 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3364393 rs771330522 |
161 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360695866 rs1483074368 |
169 | G>V | No |
ClinGen TOPMed |
|
|
rs997984525 CA125327629 |
170 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs201280045 CA125327628 |
171 | L>F | No |
ClinGen TOPMed |
|
|
rs560438908 CA3364387 |
171 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3364386 rs755082516 |
172 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA360695808 rs1346169461 |
174 | L>S | No |
ClinGen gnomAD |
|
|
CA360695813 rs1031569423 |
174 | L>V | No |
ClinGen TOPMed |
|
|
COSM3393067 rs754173049 CA3364384 |
175 | R>* | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
CA3364383 rs780401945 |
175 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780401945 CA125327626 |
175 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360695789 rs1317880019 |
176 | L>F | No |
ClinGen gnomAD |
|
|
CA360695774 rs1279363780 |
177 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 178 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs948854687 CA125327625 |
178 | I>T | No |
ClinGen Ensembl |
|
|
CA3364381 rs376262705 |
178 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs895081641 CA125327624 |
179 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA360695737 rs1396886145 |
182 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360695742 rs1333768096 |
182 | H>N | No |
ClinGen gnomAD |
|
|
CA360695739 rs1396886145 |
182 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3364380 rs763891694 |
184 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1398295423 CA360695726 |
184 | H>Y | No |
ClinGen TOPMed |
|
|
rs1296276285 CA360695692 |
188 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3364379 rs562534808 |
189 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360695662 rs1226693184 |
190 | Q>* | No |
ClinGen TOPMed |
|
|
rs1424270697 CA360695656 |
190 | Q>L | No |
ClinGen gnomAD |
|
|
rs61732341 CA3364378 |
191 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1200054834 CA360695601 |
193 | L>R | No |
ClinGen gnomAD |
|
|
rs1342407367 CA360695594 |
194 | R>T | No |
ClinGen TOPMed |
|
|
rs778315860 CA125327622 |
196 | Q>* | No |
ClinGen gnomAD |
|
|
rs1443854915 CA360695534 |
198 | Y>C | No |
ClinGen gnomAD |
|
|
CA125327621 rs919530291 |
200 | Y>N | No |
ClinGen Ensembl |
|
|
rs148599774 CA3364375 |
201 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1358505519 CA360695453 |
201 | A>V | No |
ClinGen gnomAD |
|
|
CA3364366 rs780232064 |
203 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1438403328 CA360695435 |
204 | F>L | No |
ClinGen gnomAD |
|
|
CA125327319 rs1014728906 |
206 | G>E | No |
ClinGen TOPMed |
|
|
CA360695421 rs1252195032 |
207 | A>T | No |
ClinGen TOPMed |
|
|
CA360695409 rs1324072035 |
209 | Y>H | No |
ClinGen gnomAD |
|
|
CA3364365 rs562290752 |
210 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3364364 rs562290752 |
210 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540597122 CA3364363 |
211 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA125327316 rs751514896 |
213 | P>T | No |
ClinGen Ensembl |
|
|
rs1185426345 CA360695364 |
215 | I>T | No |
ClinGen TOPMed |
|
|
rs1458104956 CA360695367 |
215 | I>V | No |
ClinGen gnomAD |
|
|
CA3364361 rs752624102 |
216 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1477214662 CA360695343 |
218 | N>I | No |
ClinGen gnomAD |
|
|
rs1430173425 CA360695332 |
220 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1200121837 CA360695323 |
221 | F>Y | No |
ClinGen gnomAD |
|
|
CA360695317 rs1284046792 |
222 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs920803661 CA360695300 CA125327315 |
224 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA125327314 rs995990998 |
225 | A>T | No |
ClinGen Ensembl |
|
|
rs528527143 CA3364359 |
226 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528527143 CA360695291 |
226 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1008917132 CA125327312 |
229 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA360695266 rs1275380259 |
230 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs985161339 CA125327311 |
230 | G>S | No |
ClinGen TOPMed |
|
|
rs1580406251 CA360695255 COSM1619306 |
232 | R>G | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA360695239 rs61730861 |
234 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs61730861 CA3364358 |
234 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1297085805 CA360695233 |
235 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs61730863 CA3364356 |
235 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61730863 CA360695232 |
235 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA125327310 rs946823209 |
236 | S>C | No |
ClinGen Ensembl |
|
|
CA125327309 rs989005696 |
237 | E>A | No |
ClinGen TOPMed |
|
|
rs1362085766 CA360695217 |
238 | S>P | No |
ClinGen gnomAD |
|
|
CA360695208 rs1171313078 |
239 | I>T | No |
ClinGen gnomAD |
|
|
rs61730869 CA3364355 |
241 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1239794595 CA360695175 |
244 | E>G | No |
ClinGen TOPMed |
|
|
CA3364354 rs772379529 |
246 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1261618885 CA360695144 |
248 | R>I | No |
ClinGen gnomAD |
|
|
CA125327307 rs1055702873 |
248 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs61730920 CA360695136 |
249 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1265657141 CA360695138 |
249 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 250 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749753580 CA3364350 |
251 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1220707090 CA360695120 |
251 | N>K | No |
ClinGen gnomAD |
|
|
CA125327305 rs1014262995 |
253 | D>E | No |
ClinGen TOPMed |
|
|
rs541701511 CA125327304 |
255 | D>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA125327303 rs541701511 |
255 | D>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA360695093 rs1277428386 |
256 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360694838 rs1224763647 |
257 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 257 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360694830 rs1268119200 |
258 | G>E | No |
ClinGen TOPMed |
|
|
CA360694828 rs1437376793 |
259 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 261 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456245997 CA360694808 |
261 | I>S | No |
ClinGen gnomAD |
|
|
rs1561396100 CA360694804 |
262 | N>Y | No |
ClinGen Ensembl |
|
|
rs748002514 CA3364344 |
263 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1319901459 CA360694790 |
264 | L>V | No |
ClinGen gnomAD |
|
|
rs1310046839 CA360694777 |
266 | W>* | No |
ClinGen gnomAD |
|
|
rs1227217220 CA360694774 |
266 | W>* | No |
ClinGen gnomAD |
|
|
rs1227217220 CA360694772 |
266 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 266 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA125326482 rs1053658120 |
267 | H>Q | No |
ClinGen Ensembl |
|
|
rs778526687 CA360694761 |
268 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778526687 CA3364343 |
268 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360694756 rs1285542874 |
269 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754925619 CA3364342 |
272 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1331081501 CA360694727 |
273 | S>C | No |
ClinGen gnomAD |
|
|
rs1398474392 CA360694731 |
273 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 274 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 276 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147495908 CA3364341 |
276 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 278 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162827683 CA360694677 |
280 | P>R | No |
ClinGen gnomAD |
|
|
rs371783850 CA3364340 |
280 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293798954 CA360694661 |
282 | L>F | No |
ClinGen TOPMed |
|
|
rs1331766943 CA360694655 |
283 | N>K | No |
ClinGen gnomAD |
|
|
CA125326480 rs1045033603 |
283 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750093989 CA360694645 |
285 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3364338 rs750093989 |
285 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61978570 CA3364337 |
290 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3364336 rs557269788 |
292 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3364335 rs184093273 |
295 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1321756512 CA360694558 |
296 | L>V | No |
ClinGen gnomAD |
|
|
rs1338753988 CA360694542 |
297 | Q>R | No |
ClinGen TOPMed |
|
|
CA360698731 rs1561373808 |
303 | D>H | No |
ClinGen Ensembl |
|
|
rs559407829 CA360698694 |
307 | A>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs559407829 CA125324996 |
307 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA360698679 rs1396396373 |
309 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3364317 rs764609735 |
310 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs910173919 CA125324994 |
310 | V>G | No |
ClinGen TOPMed |
|
|
CA360698672 rs1181036141 |
311 | L>F | No |
ClinGen TOPMed |
|
|
rs1329024456 CA360698669 |
311 | L>R | No |
ClinGen gnomAD |
|
|
CA125324993 rs867414686 |
315 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 315 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465098258 CA360698643 |
316 | K>E | No |
ClinGen gnomAD |
|
|
rs1248935228 CA360698640 |
316 | K>T | No |
ClinGen TOPMed |
|
|
CA125324992 rs986078825 |
318 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA125324990 rs1029050388 CA360698587 |
319 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs953083041 CA125324991 |
319 | M>K | No |
ClinGen gnomAD |
|
|
rs1169197147 CA360698603 |
319 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360698595 rs953083041 |
319 | M>T | No |
ClinGen gnomAD |
|
|
CA360698601 rs1169197147 |
319 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360698562 rs1187736557 |
321 | C>Y | No |
ClinGen gnomAD |
|
|
rs1445633053 CA360698547 |
322 | L>W | No |
ClinGen gnomAD |
|
|
rs1245417661 CA360698521 |
324 | A>S | No |
ClinGen gnomAD |
|
|
rs1055723316 CA125324989 |
326 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1274263163 CA360698472 |
327 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs374220227 CA3364315 |
327 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs370146570 CA3364314 |
328 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370146570 CA125324988 |
328 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360698425 rs1265094866 |
331 | D>H | No |
ClinGen gnomAD |
|
|
CA360698426 rs1265094866 |
331 | D>N | No |
ClinGen gnomAD |
|
|
CA360698382 rs1247060367 |
333 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1196898095 CA360698390 |
333 | V>I | No |
ClinGen gnomAD |
|
|
rs73224392 CA3364313 |
335 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3364312 rs776789106 |
336 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770852975 CA3364311 |
337 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA360698334 rs1445749373 |
337 | M>V | No |
ClinGen gnomAD |
|
|
rs999395040 CA125324987 |
339 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA360698280 rs1330767426 |
340 | Q>H | No |
ClinGen gnomAD |
|
|
CA360698276 rs1384577257 |
341 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 343 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170723719 CA360698152 |
345 | S>I | No |
ClinGen gnomAD |
|
|
rs1406225169 CA360698131 |
348 | V>L | No |
ClinGen gnomAD |
|
|
rs1207735370 CA360698123 |
349 | D>G | No |
ClinGen TOPMed |
|
|
CA360698113 rs1419494066 |
350 | D>E | No |
ClinGen gnomAD |
|
|
rs1297124176 CA360698116 |
350 | D>G | No |
ClinGen gnomAD |
|
|
CA3364302 rs575969740 |
350 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1480487164 CA360698103 |
352 | S>P | No |
ClinGen TOPMed |
|
|
CA3364301 rs557691799 |
353 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1160648162 CA360698081 |
355 | W>* | No |
ClinGen gnomAD |
|
|
CA3364300 rs116589201 |
357 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360698058 rs1580336330 |
358 | V>A | No |
ClinGen Ensembl |
|
|
CA360698048 rs560150147 |
360 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3364298 rs560150147 |
360 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125324914 rs553127601 |
362 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs1049828696 CA125324913 |
363 | V>G | No |
ClinGen Ensembl |
|
|
rs997462854 CA125324912 |
366 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA360697949 rs1344285971 |
370 | L>S | No |
ClinGen gnomAD |
|
|
rs1367462887 CA360697934 |
371 | Y>C | No |
ClinGen TOPMed |
|
|
rs1349239303 CA360697898 |
373 | A>D | No |
ClinGen TOPMed |
|
|
CA360697890 rs1349239303 |
373 | A>V | No |
ClinGen TOPMed |
|
|
rs535096279 CA125324910 |
376 | D>N | No |
ClinGen 1000Genomes |
|
|
rs1224822857 CA360697851 |
376 | D>V | No |
ClinGen gnomAD |
|
|
rs573828833 CA3364297 COSM1594692 |
378 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs760096352 CA3364296 |
378 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125324909 rs934875340 |
380 | T>A | No |
ClinGen TOPMed |
|
|
rs1346560889 CA360697792 |
381 | A>T | No |
ClinGen gnomAD |
|
|
CA125324908 rs924838195 |
382 | L>F | No |
ClinGen Ensembl |
|
|
rs1042474901 CA125324907 |
384 | G>V | No |
ClinGen TOPMed |
|
|
rs1413072595 CA360697755 |
385 | F>V | No |
ClinGen gnomAD |
|
|
CA360697726 rs1177703437 |
387 | H>Y | No |
ClinGen gnomAD |
|
|
CA360697708 rs1481469368 |
388 | C>R | No |
ClinGen gnomAD |
|
|
CA360697684 rs1490368917 |
388 | C>W | No |
ClinGen TOPMed |
|
|
CA360697636 rs1203863449 |
391 | S>L | No |
ClinGen TOPMed |
|
|
CA360697625 rs1421654535 |
392 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1379637154 CA360697635 |
392 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 393 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360697604 rs1193035858 |
394 | N>D | No |
ClinGen gnomAD |
|
|
rs1475888073 CA360697596 |
394 | N>T | No |
ClinGen gnomAD |
|
|
CA360697602 rs1193035858 |
394 | N>Y | No |
ClinGen gnomAD |
|
|
CA360697586 rs1368831332 |
395 | I>V | No |
ClinGen Ensembl |
|
|
rs1207787407 CA360697542 |
397 | Y>* | No |
ClinGen gnomAD |
|
|
rs147368547 CA3364293 |
399 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 401 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360697421 rs1205546370 |
402 | V>A | No |
ClinGen gnomAD |
|
|
CA360697427 rs1263692681 |
402 | V>L | No |
ClinGen gnomAD |
|
|
CA360697399 rs1277059595 |
403 | P>L | No |
ClinGen gnomAD |
|
|
rs1315980096 CA360697411 |
403 | P>T | No |
ClinGen gnomAD |
|
|
CA125324905 rs994834527 CA360697331 |
406 | L>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 406 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA125324904 rs900562941 |
409 | T>A | No |
ClinGen TOPMed |
|
|
CA360697247 rs1282026965 |
410 | S>R | No |
ClinGen gnomAD |
|
|
CA125324902 rs536856445 |
416 | E>K | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1368826981 CA360697008 |
419 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 421 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360696942 rs1471281702 |
422 | M>I | No |
ClinGen gnomAD |
|
|
rs138658941 CA3364292 |
422 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360696916 rs1398699629 |
423 | S>* | No |
ClinGen gnomAD |
|
|
CA360696885 rs1169892125 |
424 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1410558617 CA360696863 |
425 | N>K | No |
ClinGen gnomAD |
|
|
CA125324901 rs990543588 |
426 | C>R | No |
ClinGen Ensembl |
|
|
rs1487544406 CA360692914 |
427 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA125320443 rs1011716672 |
430 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs892897487 CA125320442 |
431 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1298068233 CA360692877 |
433 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1443037174 CA360692864 |
434 | Y>* | No |
ClinGen gnomAD |
|
|
CA360692860 rs1356411501 |
435 | Y>C | No |
ClinGen gnomAD |
|
|
CA125320441 rs764673127 CA360692844 |
437 | L>F | No |
ClinGen gnomAD |
|
|
rs1162765719 CA360692849 |
437 | L>I | No |
ClinGen gnomAD |
|
|
CA3364287 rs538286203 |
438 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1026681350 CA125320440 |
439 | Y>* | No |
ClinGen Ensembl |
|
|
rs1165260824 CA562219320 |
439 | Y>* | No |
ClinGen gnomAD |
|
|
rs1237500580 CA360692827 |
440 | N>I | No |
ClinGen gnomAD |
|
|
rs563411112 CA3364286 |
440 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360692795 rs1177658274 |
445 | S>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 445 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1244547717 CA360692786 |
446 | W>* | No |
ClinGen gnomAD |
|
|
CA125320439 rs759154882 |
448 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs368253982 CA125320437 |
449 | Q>* | No |
ClinGen Ensembl |
|
|
rs1248669800 CA360692764 |
449 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 450 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3364284 rs770513886 |
450 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA360692758 rs1306719128 |
451 | D>N | No |
ClinGen gnomAD |
|
|
COSM1567184 rs61734250 CA3364282 |
452 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA125320436 rs370577780 |
454 | Q>H | No |
ClinGen ESP TOPMed |
|
|
CA125320435 rs766148837 |
459 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360692678 rs1460891570 |
462 | W>R | No |
ClinGen Ensembl |
|
|
rs1417648940 CA360692638 |
467 | K>* | No |
ClinGen gnomAD |
|
|
rs1308488567 CA360692617 |
470 | D>N | No |
ClinGen TOPMed |
|
|
rs866917383 CA125320433 |
471 | Y>C | No |
ClinGen Ensembl |
|
|
CA360692601 rs1159564624 |
472 | E>K | No |
ClinGen gnomAD |
|
|
rs1420852133 CA360692586 |
474 | D>H | No |
ClinGen gnomAD |
|
|
CA360692582 rs1422948721 |
474 | D>V | No |
ClinGen gnomAD |
|
|
COSM1229660 CA3364281 rs148652027 |
476 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3364280 rs752333743 |
476 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360692547 rs1214070870 COSM1229658 |
480 | A>T | liver large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA360692536 rs1436793718 |
481 | I>M | No |
ClinGen gnomAD |
|
|
CA360692539 rs1469801668 |
481 | I>T | No |
ClinGen TOPMed |
|
|
CA3364279 rs1488596 |
481 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360692534 rs1260545688 |
482 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA360692535 rs1260545688 |
482 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs77909347 CA3364278 |
482 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773063584 CA125320432 |
483 | I>T | No |
ClinGen Ensembl |
|
|
rs1440911926 CA360692527 |
483 | I>V | No |
ClinGen TOPMed |
|
|
CA360692521 rs1364104586 |
484 | A>P | No |
ClinGen TOPMed |
|
|
CA360692520 rs1364104586 |
484 | A>S | No |
ClinGen TOPMed |
|
|
rs6894728 CA360694190 |
486 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs6894728 CA3364273 |
486 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1413559261 CA360694173 |
488 | L>* | No |
ClinGen TOPMed |
|
|
rs1291380380 CA360694170 |
489 | N>H | No |
ClinGen TOPMed |
|
|
rs1214261571 CA360694162 |
490 | D>N | No |
ClinGen gnomAD |
|
|
rs762088969 CA360694153 |
491 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360694150 rs1296519587 |
491 | P>L | No |
ClinGen gnomAD |
|
|
rs762088969 CA3364272 |
491 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360694154 rs762088969 |
491 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360694147 rs1271989990 |
492 | T>N | No |
ClinGen TOPMed |
|
|
rs923614469 CA125315552 |
492 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1376627658 CA360694135 |
494 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1335832386 CA360694131 |
494 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360694132 rs1335832386 |
494 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1376627658 CA360694134 |
494 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1470283673 CA360694128 |
495 | F>L | No |
ClinGen gnomAD |
|
|
rs1012519685 CA125315550 |
496 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs896402447 CA125315549 |
496 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1012519685 CA360694121 |
496 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1302801131 CA360694065 |
504 | S>* | No |
ClinGen gnomAD |
|
|
CA3364270 rs575617159 |
504 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA125315548 rs573807406 |
505 | N>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA125315547 rs370181499 |
506 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1402311018 CA360694030 |
509 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1275909239 CA360694032 |
509 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA125315545 rs959180438 CA125315544 |
511 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1361589802 CA360694022 |
511 | F>L | No |
ClinGen gnomAD |
|
|
CA360694008 rs1245460544 |
513 | K>T | No |
ClinGen gnomAD |
|
|
CA360693999 rs1194186106 |
514 | Y>C | No |
ClinGen gnomAD |
|
|
rs1034969862 CA125315542 |
515 | I>T | No |
ClinGen TOPMed |
|
|
rs1252126353 CA360693987 |
516 | G>E | No |
ClinGen gnomAD |
|
|
rs1003458642 CA125315541 |
516 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA125315540 rs941396666 |
517 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs555644701 CA3364269 |
519 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360693932 rs1561633738 |
524 | S>Y | No |
ClinGen Ensembl |
|
|
CA360693922 rs1343073151 |
526 | L>V | No |
ClinGen TOPMed |
|
|
CA360693911 rs934191553 |
527 | F>L | No |
ClinGen TOPMed |
|
|
CA360693899 rs1486968159 |
529 | P>H | No |
ClinGen TOPMed |
|
|
CA360693900 rs1384946620 |
529 | P>S | No |
ClinGen gnomAD |
|
|
rs112074804 CA125315538 |
530 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA125315537 rs112074804 |
530 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA125315536 rs1005935635 |
533 | A>D | No |
ClinGen gnomAD |
|
|
CA360693874 rs1005935635 |
533 | A>G | No |
ClinGen gnomAD |
|
|
CA360693876 rs1581093885 |
533 | A>T | No |
ClinGen Ensembl |
|
|
CA360693849 rs1169141562 |
537 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1384198454 CA360693841 |
538 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA125315534 rs934914111 |
539 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA360693829 rs1376731818 |
540 | K>E | No |
ClinGen TOPMed |
|
|
CA360693826 rs1387641023 |
540 | K>R | No |
ClinGen gnomAD |
|
|
CA360693822 rs1435337017 |
541 | P>T | No |
ClinGen TOPMed |
|
|
rs1199620165 CA360693812 |
542 | S>* | No |
ClinGen gnomAD |
|
|
rs572854209 CA3364267 |
543 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs888556138 CA125315533 |
543 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1197603996 CA360693776 |
547 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360693778 rs1197603996 |
547 | Q>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 548 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA125315531 rs967807994 |
549 | K>Q | No |
ClinGen TOPMed |
|
|
rs922763584 CA125315529 |
550 | Y>D | No |
ClinGen Ensembl |
|
|
rs1561633379 CA360693746 |
552 | N>D | No |
ClinGen Ensembl |
|
|
CA360693724 rs1041159027 |
554 | K>N | No |
ClinGen TOPMed |
|
|
rs1246444895 CA360693720 |
555 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1361260938 CA360693702 |
558 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3364266 rs557820137 |
559 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360693662 rs1445736727 |
562 | V>I | No |
ClinGen TOPMed |
|
|
rs1336249374 CA360693639 |
564 | H>Y | No |
ClinGen gnomAD |
|
|
rs924838742 CA125315527 |
567 | V>A | No |
ClinGen Ensembl |
|
|
TCGA novel rs1312523265 CA360693604 |
567 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
|
CA360692483 rs187747768 CA3364237 |
569 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360692480 rs1475859299 |
570 | H>Y | No |
ClinGen gnomAD |
|
|
CA125302397 rs763383595 |
572 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1181496838 CA360692462 |
573 | V>L | No |
ClinGen gnomAD |
|
|
rs751610007 CA3364236 |
574 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360692452 rs1243634998 |
575 | E>K | No |
ClinGen gnomAD |
|
|
CA360692443 rs1222936400 |
576 | I>V | No |
ClinGen TOPMed |
|
|
CA360692423 rs1271663993 |
578 | M>I | No |
ClinGen gnomAD |
|
|
CA360692428 rs1305195103 |
578 | M>T | No |
ClinGen gnomAD |
|
|
CA3364234 rs182471186 |
579 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 581 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA125302395 rs911772782 |
583 | D>V | No |
ClinGen TOPMed |
|
|
rs1580618786 CA360692384 |
584 | F>S | No |
ClinGen Ensembl |
|
|
CA3364232 rs766337968 |
586 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125302394 rs553179610 |
588 | A>T | No |
ClinGen 1000Genomes |
|
|
rs978515165 CA125302393 |
588 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3364231 rs760527754 |
589 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 591 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472552531 CA360692339 |
591 | E>Q | No |
ClinGen TOPMed |
|
|
CA360692307 rs1337890290 |
595 | I>T | No |
ClinGen gnomAD |
|
|
CA3364230 rs191599718 |
596 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760231064 CA3364229 |
597 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125302392 rs940652999 |
598 | H>R | No |
ClinGen Ensembl |
|
|
rs200371796 CA360692278 |
599 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3364216 rs747479019 |
600 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA360692256 rs1456089706 |
601 | Q>* | No |
ClinGen TOPMed |
|
|
CA360692246 rs1580598219 |
602 | E>G | No |
ClinGen Ensembl |
|
|
CA360692235 rs1177308379 |
603 | E>D | No |
ClinGen gnomAD |
|
|
CA360692242 rs1183284825 |
603 | E>K | No |
ClinGen TOPMed |
|
|
CA360692233 rs1470843244 |
604 | L>V | No |
ClinGen gnomAD |
|
|
CA3364215 rs777779518 |
605 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs533058323 CA3364214 |
606 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360692218 rs533058323 |
606 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3364213 rs61743146 |
607 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61743146 CA360692216 |
607 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61743145 CA125301852 |
607 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61743145 CA3364212 |
607 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1224212119 CA360692212 |
608 | E>* | No |
ClinGen gnomAD |
|
|
CA3364211 rs144429031 |
610 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360692195 rs1315690857 |
610 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1561470686 CA360692197 |
610 | E>Q | No |
ClinGen Ensembl |
|
|
CA360692188 rs1464181250 |
611 | D>G | No |
ClinGen TOPMed |
|
|
rs752448808 CA125301851 |
611 | D>N | No |
ClinGen Ensembl |
|
|
CA360692178 rs1388776169 |
613 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1023135870 CA125301850 |
613 | I>M | No |
ClinGen TOPMed |
|
|
CA125301849 rs991306242 |
617 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3364208 rs773102813 |
617 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346363220 CA360692143 |
618 | E>Q | No |
ClinGen gnomAD |
|
|
CA360692132 rs1561470563 |
619 | L>R | No |
ClinGen Ensembl |
|
|
CA125301848 rs928505847 |
621 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA125301847 rs1034661741 |
623 | K>N | No |
ClinGen TOPMed |
|
|
rs1159671452 CA360692096 |
624 | L>* | No |
ClinGen gnomAD |
|
|
CA3364205 rs149432689 |
625 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs896853326 CA125301846 |
628 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1198035381 CA360692059 |
629 | H>Q | No |
ClinGen gnomAD |
|
|
rs762491394 CA3364204 |
630 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1014930314 CA125301845 |
631 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1029577085 CA125301842 |
632 | E>D | No |
ClinGen TOPMed |
|
|
rs952128648 CA125301843 |
632 | E>G | No |
ClinGen TOPMed |
|
|
CA360692042 rs182807123 |
632 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA125301844 rs182807123 |
632 | E>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA360692028 rs1420330418 |
634 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 637 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs941328772 CA125301841 |
638 | E>Q | No |
ClinGen TOPMed |
|
|
rs1415220626 CA360691990 |
639 | E>A | No |
ClinGen TOPMed |
|
|
CA3364203 rs774941513 |
639 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA360691993 rs1260488819 |
639 | E>K | No |
ClinGen gnomAD |
|
|
rs17132110 CA3364202 |
642 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360691965 rs1261391869 |
643 | K>E | No |
ClinGen gnomAD |
|
|
CA3364201 rs759126991 |
644 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs759126991 CA360691958 |
644 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA125301840 rs138917790 |
647 | P>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA360691913 rs1434598021 |
650 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA125301839 rs371103290 |
654 | K>E | No |
ClinGen Ensembl |
|
|
rs192501577 CA125301838 |
655 | E>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA360691875 rs1282080918 |
656 | V>I | No |
ClinGen TOPMed |
|
|
CA3364199 rs546136379 |
658 | I>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with C9JQI7
No regional properties for C9JQI7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for C9JQI7 | |||
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 |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNMPVNKSPM | INTCGGISSP | YHEELWKLNF | QHLSGERGHK | SRPTFSITKE | FILRFNQTQN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SKEKEELLEL | ARKIILRCKR | KLGLKTLGSG | RHVHLPAAWT | EVIYLAQCKG | EIQDESLNML |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YASLDHASFD | YDHLPALFFV | AESVLYRLCC | DASLKTYLYS | VEIKLAKIGY | LVFLRLFIFF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LHGHLESFKQ | HLLRLQPYLY | ALSFSGASYH | KYPNIFSNVQ | FILKASEIIG | KRELRSESIF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RPVEDKKRYE | NTDSDMGGYE | INHLLWHCVA | AWSCVQNNSP | QLNNVLEHLV | FHKTQLQKKC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| WLDSVLALLV | LGEAAKLNMA | CLKALMDVVR | DFVSSIMSVQ | NQEESCKVDD | FSWAWNVVYI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YTVILAEICL | YAATSDLRKT | ALIGFCHCKS | SQKNILYLDK | SVPPELKETS | ILSLLEYFSS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KMSENCDQVV | WTGYYGLVYN | LVKISWELQG | DEEQDGLRNM | IWQTLQKTKD | YEEDVRIQNA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| INIAQAELND | PTDPFTRYST | NISSNVGEEV | FSKYIGWRIA | NTLSKLFFPP | IEAHFLPLKK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PSIKKDQTKY | PNKKLESVKK | QVLHFTVREH | PSVSEIPMFP | YPDFFTKADK | ELAKIIDHHW |
| 610 | 620 | 630 | 640 | 650 | |
| QEELKIREKE | DAICKAQELK | DKKLAEKNHF | QEVMKKREEK | LHKQTKPYEL | PYRKEVI |