Q96DM1
PR
Gene name |
PGBD4 |
Protein name |
PiggyBac transposable element-derived protein 4 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:161779 |
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 Q96DM1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96DM1-F1 | Predicted | AlphaFoldDB |
443 variants for Q96DM1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA7463022 rs373391573 |
2 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7463023 rs758433291 |
3 | N>D | No |
ClinGen ExAC |
|
| TCGA novel | 6 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA268621372 rs893262946 |
7 | R>C | No |
ClinGen TOPMed |
|
|
COSM173598 CA391607946 rs1298038398 |
7 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs768767400 CA7463026 |
8 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA7463028 rs748370068 |
10 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs776783726 CA7463027 |
10 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7463029 rs770102419 |
11 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464334621 CA391607981 |
13 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 18 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391608032 rs1367080198 |
20 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs763259329 CA7463032 |
23 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7463033 rs191002477 |
23 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7463034 rs774786298 |
24 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7463035 rs760164780 |
25 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA268621385 rs1024262263 |
26 | S>* | No |
ClinGen gnomAD |
|
|
rs753476722 CA7463037 |
27 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs763657982 CA7463036 |
27 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 28 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756914009 CA7463038 |
38 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA391608175 rs1597408061 |
40 | N>I | No |
ClinGen Ensembl |
|
| TCGA novel | 42 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7463039 rs764936679 |
42 | S>W | No |
ClinGen ExAC |
|
|
rs1178902758 CA391608193 |
43 | D>N | No |
ClinGen Ensembl |
|
|
CA391608202 rs1250982507 |
44 | S>N | No |
ClinGen TOPMed |
|
|
rs758201805 CA7463042 |
45 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758201805 CA7463041 |
45 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758201805 CA268621396 |
45 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7463043 rs751508767 |
45 | A>V | No |
ClinGen ExAC |
|
|
CA7463046 rs748125909 |
46 | L>* | No |
ClinGen ExAC |
|
|
CA7463047 rs77459405 |
47 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7463049 rs146817012 |
49 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA268621405 COSM1261997 rs368069858 |
49 | D>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
rs771275591 CA7463050 |
50 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA7463052 rs760061242 |
51 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs768101609 CA7463053 |
52 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363879160 CA391608282 |
53 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs776230290 CA7463055 |
54 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391608285 rs1306768651 |
54 | L>V | No |
ClinGen TOPMed |
|
|
rs764986124 CA7463057 |
55 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs761188368 CA7463056 |
55 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs750086551 CA7463058 |
56 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139272250 CA7463059 |
59 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA391608393 rs1243041865 |
62 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA391608406 rs1476561920 |
63 | S>G | No |
ClinGen gnomAD |
|
|
CA7463060 rs766244052 |
63 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7463061 rs751499211 |
65 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs73374372 CA7463062 |
65 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780949913 CA7463063 |
66 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1358772160 CA391608546 |
71 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA391608623 rs1567505136 |
75 | W>* | No |
ClinGen Ensembl |
|
|
CA391608651 rs1421159042 |
76 | S>L | No |
ClinGen TOPMed |
|
|
rs1308884537 CA391608681 |
78 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7463065 rs756125332 |
78 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756125332 CA7463066 |
78 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391608686 rs756125332 |
78 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA268621427 rs867262336 |
79 | A>V | No |
ClinGen Ensembl |
|
|
CA7463068 rs771328309 |
80 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7463067 rs201334800 |
80 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1247770907 CA391608772 |
83 | R>H | No |
ClinGen gnomAD |
|
|
rs779317023 CA7463069 |
84 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779317023 CA268621432 |
84 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7463070 rs746172255 |
85 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA391608824 rs1485346267 |
86 | Y>C | No |
ClinGen TOPMed |
|
|
rs1027078709 CA268621435 |
87 | D>A | No |
ClinGen TOPMed |
|
|
CA391608884 rs1449254909 |
89 | T>I | No |
ClinGen gnomAD |
|
|
rs141734203 CA7463072 |
90 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761400357 CA7463073 |
91 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370035921 CA7463074 |
92 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs576596254 CA7463075 |
92 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs35595072 CA268621442 |
94 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs552902642 CA7463076 |
96 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7463077 rs766077442 |
97 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs140024325 CA7463080 |
101 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7463079 rs751398584 |
101 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7463082 rs752567144 |
109 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7463083 rs752567144 |
109 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391609321 rs1431151182 |
114 | E>K | No |
ClinGen Ensembl |
|
|
CA391609487 rs1567505200 |
123 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 124 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1328796957 CA391609529 |
125 | N>S | No |
ClinGen gnomAD |
|
|
rs543566180 CA7463084 |
126 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1451284229 CA391609550 |
126 | A>V | No |
ClinGen TOPMed |
|
|
rs1280831807 CA391609577 |
128 | A>P | No |
ClinGen gnomAD |
|
|
rs754112182 CA7463085 |
129 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs755085688 CA7463089 |
136 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7463090 rs755085688 |
136 | P>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 138 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1474853461 CA391609857 |
143 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs747486867 CA7463092 |
143 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 143 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780762811 CA268621464 |
145 | D>G | No |
ClinGen Ensembl |
|
|
CA391609969 rs1182596460 |
150 | T>A | No |
ClinGen gnomAD |
|
|
rs769475705 CA7463093 |
151 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs375166420 CA391610060 |
154 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391610036 rs1171987682 COSM3769574 |
154 | E>K | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA7463095 rs748764234 |
155 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs201137112 CA7463096 |
156 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs990665500 CA391610107 |
157 | V>F | No |
ClinGen TOPMed |
|
|
CA268621470 rs990665500 |
157 | V>L | No |
ClinGen TOPMed |
|
|
rs1274236134 CA391610135 |
159 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 159 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773813522 CA7463099 |
164 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7463100 rs759430250 |
165 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA7463101 rs199891832 |
167 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1283124018 CA391610246 |
168 | V>A | No |
ClinGen gnomAD |
|
|
CA391610281 rs1225684746 |
171 | P>S | No |
ClinGen gnomAD |
|
|
rs202141977 CA7463103 |
175 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1338950189 CA391610344 |
176 | F>L | No |
ClinGen gnomAD |
|
|
CA391610401 rs1340202805 |
180 | R>S | No |
ClinGen gnomAD |
|
|
CA7463105 rs560002445 |
184 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 184 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757261104 CA7463106 |
185 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1269463685 CA391610470 |
186 | P>L | No |
ClinGen gnomAD |
|
|
CA7463108 rs750598314 |
187 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA391610476 rs1228953585 |
187 | Y>H | No |
ClinGen TOPMed |
|
|
CA7463109 rs758835595 |
188 | L>R | No |
ClinGen ExAC |
|
|
rs1422738394 CA391610546 |
192 | M>R | No |
ClinGen gnomAD |
|
|
rs1422738394 CA391610545 |
192 | M>T | No |
ClinGen gnomAD |
|
|
CA391610565 rs1462166842 |
194 | G>R | No |
ClinGen gnomAD |
|
|
rs747327538 CA7463111 |
197 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA391610652 rs1404197974 |
201 | F>C | No |
ClinGen gnomAD |
|
|
CA391610662 rs1346676803 |
202 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA391610659 rs1303252445 COSM276719 |
202 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA268621489 rs201890653 |
206 | F>S | No |
ClinGen Ensembl |
|
|
CA391610719 rs1276697139 |
207 | V>A | No |
ClinGen gnomAD |
|
|
CA391610717 rs1392198085 |
207 | V>L | No |
ClinGen TOPMed |
|
|
rs1475751197 CA391610742 |
210 | S>F | No |
ClinGen TOPMed |
|
|
rs1172805076 CA391610738 |
210 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 210 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA268621491 rs547379354 |
212 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA391610751 rs1253224045 |
212 | I>T | No |
ClinGen gnomAD |
|
|
rs547379354 CA7463113 |
212 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs527624224 CA7463114 |
214 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202024701 CA7463115 |
214 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1567505326 CA391610768 |
215 | G>A | No |
ClinGen Ensembl |
|
|
rs1292642095 CA391610785 |
218 | K>E | No |
ClinGen gnomAD |
|
|
CA268621494 rs769615144 |
218 | K>N | No |
ClinGen Ensembl |
|
|
CA268621497 rs1052564183 |
221 | I>L | No |
ClinGen Ensembl |
|
|
rs774123573 CA7463117 |
221 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA391610840 rs1428824059 |
226 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 228 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163634831 CA391610898 |
234 | V>I | No |
ClinGen gnomAD |
|
|
CA391610932 rs1366974984 |
238 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 239 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775289821 CA7463120 |
241 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7463121 rs760422907 |
242 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs935022293 CA391610952 |
242 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA268621502 rs935022293 |
242 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1383090228 CA391610958 |
243 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs377322220 CA268621506 |
243 | P>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 243 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7463122 rs764024087 |
245 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1339426785 CA391610970 |
245 | R>K | No |
ClinGen TOPMed |
|
|
rs776494909 CA7463123 |
247 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7463124 rs150028814 |
249 | V>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA391611021 rs1214542742 |
252 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7463127 rs750705018 |
255 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7463128 rs763106066 |
257 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460597138 CA391611051 |
257 | K>R | No |
ClinGen gnomAD |
|
|
CA268621518 rs946418983 |
259 | P>S | No |
ClinGen gnomAD |
|
|
rs946418983 CA391611061 |
259 | P>T | No |
ClinGen gnomAD |
|
|
rs199581079 CA391611096 |
264 | Q>E | No |
ClinGen gnomAD |
|
|
rs199581079 CA268621521 |
264 | Q>K | No |
ClinGen gnomAD |
|
|
CA268621523 rs1044827368 |
267 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 267 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391611127 rs1452386734 |
268 | T>I | No |
ClinGen gnomAD |
|
|
CA7463132 rs781778443 |
270 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1385297700 CA391611138 |
270 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1385297700 CA391611137 |
270 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7463133 rs753249085 |
271 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 272 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 272 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7463134 rs377101769 |
274 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1306444515 CA391611158 |
274 | G>S | No |
ClinGen gnomAD |
|
|
rs1241182628 CA391611164 |
275 | L>M | No |
ClinGen gnomAD |
|
|
rs1597408392 CA391611171 |
276 | K>T | No |
ClinGen Ensembl |
|
|
TCGA novel CA7463137 rs771657889 |
278 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
rs1244557660 CA391611185 |
278 | Y>C | No |
ClinGen gnomAD |
|
|
CA268621531 rs905331328 |
279 | V>I | No |
ClinGen gnomAD |
|
|
CA7463139 rs148860727 |
280 | L>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768428971 CA7463140 |
280 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA391611206 rs1420189685 |
282 | E>Q | No |
ClinGen gnomAD |
|
|
CA7463141 rs775301641 |
283 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs142561291 CA391611221 |
284 | Q>* | No |
ClinGen ESP |
|
|
CA268621537 rs142561291 |
284 | Q>E | No |
ClinGen ESP |
|
|
rs761631964 CA7463142 |
285 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA391611244 rs1469572007 |
286 | G>V | No |
ClinGen gnomAD |
|
|
rs1177623423 CA391611284 COSM960788 |
289 | W>* | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs769720800 CA391611310 |
291 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA7463143 rs769720800 |
291 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7463145 rs370574731 |
293 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391611346 rs1374222712 |
294 | H>P | No |
ClinGen gnomAD |
|
|
CA391611390 rs1343795200 |
298 | G>S | No |
ClinGen gnomAD |
|
|
CA391611399 rs1567505451 |
298 | G>V | No |
ClinGen Ensembl |
|
|
CA391611407 rs1240448924 |
299 | M>T | No |
ClinGen TOPMed |
|
|
CA7463147 rs751815133 |
299 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391611424 rs1299026304 |
300 | N>T | No |
ClinGen gnomAD |
|
|
CA268621547 rs377184439 |
302 | K>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 304 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767965674 CA7463150 |
305 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA7463149 rs767965674 |
305 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA391611528 rs1203446581 |
310 | S>* | No |
ClinGen gnomAD |
|
|
CA7463153 rs778306367 |
311 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs141918057 CA7463154 |
312 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA391611534 rs1481289569 |
312 | R>S | No |
ClinGen gnomAD |
|
|
rs897113333 CA391611547 |
314 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs897113333 CA268621555 |
314 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA391611573 rs1267319413 |
317 | L>* | No |
ClinGen gnomAD |
|
|
rs746661880 CA7463157 |
319 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA391611642 rs1408416118 |
320 | D>E | No |
ClinGen gnomAD |
|
|
rs1335088067 CA391611796 |
328 | V>A | No |
ClinGen TOPMed |
|
|
rs1442724517 CA391611787 |
328 | V>I | No |
ClinGen TOPMed |
|
|
CA391611808 rs1344780980 |
329 | F>S | No |
ClinGen gnomAD |
|
|
CA7463164 rs146189712 |
331 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7463165 rs146189712 |
331 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391611845 rs1433118348 |
332 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 336 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391611937 rs1295796376 |
338 | M>I | No |
ClinGen gnomAD |
|
|
rs370825077 CA7463167 |
338 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7463166 rs773140925 |
338 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1308912488 CA391612007 |
343 | L>F | No |
ClinGen gnomAD |
|
|
rs879042878 CA268621568 |
347 | R>G | No |
ClinGen Ensembl |
|
|
rs771127773 CA7463168 |
347 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs374332052 CA268621571 |
348 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374332052 CA7463169 |
348 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7463170 rs759813201 |
349 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271703582 CA391612097 |
350 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1028031513 CA268621575 |
351 | V>A | No |
ClinGen TOPMed |
|
|
CA391612110 rs1028031513 |
351 | V>D | No |
ClinGen TOPMed |
|
|
CA391612107 rs1190239924 |
351 | V>F | No |
ClinGen TOPMed |
|
|
CA391612115 rs1186334333 |
352 | G>R | No |
ClinGen gnomAD |
|
|
rs537919517 CA7463172 COSM3386837 |
355 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1430570302 CA391612152 |
355 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7463173 rs537919517 |
355 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1345270158 CA391612167 |
356 | L>F | No |
ClinGen TOPMed |
|
|
CA391612185 rs1285989787 |
358 | R>G | No |
ClinGen TOPMed |
|
|
CA7463175 rs754356304 |
358 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA391612212 rs1224113525 |
360 | Q>E | No |
ClinGen TOPMed |
|
|
CA7463178 rs765845518 |
360 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs757914394 CA7463177 |
360 | Q>R | No |
ClinGen ExAC |
|
|
rs1453704940 CA391612228 COSM218473 |
361 | I>F | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA7463179 rs751020688 |
362 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1567505548 CA391612272 |
364 | D>N | No |
ClinGen Ensembl |
|
|
CA391612278 rs1356115673 |
364 | D>V | No |
ClinGen TOPMed |
|
|
CA268621598 rs1017662701 |
367 | K>E | No |
ClinGen Ensembl |
|
|
CA391612326 rs1189671525 |
368 | R>G | No |
ClinGen gnomAD |
|
| rs760924179 | 368 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7463184 rs367890705 |
369 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371796208 CA7463186 |
372 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1359466459 CA391612382 |
372 | G>R | No |
ClinGen gnomAD |
|
|
CA7463185 rs371796208 |
372 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7463189 rs528777226 |
373 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7463190 rs528777226 |
373 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs138899089 CA7463188 |
373 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1181914227 CA391612412 |
375 | V>I | No |
ClinGen gnomAD |
|
|
rs761004001 CA7463192 |
376 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777046035 CA7463194 |
379 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs765690362 CA7463196 |
380 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA391612500 rs1406247967 |
381 | E>G | No |
ClinGen TOPMed |
|
|
rs200427620 CA7463197 |
382 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200427620 CA7463198 |
382 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA268621617 rs922515302 |
386 | K>R | No |
ClinGen Ensembl |
|
|
CA7463199 rs767462668 |
387 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1475834593 CA391612636 |
389 | D>H | No |
ClinGen TOPMed |
|
|
rs755898988 CA7463202 |
390 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7463203 rs777599767 |
390 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 392 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA268621624 rs956875379 |
393 | V>L | No |
ClinGen Ensembl |
|
|
CA391612768 rs1484435474 |
395 | M>R | No |
ClinGen TOPMed |
|
| TCGA novel | 397 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757294356 CA7463205 |
398 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 398 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369406137 CA7463209 |
401 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391612910 rs1242707712 |
402 | D>V | No |
ClinGen gnomAD |
|
|
rs1567505626 CA391612969 |
405 | I>T | No |
ClinGen Ensembl |
|
|
CA391612961 rs1338618079 |
405 | I>V | No |
ClinGen gnomAD |
|
|
CA391613068 rs1185460133 |
410 | R>I | No |
ClinGen gnomAD |
|
|
rs372947964 CA7463210 |
412 | G>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 416 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs956552271 CA391613187 |
417 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs989171624 CA268621634 |
418 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1231515295 CA391613203 |
419 | R>C | No |
ClinGen TOPMed |
|
|
CA391613202 rs1231515295 |
419 | R>G | No |
ClinGen TOPMed |
|
|
CA268621638 rs572756199 |
419 | R>H | No |
ClinGen 1000Genomes |
|
|
rs1231515295 CA7463211 |
419 | R>S | No |
ClinGen TOPMed |
|
|
rs1270926029 CA391613229 |
422 | V>M | No |
ClinGen TOPMed |
|
|
COSM1220274 rs1410079275 CA391613242 |
423 | D>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1159020710 CA391613237 |
423 | D>N | No |
ClinGen gnomAD |
|
|
rs768952033 CA7463214 |
426 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1470775516 CA391613278 |
428 | M>T | No |
ClinGen gnomAD |
|
|
rs762097255 CA391613286 |
429 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs762097255 CA7463216 |
429 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA7463217 rs770298188 |
430 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773695816 CA7463218 |
432 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs199666899 CA7463219 COSM960795 |
433 | S>L | endometrium Variant assessed as Somatic; 4.636e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 434 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752339998 CA7463221 |
436 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1202456932 CA391613391 |
438 | L>F | No |
ClinGen gnomAD |
|
|
rs760400678 CA7463223 |
438 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1437249159 CA391613416 |
440 | S>Y | No |
ClinGen gnomAD |
|
|
rs1597408646 CA391613437 |
442 | P>S | No |
ClinGen Ensembl |
|
|
rs138211698 CA7463226 |
444 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7463225 rs138211698 |
444 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7463224 rs763616605 |
444 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7463227 rs149600946 |
445 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1429821976 CA391613475 |
445 | R>H | No |
ClinGen gnomAD |
|
|
rs750383046 CA7463228 |
448 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA391613507 rs1186695891 |
448 | H>Y | No |
ClinGen TOPMed |
|
|
CA7463229 rs758592003 |
449 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1468794660 CA391613559 |
451 | W>* | No |
ClinGen TOPMed |
|
|
CA7463232 rs780161773 |
451 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780161773 CA7463231 |
451 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA268621661 rs752923559 |
452 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs543850602 CA7463233 |
457 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA391613642 rs543850602 |
457 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1211749299 CA391613661 |
458 | H>R | No |
ClinGen TOPMed |
|
|
rs1403706297 CA391613673 |
459 | L>F | No |
ClinGen gnomAD |
|
|
CA7463234 rs781212435 |
459 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs748569305 CA7463235 |
460 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA391613682 rs1346478943 |
460 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 461 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758586238 CA268621668 |
463 | T>I | No |
ClinGen gnomAD |
|
|
rs758586238 CA391613722 |
463 | T>R | No |
ClinGen gnomAD |
|
|
rs1296416370 CA391613759 |
466 | N>K | No |
ClinGen TOPMed |
|
|
CA7463238 rs377704139 |
466 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391613763 rs1489838405 |
467 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA391613777 rs1269540185 |
468 | Y>C | No |
ClinGen gnomAD |
|
|
rs771290397 CA7463239 |
468 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs562049984 CA7463241 |
469 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775099513 CA7463240 |
469 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763824460 CA7463242 |
471 | F>L | No |
ClinGen ExAC |
|
|
rs753531056 CA7463244 |
473 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA268621683 rs1041653813 |
474 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 476 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765094227 CA7463245 |
476 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7463246 rs750436257 |
478 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA391613921 rs1169136077 |
478 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7463247 rs758385273 |
479 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA268621691 rs897424382 |
480 | M>I | No |
ClinGen TOPMed |
|
|
CA7463248 rs779787036 |
481 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 481 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748334129 CA7463253 |
484 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7463255 rs770189864 |
485 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 485 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391614080 rs1597408714 |
488 | A>S | No |
ClinGen Ensembl |
|
|
rs1245345947 CA391614102 |
490 | I>F | No |
ClinGen gnomAD |
|
|
CA391614110 rs1198406545 |
490 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1170494838 CA391614108 |
490 | I>T | No |
ClinGen TOPMed |
|
|
rs1387921941 CA391614122 |
492 | R>I | No |
ClinGen TOPMed |
|
|
CA391614130 rs1195127145 |
493 | M>T | No |
ClinGen TOPMed |
|
|
rs1292344105 CA391614149 |
496 | K>E | No |
ClinGen gnomAD |
|
|
CA391614154 rs1252181679 |
496 | K>N | No |
ClinGen TOPMed |
|
| rs1454502156 | 496 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189351982 CA391614169 |
498 | H>R | No |
ClinGen TOPMed |
|
|
rs1489451210 CA391614175 |
499 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 502 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447202800 CA391614224 |
506 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 508 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774666836 CA7463259 |
508 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391614239 rs1383007157 |
509 | P>A | No |
ClinGen gnomAD |
|
|
rs768046561 CA7463261 |
512 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA391614277 rs1369531736 |
514 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1157192038 CA391615040 |
517 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA391615041 rs1157192038 |
517 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7463264 rs764936669 |
518 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773143937 CA7463265 |
518 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7463266 rs762596063 |
521 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs1380881178 CA391615063 |
521 | G>E | No |
ClinGen gnomAD |
|
|
CA391615068 rs1007583108 |
522 | R>I | No |
ClinGen TOPMed |
|
|
rs766395985 CA7463267 |
522 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1007583108 CA268621730 |
522 | R>T | No |
ClinGen TOPMed |
|
|
rs149562901 CA7463268 |
523 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA268621737 rs145029965 |
524 | F>L | No |
ClinGen ESP TOPMed |
|
|
rs145029965 CA391615079 |
524 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs1567505802 CA391615085 |
525 | P>T | No |
ClinGen Ensembl |
|
|
CA391615098 rs1597408772 |
526 | K>N | No |
ClinGen Ensembl |
|
|
rs1567505805 CA391615095 |
526 | K>R | No |
ClinGen Ensembl |
|
|
rs866038112 CA268621739 |
527 | S>G | No |
ClinGen Ensembl |
|
|
rs1323424359 CA391615101 |
527 | S>N | No |
ClinGen gnomAD |
|
|
rs755121127 CA7463269 |
528 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236864844 CA391615108 |
528 | I>V | No |
ClinGen gnomAD |
|
|
CA7463270 rs138819947 |
529 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752721483 CA391615126 |
531 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752721483 CA7463271 |
531 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749680772 CA391615134 |
533 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749680772 CA7463274 |
533 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7463276 rs865791900 |
535 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA7463278 rs757552596 |
536 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1456580436 CA391615166 |
537 | P>L | No |
ClinGen gnomAD |
|
|
CA391615177 rs1176551134 |
539 | G>A | No |
ClinGen TOPMed |
|
|
CA7463280 rs746331134 |
540 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7463281 rs768331620 |
540 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA391615181 rs768331620 |
540 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs776305449 CA7463282 |
541 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7463283 rs747623640 |
543 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391615217 rs1381354179 |
545 | C>F | No |
ClinGen gnomAD |
|
| TCGA novel | 547 | Q>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391615230 rs1485449103 |
547 | Q>R | No |
ClinGen TOPMed |
|
|
CA391615239 rs1336304127 |
548 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7463286 rs559941553 |
549 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA268621752 rs559941553 |
549 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1257412519 CA391615274 |
553 | K>R | No |
ClinGen gnomAD |
|
|
CA7463288 rs766057390 |
555 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA391615292 rs747393974 |
556 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA268621755 rs547120974 |
556 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7463289 rs747393974 |
556 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391615304 rs1567505858 |
558 | E>Q | No |
ClinGen Ensembl |
|
|
CA391615308 rs1473226598 |
558 | E>V | No |
ClinGen gnomAD |
|
|
CA7463290 rs759410500 |
559 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1480322005 CA391615318 |
560 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752780793 CA7463292 |
560 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391615326 rs1361145852 |
561 | Y>C | No |
ClinGen gnomAD |
|
|
rs1371056409 CA391615361 |
563 | C>S | No |
ClinGen gnomAD |
|
|
rs1455088097 CA391615371 |
564 | A>T | No |
ClinGen TOPMed |
|
|
rs1270637086 CA391615382 |
564 | A>V | No |
ClinGen gnomAD |
|
|
rs779125361 CA391615389 |
565 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7463297 rs779125361 COSM172882 |
565 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA391615442 rs1344578315 |
568 | V>I | No |
ClinGen gnomAD |
|
|
rs1302907045 CA391615457 |
569 | P>A | No |
ClinGen gnomAD |
|
|
rs781757437 CA7463299 |
569 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA391615520 rs1207845102 |
572 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs146400359 CA7463301 |
572 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7463302 rs201029692 |
574 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs968098219 CA268621768 |
575 | C>R | No |
ClinGen Ensembl |
|
|
CA391615595 rs1486375345 |
577 | E>D | No |
ClinGen TOPMed |
|
|
CA391615607 rs1192160622 |
578 | I>N | No |
ClinGen gnomAD |
|
|
CA391615626 rs1169820625 |
579 | Y>* | No |
ClinGen gnomAD |
|
|
rs1427004053 CA391615616 |
579 | Y>N | No |
ClinGen gnomAD |
|
|
rs1390929112 CA391615629 |
580 | H>N | No |
ClinGen gnomAD |
|
|
CA391615639 rs1431724081 |
580 | H>Q | No |
ClinGen gnomAD |
|
|
rs1301146770 CA391615645 |
581 | T>A | No |
ClinGen gnomAD |
|
|
rs1180297793 CA7463304 |
581 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1180297793 CA7463305 |
581 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs748865965 CA7463308 |
584 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs770560794 | 584 | N>I | Variant assessed as Somatic; 4.752e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770560794 | 584 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7463309 COSM3956578 rs770564985 |
584 | N>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1310080998 CA391615697 |
584 | N>T | No |
ClinGen TOPMed |
|
|
CA391615692 rs748865965 |
584 | N>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1385278447 CA391615711 |
585 | Y>* | No |
ClinGen TOPMed |
|
|
CA7463310 rs774042417 |
585 | Y>N | No |
ClinGen ExAC gnomAD |
No associated diseases with Q96DM1
1 regional properties for Q96DM1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Phosphofructokinase domain | 99 - 464 | IPR000023 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSNPRKRSIP | MRDSNTGLEQ | LLAEDSFDES | DFSEIDDSDN | FSDSALEADK | IRPLSHLESD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GKSSTSSDSG | RSMKWSARAM | IPRQRYDFTG | TPGRKVDVSD | ITDPLQYFEL | FFTEELVSKI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TRETNAQAAL | LASKPPGPKG | FSRMDKWKDT | DNDELKVFFA | VMLLQGIVQK | PELEMFWSTR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PLLDTPYLRQ | IMTGERFLLL | FRCLHFVNNS | SISAGQSKAQ | ISLQKIKPVF | DFLVNKFSTV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YTPNRNIAVD | ESLMLFKGPL | AMKQYLPTKR | VRFGLKLYVL | CESQSGYVWN | ALVHTGPGMN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LKDSADGLKS | SRIVLTLVND | LLGQGYCVFL | DNFNISPMLF | RELHQNRTDA | VGTARLNRKQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IPNDLKKRIA | KGTTVARFCG | ELMALKWCDG | KEVTMLSTFH | NDTVIEVNNR | NGKKTKRPRV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IVDYNENMGA | VDSADQMLTS | YPSERKRHKV | WYKKFFHHLL | HITVLNSYIL | FKKDNPEHTM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SHINFRLALI | ERMLEKHHKP | GQQHLRGRPC | SDDVTPLRLS | GRHFPKSIPA | TSGKQNPTGR |
| 550 | 560 | 570 | 580 | ||
| CKICCSQYDK | DGKKIRKETR | YFCAECDVPL | CVVPCFEIYH | TKKNY |