Q8NEC7
PR
Gene name |
GSTCD |
Protein name |
Glutathione S-transferase C-terminal domain-containing protein |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79807 |
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 Q8NEC7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8NEC7-F1 | Predicted | AlphaFoldDB |
499 variants for Q8NEC7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357816034 rs1348141294 |
4 | I>V | No |
ClinGen gnomAD |
|
|
CA357816060 rs1457451416 |
5 | K>N | No |
ClinGen TOPMed |
|
|
rs374188482 CA3033555 |
7 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA357816097 rs1485191908 |
8 | L>F | No |
ClinGen gnomAD |
|
|
CA3033557 rs371952831 |
10 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766584771 CA3033558 |
12 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1379989010 CA357816259 |
19 | S>P | No |
ClinGen gnomAD |
|
|
CA3033560 rs759828899 |
20 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs565912642 CA3033561 |
21 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs76079605 CA102792886 |
25 | C>F | No |
ClinGen 1000Genomes |
|
|
CA357816416 rs1393682387 |
26 | I>T | No |
ClinGen gnomAD |
|
|
CA3033562 rs753197339 |
28 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA102792896 rs914603593 |
29 | L>F | No |
ClinGen TOPMed |
|
|
rs756553850 CA3033563 |
30 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA3033564 rs756553850 |
30 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 31 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389238075 CA357816597 |
35 | L>V | No |
ClinGen gnomAD |
|
|
CA3033567 rs779798391 |
41 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs746668905 CA3033568 |
41 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 43 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357816771 rs1253064059 |
44 | K>R | No |
ClinGen gnomAD |
|
|
CA3033570 rs754764622 |
45 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA357816791 rs1286301763 |
45 | I>N | No |
ClinGen gnomAD |
|
|
CA3033571 rs574838418 |
47 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3033572 rs769588003 |
48 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773201025 CA357816864 |
49 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs773201025 CA3033573 |
49 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3033574 rs749307898 |
50 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 52 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357816916 rs1315909529 |
52 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs999168735 CA102792966 |
55 | E>G | No |
ClinGen Ensembl |
|
|
CA3033575 rs376626541 |
55 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357817001 rs1171550152 |
56 | V>M | No |
ClinGen gnomAD |
|
|
rs1375357765 CA357817035 |
58 | R>T | No |
ClinGen gnomAD |
|
|
rs767826772 CA3033578 |
59 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3033577 rs200804571 |
59 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774514638 CA3033576 |
59 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA357817048 rs200804571 |
59 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1323534751 CA357817125 |
61 | S>L | No |
ClinGen gnomAD |
|
|
CA357817193 rs1298952607 |
65 | D>N | No |
ClinGen TOPMed |
|
|
CA357817209 rs1386104202 |
65 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 65 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754414231 CA3033582 |
66 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3033583 rs762490621 |
69 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 70 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138011523 CA3033584 |
71 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3033586 rs754566924 |
72 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs928701323 CA102793047 |
73 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1388146280 CA357817384 |
74 | Q>* | No |
ClinGen TOPMed |
|
|
CA3033587 rs780940333 |
74 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177487517 CA357817388 |
74 | Q>R | No |
ClinGen TOPMed |
|
|
rs1180537969 CA357817397 |
75 | I>F | No |
ClinGen gnomAD |
|
|
rs1187266307 CA357817403 |
75 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 76 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3033588 rs752430225 |
76 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357817438 rs1381190467 |
78 | R>G | No |
ClinGen gnomAD |
|
|
CA3033589 rs755995154 |
78 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1400308480 CA357817465 |
79 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs777619504 CA102793069 |
80 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA102793080 rs908538263 |
82 | P>S | No |
ClinGen TOPMed |
|
|
rs536437556 CA102793085 |
83 | P>A | No |
ClinGen Ensembl |
|
|
rs749254698 CA3033591 |
84 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779162298 CA102793090 |
86 | Q>P | No |
ClinGen Ensembl |
|
|
rs778940683 CA3033593 |
88 | C>Y | No |
ClinGen ExAC |
|
|
CA102793099 rs1055999004 |
90 | L>W | No |
ClinGen TOPMed |
|
|
CA3033594 rs565132490 |
92 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772177221 CA3033595 |
94 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3033596 rs775835856 |
96 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3033597 rs760887131 |
96 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769150623 CA3033598 |
98 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA357817656 rs1232337273 |
99 | N>H | No |
ClinGen TOPMed |
|
|
CA3033599 rs372810120 |
99 | N>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs762435398 CA3033600 |
101 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA357817688 rs1297688695 |
103 | A>V | No |
ClinGen TOPMed |
|
|
rs1235289174 CA357817703 |
106 | A>S | No |
ClinGen gnomAD |
|
|
rs866784872 CA102793117 |
106 | A>V | No |
ClinGen Ensembl |
|
|
rs530436868 CA3033602 |
108 | V>I | No |
ClinGen 1000Genomes ExAC |
|
|
CA357817718 rs1432967010 |
109 | L>V | No |
ClinGen TOPMed |
|
|
CA102793129 rs751003984 |
111 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA3033603 rs751003984 |
111 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3033605 rs767064676 |
112 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199886614 CA3033604 |
112 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA3033606 rs752398024 |
113 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3033608 rs752564203 |
116 | S>* | No |
ClinGen ExAC |
|
|
CA102793164 rs868719065 |
116 | S>F | No |
ClinGen Ensembl |
|
|
rs777564420 CA3033609 |
116 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs763281884 CA102793168 |
117 | Y>C | No |
ClinGen Ensembl |
|
|
rs1049898210 CA102793171 |
118 | E>D | No |
ClinGen Ensembl |
|
|
rs1560791666 CA357817782 |
119 | A>T | No |
ClinGen Ensembl |
|
|
rs1476390024 CA357817811 |
123 | K>E | No |
ClinGen gnomAD |
|
|
rs1462874413 CA357817818 |
124 | K>E | No |
ClinGen TOPMed |
|
|
CA102793175 rs886800323 COSM1594196 |
124 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3033610 rs376008811 |
125 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774671068 CA3033611 |
126 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs944423828 CA102793199 |
131 | G>D | No |
ClinGen Ensembl |
|
|
CA357817867 rs1418958080 |
132 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA357817868 rs1418958080 |
132 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3033614 rs149089047 |
132 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357817891 rs1325142727 |
135 | T>A | No |
ClinGen gnomAD |
|
|
rs1462368690 CA357817894 |
135 | T>I | No |
ClinGen TOPMed |
|
|
rs1412685335 CA357817899 |
136 | C>F | No |
ClinGen gnomAD |
|
|
rs61736388 CA3033615 |
136 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780076734 CA3033616 |
137 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs140831171 CA3033617 |
139 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA357817917 rs1199636775 |
139 | A>T | No |
ClinGen TOPMed |
|
|
rs750375486 CA3033633 |
144 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357818549 rs1578406780 |
144 | S>R | No |
ClinGen Ensembl |
|
|
rs201818127 CA3033634 |
146 | W>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201818127 CA3033635 |
146 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1578406795 CA357818604 |
147 | T>A | No |
ClinGen Ensembl |
|
|
rs747110136 CA3033636 |
148 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA102793716 rs979713720 |
148 | R>T | No |
ClinGen Ensembl |
|
|
CA357818639 rs1278290040 |
150 | C>R | No |
ClinGen gnomAD |
|
|
rs1235962663 CA357818716 |
154 | I>T | No |
ClinGen gnomAD |
|
|
CA3033638 rs781630130 |
154 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1560792322 CA357818782 |
159 | E>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 160 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3033640 rs201190623 |
163 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 164 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273134268 CA357818874 |
167 | D>E | No |
ClinGen gnomAD |
|
|
rs773551692 CA3033641 |
170 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768349216 CA3033642 |
171 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1411439522 CA357818909 |
173 | P>S | No |
ClinGen gnomAD |
|
|
CA357818917 rs1168119533 |
174 | V>A | No |
ClinGen gnomAD |
|
|
CA357818937 rs1398340329 |
177 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3033645 rs760242639 |
178 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA357818951 rs1373305259 |
180 | E>K | No |
ClinGen gnomAD |
|
|
rs1467496639 CA357818961 |
181 | K>E | No |
ClinGen gnomAD |
|
|
rs763719886 CA3033646 |
182 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 183 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776275733 CA3033647 |
184 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA357818998 rs1363342517 |
186 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs931099078 CA102793785 |
187 | V>I | No |
ClinGen Ensembl |
|
|
CA102793791 rs946418536 |
188 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs538556119 CA3033649 |
189 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3033650 rs765114470 |
190 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs750283745 CA3033651 |
191 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3033652 rs554947332 |
193 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766270192 CA3033653 |
194 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA357819065 rs1469873999 |
195 | L>F | No |
ClinGen gnomAD |
|
|
CA3033654 rs751686166 |
196 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs187758649 CA3033655 |
196 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs187758649 CA3033656 |
196 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61736387 CA357819131 |
199 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1395060344 CA357819140 |
200 | L>H | No |
ClinGen TOPMed |
|
|
rs1459108864 CA357819192 |
203 | Q>R | No |
ClinGen TOPMed |
|
|
rs1165930462 CA357819202 |
204 | K>E | No |
ClinGen gnomAD |
|
|
rs756497481 CA3033658 |
206 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397043152 CA357819230 |
206 | D>N | No |
ClinGen gnomAD |
|
|
CA3033659 rs193103492 |
207 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3033661 rs771464345 |
208 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771464345 CA357819263 |
208 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749654075 CA3033660 |
208 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA102793855 rs201118415 |
210 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 211 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3033664 rs768157077 |
215 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA102793898 rs776222904 |
216 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3033665 rs776222904 |
216 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022897686 CA102793903 |
217 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel CA3033666 rs577380458 |
218 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC gnomAD NCI-TCGA |
|
CA3033667 rs146700341 |
219 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3033669 rs140280455 |
221 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3033668 rs773032706 |
221 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1475410386 CA357819454 |
222 | H>Y | No |
ClinGen gnomAD |
|
|
rs751556728 CA3033671 |
224 | Q>* | No |
ClinGen ExAC |
|
|
TCGA novel rs145276245 CA3033672 |
224 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA |
|
CA102793916 rs113774471 |
224 | Q>R | No |
ClinGen Ensembl |
|
|
CA357819522 rs1471955154 |
226 | T>A | No |
ClinGen gnomAD |
|
|
rs1162694755 CA357819535 |
227 | S>P | No |
ClinGen gnomAD |
|
|
CA357819572 rs1331610767 |
229 | G>V | No |
ClinGen TOPMed |
|
|
CA357819598 rs767738201 |
231 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs767738201 CA3033673 |
231 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs767738201 CA102793924 |
231 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA357819623 rs1286879282 |
232 | S>A | No |
ClinGen TOPMed |
|
|
rs1439653577 CA357819718 |
236 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs756328603 CA3033675 |
236 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA357819721 rs1439653577 |
236 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs202238798 CA3033676 |
238 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA102793960 rs78165835 |
239 | L>R | No |
ClinGen Ensembl |
|
|
rs1388048179 CA357819790 |
239 | L>V | No |
ClinGen TOPMed |
|
|
CA102793965 rs868200182 |
242 | A>T | No |
ClinGen Ensembl |
|
|
CA357819836 rs1560792659 |
242 | A>V | No |
ClinGen Ensembl |
|
|
rs901205763 CA102793969 |
243 | F>L | No |
ClinGen Ensembl |
|
|
CA357819870 rs1243643980 |
244 | S>L | No |
ClinGen gnomAD |
|
|
rs757571084 CA3033678 |
245 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779323571 CA3033679 |
246 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237410400 CA357819910 |
247 | T>I | No |
ClinGen gnomAD |
|
|
rs976577391 CA357819913 |
248 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs976577391 CA102793975 |
248 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 249 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3033682 rs768108380 |
252 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1378203215 CA357819987 |
252 | P>T | No |
ClinGen TOPMed |
|
|
CA357820001 rs1440857500 |
253 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA357820003 rs1440857500 |
253 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3033683 rs780660961 |
253 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA357820028 rs1252477208 |
255 | T>A | No |
ClinGen TOPMed |
|
|
rs747701669 CA3033684 |
256 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1209552658 CA357820043 |
257 | R>G | No |
ClinGen TOPMed |
|
|
CA102794000 rs958317832 |
258 | E>Q | No |
ClinGen Ensembl |
|
|
rs762752688 CA3033687 |
259 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3033686 rs772799536 |
259 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1379385396 CA357820070 |
261 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1223060944 CA357820081 |
262 | I>T | No |
ClinGen Ensembl |
|
|
rs774391651 CA3033689 |
264 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs985135755 CA102794031 |
265 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA357820126 rs1329116901 |
266 | K>T | No |
ClinGen gnomAD |
|
|
rs771141010 CA102794033 |
267 | A>P | No |
ClinGen Ensembl |
|
|
rs1277165443 CA357820162 |
268 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 268 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147454455 CA3033691 |
269 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3033692 rs752819968 |
270 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1344034668 CA357820179 |
271 | P>L | No |
ClinGen gnomAD |
|
|
rs1253963057 CA357820175 |
271 | P>S | No |
ClinGen gnomAD |
|
|
CA3033694 rs375032398 |
272 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375032398 CA3033695 |
272 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757599766 CA3033696 |
273 | L>V | No |
ClinGen ExAC |
|
|
rs1459293299 CA357820189 |
274 | E>K | No |
ClinGen gnomAD |
|
|
CA357820190 rs1459293299 |
274 | E>Q | No |
ClinGen gnomAD |
|
|
CA3033699 rs758873576 |
275 | H>R | No |
ClinGen ExAC |
|
|
CA357820208 rs1455044028 |
276 | V>A | No |
ClinGen gnomAD |
|
|
CA357820207 rs1455044028 |
276 | V>G | No |
ClinGen gnomAD |
|
|
CA357820204 rs1293353676 |
276 | V>M | No |
ClinGen Ensembl |
|
|
CA357820219 rs1178875624 |
278 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1402797469 CA357820223 |
278 | A>V | No |
ClinGen TOPMed |
|
|
CA3033700 rs780609618 |
279 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747684888 CA357820229 |
279 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA357820224 rs1376501790 |
279 | E>Q | No |
ClinGen gnomAD |
|
|
rs149442660 CA3033702 |
281 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA102794107 rs1057262212 |
284 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs777417634 CA3033703 |
284 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs896075267 CA102794108 |
286 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 287 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748927070 CA3033704 |
288 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1578407265 CA357820281 |
288 | I>V | No |
ClinGen Ensembl |
|
|
CA3033705 rs770712190 |
290 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3033706 rs774256305 |
291 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs745723934 CA357820313 |
293 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA3033707 rs745723934 |
293 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA102794114 rs1044607988 |
294 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs953841023 CA102797830 |
299 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs953841023 CA357820366 |
299 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs755612149 CA3033721 |
300 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA357820381 rs1560796532 |
301 | I>T | No |
ClinGen Ensembl |
|
|
CA3033723 rs748868852 |
304 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 307 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425223856 CA357820441 |
310 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3033727 rs771994187 |
313 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3033728 rs775453863 |
316 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357820480 rs1454190074 |
316 | A>T | No |
ClinGen gnomAD |
|
|
CA357820489 rs776670505 |
317 | S>F | No |
ClinGen gnomAD |
|
|
CA102797861 rs776670505 |
317 | S>Y | No |
ClinGen gnomAD |
|
|
CA102797874 rs867006029 |
318 | W>* | No |
ClinGen Ensembl |
|
|
CA3033729 rs750244149 |
321 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA357820518 rs1313302248 |
321 | R>S | No |
ClinGen gnomAD |
|
|
rs1380109813 CA357820541 |
324 | E>D | No |
ClinGen gnomAD |
|
|
rs1310590743 CA357820557 |
327 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
CA357820555 rs1310590743 |
327 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1490606562 CA357820581 |
331 | A>T | No |
ClinGen TOPMed |
|
|
rs1288763238 CA357820589 |
332 | A>S | No |
ClinGen gnomAD |
|
|
rs1168420003 CA357820592 |
332 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762021760 CA3033734 |
333 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs762021760 CA3033733 |
333 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs931408493 CA102797912 |
334 | K>E | No |
ClinGen Ensembl |
|
|
CA3033735 rs773440373 |
335 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA357820628 rs1280680159 |
338 | Q>R | No |
ClinGen TOPMed |
|
|
rs752058665 CA3033738 |
339 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA3033739 rs752058665 |
339 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA357820640 rs1255125668 |
340 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 340 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768135705 CA3033740 |
341 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1159986693 CA357820658 |
343 | P>S | No |
ClinGen gnomAD |
|
|
rs1378370608 CA357820689 |
347 | T>K | No |
ClinGen gnomAD |
|
|
rs1419054748 CA357820693 |
348 | T>A | No |
ClinGen gnomAD |
|
|
rs1419054748 CA357820692 |
348 | T>P | No |
ClinGen gnomAD |
|
|
rs1365952352 CA357820705 |
350 | T>A | No |
ClinGen TOPMed |
|
|
rs753272463 CA3033741 |
350 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357820707 rs753272463 |
350 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3033743 rs778637904 |
351 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357820720 rs1159092756 |
352 | Q>R | No |
ClinGen TOPMed |
|
|
rs1560796754 CA357820729 |
353 | H>R | No |
ClinGen Ensembl |
|
|
rs1301309020 CA357820736 |
354 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3033746 rs779688839 |
357 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357820753 rs779688839 |
357 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3033747 rs746863932 |
357 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA357820766 rs1352088776 CA357820765 |
358 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs768475694 CA3033748 |
360 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1271336249 CA357820775 |
360 | P>S | No |
ClinGen TOPMed |
|
|
CA357820781 rs1578412821 |
361 | G>D | No |
ClinGen Ensembl |
|
|
CA3033751 rs200295723 |
363 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1356374443 CA357820797 |
364 | E>K | No |
ClinGen Ensembl |
|
|
COSM1594191 rs1236514025 CA357820821 COSM1049795 |
367 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1179924431 CA357820836 |
369 | L>V | No |
ClinGen gnomAD |
|
|
CA357820844 rs1285983354 |
370 | F>L | No |
ClinGen TOPMed |
|
|
CA357820854 rs1227263386 |
371 | I>T | No |
ClinGen TOPMed |
|
|
rs1235851288 CA357820857 |
372 | G>R | No |
ClinGen gnomAD |
|
|
rs1438944293 CA357820862 |
372 | G>V | No |
ClinGen gnomAD |
|
|
rs1194191890 CA357820866 |
373 | G>E | No |
ClinGen gnomAD |
|
|
CA3033754 rs763186621 |
374 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771235545 CA3033755 |
374 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3033757 rs760002177 |
375 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767853965 CA3033758 |
378 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 381 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446221641 CA357820925 |
382 | M>I | No |
ClinGen gnomAD |
|
|
CA3033759 rs753252314 |
382 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA102799445 rs896446451 |
384 | K>N | No |
ClinGen Ensembl |
|
|
CA357820948 rs1341526906 |
384 | K>Q | No |
ClinGen gnomAD |
|
|
CA357820957 rs1485739342 |
385 | G>D | No |
ClinGen TOPMed |
|
|
rs144017046 CA3033778 |
385 | G>S | No |
ClinGen ESP ExAC |
|
|
rs768565642 CA102799447 |
386 | I>T | No |
ClinGen Ensembl |
|
|
rs749951686 CA3033779 |
389 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 390 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357820991 rs1275894601 |
390 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA357821012 rs1316969279 |
393 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1228361263 CA357821019 |
394 | P>H | No |
ClinGen gnomAD |
|
|
rs1395151753 CA357821018 |
394 | P>S | No |
ClinGen gnomAD |
|
|
rs762612925 CA357821026 |
395 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3033780 rs762612925 |
395 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765893846 CA3033781 |
397 | T>A | No |
ClinGen ExAC TOPMed |
|
|
CA3033782 rs751233029 |
397 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1000781346 CA102799456 |
398 | W>S | No |
ClinGen TOPMed |
|
|
rs781064841 CA3033784 |
399 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357821050 rs781064841 |
399 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1578415168 CA357821052 |
400 | L>I | No |
ClinGen Ensembl |
|
|
CA102799461 rs1032406422 |
401 | D>G | No |
ClinGen TOPMed |
|
|
rs1489143306 CA357821058 |
401 | D>N | No |
ClinGen gnomAD |
|
|
CA102799463 rs1016406283 |
404 | V>A | No |
ClinGen Ensembl |
|
|
CA357821084 rs1191298312 |
404 | V>F | No |
ClinGen gnomAD |
|
|
CA3033785 rs752539429 |
405 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs777744074 CA3033787 |
406 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3033788 rs375632667 |
407 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357821103 rs757362297 |
408 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3033789 rs757362297 |
408 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA102799481 rs975152239 |
409 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA357821113 rs1361799976 |
410 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 412 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140843076 CA3033792 |
413 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140843076 CA3033791 |
413 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760420892 CA3033829 |
419 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA357968707 rs763899318 |
420 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA3033831 COSM200565 rs753620399 |
420 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA357968711 rs1259025752 |
421 | A>P | No |
ClinGen gnomAD |
|
|
CA357968733 rs1459136578 |
424 | K>R | No |
ClinGen gnomAD |
|
|
CA357968739 rs1250400751 |
425 | Q>E | No |
ClinGen gnomAD |
|
|
rs765152330 CA3033833 |
425 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1201399728 CA357968756 |
427 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA357968787 rs1376299665 |
431 | L>H | No |
ClinGen gnomAD |
|
|
CA3033834 rs750501001 |
433 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3033835 rs758423767 |
434 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 438 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357968911 rs1388466686 |
449 | C>Y | No |
ClinGen gnomAD |
|
|
CA3033838 rs780359104 |
450 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3033840 rs755349586 |
451 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs781673308 CA3033842 |
452 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279057715 CA357968928 |
452 | G>W | No |
ClinGen gnomAD |
|
|
rs1398721817 CA357968954 |
454 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3033863 rs756437346 |
456 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs778300033 CA3033864 |
458 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA357968996 rs771473421 |
461 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391974878 CA357968993 |
461 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3033866 rs771473421 |
461 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs928684352 CA103397720 |
464 | P>Q | No |
ClinGen Ensembl |
|
|
CA103397722 rs746162194 |
465 | S>* | No |
ClinGen Ensembl |
|
|
CA103397999 rs1016638914 |
471 | I>V | No |
ClinGen gnomAD |
|
|
rs1176569847 CA357969154 |
472 | E>V | No |
ClinGen gnomAD |
|
|
rs752891902 CA3033880 |
474 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA103398000 rs1032568332 |
474 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
COSM1049802 rs754237074 CA3033884 COSM1209145 |
480 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs754237074 CA357969237 |
480 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3033885 rs376690441 |
480 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3033886 rs376690441 |
480 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357969240 rs1223538858 |
481 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 484 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369912444 CA3033887 |
485 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA103398001 rs1024622730 |
485 | S>N | No |
ClinGen TOPMed |
|
|
rs781710899 CA103398002 |
486 | D>G | No |
ClinGen TOPMed |
|
|
CA3033888 rs754452761 |
488 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1262195688 CA357969310 |
491 | S>N | No |
ClinGen gnomAD |
|
|
rs1457814304 CA357969314 |
491 | S>R | No |
ClinGen gnomAD |
|
|
rs1236250265 CA357969321 |
492 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs545057649 CA3033890 |
492 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1469588790 CA357969323 |
493 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1483024147 CA357969344 |
495 | F>L | No |
ClinGen TOPMed |
|
|
rs970367238 CA103398003 |
496 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 497 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61736397 CA3033891 |
500 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357969378 rs1194677191 |
500 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3033893 rs772856722 |
501 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3033894 rs770982485 |
502 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357969419 rs1428924486 |
506 | M>K | No |
ClinGen gnomAD |
|
| TCGA novel | 506 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350525854 CA357969417 |
506 | M>V | No |
ClinGen TOPMed |
|
|
rs1466181167 CA357969434 |
508 | N>D | No |
ClinGen gnomAD |
|
|
CA357969444 rs1333483682 |
509 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 510 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3033896 rs759646572 |
510 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 512 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 514 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369491040 CA3033919 |
515 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357969517 rs1560854073 |
518 | V>A | No |
ClinGen Ensembl |
|
|
rs201518782 CA3033924 |
520 | T>A | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA103398849 rs974237341 |
522 | M>I | No |
ClinGen gnomAD |
|
|
rs752138122 CA3033926 |
522 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1462583793 CA357969557 |
524 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA357969555 rs1387635250 |
524 | I>T | No |
ClinGen TOPMed |
|
|
rs1423314292 CA357969575 |
527 | C>R | No |
ClinGen gnomAD |
|
|
CA3033927 rs372510155 |
527 | C>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3033928 rs777504198 |
529 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753565382 CA3033929 |
531 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357969602 rs1421975654 |
531 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs757016785 CA3033930 |
532 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA357969623 rs137883958 |
534 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745737813 CA3033933 |
535 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs745737813 CA3033932 |
535 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3033934 rs780054069 |
536 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357969634 rs1355572595 |
537 | C>R | No |
ClinGen gnomAD |
|
|
rs772109343 CA3033936 |
537 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA103398852 rs932328141 |
540 | C>* | No |
ClinGen Ensembl |
|
|
rs868555703 CA103398851 |
540 | C>F | No |
ClinGen gnomAD |
|
|
rs868555703 CA357969657 |
540 | C>Y | No |
ClinGen gnomAD |
|
|
rs1207354814 CA357969664 |
541 | Y>C | No |
ClinGen TOPMed |
|
|
CA3033938 rs762002576 |
542 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1578522735 CA357969668 |
542 | G>S | No |
ClinGen Ensembl |
|
|
rs375753714 CA3033940 |
546 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 546 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371454267 CA3033943 |
547 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200547905 CA3033945 |
549 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763673144 CA3033947 |
550 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753436701 CA3033948 |
551 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA103398854 rs775739230 |
551 | N>S | No |
ClinGen Ensembl |
|
|
rs1236567757 CA357969737 |
552 | F>C | No |
ClinGen gnomAD |
|
|
rs756961867 CA357969743 |
553 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs756961867 CA3033949 |
553 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA357969757 rs1350150441 |
555 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 555 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 556 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1222938723 CA357969783 |
557 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA357969830 rs1487961526 |
563 | S>* | No |
ClinGen TOPMed |
|
|
rs375687733 CA3033968 |
564 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375687733 CA3033969 |
564 | Y>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1246651990 CA357970039 |
568 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3033988 rs761366610 |
569 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764823495 CA3033989 |
569 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1194285892 CA357970054 |
570 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA357970069 rs1256251872 |
571 | C>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 572 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1049731696 CA103399624 |
573 | F>S | No |
ClinGen TOPMed |
|
|
rs772646111 CA3033990 |
576 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3033991 rs762636503 |
577 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA357970187 rs1384585663 |
577 | T>I | No |
ClinGen gnomAD |
|
|
rs1440045539 CA357970203 |
578 | A>V | No |
ClinGen gnomAD |
|
|
rs766013167 CA3033992 COSM1154271 COSM1049805 |
579 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA357970217 rs1202165071 |
580 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 581 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3033993 rs751357433 |
581 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA357970231 rs1288291204 |
583 | P>A | No |
ClinGen gnomAD |
|
|
CA357970235 rs1406911970 |
583 | P>L | No |
ClinGen gnomAD |
|
|
CA357970232 rs1288291204 |
583 | P>S | No |
ClinGen gnomAD |
|
|
CA3033994 rs754785260 |
584 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs752664464 CA3033996 |
585 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA3033997 rs756141476 |
585 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3033998 rs756141476 |
585 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357970247 rs1309631935 |
586 | R>K | No |
ClinGen gnomAD |
|
|
CA3034014 rs767324942 |
589 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA357970910 rs1261985975 |
590 | K>R | No |
ClinGen gnomAD |
|
|
CA3034015 rs752541394 |
592 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1307942023 CA357970923 |
592 | C>R | No |
ClinGen gnomAD |
|
|
CA3034016 rs371851801 |
593 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA357970943 rs1473423835 |
594 | C>* | No |
ClinGen TOPMed |
|
|
CA3034018 rs753893267 |
597 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs757285239 CA3034019 |
598 | L>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1209142 rs375779179 COSM1209141 CA3034020 |
600 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA357970979 rs750695972 |
600 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750695972 CA3034021 |
600 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780534468 CA357970981 |
601 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780534468 CA3034023 |
601 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780534468 CA357970980 |
601 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747446028 CA3034025 |
603 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 603 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3034024 rs747446028 |
603 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs200413352 CA103399900 |
604 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748768916 CA3034027 |
604 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA357971000 rs1258950951 |
605 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3034030 rs61736394 |
607 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA357971040 rs1215862023 |
610 | S>F | No |
ClinGen gnomAD |
|
|
rs373035544 CA3034034 |
611 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357971079 rs1222886712 |
616 | M>T | No |
ClinGen gnomAD |
|
|
CA3034035 rs775250225 |
618 | P>A | No |
ClinGen ExAC |
|
|
CA357971111 rs1182245536 CA357971112 |
620 | S>R | No |
ClinGen TOPMed |
|
|
rs760395783 CA3034036 |
621 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357971125 rs1490882690 |
622 | S>F | No |
ClinGen gnomAD |
|
|
rs764022530 CA3034038 |
623 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3034039 rs190401072 |
625 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs964627854 CA103399902 |
627 | M>T | No |
ClinGen Ensembl |
|
|
rs375257752 CA3034041 |
628 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs765384353 CA3034042 |
628 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs974988075 CA103399903 |
629 | V>G | No |
ClinGen Ensembl |
|
|
CA357971191 rs1164537795 |
632 | P>L | No |
ClinGen gnomAD |
|
|
CA3034044 rs758690077 |
633 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
No associated diseases with Q8NEC7
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
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 |
2 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKAIKKSLTE | EEYLYLDFSH | QTEGCIFPLH | TSVTLFLLSY | CDCKIFKICL | VVTKEVSRDS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SLLRDDLIQD | VEIQIISRQE | LPPIVQNCCL | PAVVERSDNF | CRAGLAVVLR | HIIQKSYEAD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PLKKELLELL | GFKKTCLKAC | AEVSQWTRLC | ELTIPLAIEN | FLRESSDQPP | TIPVEILQLE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KKLSEPVRVH | NDDKLRRQKL | KQQKADGVGP | PLTKGKAKSK | VHTQETSEGL | DSSSKSLELK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VAFSKLTVQE | EPATTNREPS | HIRKAKASDL | PPLEHVFAEG | LYFTLADIVL | LPCIHHFLVI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ISRKFSEKLV | EFPLLASWYQ | RIQEVPGVKT | AASKCGIQFL | HLPKLLTTST | EQHPNLCEVP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GVEEQSDPLF | IGGPRPTMAK | LMEKGIEVMF | SPHPCPTWTL | DWNVLPAAVS | PKEGKMSSDR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ALRKQQQLNN | LVYVVTNQAK | PGDRIVDFCS | GGGHVGIVLA | HMLPSCQVTL | IENKELSLIR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AKKRSDELGL | SNIWFIQANM | EYFTGMFNIG | VALHACGVAT | DMVIEHCIKT | RASFVTCPCC |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YGFIQNTSKF | NFPKSEQFKK | TLSYKEHMIL | CRFADQTAVQ | LPPQRRLIGK | QCMCLVDLDR |
| 610 | 620 | 630 | |||
| ARAAEECGYS | VQVISMEPES | CSPKNNMIVG | VPI |