Q9UPX0
Gene name |
IGSF9B (KIAA1030) |
Protein name |
Protein turtle homolog B |
Names |
Immunoglobulin superfamily member 9B, IgSF9B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:22997 |
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 Q9UPX0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UPX0-F1 | Predicted | AlphaFoldDB |
1203 variants for Q9UPX0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA383488761 rs1311667332 |
2 | I>M | No |
ClinGen TOPMed |
|
|
CA231289000 rs866519705 |
3 | W>C | No |
ClinGen Ensembl |
|
|
CA231288997 rs11600709 |
7 | T>S | No |
ClinGen Ensembl |
|
|
rs769753313 CA6369802 |
8 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6369801 rs747954751 |
13 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383488688 rs1266692584 |
13 | I>M | No |
ClinGen gnomAD |
|
|
rs1463664991 CA383488687 |
14 | G>S | No |
ClinGen TOPMed |
|
|
rs534731750 CA6369800 |
15 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383488675 rs1258941292 |
16 | R>* | No |
ClinGen gnomAD |
|
|
CA231288989 rs936337506 |
16 | R>L | No |
ClinGen Ensembl |
|
| TCGA novel | 16 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383488664 rs1248365838 |
18 | L>F | No |
ClinGen TOPMed |
|
|
rs1198308500 CA383488655 |
19 | A>V | No |
ClinGen gnomAD |
|
|
rs1316416179 CA383488654 |
20 | A>T | No |
ClinGen gnomAD |
|
|
rs1234547034 CA383488645 |
21 | E>A | No |
ClinGen gnomAD |
|
|
rs754906772 CA6369799 |
21 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1258170091 CA383488648 |
21 | E>Q | No |
ClinGen gnomAD |
|
|
rs866271734 CA231288986 |
22 | G>C | No |
ClinGen Ensembl |
|
|
CA6369769 rs370647370 |
23 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776590595 CA6369766 |
25 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA383486831 rs763227181 |
25 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6369767 rs763227181 |
25 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383486797 rs1267915537 |
26 | L>Q | No |
ClinGen TOPMed |
|
|
rs1483437539 CA383486793 |
27 | R>* | No |
ClinGen gnomAD |
|
|
rs1483437539 CA383486794 |
27 | R>G | No |
ClinGen gnomAD |
|
|
CA383486790 rs1236713916 |
27 | R>Q | No |
ClinGen gnomAD |
|
|
CA6369762 rs771888862 |
31 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6369763 rs569338296 |
31 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6369761 rs745394534 |
32 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA231280814 rs973184712 |
33 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6369760 rs778323736 |
34 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1312673504 CA383486680 |
35 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383486682 rs1312673504 |
35 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 38 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383486617 rs1462607531 |
40 | S>N | No |
ClinGen TOPMed |
|
|
CA231280774 rs1015047602 |
41 | V>M | No |
ClinGen Ensembl |
|
|
rs1342968569 CA383486576 |
44 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA383486573 rs377720540 |
44 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377720540 CA6369756 |
44 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370921168 CA6369754 |
46 | D>N | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA6369753 rs377626852 |
46 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6369751 rs766517121 |
47 | V>M | Variant assessed as Somatic; 0.0007014 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1215871399 CA383486499 |
49 | H>Y | No |
ClinGen gnomAD |
|
|
rs750712363 CA6369749 |
52 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs369339794 CA383486458 |
52 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6369748 rs369339794 |
52 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760574260 CA6369747 |
55 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6369745 rs767491228 |
56 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6369746 rs775086019 |
56 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs978200158 CA231280656 |
58 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 58 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565448676 CA383486384 |
59 | V>I | No |
ClinGen Ensembl |
|
|
CA6369743 rs774253587 |
60 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 62 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770472031 CA6369742 |
64 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA383486302 rs1458039694 |
64 | K>R | No |
ClinGen gnomAD |
|
|
CA383486280 rs1323017579 |
66 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779418793 CA383486270 |
67 | V>F | No |
ClinGen gnomAD |
|
|
rs779418793 CA231280605 |
67 | V>I | No |
ClinGen gnomAD |
|
|
rs1426679408 CA383486246 |
68 | P>L | No |
ClinGen gnomAD |
|
|
rs369053425 CA231280582 |
68 | P>S | No |
ClinGen ESP |
|
|
CA6369737 rs781372235 |
71 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA383486203 rs1192996731 |
71 | I>V | No |
ClinGen gnomAD |
|
|
CA231280563 rs867050292 |
73 | I>T | No |
ClinGen Ensembl |
|
|
rs755531136 CA6369736 |
74 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383486128 rs1591725142 |
77 | Y>S | No |
ClinGen Ensembl |
|
|
CA383486120 rs1591725139 |
78 | Y>S | No |
ClinGen Ensembl |
|
|
rs1304141127 CA383486110 |
79 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1369676278 CA383486104 |
80 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767164731 CA383486095 |
82 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6369727 rs767164731 |
82 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591725101 CA383486084 |
83 | D>E | No |
ClinGen Ensembl |
|
|
CA383486080 rs1400692699 |
84 | P>S | No |
ClinGen gnomAD |
|
|
CA231280511 rs902681377 |
87 | A>S | No |
ClinGen Ensembl |
|
|
rs1460342307 CA383486056 |
87 | A>V | No |
ClinGen gnomAD |
|
|
rs1333086571 CA383486003 |
89 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383486004 rs1158174189 |
89 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1565447441 CA383485995 |
90 | A>V | No |
ClinGen Ensembl |
|
|
CA383485993 rs1468815225 |
91 | S>G | No |
ClinGen gnomAD |
|
|
CA383485978 rs1370502182 |
93 | H>Y | No |
ClinGen gnomAD |
|
|
rs768340005 CA383485958 |
95 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1041177681 CA231279006 |
96 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1256009640 CA383485948 |
97 | S>Y | No |
ClinGen gnomAD |
|
|
CA6369699 rs761133437 |
99 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA231279000 rs776113610 |
99 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs772734726 CA6369697 |
101 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6369698 rs775926992 |
101 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA383485931 rs1282979373 |
101 | E>K | No |
ClinGen gnomAD |
|
|
rs201038366 CA6369696 |
103 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6369695 rs779449011 |
104 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770987447 CA6369694 |
104 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1591724186 CA383485862 |
111 | Y>D | No |
ClinGen Ensembl |
|
|
rs756264444 CA6369691 |
112 | E>K | No |
ClinGen ExAC |
|
|
CA231278936 rs967999088 |
113 | C>G | No |
ClinGen Ensembl |
|
| TCGA novel | 114 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6369690 rs751389646 |
114 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6369689 rs779775527 |
115 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA231278925 rs988072516 |
117 | M>R | No |
ClinGen Ensembl |
|
|
rs915103460 CA231278928 |
117 | M>V | No |
ClinGen Ensembl |
|
|
rs531377479 CA6369688 |
118 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750367616 CA6369687 |
119 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 121 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765216332 CA6369686 |
121 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA383485724 rs1416193470 |
124 | T>P | No |
ClinGen gnomAD |
|
|
CA383485684 rs1240943607 |
129 | S>N | No |
ClinGen gnomAD |
|
|
CA383485668 rs1591724136 |
131 | V>G | No |
ClinGen Ensembl |
|
|
CA383485664 rs1190395049 |
132 | H>Y | No |
ClinGen gnomAD |
|
|
rs1452891579 CA383485645 |
135 | I>V | No |
ClinGen gnomAD |
|
|
CA383485629 rs1332365234 |
137 | A>S | No |
ClinGen gnomAD |
|
|
CA383485630 rs1332365234 |
137 | A>T | No |
ClinGen gnomAD |
|
|
CA383485219 rs1416679830 |
140 | T>I | No |
ClinGen gnomAD |
|
|
rs1197545756 CA383485222 |
140 | T>S | No |
ClinGen Ensembl |
|
|
CA6369661 rs759835654 |
142 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6369660 rs774713364 |
142 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6369659 rs766829684 |
145 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs994379103 CA383485191 |
145 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs994379103 CA231273517 |
145 | P>T | No |
ClinGen gnomAD |
|
|
rs748221488 CA6369656 |
146 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6369655 rs748221488 |
146 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6369653 rs768807485 |
147 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768807485 CA6369654 |
147 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567657119 CA6369652 |
147 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed |
|
| rs748943611 | 147 | Q>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383485183 rs567657119 |
147 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA231273470 rs1019726655 |
149 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 150 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757162308 CA6369649 |
151 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs749292608 CA6369648 |
154 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs755746293 CA6369646 |
155 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA383485121 rs1224577107 |
156 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs752200759 CA6369645 |
157 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs968400971 CA231273439 |
158 | T>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 168 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA231273435 rs1020461247 |
170 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA231273431 rs767286232 |
172 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6369644 rs767286232 |
172 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1036334543 CA231273413 |
176 | E>D | No |
ClinGen TOPMed |
|
|
rs1043422140 CA231273419 |
176 | E>G | No |
ClinGen Ensembl |
|
|
VAR_076999 CA6369642 rs77432041 |
178 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA383484836 rs1418168726 |
179 | L>V | No |
ClinGen gnomAD |
|
|
CA6369635 rs768790374 |
181 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6369637 rs761894478 |
181 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6369636 rs768790374 |
181 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1291201881 CA383484814 |
183 | S>G | No |
ClinGen TOPMed |
|
|
CA6369634 rs760900317 |
183 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1163583218 CA383484657 |
188 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1591720739 CA383484625 |
190 | D>A | No |
ClinGen Ensembl |
|
|
rs780960492 CA6369610 |
191 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534012086 CA6369608 |
197 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6369606 rs757920233 |
198 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427958198 CA383484573 |
199 | S>G | No |
ClinGen gnomAD |
|
|
rs751480908 CA231272971 |
199 | S>I | No |
ClinGen Ensembl |
|
|
rs779198889 CA6369604 |
200 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750817042 CA6369605 |
200 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764502320 CA6369602 |
207 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs764502320 CA6369601 |
207 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1469084493 CA383484521 |
207 | T>P | No |
ClinGen gnomAD |
|
|
rs764502320 CA383484518 |
207 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs566589696 CA231272920 |
209 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
CA383484507 rs1212206028 |
209 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1181741080 CA383484500 |
210 | A>V | No |
ClinGen gnomAD |
|
|
CA231272917 rs980230298 |
215 | G>E | No |
ClinGen TOPMed |
|
|
CA383484456 rs1434114018 |
216 | E>D | No |
ClinGen TOPMed |
|
|
rs767814387 CA6369598 |
217 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs774696069 CA6369596 |
218 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6369597 rs539597363 |
218 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764109134 CA6369595 |
220 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 221 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383484422 rs1591720658 |
222 | H>P | No |
ClinGen Ensembl |
|
|
rs374705301 CA6369591 |
225 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771733376 CA6369589 |
226 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA383484396 rs1223690231 |
227 | G>R | No |
ClinGen TOPMed |
|
|
CA383484375 rs1354837763 |
228 | P>L | No |
ClinGen gnomAD |
|
|
CA383484376 rs1414117823 |
228 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 230 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766714994 CA6369560 |
232 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383484343 rs1332792411 |
233 | S>F | No |
ClinGen TOPMed |
|
|
rs758651233 CA6369559 |
233 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6369558 rs753689646 |
234 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA383484299 rs1235172280 |
240 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760484427 CA6369556 |
242 | I>V | No |
ClinGen ExAC |
|
|
rs767426835 CA6369554 |
251 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6369553 rs759057342 |
254 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6369550 rs762566041 |
257 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6369548 rs770124838 |
262 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA383483939 rs1271921419 |
265 | W>C | No |
ClinGen gnomAD |
|
|
rs1591719906 CA383483911 |
267 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 268 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369063193 CA6369546 VAR_077000 |
268 | E>K | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1180346565 CA383483861 |
270 | V>I | No |
ClinGen TOPMed |
|
|
rs780230762 CA6369543 |
271 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1591719718 CA383483235 |
275 | D>A | No |
ClinGen Ensembl |
|
|
rs1375550934 CA383483242 |
275 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383483182 rs1172580423 CA383483179 |
279 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs1412418017 CA383483157 |
281 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 283 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749882974 CA6369515 |
292 | R>L | No |
ClinGen ExAC |
|
|
rs1249503464 CA383482930 |
292 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 298 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761116943 CA6369510 |
302 | T>P | No |
ClinGen ExAC |
|
|
rs1310659739 CA383482637 |
303 | C>Y | No |
ClinGen gnomAD |
|
|
rs865926760 CA231271407 |
305 | P>S | No |
ClinGen Ensembl |
|
|
rs1304068599 CA383482510 |
308 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1224659760 CA383482478 |
309 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs772569549 CA6369508 |
311 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6369507 rs371595541 |
311 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1311753687 CA383482384 |
313 | P>H | No |
ClinGen gnomAD |
|
|
CA383482352 rs1159448590 |
315 | A>T | No |
ClinGen gnomAD |
|
|
rs1287079601 CA383482313 |
316 | S>L | No |
ClinGen TOPMed |
|
|
CA383482284 rs1166948986 |
317 | A>V | No |
ClinGen gnomAD |
|
|
rs865930197 CA231271351 |
320 | T>I | No |
ClinGen Ensembl |
|
|
rs1482345173 CA383482221 |
321 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383482186 rs758317351 |
322 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 325 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383481463 rs1454953059 |
325 | A>V | No |
ClinGen gnomAD |
|
|
CA383481442 rs1371057521 |
326 | R>H | No |
ClinGen TOPMed |
|
|
CA383481418 rs1487063601 |
327 | V>A | No |
ClinGen gnomAD |
|
|
CA6369479 rs749360747 |
327 | V>I | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 328 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA231268367 rs1011942837 |
332 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1252467371 CA383481226 |
332 | P>R | No |
ClinGen gnomAD |
|
|
CA383481230 rs1011942837 |
332 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 333 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746839644 CA6369476 |
336 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383481054 rs758104266 |
338 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6369474 rs758104266 |
338 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6369473 rs745856262 |
340 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs756885918 CA6369471 |
345 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6369470 rs753336790 |
345 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA6369469 rs777569629 |
347 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 350 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383480823 rs370753217 |
351 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 353 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6369465 rs546112408 |
356 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752170988 CA6369464 |
357 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6369463 rs766817947 |
359 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA383480656 rs1368859731 |
363 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA383480645 rs1343851795 |
364 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6369460 rs770027773 |
364 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762145949 CA6369459 |
365 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6369458 rs201068678 |
367 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA231268208 rs890364981 |
367 | Q>R | No |
ClinGen TOPMed |
|
|
CA6369416 rs769551430 |
373 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs747729889 CA6369415 |
375 | T>N | No |
ClinGen ExAC |
|
|
CA383480206 rs1397187948 |
383 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA231267708 rs769080055 |
383 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs768193104 CA6369412 |
388 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA383479934 rs1565436108 |
391 | A>S | No |
ClinGen Ensembl |
|
|
rs1354572863 CA383479913 |
394 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 396 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 402 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 402 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1179948032 CA383479855 |
403 | L>V | No |
ClinGen TOPMed |
|
|
CA383479800 rs1366316013 |
411 | P>L | No |
ClinGen TOPMed |
|
|
rs753973322 CA6369405 |
412 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383479782 rs1427030902 |
414 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 415 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6369404 rs764128270 |
415 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383479747 rs1333137874 |
418 | D>A | No |
ClinGen gnomAD |
|
|
rs1164465686 CA383479744 |
418 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA383479732 rs1412505262 |
420 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1412505262 CA383479731 |
420 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1412505262 CA383479733 |
420 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 421 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775604395 | 421 | Y>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6369373 rs759235034 |
423 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA6369371 rs771265548 |
429 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383479600 rs1440992717 |
435 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383479590 rs1270421560 |
436 | R>Q | No |
ClinGen gnomAD |
|
|
rs770385763 CA6369368 |
437 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA383479570 rs1329058561 |
439 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1229502334 CA383479543 |
441 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383479500 rs1283191535 |
443 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6369361 rs753598938 |
445 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753598938 CA6369362 |
445 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231267351 rs60185361 |
446 | G>R | No |
ClinGen Ensembl |
|
|
rs1263635847 CA383479364 |
451 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1013203421 CA231267342 |
452 | I>V | No |
ClinGen TOPMed |
|
|
rs760553519 CA6369359 |
453 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 455 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383479055 rs1189486282 |
458 | G>R | No |
ClinGen gnomAD |
|
|
CA383478993 rs1421322052 |
461 | S>I | No |
ClinGen TOPMed |
|
| TCGA novel | 463 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754452742 CA6369335 |
463 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs751042603 CA6369334 |
464 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1265429497 CA383478959 |
466 | S>C | No |
ClinGen gnomAD |
|
|
CA383478955 rs1218716136 |
466 | S>R | No |
ClinGen gnomAD |
|
|
rs1442012210 CA383478953 |
467 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA383478941 rs1343731607 |
469 | P>T | No |
ClinGen gnomAD |
|
|
CA383478920 rs1397229571 |
470 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA231266752 rs937884307 |
472 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA231266719 rs934532384 |
473 | L>V | No |
ClinGen TOPMed |
|
|
CA383478849 rs1280952945 |
476 | R>C | No |
ClinGen TOPMed |
|
|
CA6369330 rs765768154 |
476 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383478835 rs1303128639 |
477 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762257701 CA6369329 |
479 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1159135315 CA383478762 |
483 | H>Y | No |
ClinGen gnomAD |
|
|
rs536183899 CA6369327 |
485 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747087627 CA6369326 |
487 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6369325 rs775586659 |
489 | V>D | No |
ClinGen ExAC TOPMed |
|
|
rs1591717346 CA383478635 |
491 | T>P | No |
ClinGen Ensembl |
|
|
rs746140469 CA6369323 |
492 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1468741985 CA383478591 |
493 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs755959469 CA6369321 |
495 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1207027286 CA383478536 |
497 | I>L | No |
ClinGen gnomAD |
|
|
CA383478528 rs1178678105 |
497 | I>M | No |
ClinGen gnomAD |
|
|
CA383478507 rs1434170126 |
499 | A>V | No |
ClinGen gnomAD |
|
|
CA383478496 rs1328697509 |
500 | S>N | No |
ClinGen gnomAD |
|
|
rs933676801 CA231266656 |
501 | T>I | No |
ClinGen Ensembl |
|
|
rs1319767016 CA383478485 |
501 | T>S | No |
ClinGen TOPMed |
|
|
rs781141190 CA6369319 |
502 | H>R | No |
ClinGen ExAC |
|
|
rs757846727 CA6369316 |
505 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757846727 CA6369315 |
505 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383478423 rs1257439398 |
506 | I>T | No |
ClinGen gnomAD |
|
|
rs1339618438 CA383478429 |
506 | I>V | No |
ClinGen gnomAD |
|
|
CA6369312 rs754212212 |
507 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754212212 CA6369311 |
507 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468110951 CA383478353 |
508 | T>I | No |
ClinGen gnomAD |
|
|
rs1187734111 CA383478340 |
510 | P>L | No |
ClinGen gnomAD |
|
|
CA6369288 rs759615361 |
510 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA383478332 rs1422878441 |
511 | H>Q | No |
ClinGen gnomAD |
|
|
CA6369287 rs553723993 |
512 | A>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA6369286 rs757884632 |
513 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6369284 rs571405530 |
515 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745442843 CA231265221 |
516 | V>I | No |
ClinGen gnomAD |
|
|
rs780048209 CA6369281 |
517 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6369282 rs746726018 |
517 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745391066 CA6369279 |
519 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs756792287 CA6369277 |
519 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756792287 CA6369278 |
519 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366400719 CA383478263 |
523 | T>I | No |
ClinGen gnomAD |
|
|
CA383478246 rs1446231751 |
526 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6369276 rs753788252 CA6369274 |
527 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753788252 CA6369275 |
527 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1006389234 CA231265165 |
528 | S>C | No |
ClinGen TOPMed |
|
|
rs768092855 CA6369272 |
531 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755529980 CA6369271 |
534 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190145060 CA383478171 |
538 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA231263317 rs886617015 |
542 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 543 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190840879 CA383478136 |
543 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 545 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409953075 CA383478105 |
545 | M>L | No |
ClinGen gnomAD |
|
|
CA231261227 rs916382167 |
546 | K>N | No |
ClinGen TOPMed |
|
|
rs1326476694 CA383478087 |
547 | R>Q | No |
ClinGen gnomAD |
|
|
CA383478091 rs923705095 |
547 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA383478076 rs1415911264 |
549 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1425623511 CA383478062 |
551 | G>W | No |
ClinGen gnomAD |
|
|
rs978208347 CA231261212 |
552 | P>S | No |
ClinGen Ensembl |
|
|
rs1479412072 CA383478045 |
554 | D>N | No |
ClinGen gnomAD |
|
|
CA383478043 rs1479412072 |
554 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383478026 rs1414171001 |
556 | L>P | No |
ClinGen gnomAD |
|
|
CA383478021 rs1591715500 |
557 | S>A | No |
ClinGen Ensembl |
|
|
rs765515019 CA6369247 |
559 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383478008 rs1275035657 |
559 | P>S | No |
ClinGen TOPMed |
|
|
CA383478005 rs1232478466 |
560 | V>M | No |
ClinGen gnomAD |
|
|
rs761987498 CA6369246 |
561 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202725935 CA383477998 |
561 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 563 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322004093 CA383477975 |
565 | S>G | No |
ClinGen gnomAD |
|
|
rs1290792526 CA383477969 |
565 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA231261171 rs767482819 CA6369244 |
566 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416479189 CA383477968 |
566 | W>R | No |
ClinGen TOPMed |
|
|
rs1349355812 CA383477953 |
568 | L>P | No |
ClinGen gnomAD |
|
|
rs759391032 CA6369241 |
569 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759391032 CA383477947 |
569 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383477951 rs1277349289 |
569 | V>M | No |
ClinGen gnomAD |
|
|
CA383477943 rs1591715451 |
570 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 570 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383477918 rs1460728422 |
574 | P>A | No |
ClinGen TOPMed |
|
|
CA383477917 rs1460728422 |
574 | P>S | No |
ClinGen TOPMed |
|
|
CA383477902 rs770923328 |
576 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs770923328 CA6369239 |
576 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1457792941 CA383477895 |
577 | A>V | No |
ClinGen gnomAD |
|
|
rs1273100749 CA383477882 |
579 | Q>R | No |
ClinGen gnomAD |
|
|
rs747824828 CA6369235 |
582 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383477862 rs747824828 |
582 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383477851 rs1460281583 |
584 | A>S | No |
ClinGen gnomAD |
|
|
rs1272328329 CA383477849 |
584 | A>V | No |
ClinGen gnomAD |
|
|
rs1270519234 CA383477844 |
585 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 585 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209921502 CA383477823 |
587 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 589 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383477815 rs1315740284 |
589 | G>R | No |
ClinGen gnomAD |
|
|
rs780885348 CA383477807 |
590 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs780885348 CA6369234 |
590 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA231261121 rs1011852287 |
592 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383477798 rs1011852287 |
592 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs892029496 CA231261115 |
592 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383477789 rs1414799329 |
593 | F>C | No |
ClinGen gnomAD |
|
|
CA6369232 rs747309582 |
596 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383477696 rs1353135417 |
605 | P>R | No |
ClinGen gnomAD |
|
|
rs1178788517 CA383477682 |
607 | T>K | No |
ClinGen gnomAD |
|
|
CA383477680 rs1456610239 |
608 | T>A | No |
ClinGen TOPMed |
|
|
CA6369195 rs371345554 |
608 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA383477674 rs1429280982 |
609 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 610 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383477658 rs1473311658 |
611 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760357164 CA6369194 |
611 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1210627088 CA383477632 |
616 | T>N | No |
ClinGen gnomAD |
|
|
CA383477635 rs1591714805 |
616 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 616 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383477627 rs1281344043 |
617 | P>S | No |
ClinGen gnomAD |
|
|
rs376472314 CA231259997 |
621 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6369190 rs779291335 |
622 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383477594 rs1371540466 |
622 | I>T | No |
ClinGen gnomAD |
|
|
rs779291335 CA383477597 |
622 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304952286 CA383477580 |
624 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 626 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749401029 CA383477568 |
626 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs749401029 CA6369188 |
626 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6369187 rs369303772 |
629 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA383477550 rs369303772 |
629 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1220406014 CA383477545 |
630 | V>L | No |
ClinGen TOPMed |
|
|
rs1363876985 CA383477538 |
631 | L>F | No |
ClinGen gnomAD |
|
|
rs781509519 CA6369184 |
633 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1460729525 CA383477504 |
636 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1331240078 CA383477494 |
638 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA231259918 rs992871087 |
639 | N>K | No |
ClinGen Ensembl |
|
|
rs1261383854 CA383477462 |
642 | F>L | No |
ClinGen gnomAD |
|
|
rs757272235 CA6369180 |
645 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6369179 rs753741145 |
646 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs958668813 CA231259890 |
646 | R>H | No |
ClinGen gnomAD |
|
|
CA6369178 rs763656344 |
648 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs763656344 CA383477427 |
648 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA383477414 rs1157458585 |
649 | M>I | No |
ClinGen gnomAD |
|
|
CA231259856 rs1033560351 |
651 | F>L | No |
ClinGen gnomAD |
|
|
rs1369797597 CA383477398 |
652 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775133923 CA6369176 |
652 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202174159 CA6369174 |
654 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6369173 rs202174159 |
654 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 656 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6369172 rs771177519 |
656 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs749878076 CA6369171 |
656 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6369170 rs773841805 |
657 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748173547 CA6369168 |
660 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6369166 rs755182166 |
661 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 662 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA231259792 rs1004437425 |
662 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 663 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383477312 rs1228475345 |
665 | P>R | No |
ClinGen TOPMed |
|
|
CA383477316 rs1318280275 |
665 | P>S | No |
ClinGen gnomAD |
|
|
CA383477310 rs201122392 |
666 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201122392 CA6369162 |
666 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA231259745 rs1029799375 |
668 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 670 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs755622090 CA6369160 |
670 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs1383062099 CA383477246 |
675 | D>G | No |
ClinGen gnomAD |
|
|
CA231259731 rs999147308 |
675 | D>N | No |
ClinGen TOPMed |
|
|
rs1555089989 CA383477203 |
680 | T>A | No |
ClinGen Ensembl |
|
|
rs754434093 CA6369139 |
680 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 682 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343126073 CA383477167 |
684 | F>L | No |
ClinGen gnomAD |
|
|
CA6369136 rs763444651 |
685 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs574990325 CA6369134 |
686 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs371652510 CA6369132 |
689 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383477137 rs1248833591 |
690 | M>T | No |
ClinGen TOPMed |
|
|
CA383477131 rs1591714233 |
691 | Q>E | No |
ClinGen Ensembl |
|
|
rs768834718 CA6369131 |
692 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1175643435 CA383477106 |
694 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 696 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383477061 rs117328238 |
700 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383477062 rs1424530165 |
700 | I>S | No |
ClinGen TOPMed |
|
|
CA383477060 rs1470628751 |
701 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA383477057 rs1409679667 |
701 | A>V | No |
ClinGen TOPMed |
|
|
rs201162330 CA6369125 |
703 | V>I | Variant assessed as Somatic; 4.665e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201162330 CA231258681 |
703 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748182427 CA6369124 |
706 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 707 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383476991 rs1431513307 |
709 | F>L | No |
ClinGen gnomAD |
|
|
rs779753579 CA6369102 |
710 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779753579 CA231256926 |
710 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383476985 rs1426766295 |
711 | Q>* | No |
ClinGen gnomAD |
|
|
rs1386142280 CA383476980 |
711 | Q>H | No |
ClinGen gnomAD |
|
|
CA383476973 rs1163300474 |
712 | P>L | No |
ClinGen gnomAD |
|
|
CA383476975 rs1163300474 |
712 | P>Q | No |
ClinGen gnomAD |
|
|
rs1422208702 CA383476957 |
715 | T>A | No |
ClinGen gnomAD |
|
|
rs199890945 CA6369098 |
715 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764681033 CA6369096 |
716 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490405276 CA383476937 |
718 | G>E | No |
ClinGen gnomAD |
|
|
rs866031135 CA231256900 |
718 | G>W | No |
ClinGen Ensembl |
|
|
rs754028693 CA231256896 |
720 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754028693 CA6369094 |
720 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383476923 rs961821257 |
721 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA231256879 rs961821257 |
721 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA231256886 rs971906069 |
721 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs759598930 CA383476921 |
722 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs759598930 CA6369092 |
722 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6369091 rs548914129 |
728 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383476870 rs1366380840 |
731 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 735 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs182679983 CA231256866 |
736 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
| TCGA novel | 737 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761692468 CA6369089 |
738 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383476796 rs1591713239 |
742 | T>P | No |
ClinGen Ensembl |
|
|
rs1171640888 CA383476793 |
742 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383476783 rs1428427975 |
744 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 745 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776341848 CA6369088 |
746 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA383476765 rs1200922842 |
747 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383476764 rs1200922842 |
747 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383476728 rs1480497743 |
752 | R>C | No |
ClinGen gnomAD |
|
|
CA6369087 rs768469068 |
752 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383476713 rs1196857617 |
754 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6369086 rs201409996 |
754 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383476709 rs1565427174 |
755 | K>E | No |
ClinGen Ensembl |
|
|
rs775559136 CA6369084 |
758 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200622057 CA6369083 |
758 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200622057 CA383476685 |
758 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1406396885 CA383476683 |
759 | K>E | No |
ClinGen TOPMed |
|
|
CA383476680 rs1282810027 |
759 | K>R | No |
ClinGen gnomAD |
|
|
CA383476653 rs1489952469 |
761 | D>A | No |
ClinGen TOPMed |
|
|
rs1489952469 CA383476652 |
761 | D>G | No |
ClinGen TOPMed |
|
|
CA6369061 rs748959757 |
767 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA383476551 rs781680563 |
776 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781680563 CA6369057 |
776 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6369038 rs781574279 |
779 | S>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA231254524 rs749780538 |
780 | G>V | No |
ClinGen Ensembl |
|
|
CA6369037 rs769001870 |
782 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs902318396 CA231254505 |
784 | P>R | No |
ClinGen Ensembl |
|
|
rs376908469 CA6369035 |
788 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6369033 rs750480606 |
788 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750480606 CA231254473 |
788 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376908469 CA6369034 |
788 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs947845439 CA231254468 |
789 | T>M | No |
ClinGen TOPMed |
|
| TCGA novel | 790 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340650349 CA383476454 |
790 | L>P | No |
ClinGen gnomAD |
|
|
rs1251265858 CA383476451 |
791 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6369031 rs757605113 |
791 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6369030 rs754085054 |
792 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329059136 CA383476441 |
793 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767488814 CA6369029 |
793 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1237279979 CA383476433 |
794 | S>L | No |
ClinGen TOPMed |
|
| TCGA novel | 795 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1168456709 CA383476415 |
797 | S>F | No |
ClinGen gnomAD |
|
|
rs1591712553 CA383476407 |
798 | D>A | No |
ClinGen Ensembl |
|
|
CA383476412 rs1431528857 |
798 | D>N | No |
ClinGen gnomAD |
|
|
rs772827129 CA6369024 |
799 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383476386 rs1245251210 |
801 | G>D | No |
ClinGen gnomAD |
|
|
CA383476374 rs1198394019 |
803 | P>A | No |
ClinGen TOPMed |
|
|
rs764694587 CA6369023 |
803 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA383476373 rs1198394019 |
803 | P>S | No |
ClinGen TOPMed |
|
|
rs775887861 CA383476368 |
804 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs775887861 CA6369019 |
804 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs769018429 CA6369020 |
804 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769018429 CA383476370 |
804 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769018429 CA383476369 |
804 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775887861 CA6369018 |
804 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 805 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383476367 rs1218169527 |
805 | A>T | No |
ClinGen gnomAD |
|
|
CA231254361 rs933079900 |
806 | K>N | No |
ClinGen TOPMed |
|
|
rs772586048 CA6369017 |
806 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA383476353 rs1280946855 |
807 | R>K | No |
ClinGen gnomAD |
|
|
CA6369016 rs746341697 |
808 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555088671 CA383476346 |
808 | M>L | No |
ClinGen Ensembl |
|
|
CA6369014 rs757410424 |
810 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383476332 rs1454510637 |
810 | S>N | No |
ClinGen gnomAD |
|
|
CA6369012 rs778084061 |
812 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs373895799 CA6369011 |
813 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369340509 CA6369010 |
813 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373895799 CA383476316 |
813 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766065592 CA6369009 |
815 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 817 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA231254269 rs940179777 |
818 | S>A | No |
ClinGen Ensembl |
|
|
rs1463019856 CA383476281 |
818 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 819 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1591712472 CA383476267 |
821 | K>Q | No |
ClinGen Ensembl |
|
|
rs934091585 CA231254266 |
821 | K>R | No |
ClinGen Ensembl |
|
|
rs776267595 CA6369004 |
825 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs763692997 CA6369002 |
825 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6369003 rs776267595 |
825 | R>W | Variant assessed as Somatic; 4.964e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs975455776 CA231254231 |
826 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs975455776 CA231254221 |
826 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs760973291 CA6369001 |
827 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383476232 rs1352619627 |
827 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775975180 CA6369000 |
828 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA383476216 rs1383377250 |
829 | S>N | No |
ClinGen gnomAD |
|
|
rs772295879 CA6368999 |
830 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA383476192 rs1357513655 |
832 | Y>C | No |
ClinGen gnomAD |
|
|
rs746456964 CA6368998 |
832 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6368996 rs771150072 |
834 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1591712432 CA383476171 |
835 | A>D | No |
ClinGen Ensembl |
|
|
CA383476169 rs1565425731 |
836 | K>E | No |
ClinGen Ensembl |
|
|
CA6368995 rs749314712 |
840 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA383476140 rs1565425704 |
840 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1243344964 CA383476134 |
841 | A>P | No |
ClinGen gnomAD |
|
|
rs1020769230 CA231254091 |
843 | A>D | No |
ClinGen Ensembl |
|
|
rs1013360632 CA231254085 |
844 | T>I | No |
ClinGen gnomAD |
|
|
CA6368993 rs756408207 |
844 | T>P | No |
ClinGen ExAC |
|
|
CA383476107 rs1215939866 |
845 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA383476083 rs1224388994 |
849 | L>I | No |
ClinGen gnomAD |
|
|
CA383476042 rs1591712390 |
855 | D>A | No |
ClinGen Ensembl |
|
|
CA383476045 rs1359895349 |
855 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 856 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA231254056 rs1033824782 |
857 | R>C | No |
ClinGen gnomAD |
|
|
rs868608028 CA231254053 |
857 | R>H | No |
ClinGen Ensembl |
|
| TCGA novel | 858 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383476019 rs756787214 |
859 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756787214 CA6368986 |
859 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1591712354 CA383476002 |
861 | D>A | No |
ClinGen Ensembl |
|
|
CA383476005 rs1340059836 |
861 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6368985 rs753291865 |
862 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs763577077 CA6368983 |
863 | A>T | No |
ClinGen ExAC |
|
|
CA383475986 rs1164600920 |
864 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1186546008 CA383475976 |
865 | M>K | No |
ClinGen gnomAD |
|
|
rs1422336294 CA383475977 |
865 | M>V | No |
ClinGen gnomAD |
|
|
CA6368980 CA231254004 rs371884835 |
866 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA231254014 rs141682370 |
866 | E>G | No |
ClinGen 1000Genomes |
|
|
CA383475970 rs1565425518 |
866 | E>Q | No |
ClinGen Ensembl |
|
|
CA383475965 rs1565425500 |
867 | P>T | No |
ClinGen Ensembl |
|
|
CA383475947 rs1490427931 |
870 | K>E | No |
ClinGen gnomAD |
|
|
CA6368977 rs374352863 |
870 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1309160212 CA383475940 |
871 | S>G | No |
ClinGen gnomAD |
|
|
CA6368976 rs575342239 |
872 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383475928 rs1004492080 |
872 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6368975 rs370337864 |
873 | R>C | Variant assessed as Somatic; 4.677e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA231253957 rs370337864 |
873 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6368974 rs769756373 |
873 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383475927 rs370337864 |
873 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383475919 rs368087626 |
874 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6368973 rs748458206 |
874 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs535240111 CA383475913 |
875 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs932943837 CA231253946 |
875 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs745618211 CA6368970 |
876 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1565425391 CA383475905 |
877 | F>L | No |
ClinGen Ensembl |
|
|
CA383475884 rs1464598002 |
880 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1420816204 CA383475879 |
880 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6368967 rs753747605 |
881 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs936090495 CA231253915 |
883 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6368965 rs755568379 |
883 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA6368962 CA6368961 rs751924626 |
885 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA6368963 rs767013350 |
885 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383475842 rs1591712249 |
886 | Y>S | No |
ClinGen Ensembl |
|
|
CA6368960 rs267602785 |
887 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 887 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383475827 rs1217766703 |
888 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1200938554 CA383475830 |
888 | E>K | No |
ClinGen TOPMed |
|
|
CA6368959 rs377482045 |
888 | E>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA383475821 rs1591712242 |
889 | F>S | No |
ClinGen Ensembl |
|
|
CA6368958 rs374602069 |
890 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6368957 rs761729959 |
890 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6368956 rs761729959 |
890 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA6368954 rs768708526 |
892 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383475802 rs768708526 |
892 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383475794 rs376960400 |
893 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770712994 CA6368951 |
894 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1173518943 CA383475773 |
896 | N>I | No |
ClinGen gnomAD |
|
|
rs777515658 CA6368949 |
897 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368947 rs747571982 |
898 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs755657014 CA6368948 |
898 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780921757 CA6368946 |
899 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs551872835 CA6368944 |
901 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368945 rs551872835 |
901 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208266423 CA383475743 |
902 | P>S | No |
ClinGen gnomAD |
|
|
CA6368942 rs758777564 |
903 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375263727 CA383475729 |
904 | S>Y | No |
ClinGen gnomAD |
|
|
CA231253786 rs960489906 |
905 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 906 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA231253769 rs765619970 |
907 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6368940 rs765619970 |
907 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs776620314 CA6368938 |
908 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs764207468 CA6368937 |
910 | S>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 911 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749016843 CA383475676 |
913 | T>I | No |
ClinGen ExAC TOPMed |
|
|
rs1591712180 CA383475680 |
913 | T>P | No |
ClinGen Ensembl |
|
|
rs1591712180 CA383475678 |
913 | T>S | No |
ClinGen Ensembl |
|
|
rs749016843 CA6368933 |
913 | T>S | No |
ClinGen ExAC TOPMed |
|
|
rs200136452 CA6368931 |
914 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6368930 rs748096109 |
915 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1263623390 CA383475655 |
917 | S>F | No |
ClinGen TOPMed |
|
|
rs1255553093 CA383475659 |
917 | S>P | No |
ClinGen gnomAD |
|
|
CA6368929 rs780633188 |
918 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6368928 rs754522571 |
918 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6368927 rs746671161 |
919 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383475641 rs1351964129 |
920 | E>K | No |
ClinGen gnomAD |
|
|
CA383475640 rs1351964129 |
920 | E>Q | No |
ClinGen gnomAD |
|
|
rs758861754 CA6368925 |
922 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs750701608 CA6368924 |
925 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1383440519 CA383475598 |
927 | A>T | No |
ClinGen gnomAD |
|
|
rs533134144 CA6368922 |
929 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6368921 rs533134144 |
929 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383475573 rs1417572236 |
930 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1417572236 CA383475574 |
930 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs369321654 CA6368920 |
931 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383475571 rs763829457 |
931 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763829457 CA6368918 |
931 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6368919 rs369321654 |
931 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1457316216 CA383475561 |
933 | Q>E | No |
ClinGen gnomAD |
|
|
rs1158637791 CA383475555 |
933 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs551042626 CA383475551 |
934 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551042626 CA6368917 |
934 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375404016 CA6368916 |
935 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375404016 CA231253586 |
935 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373053404 CA6368913 |
935 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373053404 CA6368914 |
935 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373053404 CA6368915 |
935 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA231253524 rs1047657878 |
936 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6368909 rs779872070 |
938 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771896150 CA6368908 |
939 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771896150 CA383475531 |
939 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745498636 CA6368907 |
939 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1210867466 CA383475524 |
940 | P>R | No |
ClinGen gnomAD |
|
|
rs201878845 CA6368905 |
941 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383475514 rs1264236638 |
942 | G>C | No |
ClinGen gnomAD |
|
|
CA6368903 rs778188740 |
946 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6368902 rs756219238 |
946 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6368904 rs778188740 |
946 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591712066 CA383475482 |
948 | Q>K | No |
ClinGen Ensembl |
|
|
CA383475475 rs1438593775 |
949 | A>T | No |
ClinGen TOPMed |
|
|
CA6368900 rs767563740 |
950 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs368677086 CA6368899 |
950 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1323943798 CA383475462 |
951 | G>D | No |
ClinGen gnomAD |
|
|
CA383475457 rs1362771257 |
952 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6368897 rs764955623 |
954 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368898 rs573512453 |
954 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA231253406 rs752645864 |
956 | P>L | No |
ClinGen Ensembl |
|
|
rs546570473 CA6368893 |
957 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546570473 CA383475429 |
957 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6368894 rs564750590 |
957 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs546570473 CA383475428 |
957 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383475427 rs1379612607 |
958 | P>A | No |
ClinGen gnomAD |
|
|
CA6368892 rs775176299 |
959 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745569337 CA6368891 |
959 | R>P | No |
ClinGen ExAC TOPMed |
|
|
rs745569337 CA6368889 |
959 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
rs775176299 CA383475421 |
959 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6368887 rs771206542 |
961 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA383475403 rs749627499 |
962 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA6368886 rs749627499 |
962 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1216307262 CA383475396 |
963 | H>R | No |
ClinGen gnomAD |
|
|
CA6368885 rs778276636 |
963 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383475389 rs1215155783 |
964 | G>D | No |
ClinGen TOPMed |
|
|
CA6368884 rs756662862 |
964 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 966 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753172962 CA6368883 |
966 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1039873023 CA231253311 |
969 | Y>C | No |
ClinGen Ensembl |
|
|
CA6368882 rs781306282 |
970 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA383475346 rs1330707769 |
971 | S>R | No |
ClinGen gnomAD |
|
|
rs866220109 CA231253300 |
972 | S>N | No |
ClinGen gnomAD |
|
|
rs866220109 CA383475335 |
972 | S>T | No |
ClinGen gnomAD |
|
|
rs755027167 CA6368881 |
974 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 977 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 977 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6368879 rs751732770 |
978 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1173392191 CA383475291 |
979 | E>K | No |
ClinGen gnomAD |
|
|
CA6368878 rs766581832 |
980 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383475282 rs1477856522 |
980 | P>S | No |
ClinGen gnomAD |
|
|
CA6368877 rs375067578 |
982 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA383475268 rs375067578 |
982 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763945705 CA6368875 |
983 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs760757168 CA6368874 |
984 | Y>N | No |
ClinGen ExAC |
|
|
CA6368872 rs374101848 CA383475253 |
985 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6368871 rs374101848 |
985 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA383475231 rs1199510386 |
988 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 989 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773909542 CA6368870 |
990 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770569301 CA6368869 |
990 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs773909542 CA383475220 |
990 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376012250 CA383475215 |
991 | P>L | No |
ClinGen gnomAD |
|
|
CA6368868 rs574419265 |
991 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773607839 CA6368867 |
992 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA6368866 rs770140795 |
992 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA383475200 rs1360953499 |
994 | S>T | No |
ClinGen gnomAD |
|
|
rs1335009529 CA383475197 |
994 | S>Y | No |
ClinGen gnomAD |
|
|
rs1160772186 CA383475193 |
995 | V>A | No |
ClinGen gnomAD |
|
|
rs755042408 CA383475195 |
995 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755042408 CA6368863 |
995 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6368864 rs755042408 |
995 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368862 rs747060683 |
997 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779972982 CA6368861 |
997 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA231253134 rs747060683 |
997 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764035440 CA6368858 |
998 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6368859 rs750665355 |
998 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA383475170 rs1186275167 |
999 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs752691103 CA6368856 |
1000 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231253085 rs752691103 |
1000 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383475169 rs752691103 |
1000 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591711882 CA383475163 |
1001 | L>Q | No |
ClinGen Ensembl |
|
|
rs371141922 CA383475147 |
1004 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA231253047 rs926471951 |
1004 | E>G | No |
ClinGen Ensembl |
|
|
rs371141922 CA6368852 |
1004 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762662432 CA6368851 |
1005 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs748472799 CA6368848 |
1009 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs377729899 CA6368847 |
1010 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6368846 rs769251754 |
1012 | I>V | No |
ClinGen ExAC |
|
|
CA383475091 rs1407542741 |
1013 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6368842 rs746108822 |
1014 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6368843 rs758391200 |
1014 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264815887 CA383475074 |
1015 | E>D | No |
ClinGen gnomAD |
|
|
CA6368841 rs779212352 |
1016 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368839 rs752495171 |
1017 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383475065 rs375653574 CA6368840 |
1017 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6368837 rs370928243 |
1018 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555087963 CA383475051 |
1019 | N>S | No |
ClinGen Ensembl |
|
|
CA383475047 rs1349147053 |
1020 | A>T | No |
ClinGen TOPMed |
|
|
CA6368836 rs751449853 |
1020 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs765973590 CA6368835 |
1023 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1023 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762381409 CA6368834 |
1024 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762381409 CA383475017 |
1024 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772880801 CA383475010 |
1026 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs772880801 CA6368833 |
1026 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1029 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1029 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383474989 rs1565424135 |
1029 | Q>R | No |
ClinGen Ensembl |
|
|
rs377154332 CA231252900 |
1030 | T>A | No |
ClinGen ESP gnomAD |
|
|
rs1287461378 CA383474981 |
1030 | T>I | No |
ClinGen gnomAD |
|
|
CA6368832 rs570339893 |
1031 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1439075485 CA383474978 |
1031 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6368831 rs761431935 |
1032 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383474962 rs1477279695 |
1034 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6368829 rs768894435 |
1034 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs765281579 CA6368827 |
1035 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765281579 CA383474958 |
1035 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372950944 CA6368826 |
1035 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1359636241 CA383474944 |
1037 | P>L | No |
ClinGen TOPMed |
|
|
rs998476048 CA231252823 |
1039 | P>S | No |
ClinGen gnomAD |
|
|
CA383474935 rs998476048 |
1039 | P>T | No |
ClinGen gnomAD |
|
|
CA6368823 rs771331934 |
1040 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs749441174 CA6368822 |
1040 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1401113135 CA383474923 |
1041 | G>S | No |
ClinGen TOPMed |
|
|
CA383474918 rs1320082374 |
1041 | G>V | No |
ClinGen TOPMed |
|
|
rs754718181 CA6368821 |
1042 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751518848 CA6368819 |
1042 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368820 rs754718181 |
1042 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs189448957 CA6368818 |
1043 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1000341360 CA231252795 |
1045 | F>S | No |
ClinGen TOPMed |
|
|
CA6368814 rs199732960 |
1048 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375626015 CA6368816 CA383474881 |
1048 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199732960 CA6368815 |
1048 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383474878 rs1403149188 |
1049 | G>R | No |
ClinGen gnomAD |
|
| rs1464678670 | 1050 | L>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1050 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA231252728 rs879033911 |
1050 | L>V | No |
ClinGen Ensembl |
|
|
CA383474864 rs1397590941 |
1051 | E>G | No |
ClinGen gnomAD |
|
|
rs753417349 CA383474845 |
1054 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753417349 CA383474844 |
1054 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383474848 rs1177807243 |
1054 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs753417349 CA6368813 |
1054 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1212300949 CA383474843 |
1055 | M>V | No |
ClinGen gnomAD |
|
|
rs760885137 CA6368811 |
1056 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs776097851 CA6368810 |
1057 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA383474816 rs1457381154 |
1058 | P>R | No |
ClinGen gnomAD |
|
|
rs529303990 CA6368808 |
1058 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383474819 rs529303990 |
1058 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1249752779 CA383474813 |
1059 | H>Y | No |
ClinGen gnomAD |
|
|
rs1470484054 CA383474804 |
1060 | Q>* | No |
ClinGen TOPMed |
|
|
rs774614118 CA6368807 |
1061 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA383474792 rs1300993550 |
1062 | P>S | No |
ClinGen gnomAD |
|
|
rs771129862 CA6368806 |
1063 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383474780 rs1310634608 |
1064 | C>Y | No |
ClinGen gnomAD |
|
|
rs1239999799 CA383474771 |
1065 | D>G | No |
ClinGen Ensembl |
|
|
rs1249934534 CA383474774 |
1065 | D>H | No |
ClinGen gnomAD |
|
|
rs1445324912 CA383474759 |
1067 | P>S | No |
ClinGen gnomAD |
|
|
CA6368803 rs768526156 |
1068 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383474739 rs1443889401 |
1070 | L>V | No |
ClinGen TOPMed |
|
|
CA6368801 rs779802045 |
1072 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1330125949 CA383474725 |
1072 | P>S | No |
ClinGen TOPMed |
|
|
rs1335630665 CA383474709 |
1074 | A>V | No |
ClinGen TOPMed |
|
|
rs527279278 CA383474708 |
1075 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs778448330 CA6368798 |
1075 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs527279278 CA383474707 |
1075 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6368799 rs527279278 |
1075 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1177922369 CA383474702 |
1076 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 1077 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs187022741 CA383474691 |
1078 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1026565031 CA231252587 |
1078 | R>Q | No |
ClinGen TOPMed |
|
|
rs1483673764 CA383474280 |
1081 | P>L | No |
ClinGen gnomAD |
|
|
CA6368796 rs753530350 |
1081 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA383474275 rs1255662762 |
1082 | P>L | No |
ClinGen gnomAD |
|
|
CA6368795 rs763616584 |
1083 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA383474269 rs1591711599 |
1083 | T>P | No |
ClinGen Ensembl |
|
|
CA6368793 rs753055835 |
1084 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383474252 rs753055835 |
1084 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315704582 CA383474239 |
1085 | L>P | No |
ClinGen gnomAD |
|
|
CA383474218 rs1314215952 |
1087 | V>L | No |
ClinGen gnomAD |
|
|
CA383474202 rs1377936363 |
1088 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383474207 rs1435312293 |
1088 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1555087730 CA383474200 |
1089 | A>T | No |
ClinGen Ensembl |
|
|
rs372409061 CA6368790 |
1089 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6368789 rs766582248 |
1090 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1373795982 CA383474166 |
1092 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs773503367 CA6368787 |
1092 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368784 rs775326679 |
1093 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330015129 CA383474156 |
1093 | G>R | No |
ClinGen TOPMed |
|
|
CA383474151 rs775326679 |
1093 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186057428 CA383474150 |
1094 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1489431908 CA383474146 |
1094 | I>N | No |
ClinGen gnomAD |
|
|
CA383474140 rs1414506189 |
1095 | L>V | No |
ClinGen TOPMed |
|
|
rs369696850 CA6368783 |
1096 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA383474131 rs1294314200 |
1097 | L>M | No |
ClinGen TOPMed |
|
|
rs745816240 CA6368782 |
1099 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6368780 rs756826277 |
1100 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1103 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320580602 CA383474080 |
1104 | A>V | No |
ClinGen gnomAD |
|
|
rs755766026 CA6368777 |
1107 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1107 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383474061 rs755766026 |
1107 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA231252464 rs768053252 |
1108 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6368775 rs768053252 |
1108 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs752118754 CA6368773 |
1109 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA383474049 rs1253951034 |
1110 | R>K | No |
ClinGen TOPMed |
|
|
rs763492394 CA6368771 |
1112 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1162927815 CA383474034 |
1112 | P>L | No |
ClinGen gnomAD |
|
|
CA383474035 rs1162927815 |
1112 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1113 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6368770 rs773204076 |
1113 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424628684 CA383474027 |
1114 | P>A | No |
ClinGen gnomAD |
|
|
CA231252424 rs951105893 |
1114 | P>L | No |
ClinGen Ensembl |
|
|
CA6368768 rs201459911 |
1115 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA231252394 rs903398972 |
1116 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6368767 rs564711822 |
1116 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383474017 rs564711822 |
1116 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6368765 rs546431558 |
1117 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761970963 CA6368766 |
1117 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761970963 CA383474014 |
1117 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1118 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769568183 | 1118 | A>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770826046 CA6368763 |
1118 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1277186397 CA383473996 |
1118 | A>V | No |
ClinGen gnomAD |
|
|
rs777219702 CA6368760 |
1119 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA383473949 rs1301800106 |
1121 | W>* | No |
ClinGen gnomAD |
|
|
rs1301800106 CA383473946 |
1121 | W>C | No |
ClinGen gnomAD |
|
|
rs1392257124 CA383473914 |
1123 | D>E | No |
ClinGen gnomAD |
|
|
CA6368759 rs755636781 |
1123 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383473888 rs1591711428 |
1125 | P>L | No |
ClinGen Ensembl |
|
|
rs747817264 CA6368758 |
1125 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383473874 rs1474589352 |
1126 | M>I | No |
ClinGen gnomAD |
|
|
CA383473877 rs1167568155 |
1126 | M>K | No |
ClinGen gnomAD |
|
|
CA6368756 rs752018665 |
1126 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs752018665 CA6368755 |
1126 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1211598893 CA383473844 |
1128 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA231252336 rs968825635 |
1130 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 1132 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383473774 rs1200084172 |
1134 | Q>K | No |
ClinGen gnomAD |
|
|
CA383473745 rs1454182240 |
1136 | R>* | No |
ClinGen gnomAD |
|
|
rs758894455 CA6368753 |
1136 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs564028707 CA6368752 |
1138 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6368751 rs765242476 |
1139 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA231252311 rs1010317378 |
1139 | S>R | No |
ClinGen Ensembl |
|
|
rs761812455 CA6368750 |
1140 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460110476 CA383473677 |
1141 | G>C | No |
ClinGen gnomAD |
|
|
rs754087981 CA6368749 |
1141 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs374679452 CA6368747 |
1142 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1417440920 CA383473674 |
1142 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6368746 rs768912911 |
1143 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs941373502 CA231252252 |
1143 | G>V | No |
ClinGen TOPMed |
|
|
CA6368745 rs774175692 |
1145 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA383473629 rs1174873309 |
1149 | Y>F | No |
ClinGen TOPMed |
|
|
rs773145029 CA6368742 |
1149 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1404649700 CA383473626 |
1150 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383473617 rs1393750452 |
1151 | E>G | No |
ClinGen gnomAD |
|
|
rs768462205 CA6368738 |
1151 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA383473616 rs1393750452 |
1151 | E>V | No |
ClinGen gnomAD |
|
|
CA6368737 rs780340792 |
1152 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs780340792 CA6368736 |
1152 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs758727259 CA6368735 |
1153 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368732 rs757348187 CA6368733 |
1154 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA383473604 rs1179107864 |
1154 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6368731 rs753970662 |
1155 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240454427 CA383473597 |
1155 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760958123 CA6368729 |
1156 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6368730 rs764131054 |
1156 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762354679 CA6368728 |
1157 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368727 rs766100674 |
1157 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769724847 CA6368724 |
1160 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773056493 CA6368725 |
1160 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs1397376954 CA383473565 |
1161 | P>S | No |
ClinGen TOPMed |
|
|
rs376689431 CA6368723 |
1162 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1277689504 CA383473556 |
1162 | S>R | No |
ClinGen gnomAD |
|
|
rs776345696 CA383473551 |
1163 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6368722 rs776345696 |
1163 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383473542 rs1591711284 |
1164 | F>L | No |
ClinGen Ensembl |
|
|
CA383473536 rs1420816001 |
1165 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA231252066 rs746669087 |
1168 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368720 rs746669087 |
1168 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368718 rs772351117 |
1169 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA383473513 rs1441676096 |
1170 | W>R | No |
ClinGen TOPMed |
|
|
CA231252050 rs746193241 |
1171 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368717 rs746193241 |
1171 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231252032 rs960274866 |
1172 | E>Q | No |
ClinGen gnomAD |
|
|
rs540773093 CA6368715 |
1174 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383473476 rs1282071216 |
1175 | P>L | No |
ClinGen gnomAD |
|
|
CA6368711 rs1318554507 |
1176 | R>Q | No |
ClinGen TOPMed |
|
|
CA6368713 rs754341528 |
1176 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377392273 CA6368710 |
1177 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232865212 CA383473468 |
1177 | P>S | No |
ClinGen gnomAD |
|
|
CA383473463 rs1345045974 |
1178 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6368708 rs200424692 |
1178 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1316860653 CA383473461 |
1179 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA383473456 rs1214953829 |
1179 | P>L | No |
ClinGen TOPMed |
|
|
CA383473460 rs1316860653 |
1179 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs767740632 CA6368707 |
1180 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6368706 rs375969844 |
1180 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs112808434 CA231251897 |
1181 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383473447 rs1473994291 |
1181 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6368705 rs112808434 |
1181 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383473445 rs765118637 |
1182 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs199538394 CA6368703 |
1182 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199538394 CA6368702 RCV000947402 |
1182 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6368704 rs765118637 |
1182 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA383473440 rs1240202117 |
1183 | Q>P | No |
ClinGen gnomAD |
|
|
rs760188319 CA6368700 |
1184 | A>T | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 1185 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771803823 CA6368697 |
1186 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6368696 rs745481927 |
1186 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA383473418 rs1332898065 |
1187 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA383473419 rs1332898065 |
1187 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs749814162 CA6368693 |
1188 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778186584 CA6368692 |
1189 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs748211032 CA6368690 |
1192 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA383473353 rs1324590812 |
1197 | Q>* | No |
ClinGen gnomAD |
|
|
CA383473341 rs1565422500 |
1198 | P>L | No |
ClinGen Ensembl |
|
|
rs1459419981 CA383473336 |
1199 | S>F | No |
ClinGen gnomAD |
|
|
rs963709613 CA231251806 |
1200 | R>G | No |
ClinGen gnomAD |
|
|
rs755292812 CA6368688 |
1203 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6368687 rs751716378 |
1204 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs765137222 CA6368686 |
1204 | L>Q | No |
ClinGen ExAC |
|
|
rs753853487 CA6368684 |
1205 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs753853487 CA383473286 |
1205 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1467204761 CA383473262 |
1207 | S>G | No |
ClinGen gnomAD |
|
|
rs775107940 CA383473253 |
1207 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368682 rs760504221 |
1207 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA383473238 rs1271264466 |
1208 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6368680 rs766935698 |
1208 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773939249 CA6368678 |
1209 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383473230 rs1234828777 |
1209 | L>H | No |
ClinGen TOPMed |
|
|
rs1234828777 CA383473227 |
1209 | L>R | No |
ClinGen TOPMed |
|
|
CA383473217 rs1176931550 |
1210 | S>T | No |
ClinGen Ensembl |
|
|
rs1303331332 CA383473192 |
1212 | R>C | No |
ClinGen gnomAD |
|
|
CA383473189 rs749614349 |
1212 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368677 rs749614349 |
1212 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368676 rs749614349 |
1212 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748596293 CA6368673 |
1214 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs748596293 CA383473166 |
1214 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA383473174 rs1298295202 |
1214 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6368672 rs781389593 |
1216 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs373498738 CA231251706 |
1218 | L>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs757136967 CA6368668 |
1219 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6368670 rs201329176 |
1219 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201329176 CA6368669 |
1219 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6368666 rs375449983 |
1221 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375449983 CA383473089 |
1221 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6368665 rs756144830 |
1222 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA383473070 rs1231402929 |
1223 | R>L | No |
ClinGen gnomAD |
|
|
rs752565096 CA6368664 |
1223 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA6368663 rs767068283 |
1225 | R>C | Variant assessed as Somatic; 0.0001067 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6368661 rs751248589 |
1226 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758904382 CA383473040 |
1226 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6368662 rs758904382 |
1226 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA383473029 rs1390343439 |
1227 | G>S | No |
ClinGen gnomAD |
|
|
CA231251662 rs568490682 |
1227 | G>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs546771674 CA6368658 |
1228 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1230 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421417579 CA383472963 |
1232 | A>G | No |
ClinGen gnomAD |
|
|
CA6368657 rs770038853 |
1232 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383472945 rs1364345285 |
1233 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6368655 rs776931813 |
1234 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762392907 CA6368656 |
1234 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1159839709 CA383472942 |
1234 | M>V | No |
ClinGen gnomAD |
|
|
CA383472922 rs1183817278 |
1235 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383472905 rs115902430 |
1236 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1257233478 CA383472886 |
1238 | T>A | No |
ClinGen gnomAD |
|
|
rs1257233478 CA383472887 |
1238 | T>P | No |
ClinGen gnomAD |
|
|
rs747036872 CA383472869 |
1239 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs747036872 CA6368653 |
1239 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs772461441 CA6368651 |
1240 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA383472844 rs1237631294 |
1241 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1344850675 CA383472837 |
1242 | P>A | No |
ClinGen TOPMed |
|
|
CA6368647 rs376944502 |
1242 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6368648 rs376944502 |
1242 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6368646 rs376944502 |
1242 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383472826 rs1233490902 |
1243 | A>T | No |
ClinGen gnomAD |
|
|
CA383472804 rs1434475085 |
1244 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA383472781 rs1354479715 |
1246 | S>N | No |
ClinGen gnomAD |
|
|
rs754543423 CA6368645 |
1246 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368644 rs751122021 |
1248 | S>P | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 1249 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765847381 CA6368643 |
1249 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288204109 CA383472718 |
1251 | S>C | No |
ClinGen gnomAD |
|
|
CA6368641 rs750016443 |
1252 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231251535 rs371578487 |
1253 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371578487 CA6368639 |
1253 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6368637 rs761231557 |
1254 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761231557 CA6368636 |
1254 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383472682 rs1565421954 |
1255 | T>A | No |
ClinGen Ensembl |
|
|
rs775777649 CA6368635 |
1255 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs772266406 CA6368634 |
1258 | P>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1258 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1259 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1266673098 CA383472637 |
1259 | S>P | No |
ClinGen gnomAD |
|
|
CA6368630 rs747853490 |
1261 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383472573 rs1368225372 |
1263 | R>C | No |
ClinGen TOPMed |
|
| TCGA novel | 1263 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1232714871 CA383472567 |
1263 | R>L | No |
ClinGen TOPMed |
|
|
rs781022196 CA6368629 |
1265 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1267 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383472523 rs1380439609 |
1268 | S>N | No |
ClinGen gnomAD |
|
|
rs1380439609 CA383472522 |
1268 | S>T | No |
ClinGen gnomAD |
|
|
rs563810272 CA6368625 |
1270 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563810272 CA6368626 |
1270 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746947924 CA6368627 |
1270 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368624 rs542535431 |
1271 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383472502 rs1046946851 |
1272 | A>S | No |
ClinGen gnomAD |
|
|
rs1046946851 CA231251429 |
1272 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383472496 rs1373963915 |
1273 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1373963915 CA383472495 |
1273 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs756910350 CA6368622 |
1273 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346837415 CA383472488 |
1274 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1192979733 CA383472487 |
1274 | G>D | No |
ClinGen gnomAD |
|
|
rs529654411 CA6368621 |
1276 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383472472 rs529654411 |
1276 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1015814428 CA383472471 |
1277 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs200373794 CA231251398 |
1277 | T>I | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA231251414 rs1015814428 |
1277 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs200373794 CA6368619 |
1277 | T>S | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs148045307 RCV000947401 CA6368617 |
1279 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA383472453 rs1439457646 |
1280 | T>I | No |
ClinGen TOPMed |
|
|
CA6368616 rs776084206 |
1281 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383472452 rs776084206 |
1281 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383472451 rs776084206 |
1281 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759648681 CA6368614 |
1282 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA383472435 rs1350464264 |
1283 | P>L | No |
ClinGen TOPMed |
|
|
CA383472438 rs1339723320 |
1283 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs771110477 CA6368612 |
1285 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1370328978 CA383472407 |
1288 | G>D | No |
ClinGen gnomAD |
|
|
rs1440148786 CA383472411 |
1288 | G>S | No |
ClinGen gnomAD |
|
|
CA6368609 rs768379934 |
1289 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311569703 CA383472403 |
1289 | P>S | No |
ClinGen gnomAD |
|
|
CA6368607 rs576502138 |
1290 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1041549124 CA231251308 |
1290 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA383472393 rs1460800515 |
1291 | P>L | No |
ClinGen gnomAD |
|
|
rs910930819 CA231251299 |
1294 | P>R | No |
ClinGen gnomAD |
|
|
rs757921495 CA383472367 |
1296 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6368606 rs757921495 |
1296 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs745418690 CA6368605 |
1298 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA6368603 rs368872341 |
1299 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778455234 CA6368604 |
1299 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1249393082 CA383472323 |
1302 | G>E | No |
ClinGen gnomAD |
|
|
CA6368601 rs764381966 |
1304 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1280861402 CA383472308 |
1304 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1565421405 CA383472302 |
1305 | P>L | No |
ClinGen Ensembl |
|
|
CA6368599 rs753288317 |
1307 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs968954894 CA231251223 |
1307 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs768088471 CA6368598 |
1308 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6368597 rs760102783 |
1310 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368595 rs763145037 |
1311 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6368594 rs763145037 |
1311 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1312 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1313924991 CA383472261 |
1313 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1313924991 CA383472262 |
1313 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6368593 rs773415265 |
1314 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383472255 rs1434594268 |
1314 | L>M | No |
ClinGen gnomAD |
|
|
rs768468003 CA6368592 |
1315 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383472249 rs768468003 |
1315 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383472244 rs1362767009 |
1316 | R>G | No |
ClinGen gnomAD |
|
|
rs201484490 CA6368590 |
1316 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367993254 CA6368589 |
1317 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383472240 rs1211898431 |
1317 | P>S | No |
ClinGen gnomAD |
|
|
CA6368587 rs770418036 |
1318 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368586 rs770418036 |
1318 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368585 rs748898735 |
1319 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs748898735 CA383472225 |
1319 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA383472214 rs1454081347 |
1321 | P>L | No |
ClinGen gnomAD |
|
|
rs867498001 CA231251108 |
1321 | P>S | No |
ClinGen Ensembl |
|
|
CA6368582 rs200416290 |
1322 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200416290 CA6368583 |
1322 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1279081770 CA383472204 |
1323 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA383472205 rs1279081770 |
1323 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383472203 rs1474667679 |
1324 | L>I | No |
ClinGen TOPMed |
|
|
CA383472191 rs1320056598 |
1325 | P>L | No |
ClinGen gnomAD |
|
|
CA383472181 rs1294251482 |
1327 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA383472179 rs1294251482 |
1327 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383472175 rs1459987230 |
1328 | G>E | No |
ClinGen TOPMed |
|
|
CA383471746 rs1163754658 |
1330 | L>R | No |
ClinGen gnomAD |
|
|
CA6368527 rs12800905 |
1331 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6368526 rs749297626 |
1332 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6368525 rs373112099 |
1333 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6368523 rs747819474 |
1335 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6368522 rs776380242 |
1335 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA383471718 rs747819474 |
1335 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA383471713 rs577336826 |
1336 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577336826 CA6368521 |
1336 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6368520 rs747446654 |
1336 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA231250117 rs1002551890 |
1337 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6368518 rs200886253 |
1338 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383471705 rs200886253 |
1338 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746361407 CA6368517 |
1338 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1324691424 CA383471690 |
1340 | S>I | No |
ClinGen gnomAD |
|
|
CA231250077 rs754091899 |
1340 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383471683 rs1355950866 |
1341 | P>R | No |
ClinGen gnomAD |
|
|
rs1013609390 CA231250072 |
1342 | P>S | No |
ClinGen Ensembl |
|
|
CA383471660 rs1175438706 |
1345 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383471661 rs1175438706 |
1345 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1229564982 CA383471657 |
1345 | A>V | No |
ClinGen TOPMed |
|
|
rs912280462 CA383471655 |
1346 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA231250060 rs888016995 |
1346 | L>H | No |
ClinGen Ensembl |
|
|
CA383471656 rs912280462 |
1346 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA231250064 rs912280462 |
1346 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1253675846 CA383471651 |
1347 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA383471645 rs1275886648 |
1348 | K>E | No |
ClinGen TOPMed |
|
|
CA383471634 rs1591710215 |
1349 | L>R | No |
ClinGen Ensembl |
|
|
rs758390652 CA6368512 |
1350 | L>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487603539 CA383471626 |
1350 | L>Y | No |
ClinGen gnomAD |
No associated diseases with Q9UPX0
21 regional properties for Q9UPX0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Immunoglobulin subtype 2 | 36 - 120 | IPR003598-1 |
| domain | Immunoglobulin subtype 2 | 152 - 215 | IPR003598-2 |
| domain | Immunoglobulin subtype 2 | 241 - 310 | IPR003598-3 |
| domain | Immunoglobulin subtype 2 | 337 - 404 | IPR003598-4 |
| domain | Immunoglobulin subtype 2 | 433 - 495 | IPR003598-5 |
| domain | Immunoglobulin subtype | 30 - 134 | IPR003599-1 |
| domain | Immunoglobulin subtype | 146 - 226 | IPR003599-2 |
| domain | Immunoglobulin subtype | 235 - 322 | IPR003599-3 |
| domain | Immunoglobulin subtype | 331 - 417 | IPR003599-4 |
| domain | Immunoglobulin subtype | 426 - 506 | IPR003599-5 |
| domain | Fibronectin type III | 232 - 302 | IPR003961-1 |
| domain | Fibronectin type III | 510 - 604 | IPR003961-2 |
| domain | Fibronectin type III | 614 - 708 | IPR003961-3 |
| domain | Immunoglobulin-like domain | 38 - 115 | IPR007110-1 |
| domain | Immunoglobulin-like domain | 139 - 226 | IPR007110-2 |
| domain | Immunoglobulin-like domain | 228 - 320 | IPR007110-3 |
| domain | Immunoglobulin-like domain | 324 - 415 | IPR007110-4 |
| domain | Immunoglobulin-like domain | 420 - 504 | IPR007110-5 |
| domain | Immunoglobulin V-set domain | 40 - 115 | IPR013106-1 |
| domain | Immunoglobulin V-set domain | 156 - 210 | IPR013106-2 |
| domain | Immunoglobulin V-set domain | 245 - 305 | IPR013106-3 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| GABA-ergic synapse | A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory. |
| 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. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
| postsynaptic membrane | A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. |
| postsynaptic specialization of symmetric synapse | A network of proteins within and adjacent to the postsynaptic membrane of a symmetric synapse, consisting of anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components that spatially and functionally organize the neurotransmitter receptors at the synapse. This structure is not as thick or electron dense as the postsynaptic densities found in asymmetric synapses. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O62664 | PTGS1 | Prostaglandin G/H synthase 1 | Bos taurus (Bovine) | PR |
| P23219 | PTGS1 | Prostaglandin G/H synthase 1 | Homo sapiens (Human) | PR |
| P35354 | PTGS2 | Prostaglandin G/H synthase 2 | Homo sapiens (Human) | PR |
| Q05769 | Ptgs2 | Prostaglandin G/H synthase 2 | Mus musculus (Mouse) | PR |
| P22437 | Ptgs1 | Prostaglandin G/H synthase 1 | Mus musculus (Mouse) | PR |
| P13595 | Ncam1 | Neural cell adhesion molecule 1 | Mus musculus (Mouse) | PR |
| Q05BQ1 | Igsf9 | Protein turtle homolog A | Mus musculus (Mouse) | PR |
| P13596 | Ncam1 | Neural cell adhesion molecule 1 | Rattus norvegicus (Rat) | PR |
| P0C5H6 | Igsf9 | Protein turtle homolog A | Rattus norvegicus (Rat) | PR |
| Q9C9U3 | DOX2 | Alpha-dioxygenase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIWYVATFIA | SVIGTRGLAA | EGAHGLREEP | EFVTARAGES | VVLRCDVIHP | VTGQPPPYVV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EWFKFGVPIP | IFIKFGYYPP | HVDPEYAGRA | SLHDKASLRL | EQVRSEDQGW | YECKVLMLDQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QYDTFHNGSW | VHLTINAPPT | FTETPPQYIE | AKEGGSITMT | CTAFGNPKPI | VTWLKEGTLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GASGKYQVSD | GSLTVTSVSR | EDRGAYTCRA | YSIQGEAVHT | THLLVQGPPF | IVSPPENITV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NISQDALLTC | RAEAYPGNLT | YTWYWQDENV | YFQNDLKLRV | RILIDGTLII | FRVKPEDSGK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YTCVPSNSLG | RSPSASAYLT | VQYPARVLNM | PPVIYVPVGI | HGYIRCPVDA | EPPATVVKWN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KDGRPLQVEK | NLGWTLMEDG | SIRIEEATEE | ALGTYTCVPY | NTLGTMGQSA | PARLVLKDPP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YFTVLPGWEY | RQEAGRELLI | PCAAAGDPFP | VITWRKVGKP | SRSKHSALPS | GSLQFRALSK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EDHGEWECVA | TNVVTSITAS | THLTVIGTSP | HAPGSVRVQV | SMTTANVSWE | PGYDGGYEQT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FSVWMKRAQF | GPHDWLSLPV | PPGPSWLLVD | TLEPETAYQF | SVLAQNKLGT | SAFSEVVTVN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TLAFPITTPE | PLVLVTPPRC | LIANRTQQGV | LLSWLPPANH | SFPIDRYIME | FRVAERWELL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DDGIPGTEGE | FFAKDLSQDT | WYEFRVLAVM | QDLISEPSNI | AGVSSTDIFP | QPDLTEDGLA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RPVLAGIVAT | ICFLAAAILF | STLAACFVNK | QRKRKLKRKK | DPPLSITHCR | KSLESPLSSG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KVSPESIRTL | RAPSESSDDQ | GQPAAKRMLS | PTREKELSLY | KKTKRAISSK | KYSVAKAEAE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| AEATTPIELI | SRGPDGRFVM | DPAEMEPSLK | SRRIEGFPFA | EETDMYPEFR | QSDEENEDPL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| VPTSVAALKS | QLTPLSSSQE | SYLPPPAYSP | RFQPRGLEGP | GGLEGRLQAT | GQARPPAPRP |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| FHHGQYYGYL | SSSSPGEVEP | PPFYVPEVGS | PLSSVMSSPP | LPTEGPFGHP | TIPEENGENA |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| SNSTLPLTQT | PTGGRSPEPW | GRPEFPFGGL | ETPAMMFPHQ | LPPCDVPESL | QPKAGLPRGL |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| PPTSLQVPAA | YPGILSLEAP | KGWAGKSPGR | GPVPAPPAAK | WQDRPMQPLV | SQGQLRHTSQ |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| GMGIPVLPYP | EPAEPGAHGG | PSTFGLDTRW | YEPQPRPRPS | PRQARRAEPS | LHQVVLQPSR |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| LSPLTQSPLS | SRTGSPELAA | RARPRPGLLQ | QAEMSEITLQ | PPAAVSFSRK | STPSTGSPSQ |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| SSRSGSPSYR | PAMGFTTLAT | GYPSPPPGPA | PAGPGDSLDV | FGQTPSPRRT | GEELLRPETP |
| 1330 | 1340 | ||||
| PPTLPTSGKL | QRDRPAPATS | PPERALSKL |