Q9Y5W7
PR
Gene name |
SNX14 |
Protein name |
Sorting nexin-14 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57231 |
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
4 structures for Q9Y5W7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4BGJ | X-ray | 255 A | A | 558-702 | PDB |
| 4PQO | X-ray | 255 A | A | 561-686 | PDB |
| 4PQP | X-ray | 300 A | A/B/C/D | 561-686 | PDB |
| AF-Q9Y5W7-F1 | Predicted | AlphaFoldDB |
635 variants for Q9Y5W7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1803676386 RCV001333017 |
40 | A>V | Autosomal recessive spinocerebellar ataxia 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3912557 rs777542453 RCV001333018 |
44 | L>P | Autosomal recessive spinocerebellar ataxia 20 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA364903032 rs1562374476 RCV000785947 |
101 | C>* | Autosomal recessive spinocerebellar ataxia 20 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs760752847 RCV000625883 CA3912480 |
111 | R>* | Variant assessed as Somatic; 0.0 impact. Autosomal recessive spinocerebellar ataxia 20 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA10575698 rs876657387 RCV000170507 |
143 | L>* | Autosomal recessive spinocerebellar ataxia 20 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_083399 | 153 | Y>del | SCAR20 [UniProt] | Yes | UniProt |
|
RCV000170504 rs869320748 |
216 | E>missing | Autosomal recessive spinocerebellar ataxia 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001328723 rs765192341 |
305 | P>T | Autosomal recessive spinocerebellar ataxia 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000413946 CA3912223 rs201128942 RCV001808789 |
370 | E>* | Autosomal recessive spinocerebellar ataxia 20 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201128942 RCV000498500 CA364896459 |
370 | E>K | Autosomal recessive spinocerebellar ataxia 20 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002225490 CA199666 rs786205229 RCV000170506 |
378 | R>* | Variant assessed as Somatic; 0.0 impact. Autosomal recessive spinocerebellar ataxia 20 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3912187 RCV000963190 RCV002548287 rs142875261 |
397 | Y>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001198150 rs1784370895 |
434 | Q>* | Autosomal recessive spinocerebellar ataxia 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000416984 rs1057519561 |
570 | P>missing | Autosomal recessive spinocerebellar ataxia 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000984947 rs1311909367 |
575 | F>missing | Autosomal recessive spinocerebellar ataxia 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs556044910 RCV001751655 CA3911870 RCV001335507 |
799 | R>W | Autosomal recessive spinocerebellar ataxia 20 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs141213887 RCV001597267 RCV001328721 CA3911867 |
804 | V>I | Autosomal recessive spinocerebellar ataxia 20 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA142031264 rs936843937 RCV000662090 |
816 | R>Q | Variant assessed as Somatic; impact. Autosomal recessive spinocerebellar ataxia 20 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000170502 rs876657385 CA10575695 |
866 | Q>* | Autosomal recessive spinocerebellar ataxia 20 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs774694340 RCV000170508 RCV001093187 |
889 | K>* | Autosomal recessive spinocerebellar ataxia 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3911798 rs758491411 RCV001328722 |
892 | G>S | Autosomal recessive spinocerebellar ataxia 20 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3912584 rs780764686 |
2 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3912581 rs779539329 |
3 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA142042765 rs923157402 |
3 | P>S | No |
ClinGen gnomAD |
|
|
rs1349714802 CA364905636 |
4 | W>* | No |
ClinGen gnomAD |
|
|
CA364905637 rs1393496116 |
4 | W>L | No |
ClinGen gnomAD |
|
|
rs745683660 CA3912579 |
4 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA3912575 rs147269472 |
9 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3912576 rs147269472 |
9 | G>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1184922345 CA364905598 |
10 | Q>P | No |
ClinGen gnomAD |
|
|
rs767695765 CA3912574 |
11 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916166950 CA142042731 |
15 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs567468167 CA3912573 |
15 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252819020 CA364905560 |
16 | L>Q | No |
ClinGen gnomAD |
|
|
CA3912570 rs763222775 |
17 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs773712922 CA3912569 |
19 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 19 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214437055 CA364905550 |
19 | D>H | No |
ClinGen gnomAD |
|
|
rs1299129284 CA364905539 |
20 | V>A | No |
ClinGen gnomAD |
|
|
rs765635495 CA3912568 |
22 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs768252097 CA3912566 |
23 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs768252097 CA3912565 |
23 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1352473431 CA364905510 |
25 | C>Y | No |
ClinGen gnomAD |
|
|
CA142042712 rs138148199 |
26 | R>G | No |
ClinGen ESP gnomAD |
|
|
CA364905505 rs138148199 |
26 | R>S | No |
ClinGen ESP gnomAD |
|
|
rs1390912948 CA364905496 |
27 | Q>R | No |
ClinGen gnomAD |
|
|
rs746476695 CA364905486 |
28 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs977582251 CA142042710 |
28 | Y>F | No |
ClinGen TOPMed |
|
|
CA142042706 rs1021686562 |
29 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs368530600 CA364905466 |
32 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368530600 CA364905467 |
32 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368530600 CA3912563 |
32 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1273920478 CA364905449 |
34 | L>P | No |
ClinGen TOPMed |
|
|
CA3912561 rs745457670 |
37 | C>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 37 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364905433 rs745457670 |
37 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3912559 rs757034242 |
40 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA364905415 rs757034242 |
40 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA364905410 rs1220534073 |
41 | A>T | No |
ClinGen gnomAD |
|
|
CA3912558 rs749317209 |
41 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA364905401 rs1297367764 |
42 | S>C | No |
ClinGen gnomAD |
|
|
CA364905404 rs1346974884 |
42 | S>P | No |
ClinGen gnomAD |
|
|
CA364905392 rs1372318474 |
44 | L>F | No |
ClinGen gnomAD |
|
|
CA364905377 rs1432949641 |
46 | N>K | No |
ClinGen gnomAD |
|
|
rs767083563 CA3912525 |
48 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759018508 CA3912524 |
49 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA3912523 rs774042896 |
50 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770515627 CA3912522 |
51 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA142034461 rs377647551 |
52 | L>F | No |
ClinGen ESP TOPMed |
|
|
rs141583952 CA3912521 |
53 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 57 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364903743 rs1562381136 |
59 | V>I | No |
ClinGen Ensembl |
|
|
CA3912520 rs111492598 |
61 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA142034449 rs111492598 |
61 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs374701268 CA3912518 |
63 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA142034426 rs374701268 |
63 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745965694 CA3912515 |
65 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3912514 rs779009488 |
65 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA364903645 rs1417956297 |
66 | Y>S | No |
ClinGen gnomAD |
|
|
rs1273315491 CA364903611 |
68 | S>L | No |
ClinGen gnomAD |
|
|
CA364903620 rs1208720969 |
68 | S>T | No |
ClinGen TOPMed |
|
|
CA364903578 rs1325909546 |
71 | P>R | No |
ClinGen gnomAD |
|
|
CA3912512 rs372813808 |
72 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs924749279 CA142034407 |
72 | D>E | No |
ClinGen Ensembl |
|
|
rs368201363 CA3912511 |
74 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1176907275 CA364903518 |
76 | P>L | No |
ClinGen TOPMed |
|
|
rs756498278 CA3912510 |
76 | P>S | No |
ClinGen ExAC |
|
|
rs1308179498 CA364903516 |
77 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 80 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1373036249 CA364903431 |
82 | I>M | No |
ClinGen gnomAD |
|
|
rs1562380575 CA364903441 |
82 | I>V | No |
ClinGen Ensembl |
|
|
rs1171657935 CA364903400 |
84 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3912489 rs113111730 RCV000885446 |
88 | Q>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1186915592 CA364903190 |
88 | Q>L | No |
ClinGen gnomAD |
|
|
rs752089290 CA3912488 |
89 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA3912487 rs765869266 |
90 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3912486 rs757891999 |
92 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA142033613 rs1042362685 |
93 | E>A | No |
ClinGen Ensembl |
|
|
rs764962607 CA3912484 |
95 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA3912483 rs761515829 |
96 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs776570536 CA3912482 |
97 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1299136981 CA364903046 |
100 | S>G | No |
ClinGen gnomAD |
|
|
rs145124112 CA3912481 |
110 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775494514 CA3912479 |
111 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142940872 CA3912476 |
112 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3912477 rs142940872 |
112 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163701799 CA364902956 |
113 | R>K | No |
ClinGen gnomAD |
|
|
CA3912471 rs781555389 |
114 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3912470 rs755328000 |
115 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747506829 CA3912469 |
118 | L>F | No |
ClinGen ExAC |
|
|
rs780584969 CA3912468 |
121 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322377145 CA364902883 |
121 | Y>S | No |
ClinGen gnomAD |
|
|
rs1349029562 CA364902870 |
122 | Q>* | No |
ClinGen gnomAD |
|
|
rs758780751 CA364902861 CA364902859 |
122 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM379392 rs749978805 CA3912466 |
123 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs764771525 CA3912465 |
124 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1166768318 CA364902831 |
125 | L>I | No |
ClinGen gnomAD |
|
|
rs1229365134 CA364902787 |
128 | K>T | No |
ClinGen TOPMed |
|
|
rs753526985 CA3912463 |
130 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3912462 rs764047793 |
131 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3912460 rs752628199 |
133 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA364902700 rs1583030854 |
135 | A>T | No |
ClinGen Ensembl |
|
|
rs1231105455 CA364902659 |
138 | S>* | No |
ClinGen gnomAD |
|
|
CA3912444 rs753585987 |
140 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA364901904 rs1192127855 |
140 | V>I | No |
ClinGen gnomAD |
|
|
rs1232087366 CA364901830 |
144 | V>A | No |
ClinGen TOPMed |
|
|
rs1461904295 CA364901722 |
150 | Y>C | No |
ClinGen Ensembl |
|
|
rs1178441283 CA364901700 |
151 | P>L | No |
ClinGen TOPMed |
|
|
rs748819353 CA3912425 |
155 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326858311 CA364901265 |
155 | D>Y | No |
ClinGen gnomAD |
|
|
CA364901249 rs1331117298 |
157 | T>R | No |
ClinGen gnomAD |
|
|
CA364901242 rs1440417309 |
158 | D>V | No |
ClinGen TOPMed |
|
|
rs755818862 CA3912423 |
159 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs752239921 CA3912422 |
160 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs756442167 CA3912420 |
163 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3912419 rs751559499 |
165 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA364901176 rs1458277097 |
168 | I>K | No |
ClinGen gnomAD |
|
|
rs137961162 CA3912417 |
171 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199770185 CA3912416 |
171 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs137961162 CA364901159 |
171 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764033772 CA3912414 |
172 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480572818 CA364901154 |
172 | F>I | No |
ClinGen TOPMed |
|
|
rs775544282 CA3912412 |
174 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA142031726 rs920688800 |
177 | L>S | No |
ClinGen Ensembl |
|
|
rs756092433 CA142031721 |
179 | R>G | No |
ClinGen Ensembl |
|
| rs1209116914 | 180 | R>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs973519532 CA142031718 |
180 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 184 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3912393 rs767645399 |
185 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 186 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760292886 CA3912392 |
186 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs774885935 CA3912391 |
187 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364900681 rs148838600 |
189 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148838600 CA3912390 |
189 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3912389 rs763601441 |
191 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs773557814 CA364900653 |
191 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773557814 CA3912388 |
191 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145467343 CA3912386 |
193 | K>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1369353083 CA364900608 |
195 | L>F | No |
ClinGen gnomAD |
|
|
rs369189034 CA3912383 |
198 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369189034 CA3912382 |
198 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364900563 rs1375765244 |
199 | M>I | No |
ClinGen gnomAD |
|
|
CA364900572 rs1301869731 |
199 | M>V | No |
ClinGen gnomAD |
|
|
rs1270966946 CA364900524 |
202 | I>M | No |
ClinGen gnomAD |
|
|
CA3912381 rs779873668 |
202 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364900531 rs1341676058 |
202 | I>V | No |
ClinGen TOPMed |
|
|
CA3912380 rs758158622 |
205 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA364900488 rs1449651209 |
206 | V>F | No |
ClinGen TOPMed |
|
|
rs745873319 CA3912379 |
211 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 212 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 214 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364898958 rs1182614556 |
214 | N>S | No |
ClinGen gnomAD |
|
|
CA3912363 rs768134666 |
215 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3912360 rs771913014 |
219 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3912359 rs745663472 |
220 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA142028425 rs888549946 |
221 | A>T | No |
ClinGen TOPMed |
|
|
rs1329059796 CA364898792 |
223 | L>S | No |
ClinGen gnomAD |
|
|
CA3912358 rs778702638 |
224 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs142300625 CA3912357 |
226 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364898715 rs1207191017 |
227 | G>V | No |
ClinGen TOPMed |
|
|
CA3912355 rs781175632 |
231 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3912356 rs749198650 |
231 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs553047040 CA3912354 |
232 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553047040 CA3912353 |
232 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1189711307 CA364898602 |
235 | R>G | No |
ClinGen TOPMed |
|
|
CA3912352 rs780440765 |
237 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs758630575 CA3912351 |
237 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750787317 CA3912350 COSM3831145 |
238 | R>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3912349 rs372213413 |
239 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1471214519 CA364898489 |
242 | H>N | No |
ClinGen gnomAD |
|
|
TCGA novel rs1471214519 CA364898484 |
242 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA364898396 rs1366756819 |
244 | L>S | No |
ClinGen gnomAD |
|
|
CA364898363 rs1159407172 |
245 | R>S | No |
ClinGen TOPMed |
|
|
rs534391113 CA3912348 |
247 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 249 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754339932 CA3912347 |
249 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 252 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245413846 CA364898199 |
253 | P>L | No |
ClinGen gnomAD |
|
|
CA364898189 rs1562303771 |
254 | Y>S | No |
ClinGen Ensembl |
|
|
rs570117549 CA3912346 |
256 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA364898131 rs1485041085 |
257 | P>A | No |
ClinGen gnomAD |
|
|
rs760165150 CA3912345 |
258 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA364898062 rs1319641204 |
260 | A>G | No |
ClinGen TOPMed |
|
|
rs1285590823 CA364898068 |
260 | A>S | No |
ClinGen gnomAD |
|
|
CA3912344 rs774923288 |
261 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs565962666 CA3912343 |
262 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs565962666 CA142028411 |
262 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA142028410 rs549325509 |
263 | C>Y | No |
ClinGen Ensembl |
|
|
rs1283054772 CA364897976 |
264 | R>T | No |
ClinGen gnomAD |
|
|
CA3912327 rs756546175 |
265 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3912326 rs752234998 |
267 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766963036 CA364897401 |
270 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3912324 rs759158613 |
270 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766963036 CA3912325 |
270 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459829130 CA364897379 |
273 | I>S | No |
ClinGen TOPMed |
|
|
rs774021257 CA3912322 |
275 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA142028179 rs766151545 |
276 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3912321 rs766151545 |
276 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1436395778 CA364897362 |
277 | S>P | No |
ClinGen TOPMed |
|
|
CA3912320 rs368606746 |
279 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1026883343 CA142028175 |
282 | S>Y | No |
ClinGen Ensembl |
|
|
CA364897314 rs1582832639 |
284 | D>E | No |
ClinGen Ensembl |
|
|
rs541223488 CA364897293 |
288 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs541223488 CA3912317 |
288 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1446055030 CA364897261 |
290 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 290 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364897259 rs1414559119 |
291 | T>A | No |
ClinGen TOPMed |
|
|
rs765104516 CA3912294 |
294 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3912292 rs761885585 |
296 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA142028052 rs1012034783 |
297 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs776706731 CA3912291 |
297 | I>V | No |
ClinGen ExAC gnomAD |
|
| rs1409477442 | 298 | I>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364897216 rs1419170975 |
298 | I>V | No |
ClinGen gnomAD |
|
|
rs1348756737 CA364897207 |
299 | F>V | No |
ClinGen TOPMed |
|
|
CA364897201 rs1213096290 |
300 | I>L | No |
ClinGen TOPMed |
|
|
rs1340743748 CA364897190 |
301 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA364897194 rs1179795785 |
301 | D>N | No |
ClinGen gnomAD |
|
|
rs41271629 CA3912290 |
303 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3912289 rs745974167 |
304 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3912273 rs765192341 |
305 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs761689424 RCV000523064 CA3912272 |
307 | K>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1295277331 CA364897131 |
308 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA364897130 rs1295277331 |
308 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA364897128 rs1479568721 |
309 | T>A | No |
ClinGen TOPMed |
|
|
CA364897121 rs1364692892 |
310 | E>K | No |
ClinGen gnomAD |
|
|
COSM301142 CA3912270 rs764098295 |
311 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs764098295 CA364897111 |
311 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1055070938 CA142028026 |
312 | A>S | No |
ClinGen TOPMed |
|
|
CA142028025 rs767304338 |
313 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1047222098 CA142028023 |
313 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs774511158 CA3912268 |
314 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA364897052 rs1167640788 |
321 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 321 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364897035 rs1265195979 |
323 | A>E | No |
ClinGen gnomAD |
|
|
CA3912264 rs770199954 |
325 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs898616640 CA142028016 |
327 | N>S | No |
ClinGen Ensembl |
|
|
rs769231465 CA3912261 |
330 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781341508 CA3912262 |
330 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA364896958 rs1337679699 |
331 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 331 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364896878 rs1463320537 |
334 | K>R | No |
ClinGen TOPMed |
|
|
CA3912243 rs202003606 |
336 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 337 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399856620 CA364896814 |
338 | K>T | No |
ClinGen gnomAD |
|
|
rs768876130 CA3912241 |
339 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA364896782 rs1470299922 |
340 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA364896774 rs1438747848 |
341 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA364896719 rs145265337 |
345 | D>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs145265337 CA142027991 |
345 | D>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1253294347 CA364896696 |
348 | F>L | No |
ClinGen gnomAD |
|
|
rs778527399 CA3912236 |
349 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3912235 rs756992181 |
349 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 350 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194527174 CA364896680 |
351 | M>V | No |
ClinGen gnomAD |
|
|
rs748869973 CA364896658 |
353 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 354 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317379323 CA364896644 |
356 | Q>K | No |
ClinGen TOPMed |
|
|
rs367603151 CA3912233 |
357 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146849758 CA364896603 |
359 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146849758 RCV000893992 CA3912229 RCV002249573 |
359 | A>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs146849758 CA3912230 |
359 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3912227 COSM1446233 rs765837232 |
362 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3912225 rs776718364 |
364 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1316182876 CA364896511 |
366 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 366 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364896080 rs1489656121 |
371 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1195891528 CA364896083 |
371 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA364896052 rs1263803760 |
375 | R>G | No |
ClinGen TOPMed |
|
|
CA3912196 rs769360608 |
376 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs376342644 CA3912195 |
378 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781008386 CA3912194 |
379 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3912192 COSM743986 rs747011090 |
383 | N>D | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3912193 rs747011090 |
383 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA364895973 rs1402989966 |
386 | M>I | No |
ClinGen gnomAD |
|
|
CA3912191 rs779983862 |
388 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405848289 CA364895954 |
390 | H>Y | No |
ClinGen gnomAD |
|
|
rs1050897799 CA142027450 |
391 | E>G | No |
ClinGen Ensembl |
|
|
CA364895931 rs1168529345 |
393 | L>* | No |
ClinGen gnomAD |
|
|
CA3912189 rs373334568 |
394 | Q>L | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 394 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM315479 rs777861778 CA3912188 |
395 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs752934645 CA3912186 |
399 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199518389 CA364895873 |
401 | C>Y | No |
ClinGen gnomAD |
|
|
CA364895866 rs1582793072 |
402 | L>S | No |
ClinGen Ensembl |
|
|
CA364895859 rs1490681528 |
403 | D>G | No |
ClinGen gnomAD |
|
|
CA364895834 rs1165023190 |
406 | I>T | No |
ClinGen TOPMed |
|
|
rs759965858 CA3912184 |
407 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 407 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs534469103 CA3912183 |
409 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA364895767 rs1438228649 |
412 | D>G | No |
ClinGen gnomAD |
|
|
rs763473654 CA3912181 |
416 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562424776 CA142027441 |
417 | E>* | No |
ClinGen Ensembl |
|
|
rs267601147 CA142027439 |
420 | Q>* | No |
ClinGen Ensembl |
|
|
CA364895622 rs1322721399 |
422 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750938702 CA3912160 |
423 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs764714525 CA3912159 |
426 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA364895486 rs1232625885 |
427 | Y>C | No |
ClinGen TOPMed |
|
|
rs776056198 CA3912157 |
427 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs776352992 CA3912156 |
428 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 428 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 430 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364895434 rs1243496775 |
431 | V>G | No |
ClinGen gnomAD |
|
|
rs1183578608 CA364895432 |
432 | K>E | No |
ClinGen gnomAD |
|
|
rs1323166555 CA364895428 |
432 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1323166555 CA364895427 |
432 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA142027388 rs760271669 |
434 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA142027386 rs901855371 |
435 | T>A | No |
ClinGen gnomAD |
|
|
CA364895408 rs1562281925 |
435 | T>S | No |
ClinGen Ensembl |
|
|
rs1469349039 CA364895405 |
436 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 437 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317543681 CA364895372 |
440 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA364895368 rs1401464352 |
441 | E>K | No |
ClinGen gnomAD |
|
|
rs1288469294 CA364895354 |
443 | Y>H | No |
ClinGen gnomAD |
|
|
CA3912153 rs771871094 |
444 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA3912152 rs774329796 |
445 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1645012 CA3912151 rs774329796 |
445 | H>R | salivary_gland [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA142027381 rs1040279020 |
446 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 447 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA142027379 rs1037015079 |
449 | L>F | No |
ClinGen TOPMed |
|
|
CA142027377 rs144690243 |
452 | N>S | No |
ClinGen ESP gnomAD |
|
|
RCV001318370 CA364895285 rs1161324670 |
453 | V>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA364895289 rs1361849016 |
453 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 453 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201873184 CA3912148 |
455 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364895263 rs1166657288 |
457 | M>V | No |
ClinGen gnomAD |
|
|
rs544346545 CA3912146 |
461 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1344386162 CA364895225 |
461 | S>R | No |
ClinGen TOPMed |
|
|
rs780320408 CA3912145 |
463 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA364905025 rs1483279274 |
468 | L>F | No |
ClinGen Ensembl |
|
|
CA364905019 rs1197372491 |
468 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA142042452 rs778761394 |
472 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3912132 rs767271296 |
474 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1251086418 CA364904938 |
476 | T>I | No |
ClinGen gnomAD |
|
|
CA3912131 rs140199550 |
477 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1446214809 CA364904932 |
477 | R>H | No |
ClinGen TOPMed |
|
|
CA3912130 rs773950277 |
478 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA364904894 rs1367790451 |
481 | L>S | No |
ClinGen TOPMed |
|
|
CA364904880 rs1447269175 |
482 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA364904878 rs1281866056 |
483 | R>G | No |
ClinGen gnomAD |
|
|
CA3912110 rs776895778 |
492 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364904711 rs1441971454 |
492 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1264783445 CA364904293 |
495 | Q>E | No |
ClinGen Ensembl |
|
|
CA3912098 rs752283442 |
495 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3912097 rs780514880 |
496 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs751137526 CA3912095 |
500 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA364904222 rs1228694376 |
501 | F>S | No |
ClinGen gnomAD |
|
|
rs1358151617 CA364904213 |
502 | G>R | No |
ClinGen gnomAD |
|
|
rs766341984 CA3912094 |
505 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA364904154 rs1226573104 |
507 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3912092 rs750178922 |
509 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1363954116 CA364904049 |
515 | K>R | No |
ClinGen gnomAD |
|
|
CA3912089 rs761611312 |
519 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs765300723 CA3912090 |
519 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs529054753 CA142040308 |
520 | E>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1181020254 CA364903986 |
523 | M>V | No |
ClinGen TOPMed |
|
|
CA364903951 rs772015645 |
527 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364903955 rs1243492170 |
527 | Y>D | No |
ClinGen gnomAD |
|
| TCGA novel | 528 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759871273 CA3912086 |
529 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 530 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190979767 CA364903924 |
532 | G>S | No |
ClinGen gnomAD |
|
|
CA364903918 rs1221807622 |
533 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1221807622 CA364903917 |
533 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3912085 rs774545117 |
534 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA364903909 rs1270605435 |
534 | D>H | No |
ClinGen gnomAD |
|
|
CA3912082 rs771081258 |
536 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA364903788 rs1215311238 |
540 | G>S | No |
ClinGen gnomAD |
|
|
rs1378069018 CA364903752 |
543 | V>I | No |
ClinGen gnomAD |
|
|
rs1047030876 CA142039105 |
544 | M>T | No |
ClinGen Ensembl |
|
|
rs752431331 CA3912062 |
544 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3912061 rs773611996 |
546 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA142039096 rs930313030 |
549 | P>L | No |
ClinGen TOPMed |
|
|
CA364903654 rs1582697948 RCV000998657 |
551 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 552 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3912059 rs770020089 |
555 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3912058 rs748752746 |
556 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1554226470 RCV000454285 |
558 | T>missing | No |
ClinVar dbSNP |
|
|
rs1405366930 CA364903543 |
560 | R>* | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs551115576 CA3912056 |
560 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs920265324 CA142039085 |
562 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA364903499 rs1239754915 |
563 | A>V | No |
ClinGen gnomAD |
|
|
CA3912055 rs746552424 |
564 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs958925358 CA142039078 |
564 | A>V | No |
ClinGen TOPMed |
|
|
rs779665478 CA3912054 |
567 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA364903438 rs1237919583 |
568 | S>C | No |
ClinGen gnomAD |
|
|
rs756990758 CA3912050 |
571 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs778835593 CA142039045 |
571 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3912051 rs778835593 |
571 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA3912049 rs753613129 |
573 | D>N | No |
ClinGen ExAC gnomAD |
|
| rs1311909367 | 575 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311909367 RCV001008732 |
576 | E>* | No |
ClinVar dbSNP |
|
|
rs1315242063 CA364903333 |
576 | E>A | No |
ClinGen gnomAD |
|
|
rs1450820735 CA364903329 |
577 | D>Y | No |
ClinGen gnomAD |
|
|
CA364903315 rs1224075347 |
579 | S>A | No |
ClinGen TOPMed |
|
|
CA364903293 rs1303882650 |
582 | R>K | No |
ClinGen gnomAD |
|
|
CA3912046 rs568499328 |
584 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3912045 rs766424737 |
586 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA142039016 rs749719619 |
587 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA142039014 rs868755826 |
590 | P>S | No |
ClinGen Ensembl |
|
|
CA364903148 rs1484305964 |
598 | R>I | No |
ClinGen gnomAD |
|
|
rs1261106542 CA364903139 |
599 | N>D | No |
ClinGen gnomAD |
|
|
rs1039851330 CA142039004 |
601 | R>I | No |
ClinGen TOPMed |
|
|
rs942503022 CA142039002 |
602 | R>K | No |
ClinGen gnomAD |
|
|
CA3912041 rs765688923 |
603 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1244262026 CA364903075 |
604 | V>F | No |
ClinGen gnomAD |
|
|
CA364902834 rs1189877124 |
608 | P>L | No |
ClinGen gnomAD |
|
|
rs758457647 CA3912025 |
609 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs762048093 CA3912022 |
610 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762048093 CA3912023 |
610 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385861275 CA364902786 |
612 | S>P | No |
ClinGen gnomAD |
|
|
rs377241536 CA3912020 |
614 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377241536 CA364902757 |
614 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3912021 rs377241536 |
614 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364902748 rs1205068185 |
615 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1295075306 CA364902734 |
616 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs374844583 CA142037417 |
617 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3912019 rs761335873 |
617 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 622 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364902594 rs1166440084 |
629 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 630 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 630 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562238215 RCV000735127 CA913189786 |
633 | A>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA364902085 rs1438273717 |
633 | A>S | No |
ClinGen gnomAD |
|
|
rs367587585 CA142036462 |
633 | A>V | No |
ClinGen ESP gnomAD |
|
|
CA364902062 rs1179888885 |
635 | P>S | No |
ClinGen gnomAD |
|
|
rs1459483699 CA364902042 |
637 | A>T | No |
ClinGen gnomAD |
|
|
CA364901956 rs1444942532 |
645 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs769263385 CA3911996 |
648 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3911995 rs773778859 |
651 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 651 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel CA3911994 rs770440190 |
652 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA364901711 rs1352785810 |
659 | E>* | No |
ClinGen gnomAD |
|
|
CA364901705 rs1328748830 |
659 | E>G | No |
ClinGen gnomAD |
|
|
rs1352785810 CA364901715 |
659 | E>K | No |
ClinGen gnomAD |
|
|
rs772905475 CA3911992 |
660 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA364901620 rs1391380062 |
663 | Y>C | No |
ClinGen TOPMed |
|
|
CA3911991 rs769377902 |
665 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3911989 rs747703930 |
665 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs747939559 CA3911990 |
665 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1421943171 CA364901502 |
669 | Q>R | No |
ClinGen gnomAD |
|
|
CA3911974 rs765863759 |
671 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs866595944 CA142035480 |
671 | P>S | No |
ClinGen Ensembl |
|
|
CA3911973 rs368928892 |
673 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1473407975 CA364901473 |
674 | S>C | No |
ClinGen gnomAD |
|
|
rs1370640736 CA364901468 |
674 | S>R | No |
ClinGen gnomAD |
|
|
CA3911972 rs772641683 |
675 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs772641683 CA364901464 |
675 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA364901430 rs1263576447 |
680 | A>V | No |
ClinGen TOPMed |
|
|
rs761435789 CA3911970 |
681 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA3911968 rs768495285 |
683 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs898767758 CA142035437 |
685 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1210431536 CA364901368 |
689 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 691 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1358396255 CA364901357 |
691 | Q>R | No |
ClinGen gnomAD |
|
|
rs962414994 CA142035436 |
693 | L>F | No |
ClinGen Ensembl |
|
|
CA3911966 rs775515161 |
698 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760104267 CA142035432 |
699 | D>E | No |
ClinGen Ensembl |
|
|
CA3911964 rs749420274 |
699 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1279130335 CA364901301 |
700 | V>I | No |
ClinGen gnomAD |
|
|
CA364901294 rs1361509918 |
701 | N>D | No |
ClinGen TOPMed |
|
|
rs777954051 CA3911963 |
702 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 702 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3911952 rs776253312 |
705 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA3911951 rs760527415 |
713 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs775110435 CA3911949 |
714 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3911930 rs760199489 |
719 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3911927 rs759611618 |
722 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3911926 rs774413694 |
723 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA364900909 rs1157837748 |
723 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA364900910 rs1157837748 |
723 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774413694 CA364900912 |
723 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA364900899 rs1440026323 |
725 | I>V | No |
ClinGen gnomAD |
|
|
CA3911923 rs776532321 |
726 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs761988164 CA3911924 |
726 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3911925 rs183469743 |
726 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA142032449 rs940131182 |
730 | N>S | No |
ClinGen Ensembl |
|
|
rs1486780172 CA364900839 |
733 | E>G | No |
ClinGen gnomAD |
|
|
CA3911921 rs747169515 |
736 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216381653 CA364900812 |
737 | P>L | No |
ClinGen gnomAD |
|
|
CA364900806 rs1309847131 |
738 | K>R | No |
ClinGen gnomAD |
|
|
rs777533516 CA142032445 |
740 | S>I | No |
ClinGen gnomAD |
|
|
rs777533516 CA364900793 |
740 | S>N | No |
ClinGen gnomAD |
|
|
CA364900756 rs1377891082 |
746 | I>V | No |
ClinGen gnomAD |
|
|
CA3911920 rs143007926 |
747 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1416025302 CA364900735 |
749 | P>S | No |
ClinGen gnomAD |
|
|
CA3911919 rs772413261 |
751 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs779401269 CA3911917 |
754 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138417324 CA3911918 |
754 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1454259251 CA364900234 |
755 | K>T | No |
ClinGen TOPMed |
|
|
CA364899847 rs1454802336 |
759 | N>S | No |
ClinGen gnomAD |
|
|
CA364899831 rs1269521016 |
761 | L>V | No |
ClinGen gnomAD |
|
|
rs1218645278 CA364899790 |
764 | N>I | No |
ClinGen gnomAD |
|
|
CA3911888 rs747632357 |
765 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3911887 rs150445663 |
767 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377525323 CA142031395 |
768 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA142031392 rs945563738 |
768 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA364899747 rs945563738 |
768 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1020726038 CA142031389 |
769 | A>T | No |
ClinGen Ensembl |
|
|
CA364899738 rs1174156502 |
769 | A>V | No |
ClinGen TOPMed |
|
|
rs1376799877 CA364899711 |
772 | T>A | No |
ClinGen TOPMed |
|
|
rs1432312153 CA364899700 |
773 | E>* | No |
ClinGen TOPMed |
|
|
rs1396775083 CA364899695 |
773 | E>D | No |
ClinGen TOPMed |
|
|
rs751420138 CA3911885 |
774 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1170074219 CA364899676 |
775 | K>R | No |
ClinGen gnomAD |
|
|
CA364899634 rs1392720895 |
778 | Q>R | No |
ClinGen TOPMed |
|
|
CA364899623 rs1375031492 |
779 | N>S | No |
ClinGen gnomAD |
|
|
CA364899610 rs1242856421 |
780 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA364899578 rs1375106715 |
783 | E>Q | No |
ClinGen TOPMed |
|
|
rs750316646 CA3911882 |
784 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA364899540 rs1240120201 |
786 | T>S | No |
ClinGen TOPMed |
|
|
CA142031381 rs867889848 |
787 | V>I | No |
ClinGen TOPMed |
|
|
rs1433019704 CA364899524 |
788 | E>G | No |
ClinGen gnomAD |
|
|
rs373520645 CA142031377 |
791 | Y>C | No |
ClinGen ESP gnomAD |
|
|
rs1196127914 CA364899463 |
793 | Y>* | No |
ClinGen gnomAD |
|
| TCGA novel | 794 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364899445 rs1456831197 |
795 | M>I | No |
ClinGen gnomAD |
|
|
rs760675802 CA3911880 |
796 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3911869 rs201374322 |
799 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1380261921 CA364899375 |
800 | V>L | No |
ClinGen gnomAD |
|
|
rs747641642 CA3911868 |
801 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA364899342 rs1317535036 |
803 | Q>R | No |
ClinGen TOPMed |
|
|
rs1014831532 CA142031279 |
806 | D>E | No |
ClinGen Ensembl |
|
|
CA364899296 rs1158014721 |
807 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3911865 rs746628208 |
807 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA364899277 rs1485801821 |
809 | H>R | No |
ClinGen gnomAD |
|
|
rs1220817629 CA364899280 |
809 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1281958961 CA364899267 |
810 | H>D | No |
ClinGen gnomAD |
|
|
CA364899261 rs1214216787 |
810 | H>Q | No |
ClinGen gnomAD |
|
|
rs1435299291 CA364899255 |
811 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA364899234 rs1280117514 |
813 | M>T | No |
ClinGen gnomAD |
|
|
rs1486766443 CA364899238 |
813 | M>V | No |
ClinGen TOPMed |
|
|
rs1241085782 CA364899210 |
815 | T>I | No |
ClinGen gnomAD |
|
|
rs1337682235 CA364899207 |
816 | R>* | No |
ClinGen gnomAD |
|
|
CA364899190 rs1310667546 |
818 | L>F | No |
ClinGen gnomAD |
|
|
rs369638070 CA3911864 |
826 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369638070 CA3911863 |
826 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3911862 rs750166826 |
829 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3911860 rs757174145 |
830 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757174145 CA364899046 |
830 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757174145 CA3911861 |
830 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159717645 CA364899041 |
831 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 831 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364899032 rs1164777590 |
831 | L>R | No |
ClinGen TOPMed |
|
|
CA364899023 rs1346312592 |
832 | Q>R | No |
ClinGen TOPMed |
|
|
CA364898989 rs1582491035 |
834 | K>I | No |
ClinGen Ensembl |
|
|
CA3911857 rs375192868 |
836 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 837 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766527851 CA3911855 |
839 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3911854 rs763228014 |
840 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3911853 rs753663971 |
840 | Q>L* | No |
ClinGen ExAC gnomAD |
|
|
rs773582903 CA3911852 |
842 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3911851 rs770225115 |
843 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762356587 CA3911850 |
843 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768270002 CA3911848 |
845 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3911846 rs779857525 |
847 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA364898753 rs1227533454 |
848 | I>L | No |
ClinGen TOPMed |
|
|
rs778642905 CA3911824 |
854 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs569596440 CA142031133 |
855 | I>V | No |
ClinGen Ensembl |
|
|
rs749022701 CA3911822 |
862 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs770749195 CA3911823 |
862 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3911821 rs777688653 |
863 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA364898399 rs1343396093 |
863 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756002626 CA3911820 |
864 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230523492 CA364898361 |
865 | L>V | No |
ClinGen gnomAD |
|
|
CA364898344 rs876657385 |
866 | Q>E | No |
ClinGen gnomAD |
|
|
rs988396733 CA142031126 |
866 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 868 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758586595 CA3911817 |
869 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364898214 rs1220055134 |
870 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3911816 rs750653697 |
872 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3911815 rs765320143 |
873 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA364898093 rs1374407582 |
874 | Q>R | No |
ClinGen gnomAD |
|
|
rs879573023 CA142031115 |
876 | F>L | No |
ClinGen Ensembl |
|
|
rs1378447664 CA364897974 |
878 | E>A | No |
ClinGen gnomAD |
|
|
rs1176529149 CA364897965 |
878 | E>D | No |
ClinGen gnomAD |
|
|
CA3911812 rs767607004 |
879 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA364897937 rs1233518991 |
880 | M>L | No |
ClinGen gnomAD |
|
|
rs1297377515 CA364897904 |
881 | N>S | No |
ClinGen gnomAD |
|
|
CA3911811 rs761244153 |
882 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs774905980 CA3911810 |
883 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380226107 CA364897851 |
884 | P>A | No |
ClinGen TOPMed |
|
|
rs899103508 CA142026489 |
885 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 886 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1257134020 CA364896581 |
889 | K>R | No |
ClinGen gnomAD |
|
|
rs1582427096 CA364896569 |
890 | C>G | No |
ClinGen Ensembl |
|
|
rs1423117376 CA364896564 |
890 | C>Y | No |
ClinGen gnomAD |
|
|
rs1562165565 CA364896554 |
891 | I>V | No |
ClinGen Ensembl |
|
|
CA3911799 rs758491411 |
892 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745869916 CA3911797 |
893 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs754304184 CA3911795 |
896 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3911796 rs779227033 |
896 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA364896476 rs1163603601 |
897 | Y>H | No |
ClinGen TOPMed |
|
|
CA142026470 rs1026664676 |
899 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1416237264 CA364896403 |
905 | D>G | No |
ClinGen gnomAD |
|
|
CA3911791 rs767858097 |
908 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3911790 rs767858097 |
908 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs141948771 CA3911789 |
909 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141948771 CA142026463 |
909 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364896311 rs1228570305 |
917 | T>S | No |
ClinGen TOPMed |
|
|
rs1064793681 RCV000485240 |
921 | L>* | No |
ClinVar dbSNP |
|
|
rs768689796 CA3911763 |
922 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs760500006 CA3911762 |
923 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA142026295 rs774642875 |
926 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3911761 rs774642875 |
926 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3911760 rs771123735 |
926 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364896248 rs1309112893 |
927 | E>A | No |
ClinGen gnomAD |
|
|
CA364896242 rs1298934012 |
928 | L>V | No |
ClinGen gnomAD |
|
|
rs370571155 CA3911757 |
933 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1434543155 CA364896182 |
935 | V>I | No |
ClinGen gnomAD |
|
|
CA3911744 rs775585692 |
937 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3911742 rs763152518 |
944 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA364896121 rs763152518 |
944 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 944 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364896104 rs1421246798 |
946 | M>I | No |
ClinGen TOPMed |
|
|
rs373228746 CA3911741 |
947 | M>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
1 associated diseases with Q9Y5W7
[MIM: 616354]: Spinocerebellar ataxia, autosomal recessive, 20 (SCAR20)
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened facial features, severely delayed psychomotor development with poor or absent speech, and intellectual disability. {ECO:0000269|PubMed:25439728, ECO:0000269|PubMed:25848753, ECO:0000269|PubMed:26443249}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened facial features, severely delayed psychomotor development with poor or absent speech, and intellectual disability. {ECO:0000269|PubMed:25439728, ECO:0000269|PubMed:25848753, ECO:0000269|PubMed:26443249}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for Q9Y5W7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Phox homology | 567 - 690 | IPR001683 |
| domain | Phox-associated domain | 130 - 304 | IPR003114 |
| domain | Sorting nexin, C-terminal | 807 - 910 | IPR013937 |
| domain | RGS domain | 336 - 468 | IPR016137 |
| domain | Sorting nexin-14, PX domain | 564 - 686 | IPR037436 |
| domain | SNX14, RGS domain | 340 - 466 | IPR037892 |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| late endosome | A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center. |
| late endosome membrane | The lipid bilayer surrounding a late endosome. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidylinositol binding | Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
| phosphatidylinositol-3,5-bisphosphate binding | Binding to phosphatidylinositol-3,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' and 5' positions. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| autophagosome maturation | Removal of PI3P and Atg8/LC3 after the closure of the phagophore and before the fusion with the endosome/lysosome (e.g. mammals and insects) or vacuole (yeast), and that very likely destabilizes other Atg proteins and thus enables their efficient dissociation and recycling. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q96S38 | RPS6KC1 | Ribosomal protein S6 kinase delta-1 | Homo sapiens (Human) | PR |
| Q96BR1 | SGK3 | Serine/threonine-protein kinase Sgk3 | Homo sapiens (Human) | SS |
| Q9Y5W8 | SNX13 | Sorting nexin-13 | Homo sapiens (Human) | PR |
| Q6PHS6 | Snx13 | Sorting nexin-13 | Mus musculus (Mouse) | PR |
| Q8BLK9 | Rps6kc1 | Ribosomal protein S6 kinase delta-1 | Mus musculus (Mouse) | PR |
| Q3ZT31 | Snx25 | Sorting nexin-25 | Mus musculus (Mouse) | PR |
| Q9ERE3 | Sgk3 | Serine/threonine-protein kinase Sgk3 | Mus musculus (Mouse) | PR |
| Q8BHY8 | Snx14 | Sorting nexin-14 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVPWVRTMGQ | KLKQRLRLDV | GREICRQYPL | FCFLLLCLSA | ASLLLNRYIH | ILMIFWSFVA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GVVTFYCSLG | PDSLLPNIFF | TIKYKPKQLG | LQELFPQGHS | CAVCGKVKCK | RHRPSLLLEN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YQPWLDLKIS | SKVDASLSEV | LELVLENFVY | PWYRDVTDDE | SFVDELRITL | RFFASVLIRR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IHKVDIPSII | TKKLLKAAMK | HIEVIVKARQ | KVKNTEFLQQ | AALEEYGPEL | HVALRSRRDE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LHYLRKLTEL | LFPYILPPKA | TDCRSLTLLI | REILSGSVFL | PSLDFLADPD | TVNHLLIIFI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DDSPPEKATE | PASPLVPFLQ | KFAEPRNKKP | SVLKLELKQI | REQQDLLFRF | MNFLKQEGAV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HVLQFCLTVE | EFNDRILRPE | LSNDEMLSLH | EELQKIYKTY | CLDESIDKIR | FDPFIVEEIQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RIAEGPYIDV | VKLQTMRCLF | EAYEHVLSLL | ENVFTPMFCH | SDEYFRQLLR | GAESPTRNSK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LNRGSLSLDD | FRNTQKRGES | FGISRIGSKI | KGVFKSTTME | GAMLPNYGVA | EGEDDFIEEG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IVVMEDDSPV | EAVSTPNTPR | NLAAWKISIP | YVDFFEDPSS | ERKEKKERIP | VFCIDVERND |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RRAVGHEPEH | WSVYRRYLEF | YVLESKLTEF | HGAFPDAQLP | SKRIIGPKNY | EFLKSKREEF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QEYLQKLLQH | PELSNSQLLA | DFLSPNGGET | QFLDKILPDV | NLGKIIKSVP | GKLMKEKGQH |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LEPFIMNFIN | SCESPKPKPS | RPELTILSPT | SENNKKLFND | LFKNNANRAE | NTERKQNQNY |
| 790 | 800 | 810 | 820 | 830 | 840 |
| FMEVMTVEGV | YDYLMYVGRV | VFQVPDWLHH | LLMGTRILFK | NTLEMYTDYY | LQCKLEQLFQ |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EHRLVSLITL | LRDAIFCENT | EPRSLQDKQK | GAKQTFEEMM | NYIPDLLVKC | IGEETKYESI |
| 910 | 920 | 930 | 940 | ||
| RLLFDGLQQP | VLNKQLTYVL | LDIVIQELFP | ELNKVQKEVT | SVTSWM |