C9JL84
PR
Gene name |
HHLA1 |
Protein name |
HERV-H LTR-associating protein 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10086 |
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 C9JL84
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-C9JL84-F1 | Predicted | AlphaFoldDB |
479 variants for C9JL84
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4880394 rs774615079 |
2 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA372214220 rs1461249333 |
4 | F>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA185415706 rs949403960 |
7 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4880393 rs764177411 |
7 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1017410934 CA185415699 |
8 | G>D | No |
ClinGen Ensembl |
|
|
CA372214189 rs1418902669 |
9 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA185415681 rs1008648156 |
11 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs890382706 CA185415679 |
11 | M>T | No |
ClinGen Ensembl |
|
|
CA185415689 rs1008648156 |
11 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1416985842 CA372214163 |
14 | C>S | No |
ClinGen gnomAD |
|
|
CA372214160 rs1268983359 |
14 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA372214149 rs1191624420 |
15 | M>I | No |
ClinGen gnomAD |
|
|
rs1467856428 CA372214145 |
16 | G>R | No |
ClinGen gnomAD |
|
|
rs1210470961 CA372214130 |
18 | A>S | No |
ClinGen gnomAD |
|
|
rs370991805 CA4880390 |
20 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1314237013 CA372214071 |
22 | S>F | No |
ClinGen gnomAD |
|
|
CA372214069 rs1314237013 |
22 | S>Y | No |
ClinGen gnomAD |
|
|
CA4880389 rs769726560 |
23 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440649922 CA372214052 |
24 | W>G | No |
ClinGen gnomAD |
|
|
rs993426539 CA185415664 |
25 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA372214014 rs1278463008 |
26 | T>I | No |
ClinGen TOPMed |
|
|
CA185415168 rs188956688 |
29 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4880382 rs188956688 |
29 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA185415165 rs188956688 |
29 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1190857743 CA372213899 |
30 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs200396937 CA185415162 |
34 | A>D | No |
ClinGen gnomAD |
|
|
CA372213869 rs1425670344 |
34 | A>P | No |
ClinGen gnomAD |
|
|
rs1425670344 CA372213870 |
34 | A>T | No |
ClinGen gnomAD |
|
|
rs200396937 CA372213868 |
34 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 37 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372213817 rs1277026719 |
39 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372213790 rs1371986625 |
40 | M>I | No |
ClinGen TOPMed |
|
|
CA372213779 rs1443302934 |
41 | T>N | No |
ClinGen TOPMed |
|
|
CA185415151 rs971878131 COSM1218255 |
44 | P>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA372213732 rs1339076713 |
45 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 46 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs529155312 CA4880380 |
46 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4880379 rs568378336 |
47 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs568378336 CA372213710 |
47 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1435628969 CA372212105 |
51 | R>K | No |
ClinGen gnomAD |
|
|
rs934136184 CA185412585 |
54 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA372211954 rs1375045503 |
55 | R>K | No |
ClinGen gnomAD |
|
|
CA4880353 rs753509557 |
59 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185412560 rs1040165117 |
59 | G>W | No |
ClinGen TOPMed |
|
|
CA372211801 rs1586735013 |
60 | V>G | No |
ClinGen Ensembl |
|
|
CA372211786 rs1399858773 |
61 | A>E | No |
ClinGen TOPMed |
|
|
CA372211722 rs1284147525 |
63 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 63 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377199177 CA4880352 |
65 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4880351 rs372820713 COSM3317697 |
66 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1485833647 CA372211592 |
67 | E>* | No |
ClinGen gnomAD |
|
|
CA372210990 rs1236949110 |
68 | L>V | No |
ClinGen TOPMed |
|
|
CA185411636 rs761760344 |
69 | P>L | No |
ClinGen Ensembl |
|
|
rs145155340 CA4880339 |
70 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4880338 rs145155340 |
70 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1298004755 CA372210971 |
71 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1440462285 CA372210966 |
72 | S>* | No |
ClinGen gnomAD |
|
|
CA4880337 rs752776910 |
73 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372210956 rs1329411009 |
74 | D>Y | No |
ClinGen TOPMed |
|
|
rs1461539332 CA372210949 |
75 | L>V | No |
ClinGen gnomAD |
|
|
CA4880336 rs779136813 |
76 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372210937 rs1023505309 |
77 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA185411595 rs1013632868 |
77 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA185411594 rs1023505309 |
77 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1479500675 CA372210924 |
79 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1334286771 CA372210908 |
82 | E>G | No |
ClinGen gnomAD |
|
|
rs1214201416 CA372210911 |
82 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 83 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1271400744 CA372210899 |
83 | L>P | No |
ClinGen gnomAD |
|
|
CA4880332 rs549828841 |
84 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs960226790 CA185411559 |
85 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1317817692 CA372210881 |
86 | G>A | No |
ClinGen gnomAD |
|
|
CA372210871 rs1306490731 |
87 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372210864 rs1373599273 |
89 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4880331 rs75623295 |
90 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372210846 rs369994118 |
91 | A>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA185411528 rs369994118 |
91 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1563748842 CA584899429 |
92 | L>C | No |
ClinGen Ensembl |
|
|
rs1195189779 CA372210020 |
95 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs201357335 CA4880320 |
95 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4880319 rs772640542 |
97 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372209971 rs1486816777 |
98 | F>L | No |
ClinGen gnomAD |
|
|
CA372209946 rs1563747994 |
100 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 100 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372209929 rs1437949870 |
101 | L>F | No |
ClinGen TOPMed |
|
|
rs1228729535 CA372209891 |
104 | V>A | No |
ClinGen gnomAD |
|
|
rs1253622708 CA372209897 |
104 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1337018782 CA372209881 |
105 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA185409497 rs900259980 |
107 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1038721664 CA185409481 |
108 | S>G | No |
ClinGen TOPMed |
|
|
rs1261431283 CA372209831 |
109 | S>Y | No |
ClinGen TOPMed |
|
|
rs1397583834 CA372209828 |
110 | F>L | No |
ClinGen gnomAD |
|
|
rs1357037503 CA372209824 |
110 | F>S | No |
ClinGen gnomAD |
|
|
CA372209820 rs1032428923 |
111 | A>P | No |
ClinGen gnomAD |
|
|
CA185409474 rs1032428923 |
111 | A>S | No |
ClinGen gnomAD |
|
|
rs1032428923 CA185409477 |
111 | A>T | No |
ClinGen gnomAD |
|
|
CA372209807 rs1399732911 |
113 | H>D | No |
ClinGen gnomAD |
|
|
rs779120454 CA4880316 |
114 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1462471197 CA372209791 |
115 | F>V | No |
ClinGen gnomAD |
|
|
CA185409452 rs560448144 |
117 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372209767 rs1258488122 |
119 | V>I | No |
ClinGen gnomAD |
|
|
rs371310427 CA185409444 |
121 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1586733358 CA372209731 |
122 | I>T | No |
ClinGen Ensembl |
|
|
rs1227242198 CA372209700 |
127 | T>A | No |
ClinGen gnomAD |
|
|
CA372209697 rs1353896524 |
127 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs759144068 CA4880303 |
128 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329251822 CA372209690 |
129 | D>N | No |
ClinGen gnomAD |
|
|
rs1443073251 CA372209680 |
130 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA185409333 rs796531183 |
131 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs966524145 CA372209649 |
135 | T>A | No |
ClinGen TOPMed |
|
|
CA185409330 rs966524145 |
135 | T>P | No |
ClinGen TOPMed |
|
|
CA185409329 rs1030154227 |
136 | R>G | No |
ClinGen TOPMed |
|
|
CA372209635 rs1563747883 |
137 | Y>F | No |
ClinGen Ensembl |
|
|
rs1469968071 CA372209622 |
139 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA185409325 rs192253377 COSM1218261 |
142 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed gnomAD |
|
rs368730273 CA4880298 |
144 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs528271155 CA4880299 |
144 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1449311634 CA372209545 |
146 | N>S | No |
ClinGen gnomAD |
|
|
rs1285954599 CA372209521 |
147 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1318158952 CA372209482 |
149 | S>L | No |
ClinGen gnomAD |
|
|
CA372209495 rs1352495297 |
149 | S>T | No |
ClinGen gnomAD |
|
|
CA372221485 rs1212769998 |
152 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1241288680 CA372221470 |
155 | L>P | No |
ClinGen gnomAD |
|
|
CA372221473 rs1348243819 |
155 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4880291 rs751469382 |
157 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs757113954 CA4880292 |
157 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA185436743 rs892640829 |
158 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372221448 rs1270915212 |
159 | I>F | No |
ClinGen gnomAD |
|
|
CA372221444 rs6471038 |
159 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372221446 rs1399466845 |
159 | I>T | No |
ClinGen gnomAD |
|
|
CA185436742 rs993649662 |
160 | G>S | No |
ClinGen TOPMed |
|
|
rs1474710785 CA372221437 |
161 | N>D | No |
ClinGen TOPMed |
|
|
CA372221386 rs1435767623 |
168 | E>A | No |
ClinGen gnomAD |
|
|
CA185436740 rs907296676 |
176 | L>F | No |
ClinGen TOPMed |
|
|
CA185436739 rs1001027644 |
178 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372221322 rs1001027644 |
178 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA372221295 rs1378675522 |
180 | Q>R | No |
ClinGen gnomAD |
|
|
CA372221288 rs1301522297 |
181 | S>N | No |
ClinGen gnomAD |
|
|
CA372221251 rs1355636102 |
186 | C>R | No |
ClinGen gnomAD |
|
|
rs532001524 CA185436584 |
187 | I>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs564627514 CA185436583 |
189 | I>F | No |
ClinGen 1000Genomes |
|
|
rs192480843 CA185436582 |
189 | I>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1419122158 CA372221222 |
190 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372221223 rs1419122158 |
190 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs985447392 CA185436580 |
192 | M>I | No |
ClinGen TOPMed |
|
|
CA185436581 rs560044613 |
192 | M>T | No |
ClinGen TOPMed |
|
|
CA185436579 rs889801493 |
193 | T>A | No |
ClinGen Ensembl |
|
|
CA4880277 rs527668803 |
193 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs527668803 CA185436578 |
193 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs867856926 CA185436577 |
194 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1179911839 CA372221197 |
195 | K>Q | No |
ClinGen gnomAD |
|
|
CA372221169 rs1437828552 |
197 | G>E | No |
ClinGen gnomAD |
|
|
rs1254804478 CA372221148 |
200 | L>H | No |
ClinGen gnomAD |
|
| TCGA novel | 203 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766077523 CA4880263 |
204 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA185436571 rs895553778 |
204 | W>R | No |
ClinGen TOPMed |
|
|
rs760432161 CA4880262 |
205 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1263933990 CA372221104 |
206 | I>T | No |
ClinGen gnomAD |
|
|
rs1218154787 CA372221100 |
207 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA372221088 rs1317722558 |
208 | E>D | No |
ClinGen gnomAD |
|
|
CA372221073 rs1213116360 |
210 | Y>* | No |
ClinGen gnomAD |
|
|
CA185436570 rs776830030 |
210 | Y>H | No |
ClinGen TOPMed |
|
|
rs1424437600 CA372221049 |
214 | N>D | No |
ClinGen TOPMed |
|
|
rs1238412659 CA372221047 |
214 | N>S | No |
ClinGen gnomAD |
|
|
CA185436569 rs574254835 |
215 | Y>H | No |
ClinGen gnomAD |
|
|
rs1364527492 CA372221032 |
216 | T>R | No |
ClinGen gnomAD |
|
|
rs1001132566 CA185436568 |
218 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA372221011 rs138673082 |
219 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1455055931 CA372221007 |
220 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1455055931 CA372221008 |
220 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4880258 rs775930523 |
221 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1360766324 CA372221000 |
221 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1360766324 CA372220999 |
221 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA4880257 rs769888699 |
222 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553835914 CA4880256 |
223 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 223 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1411938985 CA372220992 |
223 | G>S | No |
ClinGen TOPMed |
|
|
rs776714149 CA4880255 |
225 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1432696749 CA372220980 |
225 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 226 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309088175 CA372219540 |
227 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA185434949 rs994437694 |
228 | A>G | No |
ClinGen TOPMed |
|
|
CA185434947 rs866896995 |
231 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA372219512 rs866896995 COSM3951295 |
231 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA372219500 rs1294741032 |
233 | A>D | No |
ClinGen gnomAD |
|
|
rs552901833 CA185434944 |
234 | R>G | No |
ClinGen 1000Genomes |
|
| TCGA novel | 235 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458154572 CA372219488 |
235 | T>I | No |
ClinGen gnomAD |
|
|
CA4880212 rs370948289 |
237 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA185434941 rs1046612283 |
238 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1046612283 CA372219474 |
238 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA372219464 rs1198599534 |
239 | T>I | No |
ClinGen TOPMed |
|
|
rs1586727263 CA372219463 |
240 | T>P | No |
ClinGen Ensembl |
|
|
CA372219459 rs1421215625 |
240 | T>S | No |
ClinGen gnomAD |
|
|
CA372219455 rs1272601955 |
241 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 247 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1586727260 CA372219403 |
248 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 248 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs949157250 CA185434936 |
249 | T>K | No |
ClinGen TOPMed |
|
|
rs894812310 CA185434934 |
250 | S>N | No |
ClinGen TOPMed |
|
|
CA4880211 rs2403730 |
251 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780786949 CA4880209 |
252 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372219338 rs1269614008 |
253 | H>P | No |
ClinGen gnomAD |
|
|
CA372219325 rs1488313865 |
254 | W>* | No |
ClinGen gnomAD |
|
|
rs113663374 CA372219328 |
254 | W>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4880208 rs113663374 CA185434928 |
254 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs16904585 CA4880207 |
256 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA185434927 rs994787244 |
256 | Q>R | No |
ClinGen Ensembl |
|
|
rs140119218 CA4880206 |
257 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4880205 rs755374977 |
257 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1034804524 CA185434924 |
259 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 261 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360764569 CA372219237 |
261 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 262 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377366447 CA4880203 |
262 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756674684 CA4880202 |
262 | S>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 265 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4880200 rs767644643 |
265 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4880198 rs552006991 |
267 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372219159 rs1586727205 |
268 | P>R | No |
ClinGen Ensembl |
|
| TCGA novel | 269 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360989071 CA372219130 |
270 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372219132 rs1360989071 |
270 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1275864551 CA372219087 |
274 | A>T | No |
ClinGen TOPMed |
|
|
CA372219068 rs1370222811 |
275 | P>L | No |
ClinGen gnomAD |
|
|
rs907286959 CA185434915 |
278 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1451633187 CA372219029 |
279 | E>Q | No |
ClinGen gnomAD |
|
|
rs1176901836 CA372219007 |
280 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA372219014 rs1379289339 |
280 | E>K | No |
ClinGen gnomAD |
|
|
rs533647517 CA185434913 |
281 | T>N | No |
ClinGen 1000Genomes |
|
|
rs1045774554 CA185434911 |
282 | L>P | No |
ClinGen Ensembl |
|
|
rs1208636642 CA372218960 |
284 | T>I | No |
ClinGen TOPMed |
|
|
rs1196056806 CA372218931 |
286 | R>S | No |
ClinGen gnomAD |
|
|
rs1488721343 CA372218909 |
288 | P>L | No |
ClinGen gnomAD |
|
|
rs1263000336 CA372218908 |
289 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 290 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4880196 rs763953703 |
291 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA372218862 rs1257029777 |
292 | A>G | No |
ClinGen gnomAD |
|
|
rs762895215 CA4880195 |
294 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762895215 CA372218840 |
294 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775452513 CA372218829 |
295 | T>A | No |
ClinGen ExAC TOPMed |
|
|
rs775452513 CA4880194 |
295 | T>P | No |
ClinGen ExAC TOPMed |
|
|
CA372218826 rs1220136086 |
295 | T>R | No |
ClinGen gnomAD |
|
|
CA372218812 rs1421669319 |
296 | A>V | No |
ClinGen TOPMed |
|
|
CA185434903 rs946223441 |
300 | S>C | No |
ClinGen Ensembl |
|
|
CA185434901 rs183276434 |
300 | S>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1166977595 CA372218756 |
301 | A>V | No |
ClinGen gnomAD |
|
|
CA4880193 rs769814595 |
302 | S>P | No |
ClinGen ExAC |
|
|
rs1380258001 CA372218741 |
304 | T>A | No |
ClinGen gnomAD |
|
|
CA372218739 rs1404274160 |
304 | T>N | No |
ClinGen gnomAD |
|
|
CA185434897 rs751512340 |
305 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372218729 rs1427335508 |
306 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 306 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457789483 CA372218623 |
310 | T>S | No |
ClinGen gnomAD |
|
|
CA185434421 rs980961982 |
312 | R>T | No |
ClinGen Ensembl |
|
|
CA372218605 rs766497069 |
312 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA185434419 rs867627923 |
314 | A>T | No |
ClinGen gnomAD |
|
|
rs1380497469 CA372218569 |
315 | R>G | No |
ClinGen gnomAD |
|
|
rs1311311788 CA372218551 |
316 | T>I | No |
ClinGen gnomAD |
|
|
CA372218516 rs1326898631 |
318 | W>C | No |
ClinGen gnomAD |
|
|
rs1376312986 CA372218518 |
318 | W>L | No |
ClinGen gnomAD |
|
|
rs1447635171 CA372218528 |
318 | W>R | No |
ClinGen gnomAD |
|
|
rs377117882 CA185434415 |
320 | T>S | No |
ClinGen Ensembl |
|
|
rs867140036 CA185434412 |
321 | A>T | No |
ClinGen Ensembl |
|
|
CA372218489 rs1391710884 |
322 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA185434409 rs891777236 |
324 | Q>P | No |
ClinGen TOPMed |
|
|
CA4880184 rs561096835 |
325 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4880181 rs781124073 |
326 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372218462 rs1231853480 |
326 | W>* | No |
ClinGen gnomAD |
|
|
rs750994680 CA372218466 CA4880182 |
326 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA372218450 rs1179026695 |
328 | S>Y | No |
ClinGen gnomAD |
|
|
rs1267528638 CA372218447 |
329 | I>L | No |
ClinGen gnomAD |
|
|
rs369879360 CA4880178 |
330 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369879360 CA4880179 |
330 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372218427 rs1185401377 |
332 | V>A | No |
ClinGen gnomAD |
|
|
CA4880176 rs118152489 COSM1218249 COSM1218250 |
332 | V>M | large_intestine Variant assessed as Somatic; 5.94e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA372218420 rs1336674438 |
333 | P>L | No |
ClinGen TOPMed |
|
|
rs1325705246 CA372218423 |
333 | P>S | No |
ClinGen TOPMed |
|
|
rs1438636104 CA372218408 |
335 | A>S | No |
ClinGen gnomAD |
|
|
CA372218410 rs1438636104 |
335 | A>T | No |
ClinGen gnomAD |
|
|
rs1331909689 CA372218402 |
336 | Q>* | No |
ClinGen gnomAD |
|
|
rs1331909689 CA372218403 |
336 | Q>E | No |
ClinGen gnomAD |
|
|
rs370031939 CA4880175 |
336 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1037440867 CA185434395 |
338 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 339 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372218368 rs1350062337 |
341 | K>E | No |
ClinGen TOPMed |
|
|
rs1310190530 CA372218363 |
341 | K>N | No |
ClinGen gnomAD |
|
|
rs1586726393 CA372218355 |
342 | K>N | No |
ClinGen Ensembl |
|
|
rs940371748 CA185434392 |
342 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1419682884 CA372218352 |
343 | P>S | No |
ClinGen gnomAD |
|
|
CA372218339 rs1332639075 |
345 | G>E | No |
ClinGen TOPMed |
|
|
rs776699143 CA4880173 |
346 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372218332 rs776699143 |
346 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377861681 CA372218304 |
350 | T>I | No |
ClinGen gnomAD |
|
|
rs1377861681 CA372218305 |
350 | T>S | No |
ClinGen gnomAD |
|
|
rs192941170 CA185434387 |
351 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs192941170 CA4880172 |
351 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs192941170 CA185434389 |
351 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 352 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1563742337 CA372218284 |
354 | P>Q | No |
ClinGen Ensembl |
|
|
CA185434382 rs879478994 |
355 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs879478994 CA185434383 |
355 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA372218281 rs1586726368 |
355 | P>T | No |
ClinGen Ensembl |
|
|
CA372218272 rs1164781832 |
356 | T>I | No |
ClinGen TOPMed |
|
|
rs1281986949 CA372218265 |
358 | A>S | No |
ClinGen gnomAD |
|
|
rs1022153046 CA185434375 |
359 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA372218250 rs1415594671 |
360 | T>I | No |
ClinGen TOPMed |
|
|
CA4880168 rs747808323 |
362 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs770258421 CA4880166 |
363 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs770080786 CA185434367 |
363 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs866055807 CA372218222 CA185434364 |
364 | M>I | No |
ClinGen gnomAD |
|
|
rs1251754159 CA372218225 |
364 | M>T | No |
ClinGen TOPMed |
|
|
rs887861004 CA185434360 |
367 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA185434359 rs375756746 |
368 | S>G | No |
ClinGen gnomAD |
|
|
CA372218202 rs375756746 |
368 | S>R | No |
ClinGen gnomAD |
|
|
CA372218197 rs1425258882 |
368 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1271980231 CA372218199 |
368 | S>T | No |
ClinGen TOPMed |
|
|
CA185434357 rs1045649481 |
369 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1045649481 CA372218191 |
369 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1187476298 CA372218187 |
370 | L>S | No |
ClinGen TOPMed |
|
| TCGA novel | 370 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1454903 COSM1454904 rs956268201 CA185434355 |
371 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA372218169 rs1212212976 |
373 | A>D | No |
ClinGen gnomAD |
|
|
rs1008770921 CA185434351 |
374 | A>T | No |
ClinGen TOPMed |
|
|
CA372218160 rs1370316483 |
374 | A>V | No |
ClinGen TOPMed |
|
|
CA185434349 rs948208184 |
375 | E>G | No |
ClinGen TOPMed |
|
|
rs1220859811 CA372218122 |
377 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA372218092 rs1201841337 |
379 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 381 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA185434347 rs375019818 CA372218056 |
382 | S>R | No |
ClinGen ESP gnomAD |
|
|
rs890348414 CA185434345 |
383 | P>L | No |
ClinGen TOPMed |
|
|
rs1214372645 CA372218035 |
384 | S>F | No |
ClinGen gnomAD |
|
|
CA372218020 rs1286285330 |
386 | A>S | No |
ClinGen gnomAD |
|
|
rs1328166038 CA372218010 |
386 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 388 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372217973 rs1382674697 |
389 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372217969 rs1382674697 |
389 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs918184605 CA185434344 |
389 | T>P | No |
ClinGen gnomAD |
|
|
CA372217966 rs2280851 |
390 | L>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2280851 CA4880165 |
390 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2280851 CA372217965 |
390 | L>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1482179968 CA372217842 |
392 | A>P | No |
ClinGen TOPMed |
|
|
CA185434057 rs999136844 |
393 | F>L | No |
ClinGen TOPMed |
|
|
rs1204605673 CA372217832 |
393 | F>L | No |
ClinGen TOPMed |
|
|
CA185434055 rs778089926 |
394 | T>A | No |
ClinGen TOPMed |
|
|
rs867907614 CA185434054 |
396 | G>D | No |
ClinGen TOPMed |
|
|
rs1405696788 CA372217770 |
398 | Q>* | No |
ClinGen gnomAD |
|
|
CA4880151 rs767069155 |
399 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs772647791 CA4880152 |
399 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs779941185 CA4880150 |
400 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185434048 rs996997125 |
400 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1248607808 CA372217718 |
402 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1222814248 CA372217714 |
402 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA372217676 rs1290015518 |
405 | A>P | No |
ClinGen gnomAD |
|
|
rs776894882 CA4880146 |
407 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA4880145 rs771407042 |
408 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202790969 CA372217643 |
408 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 409 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 409 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372217628 rs1288501508 |
409 | R>S | No |
ClinGen gnomAD |
|
|
CA4880144 rs747531835 |
413 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1484520600 CA372217577 |
415 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA372217573 COSM1096179 rs1257307411 |
416 | L>F | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA372217575 COSM3669804 rs1257307411 COSM3669805 |
416 | L>I | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA372217558 rs1203682188 |
418 | A>V | No |
ClinGen gnomAD |
|
|
CA372217544 rs1220264566 |
420 | W>* | No |
ClinGen gnomAD |
|
|
rs903127245 CA185433938 |
420 | W>L | No |
ClinGen gnomAD |
|
|
CA372217537 rs1326858977 |
421 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1326858977 CA372217538 |
421 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA185433937 rs951560216 |
421 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1294548705 CA372217521 |
424 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766660322 CA4880127 |
425 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs554439709 CA185433934 |
426 | E>D | No |
ClinGen 1000Genomes |
|
|
rs1234868580 CA372217508 |
426 | E>G | No |
ClinGen TOPMed |
|
|
rs1041589225 CA185433936 |
426 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA372217503 rs1272560604 |
427 | E>K | No |
ClinGen TOPMed |
|
|
CA372217479 rs1343511381 |
431 | V>L | No |
ClinGen TOPMed |
|
|
rs1368020543 CA372217471 |
432 | P>Q | No |
ClinGen gnomAD |
|
|
rs1404229628 CA372217461 |
434 | P>A | No |
ClinGen gnomAD |
|
|
rs747515402 CA4880126 |
434 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185433931 rs947313450 |
435 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA372217451 rs1466490447 |
435 | H>Q | No |
ClinGen TOPMed |
|
|
rs947313450 CA185433930 |
435 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA372217441 rs1462657761 |
437 | V>I | No |
ClinGen gnomAD |
|
|
CA185433928 COSM3834060 rs915252661 COSM3834061 |
438 | S>L | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA372216915 rs1386433105 |
439 | R>S | No |
ClinGen gnomAD |
|
|
CA185432842 rs568204591 |
439 | R>T | No |
ClinGen 1000Genomes |
|
|
CA372216901 rs1371720759 |
440 | C>* | No |
ClinGen TOPMed |
|
|
rs1035178379 CA185432841 |
440 | C>R | No |
ClinGen Ensembl |
|
|
CA372216905 rs1163564867 |
440 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA185432839 rs1000225643 |
441 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1183337482 CA372216854 |
444 | L>F | No |
ClinGen gnomAD |
|
|
CA372216855 rs1183337482 |
444 | L>V | No |
ClinGen gnomAD |
|
|
rs1192412428 CA372216832 |
445 | F>L | No |
ClinGen gnomAD |
|
|
rs781061500 CA372216820 CA4880116 |
446 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372216801 rs1272781213 |
448 | G>E | No |
ClinGen TOPMed |
|
|
rs1212098525 CA372216807 |
448 | G>R | No |
ClinGen TOPMed |
|
|
CA372216786 rs1193891025 |
449 | A>D | No |
ClinGen gnomAD |
|
|
rs1490766162 CA372216765 COSM3781380 |
451 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA4880114 rs751019199 |
452 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs751019199 CA4880115 |
452 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA185432835 rs1021978865 |
454 | P>L | No |
ClinGen gnomAD |
|
|
CA372216731 rs1206643627 |
454 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 455 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372216722 rs1563740447 |
455 | L>V | No |
ClinGen Ensembl |
|
|
CA372216704 rs1221845021 |
456 | T>I | No |
ClinGen gnomAD |
|
|
rs1586724027 CA372216712 |
456 | T>P | No |
ClinGen Ensembl |
|
|
CA372216697 rs1586724016 |
457 | L>P | No |
ClinGen Ensembl |
|
|
CA372216687 rs1239775309 |
458 | A>D | No |
ClinGen gnomAD |
|
|
CA372216679 rs1306620711 |
459 | I>V | No |
ClinGen gnomAD |
|
|
rs1010538137 CA185432834 |
460 | Q>H | No |
ClinGen Ensembl |
|
|
rs762654647 CA4880112 |
462 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs969746275 CA185432833 |
464 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4880111 rs752360544 |
467 | M>L | No |
ClinGen ExAC |
|
|
CA372216566 rs1182260813 |
468 | E>Q | No |
ClinGen TOPMed |
|
|
CA185432831 rs889552167 |
469 | L>Q | No |
ClinGen Ensembl |
|
|
rs1474086879 CA372216532 |
470 | C>W | No |
ClinGen TOPMed |
|
|
CA372216520 rs1302921183 |
471 | Q>L | No |
ClinGen gnomAD |
|
|
CA372216465 rs1423362177 |
475 | Q>R | No |
ClinGen gnomAD |
|
|
CA185432830 rs541233811 |
476 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766820638 CA4880110 |
476 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA4880109 rs541233811 |
476 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372216421 rs1470165949 |
479 | M>L | No |
ClinGen gnomAD |
|
|
CA372216419 rs1470165949 |
479 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 480 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372216385 rs1362889399 |
481 | Q>* | No |
ClinGen gnomAD |
|
|
CA4880108 rs773741486 |
483 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1011748712 CA185432828 |
484 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1011748712 CA372216339 |
484 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA185432827 rs370647767 |
487 | E>Q | No |
ClinGen ESP |
|
|
CA4880107 rs538427392 |
488 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372216280 rs1221382255 |
489 | M>V | No |
ClinGen gnomAD |
|
|
CA372216263 rs556108899 |
490 | R>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs556108899 CA185432826 |
490 | R>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA185431640 rs941709058 |
491 | Y>H | No |
ClinGen TOPMed |
|
|
rs1333218903 CA372215339 |
494 | E>D | No |
ClinGen TOPMed |
|
|
rs1023739222 CA185431638 |
495 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs768051538 CA185431634 |
498 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372215311 rs1380961162 |
498 | W>C | No |
ClinGen TOPMed |
|
|
rs768051538 CA4880089 |
498 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372215308 rs1420571594 |
499 | F>I | No |
ClinGen Ensembl |
|
|
rs1420571594 CA372215309 |
499 | F>L | No |
ClinGen Ensembl |
|
|
rs1165450849 CA372215288 |
502 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1307504536 CA372215283 |
502 | N>K | No |
ClinGen TOPMed |
|
|
rs1165450849 CA372215287 |
502 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs776714335 CA4880088 |
503 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372215275 rs1384745808 |
504 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs776642749 CA185431630 |
505 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1405347664 CA372215269 |
505 | Y>H | No |
ClinGen Ensembl |
|
|
CA185431628 rs771247545 |
506 | I>V | No |
ClinGen TOPMed |
|
|
rs1484399688 CA372215250 |
507 | C>W | No |
ClinGen TOPMed |
|
|
rs1233623606 CA372215248 |
508 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 508 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372215241 rs1204294140 |
509 | R>G | No |
ClinGen gnomAD |
|
|
CA372215239 rs1436478674 |
509 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA372215237 rs1436478674 |
509 | R>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 510 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA185431626 rs140892018 |
512 | R>M | No |
ClinGen 1000Genomes |
|
|
rs1247433934 CA372215215 COSM4138625 |
512 | R>S | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs774756842 CA4880087 |
513 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774756842 CA372215213 |
513 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185431623 rs1034791646 |
514 | S>F | No |
ClinGen TOPMed |
|
|
rs1421451596 CA372215203 |
515 | H>D | No |
ClinGen TOPMed |
|
|
rs1313754020 CA372215191 |
516 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372215188 rs1375116868 |
517 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 518 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs77075526 CA4880085 |
518 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372215162 rs1405285002 |
519 | L>* | No |
ClinGen gnomAD |
|
|
CA4880074 rs773389296 |
523 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291763065 CA372215102 |
527 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 528 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376685281 CA372215098 |
528 | C>R | No |
ClinGen TOPMed |
|
|
CA372215080 rs1210670999 |
530 | S>F | No |
ClinGen gnomAD |
|
|
CA4880073 rs778578522 |
530 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA4880072 rs542728390 |
531 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs542728390 CA185431193 |
531 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372215072 rs1292021104 |
532 | V>G | No |
ClinGen TOPMed |
No associated diseases with C9JL84
No regional properties for C9JL84
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for C9JL84 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3TYV2 | Hhla1 | HERV-H LTR-associating protein 1 homolog | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLGFLSRGPS | MKLCMGLACV | LSLWNTVSGI | KGEAKKEKGM | TFLPTTVSGL | REEERKEKGV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AFLATTELPA | RSIDLSALNL | TELVNGMLSR | ALKDSKKFFS | LLSVTSYSSF | AFHKFSVAVY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NISNLKTVDP | AKFPTRYCYC | LNNRTNDLSD | FTALLVDIIG | NSTSYLTEIF | KSTSILSVNQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SNESDCIFIC | VMTGKSGRNL | SDFWEIEEKY | PIINYTFTSG | LSGVLGAATR | GTARTSKPTT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KSQKTLPSTS | PGHWTQSTPW | ASALRSSPWT | ETAAPSETEE | TLNTGRPPEL | PARATATWFS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ASHTLPALAT | RRVARTQWLT | ADRQTWASIS | SVPWAQTISE | KKPGGSLWET | RSSPPTTAGT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EEAMNTTSLL | APAAEIMATP | GSPSQASPTL | GAFTHGTQTP | SPTKATAPRY | PQTGDLSAEW |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PFTAGEEPVL | VPRPHQVSRC | PQPLFKVGAM | AAAPLTLAIQ | RLNPCLMELC | QFFQQCLCMS |
| 490 | 500 | 510 | 520 | 530 | |
| QRSPRTEDMR | YCLEYYSWFL | KNATYICQRV | KRVSHSHTLK | QKCLENICKS | V |