Q8IYS0
PR
Gene name |
GRAMD1C (UNQ2543/PRO6095) |
Protein name |
Protein Aster-C |
Names |
GRAM domain-containing protein 1C |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54762 |
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
2 structures for Q8IYS0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6GN5 | X-ray | 141 A | A | 318-504 | PDB |
| AF-Q8IYS0-F1 | Predicted | AlphaFoldDB |
520 variants for Q8IYS0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1394999219 CA354001735 |
2 | E>D | No |
ClinGen gnomAD |
|
|
CA2548191 rs757045773 |
3 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745706641 CA354001800 |
4 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2548192 COSM4157139 rs781036685 |
4 | A>S | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs781036685 CA354001775 |
4 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2548193 rs745706641 |
4 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893365031 CA354001844 |
5 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs146532435 CA2548194 |
5 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354001853 rs146532435 |
5 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2548195 rs146532435 |
5 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA81628555 rs893365031 |
5 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs893365031 CA354001837 |
5 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748184770 CA2548196 |
6 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA354001901 rs1283822422 |
7 | V>D | No |
ClinGen gnomAD |
|
|
CA354001887 rs1242175178 |
7 | V>I | No |
ClinGen gnomAD |
|
|
CA2548198 rs773648905 |
8 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222038748 CA354001928 |
8 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA354001938 rs1222038748 |
8 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2548199 rs773648905 |
8 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487336699 CA354001944 |
9 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA354001942 rs1487336699 |
9 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs775030695 CA2548204 |
9 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs777034935 CA2548203 |
9 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs777034935 CA2548201 |
9 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA2548202 rs777034935 |
9 | Q>R | No |
ClinGen ExAC gnomAD |
|
| rs866572967 | 10 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2548225 rs562411629 |
10 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA81632898 COSM1308419 rs562411629 |
10 | V>M | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs761448882 CA2548226 |
11 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 13 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2548228 rs750349258 COSM1036564 |
13 | E>G | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA354003043 rs1237365380 |
16 | S>* | No |
ClinGen Ensembl |
|
|
CA354003054 rs1239734609 |
17 | S>N | No |
ClinGen gnomAD |
|
|
rs141093598 CA2548229 |
20 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354003096 rs753696296 |
21 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1036565 CA2548231 rs753696296 |
21 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 23 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354003110 rs1404923483 |
23 | Q>K | No |
ClinGen TOPMed |
|
|
rs758603323 CA2548232 |
24 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548225853 CA2548234 |
25 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757309054 CA2548235 |
26 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA354003138 rs1480309014 |
27 | E>Q | No |
ClinGen TOPMed |
|
|
rs781684434 CA2548236 |
28 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2548237 rs746367958 |
30 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA354003166 rs1298631649 |
31 | S>G | No |
ClinGen gnomAD |
|
|
CA2548238 rs202089640 |
32 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2548240 rs369374562 |
33 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2548239 rs369374562 |
33 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1241620504 CA354003198 |
36 | E>* | No |
ClinGen TOPMed |
|
|
CA81633000 rs941692973 |
37 | N>S | No |
ClinGen Ensembl |
|
|
CA354003216 rs1269248398 |
38 | N>S | No |
ClinGen gnomAD |
|
|
rs143046502 CA2548241 |
39 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1220454825 CA354003228 |
40 | V>A | No |
ClinGen gnomAD |
|
|
CA354003230 rs1281346596 |
41 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 41 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2548243 rs774176282 |
42 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA354003248 rs1202863499 |
43 | K>N | No |
ClinGen TOPMed |
|
|
rs761336771 CA2548244 |
43 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354003252 rs1321141449 |
44 | Q>* | No |
ClinGen TOPMed |
|
|
CA354003257 rs1218874891 |
44 | Q>H | No |
ClinGen TOPMed |
|
|
rs773132771 CA2548247 |
46 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1478360012 CA354003572 |
47 | N>S | No |
ClinGen gnomAD |
|
|
rs760520551 CA2548248 |
48 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs552290581 CA2548249 |
49 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354003599 rs1393168805 |
49 | H>Y | No |
ClinGen gnomAD |
|
|
CA354003676 rs1159212133 |
53 | G>C | No |
ClinGen gnomAD |
|
|
CA354003672 rs1159212133 |
53 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 55 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354003731 rs1559774784 |
55 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs753603270 CA2548250 |
56 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs759361836 CA354003800 |
58 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs894738820 CA81633100 |
58 | W>* | No |
ClinGen gnomAD |
|
|
rs759361836 CA2548251 |
58 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA2548273 rs201700492 |
60 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1342289838 CA353992468 |
61 | S>T | No |
ClinGen TOPMed |
|
|
CA2548274 rs759271869 |
62 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 62 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353992479 rs1323523692 |
63 | T>A | No |
ClinGen gnomAD |
|
|
rs1393034857 CA353992481 |
63 | T>I | No |
ClinGen gnomAD |
|
|
rs765023465 CA2548275 |
64 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA81603309 rs901998959 |
72 | R>G | No |
ClinGen Ensembl |
|
| TCGA novel | 73 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1577143934 CA353992581 |
74 | Q>E | No |
ClinGen Ensembl |
|
|
rs1577143940 CA353992587 |
74 | Q>H | No |
ClinGen Ensembl |
|
|
CA353992612 rs1379849277 |
77 | H>D | No |
ClinGen gnomAD |
|
|
rs993558779 CA81603320 |
77 | H>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 83 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419300430 CA353992808 |
85 | I>T | No |
ClinGen TOPMed |
|
|
rs76878239 CA2548297 |
89 | A>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA81607066 rs370350476 |
90 | C>W | No |
ClinGen ESP TOPMed |
|
|
rs767593984 CA2548298 |
91 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA353994312 rs1266668174 |
92 | L>F | No |
ClinGen TOPMed |
|
|
rs904835794 CA81607072 |
93 | Q>H | No |
ClinGen Ensembl |
|
|
CA2548300 rs760779280 |
96 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs374737363 CA2548301 |
101 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755524312 COSM3426901 CA2548303 |
101 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 105 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309030269 CA353994425 |
106 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA353994451 rs1311492986 |
108 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs752969893 CA2548305 |
110 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs758815324 CA2548306 |
112 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353994485 rs1207628375 |
112 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA353994516 rs1324701837 |
114 | N>S | No |
ClinGen gnomAD |
|
|
CA353994527 rs1226795971 |
115 | I>N | No |
ClinGen gnomAD |
|
|
CA2548308 rs746682121 |
117 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA2548310 COSM228938 rs756974813 |
119 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs756974813 CA2548309 |
119 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343636258 CA353994661 |
122 | I>F | No |
ClinGen gnomAD |
|
|
rs771244416 CA2548337 |
123 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2548338 rs777022005 |
124 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA353994691 rs1438803909 |
125 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA81607764 rs959099169 |
129 | I>L | No |
ClinGen gnomAD |
|
|
rs769925124 CA2548340 |
130 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577152207 CA353994753 |
131 | F>L | No |
ClinGen Ensembl |
|
|
CA2548341 rs775503529 |
132 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1280166491 CA353994770 |
133 | T>A | No |
ClinGen TOPMed |
|
|
rs763506760 CA2548342 |
133 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245007192 CA353994774 |
134 | K>E | No |
ClinGen gnomAD |
|
|
CA2548344 rs751891001 |
135 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs767109971 CA2548346 |
136 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 136 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755510920 CA81607837 |
138 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2548348 rs755510920 |
138 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200569169 CA2548349 |
139 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753345963 CA2548350 |
139 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2548351 rs199735566 |
140 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1418872567 CA353994838 |
141 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs747909229 CA2548354 |
142 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs781499669 CA2548356 COSM1036567 |
144 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs746087705 CA2548357 |
144 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2548358 rs769971326 |
145 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1444243588 CA353994891 |
146 | Q>* | No |
ClinGen gnomAD |
|
|
rs371794909 CA81607900 |
146 | Q>H | No |
ClinGen ESP TOPMed |
|
|
rs1182118788 CA353994897 |
146 | Q>R | No |
ClinGen TOPMed |
|
|
rs1372272166 CA353994911 |
147 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs759723166 CA2548359 |
147 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA81607932 rs375458767 |
148 | V>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1294741472 CA353994928 |
149 | T>A | No |
ClinGen gnomAD |
|
|
rs1332303846 CA353994929 |
149 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1577152384 CA353994941 |
150 | E>G | No |
ClinGen Ensembl |
|
|
CA2548360 rs545590808 |
151 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs1258192009 | 153 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 155 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201025449 CA81611965 |
156 | F>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs201025449 CA353997054 |
156 | F>L | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 158 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353997123 rs1484907451 |
159 | F>C | No |
ClinGen gnomAD |
|
|
rs768633053 CA2548378 |
161 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA2548381 rs772625155 |
163 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1559793091 CA353997314 |
166 | Y>* | No |
ClinGen Ensembl |
|
|
CA2548382 rs758017272 |
166 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA2548383 rs773542780 |
168 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs760981656 CA353997358 |
168 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2548385 rs766013370 |
171 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs759022966 CA2548387 |
172 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243203342 CA353997488 |
174 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA353997489 rs1243203342 |
174 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1346652096 CA353997540 |
176 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs752317282 CA2548389 |
177 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA353997577 rs1577159858 |
178 | L>F | No |
ClinGen Ensembl |
|
|
CA2548391 rs374091640 |
179 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 181 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764074512 CA2548409 |
181 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA81621399 rs998199617 |
183 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 183 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312063261 CA354000662 |
185 | Q>E | No |
ClinGen TOPMed |
|
|
rs761604563 CA2548411 |
189 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA2548412 rs376036759 |
191 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866714599 CA81621426 |
194 | N>H | No |
ClinGen Ensembl |
|
|
rs867032898 CA81621431 |
195 | Y>* | No |
ClinGen Ensembl |
|
|
CA2548414 rs755170433 |
195 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779145868 CA2548415 |
197 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs758492067 CA2548417 |
203 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 204 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 204 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs181725618 CA2548418 |
205 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1559803285 CA354001232 |
206 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 207 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2548420 rs759452475 |
207 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781392558 CA2548421 |
209 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA354001359 rs1443749119 |
210 | S>P | No |
ClinGen TOPMed |
|
|
rs536432613 CA81621475 |
211 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA354001405 rs1228330066 |
212 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775305584 CA2548424 |
213 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567346678 CA2548423 |
213 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1280731536 CA354001463 |
214 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762496669 CA2548425 |
215 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA354001496 rs1256379817 |
216 | V>M | No |
ClinGen gnomAD |
|
|
CA2548428 rs761641860 |
217 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs779788028 CA2548442 |
220 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs952395235 CA354002580 |
223 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2548443 rs529767349 |
224 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354002597 rs1356500674 |
225 | S>G | No |
ClinGen TOPMed |
|
|
rs773711093 CA2548445 |
225 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs747733918 CA2548446 |
227 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA81623067 rs936946466 |
228 | D>V | No |
ClinGen TOPMed |
|
|
rs1326497644 CA354002690 |
232 | R>I | No |
ClinGen gnomAD |
|
|
rs1429587314 CA354002702 |
233 | D>G | No |
ClinGen TOPMed |
|
|
CA354002696 rs1373158118 |
233 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2548448 rs773151721 |
235 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766164685 CA2548450 |
237 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs763142006 CA2548452 |
238 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA354002785 rs1422603880 |
239 | S>* | No |
ClinGen TOPMed |
|
|
rs764420275 CA2548453 |
240 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2548454 rs751556575 |
244 | S>N | No |
ClinGen ExAC |
|
|
rs757380657 CA2548455 |
248 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs374197239 CA2548456 |
249 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA354002909 rs1192344111 |
249 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs576890490 CA81623124 |
250 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs377301886 CA81623128 |
254 | E>A | No |
ClinGen ESP |
|
|
rs1482630713 CA354002964 |
255 | S>A | No |
ClinGen TOPMed |
|
|
rs371194067 CA2548459 |
257 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371194067 CA354002988 |
257 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354003038 rs1224423909 |
260 | S>L | No |
ClinGen TOPMed |
|
|
rs1559807947 CA354003844 |
264 | G>V | No |
ClinGen Ensembl |
|
|
rs1196994945 CA354003876 |
266 | G>D | No |
ClinGen TOPMed |
|
|
rs764177580 CA2548472 |
267 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 269 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346241240 CA354003981 |
271 | Q>E | No |
ClinGen gnomAD |
|
|
CA354004082 rs1317640384 |
276 | T>I | No |
ClinGen TOPMed |
|
|
rs1014487565 CA81625618 |
279 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA354004178 rs1294763670 |
279 | S>R | No |
ClinGen gnomAD |
|
|
rs138569657 CA2548475 |
282 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138569657 CA354004214 |
282 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354004225 rs767634240 |
283 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 283 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767634240 CA354004223 |
283 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767634240 CA2548476 |
283 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2548477 rs750591530 |
285 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 287 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756665112 CA2548478 |
287 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2548479 rs745533053 |
289 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2548480 rs754211873 |
290 | R>G | No |
ClinGen ExAC |
|
|
CA354004442 rs1272866262 |
293 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 294 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA81625666 rs938969202 |
296 | L>P | No |
ClinGen Ensembl |
|
|
CA2548481 rs755388636 |
301 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA354004655 rs1474258556 |
303 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2548483 rs747840333 |
304 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA2548486 rs746563875 |
306 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 307 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354004835 rs1436916655 |
309 | S>R | No |
ClinGen gnomAD |
|
|
rs770817258 CA2548487 |
314 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314329451 CA354005029 |
315 | V>D | No |
ClinGen gnomAD |
|
|
CA2548489 rs745596145 |
317 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1356678979 CA354006874 |
319 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 320 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA81629837 rs984158465 |
324 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs199895173 CA2548517 COSM70972 |
325 | L>V | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1258618941 CA354007055 |
326 | H>Y | No |
ClinGen TOPMed |
|
|
rs1221120748 CA354007148 |
329 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2548518 rs776640894 |
331 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA354007217 rs1274799107 |
332 | N>H | No |
ClinGen gnomAD |
|
|
CA2548520 rs765710220 |
332 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2548519 rs199813500 |
332 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2548521 rs202101493 |
333 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs550686355 CA2548522 |
333 | R>H | Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs550686355 CA354007253 |
333 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866613409 CA81629856 COSM1722014 |
336 | H>Y | NS Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA81629880 rs868500070 |
339 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs751222053 CA2548525 |
340 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354007486 rs1169026911 |
341 | R>K | No |
ClinGen gnomAD |
|
|
CA2548526 rs571823766 |
342 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1372342423 CA354007625 |
346 | L>R | No |
ClinGen gnomAD |
|
|
CA81629939 rs940297616 |
347 | F>L | No |
ClinGen Ensembl |
|
|
CA2548530 rs779884947 |
348 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2548531 rs749059081 |
349 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1577201248 CA354007690 |
349 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 349 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754829367 CA2548532 |
351 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2548533 rs778073837 COSM1036571 |
351 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1170173436 CA354007741 |
352 | F>L | No |
ClinGen gnomAD |
|
|
rs898665303 CA81629955 |
357 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 358 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771335937 CA2548535 |
362 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2548534 rs747229200 |
362 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2548536 rs78547874 |
363 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1280556854 CA354008027 |
363 | I>T | No |
ClinGen gnomAD |
|
|
CA2548537 rs745967182 |
364 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2548551 rs778837946 |
365 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2548552 rs200286678 |
370 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354011415 rs1442459199 |
371 | T>N | No |
ClinGen TOPMed |
|
|
rs1350764870 CA354011424 |
372 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 373 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198317215 CA354011447 |
374 | L>P | No |
ClinGen TOPMed |
|
|
rs967560399 CA81637642 |
374 | L>V | No |
ClinGen TOPMed |
|
|
CA354011451 rs1206421811 |
375 | G>R | No |
ClinGen gnomAD |
|
|
CA354011463 rs1577217962 |
376 | G>V | No |
ClinGen Ensembl |
|
|
rs757519916 CA2548553 |
377 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA354011474 rs1559821887 |
377 | D>V | No |
ClinGen Ensembl |
|
|
CA354011490 rs1463897542 |
378 | Q>H | No |
ClinGen gnomAD |
|
|
CA2548556 rs199937431 |
381 | T>M | Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA354011536 rs1577218029 |
383 | T>P | No |
ClinGen Ensembl |
|
|
rs769768386 CA2548557 |
384 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354011561 rs1296725543 |
385 | T>I | No |
ClinGen TOPMed |
|
|
CA354011553 rs1197009212 |
385 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354011559 rs1296725543 |
385 | T>S | No |
ClinGen TOPMed |
|
|
CA354011570 rs1161523685 |
386 | I>R | No |
ClinGen gnomAD |
|
|
CA354011568 rs1161523685 |
386 | I>T | No |
ClinGen gnomAD |
|
|
CA2548558 rs375636599 |
386 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354011588 rs1395731680 |
388 | L>F | No |
ClinGen TOPMed |
|
|
CA354011621 rs762193462 |
391 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762193462 CA2548562 |
391 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2548564 rs772748766 |
392 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354011651 rs1577218128 |
394 | G>E | No |
ClinGen Ensembl |
|
|
rs760161391 CA2548565 |
394 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs765802103 CA2548566 |
395 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA354011684 rs1577218144 |
397 | T>P | No |
ClinGen Ensembl |
|
|
rs371242222 CA81637732 |
398 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2548567 rs753455404 |
398 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs754942702 CA2548568 |
400 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 401 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs949963437 CA81637740 |
402 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 403 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421948199 CA354012568 |
404 | T>I | No |
ClinGen gnomAD |
|
|
CA2548588 rs759146803 |
405 | L>P | No |
ClinGen ExAC |
|
|
CA2548591 rs763014829 |
406 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs570270262 CA2548590 |
406 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs145584975 CA2548592 |
407 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2548593 rs751424806 |
408 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1414840818 CA354012717 |
409 | S>G | No |
ClinGen gnomAD |
|
|
CA2548594 rs756261763 |
410 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA81639629 rs564143150 |
410 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA81639649 rs199701091 |
413 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA2548597 rs201759900 |
413 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA81639657 rs377706333 |
414 | F>L | No |
ClinGen TOPMed |
|
|
CA354012852 rs1272732984 |
415 | Y>H | No |
ClinGen gnomAD |
|
|
rs1314211431 CA354012950 |
417 | V>G | No |
ClinGen TOPMed |
|
|
COSM727147 CA2548598 rs779321698 |
417 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2548599 rs748595895 |
419 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA354013181 rs1482326569 |
423 | T>A | No |
ClinGen gnomAD |
|
|
CA2548600 rs369371422 |
423 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354013159 rs1482326569 |
423 | T>P | No |
ClinGen gnomAD |
|
|
rs777978049 CA2548601 |
424 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA354013280 rs1200696483 |
424 | H>Y | No |
ClinGen Ensembl |
|
|
rs776437621 CA2548604 |
427 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2548603 rs770449892 |
427 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354013423 rs770449892 |
427 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575207441 CA81639703 |
428 | Y>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA354013489 rs1313000444 |
429 | H>Q | No |
ClinGen gnomAD |
|
|
CA2548605 rs759052577 |
429 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA354013562 rs1421260097 |
431 | Y>C | No |
ClinGen TOPMed |
|
|
CA2548606 rs769424563 |
432 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs775198817 CA2548607 |
432 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA354013603 rs769424563 |
432 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA2548608 rs762781771 |
433 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1192635745 CA354013614 |
433 | Y>N | No |
ClinGen TOPMed |
|
|
rs766527630 CA2548612 |
435 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs148051584 CA2548611 |
435 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754061293 CA2548613 |
437 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA81639751 rs754061293 |
437 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA2548615 rs765283062 |
438 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs572482592 CA2548614 |
438 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1251951177 CA354013869 |
440 | I>T | No |
ClinGen TOPMed |
|
|
rs376128249 CA2548618 |
441 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2548619 rs778373601 COSM1670449 |
442 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs747844539 CA2548621 |
442 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747844539 CA2548620 |
442 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354013934 rs1234244630 |
443 | S>P | No |
ClinGen TOPMed |
|
|
CA2548623 rs745502928 |
444 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA2548622 rs377695842 |
444 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA354013980 rs1422701288 |
445 | K>E | No |
ClinGen gnomAD |
|
|
rs1413392030 CA354014015 |
446 | Q>* | No |
ClinGen gnomAD |
|
|
CA354014032 rs1159139626 |
446 | Q>H | No |
ClinGen gnomAD |
|
|
CA81639764 rs1012259921 |
449 | R>G | No |
ClinGen gnomAD |
|
|
rs1160544971 CA354014400 |
451 | R>S | No |
ClinGen TOPMed |
|
|
rs910421634 CA81640428 |
452 | V>I | No |
ClinGen TOPMed |
|
|
CA2548644 rs200798750 |
453 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs144113507 CA2548645 |
454 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 455 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156278387 CA354014624 |
457 | K>* | No |
ClinGen TOPMed |
|
|
rs772043721 CA2548647 |
458 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA354014729 rs74551540 |
459 | R>I | No |
ClinGen gnomAD |
|
|
rs74551540 CA81640444 |
459 | R>K | No |
ClinGen gnomAD |
|
|
CA81640445 rs76226198 |
460 | K>N | No |
ClinGen Ensembl |
|
|
rs1040169785 CA81640447 |
463 | W>R | No |
ClinGen TOPMed |
|
| TCGA novel | 466 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354014963 rs1192708490 |
466 | V>I | No |
ClinGen TOPMed |
|
|
CA81640449 rs981314957 |
467 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM1693213 rs772959547 CA2548648 |
471 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs375864967 CA2548649 CA2548650 |
472 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1368560898 CA354015168 |
475 | W>* | No |
ClinGen gnomAD |
|
|
rs1180891284 CA354015152 |
475 | W>R | No |
ClinGen gnomAD |
|
|
rs1473389105 CA354015231 |
478 | L>W | No |
ClinGen gnomAD |
|
|
CA2548652 rs370612537 |
479 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354015453 rs1284001185 |
485 | L>F | No |
ClinGen TOPMed |
|
|
CA353993071 rs1322645231 |
488 | D>Y | No |
ClinGen gnomAD |
|
|
CA353993117 rs1427993434 |
489 | L>F | No |
ClinGen gnomAD |
|
|
rs1392455765 CA353993102 |
489 | L>M | No |
ClinGen gnomAD |
|
|
CA353993184 rs1402989267 |
492 | E>D | No |
ClinGen gnomAD |
|
|
CA2548669 rs140812424 |
493 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 494 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771956221 CA2548671 |
497 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2548672 rs149750566 |
499 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs17855536 CA81621872 |
503 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 504 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1284828698 CA353993452 |
504 | G>R | No |
ClinGen TOPMed |
|
|
CA81621891 rs17855537 |
505 | K>N | No |
ClinGen Ensembl |
|
|
CA81621892 rs17855538 |
506 | L>H | No |
ClinGen Ensembl |
|
|
rs1248468192 CA353993542 |
507 | T>N | No |
ClinGen TOPMed |
|
|
CA81621895 rs897211852 |
510 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1362772324 CA353993594 |
510 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 511 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2548673 rs746747693 |
513 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994173125 CA81621902 |
514 | R>* | No |
ClinGen Ensembl |
|
|
rs770757111 CA2548675 |
514 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770757111 COSM1417905 CA2548674 |
514 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs895521964 CA81621905 |
515 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1026966580 CA81621906 |
515 | T>I | No |
ClinGen Ensembl |
|
|
rs1461219603 CA353993809 |
518 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs774536362 COSM1036573 CA2548678 |
518 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs148825583 CA2548679 |
520 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 520 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1448116229 CA353993877 |
521 | E>G | No |
ClinGen gnomAD |
|
|
CA2548680 rs201775427 |
523 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs867959212 CA81621918 |
527 | S>F | No |
ClinGen Ensembl |
|
|
CA2548681 rs750973428 COSM1417906 |
527 | S>P | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1005125496 CA81621921 |
528 | S>P | No |
ClinGen TOPMed |
|
|
CA2548682 rs761327755 |
529 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353994043 rs761327755 |
529 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353994112 rs1460478225 |
531 | S>F | No |
ClinGen Ensembl |
|
|
CA2548683 rs766749182 |
532 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1034660563 CA81621928 |
534 | D>Y | No |
ClinGen Ensembl |
|
|
rs1457639761 CA353994171 |
535 | V>A | No |
ClinGen gnomAD |
|
|
rs1457639761 CA353994173 |
535 | V>G | No |
ClinGen gnomAD |
|
|
rs375462379 CA81621932 |
535 | V>M | No |
ClinGen ESP gnomAD |
|
|
CA2548685 rs754625284 |
539 | A>S | No |
ClinGen ExAC |
|
| TCGA novel | 539 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2548686 rs778459235 |
539 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381502537 CA353994241 |
541 | G>R | No |
ClinGen gnomAD |
|
|
rs543195998 CA2548700 |
545 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs543195998 CA353994458 |
545 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353994472 rs1464439781 |
546 | K>R | No |
ClinGen TOPMed |
|
|
CA2548701 rs377757169 |
547 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115892862 CA2548702 |
549 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2548703 rs764811778 |
551 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA81622695 rs1054555994 |
553 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2548705 rs79673945 COSM281499 |
555 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2548706 rs763573120 |
557 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs142040397 CA81622725 |
558 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2548708 rs757180388 |
560 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2548709 rs781017470 |
561 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 562 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1166345758 CA353995836 |
564 | F>L | No |
ClinGen gnomAD |
|
|
CA353995848 rs1466162462 |
565 | V>A | No |
ClinGen gnomAD |
|
|
CA353995842 rs1353400753 |
565 | V>M | No |
ClinGen gnomAD |
|
|
rs369625378 CA2548726 |
573 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2548725 rs762563092 COSM367331 |
573 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1366381337 CA353996062 |
574 | T>A | No |
ClinGen gnomAD |
|
|
CA81623466 rs1039153975 |
574 | T>R | No |
ClinGen TOPMed |
|
|
rs756735188 CA2548728 |
576 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459895118 CA353996211 |
582 | I>M | No |
ClinGen gnomAD |
|
|
CA2548731 rs756130528 |
582 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488461811 CA353996201 |
582 | I>V | No |
ClinGen gnomAD |
|
|
CA353996214 rs1182917748 |
583 | E>K | No |
ClinGen gnomAD |
|
|
rs1030308106 CA81623490 |
584 | H>R | No |
ClinGen Ensembl |
|
|
rs779968216 CA2548732 |
584 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs886425125 CA81623491 |
587 | Q>R | No |
ClinGen Ensembl |
|
|
rs1427126456 CA353996311 COSM1285261 |
588 | S>F | autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA353996314 rs1186273066 |
589 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA353996349 rs970698305 |
591 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA353996352 rs1433240153 COSM727146 |
591 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA81623493 rs970698305 |
591 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA353996365 rs1177539184 |
592 | L>V | No |
ClinGen gnomAD |
|
|
CA2548734 COSM3944702 rs749133112 |
593 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2548735 rs758650966 |
593 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1366348923 CA353996401 |
594 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 596 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1417907 rs267599550 CA2548736 |
597 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA353996443 rs1323160775 |
597 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1268618852 CA353996515 |
600 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs142342961 CA2548751 |
602 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2548752 rs138486935 |
604 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA81623613 rs902444147 |
606 | M>I | No |
ClinGen TOPMed |
|
|
CA353996648 rs1222033161 |
606 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2548753 rs141921135 |
606 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 607 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353996680 rs1277020218 |
609 | R>G | No |
ClinGen TOPMed |
|
|
CA353996694 rs1226736407 |
609 | R>S | No |
ClinGen TOPMed |
|
|
CA2548755 rs751726430 |
610 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs751726430 CA2548756 |
610 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs777983177 CA2548754 |
610 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341781053 CA353996833 |
616 | N>D | No |
ClinGen TOPMed |
|
|
CA353996890 rs1577229617 |
619 | Q>* | No |
ClinGen Ensembl |
|
|
rs1471404582 CA353996904 |
620 | A>S | No |
ClinGen gnomAD |
|
|
rs138939818 CA2548763 |
622 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138939818 CA2548764 |
622 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373868249 CA2548765 |
622 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772554430 CA2548767 |
626 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353997037 rs1363997904 |
626 | V>M | No |
ClinGen gnomAD |
|
|
rs551072622 CA81623683 |
628 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA2548769 COSM1036574 rs201181983 |
628 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA353997151 rs1278944124 |
630 | S>A | No |
ClinGen gnomAD |
|
|
CA353997157 rs1356753833 |
630 | S>C | No |
ClinGen gnomAD |
|
|
rs886477240 CA81623687 |
631 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA353997187 rs1289354476 |
632 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1577235374 CA353998082 |
639 | S>I | No |
ClinGen Ensembl |
|
|
rs1382701795 CA353998101 |
640 | S>L | No |
ClinGen TOPMed |
|
|
rs17853381 CA81626362 VAR_032302 |
644 | L>P | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 645 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336848264 CA353998199 |
646 | K>E | No |
ClinGen gnomAD |
|
|
rs865825482 CA81626367 |
646 | K>I | No |
ClinGen Ensembl |
|
| TCGA novel | 646 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200002911 CA2548783 |
647 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353998235 rs1443453995 |
648 | F>S | No |
ClinGen gnomAD |
|
|
rs1157002811 CA353998246 |
649 | D>Y | No |
ClinGen Ensembl |
|
|
rs771572298 CA2548786 |
650 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2548785 rs748572796 |
650 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs149363738 CA2548789 |
652 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2548791 rs770559418 |
654 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559303799 CA81626418 |
655 | K>Q | No |
ClinGen Ensembl |
|
|
CA353998395 rs1474563364 |
658 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA353998398 rs1474563364 |
658 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1167368304 CA353998410 |
659 | A>T | No |
ClinGen gnomAD |
|
|
rs776338288 CA2548792 |
659 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2548793 rs76422038 |
660 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs76422038 CA81626431 |
660 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA353998465 rs1334686021 |
662 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2548794 rs146296310 |
662 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q8IYS0
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| endoplasmic reticulum-plasma membrane contact site | A contact site between the endoplasmic reticulum membrane and the plasma membrane, structured by bridging complexes. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| cholesterol binding | Binding to cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
| cholesterol transfer activity | Removes cholesterol from a membrane or a monolayer lipid particle, transports it through the aqueous phase while protected in a hydrophobic pocket, and brings it to an acceptor membrane or lipid particle. |
| sterol binding | Binding to a sterol, a steroid containing a hydroxy group in the 3 position, closely related to cholestan-3-ol. |
| sterol transfer activity | Removes a sterol from a membrane or a monolayer lipid particle, transports it through the aqueous phase while protected in a hydrophobic pocket, and brings it to an acceptor membrane or lipid particle. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to cholesterol | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholesterol stimulus. |
| intracellular sterol transport | The directed movement of sterols within cells. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q96CP6 | GRAMD1A | Protein Aster-A | Homo sapiens (Human) | PR |
| Q3KR37 | GRAMD1B | Protein Aster-B | Homo sapiens (Human) | PR |
| Q80TI0 | Gramd1b | Protein Aster-B | Mus musculus (Mouse) | PR |
| Q9ZVT9 | At1g03370 | C2 and GRAM domain-containing protein At1g03370 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FGS8 | At5g50170 | C2 and GRAM domain-containing protein At5g50170 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEGAPTVRQV | MNEGDSSLAT | DLQEDVEENP | SPTVEENNVV | VKKQGPNLHN | WSGDWSFWIS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSTYKDRNEE | YRRQFTHLPD | TERLIADYAC | ALQRDILLQG | RLYLSENWLC | FYSNIFRWET |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TISIALKNIT | FMTKEKTARL | IPNAIQIVTE | SEKFFFTSFG | ARDRSYLSIF | RLWQNVLLDK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SLTRQEFWQL | LQQNYGTELG | LNAEEMENLS | LSIEDVQPRS | PGRSSLDDSG | ERDEKLSKSI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SFTSESISRV | SETESFDGNS | SKGGLGKEES | QNEKQTKKSL | LPTLEKKLTR | VPSKSLDLNK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NEYLSLDKSS | TSDSVDEENV | PEKDLHGRLF | INRIFHISAD | RMFELLFTSS | RFMQKFASSR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NIIDVVSTPW | TAELGGDQLR | TMTYTIVLNS | PLTGKCTAAT | EKQTLYKESR | EARFYLVDSE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VLTHDVPYHD | YFYTVNRYCI | IRSSKQKCRL | RVSTDLKYRK | QPWGLVKSLI | EKNSWSSLED |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YFKQLESDLL | IEESVLNQAI | EDPGKLTGLR | RRRRTFNRTA | ETVPKLSSQH | SSGDVGLGAK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GDITGKKKEM | ENYNVTLIVV | MSIFVLLLVL | LNVTLFLKLS | KIEHAAQSFY | RLRLQEEKSL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NLASDMVSRA | ETIQKNKDQA | HRLKGVLRDS | IVMLEQLKSS | LIMLQKTFDL | LNKNKTGMAV |
| ES |