Q8IXT5
PR
Gene name |
RBM12B |
Protein name |
RNA-binding protein 12B |
Names |
RNA-binding motif protein 12B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:389677 |
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 Q8IXT5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IXT5-F1 | Predicted | AlphaFoldDB |
809 variants for Q8IXT5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177491866 CA371685009 |
6 | R>C | No |
ClinGen gnomAD |
|
|
rs753558510 CA4807431 |
6 | R>H | Variant assessed as Somatic; 5.578e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371684980 rs1190037363 |
11 | P>S | No |
ClinGen gnomAD |
|
|
rs763813069 CA4807430 |
12 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA4807429 rs760906481 |
14 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA181335942 rs866995198 |
16 | P>S | No |
ClinGen gnomAD |
|
|
CA371684946 rs1232480965 |
17 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 18 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4807427 rs767824325 |
20 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs759514559 CA4807426 COSM1102472 |
20 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4807425 rs370178151 |
21 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371684921 rs1363447284 |
21 | H>Y | No |
ClinGen TOPMed |
|
|
rs1380584702 COSM2791077 CA371684894 |
24 | T>K | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1380584702 CA371684895 |
24 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1320194016 CA371684896 |
24 | T>S | No |
ClinGen gnomAD |
|
|
TCGA novel rs749826957 CA4807423 |
26 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
rs1465987466 CA371684879 |
27 | T>A | No |
ClinGen gnomAD |
|
|
rs1376488126 CA371684875 |
27 | T>I | No |
ClinGen gnomAD |
|
|
rs377435731 CA4807422 |
28 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770084363 CA4807421 |
31 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs779547646 CA4807419 |
32 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA371684849 rs1586313511 |
32 | G>R | No |
ClinGen Ensembl |
|
|
CA371684835 rs1256250167 |
34 | H>R | No |
ClinGen gnomAD |
|
|
rs745375160 CA4807417 |
35 | I>V | No |
ClinGen ExAC |
|
| TCGA novel | 36 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM2791071 rs770279735 CA181335913 |
39 | E>K | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1199749601 CA371684794 |
40 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA371684797 rs1314093238 COSM2791070 |
40 | I>V | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1482228543 CA371684754 |
46 | I>V | No |
ClinGen gnomAD |
|
|
rs778395188 CA4807416 |
48 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1225563620 CA371684704 |
53 | A>S | No |
ClinGen gnomAD |
|
|
CA4807412 rs755837440 |
55 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752588205 CA4807411 |
55 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866582977 CA181335896 |
56 | A>S | No |
ClinGen Ensembl |
|
|
CA371684683 rs369221222 |
57 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4807410 rs369221222 |
57 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs941834102 CA181335891 |
58 | S>N | No |
ClinGen Ensembl |
|
|
rs759904690 CA4807409 |
59 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199785570 CA4807408 |
59 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371684668 rs199785570 |
59 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1370366416 CA371684658 |
61 | G>A | No |
ClinGen gnomAD |
|
|
rs1165727009 CA371684650 |
62 | G>E | No |
ClinGen gnomAD |
|
|
rs1586313372 CA371684596 |
70 | E>G | No |
ClinGen Ensembl |
|
|
CA181335880 rs780175247 |
71 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 71 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 73 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748445071 CA371684551 |
76 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 81 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249500010 CA371684509 |
82 | T>P | No |
ClinGen TOPMed |
|
|
rs1260379356 CA371684502 |
83 | I>T | No |
ClinGen gnomAD |
|
|
rs183988146 CA4807402 |
83 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1421588293 CA371684469 COSM1102469 |
87 | R>I | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs201266850 CA4807400 |
90 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4807399 rs192829492 |
90 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA371684450 rs192829492 |
90 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371684444 rs1379883691 |
91 | V>A | No |
ClinGen TOPMed |
|
|
CA371684434 rs1272242292 |
93 | R>K | No |
ClinGen gnomAD |
|
|
rs756795147 CA4807398 |
95 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569412856 CA4807397 |
95 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA371684408 rs1244146264 |
97 | G>E | No |
ClinGen gnomAD |
|
|
rs1353661359 CA371684398 |
99 | G>E | No |
ClinGen gnomAD |
|
|
rs756136519 CA4807395 |
101 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs752432118 CA4807394 |
102 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs990728066 CA181335853 |
103 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1407478522 CA371684375 |
103 | V>G | No |
ClinGen gnomAD |
|
|
CA371684379 rs990728066 |
103 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs781046465 CA4807393 |
105 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1334655096 CA371684351 |
107 | S>C | No |
ClinGen gnomAD |
|
|
CA181335845 rs758511991 |
107 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs201524055 CA4807391 |
108 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1001888276 CA181335839 |
109 | F>L | No |
ClinGen Ensembl |
|
|
CA4807390 rs766745992 |
111 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371684324 rs766745992 |
111 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763101273 CA371684309 |
114 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs763101273 CA4807389 |
114 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1024586905 CA181335832 |
115 | E>V | No |
ClinGen Ensembl |
|
|
CA4807388 rs750572461 |
116 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244509980 CA371684284 |
117 | A>G | No |
ClinGen Ensembl |
|
|
rs1332784192 CA371684286 |
117 | A>S | No |
ClinGen TOPMed |
|
|
rs765654870 CA4807387 |
118 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807385 rs776798320 |
119 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1268250545 CA371684273 |
119 | N>T | No |
ClinGen gnomAD |
|
|
rs762382918 CA4807386 |
119 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs372272143 CA4807383 |
121 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372272143 CA4807384 |
121 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4807382 rs773965515 |
122 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770621355 CA371684249 |
123 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs770621355 CA4807381 |
123 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4807379 rs777409500 |
124 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4807380 rs529324614 |
124 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA181335801 rs1036257869 |
125 | S>L | No |
ClinGen Ensembl |
|
|
CA4807378 rs750412900 |
125 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807377 rs147043331 |
126 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1269490039 CA371684229 |
127 | N>S | No |
ClinGen TOPMed |
|
|
rs1356362039 CA371684224 |
128 | Q>E | No |
ClinGen Ensembl |
|
|
rs374746066 CA181335794 COSM1102468 |
128 | Q>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs372114152 CA4807376 |
135 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181335787 rs1050523629 |
137 | T>I | No |
ClinGen Ensembl |
|
|
rs751448377 CA4807374 |
139 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 139 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780408026 CA4807373 |
140 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758757472 CA4807372 |
141 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs932051445 CA181335781 |
141 | N>S | No |
ClinGen Ensembl |
|
|
CA4807371 rs540544940 |
143 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4807370 rs371601482 |
144 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371684112 rs1376890013 |
145 | R>I | No |
ClinGen gnomAD |
|
|
CA371684103 rs1415336223 |
146 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1293732255 CA371684105 |
146 | K>R | No |
ClinGen TOPMed |
|
|
CA371684098 rs1586313035 |
147 | T>R | No |
ClinGen Ensembl |
|
|
rs762173553 CA4807369 |
149 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs754405040 CA4807368 |
150 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761009205 CA4807366 |
153 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1464545444 CA371684063 |
153 | E>K | No |
ClinGen gnomAD |
|
|
CA371684053 rs1221438236 |
154 | N>S | No |
ClinGen gnomAD |
|
|
rs1220239251 CA371684043 |
155 | P>R | No |
ClinGen TOPMed |
|
|
rs775892927 CA4807365 |
158 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs762673150 CA4807363 |
160 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA371683976 rs1320886068 |
166 | V>E | No |
ClinGen gnomAD |
|
|
rs1372154752 CA371683954 |
169 | D>G | No |
ClinGen gnomAD |
|
|
CA4807360 rs747651584 |
170 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807359 rs375093167 |
172 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs544043165 CA4807358 |
172 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs544043165 CA4807357 |
172 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1171490291 CA371683929 |
173 | V>A | No |
ClinGen gnomAD |
|
|
rs778822708 CA4807353 |
178 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4807351 rs555466677 |
180 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1278582921 CA371683871 |
182 | G>R | No |
ClinGen gnomAD |
|
|
rs756681421 CA4807349 |
183 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs541542652 CA4807348 |
189 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762465540 CA4807346 |
191 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs764847224 COSM454952 CA4807344 |
192 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4807343 rs761371482 |
192 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4807342 rs776345526 |
193 | N>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 194 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4807340 rs746953500 |
197 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs775372843 CA4807339 |
198 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4807338 rs376017277 |
201 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371683734 rs1183638759 |
202 | A>V | No |
ClinGen gnomAD |
|
|
rs1257364212 CA371683709 |
206 | D>G | No |
ClinGen gnomAD |
|
|
rs1563662857 CA371683705 |
207 | A>T | No |
ClinGen Ensembl |
|
|
CA371683694 rs1186433342 |
208 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 211 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA181335696 rs969117224 |
218 | M>L | No |
ClinGen Ensembl |
|
| TCGA novel | 221 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4807335 rs371273529 |
223 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373418458 CA4807332 |
242 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373418458 CA4807333 |
242 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1228381230 CA371683454 |
242 | K>R | No |
ClinGen gnomAD |
|
|
rs753226077 CA4807331 |
244 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767007674 CA181335671 |
245 | D>G | No |
ClinGen gnomAD |
|
|
rs370725627 CA4807329 |
245 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 246 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373594375 CA181335665 |
246 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA371683423 rs1468445060 |
247 | L>H | No |
ClinGen gnomAD |
|
|
CA371683418 rs1286772723 COSM138686 |
248 | R>K | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs17853906 CA4807326 |
250 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs17853906 VAR_047291 CA181335662 |
250 | S>F | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA4807325 rs761374053 |
252 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371683394 rs761374053 |
252 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371683384 rs1417289964 |
253 | H>P | No |
ClinGen gnomAD |
|
|
CA371683380 rs1257427162 |
253 | H>Q | No |
ClinGen TOPMed |
|
|
rs1405964331 CA371683387 |
253 | H>Y | No |
ClinGen gnomAD |
|
|
CA371683374 rs1230402595 |
254 | S>F | No |
ClinGen gnomAD |
|
|
rs1006118331 CA181335654 |
255 | P>S | No |
ClinGen gnomAD |
|
|
rs763716003 CA4807323 |
256 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA371683350 rs1221851348 |
259 | I>V | No |
ClinGen gnomAD |
|
|
rs369488679 CA4807320 |
261 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA181335642 rs1050243917 |
262 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4807319 rs745665846 |
262 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA371683306 rs1225295905 |
265 | R>* | No |
ClinGen gnomAD |
|
|
CA4807318 rs774083454 |
265 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771119080 CA4807317 |
266 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs777782711 CA4807315 |
267 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777782711 CA371683294 |
267 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377370983 CA4807316 |
267 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781223536 CA4807314 |
268 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807312 rs781715151 |
271 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181335625 rs930686844 |
271 | K>I | No |
ClinGen TOPMed |
|
|
rs755501452 CA4807311 |
272 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 273 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751883399 CA4807310 |
273 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4807309 rs780292168 |
275 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs756918802 CA4807308 |
277 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1102465 rs1210046816 CA371683235 |
277 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4807307 rs753571911 |
279 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753571911 CA371683227 |
279 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807306 COSM1102464 rs201307950 |
279 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760243882 CA4807305 |
284 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs571926374 CA4807304 |
285 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs927513624 CA181335606 |
285 | Y>D | No |
ClinGen gnomAD |
|
|
CA371683193 rs927513624 |
285 | Y>H | No |
ClinGen gnomAD |
|
|
CA4807302 rs759400089 |
286 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4807303 rs767487501 |
286 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs971513049 CA181335598 |
287 | H>R | No |
ClinGen TOPMed |
|
|
rs1301598139 CA371683162 |
289 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4807299 rs199743134 |
295 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA181335577 rs770932742 |
297 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4807297 rs770059077 |
297 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA181335574 rs770932742 |
297 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs748219683 CA4807296 |
299 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA371683079 rs1178119040 |
302 | N>Y | No |
ClinGen TOPMed |
|
|
CA371683054 rs1190119949 |
305 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 308 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781134315 CA4807295 |
308 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781134315 CA371683037 |
308 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181335558 rs1006585234 |
312 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452589559 CA371682992 |
314 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs758487985 CA181335553 |
316 | F>L | No |
ClinGen gnomAD |
|
|
rs1272537728 CA371682949 |
320 | D>G | No |
ClinGen gnomAD |
|
|
rs747490318 CA4807293 |
323 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1345487622 CA371682918 |
324 | T>I | No |
ClinGen gnomAD |
|
|
rs1344624696 CA371682894 |
328 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754998885 CA181335539 |
330 | M>I | No |
ClinGen Ensembl |
|
|
rs1294914096 CA371682878 |
330 | M>T | No |
ClinGen gnomAD |
|
|
CA4807291 rs758800512 |
331 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371682866 rs1368943446 |
332 | K>E | No |
ClinGen TOPMed |
|
|
CA181335534 rs996029713 |
333 | T>S | No |
ClinGen TOPMed |
|
|
CA4807290 rs201621052 |
335 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807289 rs200320187 |
335 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434423141 CA371682840 |
336 | D>A | No |
ClinGen gnomAD |
|
|
rs752187603 CA4807287 |
337 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA181335523 COSM1102463 rs1050119972 |
340 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA371682809 rs1190393661 |
341 | L>M | No |
ClinGen gnomAD |
|
|
rs375172390 CA4807285 |
344 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773057715 CA4807282 |
351 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773057715 CA4807281 |
351 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371682714 rs1464921276 |
355 | I>V | No |
ClinGen TOPMed |
|
|
rs776721398 CA4807278 |
357 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs201840180 CA4807277 |
358 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372709313 CA4807276 |
359 | S>A | No |
ClinGen ESP ExAC |
|
|
CA181335500 rs982348733 |
360 | R>G | No |
ClinGen TOPMed |
|
|
CA4807275 rs775834600 |
361 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 362 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4807273 rs746234040 CA371682657 |
363 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4807272 rs188026809 |
365 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1350580365 CA371682643 |
366 | F>I | No |
ClinGen TOPMed |
|
|
rs970700951 CA181335486 |
367 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs527810504 CA4807270 |
368 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371682624 rs1164069974 |
369 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4807269 rs566862215 |
369 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766298163 CA4807266 |
371 | E>A | No |
ClinGen ExAC gnomAD |
|
| rs764449240 | 373 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs546549898 CA181335470 |
374 | R>K | No |
ClinGen 1000Genomes |
|
|
rs1489479116 CA371682573 |
376 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs111589624 CA4807262 |
381 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4807261 rs762052068 |
382 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411257614 CA371682535 |
382 | R>T | No |
ClinGen gnomAD |
|
|
CA181335459 rs994926635 |
383 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1370791509 CA371682527 |
383 | P>L | No |
ClinGen gnomAD |
|
|
CA371682531 rs994926635 |
383 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs201604523 CA4807259 |
384 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371682520 rs1563662021 |
385 | H>D | No |
ClinGen Ensembl |
|
|
rs775709135 CA4807257 |
385 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371682508 rs1193477568 |
387 | S>T | No |
ClinGen gnomAD |
|
|
CA4807255 rs774808381 |
388 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807254 rs774808381 |
388 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807253 rs771454527 |
389 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807252 rs749703724 |
390 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807251 rs769573148 |
391 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1469374922 CA371682479 |
391 | S>F | No |
ClinGen gnomAD |
|
|
CA4807250 rs769573148 |
391 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA181335433 rs779552260 |
392 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807248 rs779552260 |
392 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750388533 CA4807246 |
393 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs758281349 CA4807247 |
393 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA181335425 rs890602578 |
395 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs756978342 CA4807244 |
395 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA371682450 rs1300556919 |
396 | S>C | No |
ClinGen TOPMed |
|
|
CA371682446 rs1206274973 |
397 | G>S | No |
ClinGen gnomAD |
|
|
CA4807242 rs764220593 |
398 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764220593 CA4807243 |
398 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807241 rs760957939 |
400 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760080537 CA4807238 |
402 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760080537 CA4807239 |
402 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774967904 CA4807237 |
404 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM284498 CA371682393 rs1390207061 |
405 | R>I | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA371682369 rs1318841463 |
408 | P>L | No |
ClinGen gnomAD |
|
|
CA371682359 rs1484128154 |
410 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1586311958 CA371682342 |
412 | T>R | No |
ClinGen Ensembl |
|
|
rs1265241253 CA371682330 |
414 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 416 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4807234 rs773629831 |
418 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763215660 CA4807235 |
418 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs768134161 CA4807233 |
419 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371682261 rs1193248387 |
424 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 424 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371682259 rs1193248387 |
424 | L>V | No |
ClinGen gnomAD |
|
|
rs1243938318 CA371682253 |
425 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA371682254 rs1243938318 |
425 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4807231 rs779496587 |
426 | A>P | No |
ClinGen ExAC |
|
|
rs745428640 CA4807229 |
428 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA4807230 rs771535118 |
428 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA371682199 rs1586311882 |
433 | L>V | No |
ClinGen Ensembl |
|
|
rs1231659358 CA371682179 |
435 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1279079446 CA371682182 |
435 | D>G | No |
ClinGen gnomAD |
|
|
rs1366980481 CA371682173 |
436 | D>V | No |
ClinGen gnomAD |
|
|
rs1429503603 CA371682165 |
437 | K>I | No |
ClinGen gnomAD |
|
|
rs757288934 CA4807227 |
438 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371682155 COSM3952057 rs1336106553 |
439 | V>F | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1435031127 CA371682137 |
442 | G>E | No |
ClinGen gnomAD |
|
|
CA4807225 rs777641082 |
449 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA181335377 rs377019938 |
451 | E>V | No |
ClinGen ESP TOPMed |
|
|
CA371682061 rs1421964939 |
453 | Q>* | No |
ClinGen gnomAD |
|
|
CA371682052 rs1563661779 |
454 | A>V | No |
ClinGen Ensembl |
|
|
CA371682045 rs752999970 |
455 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752999970 CA4807223 |
455 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371682048 rs1168563515 COSM1458653 |
455 | M>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA181335373 rs907583672 |
456 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 458 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767892135 CA4807222 |
459 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767892135 CA181335370 |
459 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807221 rs373893335 |
459 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs751749362 CA4807220 |
462 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766728294 CA371682001 |
462 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807219 rs766728294 |
462 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs183336853 CA181335361 |
463 | R>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4807218 rs370751331 |
463 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA181335355 rs1028929596 |
464 | R>K | No |
ClinGen Ensembl |
|
|
TCGA novel rs775097249 CA4807214 |
467 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA371681967 rs1415350047 |
468 | T>I | No |
ClinGen gnomAD |
|
|
rs745375289 CA4807212 |
469 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA371681928 rs1586311732 |
474 | L>P | No |
ClinGen Ensembl |
|
|
rs1409379346 CA371681921 |
475 | I>M | No |
ClinGen gnomAD |
|
|
CA4807209 rs749274384 |
475 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371681903 rs1167665214 |
478 | A>G | No |
ClinGen gnomAD |
|
|
rs550448005 CA4807208 |
478 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752589107 CA4807206 |
479 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376514383 CA4807205 |
481 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA181335325 rs994824906 |
484 | G>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 486 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4807204 rs755320655 |
486 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807203 rs751630925 COSM1553407 |
488 | S>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1274485483 CA371681810 |
492 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1015438743 CA181335319 |
494 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 494 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201159126 CA371681786 |
495 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201159126 CA4807202 |
495 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4807201 rs373486515 |
496 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs202226883 CA4807199 |
498 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4807198 rs758503396 |
498 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807197 rs777043643 |
500 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4807195 rs759202418 COSM354663 |
502 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA371681744 rs759202418 |
502 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807194 rs773688979 |
502 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs759202418 CA371681745 |
502 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807193 rs371589399 |
503 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1394321585 COSM1263901 CA371681733 |
504 | R>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4807192 rs373549575 |
504 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4807190 rs769912425 |
505 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA371681727 rs769912425 |
505 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4807188 rs747954602 |
506 | D>E | No |
ClinGen ExAC TOPMed |
|
|
CA371681681 rs1254564358 |
512 | D>N | No |
ClinGen gnomAD |
|
|
rs747265896 CA4807184 |
514 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586311537 CA371681655 |
515 | D>A | No |
ClinGen Ensembl |
|
|
CA371681653 rs1180613904 |
515 | D>E | No |
ClinGen TOPMed |
|
|
rs1271116215 CA371681647 |
516 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371681641 rs1217898681 |
517 | P>L | No |
ClinGen gnomAD |
|
|
CA181335278 rs199929518 |
518 | I>M | No |
ClinGen 1000Genomes |
|
|
rs1432634641 CA371681640 |
518 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs780178577 CA4807183 |
519 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 521 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4807180 rs765766943 |
521 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4807181 rs765766943 |
521 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA371681616 rs1554611113 |
522 | G>C | No |
ClinGen Ensembl |
|
|
CA4807178 rs1554611113 |
522 | G>S | No |
ClinGen Ensembl |
|
|
CA181335265 rs1033486280 |
523 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs545854104 CA4807176 |
526 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4807175 rs202124697 |
527 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1455785687 CA371681569 |
529 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA371681570 rs1455785687 |
529 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA371681557 rs1346349485 |
530 | Q>L | No |
ClinGen gnomAD |
|
|
CA371681543 rs1399129033 |
532 | E>D | No |
ClinGen TOPMed |
|
|
rs1399376906 CA371681536 |
533 | D>E | No |
ClinGen gnomAD |
|
|
rs200620973 CA4807173 |
533 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765997756 CA4807172 |
534 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181335239 rs950300526 |
538 | D>E | No |
ClinGen Ensembl |
|
|
rs377069828 CA4807171 |
538 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4807170 CA371681488 rs772666570 |
540 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486134516 CA371681487 |
541 | K>E | No |
ClinGen gnomAD |
|
|
CA4807169 rs538507083 |
541 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4807166 rs372481108 |
543 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4807165 rs372481108 |
543 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776525440 CA4807168 |
543 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs776525440 CA4807167 |
543 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA181335219 rs916422189 |
544 | Q>H | No |
ClinGen TOPMed |
|
|
rs758611467 CA4807163 |
548 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807164 rs780304872 |
548 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807162 rs745891112 |
549 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA181335204 rs755496221 |
551 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA371681424 rs778875803 |
551 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807161 rs778875803 |
551 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757715187 CA4807160 |
552 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA371681406 rs1377680299 |
553 | H>Q | No |
ClinGen gnomAD |
|
|
CA4807159 rs754378044 |
553 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs972619339 CA181335197 |
554 | P>S | No |
ClinGen TOPMed |
|
|
CA4807158 rs368479776 |
555 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 555 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4807156 rs756448376 |
558 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371681375 rs756448376 |
558 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807155 rs560665909 |
559 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560665909 CA4807154 |
559 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762518980 CA4807153 |
562 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 563 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4807150 rs749897294 |
563 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371681340 rs1486501755 |
564 | D>A | No |
ClinGen gnomAD |
|
|
rs907636865 CA181335173 |
566 | R>K | No |
ClinGen TOPMed |
|
|
rs1257940212 CA371681326 |
566 | R>W | No |
ClinGen gnomAD |
|
|
rs1209945296 CA371681318 |
567 | F>S | No |
ClinGen gnomAD |
|
|
rs375969290 CA4807148 |
568 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4807146 rs150172581 |
569 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM198690 rs150172581 CA4807147 |
569 | P>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs921582792 CA181335163 |
572 | F>C | No |
ClinGen Ensembl |
|
|
CA181335160 rs866083199 |
573 | R>K | No |
ClinGen Ensembl |
|
|
rs1245648022 CA371681266 |
575 | S>P | No |
ClinGen TOPMed |
|
|
rs775149316 CA4807143 |
576 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 576 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772276076 CA4807142 |
577 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754379673 CA4807140 |
579 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868415252 CA181335146 |
580 | R>G | No |
ClinGen Ensembl |
|
|
rs749423709 CA4807139 |
581 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4807137 rs764615923 |
581 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA4807136 rs764615923 |
581 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
rs374369418 CA4807133 |
584 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371681210 rs374369418 |
584 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371681203 rs1462018466 |
585 | E>A | No |
ClinGen gnomAD |
|
|
CA4807132 rs753039953 |
586 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA181335126 rs201070043 |
587 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371681189 rs1167765707 |
587 | F>V | No |
ClinGen gnomAD |
|
|
CA4807129 rs750010787 |
589 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750010787 CA371681175 |
589 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750010787 CA371681176 |
589 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807130 rs758027143 |
589 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181335112 rs949198844 |
590 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs866623235 CA181335109 |
591 | S>F | No |
ClinGen Ensembl |
|
|
CA371681168 rs1351677210 |
591 | S>P | No |
ClinGen TOPMed |
|
|
CA371681156 rs1480970206 |
593 | E>K | No |
ClinGen gnomAD |
|
|
rs1216914807 CA371681144 |
594 | D>G | No |
ClinGen gnomAD |
|
|
CA371681148 rs1356419052 |
594 | D>N | No |
ClinGen TOPMed |
|
|
CA371681133 rs1208499117 |
595 | F>L | No |
ClinGen TOPMed |
|
|
CA181335104 rs1019236358 |
596 | R>T | No |
ClinGen TOPMed |
|
|
rs140808276 CA4807127 |
597 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM284497 rs200747716 CA4807126 |
597 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 598 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs550475279 CA181335081 |
599 | W>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA181335087 CA371681116 rs539476947 |
599 | W>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs570496559 CA181335084 |
599 | W>S | No |
ClinGen 1000Genomes |
|
|
rs1474310217 CA371681098 |
601 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs760540718 CA4807120 |
603 | F>L | No |
ClinGen ExAC TOPMed |
|
|
VAR_047292 rs17857188 CA4807119 |
605 | R>C | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs150994658 CA4807118 |
605 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1201208830 CA371681068 |
606 | P>S | No |
ClinGen Ensembl |
|
|
CA4807115 rs201265625 |
607 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA181335062 rs201265625 |
607 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371681059 rs201265625 |
607 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4807113 rs376275334 |
608 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371681030 rs1313211163 |
611 | F>L | No |
ClinGen TOPMed |
|
|
rs770279132 CA4807111 |
611 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA4807112 rs770279132 |
611 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4807110 rs748632742 |
612 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 612 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755275274 CA4807108 |
613 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1000218085 CA181335039 |
614 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1563660838 CA371681014 |
614 | P>S | No |
ClinGen Ensembl |
|
|
CA4807107 rs747435650 |
615 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA371681008 rs1238306886 |
615 | R>K | No |
ClinGen TOPMed |
|
|
CA4807106 rs528277998 |
617 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1424306997 CA371680979 |
619 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs753338487 CA4807104 |
620 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA371680965 rs1306649064 |
621 | R>M | No |
ClinGen gnomAD |
|
|
rs1442377824 CA371680961 |
621 | R>S | No |
ClinGen gnomAD |
|
|
rs1433562663 CA371680954 |
622 | P>L | No |
ClinGen TOPMed |
|
|
rs1325079037 CA371680932 |
625 | E>D | No |
ClinGen gnomAD |
|
|
CA4807102 rs756041789 |
626 | D>E | No |
ClinGen ExAC TOPMed |
|
|
rs1178275482 CA371680926 |
626 | D>V | No |
ClinGen TOPMed |
|
|
CA371680917 rs1387100314 |
627 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs752548858 CA4807100 |
627 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767544298 CA4807095 |
629 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559228137 CA4807096 |
629 | R>W | No |
ClinGen 1000Genomes TOPMed |
|
|
CA4807092 rs774198501 |
631 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs763176701 CA4807089 |
636 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs769729472 CA4807087 |
637 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807088 rs373301535 COSM1458648 |
637 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA371680847 rs1217680201 |
639 | P>S | No |
ClinGen TOPMed |
|
|
CA4807086 rs201885345 |
640 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1287031910 CA371680832 |
641 | E>D | No |
ClinGen gnomAD |
|
|
CA371680825 rs1299199947 |
642 | D>V | No |
ClinGen gnomAD |
|
|
rs1218658249 CA371680819 |
643 | F>Y | No |
ClinGen TOPMed |
|
|
rs1350412396 CA371680811 |
644 | R>T | No |
ClinGen gnomAD |
|
|
CA181334988 rs762946813 |
645 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA4807083 rs747306882 |
645 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA371680799 rs1236065791 |
646 | L>F | No |
ClinGen gnomAD |
|
|
CA4807081 rs756918636 |
647 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA371680790 rs1171731911 |
648 | E>K | No |
ClinGen TOPMed |
|
|
rs376147670 CA181334974 |
650 | D>N | No |
ClinGen ESP TOPMed |
|
|
rs879142977 CA181334970 |
653 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 653 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371680742 rs1350994628 |
654 | P>L | No |
ClinGen TOPMed |
|
|
CA181334966 rs755560213 |
654 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4807074 rs755560213 |
654 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA371680723 rs1296852462 |
657 | E>G | No |
ClinGen TOPMed |
|
|
CA4807073 rs752314115 |
657 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4807072 rs767352710 |
658 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1351804410 CA371680717 |
658 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs556017291 CA4807069 |
659 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371680710 rs1175336737 |
659 | L>S | No |
ClinGen gnomAD |
|
|
rs1436784228 CA371680706 |
660 | R>G | No |
ClinGen gnomAD |
|
|
rs1395995372 CA371680691 |
661 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1172058261 CA371680686 |
662 | L>P | No |
ClinGen gnomAD |
|
|
rs535724009 CA4807066 |
663 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373202459 CA4807067 |
663 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4807065 rs773399548 |
664 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 666 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4807064 rs765553433 |
668 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807062 rs369115962 |
669 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761795060 CA4807063 |
669 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768982647 CA4807061 |
670 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA181334939 rs1038719534 |
671 | P>A | No |
ClinGen Ensembl |
|
|
rs1270646805 CA371680629 |
672 | E>Q | No |
ClinGen gnomAD |
|
|
rs199963553 CA4807057 |
677 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807058 rs775955349 |
677 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371680585 rs1412791429 |
678 | P>S | No |
ClinGen gnomAD |
|
|
rs866481073 CA181334926 |
679 | P>L | No |
ClinGen Ensembl |
|
|
rs1426620830 COSM1553409 CA371680561 |
681 | E>D | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1168613799 CA371680568 |
681 | E>K | No |
ClinGen gnomAD |
|
|
CA4807056 rs746286966 |
682 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807055 rs777281214 |
683 | F>C | No |
ClinGen ExAC |
|
|
rs769560540 CA371680546 |
684 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200294553 CA371680537 |
685 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200294553 CA4807051 |
685 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747545527 CA4807052 |
685 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751530992 CA4807049 |
686 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1445416369 CA371680532 |
686 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4807048 rs780012583 COSM125785 |
687 | L>F | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA371680525 rs1194800832 |
688 | Q>E | No |
ClinGen gnomAD |
|
|
rs1382962355 CA371680521 |
688 | Q>L | No |
ClinGen TOPMed |
|
|
rs750295702 CA4807046 |
693 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761620409 CA4807044 |
693 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761620409 CA4807045 |
693 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807043 rs753811700 |
694 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4807042 rs573364944 |
695 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1356532447 CA371680476 |
696 | E>K | No |
ClinGen gnomAD |
|
|
rs1379472991 CA371680462 CA371680461 COSM1674009 |
697 | D>E | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA371680456 rs1398667234 |
698 | D>G | No |
ClinGen gnomAD |
|
|
rs1465220179 CA371680459 |
698 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs776253806 CA4807038 |
701 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4807039 rs776119332 |
701 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181334876 rs868274107 |
702 | P>L | No |
ClinGen Ensembl |
|
|
rs1470956306 CA371680424 |
703 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371680425 rs1470956306 |
703 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA371680428 rs1180520523 |
703 | P>S | No |
ClinGen gnomAD |
|
|
rs373825312 CA4807035 |
704 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1456075403 CA371680416 |
705 | E>Q | No |
ClinGen gnomAD |
|
|
rs1274932210 CA371680408 |
706 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs78827531 CA4807033 |
709 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs539511814 CA4807030 |
711 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371680353 rs1199605113 |
713 | E>D | No |
ClinGen TOPMed |
|
|
rs1342681394 CA371680358 |
713 | E>K | No |
ClinGen TOPMed |
|
|
CA371680342 rs1446042595 |
715 | F>L | No |
ClinGen gnomAD |
|
|
CA371680337 CA4807027 rs570533170 |
715 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1370121689 CA371680340 |
715 | F>Y | No |
ClinGen gnomAD |
|
|
CA4807025 rs750128424 |
717 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA371680322 rs1349876743 |
718 | S>P | No |
ClinGen gnomAD |
|
|
rs1184681721 CA371680315 |
719 | P>A | No |
ClinGen TOPMed |
|
|
CA371680311 rs1322446673 |
719 | P>L | No |
ClinGen Ensembl |
|
|
CA4807021 rs754057902 |
722 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807019 rs760826206 |
724 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807020 rs764462513 |
724 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760106376 CA4807016 |
725 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4807014 rs771360400 |
726 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM270008 rs774533933 CA4807015 |
726 | P>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA371680265 rs1391450861 |
727 | P>S | No |
ClinGen TOPMed |
|
|
CA181334816 rs867210430 |
728 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs867210430 CA371680257 |
728 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA371680230 rs1239669406 |
731 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4807011 rs772380709 |
732 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA181334811 rs772380709 |
732 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377086209 CA4807009 |
732 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377086209 CA4807010 |
732 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377086209 CA371680228 |
732 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772380709 CA371680229 |
732 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745848080 CA4807006 |
733 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778755168 CA4807005 |
733 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745848080 CA4807007 |
733 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA181334795 rs867767227 |
734 | P>S | No |
ClinGen Ensembl |
|
|
CA4807004 rs757052517 |
735 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA371680220 rs757052517 |
735 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA371680211 rs1168165704 |
736 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 737 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs996976691 CA181334779 |
738 | H>P | No |
ClinGen TOPMed |
|
| TCGA novel | 738 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4806997 rs372170893 |
740 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756409850 CA4806998 |
740 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767731937 CA4806995 |
743 | P>L | No |
ClinGen ExAC |
|
|
CA371680164 rs755402350 |
744 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4806994 rs755402350 |
744 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1397850650 CA371680147 |
746 | H>R | No |
ClinGen TOPMed |
|
|
CA371680127 rs1223967944 |
749 | R>Q | No |
ClinGen TOPMed |
|
|
CA4806989 rs752077182 |
749 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 750 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214266872 CA371680123 |
750 | P>T | No |
ClinGen gnomAD |
|
|
rs763369410 CA4806987 |
752 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763369410 COSM125784 CA371680112 |
752 | P>T | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1299760251 CA371680095 |
754 | H>R | No |
ClinGen gnomAD |
|
|
CA371680086 CA4806985 rs763674652 |
755 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4806986 rs773567130 |
755 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA4806984 rs374866853 |
756 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA181334743 rs533626649 |
756 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA4806982 rs771578770 |
757 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs774939808 CA4806983 |
757 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 759 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867740237 CA181334716 |
760 | P>Q | No |
ClinGen Ensembl |
|
|
CA181334719 rs865965464 |
760 | P>T | No |
ClinGen TOPMed |
|
|
CA371680053 rs1246729659 |
762 | H>Y | No |
ClinGen TOPMed |
|
|
rs777725062 CA4806973 |
764 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA181334701 rs772684843 |
765 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781607984 CA4806970 |
765 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772684843 CA4806971 |
765 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750733162 CA4806965 |
768 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA371680019 rs1586309821 |
768 | P>S | No |
ClinGen Ensembl |
|
|
CA371680014 rs1254294009 |
769 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 769 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 769 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371680002 rs1206794098 |
770 | H>R | No |
ClinGen gnomAD |
|
|
CA4806957 rs767131986 |
773 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs552325394 CA4806956 |
773 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA371679981 rs552325394 |
773 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767131986 CA4806958 |
773 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs770843253 CA4806954 |
774 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371679978 rs1348859167 |
774 | P>S | No |
ClinGen gnomAD |
|
|
CA371679973 rs1301329637 |
775 | P>S | No |
ClinGen TOPMed |
|
|
rs769684402 COSM1102457 CA4806951 |
776 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs769684402 CA4806950 |
776 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769684402 CA371679967 |
776 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA181334658 rs373937916 |
776 | P>T | No |
ClinGen ESP |
|
|
CA4806945 rs768761779 |
777 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4806947 rs370465990 |
777 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370465990 CA4806946 |
777 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1299373831 CA371679958 |
778 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs750898456 CA4806941 |
780 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368230663 CA4806942 |
780 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779443778 CA371679942 |
781 | R>G | No |
ClinGen ExAC TOPMed |
|
|
rs754269809 CA4806938 |
782 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462779139 CA371679928 |
783 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1203887035 CA371679921 |
784 | Q>P | No |
ClinGen TOPMed |
|
|
rs765841053 CA4806934 |
785 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1586309622 CA371679916 |
785 | E>K | No |
ClinGen Ensembl |
|
|
CA181334623 rs1004033113 |
786 | H>R | No |
ClinGen TOPMed |
|
|
rs1178962868 CA371679891 |
788 | R>T | No |
ClinGen gnomAD |
|
|
rs769912684 CA4806931 |
789 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769912684 CA4806930 |
789 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4806932 rs762596490 |
789 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371679884 rs1337644796 |
790 | P>A | No |
ClinGen gnomAD |
|
|
rs17853904 CA4806929 |
790 | P>L | Variant assessed as Somatic; 4.822e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs17853904 CA181334613 |
790 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs17853904 CA181334610 |
790 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371679883 rs1337644796 |
790 | P>S | No |
ClinGen gnomAD |
|
|
CA371679873 rs932536801 |
792 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs932536801 CA181334598 |
792 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1485159287 CA371679869 |
793 | E>K | No |
ClinGen gnomAD |
|
|
CA371679858 rs747222686 |
794 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1375551857 CA371679856 |
794 | H>Q | No |
ClinGen gnomAD |
|
|
CA4806926 rs747222686 |
794 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA371679848 rs1484516219 |
795 | F>L | No |
ClinGen gnomAD |
|
|
CA181334590 rs865954062 |
797 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4806924 rs562274116 |
797 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs542494476 CA4806922 |
798 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371679834 rs1456208915 |
798 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs754145288 CA4806919 |
799 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778021536 CA4806918 |
800 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371679816 rs1268683244 |
801 | E>G | No |
ClinGen gnomAD |
|
|
rs754623294 CA4806917 |
801 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 802 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751145471 CA4806916 |
802 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA371679798 rs1586309461 |
803 | F>L | No |
ClinGen Ensembl |
|
|
CA371679795 rs1354726237 |
804 | R>K | No |
ClinGen gnomAD |
|
|
CA371679788 rs1290626409 |
805 | H>Y | No |
ClinGen gnomAD |
|
|
rs1240396881 CA371679776 |
807 | P>T | No |
ClinGen gnomAD |
|
|
rs765206627 CA4806912 |
808 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA4806913 rs373148843 |
808 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs553121328 CA4806911 |
811 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1268000142 CA371679731 |
813 | G>D | No |
ClinGen TOPMed |
|
|
rs1189375122 CA371679733 |
813 | G>R | No |
ClinGen TOPMed |
|
|
rs776443945 CA4806910 |
814 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4806909 rs146661551 |
815 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371679674 rs1384822734 CA371679673 |
821 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs866058504 CA181334551 |
821 | H>R | No |
ClinGen Ensembl |
|
|
CA181334546 rs1009055899 |
822 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1298630697 CA371679666 |
823 | P>A | No |
ClinGen gnomAD |
|
|
CA371679643 rs1379989249 |
826 | D>N | No |
ClinGen gnomAD |
|
|
CA4806903 rs780613301 |
827 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs749310375 CA4806902 |
827 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371679622 rs1336996124 |
829 | S>C | No |
ClinGen TOPMed |
|
|
CA181334529 rs199858185 |
830 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA371679615 rs199858185 |
830 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA371679592 rs1273157476 |
833 | E>V | No |
ClinGen TOPMed |
|
|
rs1487748235 CA371679585 |
834 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371679564 rs1159634277 |
837 | C>S | No |
ClinGen gnomAD |
|
|
rs1235764453 CA371679553 |
838 | P>L | No |
ClinGen gnomAD |
|
|
rs771379502 CA371679529 |
841 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 842 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753565059 CA181334517 |
844 | R>G | No |
ClinGen Ensembl |
|
|
CA4806896 rs778387954 |
844 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs114314332 CA4806893 |
854 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA |
|
CA371679432 rs1416198793 |
855 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA181334498 rs904461526 |
856 | E>D | No |
ClinGen Ensembl |
|
|
rs113066818 CA181334496 |
857 | E>K | No |
ClinGen Ensembl |
|
|
CA4806891 rs753141114 |
859 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4806889 rs537095215 |
861 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753696690 CA4806888 |
863 | D>N | No |
ClinGen ExAC gnomAD |
|
|
VAR_052219 rs16916188 CA4806887 |
864 | N>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA371679369 rs1187303745 |
865 | F>Y | No |
ClinGen TOPMed |
|
|
CA181334480 rs373491241 |
867 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA371679355 rs1442690949 |
867 | P>R | No |
ClinGen gnomAD |
|
|
CA181334484 rs373491241 |
867 | P>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA371679344 rs1198296810 |
869 | G>D | No |
ClinGen gnomAD |
|
|
rs1403660421 CA371679341 |
870 | E>K | No |
ClinGen TOPMed |
|
|
CA371679327 rs1341370778 |
871 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 871 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278769403 CA371679325 |
872 | F>I | No |
ClinGen gnomAD |
|
|
CA371679315 rs1217747778 |
873 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4806886 rs760381253 |
874 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371679305 rs1294958350 |
874 | S>R | No |
ClinGen gnomAD |
|
|
CA4806884 COSM1458647 rs767670220 |
875 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4806885 rs775357947 |
875 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774374275 CA4806882 |
876 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1334428115 CA371679296 |
876 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs770968524 CA4806881 |
877 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749438737 CA4806880 |
879 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571335010 CA181334459 |
880 | R>G | No |
ClinGen Ensembl |
|
|
CA371679262 rs1341091146 |
881 | S>N | No |
ClinGen gnomAD |
|
|
CA371679260 rs1563658929 |
881 | S>R | No |
ClinGen Ensembl |
|
|
CA4806878 rs770401634 |
881 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs748400099 CA4806877 |
883 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1472919522 CA371679247 |
883 | R>H | Variant assessed as Somatic; 4.645e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA371679235 rs1184697639 |
885 | F>L | No |
ClinGen gnomAD |
|
|
CA181334448 rs908582908 |
885 | F>S | No |
ClinGen Ensembl |
|
|
CA371679227 rs1224605015 |
887 | N>H | No |
ClinGen TOPMed |
|
|
rs1281939805 CA371679218 |
888 | F>L | No |
ClinGen TOPMed |
|
|
CA181334447 rs983203792 |
889 | G>V | No |
ClinGen TOPMed |
|
|
COSM3382339 rs375518122 CA4806875 |
890 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs373712480 CA4806874 COSM284496 |
890 | R>H | Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373712480 CA371679203 |
890 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 892 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371679178 rs1197911808 |
894 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA371679167 rs1316036604 |
896 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 897 | D>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1274811273 CA371679141 |
899 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4806872 rs756708652 |
901 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA371679122 rs1283820138 |
902 | N>D | No |
ClinGen gnomAD |
|
|
rs376648806 CA4806870 |
904 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1384779582 CA371679098 |
905 | S>T | No |
ClinGen TOPMed |
|
|
CA181334429 rs903821824 |
906 | F>V | No |
ClinGen TOPMed |
|
|
CA371679081 rs1167332332 |
907 | P>L | No |
ClinGen gnomAD |
|
|
rs372294052 CA4806868 |
908 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371679068 rs1412572247 |
909 | G>V | No |
ClinGen gnomAD |
|
|
rs367561030 CA4806866 |
912 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4806865 rs751762234 |
914 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1449863751 CA371679022 |
916 | K>R | No |
ClinGen TOPMed |
|
|
CA181334416 rs964241184 |
918 | N>S | No |
ClinGen TOPMed |
|
|
rs374769005 CA4806864 |
919 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4806863 rs534891432 |
920 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1019792320 CA181334412 |
920 | G>S | No |
ClinGen Ensembl |
|
|
rs1248402059 CA371678989 |
921 | S>* | No |
ClinGen gnomAD |
|
|
rs371603503 CA371678980 |
923 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371678977 rs1349701323 |
923 | R>T | No |
ClinGen TOPMed |
|
|
rs770147705 CA4806861 |
924 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 928 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777314221 CA4806859 |
930 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA4806858 rs769116005 |
930 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1243865401 CA371678899 |
935 | K>Q | No |
ClinGen TOPMed |
|
|
CA371678881 rs1586308810 |
937 | N>S | No |
ClinGen Ensembl |
|
|
rs1180305566 CA371678877 |
938 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs191317987 CA4806856 |
946 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1160610822 CA371678805 |
947 | G>V | No |
ClinGen TOPMed |
|
|
rs1349641547 CA371678792 |
949 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1349641547 CA371678794 |
949 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA371678751 rs1228643104 |
955 | V>A | No |
ClinGen Ensembl |
|
|
CA4806853 rs374209317 |
955 | V>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs755966962 CA4806852 |
956 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA4806851 rs371306525 |
956 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1157471911 CA371678740 |
957 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 958 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs532338196 CA4806850 |
959 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs904177970 CA181334375 |
959 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4806849 rs754758718 |
960 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1488142972 CA371678703 |
962 | Q>H | No |
ClinGen gnomAD |
|
|
rs751424671 CA4806848 |
963 | G>R | No |
ClinGen ExAC |
|
|
CA371678693 rs948630764 |
964 | L>F | No |
ClinGen TOPMed |
|
|
CA181334366 rs974298743 |
964 | L>S | No |
ClinGen TOPMed |
|
|
rs766447854 CA4806847 |
967 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA371678671 rs1281118355 |
968 | E>G | No |
ClinGen TOPMed |
|
|
CA4806846 rs763256054 |
968 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 969 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371678658 rs1287026855 |
970 | I>T | No |
ClinGen gnomAD |
|
|
CA4806845 rs368394507 |
970 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371678637 rs1448144782 |
973 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA371678642 rs1215900742 |
973 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1325766316 CA371678628 |
974 | I>M | No |
ClinGen TOPMed |
|
|
rs765324794 CA4806844 |
977 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA371678589 rs1303561987 |
980 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1250464700 CA371678581 |
981 | A>T | No |
ClinGen TOPMed |
|
|
rs1220287321 CA371678571 |
982 | A>G | No |
ClinGen gnomAD |
|
|
CA4806843 rs761844314 |
984 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4806841 rs769353041 COSM263272 |
994 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4806840 rs761051839 |
996 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4806839 rs375433313 |
997 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4806836 rs749003712 |
1002 | L>Y | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q8IXT5
8 regional properties for Q8IXT5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RNA recognition motif domain | 4 - 72 | IPR000504-1 |
| domain | RNA recognition motif domain | 155 - 230 | IPR000504-2 |
| domain | RNA recognition motif domain | 284 - 360 | IPR000504-3 |
| domain | RNA recognition motif domain | 400 - 477 | IPR000504-4 |
| domain | RNA recognition motif domain | 925 - 1001 | IPR000504-5 |
| domain | RBM12B, RNA recognition motif 2 | 153 - 238 | IPR034588 |
| domain | RBM12B, RNA recognition motif 3 | 284 - 363 | IPR034858 |
| domain | RNA-binding protein 12B, RNA recognition motif 4 | 400 - 475 | IPR047188 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| regulation of RNA splicing | Any process that modulates the frequency, rate or extent of RNA splicing, the process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAVVIRLLGL | PFIAGPVDIR | HFFTGLTIPD | GGVHIIGGEI | GEAFIIFATD | EDARRAISRS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GGFIKDSSVE | LFLSSKAEMQ | KTIEMKRTDR | VGRGRPGSGT | SGVDSLSNFI | ESVKEEASNS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GYGSSINQDA | GFHTNGTGHG | NLRPRKTRPL | KAENPYLFLR | GLPYLVNEDD | VRVFFSGLCV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DGVIFLKHHD | GRNNGDAIVK | FASCVDASGG | LKCHRSFMGS | RFIEVMQGSE | QQWIEFGGNA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VKEGDVLRRS | EEHSPPRGIN | DRHFRKRSHS | KSPRRTRSRS | PLGFYVHLKN | LSLSIDERDL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RNFFRGTDLT | DEQIRFLYKD | ENRTRYAFVM | FKTLKDYNTA | LSLHKTVLQY | RPVHIDPISR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KQMLKFIARY | EKKRSGSLER | DRPGHVSQKY | SQEGNSGQKL | CIYIRNFPFD | VTKVEVQKFF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ADFLLAEDDI | YLLYDDKGVG | LGEALVKFKS | EEQAMKAERL | NRRRFLGTEV | LLRLISEAQI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QEFGVNFSVM | SSEKMQARSQ | SRERGDHSHL | FDSKDPPIYS | VGAFENFRHQ | LEDLRQLDNF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KHPQRDFRQP | DRHPPEDFRH | SSEDFRFPPE | DFRHSPEDFR | RPREEDFRRP | SEEDFRRPWE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EDFRRPPEDD | FRHPREEDWR | RPLEEDWRRP | LEEDFRRSPT | EDFRQLPEED | FRQPPEEDLR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| WLPEEDFRRP | PEEDWRRPPE | EDFRRPLQGE | WRRPPEDDFR | RPPEEDFRHS | PEEDFRQSPQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EHFRRPPQEH | FRRPPPEHFR | RPPPEHFRRP | PPEHFRRPPP | EHFRRPPPEH | FRRPPPEHFR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| RPPQEHFRRP | PQEHFRRSRE | EDFRHPPDED | FRGPPDEDFR | HPPDEDFRSP | QEEDFRCPSD |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EDFRQLPEED | LREAPEEDPR | LPDNFRPPGE | DFRSPPDDFR | SHRPFVNFGR | PEGGKFDFGK |
| 910 | 920 | 930 | 940 | 950 | 960 |
| HNMGSFPEGR | FMPDPKINCG | SGRVTPIKIM | NLPFKANVNE | ILDFFHGYRI | IPDSVSIQYN |
| 970 | 980 | 990 | 1000 | ||
| EQGLPTGEAI | VAMINYNEAM | AAIKDLNDRP | VGPRKVKLTL | L |