Q9H2U1
Gene name |
DHX36 |
Protein name |
ATP-dependent DNA/RNA helicase DHX36 |
Names |
DEAD/H box polypeptide 36, DEAH-box protein 36, G4-resolvase-1, G4R1, MLE-like protein 1, RNA helicase associated with AU-rich element protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:170506 |
EC number |
3.6.4.12: Acting on ATP; involved in cellular and subcellular movement |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for Q9H2U1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2N16 | NMR | - | A | 53-70 | PDB |
| 2N21 | NMR | - | A | 53-70 | PDB |
| 6Q6R | X-ray | 150 A | E/F/G/H | 53-81 | PDB |
| AF-Q9H2U1-F1 | Predicted | AlphaFoldDB |
660 variants for Q9H2U1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1440204061 CA355120834 |
2 | S>N | No |
ClinGen gnomAD |
|
|
rs370181315 CA2674428 |
3 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2674427 rs771686732 |
4 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170756954 CA355120811 |
5 | Y>C | No |
ClinGen gnomAD |
|
|
rs375589062 CA2674426 |
5 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372982076 CA2674424 |
6 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773934907 CA2674425 |
6 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2674423 rs748752789 |
7 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777707368 CA2674422 |
8 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756053986 CA2674421 CA355120790 |
8 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181666717 CA355120777 |
10 | G>D | No |
ClinGen gnomAD |
|
|
CA355120774 rs1576888682 |
11 | R>S | No |
ClinGen Ensembl |
|
|
rs1329511191 CA355120749 |
14 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel CA355120750 rs1329511191 |
14 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
CA2674420 rs747936122 |
16 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs745406144 CA2674419 |
16 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2674418 rs758611003 |
17 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355120735 rs758611003 |
17 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355120727 rs1272470194 |
18 | S>C | No |
ClinGen gnomAD |
|
|
CA355120730 rs1306010350 |
18 | S>P | No |
ClinGen gnomAD |
|
|
rs750691599 CA355120721 |
19 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1247186254 CA355120723 |
19 | G>S | No |
ClinGen gnomAD |
|
|
rs750691599 CA2674417 |
19 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1009578310 CA85784465 |
21 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs533475988 CA2674414 |
22 | Y>S | No |
ClinGen ExAC |
|
|
rs753922693 CA2674413 |
24 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2674412 rs764748750 |
25 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1306964560 CA355120687 |
25 | G>V | No |
ClinGen gnomAD |
|
|
rs759751451 CA2674407 |
26 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1559963470 CA355120684 |
26 | P>S | No |
ClinGen Ensembl |
|
|
CA2674406 rs774020317 |
27 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs770517246 CA2674405 |
28 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2674404 rs762496026 |
30 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479663687 CA355120653 |
31 | G>E | No |
ClinGen gnomAD |
|
|
CA355120655 rs1479663687 |
31 | G>V | No |
ClinGen gnomAD |
|
|
rs1576888584 CA355120650 |
32 | G>C | No |
ClinGen Ensembl |
|
|
rs772676265 CA2674403 |
34 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA355120631 rs1223494155 |
35 | G>A | No |
ClinGen gnomAD |
|
|
CA85784464 rs764811567 |
35 | G>S | No |
ClinGen Ensembl |
|
|
CA2674401 rs748106524 |
37 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA355120623 rs1290013457 |
37 | G>R | No |
ClinGen gnomAD |
|
|
CA2674397 rs576957075 |
44 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs576957075 CA355120579 |
44 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1370526043 CA355120580 |
44 | G>R | No |
ClinGen gnomAD |
|
|
rs576957075 CA355120578 |
44 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2674396 rs779300245 |
45 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 45 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376557871 CA2674395 |
46 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs558792451 CA2674393 |
47 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1345725102 CA355120556 |
49 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 49 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2674392 rs756088630 |
49 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1559963379 CA355120551 |
50 | R>W | No |
ClinGen Ensembl |
|
|
CA2674390 rs753252393 |
51 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2674389 rs376376653 |
52 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355120519 rs1486365314 |
55 | G>A | No |
ClinGen gnomAD |
|
|
CA355120522 rs200451346 CA2674387 |
55 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA355120506 rs1314660044 |
57 | L>R | No |
ClinGen gnomAD |
|
|
CA2674384 rs772770487 |
57 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA355120494 rs1200601058 |
59 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1223544645 CA355120482 |
61 | E>G | No |
ClinGen gnomAD |
|
|
rs769364061 CA2674383 |
61 | E>K | No |
ClinGen ExAC |
|
|
rs1159039437 CA355120467 |
63 | G>A | No |
ClinGen TOPMed |
|
|
rs1347047519 CA355120469 |
63 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA85784461 rs866694888 CA85784462 |
64 | M>I | No |
ClinGen TOPMed |
|
|
CA2674382 rs761165750 |
64 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA2674381 rs776661898 |
66 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA2674379 rs746851158 |
68 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1451511014 CA355120427 |
69 | K>T | No |
ClinGen gnomAD |
|
|
CA355120394 rs1427488260 |
73 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs199746825 CA2674375 |
74 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2674376 rs749533653 |
74 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs756248849 CA2674374 |
75 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs767557562 CA2674373 |
76 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185343876 CA355120368 |
77 | A>G | No |
ClinGen gnomAD |
|
|
CA2674371 rs187165766 |
79 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1259848519 CA355120351 |
80 | Q>E | No |
ClinGen Ensembl |
|
|
CA2674343 rs760194903 |
84 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1429562996 CA355120291 |
86 | H>Q | No |
ClinGen gnomAD |
|
|
rs1386248260 CA355120284 |
87 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 87 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201423228 CA2674342 |
88 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375298743 CA2674341 |
90 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA85783560 rs954292951 |
90 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA355120262 rs1186267485 |
91 | R>* | No |
ClinGen gnomAD |
|
|
rs759420266 CA2674340 |
91 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770117599 CA2674338 |
93 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA2674339 rs773983100 |
93 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748303595 CA2674337 |
94 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 95 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs976806523 CA85783559 |
95 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 96 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355120226 rs1481761535 |
97 | Q>E | No |
ClinGen TOPMed |
|
|
CA2674334 rs747055754 |
97 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs967186926 CA85783557 |
98 | L>S | No |
ClinGen Ensembl |
|
|
rs780565013 CA2674333 |
99 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs758881420 CA2674332 |
101 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2674331 rs746285368 |
104 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2674330 rs372294393 |
104 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA85783556 rs142405159 |
105 | K>R | No |
ClinGen ESP TOPMed |
|
|
CA355120170 rs1390675087 |
106 | N>D | No |
ClinGen gnomAD |
|
|
CA355120156 rs1159630633 |
107 | D>E | No |
ClinGen gnomAD |
|
|
rs1412003608 CA355120161 |
107 | D>Y | No |
ClinGen TOPMed |
|
|
rs572056315 CA2674327 |
110 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1164733878 CA355120139 |
110 | S>A | No |
ClinGen TOPMed |
|
|
rs572056315 CA355120135 |
110 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355120128 rs1472066814 |
111 | E>D | No |
ClinGen gnomAD |
|
|
rs1022716866 CA85783555 |
113 | Q>R | No |
ClinGen TOPMed |
|
|
rs777526815 CA2674326 |
114 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1449604463 CA355120104 |
115 | S>Y | No |
ClinGen gnomAD |
|
|
rs755707305 CA2674325 |
116 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs369663360 CA2674324 |
117 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2674323 rs767599231 |
118 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759383912 CA2674322 |
119 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355120071 rs1381688056 |
120 | E>V | No |
ClinGen TOPMed |
|
|
CA2674321 rs377209125 |
122 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2674320 rs766104286 |
123 | G>E | No |
ClinGen ExAC TOPMed |
|
|
CA2674294 rs138481688 |
124 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1412418114 CA355120017 |
127 | E>K | No |
ClinGen gnomAD |
|
|
rs374481403 CA2674292 |
130 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2674291 rs759618376 |
130 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1454421554 CA355119981 |
132 | N>S | No |
ClinGen TOPMed |
|
|
rs774738637 CA2674290 |
133 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355119972 rs1388301072 |
134 | P>T | No |
ClinGen gnomAD |
|
|
CA2674289 rs771442180 |
135 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2674288 rs749710536 |
137 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355119934 rs1404600321 |
139 | K>R | No |
ClinGen TOPMed |
|
|
rs1225542681 CA355119926 |
140 | L>P | No |
ClinGen gnomAD |
|
|
CA355119915 rs1284140683 |
142 | I>V | No |
ClinGen TOPMed |
|
|
rs566031900 CA2674286 |
143 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355119896 rs1559959785 |
144 | E>D | No |
ClinGen Ensembl |
|
|
CA355119898 rs1221856437 |
144 | E>G | No |
ClinGen TOPMed |
|
|
rs1221856437 CA355119897 |
144 | E>V | No |
ClinGen TOPMed |
|
|
rs1306274182 CA355119893 |
145 | K>E | No |
ClinGen TOPMed |
|
|
rs747815107 COSM1040209 CA2674285 |
145 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs945630937 CA355119874 |
147 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA355119869 rs1234893253 |
148 | I>K | No |
ClinGen gnomAD |
|
|
rs367855835 CA2674283 |
148 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 149 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304088085 CA355119860 |
149 | N>K | No |
ClinGen gnomAD |
|
|
rs1445125300 CA355119857 |
150 | Q>E | No |
ClinGen gnomAD |
|
|
rs1445125300 CA355119858 |
150 | Q>K | No |
ClinGen gnomAD |
|
|
rs879119392 CA85783470 |
150 | Q>P | No |
ClinGen gnomAD |
|
|
CA85783469 rs879119392 |
150 | Q>R | No |
ClinGen gnomAD |
|
|
rs779905545 CA2674281 |
151 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1058299 VAR_027140 CA2674282 |
151 | E>K | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA355119843 rs1319877362 |
152 | K>T | No |
ClinGen gnomAD |
|
|
CA85783468 rs923207712 |
153 | K>N | No |
ClinGen TOPMed |
|
| rs373108427 | 154 | M>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2674280 rs758329623 |
154 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1393934825 CA355119817 |
155 | F>L | No |
ClinGen gnomAD |
|
|
CA2674277 rs750288689 |
156 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA355119797 rs1445178962 |
156 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1053785889 CA85783467 |
160 | R>G | No |
ClinGen Ensembl |
|
|
CA2674276 rs756991329 |
160 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2674274 rs752946103 |
161 | S>T | No |
ClinGen ExAC TOPMed |
|
|
rs746768660 CA85783466 |
162 | Y>C | No |
ClinGen Ensembl |
|
|
CA85783465 rs1015561990 |
163 | I>V | No |
ClinGen TOPMed |
|
|
rs766862291 CA2674270 |
165 | R>Q | No |
ClinGen ExAC |
|
|
CA355119669 rs1482315163 |
166 | D>V | No |
ClinGen gnomAD |
|
|
CA2674269 rs763540594 |
167 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1383483307 CA355119363 |
172 | Q>P | No |
ClinGen TOPMed |
|
|
CA2674267 rs770285464 |
173 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs748486094 CA2674266 |
175 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA355119342 rs1559959675 |
175 | E>K | No |
ClinGen Ensembl |
|
|
rs1424065620 CA355119336 |
176 | P>S | No |
ClinGen TOPMed |
|
|
CA355119327 rs1226167723 |
177 | D>G | No |
ClinGen gnomAD |
|
|
CA355119325 rs1226167723 |
177 | D>V | No |
ClinGen gnomAD |
|
|
rs1559959664 CA355119316 |
179 | T>P | No |
ClinGen Ensembl |
|
|
rs776171731 CA2674265 |
180 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768333798 CA2674264 |
184 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746541770 CA2674263 |
185 | L>W | No |
ClinGen ExAC |
|
|
CA355119267 rs1368257371 |
186 | E>K | No |
ClinGen gnomAD |
|
|
CA2674262 rs779616243 |
188 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355119234 rs1351565397 |
189 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 193 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61757215 CA2674259 CA2674260 |
194 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1408797895 CA355119152 |
194 | D>G | No |
ClinGen gnomAD |
|
|
CA355119145 rs1471738542 |
195 | L>F | No |
ClinGen gnomAD |
|
|
CA355119135 rs757064717 |
196 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1420116 rs370724025 CA2674257 |
196 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM23511 rs757064717 CA2674258 |
196 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs571544760 CA2674255 |
199 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355119105 rs1221472102 |
199 | E>Q | No |
ClinGen gnomAD |
|
|
rs970803871 CA85783463 |
200 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA85783099 rs963787216 |
202 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs770821327 CA2674239 |
205 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2674238 rs749100005 |
207 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2674237 rs777610388 COSM1040207 |
209 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2674236 rs755806882 |
210 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355118226 rs1416615950 |
212 | M>I | No |
ClinGen TOPMed |
|
|
CA355118223 rs1293330018 |
213 | Q>* | No |
ClinGen TOPMed |
|
|
rs1337710062 CA355118221 |
213 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA355118196 rs1576877593 |
215 | E>K | No |
ClinGen Ensembl |
|
|
rs760885157 CA2674220 |
218 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA85782900 rs896783106 |
220 | I>T | No |
ClinGen TOPMed |
|
|
CA2674219 rs775242605 |
220 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs565024141 CA2674218 |
222 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2674217 rs759083962 |
224 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149886314 CA2674214 |
226 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2674213 rs777503457 |
228 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2674212 rs769660438 |
229 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs747851403 CA2674211 |
229 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs193282907 CA2674209 |
231 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355118074 rs1227183820 |
233 | G>A | No |
ClinGen TOPMed |
|
|
CA355118078 rs1410646805 |
233 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 233 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866037055 CA85782897 |
235 | G>D | No |
ClinGen Ensembl |
|
|
CA2674208 rs758663359 |
246 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs750597793 CA2674207 |
248 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2674206 rs779126431 |
249 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs764470095 CA2674203 |
258 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355117899 rs761148618 |
259 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355117897 rs1231169493 |
259 | I>T | No |
ClinGen gnomAD |
|
|
CA2674202 rs761148618 |
259 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85782896 rs917090818 |
260 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs188272051 CA85782895 |
262 | T>P | No |
ClinGen 1000Genomes |
|
|
CA2674200 rs767220511 |
266 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2674183 rs778381631 |
272 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355117354 rs778381631 |
272 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756572280 CA2674182 |
273 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA355117336 rs1297009891 |
273 | A>V | No |
ClinGen gnomAD |
|
|
CA355117329 rs1332804295 |
274 | E>G | No |
ClinGen TOPMed |
|
|
rs560624516 CA2674179 |
278 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751242466 CA2674178 |
280 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA2674176 rs762575010 |
282 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs545178351 CA2674174 |
283 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1399763825 CA355117218 |
284 | C>F | No |
ClinGen gnomAD |
|
|
rs200760394 CA85782519 |
286 | S>R | No |
ClinGen Ensembl |
|
|
CA2674172 rs776656161 |
288 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs761644070 CA2674173 |
288 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs768580381 CA2674171 |
290 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2674169 rs774740694 |
294 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA355117144 rs1466359277 |
295 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771024580 CA2674168 |
298 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs189057829 CA2674153 |
299 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761343968 CA2674154 |
299 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs764076484 CA2674152 |
302 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA2674151 rs760599389 |
303 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA355117078 rs1279467174 |
304 | Q>K | No |
ClinGen TOPMed |
|
|
CA85782402 rs899176569 |
304 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA355117072 rs1207652992 |
305 | G>S | No |
ClinGen gnomAD |
|
|
CA355117062 rs1265052384 |
306 | S>C | No |
ClinGen Ensembl |
|
|
CA85782401 rs1037895319 |
307 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1274484799 CA355117046 |
309 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs771239703 CA2674149 |
312 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1305700904 CA355116980 |
318 | W>* | No |
ClinGen gnomAD |
|
|
CA355116959 rs1308443938 |
321 | S>L | No |
ClinGen gnomAD |
|
|
rs769794924 CA2674146 |
321 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2674145 rs375675104 |
322 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781700028 CA2674144 |
323 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2674127 rs769979088 |
324 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1235949164 CA355116912 |
327 | S>G | No |
ClinGen TOPMed |
|
|
CA2674125 rs776689416 |
329 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2674124 rs371491624 |
331 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459672619 CA355116879 |
332 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA85782395 rs867608114 |
335 | E>* | No |
ClinGen Ensembl |
|
|
CA85782394 rs536261791 |
344 | D>G | No |
ClinGen gnomAD |
|
|
CA355116773 rs1467614875 |
347 | M>V | No |
ClinGen gnomAD |
|
|
rs557690427 CA85782393 |
348 | T>A | No |
ClinGen 1000Genomes gnomAD |
|
|
rs780544054 CA2674122 |
349 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA355127321 rs1326571872 |
352 | D>G | No |
ClinGen gnomAD |
|
|
CA85782391 rs3172334 |
354 | L>I | No |
ClinGen Ensembl |
|
|
CA2674120 rs772357295 |
355 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219544180 CA355127302 |
355 | N>S | No |
ClinGen gnomAD |
|
|
rs746199451 COSM1566636 CA2674119 |
357 | R>* | large_intestine Variant assessed as Somatic; 4.64e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2674118 rs151135113 |
357 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs753453392 CA2674116 |
362 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2674114 rs142114460 |
363 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1419677023 CA355127243 |
364 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767440112 CA2674112 |
364 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355127246 rs1387383019 |
364 | L>S | No |
ClinGen TOPMed |
|
|
rs1484707168 CA355127183 |
373 | K>E | No |
ClinGen gnomAD |
|
|
rs762011011 CA2674108 |
376 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs991112283 CA85782389 |
378 | F>L | No |
ClinGen Ensembl |
|
|
rs1372997889 CA355127118 |
380 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2674094 rs781031768 |
381 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2674093 rs754937391 |
383 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA355127089 rs1299934150 |
384 | I>T | No |
ClinGen TOPMed |
|
|
CA2674092 rs139842779 |
385 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355127074 rs1324648858 |
386 | I>M | No |
ClinGen gnomAD |
|
|
rs766175399 CA2674091 |
386 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1425220907 CA355127077 |
386 | I>V | No |
ClinGen gnomAD |
|
|
CA355127069 rs1388826508 |
387 | P>L | No |
ClinGen gnomAD |
|
|
CA2674090 rs758123951 |
387 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1210480391 CA355127065 |
388 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 390 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483245039 CA355127039 |
392 | P>A | No |
ClinGen gnomAD |
|
|
CA2674089 rs754091943 |
392 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760718691 CA2674087 |
396 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs775613115 CA2674086 |
397 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs999621606 CA85782248 |
398 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA355126983 rs529965388 |
400 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355126989 rs1332986759 |
400 | D>N | No |
ClinGen gnomAD |
|
|
rs1410870522 CA355126981 |
401 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1176396180 CA355126968 |
403 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1362514485 CA355126949 |
405 | I>K | No |
ClinGen gnomAD |
|
|
rs146498505 CA2674084 |
406 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146498505 CA2674083 |
406 | R>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355126943 rs146498505 |
406 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2674065 rs759492179 |
407 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1200907512 CA355126914 |
409 | P>S | No |
ClinGen gnomAD |
|
|
CA2674058 rs761541315 |
414 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2674059 rs769389381 |
414 | H>R | No |
ClinGen ExAC |
|
|
rs543903099 CA2674060 |
414 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355126871 rs1204957832 |
415 | R>K | No |
ClinGen gnomAD |
|
|
CA2674057 rs9438 VAR_027141 |
416 | S>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs9438 CA355126863 |
416 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746474123 CA2674055 |
423 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355126815 rs1254892200 |
423 | M>V | No |
ClinGen gnomAD |
|
|
rs1302098656 CA355126790 |
426 | H>R | No |
ClinGen gnomAD |
|
|
CA2674052 rs745734355 |
427 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1010043030 CA85781992 |
428 | N>H | No |
ClinGen Ensembl |
|
|
CA2674051 rs778759805 |
428 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs201175580 CA2674050 |
429 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2674049 rs752990736 |
431 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1432822056 CA355126743 |
433 | E>A | No |
ClinGen gnomAD |
|
|
CA2674048 rs781220404 |
434 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1189351206 CA355126724 |
435 | K>N | No |
ClinGen gnomAD |
|
|
rs755131401 CA2674047 |
437 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA2674043 rs763540777 |
438 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA355126707 rs751657520 |
438 | I>R | No |
ClinGen ExAC gnomAD |
|
|
CA2674045 rs751657520 |
438 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA355126701 rs1186038497 |
439 | Y>C | No |
ClinGen TOPMed |
|
|
CA2674042 rs750902113 |
440 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs765639976 CA2674041 |
442 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2674040 rs762046431 |
442 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765639976 CA355126681 |
442 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA355126659 rs1347815111 |
445 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA355126650 rs1405076107 |
446 | Y>F | No |
ClinGen TOPMed |
|
|
CA2674037 rs149315263 |
449 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149315263 CA355126631 |
449 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774980712 CA2674036 |
451 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs191495075 CA2674034 |
452 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 452 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355126610 rs1340631917 |
453 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 454 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2674024 rs758486477 |
455 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371713336 CA355126579 |
456 | A>S | No |
ClinGen ESP gnomAD |
|
|
CA85781964 rs371713336 |
456 | A>T | No |
ClinGen ESP gnomAD |
|
|
CA2674023 rs750970956 |
456 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2674022 rs111899617 |
457 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 458 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1032424652 CA85781963 |
459 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA355126554 rs1444301834 |
460 | D>G | No |
ClinGen gnomAD |
|
|
CA355126558 rs1308350099 |
460 | D>N | No |
ClinGen gnomAD |
|
|
CA355126553 rs1444301834 |
460 | D>V | No |
ClinGen gnomAD |
|
|
rs1352654246 CA355126550 |
461 | V>I | No |
ClinGen gnomAD |
|
|
rs763875729 CA2674019 |
462 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA355126529 rs1389639064 |
464 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2674018 rs201400534 |
465 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 468 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2674016 rs775068749 |
470 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1179249482 CA355126472 |
471 | D>G | No |
ClinGen gnomAD |
|
|
CA355126466 rs1395012777 |
472 | L>Q | No |
ClinGen TOPMed |
|
|
rs112262409 CA85781961 |
473 | N>D | No |
ClinGen Ensembl |
|
|
rs758993869 CA85781960 |
476 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2674014 rs758993869 |
476 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs536514494 CA85781959 |
478 | L>V | No |
ClinGen Ensembl |
|
|
rs1274726510 CA355126424 |
479 | I>T | No |
ClinGen gnomAD |
|
|
rs1036399719 CA85781958 |
479 | I>V | No |
ClinGen Ensembl |
|
|
CA2674013 rs774393087 |
480 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 481 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355126417 rs1450721317 |
481 | Y>N | No |
ClinGen TOPMed |
|
| TCGA novel | 481 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770740239 CA2674012 |
483 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749172236 CA2674011 |
485 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762811159 CA2673993 |
488 | D>V | No |
ClinGen ExAC gnomAD |
|
|
COSM728641 CA2673992 rs773134906 |
490 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1055041069 CA85781887 |
491 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA355126320 rs1452157323 |
494 | F>L | No |
ClinGen gnomAD |
|
|
CA85781886 rs867985484 |
496 | P>S | No |
ClinGen Ensembl |
|
|
rs1437163102 CA355126298 |
497 | G>A | No |
ClinGen gnomAD |
|
|
rs1191263664 CA355126270 |
501 | I>V | No |
ClinGen gnomAD |
|
|
rs775904709 CA2673989 |
502 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355126233 rs1559952988 |
506 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 508 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA85781885 rs1045735686 |
509 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs746029389 CA2673987 |
510 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259931668 CA355126196 |
511 | Q>H | No |
ClinGen gnomAD |
|
|
rs916682162 CA85781884 |
512 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 519 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355126116 rs1478788728 |
520 | L>F | No |
ClinGen TOPMed |
|
|
CA2673954 rs761830719 |
521 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA355126097 rs1395162267 |
523 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs776349643 CA2673952 |
523 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774482192 CA2673950 |
528 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs201995049 CA2673948 |
530 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355126020 rs1365536357 |
535 | Q>* | No |
ClinGen gnomAD |
|
|
rs766565110 CA355125967 |
540 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs766565110 CA2673929 |
540 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA2673927 rs773354597 |
543 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs773354597 CA2673928 |
543 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA85781246 rs143919087 |
545 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2673925 rs143919087 |
545 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370292953 CA2673926 |
545 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355125934 rs1486405293 |
547 | I>V | No |
ClinGen TOPMed |
|
|
CA2673922 rs376255288 |
548 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2673921 rs775911753 |
549 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs555040815 CA2673919 |
554 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2673881 rs769129846 |
560 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2673882 rs777343688 |
560 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 561 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749806167 COSM3004427 CA2673880 |
562 | D>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1204653300 CA355125817 |
563 | V>I | No |
ClinGen gnomAD |
|
|
rs754807929 CA355125810 |
564 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754807929 CA2673878 |
564 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2673877 rs751332755 |
565 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2673876 rs779164052 |
570 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA2673875 rs375099457 |
572 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs911524805 CA85781118 |
575 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA355125735 rs1231204154 |
575 | T>S | No |
ClinGen gnomAD |
|
|
CA355125732 rs1300923973 |
576 | H>N | No |
ClinGen TOPMed |
|
|
CA85781117 rs934434664 |
576 | H>R | No |
ClinGen gnomAD |
|
|
CA2673872 rs760620287 |
582 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85781116 VAR_027142 rs17853513 |
583 | I>N | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1405027474 CA355125679 |
583 | I>V | No |
ClinGen TOPMed |
|
|
rs747991225 CA2673871 |
584 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs747991225 CA85781115 |
584 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2673870 rs768102537 |
585 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs774855423 CA2673868 |
586 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405105096 CA355125661 |
586 | M>T | No |
ClinGen gnomAD |
|
|
rs774855423 CA85781114 |
586 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2673866 rs762683262 |
588 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469002134 CA355125646 |
588 | A>V | No |
ClinGen gnomAD |
|
|
CA355125630 rs1468682616 |
590 | W>C | No |
ClinGen gnomAD |
|
|
CA2673864 rs769378583 |
597 | K>E | No |
ClinGen ExAC gnomAD |
|
| rs778305476 | 599 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2673861 rs781157437 |
600 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355125550 rs1223273053 |
602 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 602 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1576864462 CA355125532 |
605 | R>K | No |
ClinGen Ensembl |
|
|
CA2673843 rs763189600 |
606 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2673842 rs772959037 |
607 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2673841 rs764775767 |
608 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355125501 rs1576862260 |
608 | P>R | No |
ClinGen Ensembl |
|
| TCGA novel | 609 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761444991 CA2673840 |
610 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355125474 rs1374135662 |
612 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 615 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429025334 CA355125447 |
616 | N>D | No |
ClinGen gnomAD |
|
|
rs1314010717 CA355125417 |
620 | A>G | No |
ClinGen gnomAD |
|
|
rs1396372358 CA355125396 |
624 | D>H | No |
ClinGen gnomAD |
|
|
rs775355206 CA2673836 |
626 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371829924 CA85780788 |
631 | I>N | No |
ClinGen ESP |
|
|
rs771930327 CA2673835 |
633 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA2673834 rs745616345 |
634 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs143189936 CA2673833 |
637 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 638 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262462940 CA355125285 |
640 | C>Y | No |
ClinGen gnomAD |
|
|
CA355125261 rs1211525526 |
643 | I>T | No |
ClinGen gnomAD |
|
|
CA355125254 rs1233159297 |
644 | K>R | No |
ClinGen TOPMed |
|
|
rs535950163 CA2673814 |
647 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755150998 CA2673812 |
649 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA2673813 rs755150998 |
649 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs2666194 CA355125213 |
649 | G>R | No |
ClinGen gnomAD |
|
|
rs2666194 CA85780729 |
649 | G>S | No |
ClinGen gnomAD |
|
|
rs747063807 CA2673810 |
650 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1057155848 CA85780727 |
651 | I>T | No |
ClinGen Ensembl |
|
|
CA2673809 rs374959754 |
652 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355125190 rs1463763987 |
653 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 655 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs908638366 CA85780726 |
659 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA85780725 rs984168279 |
661 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs984168279 CA355125135 |
661 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs984168279 CA85780724 |
661 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 663 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355125112 rs1419530710 |
664 | N>K | No |
ClinGen gnomAD |
|
|
rs765531803 CA2673806 |
667 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355125097 rs1247490947 |
667 | V>M | No |
ClinGen TOPMed |
|
|
CA355125089 rs1176799059 |
668 | L>S | No |
ClinGen gnomAD |
|
|
rs1576861615 CA355125083 |
669 | L>F | No |
ClinGen Ensembl |
|
|
rs1274013189 CA355125074 |
670 | S>F | No |
ClinGen gnomAD |
|
|
CA85780722 rs201582480 |
671 | I>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA2673803 rs763701497 |
671 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA355125055 rs1240396068 |
673 | H>Q | No |
ClinGen gnomAD |
|
|
CA2673786 rs746382604 |
678 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs757655851 CA2673784 |
679 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA355124971 rs149205201 |
684 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149205201 CA2673782 |
684 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs773557405 | 685 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 685 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA85780292 rs1023547104 |
687 | T>I | No |
ClinGen TOPMed |
|
|
CA355124943 rs1382539365 |
688 | P>A | No |
ClinGen gnomAD |
|
|
rs1382539365 CA355124942 |
688 | P>S | No |
ClinGen gnomAD |
|
|
rs1362459799 CA355124918 |
692 | H>Y | No |
ClinGen gnomAD |
|
|
CA2673780 rs755754972 |
695 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs752340783 CA2673779 |
695 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766960645 CA2673778 |
697 | P>L | No |
ClinGen ExAC |
|
|
rs375447310 CA2673776 |
698 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773137935 CA2673773 |
701 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355124863 rs1449445667 |
701 | H>Y | No |
ClinGen gnomAD |
|
|
CA355124856 rs1357657536 |
702 | I>F | No |
ClinGen TOPMed |
|
|
CA355124854 rs1168794447 |
702 | I>T | No |
ClinGen gnomAD |
|
|
CA355124814 rs1222257475 |
708 | F>L | No |
ClinGen TOPMed |
|
|
rs1424691368 CA355124796 |
710 | A>V | No |
ClinGen gnomAD |
|
|
CA85780289 rs372524615 |
712 | F>L | No |
ClinGen Ensembl |
|
|
rs1261405159 CA355124781 |
713 | C>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 717 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355124742 rs1249904189 |
718 | V>A | No |
ClinGen TOPMed |
|
|
rs1194332211 CA355124746 |
718 | V>I | No |
ClinGen TOPMed |
|
|
CA85780287 rs998897815 |
720 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1280443240 CA355124728 |
721 | I>V | No |
ClinGen gnomAD |
|
|
CA355124709 rs1383306234 |
724 | S>G | No |
ClinGen TOPMed |
|
|
CA2673770 rs775729954 |
724 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs199954319 CA85780285 |
725 | L>F | No |
ClinGen Ensembl |
|
|
rs1342485127 CA355124699 |
725 | L>R | No |
ClinGen gnomAD |
|
|
CA355124697 rs1443734599 |
726 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 727 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768176187 CA2673769 |
728 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs370305174 CA2673767 |
732 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370305174 CA85780284 |
732 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1043187850 CA85780283 |
733 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 737 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA85780276 rs1006752629 |
738 | E>G | No |
ClinGen Ensembl |
|
|
CA355124579 rs1467398968 |
741 | A>V | No |
ClinGen gnomAD |
|
|
rs1432551622 CA355124578 |
742 | D>N | No |
ClinGen Ensembl |
|
|
CA85780275 rs889193975 |
743 | A>G | No |
ClinGen TOPMed |
|
|
CA2673749 rs759590228 |
743 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA85780274 rs889193975 |
743 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 745 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173603513 CA355124549 |
746 | K>R | No |
ClinGen TOPMed |
|
|
CA2673748 rs774480904 |
749 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2673747 rs763254140 |
751 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355124516 rs763254140 |
751 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472720050 CA355124479 |
756 | H>D | No |
ClinGen gnomAD |
|
|
CA2673745 rs773671514 |
760 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs773260677 CA2673744 |
762 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 767 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465022762 CA355124068 |
768 | E>G | No |
ClinGen TOPMed |
|
|
CA2673708 rs753647774 |
771 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA2673707 rs777634590 |
771 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM728643 CA2673706 rs755829356 |
772 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs751823753 CA2673705 |
772 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2673704 rs766568571 |
774 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA355124009 rs1477564808 |
775 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1263556631 CA355124004 |
775 | R>S | No |
ClinGen gnomAD |
|
|
COSM1420110 CA355123989 rs1487247381 |
777 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs983909341 CA85780009 |
779 | D>N | No |
ClinGen TOPMed |
|
|
CA355123909 rs1211664222 |
783 | E>G | No |
ClinGen gnomAD |
|
|
CA2673701 rs765164564 |
784 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs762396977 CA2673700 |
789 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs776953926 CA2673699 |
790 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA85779999 rs952113824 |
792 | Q>R | No |
ClinGen TOPMed |
|
|
rs146446831 CA2673682 |
796 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355123686 rs1398242873 |
796 | N>K | No |
ClinGen gnomAD |
|
|
CA355123679 rs1484180595 |
797 | M>T | No |
ClinGen TOPMed |
|
|
rs1185888771 CA355123659 |
799 | G>R | No |
ClinGen TOPMed |
|
|
CA2673681 rs530250010 |
799 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1300529451 CA355123620 |
802 | A>T | No |
ClinGen gnomAD |
|
|
rs1164939005 CA355123545 |
809 | G>A | No |
ClinGen TOPMed |
|
|
CA2673679 rs754409173 |
812 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1172611926 CA355123473 |
816 | P>A | No |
ClinGen gnomAD |
|
|
rs1463863908 CA355123471 |
816 | P>H | No |
ClinGen gnomAD |
|
|
CA355123448 rs1165415483 |
818 | D>G | No |
ClinGen gnomAD |
|
|
CA355123417 rs1425443544 |
821 | S>Y | No |
ClinGen gnomAD |
|
|
rs756689810 CA2673656 |
826 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs112204498 CA85779429 |
828 | E>G | No |
ClinGen Ensembl |
|
|
rs1265369789 CA355123295 |
829 | K>T | No |
ClinGen gnomAD |
|
|
rs762931017 CA85779427 |
835 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA85779422 rs766398981 |
836 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2673655 rs766398981 |
836 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768012758 CA2673654 |
841 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA355123162 rs1391845027 |
842 | K>R | No |
ClinGen TOPMed |
|
|
CA355123136 rs1334781429 |
844 | A>G | No |
ClinGen gnomAD |
|
|
CA355123106 rs1324011744 |
847 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs527309363 CA85779410 |
849 | N>K | No |
ClinGen gnomAD |
|
|
rs1158088108 CA355123085 |
850 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1388559804 CA355123072 |
851 | G>D | No |
ClinGen gnomAD |
|
|
rs1388559804 CA355123069 |
851 | G>V | No |
ClinGen gnomAD |
|
|
rs1035914470 CA85779407 |
853 | K>N | No |
ClinGen Ensembl |
|
|
CA85778787 rs1033707683 |
856 | M>I | No |
ClinGen Ensembl |
|
|
CA2673653 rs199890757 |
856 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753284230 CA2673634 |
858 | K>N | No |
ClinGen ExAC |
|
|
CA355122147 rs1195502919 |
858 | K>R | No |
ClinGen TOPMed |
|
|
rs768118881 CA355122131 |
860 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs768118881 CA2673633 |
860 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA355122091 rs751870066 |
864 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2673631 rs751870066 |
864 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2673630 rs766702613 |
867 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA355121988 rs1319449725 |
878 | Q>E | No |
ClinGen TOPMed |
|
|
rs761280991 CA2673627 |
880 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs761280991 CA2673626 |
880 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs776597389 CA2673625 |
882 | H>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1040187 CA2673624 rs372465114 |
884 | N>S | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2673623 rs760584736 |
885 | W>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 886 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355121914 rs1429870397 |
888 | Y>C | No |
ClinGen gnomAD |
|
|
CA2673622 rs368518294 |
889 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 889 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355121894 rs1284270899 |
891 | K>R | No |
ClinGen TOPMed |
|
|
rs1405581806 CA355121862 |
895 | S>R | No |
ClinGen gnomAD |
|
|
rs1394534782 CA355121864 |
895 | S>T | No |
ClinGen gnomAD |
|
|
CA2673606 rs199866859 |
898 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1166071480 CA355121796 COSM1203546 |
903 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1384021500 CA355121785 |
904 | E>D | No |
ClinGen gnomAD |
|
|
CA2673604 rs760538965 |
905 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA355121754 rs1203534130 |
909 | C>S | No |
ClinGen gnomAD |
|
|
CA85778551 rs757479472 |
910 | L>F | No |
ClinGen Ensembl |
|
|
rs1207928464 CA355121700 |
917 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA85778547 rs866726380 |
920 | Q>K | No |
ClinGen Ensembl |
|
|
CA355121653 rs377323319 |
923 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs998150992 CA355121649 |
924 | D>A | No |
ClinGen TOPMed |
|
|
rs998150992 CA85778542 |
924 | D>G | No |
ClinGen TOPMed |
|
|
CA2673598 rs151188512 |
924 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA85778539 rs902108724 |
926 | E>K | No |
ClinGen TOPMed |
|
|
rs781438310 CA2673597 |
926 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA355121613 rs1279376763 |
929 | A>V | No |
ClinGen gnomAD |
|
|
CA355121602 rs1200671964 |
931 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA355121601 rs1200671964 |
931 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750771753 CA2673592 |
933 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA355121541 rs1364444849 |
940 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 942 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 943 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753427207 CA2673589 |
944 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2673590 rs756907366 |
944 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142222613 CA2673591 |
944 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355121446 rs1559942446 |
952 | E>K | No |
ClinGen Ensembl |
|
|
CA355121439 rs1479521182 |
953 | L>V | No |
ClinGen TOPMed |
|
|
rs144256684 CA85778421 |
955 | I>M | No |
ClinGen ESP gnomAD |
|
|
rs779262363 CA2673572 |
955 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1196984514 CA355121426 |
955 | I>V | No |
ClinGen gnomAD |
|
|
CA2673570 rs748967470 |
959 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs777448506 CA355121392 |
960 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA2673569 rs777448506 |
960 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA355121385 rs1576852179 |
961 | I>T | No |
ClinGen Ensembl |
|
|
CA2673568 rs755625188 |
962 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752250569 CA2673567 |
965 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA355121352 rs1277011065 |
966 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766874499 CA2673566 |
967 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1223249933 CA355121337 |
968 | D>E | No |
ClinGen gnomAD |
|
|
rs1441179765 CA355121342 |
968 | D>H | No |
ClinGen TOPMed |
|
|
CA355121328 rs1319294505 |
969 | W>* | No |
ClinGen gnomAD |
|
|
CA2673565 rs377213039 |
970 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866209660 CA85778410 |
972 | T>A | No |
ClinGen Ensembl |
|
|
CA85778407 rs1032662220 |
975 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1424792297 CA355121278 |
977 | C>S | No |
ClinGen TOPMed |
|
|
CA355121274 rs1287727041 |
977 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA355121275 rs1287727041 |
977 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2673563 rs766309241 |
979 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs777044563 CA2673561 |
983 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1297969330 CA355121231 |
984 | I>M | No |
ClinGen TOPMed |
|
|
rs905581871 CA85778400 |
984 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 985 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA85778397 rs201136651 |
990 | Q>L | No |
ClinGen Ensembl |
|
| TCGA novel | 992 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2673560 rs555450521 |
994 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372847714 CA2673559 |
996 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1426624053 CA355120930 |
997 | N>S | No |
ClinGen gnomAD |
|
|
CA355120917 rs1261160680 |
999 | P>A | No |
ClinGen gnomAD |
|
|
CA2673558 rs147970714 |
999 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA85778389 rs894924455 |
1000 | P>T | No |
ClinGen TOPMed |
|
|
CA2673556 rs143454337 |
1001 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs140010768 CA2673555 |
1001 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355120882 rs1260348335 |
1004 | D>E | No |
ClinGen gnomAD |
|
|
rs147479799 CA2673554 |
1005 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA85778382 rs867399225 |
1006 | Y>C | No |
ClinGen gnomAD |
|
|
CA2673552 rs61757598 |
1008 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1009 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1009 | S>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9H2U1
6 regional properties for Q9H2U1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Helicase, C-terminal | 477 - 647 | IPR001650 |
| conserved_site | DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site | 329 - 338 | IPR002464 |
| domain | Helicase-associated domain | 669 - 760 | IPR007502 |
| domain | DEAD/DEAH box helicase domain | 212 - 372 | IPR011545 |
| domain | DEAD-box helicase, OB fold | 831 - 917 | IPR011709 |
| domain | Helicase superfamily 1/2, ATP-binding domain | 205 - 396 | IPR014001 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.12 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic stress granule | A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perikaryon | The portion of the cell soma (neuronal cell body) that excludes the nucleus. |
19 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| ATP-dependent activity, acting on DNA | Catalytic activity that acts to modify DNA, driven by ATP hydrolysis. |
| DNA helicase activity | Unwinding of a DNA helix, driven by ATP hydrolysis. |
| double-stranded RNA binding | Binding to double-stranded RNA. |
| G-quadruplex DNA binding | Binding to G-quadruplex DNA structures, in which groups of four guanines adopt a flat, cyclic Hoogsteen hydrogen-bonding arrangement known as a guanine tetrad. The stacking of guanine tetrads results in G-quadruplex DNA structures. G-quadruplex DNA can form under physiological conditions from some G-rich sequences, such as those found in telomeres, immunoglobulin switch regions, gene promoters, fragile X repeats, and the dimerization domain in the human immunodeficiency virus (HIV) genome. |
| G-quadruplex RNA binding | Binding to a G-quadruplex RNA structure, in which groups of four guanines adopt a flat, cyclic hydrogen-bonding arrangement known as a guanine tetrad. |
| histone deacetylase binding | Binding to histone deacetylase. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| mRNA 3'-UTR AU-rich region binding | Binding to a region containing frequent adenine and uridine bases within the 3' untranslated region of a mRNA molecule or in pre-mRNA intron. The ARE-binding element consensus is UUAUUUAUU. ARE-binding proteins control the stability and/or translation of mRNAs. |
| mRNA 3'-UTR binding | Binding to a 3' untranslated region of an mRNA molecule. |
| mRNA 5'-UTR binding | Binding to an mRNA molecule at its 5' untranslated region. |
| pre-miRNA binding | Binding to a precursor microRNA (pre-miRNA) transcript, a stem-loop-containing precursor of microRNA. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| single-stranded DNA binding | Binding to single-stranded DNA. |
| telomerase RNA binding | Binding to the telomerase RNA template. |
| transcription cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
32 GO annotations of biological process
| Name | Definition |
|---|---|
| 3'-UTR-mediated mRNA destabilization | An mRNA destabilization process in which one or more RNA-binding proteins associate with the 3'-untranslated region (UTR) of an mRNA. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cellular response to arsenite ion | 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 an arsenite ion stimulus. |
| cellular response to heat | 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 heat stimulus, a temperature stimulus above the optimal temperature for that organism. |
| cellular response to UV | 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 an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| G-quadruplex DNA unwinding | The process by which G-quadruplex (also known as G4) DNA, which is a four-stranded DNA structure held together by guanine base pairing, is unwound or 'melted'. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| negative regulation of translation | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| ossification | The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| positive regulation of cardioblast differentiation | Any process that activates or increases the frequency, rate or extent of cardioblast differentiation, the process in which a relatively unspecialized mesodermal cell acquires the specialized structural and/or functional features of a cardioblast. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating. |
| positive regulation of cytoplasmic translation | Any process that activates or increases the frequency, rate or extent of cytoplasmic translation. |
| positive regulation of dendritic spine morphogenesis | Any process that increases the rate, frequency, or extent of dendritic spine morphogenesis, the process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of hematopoietic progenitor cell differentiation | Any process that activates or increases the frequency, rate or extent of hematopoietic progenitor cell differentiation. |
| positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| positive regulation of interferon-alpha production | Any process that activates or increases the frequency, rate, or extent of interferon-alpha production. |
| positive regulation of intracellular mRNA localization | Any process that activates or increases the frequency, rate or extent of intracellular mRNA localization. |
| positive regulation of mRNA 3'-end processing | Any process that activates or increases the frequency, rate or extent of mRNA 3'-end processing. |
| positive regulation of myeloid dendritic cell cytokine production | Any process that activates or increases the frequency, rate, or extent of myeloid dendritic cell cytokine production. |
| positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | Any process that activates or increases the frequency, rate or extent of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay. |
| positive regulation of telomere maintenance | Any process that activates or increases the frequency, rate or extent of a process that affects and monitors the activity of telomeric proteins and the length of telomeric DNA. |
| positive regulation of telomere maintenance via telomere lengthening | Any process that activates or increases the frequency, rate or extent of telomere maintenance via telomere lengthening. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| positive regulation of transcription initiation by RNA polymerase II | Any process that increases the rate, frequency or extent of a process involved in starting transcription from an RNA polymerase II promoter. |
| regulation of embryonic development | Any process that modulates the frequency, rate or extent of embryonic development. |
| regulation of mRNA stability | Any process that modulates the propensity of mRNA molecules to degradation. Includes processes that both stabilize and destabilize mRNAs. |
| regulation of transcription by RNA polymerase III | Any process that modulates the frequency, rate or extent of transcription mediated by RNA ploymerase III. |
| response to exogenous dsRNA | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an exogenous double-stranded RNA stimulus. |
| RNA secondary structure unwinding | The process in which a secondary structure of RNA are broken or 'melted'. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
| telomerase RNA stabilization | Prevention of degradation of telomerase RNA (TERC) molecules. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P43329 | hrpA | ATP-dependent RNA helicase HrpA | Escherichia coli (strain K12) | PR |
| O60231 | DHX16 | Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 | Homo sapiens (Human) | PR |
| Q8IX18 | DHX40 | Probable ATP-dependent RNA helicase DHX40 | Homo sapiens (Human) | PR |
| Q6P158 | DHX57 | Putative ATP-dependent RNA helicase DHX57 | Homo sapiens (Human) | PR |
| Q7L7V1 | DHX32 | Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 | Homo sapiens (Human) | PR |
| O43143 | DHX15 | ATP-dependent RNA helicase DHX15 | Homo sapiens (Human) | PR |
| Q8IY37 | DHX37 | Probable ATP-dependent RNA helicase DHX37 | Homo sapiens (Human) | PR |
| Q92620 | DHX38 | Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 | Homo sapiens (Human) | PR |
| Q14BI7 | Tdrd9 | ATP-dependent RNA helicase TDRD9 | Mus musculus (Mouse) | PR |
| Q8VHK9 | Dhx36 | ATP-dependent DNA/RNA helicase DHX36 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSYDYHQNWG | RDGGPRSSGG | GYGGGPAGGH | GGNRGSGGGG | GGGGGGRGGR | GRHPGHLKGR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EIGMWYAKKQ | GQKNKEAERQ | ERAVVHMDER | REEQIVQLLN | SVQAKNDKES | EAQISWFAPE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DHGYGTEVST | KNTPCSENKL | DIQEKKLINQ | EKKMFRIRNR | SYIDRDSEYL | LQENEPDGTL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DQKLLEDLQK | KKNDLRYIEM | QHFREKLPSY | GMQKELVNLI | DNHQVTVISG | ETGCGKTTQV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TQFILDNYIE | RGKGSACRIV | CTQPRRISAI | SVAERVAAER | AESCGSGNST | GYQIRLQSRL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PRKQGSILYC | TTGIILQWLQ | SDPYLSSVSH | IVLDEIHERN | LQSDVLMTVV | KDLLNFRSDL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KVILMSATLN | AEKFSEYFGN | CPMIHIPGFT | FPVVEYLLED | VIEKIRYVPE | QKEHRSQFKR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GFMQGHVNRQ | EKEEKEAIYK | ERWPDYVREL | RRRYSASTVD | VIEMMEDDKV | DLNLIVALIR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YIVLEEEDGA | ILVFLPGWDN | ISTLHDLLMS | QVMFKSDKFL | IIPLHSLMPT | VNQTQVFKRT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PPGVRKIVIA | TNIAETSITI | DDVVYVIDGG | KIKETHFDTQ | NNISTMSAEW | VSKANAKQRK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GRAGRVQPGH | CYHLYNGLRA | SLLDDYQLPE | ILRTPLEELC | LQIKILRLGG | IAYFLSRLMD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PPSNEAVLLS | IRHLMELNAL | DKQEELTPLG | VHLARLPVEP | HIGKMILFGA | LFCCLDPVLT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| IAASLSFKDP | FVIPLGKEKI | ADARRKELAK | DTRSDHLTVV | NAFEGWEEAR | RRGFRYEKDY |
| 790 | 800 | 810 | 820 | 830 | 840 |
| CWEYFLSSNT | LQMLHNMKGQ | FAEHLLGAGF | VSSRNPKDPE | SNINSDNEKI | IKAVICAGLY |
| 850 | 860 | 870 | 880 | 890 | 900 |
| PKVAKIRLNL | GKKRKMVKVY | TKTDGLVAVH | PKSVNVEQTD | FHYNWLIYHL | KMRTSSIYLY |
| 910 | 920 | 930 | 940 | 950 | 960 |
| DCTEVSPYCL | LFFGGDISIQ | KDNDQETIAV | DEWIVFQSPA | RIAHLVKELR | KELDILLQEK |
| 970 | 980 | 990 | 1000 | ||
| IESPHPVDWN | DTKSRDCAVL | SAIIDLIKTQ | EKATPRNFPP | RFQDGYYS |