Q9H706
PR
Gene name |
GAREM1 (C18orf11, FAM59A, GAREM) |
Protein name |
GRB2-associated and regulator of MAPK protein 1 |
Names |
GRB2-associated and regulator of MAPK1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64762 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q9H706
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DKZ | NMR | - | A | 801-871 | PDB |
| AF-Q9H706-F1 | Predicted | AlphaFoldDB |
693 variants for Q9H706
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA402257790 rs778849733 |
3 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8931916 rs778849733 |
3 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402257794 rs1358238396 |
3 | P>T | No |
ClinGen gnomAD |
|
|
rs1353467957 CA402257786 |
4 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA402257784 rs1353467957 |
4 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs562843933 CA8931915 |
5 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1239956699 CA402257781 |
5 | P>S | No |
ClinGen TOPMed |
|
|
rs1411747794 CA402257776 |
6 | S>A | No |
ClinGen gnomAD |
|
|
CA402257775 rs1336367675 |
6 | S>W | No |
ClinGen gnomAD |
|
|
CA402257762 rs1408388524 |
8 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1166082141 CA402257758 |
9 | C>Y | No |
ClinGen gnomAD |
|
|
CA402257750 rs761928984 |
10 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs767512562 CA8931913 |
10 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs969058964 CA298346926 |
10 | S>R | No |
ClinGen TOPMed |
|
|
rs761928984 CA8931912 |
10 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1450496300 CA402257747 |
11 | L>F | No |
ClinGen TOPMed |
|
|
CA8931911 rs544498241 |
12 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763289866 CA8931909 |
13 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402257735 rs763289866 |
13 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8931908 rs775732167 |
14 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402257709 rs1452952796 |
16 | W>C | No |
ClinGen gnomAD |
|
|
CA8931907 rs770268858 |
17 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458613684 CA402257702 |
17 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs776159111 CA8931905 |
18 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs770546920 CA8931904 |
20 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1228879800 CA402257684 |
20 | A>V | No |
ClinGen gnomAD |
|
|
rs746560716 CA8931903 CA402257682 |
21 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747905976 CA8931900 |
24 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA402257665 rs747905976 |
24 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA402257653 rs1162035539 |
26 | L>M | No |
ClinGen gnomAD |
|
|
CA402257637 rs1156291417 |
28 | S>I | No |
ClinGen gnomAD |
|
|
rs1478843297 CA402257627 |
30 | Y>H | No |
ClinGen gnomAD |
|
|
rs561279205 CA298346923 |
33 | P>A | No |
ClinGen gnomAD |
|
|
rs561279205 CA402257609 |
33 | P>S | No |
ClinGen gnomAD |
|
|
rs757324111 CA8931895 |
34 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs751694952 CA8931894 |
35 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA298346922 rs902036148 |
35 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1222141249 CA402257579 |
38 | L>P | No |
ClinGen gnomAD |
|
|
CA402257569 rs1304468805 |
39 | D>E | No |
ClinGen gnomAD |
|
|
rs1347136424 CA402257576 |
39 | D>N | No |
ClinGen gnomAD |
|
|
CA402257544 rs1402709693 |
41 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA402257536 CA402257535 rs1372022523 |
42 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs867423251 CA298338429 |
42 | E>K | No |
ClinGen TOPMed |
|
|
rs867423251 CA402257541 |
42 | E>Q | No |
ClinGen TOPMed |
|
|
rs138867528 CA8931874 |
43 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1401444498 CA402257532 |
43 | C>Y | No |
ClinGen TOPMed |
|
|
rs201273449 CA8931872 |
44 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 45 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs553684099 CA298338428 |
45 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402257512 rs1246271419 |
46 | G>E | No |
ClinGen TOPMed |
|
|
rs767112491 CA8931867 |
47 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA8931866 rs761422995 |
47 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143598457 CA402257506 |
48 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375153984 CA8931863 |
48 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8931864 rs143598457 |
48 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 49 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402257495 rs1158857515 |
50 | N>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 50 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1202861186 CA402257491 |
50 | N>S | No |
ClinGen TOPMed |
|
|
rs775269229 CA402257481 |
51 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA298338426 rs930798778 |
52 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA298338427 rs983146473 |
52 | Y>N | No |
ClinGen gnomAD |
|
|
rs930798778 CA402257476 |
52 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA402257455 rs1292212274 |
56 | H>D | No |
ClinGen gnomAD |
|
|
rs1412394749 CA402257452 |
56 | H>R | No |
ClinGen gnomAD |
|
|
CA298338425 rs76539001 |
57 | S>P | No |
ClinGen Ensembl |
|
|
CA8931860 rs745830381 |
58 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143393429 CA8931859 COSM3742605 |
59 | R>H | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143393429 CA402257432 |
59 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402257425 rs1352593918 |
60 | Q>H | No |
ClinGen gnomAD |
|
|
CA8931857 rs748329346 |
65 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs939610574 CA298338424 |
68 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA402257370 rs1567992718 |
68 | S>R | No |
ClinGen Ensembl |
|
|
CA402257373 rs1185635736 |
68 | S>T | No |
ClinGen gnomAD |
|
|
CA8931856 rs778994354 |
72 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8931854 rs754211888 |
74 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs756593676 CA8931852 |
75 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA298338423 rs1027815386 |
76 | I>V | No |
ClinGen Ensembl |
|
|
rs1194265174 CA402257294 |
80 | I>L | No |
ClinGen TOPMed |
|
|
rs927937393 CA298338422 |
80 | I>T | No |
ClinGen TOPMed |
|
|
rs1194265174 CA402257293 |
80 | I>V | No |
ClinGen TOPMed |
|
|
rs1335827863 CA402257284 |
81 | E>G | No |
ClinGen gnomAD |
|
|
rs1273127253 CA402257278 |
82 | I>F | No |
ClinGen gnomAD |
|
|
rs1231949829 CA402257268 |
83 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA402257264 rs1390516083 |
84 | V>E | No |
ClinGen gnomAD |
|
|
CA402257263 rs1390516083 |
84 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 88 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402179545 rs1193439668 |
91 | K>T | No |
ClinGen TOPMed |
|
|
rs1383913361 CA402179476 |
94 | E>G | No |
ClinGen gnomAD |
|
|
rs919486410 CA297783055 |
96 | D>E | No |
ClinGen TOPMed |
|
|
rs1385576686 CA402179408 |
97 | R>G | No |
ClinGen gnomAD |
|
|
CA8931832 rs757787792 |
97 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
COSM173905 CA402179347 rs1377769670 |
99 | I>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA402179360 rs1343464484 |
99 | I>V | No |
ClinGen gnomAD |
|
|
CA8931831 rs750993884 |
100 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs972337227 CA297783048 |
100 | K>R | No |
ClinGen TOPMed |
|
|
CA8931829 rs762500100 |
103 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140874560 CA8931830 |
103 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200207547 CA8931827 |
107 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8931826 rs200207547 |
107 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8931825 rs776502086 COSM1640954 |
108 | S>N | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8931823 CA402179110 rs372295234 |
111 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA402179103 rs1346689071 |
112 | V>M | No |
ClinGen gnomAD |
|
|
CA402179091 rs1236770834 |
113 | A>T | No |
ClinGen TOPMed |
|
|
rs541098512 CA8931822 |
115 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1326748581 CA402179028 |
116 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM987779 CA402178948 rs1380421176 |
119 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1358752680 CA402178937 |
119 | R>H | No |
ClinGen gnomAD |
|
|
rs199846312 COSM3742604 CA8931818 |
120 | V>M | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA8931816 rs781643118 |
122 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs757656602 CA8931815 |
124 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA402178825 rs1369494572 |
124 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1267589566 CA402178762 |
126 | I>T | No |
ClinGen TOPMed |
|
|
rs368526702 CA8931814 |
127 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1373954567 CA402178742 |
127 | T>P | No |
ClinGen gnomAD |
|
|
CA8931811 rs752263819 |
129 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA8931813 rs146454381 |
129 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764815629 CA8931810 |
130 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764815629 CA402178673 |
130 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755842401 CA8931788 |
132 | V>F | No |
ClinGen ExAC |
|
|
rs755842401 CA297771372 |
132 | V>I | No |
ClinGen ExAC |
|
| TCGA novel | 134 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230038034 CA402174425 |
135 | G>D | No |
ClinGen gnomAD |
|
|
CA402174375 rs1598933008 |
138 | N>H | No |
ClinGen Ensembl |
|
|
CA402174359 rs895117849 |
138 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs895117849 CA297771344 |
138 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1331283075 CA402174299 |
141 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 144 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357123411 CA402174250 |
145 | N>S | No |
ClinGen gnomAD |
|
|
CA8931784 rs775663067 |
146 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA402174234 rs1336574428 |
146 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1398708740 CA402174202 |
149 | C>Y | No |
ClinGen TOPMed |
|
|
CA297771314 rs373837436 |
155 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA402174094 rs1373681362 |
160 | A>P | No |
ClinGen TOPMed |
|
|
CA402174095 rs1373681362 |
160 | A>T | No |
ClinGen TOPMed |
|
|
CA402174058 rs1598932933 |
165 | A>S | No |
ClinGen Ensembl |
|
|
rs1461353553 CA402174028 |
169 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1411062243 CA402174011 |
171 | K>M | No |
ClinGen gnomAD |
|
|
rs925385479 COSM987777 CA402174001 |
173 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA402174000 rs1470137164 |
173 | R>Q | No |
ClinGen gnomAD |
|
|
CA402173986 rs1310052782 |
175 | N>I | No |
ClinGen TOPMed |
|
|
CA402173979 rs1176342294 |
176 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 177 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8931780 rs771118511 |
177 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200546145 CA297771299 |
179 | K>R | No |
ClinGen TOPMed |
|
|
CA402173941 rs1213043436 |
182 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1467074436 CA402173918 |
185 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA297771297 rs113051833 |
186 | S>P | No |
ClinGen Ensembl |
|
|
CA8931779 rs761044732 |
192 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs376608987 CA8931778 |
193 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA297771284 rs945240079 |
196 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA402173825 rs1373703454 |
199 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779433249 CA8931775 |
201 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs546193858 CA8931774 |
202 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA402173784 rs1422190759 COSM1388433 |
204 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs748804605 CA8931773 |
205 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA402173783 rs748804605 |
205 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1330075484 CA402173770 |
207 | E>K | No |
ClinGen TOPMed |
|
|
rs755725005 CA8931771 |
209 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750191517 CA8931770 |
210 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA402173719 rs1300743752 |
214 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 218 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243791533 CA402173672 |
218 | R>K | No |
ClinGen gnomAD |
|
|
rs1216352616 CA402173652 |
219 | F>Y | No |
ClinGen gnomAD |
|
|
rs751511950 CA8931767 |
222 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs764195021 CA8931766 |
222 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA402173580 rs1304353504 |
224 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 224 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402173570 rs1234031971 |
225 | L>V | No |
ClinGen gnomAD |
|
|
CA8931764 rs370225304 COSM473766 |
228 | Q>E | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1272460505 CA402173518 |
228 | Q>P | No |
ClinGen gnomAD |
|
|
rs766559275 CA8931763 |
230 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760842146 CA8931762 |
231 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs773520329 CA8931761 |
232 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA402173400 rs1598932706 |
235 | T>P | No |
ClinGen Ensembl |
|
|
rs142444429 COSM244394 CA8931759 |
237 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8931758 rs774837699 COSM260809 |
237 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 241 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441652344 CA402173325 |
242 | K>N | No |
ClinGen TOPMed |
|
|
VAR_030580 CA297771125 rs671138 |
243 | T>N | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 245 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187081513 CA402173274 |
250 | T>I | No |
ClinGen gnomAD |
|
|
rs779453587 CA8931755 |
253 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs773295017 CA8931754 |
253 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757104286 CA8931751 |
256 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA297771062 rs35412921 |
256 | P>Q | No |
ClinGen Ensembl |
|
|
CA8931752 rs757104286 |
256 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777784471 CA8931749 |
259 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598932618 CA402173209 |
261 | D>A | No |
ClinGen Ensembl |
|
|
rs1425024516 CA402173210 |
261 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 263 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA297771042 rs112190509 |
264 | F>S | No |
ClinGen Ensembl |
|
|
CA8931747 rs766396873 |
266 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8931745 rs760845187 |
266 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8931746 rs766396873 |
266 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs750635330 CA8931744 |
267 | E>K | No |
ClinGen ExAC |
|
|
rs767797125 CA8931743 |
267 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8931742 rs762101462 COSM987775 |
270 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774713080 CA8931741 |
270 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054672821 CA297771029 |
272 | K>N | No |
ClinGen Ensembl |
|
|
CA402173122 rs1421195893 |
274 | V>G | No |
ClinGen gnomAD |
|
|
rs763402767 CA8931739 |
274 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA402173121 rs1598932554 |
275 | N>H | No |
ClinGen Ensembl |
|
|
CA297771016 rs373475695 |
276 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
COSM987773 rs769164552 CA8931737 |
280 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs769164552 CA297770993 |
280 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402173079 rs1278613575 |
281 | V>L | No |
ClinGen gnomAD |
|
|
CA8931736 rs745428061 |
282 | V>M | No |
ClinGen ExAC |
|
|
rs1217327929 CA402173064 |
284 | C>G | No |
ClinGen TOPMed |
|
|
CA402173053 rs776671626 |
285 | C>S | No |
ClinGen TOPMed |
|
|
CA297770977 rs776671626 |
285 | C>Y | No |
ClinGen TOPMed |
|
|
CA8931732 rs758311500 |
288 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8931731 rs758311500 |
288 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746740685 CA8931733 |
288 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs748001124 CA8931730 |
290 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA297770966 rs147290662 |
290 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA402173025 rs147290662 |
290 | N>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs3744921 VAR_030581 CA8931729 |
291 | K>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1276317247 CA402173007 COSM708051 |
293 | L>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA402172996 rs1298315883 |
295 | M>V | No |
ClinGen gnomAD |
|
|
CA8931726 rs750510616 |
298 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA402172970 rs750510616 |
298 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA402172957 rs1327625794 |
300 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 301 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757495598 CA8931724 |
302 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1164351007 CA402172932 |
304 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA402172929 rs1396070230 |
304 | P>R | No |
ClinGen TOPMed |
|
|
rs1410234835 CA402172920 |
305 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1422354267 CA402172923 |
305 | K>R | No |
ClinGen gnomAD |
|
|
rs1422354267 CA402172924 |
305 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 307 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8931723 rs751882903 |
310 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA297770908 rs945487853 |
312 | L>V | No |
ClinGen TOPMed |
|
|
CA8931722 rs764335169 |
313 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs201461114 CA297770893 |
315 | G>E | No |
ClinGen 1000Genomes TOPMed |
|
|
CA8931721 rs763424838 |
316 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1401978111 CA402172846 |
317 | S>G | No |
ClinGen TOPMed |
|
|
CA297770850 rs775846989 |
319 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8931720 rs775846989 |
319 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8931718 COSM987771 rs567363848 |
320 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs776293109 CA8931717 |
321 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA297770821 rs1047746906 |
321 | T>I | No |
ClinGen Ensembl |
|
|
CA402172804 rs1348845182 |
324 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA402172800 rs1238835671 |
324 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA402172802 rs1348845182 |
324 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8931715 rs746687527 |
325 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA8931714 rs772954811 |
326 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA8931713 rs377345910 |
329 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402172736 rs1291628124 |
333 | Q>R | No |
ClinGen gnomAD |
|
|
CA402172725 rs184904701 |
334 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs34217832 CA8931710 |
335 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8931709 rs369428584 |
336 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs971187669 CA297770727 |
337 | D>A | No |
ClinGen TOPMed |
|
|
CA8931707 rs757369040 |
337 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402172696 rs1216129082 |
339 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 341 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8931706 rs138720497 |
341 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8931704 rs758685005 |
342 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
COSM987767 rs1267086929 CA402172091 |
344 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs753109178 CA8931703 |
344 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA297770695 rs992353572 |
345 | D>V | No |
ClinGen TOPMed |
|
|
CA402172065 rs1260971634 |
346 | V>M | No |
ClinGen gnomAD |
|
|
CA8931702 rs765603291 |
347 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs188733917 CA8931701 |
348 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8931699 rs765951970 |
349 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760307057 CA8931698 |
351 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA402171935 rs1246230567 |
354 | C>S | No |
ClinGen gnomAD |
|
|
rs1020968458 CA297770671 |
355 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 356 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8931695 rs761460126 |
358 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs774219968 CA8931694 |
360 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175662517 CA402171889 |
361 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs768542166 CA8931693 |
361 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402171882 rs1377593199 |
362 | C>S | No |
ClinGen gnomAD |
|
|
rs1377593199 CA402171881 |
362 | C>Y | No |
ClinGen gnomAD |
|
|
CA8931690 rs770985123 |
364 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8931689 rs747179347 |
365 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1192477810 CA402171853 |
366 | N>K | No |
ClinGen gnomAD |
|
|
CA8931688 rs777789766 |
367 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs752953451 CA8931687 |
367 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779448529 CA402171845 |
368 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8931685 rs779448529 |
368 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254198457 CA402171834 |
370 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754371424 CA8931683 |
370 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA402171825 rs767047213 |
371 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767047213 CA8931682 |
371 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396702450 CA402171799 |
375 | A>D | No |
ClinGen gnomAD |
|
|
CA402171798 rs1396702450 |
375 | A>G | No |
ClinGen gnomAD |
|
|
CA8931679 rs144726811 |
375 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200162209 CA8931677 |
376 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1464040325 CA402171795 |
376 | R>H | No |
ClinGen gnomAD |
|
|
rs200162209 CA8931676 |
376 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200658176 CA8931675 |
377 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8931673 rs769727946 |
380 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA402171731 rs1366424515 |
381 | Q>R | No |
ClinGen gnomAD |
|
|
rs1441347176 CA402171718 |
382 | S>Y | No |
ClinGen gnomAD |
|
|
rs1367482038 CA402171685 |
384 | H>Q | No |
ClinGen TOPMed |
|
|
CA402171696 rs1182117848 |
384 | H>Y | No |
ClinGen TOPMed |
|
|
CA402171682 rs1473968911 |
385 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA297770479 rs955706952 |
385 | R>Q | No |
ClinGen gnomAD |
|
|
rs777928225 CA8931671 |
391 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA402171603 rs1465028800 |
391 | Y>F | No |
ClinGen TOPMed |
|
|
rs1567949574 CA402171587 |
392 | G>A | No |
ClinGen Ensembl |
|
|
rs772142491 CA8931670 |
392 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1216608954 CA402171576 |
393 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8931667 rs779322718 |
395 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs755376290 CA8931666 |
396 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1398377322 CA402171503 |
398 | N>S | No |
ClinGen TOPMed |
|
|
rs1339942161 CA402171418 |
404 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 405 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780655021 CA8931663 |
405 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8931662 rs756668647 |
407 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA297770398 rs1038656863 |
410 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 411 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767023548 CA8931660 |
412 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs751199855 CA8931658 |
413 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs775277452 CA8931656 |
414 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs775277452 CA8931657 |
414 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs775277452 CA8931655 |
414 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA402171313 rs1171993572 |
415 | P>S | No |
ClinGen gnomAD |
|
|
CA8931654 rs765108974 |
416 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs759547093 CA8931653 |
416 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA8931652 rs142560529 |
417 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402171291 rs1340528736 |
418 | H>Q | No |
ClinGen TOPMed |
|
|
CA8931650 rs748230201 |
418 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA402171278 rs1469656828 |
420 | I>N | No |
ClinGen gnomAD |
|
|
CA8931649 rs774706402 |
423 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs749018277 CA8931648 |
427 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1282470582 CA402171229 |
428 | D>H | No |
ClinGen gnomAD |
|
|
CA8931647 rs749624940 |
429 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402171197 rs1324684979 |
432 | D>G | No |
ClinGen gnomAD |
|
|
CA402171200 rs535391600 |
432 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8931644 rs535391600 |
432 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402171199 rs535391600 |
432 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1388177327 CA402171188 |
433 | Y>C | No |
ClinGen gnomAD |
|
|
rs1404367185 CA402171192 |
433 | Y>H | No |
ClinGen gnomAD |
|
|
CA8931643 COSM1721915 rs781609269 |
434 | L>F | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA297770313 rs890543571 |
434 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA297770319 rs781609269 |
434 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756787452 CA8931642 |
436 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs763678568 CA8931640 |
442 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs375128710 CA8931639 |
443 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375128710 CA8931638 |
443 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs765048578 CA8931637 |
444 | G>D | No |
ClinGen ExAC |
|
|
CA8931636 rs148857293 |
446 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402171099 rs1373933572 |
447 | G>A | No |
ClinGen TOPMed |
|
|
rs766290547 CA8931634 |
448 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA402171093 rs1206914217 |
448 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8931633 rs761898861 |
449 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs774599820 CA8931632 |
450 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA402171082 rs1238591261 |
450 | E>G | No |
ClinGen gnomAD |
|
|
rs184414230 CA8931631 |
451 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA14601847 rs184414230 |
451 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8931630 rs749493102 |
452 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749493102 CA402171073 |
452 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328943022 CA402171068 |
453 | Y>H | No |
ClinGen gnomAD |
|
|
rs770183045 CA8931628 |
454 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746286196 CA8931627 |
458 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA8931625 rs757717945 |
459 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs367927438 CA8931626 |
459 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1598931786 CA402171018 |
460 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 460 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8931624 rs201550947 |
462 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8931623 rs777294828 |
463 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757942027 CA8931622 |
464 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA402170986 rs1488771283 |
465 | H>R | No |
ClinGen gnomAD |
|
|
CA297770192 rs916957110 |
465 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 466 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402170970 rs1485285151 |
467 | P>L | No |
ClinGen TOPMed |
|
|
CA8931620 rs778485495 |
469 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314410684 CA402170960 |
469 | T>P | No |
ClinGen gnomAD |
|
|
rs527681949 CA8931618 |
470 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766295476 CA8931617 |
470 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339489434 CA402170939 |
473 | S>N | No |
ClinGen gnomAD |
|
|
CA8931614 rs140996840 |
474 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1567949259 CA402170919 |
476 | N>H | No |
ClinGen Ensembl |
|
|
CA402170912 rs1360108710 |
476 | N>K | No |
ClinGen TOPMed |
|
|
CA402170906 rs763185127 |
477 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA402170901 rs1412753708 |
478 | C>Y | No |
ClinGen gnomAD |
|
|
rs978857263 CA297770147 |
479 | D>Y | No |
ClinGen TOPMed |
|
|
rs775778755 CA8931612 |
480 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8931611 rs769913454 |
481 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423213640 CA402170863 |
483 | G>V | No |
ClinGen gnomAD |
|
|
rs759887837 CA8931610 |
484 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs370032993 CA8931608 |
485 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402170855 rs1238194833 |
485 | V>F | No |
ClinGen gnomAD |
|
|
rs1238194833 CA402170857 |
485 | V>I | No |
ClinGen gnomAD |
|
|
CA8931606 rs778300861 |
486 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA8931607 rs778300861 |
486 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8931604 rs375712135 |
486 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375712135 CA8931605 |
486 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8931603 rs778557546 |
487 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA402170850 rs1567949199 |
487 | S>P | No |
ClinGen Ensembl |
|
|
rs1373693238 CA402170846 |
488 | K>Q | No |
ClinGen TOPMed |
|
|
CA8931602 rs754612342 |
488 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1275927557 CA402170836 |
489 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1234517795 CA402170831 |
490 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8931601 rs16962974 VAR_030582 |
490 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 491 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1445697981 CA402170814 |
493 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA402170778 rs1464925351 |
497 | P>L | No |
ClinGen gnomAD |
|
|
rs1567949132 CA402170785 |
497 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1168792885 CA402170769 |
498 | G>E | No |
ClinGen gnomAD |
|
|
CA8931595 rs763060369 |
499 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763060369 CA8931596 |
499 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145513924 CA8931594 |
500 | L>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8931593 rs765449131 |
501 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs759708704 CA8931592 |
502 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA402170727 rs1199603325 |
502 | A>T | No |
ClinGen gnomAD |
|
|
rs1256630898 CA402170715 |
503 | A>T | No |
ClinGen gnomAD |
|
|
rs1223295249 CA402170671 |
506 | S>Y | No |
ClinGen gnomAD |
|
|
CA297770018 rs996890965 |
508 | D>G | No |
ClinGen TOPMed |
|
|
rs776950804 CA8931591 |
511 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402170565 rs1378957507 |
513 | P>L | No |
ClinGen gnomAD |
|
|
rs1446036490 CA402170527 |
515 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA402170398 rs1374372638 |
520 | S>F | No |
ClinGen gnomAD |
|
|
rs1038223392 CA297770001 |
522 | A>T | No |
ClinGen TOPMed |
|
|
CA8931572 rs766652195 |
523 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA402167691 rs1447494593 |
523 | V>I | No |
ClinGen TOPMed |
|
|
rs1379032107 CA629454051 |
524 | R>TGG* | No |
ClinGen gnomAD |
|
|
CA297758951 rs994266215 |
525 | E>Q | No |
ClinGen Ensembl |
|
|
CA8931571 rs760958336 |
526 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA8931570 rs773577321 |
528 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368693154 CA402167588 |
531 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1433538229 CA402167595 |
531 | N>Y | No |
ClinGen TOPMed |
|
|
CA402167583 rs1005816888 |
532 | A>P | No |
ClinGen gnomAD |
|
|
CA297758931 rs1005816888 |
532 | A>T | No |
ClinGen gnomAD |
|
|
CA8931566 rs768042188 |
533 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567941917 CA402167555 |
534 | P>R | No |
ClinGen Ensembl |
|
|
CA402167551 rs1288592315 |
535 | V>I | No |
ClinGen TOPMed |
|
|
rs1402117084 CA402167515 |
538 | R>G | No |
ClinGen gnomAD |
|
|
rs748897383 CA297758902 |
538 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs748897383 CA8931565 COSM987763 |
538 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8931562 rs376562453 |
540 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8931563 rs376562453 |
540 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402167453 rs1232133701 |
542 | P>A | No |
ClinGen TOPMed |
|
|
rs917350682 CA297758863 |
545 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA402167405 rs781162780 |
546 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs757157228 CA8931560 |
547 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1305112927 CA402167389 |
549 | I>N | No |
ClinGen gnomAD |
|
|
rs368373586 CA402167384 |
550 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs368373586 CA297758844 |
550 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA402167378 rs1174451619 |
551 | P>H | No |
ClinGen gnomAD |
|
|
CA8931558 rs777824584 |
551 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8931557 rs755005444 |
552 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753952972 CA8931556 |
552 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA297758837 rs756348019 |
554 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs756348019 CA8931554 |
554 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA297758827 rs1025334737 |
555 | K>N | No |
ClinGen TOPMed |
|
|
rs750686339 CA8931553 |
556 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 556 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8931551 rs762301004 COSM987759 |
557 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA297758804 rs867526130 |
558 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM1251925 rs144218911 CA8931550 |
558 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA402167331 rs1426679049 |
560 | Q>* | No |
ClinGen TOPMed |
|
|
rs374858159 CA8931549 |
562 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8931548 rs550531323 |
562 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA297758791 rs550531323 |
562 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402167310 rs1315003510 |
563 | S>C | No |
ClinGen gnomAD |
|
|
CA8931547 rs775164120 |
564 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402167300 rs1459112858 |
565 | S>N | No |
ClinGen TOPMed |
|
|
CA297758769 rs560954559 |
565 | S>R | No |
ClinGen Ensembl |
|
|
rs769532814 CA8931546 |
567 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467523629 CA402167284 |
568 | L>V | No |
ClinGen gnomAD |
|
|
CA8931545 rs759231574 |
569 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1567941731 CA402167262 |
571 | Y>C | No |
ClinGen Ensembl |
|
|
rs1000532154 CA297758744 |
571 | Y>H | No |
ClinGen TOPMed |
|
|
CA402167258 rs1567941728 |
572 | S>T | No |
ClinGen Ensembl |
|
|
rs1169512457 CA402167250 |
573 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 573 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402167243 rs1474254928 |
574 | G>E | No |
ClinGen gnomAD |
|
|
rs1434966747 CA402167232 |
576 | H>R | No |
ClinGen TOPMed |
|
|
CA402167221 rs200241874 |
577 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1195491978 CA402167215 |
578 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751967301 CA8931532 |
579 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA402167099 rs3891458 |
580 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3891458 CA8931530 VAR_030583 |
580 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 580 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 582 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764816275 CA8931528 |
584 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759175270 CA8931527 |
584 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA297757833 rs930824683 |
585 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs138732163 CA8931525 |
585 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA297757828 rs976152270 |
586 | N>T | No |
ClinGen Ensembl |
|
|
rs201591851 CA8931524 |
588 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8931523 rs114757911 |
589 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750886656 CA8931522 |
590 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 592 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8931520 rs778883367 |
593 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs142707286 CA8931521 |
593 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137998360 CA402167012 |
594 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137998360 CA8931519 |
594 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745956073 CA8931518 |
596 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs150358297 CA8931516 |
599 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8931515 rs751832801 |
600 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200375209 CA402166965 |
601 | V>G | No |
ClinGen TOPMed |
|
|
rs761287315 CA8931513 |
603 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8931514 rs371026664 |
603 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761287315 CA402166954 |
603 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8931512 rs753241061 |
605 | S>C | No |
ClinGen ExAC |
|
|
rs1199836229 CA402166935 |
606 | V>A | No |
ClinGen gnomAD |
|
|
CA8931510 rs759048804 |
608 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs140158232 CA8931509 |
611 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8931507 rs377655154 |
612 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402166901 rs1162649457 |
612 | F>L | No |
ClinGen TOPMed |
|
|
CA8931505 rs374273244 |
619 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8931504 rs761667486 |
620 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1343290575 CA402166840 |
621 | S>F | No |
ClinGen gnomAD |
|
|
CA8931503 rs774210648 |
622 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs151175832 CA8931502 |
623 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1400097689 CA402166833 |
623 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1316128170 CA402166826 |
624 | L>P | No |
ClinGen gnomAD |
|
|
CA402166818 rs745899962 CA8931501 |
626 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs200151944 CA402166778 |
629 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8931499 rs770957090 |
629 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs200151944 CA8931500 |
629 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA297757726 rs1035972696 |
629 | H>Y | No |
ClinGen Ensembl |
|
|
CA8931498 rs747230409 |
630 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA402166736 rs1195863060 |
632 | G>V | No |
ClinGen gnomAD |
|
|
CA8931495 rs748527130 |
633 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs758830047 CA8931496 |
633 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 639 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8931494 rs779501292 |
640 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA297757657 rs902963121 |
641 | D>E | No |
ClinGen Ensembl |
|
|
rs1444680822 CA402166571 |
641 | D>H | No |
ClinGen gnomAD |
|
|
CA402166565 rs1279736949 |
641 | D>V | No |
ClinGen gnomAD |
|
|
CA402166508 rs1567940795 |
644 | L>P | No |
ClinGen Ensembl |
|
|
CA402166514 rs1468443656 |
644 | L>V | No |
ClinGen gnomAD |
|
|
rs1223348153 CA402166479 |
646 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 648 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1041348556 CA297757656 |
649 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 649 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8931493 rs755560843 |
650 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1279709624 CA402166337 |
652 | Y>* | No |
ClinGen gnomAD |
|
|
CA402166325 rs1218935834 |
653 | P>L | No |
ClinGen gnomAD |
|
|
rs36038424 CA297757646 |
654 | R>I | No |
ClinGen Ensembl |
|
|
CA8931491 rs765879090 |
655 | Q>K | No |
ClinGen ExAC |
|
|
rs755641192 CA8931490 |
657 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA8931488 rs141971691 |
658 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1419522443 CA402166207 |
659 | G>D | No |
ClinGen TOPMed |
|
|
CA297757621 rs761542659 |
663 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761542659 CA8931487 |
663 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200881861 CA8931486 |
665 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8931485 rs147573655 |
666 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs901114814 CA297757613 |
667 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 669 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 670 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402165966 rs1369496159 |
671 | F>I | No |
ClinGen TOPMed |
|
|
rs1478302452 CA402165905 |
672 | D>E | No |
ClinGen gnomAD |
|
|
CA297757609 rs560370629 |
672 | D>G | No |
ClinGen Ensembl |
|
|
rs1460139993 CA402165873 |
674 | C>Y | No |
ClinGen TOPMed |
|
|
CA402165815 rs1474033265 |
678 | A>T | No |
ClinGen gnomAD |
|
|
CA297757593 rs888083198 |
679 | S>G | No |
ClinGen TOPMed |
|
|
CA402165779 rs1311147396 |
680 | P>R | No |
ClinGen TOPMed |
|
|
CA8931481 rs747122647 |
681 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402165765 rs1460260623 |
682 | S>R | No |
ClinGen gnomAD |
|
|
CA402165754 rs1246714782 |
684 | V>A | No |
ClinGen TOPMed |
|
|
CA8931479 rs772436707 |
685 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA402165691 rs1306603447 |
688 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 689 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs879233559 CA297757565 |
690 | S>I | No |
ClinGen Ensembl |
|
| TCGA novel | 690 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 691 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8931477 rs185952633 |
692 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402165572 rs1206882920 |
694 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 699 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378818265 CA402165477 |
700 | S>R | No |
ClinGen gnomAD |
|
|
CA402165482 rs1450445808 |
700 | S>T | No |
ClinGen gnomAD |
|
|
CA402165440 rs1331845150 |
702 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs140223587 CA8931474 |
703 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8931472 rs375353475 CA8931471 |
704 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs751254822 CA8931470 |
705 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs751254822 CA8931469 |
705 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs763856655 CA8931468 |
706 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402165289 rs1598915721 |
711 | L>H | No |
ClinGen Ensembl |
|
|
rs1446385301 CA402165291 |
711 | L>V | No |
ClinGen TOPMed |
|
|
rs752674071 CA8931466 |
712 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA402165274 rs1179693491 |
714 | G>R | No |
ClinGen gnomAD |
|
|
CA402165239 rs1567940552 |
719 | S>N | No |
ClinGen Ensembl |
|
|
rs940772217 CA297757489 |
719 | S>R | No |
ClinGen TOPMed |
|
|
rs2276374 CA297757484 |
720 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs2276374 VAR_030584 CA8931463 |
720 | T>M | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1243652942 CA402165226 |
721 | S>L | No |
ClinGen gnomAD |
|
|
CA8931461 rs762092387 |
721 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA297757476 rs181354924 |
722 | C>Y | No |
ClinGen 1000Genomes |
|
|
rs1598915655 CA402165212 |
724 | A>T | No |
ClinGen Ensembl |
|
|
CA8931460 rs774761265 |
726 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8931459 rs749621786 |
727 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8931457 rs780556108 |
727 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs780556108 CA402165192 |
727 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA8931458 rs749621786 |
727 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1372790960 | 728 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8931455 rs745343515 |
729 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs189761198 CA8931454 |
732 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756811267 CA402165157 |
733 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs756811267 CA8931453 |
733 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs371716218 CA8931451 |
738 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752446771 CA8931449 |
740 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA402165103 rs1320551223 |
741 | T>I | No |
ClinGen TOPMed |
|
|
rs1192557844 CA402165097 |
742 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 742 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759418672 CA8931447 |
743 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 744 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402165082 rs1267517098 |
745 | P>S | No |
ClinGen gnomAD |
|
|
CA8931446 rs753863463 |
748 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA402165054 rs1296501977 |
749 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 750 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA297757422 rs958909346 |
751 | A>P | No |
ClinGen Ensembl |
|
|
rs1567940470 CA402165035 |
752 | E>V | No |
ClinGen Ensembl |
|
|
rs767680713 CA8931445 |
755 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762039197 CA8931444 |
758 | G>R | No |
ClinGen ExAC |
|
|
CA8931443 rs367769605 |
760 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8931441 rs763332754 |
761 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769017568 CA8931442 |
761 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402164980 rs769017568 |
761 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775748728 CA8931440 |
763 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375410847 CA297757380 |
765 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8931437 rs199935566 |
766 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA402164939 rs1419703747 |
767 | Y>C | No |
ClinGen TOPMed |
|
|
CA402164931 rs1019963116 |
768 | F>S | No |
ClinGen Ensembl |
|
|
rs1019963116 CA297757377 |
768 | F>Y | No |
ClinGen Ensembl |
|
|
rs1299336182 CA402164927 |
769 | V>I | No |
ClinGen gnomAD |
|
|
rs1453741815 CA402164871 |
771 | K>M | No |
ClinGen gnomAD |
|
|
CA8931436 rs781709233 |
772 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8931435 rs368635402 |
772 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8931432 rs758008440 |
773 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1173879657 CA402164841 |
773 | M>T | No |
ClinGen TOPMed |
|
|
CA8931433 rs777348210 |
773 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402164820 rs1567940381 |
774 | Q>R | No |
ClinGen Ensembl |
|
|
rs1478515097 CA402164812 |
775 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8931431 rs752493831 |
776 | I>T | No |
ClinGen ExAC |
|
|
rs1239459882 CA402164758 |
777 | F>L | No |
ClinGen gnomAD |
|
|
CA8931428 rs754848156 |
780 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194389557 CA402164649 |
783 | F>Y | No |
ClinGen gnomAD |
|
|
rs766426013 CA8931426 COSM987751 |
786 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs529958611 CA8931422 |
788 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529958611 CA8931423 |
788 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142893989 CA297757321 |
792 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1382123542 CA402164481 |
794 | R>I | No |
ClinGen gnomAD |
|
|
CA402164448 rs1383474854 |
796 | C>S | No |
ClinGen gnomAD |
|
|
CA402164437 rs1598915394 |
797 | G>S | No |
ClinGen Ensembl |
|
|
CA402164421 rs1223919224 |
798 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8931419 rs759962809 |
799 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173799050 CA402164385 |
800 | S>A | No |
ClinGen gnomAD |
|
|
CA402164355 rs1466906572 |
801 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 801 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 802 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1006727197 CA297757315 |
805 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA402164276 rs1426618127 |
806 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 807 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8931415 rs768935188 |
809 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8931416 rs768935188 |
809 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460699193 CA402164248 |
810 | G>V | No |
ClinGen gnomAD |
|
|
CA297757311 rs958633376 |
811 | L>H | No |
ClinGen gnomAD |
|
|
CA402164238 rs1320322008 |
812 | S>F | No |
ClinGen gnomAD |
|
|
CA8931414 rs771648424 |
812 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA402164236 rs34795598 |
813 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778682257 CA8931412 |
813 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8931413 rs34795598 |
813 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 815 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8931411 rs377510141 |
818 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372903109 CA8931410 |
818 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402164189 rs1239685488 |
820 | L>P | No |
ClinGen gnomAD |
|
|
CA8931408 rs756156267 |
821 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8931409 rs780093390 COSM987748 |
821 | R>W | endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA402164174 rs1349342358 |
823 | I>F | No |
ClinGen TOPMed |
|
|
CA402164167 rs1448486080 |
824 | G>C | No |
ClinGen gnomAD |
|
|
CA8931407 rs750426066 |
826 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM987746 rs201764630 CA8931405 |
827 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs752859526 CA8931404 |
829 | V>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 829 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765498631 CA8931403 |
830 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112489964 CA297757278 |
838 | I>V | No |
ClinGen Ensembl |
|
|
rs957151037 CA297757262 |
843 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs761135937 CA8931399 |
844 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8931397 rs773814148 |
847 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA402164000 rs1242787436 |
849 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1567940133 CA402163993 |
850 | I>N | No |
ClinGen Ensembl |
|
|
rs538330286 CA297757240 |
853 | E>A | No |
ClinGen Ensembl |
|
|
CA8931394 rs773819738 |
853 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs538330286 CA297757239 |
853 | E>V | No |
ClinGen Ensembl |
|
|
CA8931393 rs768448120 |
857 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA8931392 rs146310451 |
858 | S>N | No |
ClinGen ESP ExAC TOPMed |
|
|
rs756022559 CA8931390 |
864 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA297757223 rs948248029 |
865 | I>R | No |
ClinGen TOPMed |
|
|
rs745788966 CA8931389 |
866 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA402163786 rs1158685651 |
866 | M>L | No |
ClinGen gnomAD |
|
|
rs1383330767 CA402163717 |
870 | N>D | No |
ClinGen gnomAD |
|
|
rs758345487 CA8931387 |
871 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs540520970 CA8931385 |
873 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1436330332 CA402163648 |
874 | P>A | No |
ClinGen gnomAD |
|
|
rs1436330332 CA402163645 |
874 | P>T | No |
ClinGen gnomAD |
|
|
rs1005141075 CA297757200 |
876 | I>M | No |
ClinGen Ensembl |
No associated diseases with Q9H706
1 regional properties for Q9H706
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CABIT domain | 32 - 308 | IPR025946 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| proline-rich region binding | Binding to a proline-rich region, i.e. a region that contains a high proportion of proline residues, in a protein. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to epidermal growth factor stimulus | 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 epidermal growth factor stimulus. |
| epidermal growth factor receptor signaling pathway | The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| positive regulation of cell division | Any process that activates or increases the frequency, rate or extent of cell division. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDPAPSLGCS | LKDVKWSSVA | VPLDLLVSTY | RLPQIARLDN | GECVEGLREN | DYLLIHSCRQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WTTITAHSLE | EGHYVIGPKI | EIPVHYAGQF | KLLEQDRDIK | EPVQYFNSVE | EVAKAFPERV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YVMEDITFNV | KVASGECNED | TEVYNITLCT | GDELTLMGQA | EILYAKTFKE | KSRLNTIFKK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IGKLNSISKL | GKGKMPCLIC | MNHRTNESIS | LPFQCKGRFS | TRSPLELQMQ | EGEHTIRNIV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EKTRLPVNVT | VPSPPPRNPY | DLHFIREGHR | YKFVNIQTKT | VVVCCVLRNN | KILPMHFPLH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LTVPKFSLPE | HLVKGESWPE | TLVHHWLGIC | QEQFDIDEYS | RAVRDVKTDW | NEECKSPKKG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RCSGHNHVPN | SLSYARDELT | QSFHRLSVCV | YGNNLHGNSE | VNLHGCRDLG | GDWAPFPHDI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LPYQDSGDSG | SDYLFPEASE | ESAGIPGKSE | LPYEELWLEE | GKPSHQPLTR | SLSEKNRCDQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FRGSVRSKCA | TSPLPIPGTL | GAAVKSSDTA | LPPPPVPPKS | EAVREECRLL | NAPPVPPRSA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KPLSTSPSIP | PRTVKPARQQ | TRSPSPTLSY | YSSGLHNISV | TKTDTNPSES | TPVSCYPCNR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VKTDSVDLKS | PFGSPSAEAV | SSRLSWPNHY | SGASESQTRS | DFLLDPSRSY | SYPRQKTPGT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PKRNCPAPFD | FDGCELLASP | TSPVTAEFSS | SVSGCPKSAS | YSLESTDVKS | LAAGVTKQST |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SCPALPPRAP | KLVEEKVASE | TSPLPLKIDG | AEEDPKSGSP | DLSEDQYFVK | KGMQDIFSAS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| YPFSSPLHLQ | LAPRSCGDGS | PWQPPADLSG | LSIEEVSKSL | RFIGLSEDVI | SFFVTEKIDG |
| 850 | 860 | 870 | |||
| NLLVQLTEEI | LSEDFKLSKL | QVKKIMQFIN | GWRPKI |