O75815
Gene name |
BCAR3 (NSP2, SH2D3B, UNQ271/PRO308) |
Protein name |
Breast cancer anti-estrogen resistance protein 3 |
Names |
Novel SH2-containing protein 2, SH2 domain-containing protein 3B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8412 |
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 O75815
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3T6A | X-ray | 240 A | A/B/C/D | 502-825 | PDB |
| AF-O75815-F1 | Predicted | AlphaFoldDB |
701 variants for O75815
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1455153382 CA341361729 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs201541851 CA956007 |
3 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs746582573 CA27164323 |
3 | A>T | No |
ClinGen Ensembl |
|
|
rs972946363 CA27164320 |
5 | K>I | No |
ClinGen TOPMed |
|
|
rs1227969371 CA341361705 |
6 | F>L | No |
ClinGen gnomAD |
|
|
rs151322895 CA956006 |
6 | F>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA956005 rs779717505 |
8 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435872626 CA341361680 |
10 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1365929176 CA341361677 |
11 | R>K | No |
ClinGen gnomAD |
|
|
rs755722083 CA956004 |
12 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs745540392 CA956003 |
13 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA956002 rs772621684 |
14 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756756546 CA341361631 CA341361632 |
17 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341361630 rs1170005444 |
18 | Q>K | No |
ClinGen gnomAD |
|
|
rs751128356 CA955999 |
19 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA341361621 rs751128356 |
19 | F>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 22 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA955997 rs371020036 |
24 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758838087 CA955996 |
25 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA341361587 rs1480531993 |
25 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs988166056 CA27164318 |
27 | L>I | No |
ClinGen Ensembl |
|
|
CA955995 rs367834080 |
28 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA27164317 rs867162991 |
31 | R>G | No |
ClinGen TOPMed |
|
|
CA955991 rs766770453 |
35 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341361522 rs766770453 |
35 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341361511 rs1217440680 |
36 | E>D | No |
ClinGen gnomAD |
|
|
CA27164315 rs974770735 |
36 | E>K | No |
ClinGen TOPMed |
|
|
rs144928860 CA955990 |
37 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144928860 CA341361506 |
37 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA955989 rs111346378 |
38 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA955988 COSM913415 rs202034375 |
38 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1368389547 CA341361490 |
40 | D>G | No |
ClinGen gnomAD |
|
|
rs1571033426 CA341361492 |
40 | D>H | No |
ClinGen Ensembl |
|
|
rs775304793 CA955986 |
41 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341361485 rs1309479901 |
41 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs775304793 CA955987 |
41 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769547395 CA341361447 |
46 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA955984 rs769547395 |
46 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA955982 rs780810028 |
47 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770584562 CA955980 |
48 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA341361430 rs1206172281 COSM198554 |
49 | G>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA341361427 rs1571033349 |
50 | T>P | No |
ClinGen Ensembl |
|
|
CA341361421 rs1483027319 |
51 | L>I | No |
ClinGen gnomAD |
|
|
CA341361407 rs777183149 |
53 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs777183149 CA955978 |
53 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746465101 CA955979 |
53 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA341361399 COSM1667714 rs1218493045 |
54 | K>N | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA341361394 rs1227639691 |
55 | K>R | No |
ClinGen gnomAD |
|
|
CA955977 rs758891472 |
57 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA341361374 rs1203867650 |
58 | P>L | No |
ClinGen TOPMed |
|
|
CA341361367 rs1456108184 |
59 | P>L | No |
ClinGen TOPMed |
|
|
CA955976 rs753125244 |
59 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755388139 CA955974 |
60 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA955973 rs754308137 |
60 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA955972 rs766647597 |
61 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760982104 CA341361350 |
62 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534916474 CA27164312 |
63 | S>F | No |
ClinGen gnomAD |
|
|
rs139529955 CA341361344 |
64 | C>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA27164311 rs139529955 |
64 | C>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA955970 rs750476398 |
64 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs767514429 CA955969 |
68 | S>R | No |
ClinGen ExAC |
|
|
CA341361290 rs1470442522 |
71 | G>S | No |
ClinGen TOPMed |
|
|
CA341361276 rs1467283654 |
73 | L>F | No |
ClinGen TOPMed |
|
|
CA955968 rs762001108 |
73 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141721897 CA955964 |
75 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141721897 CA955966 |
75 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA955965 rs141721897 |
75 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA955963 rs563397599 |
77 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA27164308 rs749596481 |
80 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs771455481 CA955960 COSM1184540 |
80 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA341361232 rs1315683385 |
81 | Q>* | No |
ClinGen TOPMed |
|
|
CA341361230 rs1557649986 |
81 | Q>R | No |
ClinGen Ensembl |
|
|
rs370836321 CA955959 |
83 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1397361066 CA341361213 |
84 | P>T | No |
ClinGen gnomAD |
|
|
rs755552707 CA955957 |
87 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341361178 rs1319259420 |
89 | G>C | No |
ClinGen gnomAD |
|
|
CA955956 rs754187653 |
90 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1035610378 CA27164306 |
90 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA955955 rs780596160 |
91 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs756308329 COSM913414 CA955954 |
94 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA955953 rs750587834 |
95 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs112584760 CA955952 |
96 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1247526337 CA341361123 |
97 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1247526337 CA341361122 |
97 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 97 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs113071736 CA955950 |
98 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138811422 CA955951 |
98 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776366339 CA341361105 |
100 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA955948 rs201873210 |
100 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776366339 CA955947 |
100 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA955945 COSM1344976 rs370899092 |
101 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA955944 rs772732357 |
104 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341360850 rs1375850965 |
108 | P>R | No |
ClinGen gnomAD |
|
|
CA955922 rs773949793 |
108 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA955921 rs149161122 |
109 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150434867 CA955920 |
111 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341360818 rs1250727188 |
113 | P>L | No |
ClinGen gnomAD |
|
|
rs1482429086 CA341360821 |
113 | P>S | No |
ClinGen Ensembl |
|
|
rs1190871196 CA341360816 |
114 | T>A | No |
ClinGen TOPMed |
|
|
rs1483808231 CA341360785 |
118 | V>A | No |
ClinGen gnomAD |
|
|
CA341360783 rs1273145590 |
119 | K>Q | No |
ClinGen gnomAD |
|
|
CA341360780 rs1266024909 |
119 | K>T | No |
ClinGen TOPMed |
|
|
rs1216288045 CA341359767 |
126 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA955878 rs759011238 |
126 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1216288045 CA341359768 |
126 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA27155536 rs879059951 |
127 | M>L | No |
ClinGen TOPMed |
|
|
rs777194461 CA955877 |
127 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA341359749 rs1367133941 |
128 | D>E | No |
ClinGen gnomAD |
|
|
CA27155535 rs941343350 |
130 | T>I | No |
ClinGen gnomAD |
|
|
rs1570944412 CA341359740 |
130 | T>P | No |
ClinGen Ensembl |
|
|
CA955874 rs200280259 |
132 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA27155534 rs1047131934 |
136 | K>E | No |
ClinGen Ensembl |
|
|
CA955872 rs748421416 |
137 | E>K | No |
ClinGen ExAC |
|
|
CA955871 rs779051725 |
141 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA341359666 rs779051725 |
141 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs768748770 CA955870 |
141 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs749394399 CA955869 |
142 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA341359650 rs1188622769 |
144 | L>V | No |
ClinGen TOPMed |
|
|
CA341359643 rs1482173419 |
145 | S>N | No |
ClinGen gnomAD |
|
|
rs757265824 CA955867 |
146 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1308077174 CA341359631 |
147 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA955865 rs777735238 |
149 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758318530 CA955864 |
150 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA955862 rs768094406 |
150 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA955863 rs768094406 |
150 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754501424 CA955861 |
151 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 153 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA955857 rs368469194 |
156 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368839525 CA955855 |
157 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374784683 CA955854 |
158 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA955853 rs147932660 |
158 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768817148 CA341359547 |
159 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA955850 rs375150823 |
161 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 161 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341359539 rs1252925845 |
161 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA341359443 rs1363598025 |
163 | V>L | No |
ClinGen TOPMed |
|
|
rs763106218 CA955832 |
164 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA341359417 rs1382802813 |
167 | L>V | No |
ClinGen gnomAD |
|
|
CA341359410 rs1311732508 |
168 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 169 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320491741 CA341359397 |
170 | R>* | Variant assessed as Somatic; 5.004e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA955831 rs775906391 |
170 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387636759 CA341359383 |
172 | G>D | No |
ClinGen gnomAD |
|
|
rs1289790834 CA341359379 |
173 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA27155226 rs999870732 |
176 | V>D | No |
ClinGen gnomAD |
|
|
rs769965474 CA955830 |
177 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA955829 rs142666440 |
177 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341359317 rs1445317270 |
178 | D>E | No |
ClinGen gnomAD |
|
|
rs1300664764 CA341359305 |
179 | S>F | No |
ClinGen gnomAD |
|
|
CA955828 rs773271415 |
181 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA27155225 rs773271415 |
181 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA955826 rs558886347 |
182 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778600216 CA955825 |
183 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs768301429 CA955824 |
184 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1205479873 CA341359252 |
184 | G>R | No |
ClinGen gnomAD |
|
|
CA955823 rs748914550 |
185 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 188 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA27155224 rs1018397481 |
188 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341359174 rs1296176516 |
189 | T>I | No |
ClinGen gnomAD |
|
|
rs1225932897 CA341359163 |
190 | C>Y | No |
ClinGen gnomAD |
|
|
CA955821 rs755613955 |
191 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA341359088 rs1422446849 |
195 | L>F | No |
ClinGen TOPMed |
|
|
rs200436960 CA341359074 |
196 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200436960 CA955820 |
196 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202125199 CA955819 |
196 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341359061 rs1305200266 |
197 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA341358995 rs1370058718 |
201 | I>L | No |
ClinGen gnomAD |
|
|
rs375478012 CA955816 |
203 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751903716 CA955817 |
203 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1247935069 CA341358955 |
205 | V>F | No |
ClinGen TOPMed |
|
| TCGA novel | 206 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430666938 CA341358948 |
206 | L>R | No |
ClinGen gnomAD |
|
|
rs142078116 CA955815 |
207 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000966756 rs113172289 CA955812 |
210 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs113172289 CA955813 |
210 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA955811 rs776858691 |
211 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 212 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341358876 rs1448817125 |
213 | S>G | No |
ClinGen TOPMed |
|
|
rs772002067 CA955810 |
214 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769831657 CA955809 |
214 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA27155222 rs769831657 |
214 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139298422 CA27155221 |
215 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139298422 CA955807 |
215 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA955806 rs749146552 |
216 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA341358806 rs1233087675 |
218 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA955804 rs769449600 |
219 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA955803 rs376886380 |
219 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA955802 rs190069670 |
220 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA955801 rs756840770 |
221 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778412538 CA955799 |
222 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA955800 rs751980713 |
222 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341358760 rs751980713 |
222 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341358704 rs1570939470 |
225 | D>A | No |
ClinGen Ensembl |
|
|
rs61752468 CA955798 |
225 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341358709 rs61752468 |
225 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1281224597 CA341358660 |
228 | P>L | No |
ClinGen TOPMed |
|
|
rs148087483 CA955795 |
229 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341358640 rs1201293984 |
230 | L>R | No |
ClinGen gnomAD |
|
|
rs1480594961 CA341358635 CA341358636 |
231 | V>L | No |
ClinGen gnomAD |
|
|
CA27155219 rs925862406 |
232 | R>C | No |
ClinGen gnomAD |
|
|
CA955792 rs201705203 |
232 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774148679 CA341358616 |
233 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs774148679 CA955791 |
233 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs35588942 CA955790 |
233 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA27155218 rs986897156 |
234 | Y>C | No |
ClinGen TOPMed |
|
|
rs376976363 CA955788 |
235 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769388241 CA955787 |
236 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs75635406 CA27155217 |
237 | N>T | No |
ClinGen Ensembl |
|
|
CA955786 rs201358526 |
238 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341358561 rs201358526 |
238 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA955785 rs137969427 |
238 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA955783 rs371841836 |
239 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs770345633 CA955784 |
239 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178412716 CA341358528 |
241 | I>M | No |
ClinGen gnomAD |
|
|
CA341358530 rs1403803649 |
241 | I>S | No |
ClinGen gnomAD |
|
|
rs1451888176 CA341358538 |
241 | I>V | No |
ClinGen gnomAD |
|
|
CA341358524 rs1470130604 |
242 | S>A | No |
ClinGen gnomAD |
|
|
rs778087104 CA955782 |
243 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs758983074 CA955781 |
243 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341358471 rs1363914670 |
246 | G>D | No |
ClinGen gnomAD |
|
|
CA955778 rs150484354 |
247 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753973727 CA955777 |
248 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1012322279 CA27155215 |
249 | I>T | No |
ClinGen TOPMed |
|
|
CA955775 rs756132846 |
256 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374296101 CA27155213 |
257 | V>M | No |
ClinGen ESP |
|
|
CA341358338 rs1283735442 |
258 | P>R | No |
ClinGen gnomAD |
|
|
rs763870383 CA955773 |
258 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA955770 rs139230782 |
260 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775455387 CA955771 |
260 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341358325 rs1453221779 |
261 | C>Y | No |
ClinGen gnomAD |
|
|
CA955769 rs759394550 |
265 | H>R | No |
ClinGen ExAC |
|
|
CA955768 rs776136824 |
267 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746439935 CA955766 |
268 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA955765 rs747331253 |
269 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194402535 CA341358264 |
270 | P>L | No |
ClinGen TOPMed |
|
|
CA341358262 rs1442243031 |
271 | G>S | No |
ClinGen gnomAD |
|
|
rs748639520 CA955763 |
272 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1184785807 CA341358250 |
273 | A>T | No |
ClinGen gnomAD |
|
|
rs139249000 CA341358242 |
274 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA955761 rs139249000 |
274 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs62001028 CA955762 |
274 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749717638 CA955760 |
275 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 276 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA955759 rs2137623 |
279 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA27155210 rs910941559 |
281 | G>R | No |
ClinGen TOPMed |
|
|
rs756361530 CA955758 |
283 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA341358187 rs1220465171 |
283 | P>S | No |
ClinGen gnomAD |
|
|
CA955754 rs752627611 |
288 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA27155209 rs890551701 |
288 | R>S | No |
ClinGen Ensembl |
|
|
CA955753 rs765219365 |
290 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1345497031 CA341358142 |
290 | S>R | No |
ClinGen gnomAD |
|
|
CA955752 rs143405033 |
290 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200443024 CA955751 |
291 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765911755 CA955750 |
292 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA341358121 rs1366941246 |
294 | G>S | No |
ClinGen gnomAD |
|
|
CA341358112 rs1163643323 |
295 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs115932818 CA955748 |
296 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341358100 rs1570938913 |
297 | Q>R | No |
ClinGen Ensembl |
|
|
CA341358089 rs1188738667 |
299 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA955747 rs367652107 |
299 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA27155208 rs925831275 |
300 | E>K | No |
ClinGen Ensembl |
|
|
rs761473184 CA341358058 |
303 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372046471 CA955743 |
306 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA955742 rs780497082 |
307 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368488209 CA955741 |
307 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746072280 CA955740 |
308 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341274969 rs1291857084 |
313 | E>G | No |
ClinGen gnomAD |
|
|
rs1350307820 CA341274955 |
315 | S>T | No |
ClinGen TOPMed |
|
|
rs1405974333 CA341274946 |
316 | G>D | No |
ClinGen gnomAD |
|
|
rs777856449 CA955715 |
318 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1235363247 CA341274924 |
319 | P>L | No |
ClinGen TOPMed |
|
|
CA955713 rs144882670 |
320 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 320 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779919718 CA955712 |
321 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs767210703 CA955710 |
322 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 323 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341274905 rs1458212435 |
323 | D>Y | No |
ClinGen gnomAD |
|
|
CA955708 rs761587439 |
324 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs751064191 CA955707 |
325 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs763637477 CA955706 |
327 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341274866 rs1468429424 |
328 | R>T | No |
ClinGen TOPMed |
|
|
CA955705 rs762437239 |
329 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA955704 rs776052693 |
332 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs765677379 CA955703 |
333 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1240232898 CA341274835 |
333 | L>P | No |
ClinGen gnomAD |
|
|
rs765677379 CA341274838 |
333 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1286165813 CA341274820 |
335 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341274816 rs1381317048 |
336 | H>P | No |
ClinGen gnomAD |
|
|
CA955702 rs371110361 |
338 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA26831700 rs965755739 |
340 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs777014697 CA955701 |
340 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA341274788 rs777014697 |
340 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1288632251 CA341274781 |
341 | Y>S | No |
ClinGen gnomAD |
|
|
rs773458842 CA955698 |
343 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747213509 CA955699 |
343 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA955697 rs772192196 |
344 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs781319547 CA955673 |
345 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1034222794 CA26830968 |
346 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA26830937 rs1002786487 |
346 | C>W | No |
ClinGen TOPMed |
|
|
rs201005104 CA955672 |
346 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341274462 rs1570931037 |
347 | K>E | No |
ClinGen Ensembl |
|
|
CA341274460 rs1234418599 |
347 | K>R | No |
ClinGen TOPMed |
|
|
rs1251165337 CA341274454 |
348 | L>V | No |
ClinGen TOPMed |
|
|
rs546279583 CA955671 |
349 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs183057886 CA955669 |
350 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA955668 rs752199717 |
353 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs143458770 CA955665 |
354 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1305103844 CA341274414 |
355 | V>M | No |
ClinGen gnomAD |
|
|
CA26830897 rs945781350 |
356 | D>A | No |
ClinGen Ensembl |
|
|
rs142961077 CA955664 RCV001812396 |
358 | S>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1395788779 CA341274392 |
358 | S>R | No |
ClinGen gnomAD |
|
|
CA26830895 rs988245328 |
359 | P>S | No |
ClinGen Ensembl |
|
|
rs760974846 CA955663 |
360 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767740925 CA955661 |
361 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266337338 CA341274356 |
364 | P>H | No |
ClinGen gnomAD |
|
|
CA341274359 rs1479944849 |
364 | P>T | No |
ClinGen gnomAD |
|
|
CA341274337 rs1451700311 |
367 | R>K | No |
ClinGen gnomAD |
|
|
CA341274330 rs763193150 |
368 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA955657 rs763193150 |
368 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768825761 CA955658 |
368 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140733181 CA955654 |
371 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA955653 rs777448396 |
372 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969789871 CA341274301 |
373 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs969789871 CA26830786 |
373 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs910922440 CA26830776 |
374 | L>V | No |
ClinGen TOPMed |
|
|
CA341274286 rs1437280962 |
375 | S>R | No |
ClinGen gnomAD |
|
|
CA341274285 rs1220868201 |
376 | P>S | No |
ClinGen TOPMed |
|
|
CA955652 rs771948696 |
380 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA26830774 rs779491839 |
380 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA341274255 rs1389652235 |
381 | R>T | No |
ClinGen gnomAD |
|
|
CA341274249 rs1331877984 |
382 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1331877984 CA341274250 |
382 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA955647 rs780475040 |
386 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM913411 CA955648 rs780475040 |
386 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA341274215 rs1174002822 |
387 | R>S | No |
ClinGen gnomAD |
|
|
CA341274211 rs1362765321 |
388 | A>G | No |
ClinGen gnomAD |
|
|
CA955646 rs756648236 |
388 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA955645 CA341274209 rs375645584 |
389 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA26830696 rs934253399 |
390 | E>G | No |
ClinGen TOPMed |
|
|
rs767751704 CA955644 |
391 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1410207386 CA341274185 |
393 | R>K | No |
ClinGen Ensembl |
|
|
rs1570930663 CA341274168 |
396 | D>N | No |
ClinGen Ensembl |
|
|
CA955643 rs762278739 |
397 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs751726491 CA955642 |
397 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 399 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 400 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341274114 rs1201285560 |
403 | P>L | No |
ClinGen gnomAD |
|
|
rs1265341111 CA341274117 |
403 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1265341111 CA341274119 |
403 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA955641 rs372966690 |
404 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763058568 CA955640 |
405 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1377668912 CA341274098 |
406 | K>R | No |
ClinGen gnomAD |
|
|
CA955639 rs775742791 |
407 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs28446112 CA26830660 |
408 | C>R | No |
ClinGen Ensembl |
|
|
CA341274061 rs1015042958 |
410 | V>L | No |
ClinGen gnomAD |
|
|
CA26830654 rs1015042958 |
410 | V>M | No |
ClinGen gnomAD |
|
|
rs141567715 CA955636 |
411 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341274047 rs141567715 |
411 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200778656 CA955637 |
411 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA955634 rs771756224 |
414 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748029100 CA955633 |
415 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs148367926 CA955632 |
417 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341273905 rs1443287375 |
422 | W>* | No |
ClinGen gnomAD |
|
|
CA341273899 rs1239630194 |
423 | L>F | No |
ClinGen gnomAD |
|
|
CA955630 rs748759310 |
423 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA955628 rs140209686 |
424 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA955627 rs140209686 |
424 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341273844 rs1557843987 |
427 | A>S | No |
ClinGen Ensembl |
|
|
rs1380479060 CA341273813 |
429 | Y>* | No |
ClinGen gnomAD |
|
|
CA341273791 rs1448480679 |
431 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA341273797 rs1285809494 |
431 | E>K | No |
ClinGen gnomAD |
|
|
rs1484630696 CA341273753 |
434 | P>A | No |
ClinGen TOPMed |
|
|
CA26830561 rs867634610 |
434 | P>L | No |
ClinGen Ensembl |
|
|
CA341273744 rs1360650285 |
434 | P>L | No |
ClinGen gnomAD |
|
|
CA341273740 rs1162350558 |
435 | A>P | No |
ClinGen gnomAD |
|
|
CA955621 rs374393884 |
435 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758714430 CA955620 |
438 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA341273685 rs1475305257 |
439 | G>V | No |
ClinGen gnomAD |
|
|
rs1424417728 CA341273673 |
440 | C>F | No |
ClinGen TOPMed |
|
|
rs368993972 CA955618 |
441 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA955617 rs759724227 |
443 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA341273635 rs1488725535 |
443 | G>R | No |
ClinGen gnomAD |
|
|
rs767507738 CA955615 |
444 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA341273613 rs761451887 |
445 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA955614 rs761451887 |
445 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26830480 rs928174348 |
446 | L>P | No |
ClinGen Ensembl |
|
|
rs768251210 CA955612 |
448 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA341273545 rs775164598 |
450 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775164598 CA955610 |
450 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA955609 rs547694353 |
451 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341273502 rs1302061646 |
453 | S>R | No |
ClinGen gnomAD |
|
|
CA341273491 rs1402573815 |
454 | H>R | No |
ClinGen gnomAD |
|
|
rs781484698 CA955608 |
455 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs781484698 CA955607 |
455 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 456 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753999386 CA955606 |
456 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341273463 rs1390308622 |
457 | L>R | No |
ClinGen TOPMed |
|
|
CA26830421 rs766452742 |
459 | T>I | No |
ClinGen Ensembl |
|
|
CA955605 rs140309627 |
463 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA955604 VAR_050689 rs12062278 |
464 | E>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs758871826 CA955603 |
465 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA341273373 rs1268446489 |
466 | P>A | No |
ClinGen gnomAD |
|
|
rs1197472599 CA341273365 |
466 | P>L | No |
ClinGen gnomAD |
|
|
CA341273359 rs1489520972 |
467 | G>D | No |
ClinGen gnomAD |
|
|
rs1309473454 CA341273363 |
467 | G>S | No |
ClinGen gnomAD |
|
|
rs1211984033 CA341273352 |
468 | P>S | No |
ClinGen TOPMed |
|
|
rs138527879 CA955600 |
469 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA955599 rs138527879 |
469 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765608888 CA955601 |
469 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437142951 CA341273339 |
470 | N>H | No |
ClinGen gnomAD |
|
|
rs1255984468 CA341273311 |
472 | G>C | No |
ClinGen gnomAD |
|
|
rs1220233961 CA341273306 |
472 | G>V | No |
ClinGen gnomAD |
|
|
CA955598 rs144741377 |
473 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA955597 rs762737725 |
475 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA341273283 rs1176100499 |
475 | Y>H | No |
ClinGen gnomAD |
|
|
rs1353262395 CA341273233 |
479 | D>V | No |
ClinGen gnomAD |
|
|
rs774324851 CA955596 |
480 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA955595 rs149396478 |
480 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA955594 rs550240881 |
482 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341273180 rs1178774267 |
484 | E>K | No |
ClinGen TOPMed |
|
|
CA341273165 rs1360237433 |
485 | R>K | No |
ClinGen TOPMed |
|
|
rs769501013 CA955592 |
486 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341273147 rs1328647919 |
487 | W>R | No |
ClinGen TOPMed |
|
|
rs745328827 CA955591 |
488 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA955590 rs776226561 |
490 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA955588 rs747484719 |
492 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA341273070 rs1557843569 |
494 | M>I | No |
ClinGen Ensembl |
|
|
CA955587 rs778488596 |
494 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1365063005 CA341273063 |
495 | E>Q | No |
ClinGen TOPMed |
|
|
CA341273027 rs772548512 CA955586 |
497 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1301436929 CA341272945 |
501 | K>R | No |
ClinGen gnomAD |
|
|
CA341272935 rs1222706772 |
502 | G>R | No |
ClinGen gnomAD |
|
|
CA26830293 rs769691162 |
504 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1570929695 CA341272906 |
504 | F>V | No |
ClinGen Ensembl |
|
|
rs1448121249 CA341272895 |
505 | V>M | No |
ClinGen gnomAD |
|
|
rs375604944 CA955583 |
506 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341272869 rs1467827689 |
507 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs968639421 CA26830275 |
509 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA955580 rs751496023 |
512 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA955579 rs751496023 |
512 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561393483 CA26830254 |
513 | S>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA341272775 rs1193262953 |
514 | S>A | No |
ClinGen TOPMed |
|
|
CA955578 rs138525821 |
514 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA955577 rs762678929 |
515 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1179896048 CA341272757 |
515 | F>L | No |
ClinGen gnomAD |
|
|
rs752519228 CA955576 |
517 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs764747428 CA955575 |
518 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA955574 rs759203304 |
518 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA955572 rs200907769 |
519 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA341272717 rs1210857171 |
520 | F>L | No |
ClinGen gnomAD |
|
|
rs1241570587 CA341272714 |
520 | F>S | No |
ClinGen gnomAD |
|
|
rs1020163496 CA26830208 |
522 | S>P | No |
ClinGen TOPMed |
|
|
CA955571 rs776565886 |
527 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26830179 rs776565886 |
527 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA955570 rs367828594 |
528 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA955569 rs147997848 |
529 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1288533987 CA341272614 |
531 | P>S | No |
ClinGen gnomAD |
|
|
rs748486479 CA955568 |
534 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs905626282 CA26830172 |
534 | T>S | No |
ClinGen Ensembl |
|
|
CA955566 rs768953701 |
536 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200616305 CA26830149 |
536 | M>T | No |
ClinGen 1000Genomes |
|
|
rs768953701 CA341272565 |
536 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199987558 CA955565 |
539 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143508660 CA26830148 |
539 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs199987558 CA341272530 |
539 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA955564 rs780208352 |
540 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1185616705 CA341272513 |
541 | K>E | No |
ClinGen gnomAD |
|
|
rs777621474 CA955561 |
544 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1264219096 CA341272446 |
546 | N>D | No |
ClinGen gnomAD |
|
|
CA955560 rs758352871 |
547 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765048777 CA955558 |
548 | D>A | No |
ClinGen ExAC gnomAD |
|
|
COSM913409 CA341272409 rs1557843298 |
548 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA955556 rs753513831 |
549 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA955553 rs772883889 |
550 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs772662965 CA955552 |
551 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1459354785 CA341272332 |
552 | I>V | No |
ClinGen gnomAD |
|
|
CA955551 rs762390483 |
553 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA955550 rs774763104 |
554 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1425332341 CA341272294 |
554 | Q>R | No |
ClinGen gnomAD |
|
|
rs749674466 CA955549 CA341272255 |
555 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA955547 rs575587868 |
556 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781225763 CA955544 |
557 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 557 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745898120 CA955545 |
557 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA955543 rs757365063 |
558 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA955541 rs778771461 |
559 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217184422 CA341272173 |
559 | M>L | No |
ClinGen gnomAD |
|
|
CA955542 rs748110712 |
559 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116545384 CA955540 |
561 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1329463591 CA341272092 |
561 | C>W | No |
ClinGen gnomAD |
|
|
CA955527 rs776904312 |
567 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26825902 rs150839082 |
567 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA341271402 rs1335187874 |
572 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA341271403 rs1335187874 |
572 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA341271389 CA955526 rs770983286 |
573 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA955525 rs747069441 |
574 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA955524 rs778839573 |
574 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754900116 CA955523 |
575 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs764367470 | 575 | R>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756016235 CA955519 |
577 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779976382 CA955520 |
577 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26825884 rs1045069031 |
577 | M>T | No |
ClinGen Ensembl |
|
|
rs779976382 CA955521 |
577 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767337640 CA955518 |
578 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs767337640 CA955517 |
578 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA955515 rs751035398 |
580 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1239236197 CA341271305 |
587 | T>N | No |
ClinGen gnomAD |
|
|
rs1570918810 CA341271308 |
587 | T>P | No |
ClinGen Ensembl |
|
|
rs200246434 CA955513 |
589 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 589 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765579769 CA955511 |
591 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765579769 CA341271280 |
591 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776017261 CA955512 |
591 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759950494 CA955510 |
592 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs17110107 CA26825848 VAR_050690 |
593 | Q>H | No |
ClinGen UniProt TOPMed dbSNP |
|
|
CA955509 rs776773073 |
595 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA341271237 rs1457195095 |
595 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1457195095 CA341271234 |
595 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA955506 rs536719438 |
599 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA955507 rs760765672 |
599 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA955505 rs772245403 |
601 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs146397531 CA955482 |
602 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA955481 rs137906211 |
603 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341270169 rs1291848166 |
604 | T>A | No |
ClinGen gnomAD |
|
|
CA341270170 rs1291848166 |
604 | T>P | No |
ClinGen gnomAD |
|
|
rs777540480 CA955479 |
605 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs746635877 CA955480 |
605 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA955477 rs779348233 |
607 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs369665872 CA955478 |
607 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755495708 CA955475 |
608 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 609 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341270122 rs1375835945 |
612 | D>H | No |
ClinGen TOPMed |
|
|
rs1410751012 CA341270112 |
613 | I>V | No |
ClinGen TOPMed |
|
|
CA26822788 rs754388397 |
617 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754388397 CA955473 |
617 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341270082 rs1173139089 |
618 | G>D | No |
ClinGen gnomAD |
|
|
CA26822762 rs529105962 |
618 | G>S | No |
ClinGen 1000Genomes |
|
|
CA341270070 rs1189546810 |
620 | L>S | No |
ClinGen gnomAD |
|
|
CA341270057 rs1278680477 |
622 | D>N | No |
ClinGen TOPMed |
|
|
rs1557836909 CA341270050 |
623 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs146027367 CA955469 |
623 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000883008 CA955468 rs147633962 |
624 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA341270019 rs1385494560 |
628 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs759525792 CA955464 |
634 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA341269942 CA955462 rs139804620 |
639 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1275994277 CA341269944 |
639 | D>G | No |
ClinGen gnomAD |
|
|
CA341269948 rs1481357243 |
639 | D>N | No |
ClinGen TOPMed |
|
|
CA341269929 rs1375203849 |
641 | M>I | No |
ClinGen gnomAD |
|
|
rs1409408993 CA341269935 |
641 | M>V | No |
ClinGen TOPMed |
|
|
rs1459671189 CA341269910 |
644 | L>F | No |
ClinGen gnomAD |
|
|
RCV000950609 CA955461 rs146602562 |
645 | Y>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA341269904 rs1168429762 |
645 | Y>H | No |
ClinGen TOPMed |
|
|
rs1466395168 CA341269897 |
646 | S>A | No |
ClinGen gnomAD |
|
|
rs1358809609 CA341269880 |
648 | S>L | No |
ClinGen gnomAD |
|
|
CA341269876 rs1174152760 |
649 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA341269874 rs1174152760 |
649 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA955460 rs372252150 |
650 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA955459 rs575537040 |
651 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747604227 CA955458 |
654 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA955457 rs368481630 |
654 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 655 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 655 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341269816 rs1407276647 |
658 | Q>P | No |
ClinGen TOPMed |
|
|
CA341268608 rs1342503689 |
663 | E>D | No |
ClinGen gnomAD |
|
|
rs1296365221 CA341268603 |
664 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1382771517 CA341268601 |
664 | K>R | No |
ClinGen gnomAD |
|
|
rs760635585 CA955418 |
665 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761657137 CA955415 |
668 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169575759 CA341268557 |
668 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762330740 CA341268541 |
670 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA955412 rs762330740 |
670 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs139715406 CA955413 |
670 | R>W | No |
ClinGen ESP ExAC |
|
|
CA955411 rs775087565 |
671 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA955410 rs769238156 |
673 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341268502 rs1570903124 |
674 | T>P | No |
ClinGen Ensembl |
|
|
rs374978077 CA955409 |
675 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA341268480 rs1204326953 |
676 | T>A | No |
ClinGen TOPMed |
|
|
CA955407 rs771362553 |
678 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs925263186 CA26819814 |
680 | Y>C | No |
ClinGen TOPMed |
|
|
CA955406 rs747382431 |
681 | E>Q | No |
ClinGen ExAC |
|
|
rs1232637474 CA341268376 |
685 | K>R | No |
ClinGen gnomAD |
|
|
CA341268378 rs1232637474 |
685 | K>T | No |
ClinGen gnomAD |
|
|
rs1329369080 CA341268341 |
688 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 692 | H>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420291396 CA341268302 |
693 | E>K | No |
ClinGen TOPMed |
|
|
CA341268294 rs1299150564 |
694 | G>S | No |
ClinGen gnomAD |
|
|
CA955391 rs758980462 |
697 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148402464 CA955390 |
698 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341268248 rs1433250601 |
699 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 705 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA955389 rs771595802 |
705 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA341268202 rs1360301540 |
706 | S>A | No |
ClinGen TOPMed |
|
|
CA955387 rs763985526 |
707 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM228268 CA955385 rs748394785 |
708 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA955384 rs779059824 |
711 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1487971464 CA341268166 |
712 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341268168 rs1211692402 |
712 | P>S | No |
ClinGen gnomAD |
|
|
rs1237828290 CA341268163 |
713 | L>F | No |
ClinGen gnomAD |
|
|
CA955382 rs753923301 |
714 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA341268152 rs1279907617 |
715 | T>A | No |
ClinGen gnomAD |
|
|
CA341268149 rs145893320 |
715 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA955381 rs145893320 |
715 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145893320 CA341268150 |
715 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143581051 CA26819510 |
718 | E>D | No |
ClinGen ESP gnomAD |
|
|
CA955379 COSM1238292 rs751548960 |
719 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA26819491 rs763920350 |
719 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA955378 rs763920350 COSM1246012 |
719 | R>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1249750305 CA341268115 |
720 | Q>H | No |
ClinGen TOPMed |
|
|
rs1452940862 CA341268070 |
727 | T>S | No |
ClinGen TOPMed |
|
|
CA955374 rs759045700 COSM3401095 COSM3401096 |
728 | D>N | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA955372 rs766032359 |
729 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377698383 CA955373 |
729 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA955370 rs761229587 |
731 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188864980 COSM1344970 CA341268044 |
731 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA955369 RCV000961292 rs78349214 |
733 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA26819431 rs957157828 |
734 | D>N | No |
ClinGen Ensembl |
|
|
CA955366 rs748477671 |
737 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA955365 rs774570055 |
738 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1353929747 CA341267972 |
740 | M>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 740 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA955363 rs768794679 |
742 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26819408 rs200578746 |
745 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs749322059 CA955362 |
745 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs532034172 CA955361 |
747 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341267930 rs1361168549 |
747 | A>T | No |
ClinGen TOPMed |
|
|
CA341267928 rs532034172 |
747 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341267926 rs1182583496 |
748 | R>* | No |
ClinGen gnomAD |
|
|
CA341267925 rs1275748004 |
748 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA341267924 rs1275748004 |
748 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA955360 rs756227345 |
749 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA341267908 rs1346312478 |
750 | M>I | No |
ClinGen gnomAD |
|
|
rs746946088 CA955359 |
750 | M>T | No |
ClinGen ExAC |
|
|
CA955358 rs777631950 |
751 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs185411561 CA26819382 |
751 | A>V | No |
ClinGen 1000Genomes |
|
|
rs201785778 CA955355 |
752 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3952739 rs201785778 CA955356 COSM3952738 |
752 | E>Q | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs754655432 CA955354 |
754 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs919712226 CA26819369 |
755 | D>A | No |
ClinGen TOPMed |
|
|
CA955353 rs753581756 |
756 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA955351 rs140641625 RCV001812916 |
758 | R>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs765980154 CA955352 |
758 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242655091 CA341267861 |
759 | M>L | No |
ClinGen gnomAD |
|
|
rs773794690 CA955350 |
760 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA341267840 rs1213998119 |
761 | A>V | No |
ClinGen gnomAD |
|
|
CA955348 rs762201005 |
762 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs774605474 CA26819344 |
764 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341267816 rs1361981931 |
765 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 766 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149846383 CA955324 |
770 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1336194393 CA341267272 |
770 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1416659361 CA341267262 |
771 | D>E | No |
ClinGen TOPMed |
|
|
COSM913406 rs1375093904 CA341267269 |
771 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs759562164 CA955323 |
772 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 773 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA26815740 rs965616097 |
774 | M>I | No |
ClinGen TOPMed |
|
|
CA341267235 rs1358716358 |
775 | N>S | No |
ClinGen gnomAD |
|
|
rs150697615 CA955322 |
775 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147155903 CA955321 |
776 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341267230 rs1332271481 |
776 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA26815701 rs748027776 |
777 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778964260 CA955319 |
778 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA341267216 rs1438891972 |
778 | C>S | No |
ClinGen gnomAD |
|
|
rs768510746 CA955318 |
779 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 779 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480750965 CA341267199 |
780 | T>I | No |
ClinGen gnomAD |
|
|
rs1236462674 CA341267197 |
781 | E>K | No |
ClinGen gnomAD |
|
|
CA955316 rs749096646 |
785 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA955315 rs779816516 |
785 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143568257 CA955311 |
789 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341267134 rs1291606634 |
790 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs764599323 CA955309 |
790 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 791 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341267118 rs1313454335 |
792 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 794 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA955307 rs763261459 |
796 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343281668 CA341267081 |
797 | Q>H | No |
ClinGen gnomAD |
|
|
rs1419388121 CA341267066 |
800 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs753081234 CA955306 |
801 | Y>D | No |
ClinGen ExAC TOPMed |
|
|
CA341267055 rs1412643042 |
801 | Y>F | No |
ClinGen gnomAD |
|
|
CA955305 rs144562250 |
802 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759641595 CA955304 |
804 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1475925155 CA341267035 |
804 | F>L | No |
ClinGen gnomAD |
|
|
CA955303 rs776977845 |
805 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs769329876 CA26815602 |
806 | Q>H | No |
ClinGen Ensembl |
|
|
CA341267019 rs1485177013 |
806 | Q>R | No |
ClinGen gnomAD |
|
|
rs770901795 CA955302 |
811 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs369490013 CA955301 |
812 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1627259 CA955298 rs367823753 |
813 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA955297 COSM913405 rs373868471 |
813 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1404406823 CA341266969 |
814 | K>N | No |
ClinGen TOPMed |
|
|
rs997152293 CA26815543 |
815 | L>V | No |
ClinGen Ensembl |
|
|
rs769751257 CA955296 |
816 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547841302 CA955295 |
817 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341266952 rs1454144973 |
817 | P>L | No |
ClinGen gnomAD |
|
|
rs1319878260 CA341266942 |
819 | P>R | No |
ClinGen TOPMed |
|
|
CA955294 rs780958961 |
819 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462679652 CA341266937 |
820 | V>A | No |
ClinGen gnomAD |
|
|
CA955292 rs900177332 |
820 | V>I | No |
ClinGen gnomAD |
|
|
CA26815510 rs900177332 |
820 | V>L | No |
ClinGen gnomAD |
|
|
CA341266902 rs1192308751 |
825 | L>P | No |
ClinGen gnomAD |
|
|
CA955291 rs756667714 |
825 | L>V | No |
ClinGen ExAC gnomAD |
No associated diseases with O75815
No regional properties for O75815
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O75815 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
| kinase binding | Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group. |
| phosphotyrosine residue binding | Binding to a phosphorylated tyrosine residue within a protein. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| endothelin receptor signaling pathway | A G protein-coupled receptor signaling pathway initiated by endothelin binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| insulin receptor signaling pathway | The series of molecular signals generated as a consequence of the insulin receptor binding to insulin. |
| lens morphogenesis in camera-type eye | The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. |
| positive regulation of DNA replication | Any process that activates or increases the frequency, rate or extent of DNA replication. |
| positive regulation of epidermal growth factor receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of epidermal growth factor receptor signaling pathway activity. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| positive regulation of MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. |
| positive regulation of peptidyl-serine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine. |
| response to xenobiotic stimulus | 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 a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| small GTPase mediated signal transduction | The series of molecular signals in which a small monomeric GTPase relays a signal. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q58DL5 | BCAR3 | Breast cancer anti-estrogen resistance protein 3 homolog | Bos taurus (Bovine) | PR |
| Q8N5H7 | SH2D3C | SH2 domain-containing protein 3C | Homo sapiens (Human) | PR |
| Q9BRG2 | SH2D3A | SH2 domain-containing protein 3A | Homo sapiens (Human) | PR |
| Q9QZS8 | Sh2d3c | SH2 domain-containing protein 3C | Mus musculus (Mouse) | PR |
| Q9QZK2 | Bcar3 | Breast cancer anti-estrogen resistance protein 3 homolog | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAGKFASLP | RNMPVNHQFP | LASSMDLLSS | RSPLAEHRPD | AYQDVSIHGT | LPRKKKGPPP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IRSCDDFSHM | GTLPHSKSPR | QNSPVTQDGI | QESPWQDRHG | ETFTFRDPHL | LDPTVEYVKF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SKERHIMDRT | PEKLKKELEE | ELLLSSEDLR | SHAWYHGRIP | RQVSENLVQR | DGDFLVRDSL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SSPGNFVLTC | QWKNLAQHFK | INRTVLRLSE | AYSRVQYQFE | MESFDSIPGL | VRCYVGNRRP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ISQQSGAIIF | QPINRTVPLR | CLEEHYGTSP | GQAREGSLTK | GRPDVAKRLS | LTMGGVQARE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QNLPRGNLLR | NKEKSGSQPA | CLDHMQDRRA | LSLKAHQSES | YLPIGCKLPP | QSSGVDTSPC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PNSPVFRTGS | EPALSPAVVR | RVSSDARAGE | ALRGSDSQLC | PKPPPKPCKV | PFLKVPSSPS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AWLNSEANYC | ELNPAFATGC | GRGAKLPSCA | QGSHTELLTA | KQNEAPGPRN | SGVNYLILDD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DDRERPWEPA | AAQMEKGQWD | KGEFVTPLLE | TVSSFRPNEF | ESKFLPPENK | PLETAMLKRA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KELFTNNDPK | VIAQHVLSMD | CRVARILGVS | EEMRRNMGVS | SGLELITLPH | GHQLRLDIIE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RHNTMAIGIA | VDILGCTGTL | EDRAATLSKI | IQVAVELKDS | MGDLYSFSAL | MKALEMPQIT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RLEKTWTALR | HQYTQTAILY | EKQLKPFSKL | LHEGRESTCV | PPNNVSVPLL | MPLVTLMERQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| AVTFEGTDMW | EKNDQSCEIM | LNHLATARFM | AEAADSYRMN | AERILAGFQP | DEEMNEICKT |
| 790 | 800 | 810 | 820 | ||
| EFQMRLLWGS | KGAQVNQTER | YEKFNQILTA | LSRKLEPPPV | KQAEL |