Q9UQ84
EV
Gene name |
EXO1 (EXOI, HEX1) |
Protein name |
Exonuclease 1 |
Names |
hExo1, Exonuclease I, hExoI |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9156 |
EC number |
|
Protein Class |
FLAP ENDONUCLEASE FAMILY MEMBER (PTHR11081) |
Descriptions
Human exonuclease 1 (Exo1) plays important roles in DNA repair and recombination processes that maintain genomic integrity. It is a member of the 50 structure-specific nuclease family of exonucleases and endonucleases that includes FEN-1, XPG, and GEN1.
Upon mismatch recognition, first MutSα searches for Exo1 via bidirectional, one-dimensional diffusion along the DNA. Next, MutSα encounters Exo1 prebound at a nick and interacts with the C-terminal domain of Exo1, thereby alleviating the autoinhibition of the Exo1.
Autoinhibitory domains (AIDs)
Target domain |
1-201 (Exonuclease 1-like domain) |
Relief mechanism |
Partner binding |
Assay |
Mutagenesis experiment, Structural analysis, Deletion assay |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
24 structures for Q9UQ84
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3QE9 | X-ray | 251 A | Y/Z | 1-352 | PDB |
| 3QEA | X-ray | 310 A | Z | 1-352 | PDB |
| 3QEB | X-ray | 300 A | Z | 1-352 | PDB |
| 5UZV | X-ray | 245 A | Z | 1-352 | PDB |
| 5V04 | X-ray | 265 A | Z | 1-352 | PDB |
| 5V05 | X-ray | 290 A | Z | 1-352 | PDB |
| 5V06 | X-ray | 275 A | Z | 1-352 | PDB |
| 5V07 | X-ray | 215 A | Z | 1-352 | PDB |
| 5V08 | X-ray | 281 A | Z | 1-352 | PDB |
| 5V09 | X-ray | 275 A | Z | 1-352 | PDB |
| 5V0A | X-ray | 238 A | Z | 1-352 | PDB |
| 5V0B | X-ray | 263 A | Z | 1-352 | PDB |
| 5V0C | X-ray | 258 A | Z | 1-352 | PDB |
| 5V0D | X-ray | 263 A | Z | 1-352 | PDB |
| 5V0E | X-ray | 274 A | Z | 1-352 | PDB |
| 7MXQ | X-ray | 323 A | Z | 1-352 | PDB |
| 7MXR | X-ray | 310 A | Z | 1-352 | PDB |
| 7MXS | X-ray | 280 A | Z | 1-352 | PDB |
| 7MXT | X-ray | 305 A | Z | 1-352 | PDB |
| 7MXU | X-ray | 304 A | Z | 1-352 | PDB |
| 7MXV | X-ray | 221 A | Z | 1-352 | PDB |
| 7MXW | X-ray | 284 A | Z | 1-352 | PDB |
| 7MXX | X-ray | 285 A | Z | 1-352 | PDB |
| AF-Q9UQ84-F1 | Predicted | AlphaFoldDB |
865 variants for Q9UQ84
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1194388213 CA345443498 |
2 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs767855164 CA1480881 |
3 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs982446674 CA40347522 |
4 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 5 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs908214004 CA40347523 |
5 | G>R | No |
ClinGen gnomAD |
|
|
rs1344925020 CA345443686 |
8 | Q>L | No |
ClinGen gnomAD |
|
|
COSM6125616 COSM6125617 |
10 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA345443806 rs764987207 |
11 | K>E | No |
ClinGen ExAC TOPMed |
|
|
CA1480884 rs764987207 |
11 | K>Q | No |
ClinGen ExAC TOPMed |
|
|
CA1480885 rs750340442 |
12 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1480886 rs758360659 |
13 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 15 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM5157821 COSM1340666 |
21 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1038057835 CA40347595 |
22 | Y>* | No |
ClinGen Ensembl |
|
|
rs372301145 CA1480891 |
25 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA40347611 rs932130996 |
25 | Q>R | No |
ClinGen Ensembl |
|
|
rs1472620416 VAR_024966 CA345444262 |
27 | V>A | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
CA1480892 rs747814616 |
27 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA345444265 rs1255607286 |
28 | A>T | No |
ClinGen TOPMed |
|
|
CA1480893 rs375587500 |
29 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1480895 rs749752659 |
31 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220861453 CA345444365 |
33 | C>R | No |
ClinGen TOPMed |
|
|
rs771577156 CA1480896 |
33 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480898 rs759683423 |
34 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1410487182 CA345444436 |
34 | W>* | No |
ClinGen gnomAD |
|
|
CA345444433 rs1410487182 |
34 | W>C | No |
ClinGen gnomAD |
|
|
rs111477819 CA40347638 |
34 | W>R | No |
ClinGen Ensembl |
|
|
CA345444452 rs1410151455 |
35 | L>F | No |
ClinGen TOPMed |
|
|
CA1480900 rs572094015 |
37 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345444520 rs1558119367 |
37 | K>T | No |
ClinGen Ensembl |
|
|
rs372658751 CA1480901 |
38 | G>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1359226504 CA345444545 |
38 | G>V | No |
ClinGen TOPMed |
|
|
rs1323828835 CA345444557 |
40 | I>L | No |
ClinGen gnomAD |
|
|
rs1479455432 CA345444564 |
40 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs750210536 CA1480903 |
41 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143189534 CA40347697 |
42 | C>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs143189534 CA345444593 |
42 | C>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs750915959 RCV000658555 |
45 | K>* | No |
ClinVar dbSNP |
|
|
rs1206665697 CA345444656 |
47 | A>T | No |
ClinGen gnomAD |
|
| COSM3486173 | 48 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1480029453 CA345444691 |
49 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA345444676 rs1558119440 |
49 | G>S | No |
ClinGen Ensembl |
|
|
CA345444693 rs1480029453 |
49 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1182031438 CA345444711 |
50 | E>D | No |
ClinGen gnomAD |
|
|
CA40347717 rs906793729 |
51 | P>S | No |
ClinGen TOPMed |
|
|
rs766312563 CA1480907 |
54 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1480906 rs766312563 |
54 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418766923 CA345444979 |
55 | Y>S | No |
ClinGen gnomAD |
|
|
rs762736122 CA1480928 |
56 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 57 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1480929 rs766222786 |
57 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450637370 CA345445012 |
57 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs200962199 CA1480930 |
59 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1341096291 CA345445051 |
60 | M>L | No |
ClinGen gnomAD |
|
|
rs767015083 CA1480932 |
61 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1480931 rs759511297 |
61 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 62 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370831732 CA1480933 |
64 | N>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755724339 CA1480934 |
64 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1480935 rs763649220 |
65 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs113869435 CA40349240 |
65 | M>V | No |
ClinGen Ensembl |
|
|
CA345445151 rs1490256337 |
66 | L>S | No |
ClinGen TOPMed |
|
|
rs1269828472 CA345445196 |
69 | H>L | No |
ClinGen TOPMed |
|
|
CA345445206 rs1222768794 COSM3486178 |
70 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
CA40349242 rs1037049584 |
70 | G>R | No |
ClinGen Ensembl |
|
|
rs1224881550 CA345445223 |
71 | I>N | No |
ClinGen TOPMed |
|
|
rs1224881550 CA345445226 |
71 | I>T | No |
ClinGen TOPMed |
|
|
CA1480938 rs779456439 |
72 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs199625132 CA1480939 |
73 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM1320316 | 73 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA1480940 rs758848387 |
74 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192854661 CA345445287 |
75 | L>F | No |
ClinGen gnomAD |
|
|
VAR_024967 CA1480942 rs4149864 RCV000966792 |
76 | V>I | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345445305 rs4149864 |
76 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345445370 rs1436474433 |
80 | C>W | No |
ClinGen Ensembl |
|
|
rs1175923198 CA345445362 |
80 | C>Y | No |
ClinGen gnomAD |
|
|
rs776708197 CA1480944 |
83 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345445421 rs1316751501 |
84 | S>F | No |
ClinGen gnomAD |
|
|
CA1480945 rs748419645 |
85 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1480946 rs770682554 |
87 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770682554 CA345445470 |
87 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345445504 rs1574130716 |
88 | V>A | No |
ClinGen Ensembl |
|
|
COSM5832542 CA1480948 COSM5832543 rs147963292 |
89 | E>D | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs774165447 CA1480947 |
89 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 90 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1480950 rs187875457 |
91 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1480951 rs187875457 |
91 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 92 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000963788 CA1480952 rs4149865 VAR_024968 |
93 | R>G | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345445570 rs1425606387 |
93 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA345445585 rs1283213233 |
94 | E>A | No |
ClinGen gnomAD |
|
|
CA40349412 rs192680726 |
94 | E>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
COSM906508 CA1480973 rs761495515 |
96 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs764989865 CA1480974 |
96 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750170334 CA1480976 |
97 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs750170334 CA1480975 |
97 | Q>K | No |
ClinGen ExAC gnomAD |
|
| COSM74554 | 98 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 98 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345446269 rs1220187751 |
99 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA345446272 rs1327728016 |
99 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 102 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766819069 CA1480977 |
105 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246696516 CA345446377 |
106 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1246696516 CA345446375 |
106 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA345446389 rs1358316501 |
107 | L>I | No |
ClinGen TOPMed |
|
|
rs751980406 CA1480978 |
107 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM2050244 rs567681802 COSM4234897 CA1480979 |
108 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1480980 rs147687027 |
108 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345446403 rs147687027 |
108 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA40350499 rs141567727 |
109 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs756251971 CA1480982 |
109 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1480981 VAR_024969 rs143546023 |
109 | E>K | abrogates exonuclease activity [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
| rs1364409897 | 112 | V>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1480984 rs373710484 |
113 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM425766 COSM5214632 |
114 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1394917461 CA345446480 |
115 | A>V | No |
ClinGen TOPMed |
|
|
rs779927405 CA1480986 |
116 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371763760 CA345446486 |
116 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371763760 CA345446485 |
116 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371763760 CA1480987 |
116 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA40350520 rs963947369 |
118 | C>Y | No |
ClinGen TOPMed |
|
|
CA40350543 rs79036854 |
120 | T>S | No |
ClinGen Ensembl |
|
|
CA1480990 rs755709932 |
121 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1480989 rs374873745 |
121 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 122 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397342924 CA345446554 |
123 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 123 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345446552 rs1397342924 |
123 | I>V | No |
ClinGen gnomAD |
|
|
CA1480994 rs766612173 |
124 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs751977225 CA1480996 |
126 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA345446602 rs1299709424 |
126 | T>P | No |
ClinGen gnomAD |
|
|
rs759905066 CA1480997 |
127 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs768005950 CA1480998 |
127 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA345446618 rs1345823759 |
128 | A>T | No |
ClinGen gnomAD |
|
|
rs753259264 CA1480999 |
130 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1481000 rs756164023 |
131 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA40350621 rs753963521 |
132 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA1481002 rs753963521 |
132 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA345446655 rs1264458182 |
132 | K>R | No |
ClinGen gnomAD |
|
|
CA345446660 rs1264458182 |
132 | K>T | No |
ClinGen gnomAD |
|
|
rs1453293485 CA345446665 |
133 | V>I | No |
ClinGen TOPMed |
|
|
rs757519301 CA1481003 |
134 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs779653956 CA1481004 |
135 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297288977 CA345447989 |
136 | A>G | No |
ClinGen TOPMed |
|
|
CA345447994 rs147663824 |
137 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147663824 VAR_024970 CA1481032 |
137 | A>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs775851634 CA1481035 |
138 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764663715 CA40355343 |
138 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1481036 COSM906515 rs764663715 |
138 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
CA1481034 rs775851634 |
138 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345448012 rs1304498950 |
139 | S>C | No |
ClinGen TOPMed |
|
|
CA345448007 rs1483110081 |
139 | S>P | No |
ClinGen gnomAD |
|
|
rs765285348 CA345448023 |
140 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA1481038 rs369513542 |
140 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs904005495 CA40355366 |
141 | G>E | No |
ClinGen Ensembl |
|
|
rs373134694 CA1481041 CA1481040 |
141 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373134694 CA345448026 |
141 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 142 | V>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345448035 rs1422593249 |
142 | V>I | No |
ClinGen gnomAD |
|
|
CA1481043 rs149474050 |
143 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1190558024 CA345448045 |
143 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs756050889 CA1481044 |
144 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777763548 CA1481045 |
145 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM4030191 | 145 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1371529825 CA345448098 |
146 | V>M | No |
ClinGen gnomAD |
|
|
CA40355437 rs756758949 |
147 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA1481047 rs756758949 |
147 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA345448119 rs1313802049 |
147 | A>V | No |
ClinGen gnomAD |
|
|
rs1244358769 CA345448132 |
148 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1244358769 CA345448129 |
148 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1481048 rs778317733 |
148 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342214336 CA345448157 |
149 | Y>* | No |
ClinGen gnomAD |
|
|
rs1025375857 CA40355485 |
149 | Y>C | No |
ClinGen TOPMed |
|
|
rs780736011 CA1481049 |
149 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345448163 rs1368988094 |
150 | E>K | No |
ClinGen TOPMed |
|
|
rs1558125345 CA345448186 |
151 | A>D | No |
ClinGen Ensembl |
|
|
rs1206067785 CA345448183 |
151 | A>T | No |
ClinGen gnomAD |
|
|
CA1481052 rs143955774 |
153 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1471662645 CA345448218 |
153 | A>T | No |
ClinGen gnomAD |
|
|
CA345448225 rs143955774 VAR_077352 |
153 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD UniProt |
|
|
rs1182087753 CA345448232 |
154 | Q>* | No |
ClinGen gnomAD |
|
|
CA1481053 rs747366705 |
154 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1481054 rs552496936 |
156 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777175940 CA1481055 |
157 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140218725 CA1481056 |
158 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1352846548 CA345448373 |
160 | K>R | No |
ClinGen gnomAD |
|
|
rs745578850 CA1481059 |
161 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs745578850 CA1481058 |
161 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 161 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745578850 CA1481060 |
161 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753767623 CA1481064 |
162 | G>E | No |
ClinGen ExAC |
|
|
rs753767623 CA1481065 |
162 | G>V | No |
ClinGen ExAC |
|
|
rs778424706 CA1481066 |
163 | I>F | No |
ClinGen ExAC |
|
|
CA1481068 rs749936394 |
163 | I>M | No |
ClinGen ExAC |
|
|
CA1481069 rs757966518 |
164 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs757966518 CA1481070 |
164 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1481073 rs78172944 |
165 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1431401922 CA345448498 |
166 | A>G | No |
ClinGen TOPMed |
|
|
rs1000287789 CA40355760 |
167 | I>M | No |
ClinGen TOPMed |
|
|
rs748644107 CA1481075 |
167 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558125541 CA345448555 |
169 | T>A | No |
ClinGen Ensembl |
|
|
CA1481077 rs773359403 |
169 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1358941128 CA345448615 |
171 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1183166008 CA345448609 |
171 | D>G | No |
ClinGen TOPMed |
|
|
rs771195080 CA1481079 |
172 | S>L | No |
ClinGen ExAC TOPMed |
|
|
CA345448630 rs1264649136 |
173 | D>N | No |
ClinGen gnomAD |
|
|
CA1481081 rs759706932 |
174 | L>P | No |
ClinGen ExAC |
|
|
rs911176364 CA40355784 |
175 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1481082 rs376344276 |
178 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753589406 CA1481083 |
178 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA345448721 rs1225979893 |
179 | C>R | No |
ClinGen TOPMed |
|
|
rs868747470 CA40355794 |
181 | K>R | No |
ClinGen Ensembl |
|
|
rs1372204767 CA345448831 |
182 | V>E | No |
ClinGen TOPMed |
|
|
CA1481101 rs761498862 |
182 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431710437 CA345448896 |
187 | D>V | No |
ClinGen gnomAD |
|
|
CA345448902 rs1444134290 |
188 | Q>* | No |
ClinGen TOPMed |
|
|
CA1481105 rs765827132 |
188 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs150454803 CA1481104 |
188 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150454803 CA1481103 |
188 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA40356716 rs930225603 |
189 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1481107 rs754596782 |
192 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777008877 CA40356754 |
192 | G>V | No |
ClinGen Ensembl |
|
|
rs767076738 CA1481108 |
193 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 196 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345448999 rs1343116204 |
196 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| COSM4030194 | 197 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs967355913 CA40356773 |
197 | Q>R | No |
ClinGen TOPMed |
|
| COSM906517 | 198 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA345449056 rs1236162840 |
198 | A>V | No |
ClinGen TOPMed |
|
|
COSM6125615 COSM6125614 |
199 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA1481110 rs756528232 |
199 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752455320 CA1481109 |
199 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA345449644 rs1276297175 |
201 | G>E | No |
ClinGen gnomAD |
|
|
CA1481111 rs778310924 |
203 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA40356817 rs1039705342 |
204 | R>G | No |
ClinGen Ensembl |
|
|
rs1441611327 CA345449715 |
205 | Q>* | No |
ClinGen gnomAD |
|
|
CA1481113 rs759751320 |
207 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1481112 rs749761548 |
207 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345449750 rs1206315631 |
208 | D>G | No |
ClinGen TOPMed |
|
|
CA345449760 rs1315909343 |
209 | V>A | No |
ClinGen TOPMed |
|
|
rs560299246 CA1481115 |
211 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA40356843 rs143409424 |
211 | T>P | No |
ClinGen ESP |
|
|
rs747293571 CA1481118 |
212 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA345449823 rs1314461218 |
214 | K>R | No |
ClinGen Ensembl |
|
|
CA1481119 COSM4503722 COSM4503721 rs769539605 |
216 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
CA1481120 rs773014713 |
216 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1481121 rs762819929 |
218 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345449946 rs1181562719 |
220 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 221 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA40356895 rs934074753 |
221 | L>V | No |
ClinGen Ensembl |
|
|
rs1041952577 CA40356900 |
222 | S>A | No |
ClinGen Ensembl |
|
|
rs902990409 CA40356903 |
223 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1338739050 CA345450027 |
224 | C>F | No |
ClinGen TOPMed |
|
| TCGA novel | 226 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345450079 rs1574142565 |
226 | Y>S | No |
ClinGen Ensembl |
|
|
rs975298764 CA40356931 |
227 | L>V | No |
ClinGen TOPMed |
|
|
CA1481125 rs767107084 |
230 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1481127 rs755850791 |
231 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345450184 rs755850791 |
231 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764493111 CA1481128 |
231 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs764493111 CA345450195 |
231 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA345450242 rs1359904222 |
233 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs754255056 CA1481129 |
233 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA345450240 rs1359904222 |
233 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1481130 rs757762593 |
234 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA345450292 rs1209366230 |
236 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA345450337 rs1439711554 |
238 | A>P | No |
ClinGen gnomAD |
|
| COSM906518 | 238 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs770549019 CA1481133 |
241 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 242 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747186288 CA1481135 |
245 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747186288 CA1481136 |
245 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749081178 CA1481138 |
246 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1481137 rs765785025 |
246 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA345450501 rs1407796878 |
248 | P>L | No |
ClinGen gnomAD |
|
|
CA345450494 rs1186055154 |
248 | P>S | No |
ClinGen TOPMed |
|
|
CA1481139 rs61750993 |
249 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1481141 rs759561050 |
250 | I>M | No |
ClinGen ExAC TOPMed |
|
|
CA1481140 rs774136473 |
250 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA345450545 rs1454409100 |
251 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1382014743 CA345450568 |
252 | K>N | No |
ClinGen gnomAD |
|
|
CA40357002 rs758935305 |
252 | K>R | No |
ClinGen Ensembl |
|
|
CA1481153 rs147503939 |
253 | V>I | No |
ClinGen ESP ExAC TOPMed |
|
|
CA345450830 rs1297681905 |
255 | K>* | No |
ClinGen gnomAD |
|
|
CA345450852 rs1328248211 |
255 | K>R | No |
ClinGen gnomAD |
|
|
rs755117575 CA1481155 |
256 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA345450923 rs934866372 |
257 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA345450918 rs1277792665 |
257 | I>T | No |
ClinGen gnomAD |
|
|
rs1274779612 CA345450934 |
258 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA345450926 rs1214945647 |
258 | G>R | No |
ClinGen gnomAD |
|
|
CA1481156 rs781383854 |
259 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1261593738 CA345451034 |
262 | K>E | No |
ClinGen gnomAD |
|
| COSM3486193 | 263 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA1481157 rs748421983 |
264 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345451132 rs548499993 |
265 | I>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA40358853 rs548499993 |
265 | I>V | No |
ClinGen 1000Genomes gnomAD |
|
| COSM3486194 | 266 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM5657614 rs150105848 COSM310958 CA1481158 |
266 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1481159 rs150105848 |
266 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772048875 CA1481161 |
267 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA345451207 rs1458712016 |
268 | P>L | No |
ClinGen TOPMed |
|
|
rs746723520 CA1481163 |
269 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1481162 rs775632538 |
269 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776390406 CA345451275 |
270 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1481164 rs201509012 |
270 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs905819666 CA40358917 |
272 | I>N | No |
ClinGen gnomAD |
|
|
CA345451323 rs905819666 |
272 | I>T | No |
ClinGen gnomAD |
|
|
CA1481167 rs765472230 |
272 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1481168 rs149397534 |
274 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 275 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558128124 CA345451469 |
277 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1481170 rs766904903 |
277 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240263831 CA345451511 |
278 | A>V | No |
ClinGen gnomAD |
|
|
rs4149909 CA1481173 |
279 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_024971 CA1481172 rs4149909 |
279 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs200754492 CA1481174 |
280 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1481175 rs200754492 |
280 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345451652 rs1379177845 |
283 | L>F | No |
ClinGen TOPMed |
|
|
CA1481177 rs745668030 |
283 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1481178 rs758181788 |
284 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA345452203 rs1196802915 |
285 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1196802915 CA345452202 |
285 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA345452330 rs1161105969 |
292 | K>E | No |
ClinGen gnomAD |
|
|
CA345452353 rs1188719443 |
293 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1481180 rs746983719 |
296 | I>T | No |
ClinGen ExAC gnomAD |
|
| COSM3486195 | 297 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs999323643 CA40360550 |
297 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs554727186 CA345452522 |
299 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1481181 VAR_024972 rs4149910 RCV000905494 |
299 | N>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1481183 rs747698568 |
300 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA345452555 rs1367236440 |
301 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs769493108 CA1481184 |
301 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs143367336 CA1481187 |
303 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1481186 rs763363627 |
303 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 303 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180808352 CA345452640 |
304 | D>E | No |
ClinGen TOPMed |
|
|
CA1481188 rs774812938 |
305 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345452686 rs1167552447 |
306 | D>E | No |
ClinGen gnomAD |
|
|
rs1238846412 CA345452671 |
306 | D>N | No |
ClinGen TOPMed |
|
|
rs201323654 CA1481189 |
307 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1481191 rs752774825 |
308 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1481192 rs146714333 |
309 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1480717226 CA345452755 |
309 | T>I | No |
ClinGen gnomAD |
|
|
rs1438885571 CA345452813 |
312 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1481194 rs368542606 |
313 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368542606 CA40360626 |
313 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387064770 CA345452860 |
313 | A>V | No |
ClinGen gnomAD |
|
|
CA345452898 rs1398448782 |
315 | Q>R | No |
ClinGen TOPMed |
|
|
rs760783766 CA1481212 |
316 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA345453109 rs1558128870 |
318 | D>G | No |
ClinGen Ensembl |
|
|
CA345453083 rs1267376039 |
318 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 321 | I>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA40361333 rs144135764 |
321 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs754051450 CA1481215 |
321 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA345453212 rs1315609966 |
322 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA345453324 rs1302805963 |
325 | I>T | No |
ClinGen gnomAD |
|
|
CA345453362 rs1361997101 |
326 | A>T | No |
ClinGen gnomAD |
|
|
rs1257025988 CA345453383 |
327 | L>F | No |
ClinGen TOPMed |
|
|
rs1257025988 CA345453396 |
327 | L>V | No |
ClinGen TOPMed |
|
|
COSM6125612 COSM6125613 |
330 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA1481219 rs766217496 |
331 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1481218 rs145785261 |
331 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751405652 CA1481220 |
334 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA1481221 rs112699482 |
335 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781262681 CA1481222 |
337 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781262681 CA345453723 |
337 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA40361416 rs927455927 |
338 | I>L | No |
ClinGen TOPMed |
|
|
CA1481224 rs372371375 |
338 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345453761 rs1184553142 COSM4928179 COSM4928180 |
339 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
CA1481226 rs748924199 |
341 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs770586588 CA1481227 |
342 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376803522 CA1481228 |
344 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 344 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345455385 rs1435313495 |
348 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1481254 rs556027234 |
349 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1481255 rs149029711 |
349 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA40366620 rs766149355 |
350 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345455395 rs766149355 |
350 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1481257 rs369253528 |
351 | S>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 352 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs735943 CA1481259 VAR_024973 |
354 | H>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1481258 rs760597120 |
354 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753819273 CA1481260 |
355 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450013986 CA345455428 |
355 | S>I | No |
ClinGen gnomAD |
|
|
rs1198439643 CA345455429 |
355 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1327827215 CA345455439 |
356 | W>* | No |
ClinGen TOPMed |
|
|
CA345455441 rs987962104 |
357 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA40366628 rs987962104 |
357 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA345455447 rs1471378440 |
358 | D>N | No |
ClinGen gnomAD |
|
|
CA1481261 rs756726442 |
360 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs202181576 CA1481264 |
361 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758060228 CA1481265 |
361 | C>Y | No |
ClinGen ExAC gnomAD |
|
| COSM906520 | 362 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs985916495 CA40366663 |
362 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1481267 rs754871794 |
365 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308424748 CA345455531 |
367 | V>L | No |
ClinGen gnomAD |
|
|
CA345455548 rs1248082058 |
368 | S>R | No |
ClinGen gnomAD |
|
|
rs910179760 CA40366682 |
370 | I>F | No |
ClinGen TOPMed |
|
|
CA1481269 rs781529397 |
371 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA1481270 rs748705205 |
372 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1481271 rs149349773 |
373 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1464791842 CA345455608 |
373 | R>K | No |
ClinGen gnomAD |
|
|
rs1028737484 CA40366685 |
376 | S>F | No |
ClinGen TOPMed |
|
|
CA345455643 rs1362223375 |
376 | S>P | No |
ClinGen TOPMed |
|
|
rs1204720615 CA345455682 |
378 | R>S | No |
ClinGen gnomAD |
|
|
rs773451365 CA1481272 |
381 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345455751 rs1197219311 |
382 | G>D | No |
ClinGen gnomAD |
|
|
CA40366707 rs944391727 |
383 | T>A | No |
ClinGen TOPMed |
|
|
CA345455766 rs1558133007 |
383 | T>I | No |
ClinGen Ensembl |
|
|
rs1245338647 CA345455835 |
386 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA345455826 rs1237960443 |
386 | D>G | No |
ClinGen gnomAD |
|
|
rs1443850922 CA345455857 |
388 | P>A | No |
ClinGen gnomAD |
|
|
rs199674255 CA1481274 |
389 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345455890 rs774688889 |
389 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM5205660 COSM425767 |
390 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1278856433 CA345455908 |
390 | L>W | No |
ClinGen Ensembl |
|
|
rs760362865 CA1481277 |
393 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1463860896 CA345455987 |
394 | P>T | No |
ClinGen gnomAD |
|
|
CA1481278 rs763985875 |
395 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs761759671 CA1481280 |
397 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA345456074 rs1278551949 |
399 | V>M | No |
ClinGen TOPMed |
|
|
rs1332150183 CA345456101 |
400 | E>G | No |
ClinGen gnomAD |
|
|
CA345456092 rs1240430272 |
400 | E>K | No |
ClinGen TOPMed |
|
|
CA1481281 rs764668398 |
401 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757992445 CA1481283 |
401 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757992445 CA1481284 |
401 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345456177 rs1160688113 |
403 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1270986266 CA345456167 |
403 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1481285 rs751275581 |
405 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1481286 rs369864583 |
406 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 407 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs532992049 CA1481287 |
407 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| COSM906521 | 410 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA40366818 rs571928768 VAR_024974 |
410 | L>R | abrogates exonuclease activity [UniProt] | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
rs1476601636 CA345456358 |
413 | K>E | No |
ClinGen gnomAD |
|
|
rs543887227 CA1481292 |
414 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543887227 CA1481291 |
414 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1481296 rs768283548 |
415 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761669697 CA1481298 |
416 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1318996674 CA345456412 |
416 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA345456478 rs1574156474 |
419 | R>K | No |
ClinGen Ensembl |
|
|
CA345456495 rs773192633 |
419 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762348945 CA1481301 |
421 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148510810 CA1481302 |
422 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146098746 CA1481318 |
423 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM679668 | 424 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs938571298 CA40372165 |
428 | D>E | No |
ClinGen Ensembl |
|
|
CA345457780 rs1226232757 |
428 | D>G | No |
ClinGen TOPMed |
|
|
VAR_024975 CA40372159 rs4149962 |
428 | D>N | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
rs769626394 CA1481319 |
429 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1481320 rs369609566 |
431 | L>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1489225464 CA345457850 |
432 | S>T | No |
ClinGen gnomAD |
|
|
CA40372182 rs956692055 |
433 | Q>E | No |
ClinGen TOPMed |
|
|
CA1481321 rs762980419 |
433 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345457888 rs1444229865 |
434 | Y>F | No |
ClinGen TOPMed |
|
| VAR_024976 | 438 | F>C | No | UniProt | |
|
CA345457971 rs1180412914 |
438 | F>L | No |
ClinGen gnomAD |
|
|
VAR_024977 CA1481324 rs4149963 |
439 | T>M | may be associated with an increased risk of colorectal cancer [UniProt] | No |
ClinGen UniProt 1000Genomes ESP TOPMed dbSNP gnomAD |
|
rs752458504 CA1481328 |
441 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1481327 rs374024849 |
441 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345458068 rs1350551793 |
442 | T>N | No |
ClinGen gnomAD |
|
| COSM70659 | 444 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1558137329 CA345458099 |
445 | N>D | No |
ClinGen Ensembl |
|
|
rs75121323 CA345458151 |
446 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs75121323 CA1481329 |
446 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345458223 rs1411670183 |
449 | G>D | No |
ClinGen TOPMed |
|
|
CA345458214 rs1292030644 |
449 | G>S | No |
ClinGen gnomAD |
|
|
CA345458250 rs1390425908 |
450 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764579432 CA1481330 |
453 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1312078164 CA345458333 |
454 | S>N | No |
ClinGen gnomAD |
|
|
CA1481331 rs149663738 |
455 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1481332 VAR_024978 rs4149964 |
456 | S>Y | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1481333 rs778790217 |
457 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1481335 rs4149965 |
458 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1481334 rs4149965 VAR_024979 |
458 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| COSM4030197 | 459 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
VAR_024980 rs4149966 CA1481338 |
460 | V>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1480830417 CA345458515 |
461 | P>R | No |
ClinGen gnomAD |
|
|
CA1481340 rs201895702 |
462 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1481342 rs774224724 |
467 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs531242519 CA40372281 |
467 | P>S | No |
ClinGen gnomAD |
|
|
CA1481344 rs745374205 |
470 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA1481345 rs369543845 |
470 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345458672 rs745374205 |
470 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs775239515 CA1481346 |
472 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA40372299 rs1003361891 |
473 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1481347 rs138191248 |
475 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777057223 CA1481349 |
476 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA345458771 rs1446646924 |
476 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs370197529 CA1481350 |
477 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1380683523 CA345458799 |
477 | P>S | No |
ClinGen gnomAD |
|
|
CA1481352 rs750940919 |
479 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM6125610 COSM6125611 |
480 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA1481353 rs142556885 |
483 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1481354 rs766476769 |
484 | A>T | No |
ClinGen ExAC gnomAD |
|
| COSM1320315 | 485 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 487 | L>Y | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345459034 rs1317099506 |
488 | Q>* | No |
ClinGen gnomAD |
|
|
CA345459043 rs1402829273 |
489 | R>G | No |
ClinGen TOPMed |
|
|
rs751733776 CA1481355 |
490 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1481356 rs148666404 |
491 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777367168 CA1481357 |
492 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs373081551 CA1481358 |
493 | E>Q | No |
ClinGen ESP TOPMed |
|
|
CA345459118 rs1445830119 |
495 | G>D | No |
ClinGen TOPMed |
|
|
rs1180259053 CA345459122 |
496 | A>T | No |
ClinGen gnomAD |
|
|
COSM6125608 COSM6125609 |
496 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1244385577 CA345459146 |
498 | V>A | No |
ClinGen TOPMed |
|
|
CA40372356 rs968122650 |
498 | V>M | No |
ClinGen TOPMed |
|
|
rs762177686 CA40372369 |
499 | V>I | No |
ClinGen Ensembl |
|
|
rs927149660 CA40372380 |
500 | P>S | No |
ClinGen Ensembl |
|
|
rs749107171 CA1481360 |
502 | T>I | No |
ClinGen ExAC |
|
|
CA1481361 rs4149967 VAR_024981 |
503 | R>T | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs778890937 CA1481362 |
505 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1481386 rs1024525498 |
505 | R>S | No |
ClinGen TOPMed |
|
|
rs758412789 CA1481388 |
506 | F>L | No |
ClinGen ExAC |
|
|
CA1481389 rs554889380 |
507 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763386152 COSM1340675 COSM4612735 |
508 | C>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
COSM5207739 rs763386152 COSM5207740 |
508 | C>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
rs1309952139 CA345459514 |
509 | S>G | No |
ClinGen gnomAD |
|
|
rs746503538 COSM3864980 CA1481390 |
510 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| COSM906522 | 512 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1222611500 CA345459541 |
513 | T>A | No |
ClinGen gnomAD |
|
|
rs1269385506 CA345459546 |
514 | D>N | No |
ClinGen gnomAD |
|
|
rs370707037 CA1481396 |
515 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763385606 CA1481397 |
516 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1381535877 CA345459576 |
518 | N>S | No |
ClinGen gnomAD |
|
|
rs375554534 CA1481398 |
519 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774899065 CA1481399 |
519 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197971900 CA345459596 |
521 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA345459592 rs1274977880 |
521 | S>R | No |
ClinGen TOPMed |
|
|
rs1310234295 CA345459620 |
524 | P>L | No |
ClinGen TOPMed |
|
|
CA40378408 rs972066355 |
526 | D>E | No |
ClinGen TOPMed |
|
|
rs1369691734 CA345459633 |
527 | E>K | No |
ClinGen TOPMed |
|
|
rs767538758 CA1481402 |
529 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3804577 COSM5209717 |
530 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA1481403 rs752911094 |
531 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1481404 rs568600790 |
532 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1481405 rs765012224 |
533 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM906523 | 534 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs984852846 CA40378435 |
534 | E>A | No |
ClinGen Ensembl |
|
|
rs910425196 CA345459694 |
535 | N>K | No |
ClinGen TOPMed |
|
|
CA1481406 rs750235989 |
536 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1307119615 CA345459706 |
537 | L>P | No |
ClinGen gnomAD |
|
|
CA345459704 rs758324514 |
537 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780115762 CA345459712 |
538 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780115762 CA1481408 |
538 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345459733 rs1229069966 |
541 | E>G | No |
ClinGen gnomAD |
|
| COSM4030199 | 541 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA1481410 rs754470641 |
542 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs751586103 CA1481409 |
542 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA345459753 rs1459436543 |
544 | D>G | No |
ClinGen gnomAD |
|
|
COSM3930699 rs1239175711 CA345459749 |
544 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs113325720 CA40378465 |
545 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs113325720 CA1481411 |
545 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM5825846 COSM3418980 |
546 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA345459767 rs1379120511 |
546 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1481412 rs371319547 |
547 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769338146 CA1481413 |
549 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769338146 CA345459786 |
549 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142108522 CA1481415 |
551 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM906524 | 552 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA1481416 rs374566461 |
552 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1481417 rs774812988 |
552 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA40378523 rs202188194 |
553 | T>A | No |
ClinGen Ensembl |
|
|
CA1481418 rs759978806 |
553 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA1481419 rs772128848 CA40378526 |
554 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425414134 CA530379352 |
556 | A>* | No |
ClinGen TOPMed gnomAD |
|
|
rs145789527 CA1481420 |
557 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1481422 rs143800705 |
557 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145789527 CA1481421 |
557 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1236649834 CA345459832 |
558 | N>D | No |
ClinGen TOPMed |
|
|
CA345459843 rs1210617501 |
559 | S>* | No |
ClinGen TOPMed |
|
|
rs754160967 CA1481424 |
561 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1481425 rs766309231 |
563 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1481426 rs751493652 |
564 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs867711669 CA40378552 |
564 | P>S | No |
ClinGen Ensembl |
|
|
rs1197279524 CA345459879 |
565 | N>D | No |
ClinGen gnomAD |
|
|
rs1250512379 CA345459906 |
568 | I>T | No |
ClinGen gnomAD |
|
|
CA345459912 rs1442494171 |
569 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs752146064 CA1481429 |
570 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1474650502 CA345459919 |
570 | G>V | No |
ClinGen gnomAD |
|
|
CA345459924 rs1170992912 |
571 | D>G | No |
ClinGen gnomAD |
|
|
CA1481430 rs755710264 |
577 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138859903 CA1481431 |
578 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345459972 rs1169852266 |
578 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 578 | T>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345459979 rs1377291805 |
579 | V>A | No |
ClinGen TOPMed |
|
|
rs748983798 CA1481432 |
580 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA345459999 rs1397717523 |
582 | D>V | No |
ClinGen gnomAD |
|
|
CA345460019 rs757582060 |
585 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757582060 CA1481433 |
585 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414355392 CA345460024 |
586 | Y>H | No |
ClinGen gnomAD |
|
|
rs368975084 CA1481435 |
586 | Y>S | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM3804578 COSM5203510 |
587 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA1481436 rs772450641 |
587 | S>F | No |
ClinGen ExAC |
|
|
CA1481437 VAR_024982 rs1047840 |
589 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1047840 CA345460043 |
589 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA40378635 rs1013046687 |
590 | S>N | No |
ClinGen TOPMed |
|
|
rs1412699932 CA345460060 |
591 | S>N | No |
ClinGen TOPMed |
|
|
CA345460057 rs1221684636 |
591 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA40378637 rs1024995372 |
592 | K>Q | No |
ClinGen TOPMed |
|
|
CA1481438 rs575361279 |
592 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345460106 rs1202731740 |
598 | S>P | No |
ClinGen gnomAD |
|
|
CA40378657 rs963368654 |
600 | P>S | No |
ClinGen TOPMed |
|
|
rs140302179 CA1481441 |
601 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345460125 rs766219485 |
601 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140302179 CA345460123 |
601 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766219485 CA1481442 |
601 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA40378662 rs774022000 |
602 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1476714525 CA345460140 |
604 | T>A | No |
ClinGen gnomAD |
|
|
CA1481444 rs759444502 |
604 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA40378669 rs1026340423 |
606 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 606 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM906526 | 607 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs374770182 CA1481445 |
607 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1558143415 CA345460165 |
608 | C>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 608 | C>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs544468931 CA1481446 |
609 | F>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_024983 rs12122770 CA1481448 |
610 | S>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345460177 rs12122770 |
610 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1481449 rs191573829 |
613 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345460207 rs1295247469 |
614 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA345460216 rs756903638 CA1481450 |
616 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1445401930 CA345460238 |
619 | S>P | No |
ClinGen gnomAD |
|
|
COSM1340678 COSM5158832 CA1481451 rs367935074 |
621 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM5629798 rs758843857 CA1481453 COSM5629797 |
622 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
rs1287544441 CA345460261 |
623 | S>G | No |
ClinGen gnomAD |
|
|
rs1348876025 CA345460271 |
624 | P>R | No |
ClinGen TOPMed |
|
|
rs199573199 CA40378704 |
624 | P>S | No |
ClinGen Ensembl |
|
|
CA1481455 rs747581349 |
626 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1481456 rs768807196 |
627 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1434730474 CA345460292 |
628 | T>A | No |
ClinGen gnomAD |
|
|
rs978138903 CA40378731 |
628 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1394476144 CA345460296 |
629 | A>T | No |
ClinGen gnomAD |
|
|
rs770138154 CA1481459 |
632 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1289992812 CA345460321 |
632 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM906527 rs560322680 CA40378763 |
634 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic 1000Genomes NCI-TCGA |
|
rs4149978 CA1481460 VAR_024984 |
634 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345460346 rs1391885022 |
636 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1481461 rs552292568 |
636 | K>Q | No |
ClinGen 1000Genomes ExAC |
|
|
CA1481462 rs562538640 |
636 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775255365 CA1481464 |
637 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs775255365 CA1481463 |
637 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs753339050 CA1481466 |
638 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1481467 rs753339050 |
638 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345460364 rs1241521187 |
639 | S>F | No |
ClinGen gnomAD |
|
|
rs61736331 VAR_024985 CA1481470 |
640 | P>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345460369 rs1237840444 |
640 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1481469 rs61736331 VAR_024986 |
640 | P>S | reduces interaction with MSH2; abrogates interaction with MSH2; when associated with L-770 [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA345460370 rs1558143735 |
641 | T>P | No |
ClinGen Ensembl |
|
|
CA1481474 rs755546869 |
643 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345460385 rs1228527485 |
643 | L>S | No |
ClinGen gnomAD |
|
|
rs748226810 CA1481476 |
644 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs200876518 CA1481475 |
644 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345460392 rs1180469500 |
645 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 647 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345460420 rs1558143819 |
648 | M>T | No |
ClinGen Ensembl |
|
|
rs1384511714 CA345460428 |
649 | S>C | No |
ClinGen TOPMed |
|
|
rs770050432 CA1481477 |
649 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1481478 rs777830293 |
650 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1481479 rs749559339 |
651 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1481480 rs771719401 |
652 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1243368200 CA345460448 |
653 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 654 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345460464 rs1394230758 |
655 | K>E | No |
ClinGen gnomAD |
|
|
CA345460467 rs1448115454 |
655 | K>R | No |
ClinGen gnomAD |
|
|
rs948913097 CA40378869 |
656 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs200010267 CA1481484 |
657 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200010267 CA1481485 |
657 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750004439 CA1481487 |
658 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345460491 rs1242190896 |
659 | S>P | No |
ClinGen gnomAD |
|
|
rs762671289 CA1481488 |
661 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs751959288 CA1481490 |
662 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1481492 rs781754281 |
664 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA345460539 rs1483724502 |
666 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA40378895 rs1006188366 |
668 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1481494 rs547661777 |
668 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547661777 CA345460553 |
668 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547661777 CA1481493 |
668 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| COSM906529 | 669 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM679662 | 669 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
VAR_024987 CA1481496 rs1776148 |
670 | E>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1481495 rs777936235 |
670 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345460564 rs1776148 |
670 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771175991 CA1481497 |
671 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779074410 CA1481498 |
672 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA1481500 rs202238632 |
673 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA40378931 rs202238632 |
673 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 673 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776504870 CA1481501 |
675 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs761771698 CA1481502 |
677 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA345460613 rs769119452 |
678 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772792384 CA1481504 |
678 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs769119452 CA1481503 |
678 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220311705 CA345460617 |
679 | S>G | No |
ClinGen gnomAD |
|
|
CA345460627 rs1574179110 |
680 | G>E | No |
ClinGen Ensembl |
|
| COSM906530 | 681 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA1481505 rs201006160 |
681 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345460630 rs1255928489 |
681 | E>K | No |
ClinGen gnomAD |
|
|
CA345460649 rs1210759973 |
683 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345460655 rs1170638048 |
684 | L>R | No |
ClinGen TOPMed |
|
|
rs774186322 CA1481507 |
685 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 687 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759955633 CA1481508 |
688 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 689 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375847087 CA1481509 |
689 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA345460696 rs753212396 |
691 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1481510 rs753212396 |
691 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558144171 CA345460712 |
693 | S>C | No |
ClinGen Ensembl |
|
|
rs763404987 CA40378986 |
694 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA345460727 rs756645702 |
695 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA1481511 rs756645702 |
695 | C>W | No |
ClinGen ExAC gnomAD |
|
| COSM679661 | 695 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA345460731 rs1249821861 |
696 | S>F | No |
ClinGen TOPMed |
|
|
rs1025213627 CA40379004 |
696 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA345460740 rs1159840683 |
697 | S>R | No |
ClinGen gnomAD |
|
|
CA345460742 rs1177473210 |
698 | K>E | No |
ClinGen gnomAD |
|
|
CA40379009 rs867939233 |
699 | D>N | No |
ClinGen Ensembl |
|
|
CA1481513 rs753952700 |
700 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA40379032 rs753952700 |
700 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770906927 CA1481514 |
701 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1481515 rs779087918 |
702 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 704 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295215783 CA345461036 |
706 | D>A | No |
ClinGen gnomAD |
|
|
rs764635010 CA345461042 |
706 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4915100 COSM4915099 |
706 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA1481531 rs754354692 |
708 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs373166196 CA1481534 |
709 | I>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1481533 rs765333999 |
709 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs148442141 CA1481535 |
717 | D>E | No |
ClinGen ESP ExAC |
|
|
CA1481536 rs146594026 |
718 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377440723 CA1481537 CA1481538 |
718 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM4030200 | 718 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA345461243 rs1226492220 |
718 | Q>R | No |
ClinGen gnomAD |
|
|
rs187737160 CA1481539 |
719 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749203290 CA1481540 |
720 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs111708150 CA40380566 |
721 | K>E | No |
ClinGen Ensembl |
|
|
CA1481541 rs201343696 CA345461297 |
721 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 721 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1481542 rs774000300 |
722 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1481543 rs1635498 VAR_024988 |
723 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345461313 rs1635498 |
723 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345461310 rs1635498 |
723 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| VAR_024989 | 726 | H>P | No | UniProt | |
|
rs775326016 CA1481545 |
726 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345461369 rs1439001477 |
727 | F>V | No |
ClinGen TOPMed |
|
|
rs768927204 CA1481548 |
731 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1481547 rs761081469 |
731 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA345461439 rs1440038846 |
731 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 731 | D>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752940417 | 731 | D>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1481549 rs777157577 |
732 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1481550 rs370369190 |
732 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1481551 rs370369190 |
732 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138213329 CA1481552 |
734 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345461482 rs1350157745 |
735 | R>G | No |
ClinGen gnomAD |
|
|
rs763086306 CA1481554 |
735 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1481573 rs370652280 |
738 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1357082953 CA345461699 |
740 | G>E | No |
ClinGen gnomAD |
|
|
rs1302983419 CA345461698 |
740 | G>R | No |
ClinGen TOPMed |
|
|
CA345461713 rs1472768446 |
742 | Y>* | No |
ClinGen TOPMed |
|
|
rs375362003 CA1481575 |
742 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345461708 rs1255040929 |
742 | Y>H | No |
ClinGen gnomAD |
|
|
CA40382485 rs1045797627 |
744 | S>A | No |
ClinGen Ensembl |
|
|
rs907192780 CA40382489 |
744 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 749 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA40382495 rs993588125 |
749 | S>P | No |
ClinGen Ensembl |
|
|
CA1481577 rs547993650 |
750 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA40382496 rs921758551 |
752 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA345461775 rs1395840283 |
753 | T>A | No |
ClinGen gnomAD |
|
|
CA345461779 rs1415171008 |
753 | T>S | No |
ClinGen gnomAD |
|
|
rs760523829 CA40382504 |
755 | I>T | No |
ClinGen gnomAD |
|
|
CA345461790 rs1474878806 |
755 | I>V | No |
ClinGen TOPMed |
|
|
rs1414411775 CA345461799 |
756 | K>R | No |
ClinGen gnomAD |
|
|
rs9350 VAR_024990 CA1481578 |
757 | P>L | may be associated with a reduced risk of colorectal cancer [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs9350 CA345461807 |
757 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751763046 CA1481579 |
758 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1328600622 CA345461809 |
758 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
VAR_024991 CA1481580 RCV000501305 RCV000973115 rs4150001 |
759 | G>E | reduces interaction with MSH2; abrogates interaction with MSH2; when associated with L-770 [UniProt] | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA345461822 rs1345101080 |
760 | P>L | No |
ClinGen gnomAD |
|
|
CA40382519 rs552307132 |
761 | A>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
COSM6062482 COSM6062481 |
762 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4912150 COSM4912149 |
762 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1208364791 CA345461839 |
763 | A>G | No |
ClinGen TOPMed |
|
|
rs1208364791 CA345461840 |
763 | A>V | No |
ClinGen TOPMed |
|
|
CA345461842 rs1277587673 |
764 | S>G | No |
ClinGen gnomAD |
|
|
rs1574190237 CA345461848 |
764 | S>R | No |
ClinGen Ensembl |
|
|
rs1485110249 CA345461852 |
765 | G>E | No |
ClinGen gnomAD |
|
|
CA40382529 rs1017423331 |
766 | L>M | No |
ClinGen Ensembl |
|
|
rs763889647 CA1481581 |
768 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1481582 rs753557075 |
768 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345461877 rs1445117695 |
769 | K>R | No |
ClinGen gnomAD |
|
|
CA1481583 rs200622305 VAR_024992 |
770 | P>L | reduces interaction with MSH2; abrogates interaction with MSH2; when associated with S-640 or E-759 [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA345461881 rs1192371406 |
770 | P>T | No |
ClinGen gnomAD |
|
|
CA345461889 rs1393382146 |
771 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1481586 rs757944558 |
771 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA345461893 rs1319402240 |
772 | S>G | No |
ClinGen TOPMed |
|
|
CA1481587 rs779436857 |
772 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA40382565 rs201311802 |
773 | I>F | No |
ClinGen Ensembl |
|
|
CA345461906 rs1311902606 |
774 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA345461908 rs1299082383 |
774 | Q>R | No |
ClinGen gnomAD |
|
|
rs897376422 CA40382567 |
775 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1481590 rs371592693 |
778 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300580740 CA345461948 |
779 | H>Q | No |
ClinGen gnomAD |
|
|
CA345461945 rs1237169133 |
779 | H>R | No |
ClinGen gnomAD |
|
|
rs1558148727 CA345461957 |
781 | A>T | No |
ClinGen Ensembl |
|
|
rs1558148743 CA345461963 |
782 | E>K | No |
ClinGen Ensembl |
|
|
COSM5157822 COSM1340681 |
784 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA1481593 rs748480959 |
785 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs966316301 CA40382587 |
785 | P>T | No |
ClinGen Ensembl |
|
|
rs1348272381 CA345461994 |
786 | G>E | No |
ClinGen gnomAD |
|
|
COSM6125605 COSM6125604 |
786 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1558148774 | 787 | L>Y | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773659059 CA1481595 |
788 | Q>R | No |
ClinGen ExAC gnomAD |
|
| COSM414544 | 789 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1328050550 CA345462012 |
789 | I>V | No |
ClinGen Ensembl |
|
|
CA345462024 rs1356135161 |
790 | K>N | No |
ClinGen TOPMed |
|
|
rs1270394614 CA345462022 |
790 | K>R | No |
ClinGen TOPMed |
|
|
rs1270394614 CA345462023 |
790 | K>T | No |
ClinGen TOPMed |
|
|
CA1481596 rs749825356 |
791 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469726213 CA345462051 |
794 | L>R | No |
ClinGen gnomAD |
|
|
rs1191710247 CA345462067 |
796 | K>R | No |
ClinGen gnomAD |
|
| COSM906531 | 796 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM6009926 COSM6009925 |
799 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs762873847 CA1481629 |
805 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345462156 rs1204537784 |
806 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1481630 rs373885902 |
806 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1290663898 CA345462164 |
807 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1481631 rs368166916 |
808 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1481632 rs368166916 |
808 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1258568613 CA345462169 |
808 | P>S | No |
ClinGen gnomAD |
|
|
rs1257336821 CA345462182 |
810 | C>F | No |
ClinGen TOPMed |
|
|
CA345462195 rs1558151707 |
812 | K>E | No |
ClinGen Ensembl |
|
|
rs1417621898 CA345462197 |
812 | K>R | No |
ClinGen gnomAD |
|
|
rs1429588689 CA345462207 COSM3486198 |
813 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs1461104969 CA345462223 |
816 | P>R | No |
ClinGen gnomAD |
|
| COSM266481 | 816 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3789733 | 817 | V>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1376830574 CA345462231 |
818 | R>G | No |
ClinGen gnomAD |
|
|
CA345462236 rs1412558322 |
818 | R>S | No |
ClinGen gnomAD |
|
|
rs752278136 CA1481634 |
819 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs886914750 CA40384816 |
825 | P>S | No |
ClinGen TOPMed |
|
|
rs1362443564 CA345462295 |
827 | A>S | No |
ClinGen gnomAD |
|
|
VAR_024993 CA1481635 rs145975455 |
827 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1481637 rs754192340 |
828 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1001293843 CA40384825 |
828 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA345462300 rs1001293843 |
828 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1481638 rs757677420 |
829 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 829 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345462304 rs757677420 |
829 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA40384835 rs371963941 |
830 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs895335315 CA40384844 |
832 | F>V | No |
ClinGen gnomAD |
|
|
rs1206523208 CA345462353 |
835 | P>L | No |
ClinGen Ensembl |
|
|
CA345462365 rs1190836510 |
837 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA345462372 rs1257220726 |
838 | G>C | No |
ClinGen gnomAD |
|
|
rs1486430220 CA345462377 |
839 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs763350356 CA1481640 |
839 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 840 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345462381 rs1417909637 |
840 | V>I | No |
ClinGen gnomAD |
|
|
rs376576602 CA1481641 |
841 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 842 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1481642 rs780297678 |
843 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747145417 CA1481643 |
845 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA1481644 rs369825858 |
845 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766853371 CA40384857 |
846 | Q>K | No |
ClinGen Ensembl |
No associated diseases with Q9UQ84
No regional properties for Q9UQ84
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9UQ84 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR11081 | FLAP ENDONUCLEASE FAMILY MEMBER |
| PANTHER Subfamily | PTHR11081:SF8 | EXONUCLEASE 1 |
| PANTHER Protein Class |
DNA metabolism protein
exodeoxyribonuclease |
|
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
11 GO annotations of molecular function
| Name | Definition |
|---|---|
| 5'-3' DNA exonuclease activity | Catalysis of the sequential cleavage of mononucleotides from a free 5' terminus of a DNA molecule. |
| 5'-3' exonuclease activity | Catalysis of the hydrolysis of ester linkages within nucleic acids by removing nucleotide residues from the 5' end. |
| 5'-flap endonuclease activity | Catalysis of the cleavage of a 5' flap structure in DNA, but not other DNA structures; processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis. |
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| double-stranded DNA 5'-3' exodeoxyribonuclease activity | Catalysis of the sequential cleavage of mononucleotides from a free 5' terminus of a double-stranded DNA molecule. |
| exonuclease activity | Catalysis of the hydrolysis of ester linkages within nucleic acids by removing nucleotide residues from the 3' or 5' end. |
| flap endonuclease activity | Catalysis of the cleavage of a flap structure in DNA, but not other DNA structures; processes the ends of Okazaki fragments in lagging strand DNA synthesis. |
| metal ion binding | Binding to a metal ion. |
| RNA-DNA hybrid ribonuclease activity | Catalysis of the endonucleolytic cleavage of RNA in RNA-DNA hybrids to 5'-phosphomonoesters. |
| single-stranded DNA 5'-3' DNA exonuclease activity | Catalysis of the sequential cleavage of nucleotides (such as mononucleotides or dinucleotides) from a free 5' terminus of a single-stranded DNA molecule. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| DNA recombination | Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| humoral immune response mediated by circulating immunoglobulin | An immune response dependent upon secreted immunoglobulin. An example of this process is found in Mus musculus. |
| isotype switching | The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. |
| meiotic cell cycle | Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions. |
| mismatch repair | A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination. |
| somatic hypermutation of immunoglobulin genes | Mutations occurring somatically that result in amino acid changes in the rearranged V regions of immunoglobulins. |
| t-circle formation | A telomere maintenance process that results in the formation of a telomeric circle, or t-circle. A t-circle is an extrachromosomal duplex or single-stranded circular DNA molecule composed of t-arrays. T-circles are involved in the control of telomere length via alternative-lengthening of telomeres (ALT) pathway and telomere rapid deletion (TRD). |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q12086 | DIN7 | DNA damage-inducible protein DIN7 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P39748 | FEN1 | Flap endonuclease 1 | Homo sapiens (Human) | PR |
| Q9QZ11 | Exo1 | Exonuclease 1 | Mus musculus (Mouse) | SS |
| Q803U7 | exo1 | Exonuclease 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGIQGLLQFI | KEASEPIHVR | KYKGQVVAVD | TYCWLHKGAI | ACAEKLAKGE | PTDRYVGFCM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KFVNMLLSHG | IKPILVFDGC | TLPSKKEVER | SRRERRQANL | LKGKQLLREG | KVSEARECFT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RSINITHAMA | HKVIKAARSQ | GVDCLVAPYE | ADAQLAYLNK | AGIVQAIITE | DSDLLAFGCK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KVILKMDQFG | NGLEIDQARL | GMCRQLGDVF | TEEKFRYMCI | LSGCDYLSSL | RGIGLAKACK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VLRLANNPDI | VKVIKKIGHY | LKMNITVPED | YINGFIRANN | TFLYQLVFDP | IKRKLIPLNA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YEDDVDPETL | SYAGQYVDDS | IALQIALGNK | DINTFEQIDD | YNPDTAMPAH | SRSHSWDDKT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CQKSANVSSI | WHRNYSPRPE | SGTVSDAPQL | KENPSTVGVE | RVISTKGLNL | PRKSSIVKRP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RSAELSEDDL | LSQYSLSFTK | KTKKNSSEGN | KSLSFSEVFV | PDLVNGPTNK | KSVSTPPRTR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NKFATFLQRK | NEESGAVVVP | GTRSRFFCSS | DSTDCVSNKV | SIQPLDETAV | TDKENNLHES |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EYGDQEGKRL | VDTDVARNSS | DDIPNNHIPG | DHIPDKATVF | TDEESYSFES | SKFTRTISPP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TLGTLRSCFS | WSGGLGDFSR | TPSPSPSTAL | QQFRRKSDSP | TSLPENNMSD | VSQLKSEESS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DDESHPLREE | ACSSQSQESG | EFSLQSSNAS | KLSQCSSKDS | DSEESDCNIK | LLDSQSDQTS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KLRLSHFSKK | DTPLRNKVPG | LYKSSSADSL | STTKIKPLGP | ARASGLSKKP | ASIQKRKHHN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| AENKPGLQIK | LNELWKNFGF | KKDSEKLPPC | KKPLSPVRDN | IQLTPEAEED | IFNKPECGRV |
| QRAIFQ |