Q13127
Gene name |
REST (NRSF, XBR) |
Protein name |
RE1-silencing transcription factor |
Names |
Neural-restrictive silencer factor, X2 box repressor |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5978 |
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

4 structures for Q13127
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2CZY | NMR | - | B | 43-57 | PDB |
6DU2 | X-ray | 250 A | C/D | 858-869 | PDB |
6DU3 | X-ray | 258 A | C/D | 858-869 | PDB |
AF-Q13127-F1 | Predicted | AlphaFoldDB |
901 variants for Q13127
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA357003184 RCV001294083 rs1342633562 |
80 | G>R | Fibromatosis, gingival, 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
RCV002553235 rs138686672 CA2932102 RCV001050838 |
141 | P>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
VAR_076333 | 160 | R>P | WT6; inhibits transcriptional repression activity [UniProt] | Yes | UniProt |
RCV003163631 rs375735172 CA2932115 RCV001213984 |
176 | H>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
rs869025311 RCV000207468 |
258 | V>missing | Wilms tumor 6 [ClinVar] | Yes |
ClinVar dbSNP |
RCV001230375 rs869025310 RCV000207462 |
278 | C>missing | Wilms tumor 6 [ClinVar] | Yes |
ClinVar dbSNP |
VAR_076334 | 290 | N>Y | WT6; inhibits transcriptional repression activity [UniProt] | Yes | UniProt |
VAR_076335 RCV000207458 rs869025312 CA351624 |
322 | H>R | Wilms tumor 6 WT6; inhibits transcriptional repression activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
VAR_076336 | 412 | H>Q | WT6 [UniProt] | Yes | UniProt |
rs1553904077 CA357006327 RCV000516150 RCV000498225 |
437 | L>* | Fibromatosis, gingival, 1 Fibromatosis, gingival, 5 Fibromatosis, gingival, 1 (gingf1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
VAR_079529 | 437 | L>del | GINGF5 [UniProt] | Yes | UniProt |
RCV001526813 RCV001212714 rs778247936 CA2932251 |
448 | I>M | Wilms tumor 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV002254722 RCV001325863 CA2932295 rs754696564 |
547 | V>L | Wilms tumor 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
RCV001068521 RCV002554548 rs201530969 CA2932424 |
727 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
COSM3302227 rs139336427 RCV000922186 CA2932439 RCV002540995 |
750 | S>T | skin Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000515908 rs1553904346 RCV000498949 |
805 | L>missing | Fibromatosis, gingival, 1 Fibromatosis, gingival, 5 [ClinVar] | Yes |
ClinVar dbSNP |
CA357008952 rs1553904378 RCV000624224 |
839 | E>* | Variant assessed as Somatic; impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
RCV002563960 CA2932533 RCV001239828 rs748529871 |
894 | L>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
CA2932542 rs775073659 RCV001322230 RCV002546092 |
912 | N>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV000995854 rs1284461687 CA357009492 |
924 | Q>* | Fibromatosis, gingival, 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
rs1553904481 RCV000516014 RCV000497680 RCV001851328 |
958 | N>missing | Fibromatosis, gingival, 1 Fibromatosis, gingival, 5 [ClinVar] | Yes |
ClinVar dbSNP |
RCV001055429 rs751959764 CA2932571 RCV002553354 |
958 | N>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
CA2932032 rs766627256 |
3 | T>N | No |
ClinGen ExAC gnomAD |
|
rs1286387521 CA357002332 |
5 | V>A | No |
ClinGen gnomAD |
|
CA357002333 rs1286387521 |
5 | V>G | No |
ClinGen gnomAD |
|
rs1173516304 CA357002328 |
5 | V>I | No |
ClinGen gnomAD |
|
TCGA novel | 6 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA97629369 rs199666541 |
14 | G>A | No |
ClinGen Ensembl |
|
CA357002388 CA357002387 rs1216190809 |
14 | G>R | No |
ClinGen gnomAD |
|
CA97629372 rs1029986380 |
15 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs755279791 CA2932034 |
18 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1387715042 CA357002414 |
18 | S>N | No |
ClinGen Ensembl |
|
rs147722706 CA97629377 |
20 | G>A | No |
ClinGen ESP |
|
CA2932036 rs375511894 |
23 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2932037 RCV001348285 rs777368920 |
24 | M>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA97629383 rs894647864 |
25 | A>D | No |
ClinGen gnomAD |
|
rs1178475745 CA357002529 |
25 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA97629386 rs948833888 |
29 | D>N | No |
ClinGen TOPMed |
|
rs758725744 CA2932038 |
30 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
RCV001341699 rs967744114 |
31 | Y>C | No |
ClinVar dbSNP |
|
CA2932039 rs778338685 |
31 | Y>D | No |
ClinGen ExAC gnomAD |
|
CA97629391 rs967744114 |
31 | Y>S | No |
ClinGen TOPMed |
|
rs1437046091 CA357002750 |
37 | S>C | No |
ClinGen gnomAD |
|
rs776125562 CA2932042 |
38 | K>Q | No |
ClinGen ExAC gnomAD |
|
rs1267572500 CA357002811 |
40 | E>V | No |
ClinGen TOPMed |
|
CA2932044 rs769459656 |
42 | A>G | No |
ClinGen ExAC gnomAD |
|
rs1388661460 CA357002837 |
42 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1578485109 CA357002850 |
43 | A>T | No |
ClinGen Ensembl |
|
CA2932045 rs775172840 |
47 | I>L | No |
ClinGen ExAC gnomAD |
|
CA97629405 rs1014583225 |
48 | M>I | No |
ClinGen Ensembl |
|
rs1381137665 CA357002934 |
48 | M>L | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 50 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2932048 rs370180021 |
58 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2932049 rs370180021 |
58 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA357003041 rs1206566572 |
59 | N>S | No |
ClinGen gnomAD |
|
rs766523223 CA2932051 |
63 | C>R | No |
ClinGen ExAC gnomAD |
|
CA2932053 rs755153452 |
65 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs1401967892 CA357003090 |
66 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA357003095 rs1331461971 |
67 | V>L | No |
ClinGen gnomAD |
|
CA357003130 rs377080732 |
72 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs377080732 CA2932055 |
72 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1321193438 CA357003150 |
74 | A>V | No |
ClinGen gnomAD |
|
TCGA novel | 75 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA357003161 rs1221861537 |
76 | L>Q | No |
ClinGen gnomAD |
|
CA357003174 rs142504829 |
78 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2932056 rs142504829 |
78 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1259814228 CA357003182 |
79 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs747481199 CA2932058 |
80 | G>E | No |
ClinGen ExAC gnomAD |
|
CA2932060 rs545879908 |
81 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs745360783 CA2932061 |
82 | N>S | No |
ClinGen ExAC gnomAD |
|
rs757097016 CA97629447 |
85 | S>A | No |
ClinGen Ensembl |
|
rs757097016 CA97629445 |
85 | S>T | No |
ClinGen Ensembl |
|
CA357003230 rs775123471 |
86 | D>E | No |
ClinGen ExAC gnomAD |
|
RCV000818840 rs1578485326 |
89 | E>missing | No |
ClinVar dbSNP |
|
CA2932064 rs796154475 |
89 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA2932066 rs748955783 |
90 | G>R | No |
ClinGen ExAC gnomAD |
|
CA357003261 rs1477281855 |
91 | E>K | No |
ClinGen gnomAD |
|
CA2932067 rs61748753 RCV000886566 |
92 | G>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1044394452 CA97629460 |
93 | L>P | No |
ClinGen TOPMed gnomAD |
|
CA97629463 rs909981105 |
95 | E>K | No |
ClinGen TOPMed |
|
rs941391615 CA97629465 |
96 | S>Y | No |
ClinGen TOPMed |
|
CA357003300 rs761757985 |
97 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs977427795 CA357003298 |
97 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs977427795 CA97629472 |
97 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs761757985 CA2932069 |
97 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs139840343 CA2932070 |
98 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1387367997 CA357003302 |
98 | D>H | No |
ClinGen gnomAD |
|
rs1323149927 CA357003306 |
98 | D>V | No |
ClinGen gnomAD |
|
CA2932072 rs141631518 |
99 | I>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2932071 RCV001343405 rs141631518 |
99 | I>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001051855 CA2932075 rs150412877 |
101 | G>D | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs752906763 CA2932074 |
101 | G>S | No |
ClinGen ExAC gnomAD |
|
CA2932077 rs751894476 |
103 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA357003337 rs1356441917 |
103 | P>S | No |
ClinGen gnomAD |
|
rs1356441917 CA357003335 |
103 | P>T | No |
ClinGen gnomAD |
|
TCGA novel | 104 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs757667930 CA2932078 |
104 | H>P | No |
ClinGen ExAC gnomAD |
|
COSM1726171 rs781642150 CA2932079 |
105 | G>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs755611815 CA2932081 |
106 | L>P | No |
ClinGen ExAC gnomAD |
|
CA2932083 rs748907683 |
109 | M>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 113 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA357003444 rs1302497540 |
113 | S>N | No |
ClinGen gnomAD |
|
TCGA novel | 113 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs940245420 CA97629509 |
118 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1298973547 CA357003540 |
119 | V>I | No |
ClinGen gnomAD |
|
CA2932087 rs772055621 |
120 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2932088 rs773267428 |
121 | P>R | No |
ClinGen ExAC gnomAD |
|
CA2932090 rs149829250 COSM587858 RCV000884953 |
123 | P>A | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs770225600 CA2932092 |
125 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1352164694 CA357003670 |
127 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1288824485 CA357003684 |
128 | S>L | No |
ClinGen gnomAD |
|
rs549796077 CA2932094 |
129 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA357003704 rs1225668240 |
130 | A>G | No |
ClinGen TOPMed |
|
CA2932095 rs762162582 |
130 | A>S | No |
ClinGen ExAC gnomAD |
|
CA357003709 rs1336567719 |
131 | P>A | No |
ClinGen gnomAD |
|
CA2932097 rs750876253 |
132 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1424886471 CA357003733 |
133 | I>V | No |
ClinGen gnomAD |
|
rs1366817450 CA357003767 |
135 | S>N | No |
ClinGen gnomAD |
|
CA2932098 rs756621666 |
135 | S>R | No |
ClinGen ExAC gnomAD |
|
rs374614406 CA2932100 |
138 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1358594587 CA357003814 |
138 | K>R | No |
ClinGen gnomAD |
|
rs112115500 CA2932101 |
139 | D>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 139 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1417692214 CA357003842 |
140 | L>I | No |
ClinGen TOPMed gnomAD |
|
RCV001344821 rs1719881567 |
140 | L>R | No |
ClinVar dbSNP |
|
CA357003843 rs1417692214 |
140 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs763563599 CA2932103 |
142 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA357003880 rs1428820816 |
143 | E>K | No |
ClinGen TOPMed |
|
rs1401987985 CA357003906 |
144 | T>I | No |
ClinGen Ensembl |
|
CA357003916 rs1184775327 |
145 | P>R | No |
ClinGen gnomAD |
|
TCGA novel | 147 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA357003948 rs1310429913 |
147 | A>V | No |
ClinGen gnomAD |
|
RCV001041844 rs1719882659 |
148 | E>missing | No |
ClinVar dbSNP |
|
rs566521492 CA2932106 |
152 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
RCV001295758 rs1371092850 CA357004036 |
153 | S>G | No |
ClinGen ClinVar TOPMed dbSNP |
|
CA357004042 rs370369213 |
153 | S>I | No |
ClinGen ESP TOPMed gnomAD |
|
CA97629559 rs370369213 |
153 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
rs771308736 CA2932108 |
154 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771308736 CA2932107 |
154 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 155 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1483752957 CA357004111 |
160 | R>C | No |
ClinGen gnomAD |
|
rs1200394143 CA357004112 |
160 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs1200394143 CA357004114 |
160 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1434028396 CA357004136 |
163 | P>L | No |
ClinGen TOPMed |
|
CA2932111 rs774426666 |
165 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs368110817 CA2932113 |
168 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1369643422 CA357004207 |
173 | Q>R | No |
ClinGen gnomAD |
|
CA357004224 rs1178455302 |
175 | V>A | No |
ClinGen gnomAD |
|
rs766763031 CA357004240 |
178 | I>F | No |
ClinGen ExAC gnomAD |
|
CA2932116 rs766763031 |
178 | I>V | No |
ClinGen ExAC gnomAD |
|
CA97629600 rs1031974892 |
179 | R>T | No |
ClinGen gnomAD |
|
CA2932117 rs754431649 |
182 | S>G | No |
ClinGen ExAC gnomAD |
|
CA357004280 rs1208006031 |
184 | K>E | No |
ClinGen TOPMed |
|
CA357004288 rs1374252597 |
185 | K>E | No |
ClinGen gnomAD |
|
CA2932119 rs764815520 |
186 | F>L | No |
ClinGen ExAC |
|
CA2932120 rs752331309 |
186 | F>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 188 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA357004315 rs1346306429 |
189 | E>K | No |
ClinGen TOPMed |
|
rs146236318 CA2932122 |
190 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs757117156 CA2932124 |
192 | A>T | No |
ClinGen ExAC gnomAD |
|
CA357004357 rs1459464915 |
194 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA2932125 rs780987128 |
195 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs745876653 CA2932126 RCV001241448 |
198 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001053987 CA2932127 rs768565370 |
199 | R>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA357004395 rs1193154231 |
200 | E>G | No |
ClinGen gnomAD |
|
CA357004404 COSM98199 rs1309614313 |
201 | S>F | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs1432826392 CA357004409 |
202 | G>A | No |
ClinGen TOPMed |
|
rs369789287 CA2932129 |
203 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369789287 CA357004415 |
203 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1173681874 CA357004420 |
204 | S>C | No |
ClinGen gnomAD |
|
rs981639576 CA97629646 |
205 | T>A | No |
ClinGen TOPMed gnomAD |
|
rs773458977 CA2932131 |
205 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs981639576 CA357004423 |
205 | T>P | No |
ClinGen TOPMed gnomAD |
|
CA97629648 rs373691787 |
206 | A>S | No |
ClinGen TOPMed |
|
rs1441216415 CA357004458 |
210 | D>G | No |
ClinGen TOPMed |
|
CA2932137 rs752278153 |
212 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752278153 CA97629671 |
212 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 216 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2932138 rs376611047 |
217 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA2932139 rs763808902 |
217 | R>H | No |
ClinGen ExAC gnomAD |
|
CA357004522 rs1346435228 COSM192719 |
220 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
rs751325926 CA2932140 |
220 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1578486222 CA357004535 |
222 | G>C | No |
ClinGen Ensembl |
|
rs781057074 CA2932142 |
223 | Y>* | No |
ClinGen ExAC gnomAD |
|
CA357004552 rs1223861498 |
224 | N>K | No |
ClinGen gnomAD |
|
CA357004577 rs1488268000 |
228 | Y>C | No |
ClinGen gnomAD |
|
rs1189295494 CA357004609 |
232 | T>R | No |
ClinGen gnomAD |
|
CA357004633 rs1265108771 |
236 | K>Q | No |
ClinGen gnomAD |
|
rs756112086 CA2932144 |
239 | T>I | No |
ClinGen ExAC gnomAD |
|
CA357004664 rs1246760297 |
240 | R>K | No |
ClinGen gnomAD |
|
CA357004674 rs1421379957 |
241 | A>V | No |
ClinGen gnomAD |
|
CA97629688 rs368339850 |
243 | D>E | No |
ClinGen ESP TOPMed |
|
CA357004685 rs1406655944 |
243 | D>G | No |
ClinGen gnomAD |
|
rs1164834053 CA357004689 |
244 | N>D | No |
ClinGen TOPMed gnomAD |
|
CA2932146 rs748191155 |
246 | R>* | No |
ClinGen ExAC gnomAD |
|
rs772203091 CA2932147 |
246 | R>Q | No |
ClinGen ExAC |
|
rs1314534661 CA357004707 |
247 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA357004721 rs1412642189 |
249 | K>Q | No |
ClinGen TOPMed |
|
CA357004725 rs1456092970 |
249 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA357004760 rs1299598810 |
254 | T>S | No |
ClinGen gnomAD |
|
rs1342789857 CA357004785 |
258 | V>M | No |
ClinGen gnomAD |
|
rs1400922393 CA357004794 |
259 | S>N | No |
ClinGen gnomAD |
|
CA2932148 rs777955335 |
260 | E>G | No |
ClinGen ExAC gnomAD |
|
CA2932151 rs777083737 |
267 | L>V | No |
ClinGen ExAC gnomAD |
|
CA357004872 rs1321159629 |
269 | N>I | No |
ClinGen gnomAD |
|
TCGA novel | 272 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2932153 rs759911296 |
273 | R>S | No |
ClinGen ExAC gnomAD |
|
rs1488530810 CA357004904 |
274 | K>E | No |
ClinGen gnomAD |
|
TCGA novel | 276 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs763756962 CA2932156 |
277 | T>R | No |
ClinGen ExAC gnomAD |
|
CA97629739 rs1037293261 |
280 | K>N | No |
ClinGen Ensembl |
|
CA2932158 rs201400863 |
282 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201400863 CA357004963 |
282 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1014438653 CA97629746 |
283 | Y>C | No |
ClinGen TOPMed |
|
rs767179173 CA2932159 |
283 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA2932160 rs750258882 |
285 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
RCV001313216 rs1160091901 |
286 | D>E | No |
ClinVar dbSNP |
|
TCGA novel | 289 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 291 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs759671149 CA97629754 |
293 | Q>* | No |
ClinGen Ensembl |
|
CA2932162 rs779959126 |
296 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1277910638 CA357005162 |
302 | R>P | No |
ClinGen gnomAD |
|
rs757320743 CA2932187 |
307 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA97632582 rs567456057 |
323 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2932191 rs567456057 |
323 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA357005306 rs1173497088 |
323 | M>V | No |
ClinGen gnomAD |
|
CA357005312 rs1468725438 |
324 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
TCGA novel | 325 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 326 | H>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 326 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1191600909 CA357005611 |
333 | K>N | No |
ClinGen gnomAD |
|
CA357005622 rs1560451153 |
335 | D>N | No |
ClinGen Ensembl |
|
TCGA novel | 339 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2932211 rs780520222 |
339 | Y>F | No |
ClinGen ExAC gnomAD |
|
rs1163187321 CA357005659 |
340 | V>M | No |
ClinGen gnomAD |
|
CA2932212 rs749651610 |
341 | A>S | No |
ClinGen ExAC gnomAD |
|
rs1560451173 CA357005672 |
342 | S>A | No |
ClinGen Ensembl |
|
rs1578512879 CA357005714 |
348 | T>P | No |
ClinGen Ensembl |
|
rs1419352292 CA357005722 |
349 | R>C | No |
ClinGen TOPMed |
|
TCGA novel | 355 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA357005788 rs1298563122 |
358 | P>L | No |
ClinGen gnomAD |
|
CA357005803 COSM1694423 rs1208548556 |
361 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA357005814 rs1429750659 |
362 | N>T | No |
ClinGen TOPMed gnomAD |
|
CA357005838 rs139443175 |
365 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA357005836 rs1380492040 |
365 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs772625881 CA2932217 |
367 | D>Y | No |
ClinGen ExAC |
|
CA97636299 rs77133253 |
368 | Y>* | No |
ClinGen Ensembl |
|
rs1347262737 CA357005897 |
374 | S>G | No |
ClinGen TOPMed |
|
CA97636302 rs997052671 |
383 | H>Y | No |
ClinGen Ensembl |
|
rs776304738 CA2932220 |
388 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA2932221 rs150066390 |
390 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs775441291 CA2932223 |
393 | V>L | No |
ClinGen ExAC gnomAD |
|
CA357006049 rs1383675520 |
395 | D>E | No |
ClinGen gnomAD |
|
rs112873471 CA97636321 |
395 | D>G | No |
ClinGen Ensembl |
|
rs762805457 CA2932224 |
395 | D>N | No |
ClinGen ExAC gnomAD |
|
CA357006093 rs1159435321 |
402 | C>R | No |
ClinGen gnomAD |
|
rs750555052 CA2932226 |
413 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs916067592 CA97636325 |
413 | P>R | No |
ClinGen TOPMed |
|
CA97636329 rs1029140562 |
414 | T>A | No |
ClinGen gnomAD |
|
CA2932227 rs756313952 |
414 | T>I | No |
ClinGen ExAC gnomAD |
|
CA2932229 rs754183550 |
416 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA97636342 rs754183550 |
416 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs539110951 CA2932230 |
417 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2932231 rs539110951 |
417 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2932232 rs552744964 |
417 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA357006209 rs1578513163 |
419 | T>A | No |
ClinGen Ensembl |
|
CA2932234 rs778391887 |
419 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1560451320 CA357006214 |
420 | M>V | No |
ClinGen Ensembl |
|
CA357006245 rs1346305938 |
424 | K>T | No |
ClinGen TOPMed gnomAD |
|
CA357006266 rs1179513496 |
427 | L>Q | No |
ClinGen gnomAD |
|
CA2932239 rs769566447 |
428 | K>E | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 428 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1378181425 CA357006287 |
430 | T>N | No |
ClinGen gnomAD |
|
TCGA novel | 430 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs762902446 CA2932241 |
431 | K>E | No |
ClinGen ExAC gnomAD |
|
CA2932242 rs768459194 |
432 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774473417 CA2932243 |
433 | R>Q | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 433 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 434 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1370713548 CA357006312 |
434 | E>G | No |
ClinGen gnomAD |
|
CA2932245 rs760836798 |
435 | A>P | No |
ClinGen ExAC gnomAD |
|
rs760836798 CA2932244 |
435 | A>T | No |
ClinGen ExAC gnomAD |
|
rs754044227 CA2932246 |
436 | D>E | No |
ClinGen ExAC gnomAD |
|
rs1041043286 CA97636389 |
436 | D>Y | No |
ClinGen TOPMed |
|
TCGA novel | 437 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs569303832 CA2932247 |
437 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2932248 rs765586309 |
438 | P>H | No |
ClinGen ExAC gnomAD |
|
rs373407636 CA97636413 |
439 | D>G | No |
ClinGen ESP |
|
CA357006349 rs1261755869 |
440 | N>I | No |
ClinGen gnomAD |
|
TCGA novel | 440 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2932249 rs752980074 |
441 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1720897461 RCV001213709 |
442 | T>A | No |
ClinVar dbSNP |
|
rs538429646 CA2932250 |
443 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 446 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA97636417 RCV001313302 rs764285600 |
448 | I>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001053637 rs1720897736 |
448 | I>V | No |
ClinVar dbSNP |
|
rs1560451450 CA357006426 |
451 | T>R | No |
ClinGen Ensembl |
|
TCGA novel | 452 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2932252 rs555004124 |
452 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2932253 rs756699542 |
453 | I>V | No |
ClinGen ExAC gnomAD |
|
rs745483275 CA2932255 |
454 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780685597 CA2932254 |
454 | K>R | No |
ClinGen ExAC gnomAD |
|
rs967056074 CA97636430 |
456 | D>G | No |
ClinGen Ensembl |
|
CA357006455 rs1330817652 |
456 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs1465746551 CA357006466 |
458 | A>T | No |
ClinGen gnomAD |
|
CA357006479 rs1414044696 |
460 | K>E | No |
ClinGen TOPMed |
|
CA357006499 rs1293688056 |
462 | N>K | No |
ClinGen gnomAD |
|
CA2932259 rs768566876 |
462 | N>T | No |
ClinGen ExAC gnomAD |
|
CA2932260 rs774421905 COSM1430334 |
466 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1215291953 CA357006546 |
469 | E>G | No |
ClinGen gnomAD |
|
rs759708208 CA2932264 |
472 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1241455829 CA357006584 |
475 | K>E | No |
ClinGen TOPMed |
|
CA357006597 rs1189076248 |
476 | E>V | No |
ClinGen TOPMed |
|
TCGA novel | 478 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1292699206 CA357006611 |
478 | K>T | No |
ClinGen TOPMed gnomAD |
|
rs753029340 CA2932266 |
479 | P>A | No |
ClinGen ExAC |
|
CA357006621 rs763214077 |
480 | S>P | No |
ClinGen ExAC gnomAD |
|
CA2932267 rs763214077 |
480 | S>T | No |
ClinGen ExAC gnomAD |
|
CA2932270 rs757792826 |
485 | V>A | No |
ClinGen ExAC gnomAD |
|
RCV000895645 rs575170084 CA2932269 |
485 | V>M | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA357006668 rs1290857052 |
487 | Q>P | No |
ClinGen TOPMed |
|
CA357006681 rs1165117154 |
489 | T>S | No |
ClinGen gnomAD |
|
rs1230396425 CA357006698 |
492 | T>S | No |
ClinGen TOPMed |
|
rs749881609 CA97636453 |
493 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA357006704 rs749881609 |
493 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2932273 rs755693790 |
493 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA357006710 rs1560451582 |
494 | K>T | No |
ClinGen Ensembl |
|
TCGA novel | 495 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA357006722 rs1301654600 |
496 | V>L | No |
ClinGen gnomAD |
|
CA2932274 rs779572079 |
497 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM734047 CA357006743 rs1323370113 |
499 | V>E | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
TCGA novel | 499 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1439508558 CA357006780 |
504 | V>M | No |
ClinGen TOPMed |
|
rs534211728 CA2932276 |
506 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs754749492 CA2932277 |
506 | T>R | No |
ClinGen ExAC |
|
RCV001050392 rs1720904030 |
507 | G>E | No |
ClinVar dbSNP |
|
rs1578513720 CA357006804 |
508 | S>G | No |
ClinGen Ensembl |
|
rs201819290 CA2932278 |
509 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA357006828 rs1358952987 |
511 | E>G | No |
ClinGen gnomAD |
|
TCGA novel | 512 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1560451643 CA357006843 |
513 | F>C | No |
ClinGen Ensembl |
|
RCV001244389 CA2932279 rs748046758 |
514 | S>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2932280 rs772110771 |
516 | T>I | No |
ClinGen ExAC gnomAD |
|
CA357006869 rs1447300108 |
517 | K>E | No |
ClinGen gnomAD |
|
CA357006890 rs1451307650 |
519 | S>R | No |
ClinGen TOPMed |
|
CA357006896 rs1578513787 |
520 | K>R | No |
ClinGen Ensembl |
|
CA2932282 rs773320485 |
521 | R>K | No |
ClinGen ExAC gnomAD |
|
CA357006910 rs1483986355 |
522 | K>R | No |
ClinGen gnomAD |
|
rs1393178453 CA357006929 |
525 | V>F | No |
ClinGen TOPMed |
|
CA97636478 rs74802679 |
526 | D>A | No |
ClinGen Ensembl |
|
rs867012825 CA97636481 |
526 | D>E | No |
ClinGen Ensembl |
|
rs1427457994 CA357006940 |
527 | S>G | No |
ClinGen TOPMed gnomAD |
|
rs769974147 CA357006945 |
527 | S>R | No |
ClinGen ExAC gnomAD |
|
rs1247527926 CA357006951 |
528 | H>R | No |
ClinGen TOPMed |
|
RCV001213554 rs1720906927 |
528 | H>Y | No |
ClinVar dbSNP |
|
CA357006959 rs1223990926 |
529 | S>C | No |
ClinGen TOPMed |
|
CA357006972 rs1560451695 |
531 | H>R | No |
ClinGen Ensembl |
|
CA2932285 rs141001113 |
532 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1034671158 CA357006984 |
533 | P>H | No |
ClinGen TOPMed |
|
CA97636491 rs1034671158 |
533 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA2932286 rs763241761 |
537 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA97636495 rs950119056 |
537 | E>K | No |
ClinGen Ensembl |
|
RCV000948276 CA2932287 rs61748754 |
539 | S>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA357007032 rs1452216654 |
540 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1344692204 CA357007027 |
540 | S>T | No |
ClinGen gnomAD |
|
rs762215943 CA2932289 |
543 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 544 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2932290 rs767983452 |
544 | K>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 545 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA357007073 rs562997282 |
546 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2932293 rs765932585 |
546 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
RCV001069474 CA2932292 rs562997282 |
546 | K>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2932296 RCV001305378 rs148966683 |
547 | V>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA357007076 rs754696564 |
547 | V>I | No |
ClinGen ExAC gnomAD |
|
CA357007082 rs1578513979 |
548 | E>A | No |
ClinGen Ensembl |
|
rs758332878 CA2932299 |
550 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA357007105 rs777556718 RCV001337405 |
551 | S>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777556718 CA2932300 |
551 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374809419 CA2932301 |
552 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA357007111 rs1373563459 |
552 | K>R | No |
ClinGen TOPMed |
|
CA2932302 rs769696285 |
553 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1233084710 CA357007122 |
554 | N>D | No |
ClinGen gnomAD |
|
CA357007121 rs1233084710 |
554 | N>H | No |
ClinGen gnomAD |
|
rs770372094 CA97636538 |
555 | S>G | No |
ClinGen Ensembl |
|
CA2932304 rs749464692 |
560 | K>E | No |
ClinGen ExAC gnomAD |
|
rs368950724 CA2932305 |
562 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
RCV001348097 rs1177703488 |
563 | S>I | No |
ClinVar dbSNP |
|
CA357007188 rs1177703488 |
563 | S>T | No |
ClinGen gnomAD |
|
CA2932306 rs774598378 |
568 | N>D | No |
ClinGen ExAC gnomAD |
|
CA2932307 rs762164515 |
568 | N>K | No |
ClinGen ExAC gnomAD |
|
CA2932308 rs541994823 |
569 | K>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2932309 rs541994823 |
569 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA357007246 rs1369415378 |
571 | Q>R | No |
ClinGen gnomAD |
|
rs561677801 CA2932310 |
572 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 573 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
RCV001210246 TCGA novel rs1720913432 |
574 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA dbSNP |
CA357007277 rs1484206596 |
575 | M>I | No |
ClinGen TOPMed |
|
rs1206406732 CA357007272 |
575 | M>V | No |
ClinGen TOPMed |
|
CA2932313 rs753362904 |
576 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2932311 rs765754806 |
576 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA2932314 rs764975553 |
578 | S>N | No |
ClinGen ExAC gnomAD |
|
CA357007294 rs1179161363 |
578 | S>R | No |
ClinGen gnomAD |
|
CA357007299 rs1481592088 |
578 | S>R | No |
ClinGen gnomAD |
|
rs1199978831 | 578 | S>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA97636554 rs940282411 |
579 | T>I | No |
ClinGen TOPMed |
|
CA357007308 rs1200855025 |
580 | K>Q | No |
ClinGen TOPMed gnomAD |
|
rs752454165 CA2932315 RCV001312298 |
583 | T>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs546657732 CA2932316 |
586 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1169703293 CA357007353 |
586 | N>S | No |
ClinGen gnomAD |
|
rs777628511 CA2932317 |
587 | K>T | No |
ClinGen ExAC gnomAD |
|
rs751413133 CA2932318 |
592 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1405313969 CA357007400 |
593 | S>G | No |
ClinGen TOPMed gnomAD |
|
rs890164945 CA97636577 |
593 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA2932319 rs757241783 |
594 | K>N | No |
ClinGen ExAC gnomAD |
|
rs1008600489 CA357007417 |
595 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA97636581 rs1008600489 |
595 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs372976455 CA2932322 |
596 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
rs749346190 CA2932321 |
596 | P>S | No |
ClinGen ExAC gnomAD |
|
CA2932323 rs779100185 |
598 | K>E | No |
ClinGen ExAC gnomAD |
|
CA97636592 rs901145804 |
599 | E>G | No |
ClinGen TOPMed gnomAD |
|
rs748370783 CA2932324 |
600 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772263163 CA2932325 |
600 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA357007448 rs1195906711 |
601 | V>I | No |
ClinGen gnomAD |
|
rs773660811 CA2932326 |
604 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA357007480 rs1475091316 |
605 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1387308478 CA357007499 |
608 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA357007507 rs1578514334 |
609 | D>A | No |
ClinGen Ensembl |
|
rs1302275759 CA357007514 |
610 | P>S | No |
ClinGen gnomAD |
|
CA97636607 rs374180496 |
611 | P>R | No |
ClinGen Ensembl |
|
CA357007525 rs1363425700 |
612 | Q>* | No |
ClinGen gnomAD |
|
rs1401800389 CA357007529 |
612 | Q>H | No |
ClinGen gnomAD |
|
rs771450067 CA2932328 |
613 | M>K | No |
ClinGen ExAC gnomAD |
|
CA357007548 rs1224610611 |
615 | P>L | No |
ClinGen gnomAD |
|
rs1285640601 CA357007553 |
616 | A>T | No |
ClinGen gnomAD |
|
rs1471241534 CA357007568 |
618 | T>R | No |
ClinGen gnomAD |
|
rs1359685376 CA357007571 |
619 | E>A | No |
ClinGen gnomAD |
|
rs759114220 CA2932330 |
619 | E>D | No |
ClinGen ExAC gnomAD |
|
CA97636613 rs1020026657 |
619 | E>K | No |
ClinGen Ensembl |
|
rs142843754 CA2932331 |
620 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA357007585 rs1578514424 |
621 | V>G | No |
ClinGen Ensembl |
|
CA2932334 rs763755642 COSM24350 |
622 | Q>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA2932336 rs757050088 |
624 | G>R | No |
ClinGen ExAC |
|
CA2932337 rs781173916 |
625 | P>S | No |
ClinGen ExAC gnomAD |
|
CA2932339 VAR_029795 rs2228991 |
626 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs778973582 RCV001340513 CA2932340 |
627 | Q>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1181615706 CA357007619 |
627 | Q>R | No |
ClinGen TOPMed |
|
CA2932342 rs748334019 |
628 | V>E | No |
ClinGen ExAC gnomAD |
|
CA2932341 rs748334019 |
628 | V>G | No |
ClinGen ExAC gnomAD |
|
rs538702285 CA97636626 |
628 | V>M | No |
ClinGen Ensembl |
|
rs777908846 CA2932343 |
629 | E>G | No |
ClinGen ExAC gnomAD |
|
CA357007627 rs1383156613 |
629 | E>K | No |
ClinGen gnomAD |
|
rs144905338 RCV001243115 CA2932344 |
630 | P>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1430337 rs958664617 CA97636630 |
630 | P>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA357007639 rs1338160539 |
631 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA97636635 rs202214963 |
632 | P>L | No |
ClinGen gnomAD |
|
CA2932346 rs777213931 |
634 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
RCV001316501 rs1382836181 CA357007654 |
634 | M>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA357007666 rs1312390036 |
635 | E>G | No |
ClinGen gnomAD |
|
rs769381343 CA2932348 |
636 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201189406 CA2932349 |
637 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs762410337 CA2932350 |
637 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA357007687 rs1245071756 |
638 | Q>H | No |
ClinGen gnomAD |
|
TCGA novel | 640 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1461770315 CA357007716 |
642 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA357007717 RCV001315343 rs1461770315 |
642 | A>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2932352 rs763778581 |
643 | Q>H | No |
ClinGen ExAC |
|
CA2932355 rs761661933 COSM1291932 |
645 | R>Q | upper_aerodigestive_tract haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA2932354 RCV001045626 rs138773727 |
645 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs756063859 CA2932358 |
646 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750298956 CA2932357 |
646 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA357007749 rs1560452115 |
648 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA2932359 rs569722591 |
648 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs113122612 CA2932362 RCV000956215 |
649 | D>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1560452139 CA357007763 |
650 | E>D | No |
ClinGen Ensembl |
|
COSM1430338 RCV001324993 CA357007757 rs1334359309 |
650 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
CA357007765 rs1375026161 |
651 | P>T | No |
ClinGen gnomAD |
|
CA2932366 rs752754374 |
653 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA2932368 rs778054714 |
655 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1237525823 CA357007801 |
656 | V>L | No |
ClinGen gnomAD |
|
TCGA novel | 657 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2932370 rs548739943 |
657 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2932369 rs548739943 |
657 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs746337844 CA2932372 |
658 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA2932373 rs568791076 |
658 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs748816108 CA2932375 |
659 | E>K | No |
ClinGen ExAC gnomAD |
|
CA2932376 rs768115863 |
660 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2932377 rs768115863 |
660 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767247227 CA2932379 |
662 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1358568992 CA357007842 |
663 | Q>R | No |
ClinGen gnomAD |
|
CA2932381 rs760516583 |
664 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1264491491 CA357007885 |
670 | V>G | No |
ClinGen TOPMed |
|
COSM1642502 RCV000886788 rs145504954 CA2932385 |
670 | V>M | stomach [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs138787075 CA2932386 |
671 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1285799630 CA357007900 |
672 | P>L | No |
ClinGen gnomAD |
|
CA2932387 RCV001300634 rs556419593 |
673 | A>V | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA357007907 rs1299328056 |
674 | Q>E | No |
ClinGen TOPMed gnomAD |
|
CA97636780 rs908698864 |
675 | M>T | No |
ClinGen TOPMed |
|
rs746211428 CA2932389 |
676 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA357007925 rs746211428 |
676 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA97636786 rs961944647 |
677 | G>R | No |
ClinGen TOPMed |
|
CA357007930 rs1437359126 |
677 | G>V | No |
ClinGen TOPMed |
|
CA2932391 rs367688230 |
678 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2932390 rs367688230 |
678 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs768151863 CA357007966 |
683 | A>D | No |
ClinGen ExAC gnomAD |
|
CA2932393 rs768151863 |
683 | A>V | No |
ClinGen ExAC gnomAD |
|
CA357007974 rs1269579269 |
684 | H>Q | No |
ClinGen gnomAD |
|
rs1720936153 RCV001040286 |
685 | M>I | No |
ClinVar dbSNP |
|
rs778305540 CA2932394 |
685 | M>V | No |
ClinGen ExAC gnomAD |
|
rs747793114 CA2932396 |
686 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs149486440 RCV001320823 CA2932397 |
689 | P>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1169375776 CA357008008 |
690 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA357008012 rs1370978551 |
690 | P>L | No |
ClinGen gnomAD |
|
RCV001351997 rs1169375776 CA357008009 |
690 | P>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2932399 rs770719504 |
691 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2932400 rs776575945 |
691 | M>T | No |
ClinGen ExAC gnomAD |
|
CA357008013 rs770719504 |
691 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs899168099 CA97636820 |
692 | E>* | No |
ClinGen TOPMed |
|
VAR_029796 CA2932401 rs2227902 |
692 | E>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs899168099 CA357008020 |
692 | E>K | No |
ClinGen TOPMed |
|
rs1227375319 CA357008026 COSM1753790 |
693 | T>P | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA357008034 rs1292233494 |
694 | A>S | No |
ClinGen gnomAD |
|
rs1299643587 CA357008040 |
695 | Q>* | No |
ClinGen TOPMed |
|
RCV001340762 rs1299643587 |
695 | Q>E | No |
ClinVar dbSNP |
|
rs141964506 CA2932402 |
696 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2932404 rs780817845 COSM4005783 |
696 | T>M | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
rs1295173943 CA357008054 |
697 | E>G | No |
ClinGen gnomAD |
|
rs572016877 CA2932407 |
698 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs202161415 CA2932406 |
698 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2932408 rs756479154 |
699 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM4005784 rs374016428 CA2932409 |
700 | Q>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs111760333 CA2932411 RCV000956216 |
701 | M>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2932410 rs540877198 |
701 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1485945984 COSM4135825 CA357008081 |
702 | G>R | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA357008088 rs1371722247 |
703 | P>A | No |
ClinGen TOPMed |
|
CA357008093 COSM1753791 rs1446119135 |
704 | A>P | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1422035300 CA357008100 |
705 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA357008103 rs1163756753 |
705 | P>R | No |
ClinGen gnomAD |
|
rs1422035300 CA357008101 |
705 | P>S | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 705 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA357008120 rs1386263469 |
707 | E>D | No |
ClinGen gnomAD |
|
rs1578515207 CA357008125 |
708 | P>H | No |
ClinGen Ensembl |
|
CA2932415 rs771639346 |
709 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA357008132 rs1198920963 |
709 | A>V | No |
ClinGen TOPMed |
|
CA2932416 rs777342086 |
710 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1247969810 CA357008162 |
713 | V>G | No |
ClinGen TOPMed |
|
rs746680187 CA2932417 |
714 | A>S | No |
ClinGen ExAC gnomAD |
|
rs746680187 CA357008163 |
714 | A>T | No |
ClinGen ExAC gnomAD |
|
CA2932418 rs770664440 |
714 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1024260073 CA97636865 |
716 | V>A | No |
ClinGen gnomAD |
|
CA357008175 rs1204179439 |
716 | V>I | No |
ClinGen TOPMed |
|
rs543390185 CA2932421 |
719 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed |
|
CA2932422 rs775554187 |
719 | A>V | No |
ClinGen ExAC gnomAD |
|
CA97636875 rs1004072098 |
722 | Q>E | No |
ClinGen TOPMed |
|
rs1208592065 CA357008236 |
725 | Q>R | No |
ClinGen TOPMed |
|
rs750612169 CA2932425 |
728 | P>R | No |
ClinGen ExAC gnomAD |
|
rs572960260 CA97636881 |
728 | P>S | No |
ClinGen gnomAD |
|
CA357008260 rs1255538537 |
729 | V>L | No |
ClinGen TOPMed |
|
COSM1294146 COSM734045 CA2932428 rs766722655 |
731 | M>I | lung cervix [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
CA357008292 rs1333116508 |
733 | L>P | No |
ClinGen TOPMed |
|
CA357008298 rs1286614883 |
734 | S>F | No |
ClinGen TOPMed |
|
rs754117527 CA2932429 |
734 | S>T | No |
ClinGen ExAC gnomAD |
|
CA2932431 rs528953101 |
735 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs141166149 CA2932430 |
735 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs61754065 CA357008304 |
736 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs61754065 CA2932432 RCV001354442 RCV000948680 |
736 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA97636908 rs568623889 |
738 | E>Q | No |
ClinGen 1000Genomes TOPMed |
|
CA97636909 rs748898141 |
739 | V>G | No |
ClinGen TOPMed |
|
CA357008344 rs1172721722 |
742 | K>E | No |
ClinGen TOPMed |
|
rs757849649 CA2932433 RCV001299646 |
742 | K>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000760805 rs777288773 CA357008351 |
743 | E>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs777288773 CA2932434 |
743 | E>K | No |
ClinGen ExAC gnomAD |
|
rs878887117 CA97636913 |
745 | V>D | No |
ClinGen Ensembl |
|
CA97636911 rs775811215 |
745 | V>L | No |
ClinGen gnomAD |
|
CA2932438 rs200745456 |
746 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs149964103 CA2932436 |
746 | Q>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
RCV000949906 rs770752350 |
746 | Q>missing | No |
ClinVar dbSNP |
|
rs144031960 CA97636925 |
747 | I>M | No |
ClinGen TOPMed gnomAD |
|
rs539480483 CA2932440 |
751 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA357008399 rs1446031877 |
751 | P>S | No |
ClinGen gnomAD |
|
rs267600197 CA2932442 |
752 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs267600197 COSM24349 CA97636932 |
752 | P>T | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs369803397 RCV001224630 |
753 | M>missing | No |
ClinVar dbSNP |
|
rs544207693 RCV001213261 CA97636942 |
753 | M>I | No |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
CA97636943 rs945526581 |
755 | V>L | No |
ClinGen Ensembl |
|
rs1266500956 CA357008429 |
756 | V>F | No |
ClinGen TOPMed |
|
rs1325154191 CA357008437 |
757 | Q>R | No |
ClinGen gnomAD |
|
TCGA novel | 758 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1203720039 CA357008449 |
759 | E>K | No |
ClinGen gnomAD |
|
rs1016195062 CA97636959 |
760 | P>R | No |
ClinGen TOPMed gnomAD |
|
CA2932446 rs775222659 |
760 | P>S | No |
ClinGen ExAC gnomAD |
|
CA97636969 rs879137197 |
761 | V>D | No |
ClinGen Ensembl |
|
rs1042548096 CA97636965 |
761 | V>F | No |
ClinGen TOPMed |
|
VAR_029797 rs2227903 CA2932447 |
762 | K>Q | No |
ClinGen UniProt 1000Genomes ESP TOPMed dbSNP gnomAD |
|
RCV001235982 rs775068300 |
762 | K>missing | No |
ClinVar dbSNP |
|
CA357008477 rs1470681199 |
763 | I>M | No |
ClinGen gnomAD |
|
rs555145007 CA2932449 |
763 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA357008488 rs1410394195 |
765 | L>Q | No |
ClinGen gnomAD |
|
CA357008495 rs1181877521 |
766 | S>C | No |
ClinGen TOPMed gnomAD |
|
CA357008496 rs1181877521 |
766 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs145232477 CA2932450 |
767 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
rs145232477 CA357008501 |
767 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
CA97636979 rs977418231 |
768 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA2932453 rs766485057 |
769 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
RCV001312545 CA2932452 rs574694774 |
769 | I>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2932454 rs776981803 |
771 | V>M | No |
ClinGen ExAC gnomAD |
|
CA357008525 rs1161315689 |
772 | V>I | No |
ClinGen TOPMed |
|
CA2932455 rs199816806 RCV001323699 |
773 | Q>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1342172031 CA357008552 |
775 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA2932456 rs765650440 |
775 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1189478455 CA357008548 |
775 | E>Q | No |
ClinGen TOPMed |
|
rs61748756 CA2932457 |
776 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA357008555 rs1417816562 |
776 | P>H | No |
ClinGen gnomAD |
|
RCV001058129 rs1417816562 |
776 | P>L | No |
ClinVar dbSNP |
|
rs61748756 CA357008554 |
776 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA357008565 rs1438822320 |
778 | Q>E | No |
ClinGen gnomAD |
|
CA2932460 rs751048298 |
778 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA2932459 rs146786246 |
778 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs756848835 CA2932461 |
779 | M>I | No |
ClinGen ExAC TOPMed |
|
CA97637005 rs537388979 |
779 | M>L | No |
ClinGen TOPMed |
|
CA97637002 rs537388979 |
779 | M>V | No |
ClinGen TOPMed |
|
rs1059742 CA97637007 |
780 | E>* | No |
ClinGen Ensembl |
|
RCV001229697 CA97637009 rs1015434923 |
780 | E>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
rs745537305 CA2932463 |
782 | S>C | No |
ClinGen ExAC gnomAD |
|
CA97637018 rs370561076 |
783 | P>L | No |
ClinGen gnomAD |
|
CA2932464 rs755806745 RCV001305547 |
783 | P>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2932465 rs577847008 |
784 | P>L | No |
ClinGen 1000Genomes ExAC |
|
rs946812694 CA97637022 |
785 | M>I | No |
ClinGen TOPMed |
|
CA2932467 rs140408965 |
785 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs543071771 CA2932466 |
785 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs867079701 CA97637026 |
786 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs867079701 CA357008613 |
786 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs774475413 CA2932468 |
787 | V>L | No |
ClinGen ExAC gnomAD |
|
rs1414206080 CA357008622 |
788 | V>A | No |
ClinGen TOPMed |
|
CA2932469 rs747085895 |
790 | K>E | No |
ClinGen ExAC gnomAD |
|
rs771051680 CA2932470 |
791 | E>D | No |
ClinGen ExAC gnomAD |
|
CA97637036 rs923771558 |
791 | E>K | No |
ClinGen TOPMed |
|
rs368741258 CA97637047 |
793 | A>S | No |
ClinGen ESP TOPMed |
|
CA357008664 rs1449789511 |
794 | Q>H | No |
ClinGen gnomAD |
|
CA2932473 VAR_029798 rs3796529 |
797 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs764572450 CA2932476 |
798 | P>L | No |
ClinGen ExAC gnomAD |
|
rs763356980 CA2932475 |
798 | P>S | No |
ClinGen ExAC gnomAD |
|
rs752126612 CA2932477 |
799 | P>L | No |
ClinGen ExAC gnomAD |
|
CA2932478 rs140815829 |
800 | P>S | No |
ClinGen ESP ExAC TOPMed |
|
rs1449982377 CA357008710 |
802 | E>G | No |
ClinGen gnomAD |
|
CA97637075 rs895101219 |
803 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA357008719 rs1268132542 |
804 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs767066151 CA2932479 |
805 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1166872019 COSM3714931 CA357008728 |
805 | L>R | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs767066151 CA2932480 |
805 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2932481 rs755818796 |
806 | H>N | No |
ClinGen ExAC gnomAD |
|
CA2932482 rs372216068 |
807 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs753660418 CA2932483 |
808 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1263966292 CA357008758 |
810 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs1211990605 CA357008768 |
811 | S>C | No |
ClinGen TOPMed |
|
CA357008774 rs1388447579 |
812 | K>R | No |
ClinGen gnomAD |
|
rs374822603 CA2932485 |
814 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA357008787 rs754874352 |
814 | P>S | No |
ClinGen ExAC gnomAD |
|
CA2932484 rs754874352 |
814 | P>T | No |
ClinGen ExAC gnomAD |
|
rs114282228 CA2932488 |
815 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1430340 CA2932489 rs745977591 |
817 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA357008806 rs1385520032 |
818 | K>E | No |
ClinGen gnomAD |
|
rs148677477 CA357008819 |
819 | D>E | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
CA357008824 rs1578516139 |
820 | K>T | No |
ClinGen Ensembl |
|
RCV000677291 rs1553904359 |
822 | E>missing | No |
ClinVar dbSNP |
|
rs978194547 CA97637134 |
825 | N>D | No |
ClinGen Ensembl |
|
CA2932492 rs754996610 |
826 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA97637145 rs754996610 |
826 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763298291 CA2932494 |
827 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA2932493 rs775747740 |
827 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1207371267 CA357008882 |
828 | S>N | No |
ClinGen gnomAD |
|
RCV001054651 CA2932495 rs146942863 |
829 | E>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1169086243 CA357008887 |
829 | E>K | No |
ClinGen TOPMed |
|
CA357008894 rs1421788780 |
830 | R>G | No |
ClinGen TOPMed |
|
CA357008898 rs1578516206 |
830 | R>M | No |
ClinGen Ensembl |
|
CA357008900 rs1464450663 |
830 | R>S | No |
ClinGen gnomAD |
|
RCV001037851 rs774780252 CA2932496 |
831 | A>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2932498 rs766894826 |
832 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs367963860 RCV001303688 CA2932497 |
832 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
CA357008909 rs1186549954 |
833 | K>Q | No |
ClinGen gnomAD |
|
CA357008925 rs1455309474 |
835 | Q>K | No |
ClinGen gnomAD |
|
TCGA novel | 836 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs866545099 CA97637186 |
837 | L>P | No |
ClinGen Ensembl |
|
CA2932501 rs766112311 |
838 | I>T | No |
ClinGen ExAC gnomAD |
|
CA2932504 rs778875167 |
839 | E>D | No |
ClinGen ExAC gnomAD |
|
rs752540485 CA2932505 |
840 | V>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 842 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2932506 rs758327399 |
842 | L>F | No |
ClinGen ExAC gnomAD |
|
rs564650387 CA2932507 |
843 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA357008989 rs1339003277 |
845 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs1312502963 CA357008987 RCV001348713 |
845 | V>F | No |
ClinGen ClinVar dbSNP gnomAD |
|
rs181578247 CA2932508 |
847 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA357009000 rs1241820239 |
847 | D>H | No |
ClinGen gnomAD |
|
CA357009013 rs1206868170 |
848 | S>R | No |
ClinGen TOPMed gnomAD |
|
rs780183397 CA2932510 |
849 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1275958087 CA357009019 |
849 | W>L | No |
ClinGen TOPMed |
|
rs749525936 CA2932511 |
850 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA357009043 rs1182521923 |
853 | E>G | No |
ClinGen gnomAD |
|
CA2932514 rs143324668 RCV000882604 |
853 | E>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1411109400 CA357009048 |
854 | S>G | No |
ClinGen gnomAD |
|
rs1471354248 CA357009062 |
856 | S>G | No |
ClinGen TOPMed gnomAD |
|
rs1406128387 CA357009088 |
859 | D>G | No |
ClinGen gnomAD |
|
CA2932516 rs773645911 |
860 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA97637217 rs868705266 |
860 | L>I | No |
ClinGen Ensembl |
|
CA357009094 rs773645911 |
860 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA357009106 rs1300652443 |
862 | P>L | No |
ClinGen gnomAD |
|
rs1400586734 CA357009111 |
863 | P>R | No |
ClinGen gnomAD |
|
rs372493611 CA97637237 |
864 | S>P | No |
ClinGen ESP |
|
rs374232811 CA2932520 |
866 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
rs753496340 CA357009138 |
868 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753496340 CA2932521 |
868 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1174131327 CA357009136 |
868 | P>S | No |
ClinGen TOPMed |
|
rs759296836 CA2932522 |
871 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 871 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs765022916 CA2932523 |
874 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1232885076 CA357009185 |
875 | E>* | No |
ClinGen gnomAD |
|
TCGA novel | 880 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2932524 rs200452180 |
882 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2932525 rs758185890 |
882 | L>S | No |
ClinGen ExAC gnomAD |
|
CA357009240 rs1482052234 |
883 | L>I | No |
ClinGen gnomAD |
|
CA357009250 rs1560453233 |
884 | N>K | No |
ClinGen Ensembl |
|
rs144259100 CA2932527 |
885 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs756127300 CA2932528 |
885 | T>I | No |
ClinGen ExAC gnomAD |
|
CA357009261 rs1578516513 |
886 | G>V | No |
ClinGen Ensembl |
|
TCGA novel | 887 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2932529 rs780130348 |
888 | G>E | No |
ClinGen ExAC gnomAD |
|
rs749471105 CA97637284 |
893 | P>A | No |
ClinGen ExAC gnomAD |
|
rs755158365 CA2932531 |
893 | P>L | No |
ClinGen ExAC gnomAD |
|
rs749471105 CA2932530 |
893 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1305477281 CA357009319 |
895 | Q>H | No |
ClinGen TOPMed gnomAD |
|
CA357009317 rs1238004515 |
895 | Q>R | No |
ClinGen Ensembl |
|
CA2932535 rs371392326 |
897 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1430341 CA97637317 rs867829350 |
899 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
rs773713906 CA2932536 |
903 | D>G | No |
ClinGen ExAC gnomAD |
|
CA357009368 rs1309512092 |
903 | D>N | No |
ClinGen gnomAD |
|
CA357009380 rs1273658722 |
904 | E>D | No |
ClinGen gnomAD |
|
rs747543922 CA2932537 |
905 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1351520978 CA357009384 |
905 | S>N | No |
ClinGen gnomAD |
|
CA97637325 rs1037391182 |
907 | P>R | No |
ClinGen Ensembl |
|
rs770528961 CA2932538 |
909 | L>F | No |
ClinGen ExAC gnomAD |
|
RCV000937214 CA2932539 rs776254331 |
910 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764969815 CA2932541 |
911 | A>D | No |
ClinGen ExAC gnomAD |
|
rs759167194 CA2932540 |
911 | A>T | No |
ClinGen ExAC gnomAD |
|
rs775073659 CA2932543 |
912 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA357009421 rs1226231366 |
912 | N>Y | No |
ClinGen TOPMed |
|
rs763808162 CA2932544 |
914 | N>D | No |
ClinGen ExAC gnomAD |
|
rs757216362 CA357009437 |
914 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2932545 rs751463729 |
914 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2932547 COSM1056342 rs372214552 |
915 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA2932548 rs753888665 |
916 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA2932549 rs374825536 |
918 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs777215075 CA97637350 |
918 | H>Y | No |
ClinGen Ensembl |
|
rs1297121603 CA357009479 |
921 | S>F | No |
ClinGen TOPMed gnomAD |
|
CA2932550 rs779188313 |
921 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748320177 CA2932551 |
922 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA357009489 rs1247853778 |
923 | G>E | No |
ClinGen gnomAD |
|
rs1284461687 CA357009491 |
924 | Q>E | No |
ClinGen gnomAD |
|
CA357009495 rs1290561917 |
924 | Q>R | No |
ClinGen gnomAD |
|
CA2932553 rs557500462 |
927 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2932554 rs747423176 RCV001248568 COSM3409383 |
928 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
rs1244469586 CA357009531 |
929 | P>L | No |
ClinGen TOPMed |
|
rs1245786650 CA357009538 |
930 | E>D | No |
ClinGen gnomAD |
|
rs1448099045 CA357009542 |
931 | G>S | No |
ClinGen gnomAD |
|
CA2932555 rs771546534 |
932 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777335033 CA2932556 |
933 | T>I | No |
ClinGen ExAC gnomAD |
|
CA2932558 rs769193151 |
934 | L>S | No |
ClinGen ExAC gnomAD |
|
CA97637390 rs1048969204 |
935 | N>S | No |
ClinGen TOPMed |
|
rs1347101010 CA357009576 |
936 | G>V | No |
ClinGen gnomAD |
|
rs887450489 CA97637393 |
937 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs887450489 CA357009580 |
937 | K>T | No |
ClinGen TOPMed gnomAD |
|
CA2932560 rs762533235 RCV001313088 |
938 | H>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2932559 rs775148858 |
938 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs889882721 CA97637397 |
940 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA97637402 RCV001319263 rs61312656 |
942 | S>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
TCGA novel | 942 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2932563 rs761641120 |
943 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1309039210 CA357009624 |
944 | V>I | No |
ClinGen gnomAD |
|
CA2932564 rs767425000 |
945 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 948 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA97637416 rs901618529 |
948 | K>R | No |
ClinGen TOPMed |
|
rs1207531505 CA357009664 |
949 | M>T | No |
ClinGen gnomAD |
|
CA2932565 rs199520565 |
951 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2932566 rs199520565 |
951 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV000923812 CA2932568 rs148565623 |
952 | D>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs765258656 CA2932567 |
952 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA2932569 rs758521937 |
953 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA357009688 rs758521937 |
953 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs958211796 CA97637436 |
956 | R>G | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 957 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA357009720 rs1578516983 |
957 | E>G | No |
ClinGen Ensembl |
|
CA2932572 rs757762660 |
962 | I>M | No |
ClinGen ExAC gnomAD |
|
CA2932573 rs200509833 |
965 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2932574 rs746393027 |
965 | T>R | No |
ClinGen ExAC gnomAD |
|
CA2932576 rs769297005 |
966 | V>A | No |
ClinGen ExAC gnomAD |
|
CA2932575 rs769297005 |
966 | V>G | No |
ClinGen ExAC gnomAD |
|
CA2932577 rs748869206 |
967 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1186198032 CA357009781 |
967 | E>G | No |
ClinGen TOPMed |
|
CA357009795 rs1299865863 |
969 | P>R | No |
ClinGen gnomAD |
|
CA2932580 RCV001347368 rs761587815 |
970 | V>D | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs774044957 CA357009798 |
970 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2932579 rs774044957 |
970 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771856015 CA2932581 |
972 | P>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 972 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1385254403 CA357009817 |
973 | M>I | No |
ClinGen gnomAD |
|
rs773073831 CA2932582 |
973 | M>V | No |
ClinGen ExAC gnomAD |
|
CA2932584 rs766383284 |
975 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766383284 CA97637483 |
975 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760563478 CA2932583 |
975 | P>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 976 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2932585 rs529390824 |
976 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA357009839 COSM3714933 rs1336617929 |
977 | S>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA357009840 rs1483684662 |
978 | A>S | No |
ClinGen gnomAD |
|
COSM108589 rs140574038 CA97637488 |
980 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
COSM247006 CA2932587 rs764218596 |
981 | E>D | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
RCV001058230 CA2932586 rs763155357 |
981 | E>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2932589 rs200147565 |
982 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs200147565 CA2932588 |
982 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781705605 CA2932590 |
982 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781705605 CA357009870 |
982 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA357009871 rs1578517169 |
983 | E>K | No |
ClinGen Ensembl |
|
CA97637502 rs144529300 COSM110398 |
986 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA357009908 rs1172312135 |
988 | T>I | No |
ClinGen gnomAD |
|
rs145436917 CA97637509 |
988 | T>P | No |
ClinGen Ensembl |
|
rs780658486 CA2932593 |
990 | L>P | No |
ClinGen ExAC gnomAD |
|
CA357009930 rs1560453737 |
992 | S>L | No |
ClinGen Ensembl |
|
rs748731008 CA2932594 |
993 | P>L | No |
ClinGen ExAC gnomAD |
|
CA2932596 rs778468524 |
996 | T>A | No |
ClinGen ExAC gnomAD |
|
CA357009957 rs1273927240 |
997 | M>R | No |
ClinGen gnomAD |
|
CA2932597 rs373733071 |
997 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1720989281 RCV001296645 |
998 | A>T | No |
ClinVar dbSNP |
|
CA2932598 rs771817079 |
998 | A>V | No |
ClinGen ExAC gnomAD |
|
RCV001326110 rs1720989470 |
999 | A>G | No |
ClinVar dbSNP |
|
rs772963466 CA2932599 |
1000 | N>S | No |
ClinGen ExAC gnomAD |
|
CA2932601 rs770764679 |
1002 | S>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1002 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA357009992 rs1205147847 |
1003 | Q>K | No |
ClinGen gnomAD |
|
rs762874553 CA2932603 |
1003 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs1453449668 CA357009999 |
1004 | E>* | No |
ClinGen gnomAD |
|
rs1578517302 CA357010008 |
1005 | I>V | No |
ClinGen Ensembl |
|
CA2932605 rs764284810 |
1006 | D>A | No |
ClinGen ExAC gnomAD |
|
CA97637552 rs775184173 |
1009 | E>K | No |
ClinGen Ensembl |
|
rs1560453803 CA357010051 |
1011 | I>V | No |
ClinGen Ensembl |
|
CA2932609 rs767890078 |
1014 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs1428868605 CA357010076 |
1014 | H>R | No |
ClinGen gnomAD |
|
rs1368071244 CA357010088 |
1016 | G>R | No |
ClinGen TOPMed |
|
CA2932610 rs750731942 |
1018 | D>E | No |
ClinGen ExAC gnomAD |
|
CA357010110 rs1405828762 |
1019 | L>V | No |
ClinGen gnomAD |
|
CA357010117 rs1167234532 |
1020 | S>N | No |
ClinGen TOPMed |
|
CA2932611 rs756559394 |
1022 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA357010134 rs756559394 |
1022 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA97637560 rs916420522 |
1024 | S>L | No |
ClinGen TOPMed gnomAD |
|
rs766787851 CA2932612 |
1026 | G>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1027 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2932614 rs559520154 |
1031 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs572949989 CA97637587 |
1033 | H>P | No |
ClinGen 1000Genomes |
|
RCV001215115 rs572949989 |
1033 | H>R | No |
ClinVar dbSNP |
|
CA357010219 rs1359116352 |
1035 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs777464251 CA2932620 |
1036 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777464251 CA2932619 |
1036 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2932618 rs777464251 |
1036 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2932617 rs201033957 |
1036 | R>W | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA357010231 rs1490774064 |
1037 | P>L | No |
ClinGen TOPMed |
|
TCGA novel | 1039 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs369445358 CA97637598 |
1041 | E>A | No |
ClinGen Ensembl |
|
CA2932622 rs745842034 |
1043 | S>G | No |
ClinGen ExAC gnomAD |
|
CA357010280 rs1248852548 |
1045 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA357010279 rs1248852548 |
1045 | K>Q | No |
ClinGen TOPMed gnomAD |
|
rs768815266 CA2932623 |
1045 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1251981173 CA357010290 |
1046 | N>I | No |
ClinGen TOPMed |
|
TCGA novel | 1046 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1204389518 | 1046 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
RCV001306516 rs1251981173 |
1046 | N>S | No |
ClinVar dbSNP |
|
CA357010304 rs1369937901 |
1048 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA2932625 rs762032850 |
1050 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762032850 CA97637604 |
1050 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1306515151 CA357010333 |
1053 | V>I | No |
ClinGen TOPMed |
|
rs1320856752 CA357010343 |
1054 | K>R | No |
ClinGen gnomAD |
|
RCV001235209 CA2932630 rs201227059 |
1055 | A>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1295869249 CA357010354 |
1056 | A>D | No |
ClinGen gnomAD |
|
CA97637623 rs529281885 |
1056 | A>S | No |
ClinGen 1000Genomes |
|
rs867254323 CA97637627 |
1057 | K>E | No |
ClinGen gnomAD |
|
CA357010373 rs1464097351 |
1059 | D>G | No |
ClinGen TOPMed |
|
CA2932633 rs752194030 |
1059 | D>Y | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1060 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1376768817 CA357010380 |
1060 | F>Y | No |
ClinGen TOPMed |
|
CA2932634 rs757974590 |
1061 | V>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1064 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA357010449 rs1268793336 |
1070 | R>G | No |
ClinGen gnomAD |
|
CA357010460 rs1464637092 |
1071 | K>R | No |
ClinGen gnomAD |
|
CA357010475 rs1176300291 |
1073 | K>R | No |
ClinGen TOPMed |
|
rs746688243 CA2932636 |
1074 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1481192169 CA357010495 |
1076 | S>G | No |
ClinGen TOPMed |
|
rs756954268 CA2932637 |
1077 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs116290363 CA2932638 |
1080 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM1056348 rs745688107 CA2932639 |
1081 | R>C | large_intestine endometrium Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA357010581 RCV001212116 rs1385129832 |
1088 | Y>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA357010586 rs1410495744 |
1089 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA357010601 rs1304212419 |
1091 | E>A | No |
ClinGen TOPMed gnomAD |
|
CA357010603 rs1304212419 |
1091 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA97637659 rs867564643 |
1091 | E>K | No |
ClinGen Ensembl |
|
rs769830765 CA2932641 |
1092 | A>S | No |
ClinGen ExAC gnomAD |
|
rs922903250 CA97637660 |
1095 | G>E | No |
ClinGen TOPMed |
4 associated diseases with Q13127
[MIM: 616806]: Wilms tumor 6 (WT6)
A pediatric malignancy of kidney, and the most common childhood abdominal malignancy. It is caused by the uncontrolled multiplication of renal stem, stromal, and epithelial cells. {ECO:0000269|PubMed:26551668}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 617626]: Fibromatosis, gingival, 5 (GINGF5)
An autosomal dominant form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. {ECO:0000269|PubMed:28686854}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 612431]: Deafness, autosomal dominant, 27 (DFNA27)
A form of non-syndromic deafness characterized by postlingual, progressive, moderate to profound sensorineural hearing loss. {ECO:0000269|PubMed:29961578}. Note=The disease may be caused by variants affecting the gene represented in this entry. An intronic variant that affects alternative splicing of REST and inactivation of REST repressor activity fully segregates with deafness in a 3-generation family. {ECO:0000269|PubMed:29961578}.
Without disease ID
- A pediatric malignancy of kidney, and the most common childhood abdominal malignancy. It is caused by the uncontrolled multiplication of renal stem, stromal, and epithelial cells. {ECO:0000269|PubMed:26551668}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- An autosomal dominant form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. {ECO:0000269|PubMed:28686854}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of non-syndromic deafness characterized by postlingual, progressive, moderate to profound sensorineural hearing loss. {ECO:0000269|PubMed:29961578}. Note=The disease may be caused by variants affecting the gene represented in this entry. An intronic variant that affects alternative splicing of REST and inactivation of REST repressor activity fully segregates with deafness in a 3-generation family. {ECO:0000269|PubMed:29961578}.
9 regional properties for Q13127
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Zinc finger C2H2-type | 159 - 186 | IPR013087-1 |
domain | Zinc finger C2H2-type | 216 - 238 | IPR013087-2 |
domain | Zinc finger C2H2-type | 248 - 270 | IPR013087-3 |
domain | Zinc finger C2H2-type | 276 - 303 | IPR013087-4 |
domain | Zinc finger C2H2-type | 304 - 331 | IPR013087-5 |
domain | Zinc finger C2H2-type | 332 - 360 | IPR013087-6 |
domain | Zinc finger C2H2-type | 361 - 388 | IPR013087-7 |
domain | Zinc finger C2H2-type | 389 - 412 | IPR013087-8 |
domain | Zinc finger C2H2-type | 1060 - 1082 | IPR013087-9 |
Functions
5 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
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. |
transcription repressor complex | A protein complex that possesses activity that prevents or downregulates transcription. |
9 GO annotations of molecular function
Name | Definition |
---|---|
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 transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
DNA-binding transcription repressor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II. |
identical protein binding | Binding to an identical protein or proteins. |
metal ion binding | Binding to a metal ion. |
RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
RNA polymerase II core promoter sequence-specific DNA binding | Binding to a DNA sequence that is part of the core promoter of a RNA polymerase II-transcribed gene. |
RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
transcription cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
44 GO annotations of biological process
Name | Definition |
---|---|
auditory receptor cell stereocilium organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a stereocilium. A stereocilium is an actin-based protrusion from the apical surface of auditory hair cells. |
cardiac muscle cell myoblast differentiation | The process in which a relatively unspecialized cell acquires specialized features of a cardiac myoblast. A cardiac myoblast is a precursor cell that has been committed to a cardiac muscle cell fate but retains the ability to divide and proliferate throughout life. |
cellular response to electrical stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electrical stimulus. |
cellular response to glucocorticoid stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucocorticoid stimulus. Glucocorticoids are hormonal C21 corticosteroids synthesized from cholesterol with the ability to bind with the cortisol receptor and trigger similar effects. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects. |
cellular response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
detection of mechanical stimulus involved in sensory perception of sound | The series of events involved in the perception of sound vibration in which the vibration is received and converted into a molecular signal. |
hematopoietic progenitor cell differentiation | The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. |
histone H4 deacetylation | The modification of histone H4 by the removal of one or more acetyl groups. |
modification of synaptic structure | Any process that modifies the structure/morphology of a synapse. |
negative regulation by host of viral transcription | Any process in which a host organism stops, prevents, or reduces the frequency, rate or extent of viral transcription. |
negative regulation of aldosterone biosynthetic process | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of aldosterone. |
negative regulation of amniotic stem cell differentiation | Any process that stops, prevents or reduces the frequency, rate or extent of amniotic stem cell differentiation. |
negative regulation of calcium ion-dependent exocytosis | Any process that stops, prevents, or reduces the frequency, rate or extent of calcium ion-dependent exocytosis. |
negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
negative regulation of cortisol biosynthetic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cortisol biosynthetic process. |
negative regulation of dense core granule biogenesis | Any process that stops, prevents or reduces the frequency, rate or extent of dense core granule biogenesis. |
negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
negative regulation of insulin secretion | Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of insulin. |
negative regulation of mesenchymal stem cell differentiation | Any process that stops, prevents or reduces the frequency, rate or extent of mesenchymal stem cell differentiation. |
negative regulation of miRNA transcription | Any process that stops, prevents or reduces the frequency, rate or extent of microRNA (miRNA) gene transcription. |
negative regulation of neurogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system. |
negative regulation of neuron differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation. |
negative regulation of oxidative stress-induced neuron death | Any process that stops, prevents or reduces the frequency, rate or extent of oxidative stress-induced neuron death. |
negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
negative regulation of transcription regulatory region DNA binding | Any process that stops, prevents or reduces the frequency, rate or extent of transcription regulatory region DNA binding. |
neuromuscular process controlling balance | Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors. |
neuronal stem cell population maintenance | Any process in by an organism or tissue maintains a population of neuronal stem cells. |
positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that activates or increases the activity of a cysteine-type endopeptidase involved in the apoptotic process. |
positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
positive regulation of neuron differentiation | Any process that activates or increases the frequency, rate or extent of neuron differentiation. |
positive regulation of oxidative stress-induced neuron death | Any process that activates or increases the frequency, rate or extent of oxidative stress-induced neuron death. |
positive regulation of stem cell population maintenance | Any process that activates or increases the frequency, rate or extent of stem cell population maintenance. |
positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
regulation of alternative mRNA splicing, via spliceosome | Any process that modulates the frequency, rate or extent of alternative splicing of nuclear mRNAs. |
regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
regulation of osteoblast differentiation | Any process that modulates the frequency, rate or extent of osteoblast differentiation. |
regulation of oxidative stress-induced neuron death | Any process that modulates the frequency, rate or extent of oxidative stress-induced neuron death. |
response to hypoxia | 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 indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
response to ischemia | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply. |
somatic stem cell population maintenance | Any process by which an organism retains a population of somatic stem cells, undifferentiated cells in the embryo or adult which can undergo unlimited division and give rise to cell types of the body other than those of the germ-line. |
177 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q08DS3 | OSR1 | Protein odd-skipped-related 1 | Bos taurus (Bovine) | PR |
Q2VWH6 | FEZF2 | Fez family zinc finger protein 2 | Bos taurus (Bovine) | PR |
A6QNZ0 | ZSCAN26 | Zinc finger and SCAN domain-containing protein 26 | Bos taurus (Bovine) | PR |
A7MBI1 | ZFP69 | Zinc finger protein 69 homolog | Bos taurus (Bovine) | PR |
Q08705 | CTCF | Transcriptional repressor CTCF | Gallus gallus (Chicken) | PR |
O42409 | GFI1B | Zinc finger protein Gfi-1b | Gallus gallus (Chicken) | PR |
A2T6W2 | ZNF449 | Zinc finger protein 449 | Pan troglodytes (Chimpanzee) | PR |
Q9U405 | grau | Transcription factor grauzone | Drosophila melanogaster (Fruit fly) | PR |
Q7K0S9 | sug | Zinc finger protein GLIS2 homolog | Drosophila melanogaster (Fruit fly) | PR |
P20385 | Cf2 | Chorion transcription factor Cf2 | Drosophila melanogaster (Fruit fly) | PR |
Q86P48 | ATbp | AT-rich binding protein | Drosophila melanogaster (Fruit fly) | PR |
P28698 | MZF1 | Myeloid zinc finger 1 | Homo sapiens (Human) | PR |
O14978 | ZNF263 | Zinc finger protein 263 | Homo sapiens (Human) | PR |
O60304 | ZNF500 | Zinc finger protein 500 | Homo sapiens (Human) | PR |
P08151 | GLI1 | Zinc finger protein GLI1 | Homo sapiens (Human) | PR |
Q9UFB7 | ZBTB47 | Zinc finger and BTB domain-containing protein 47 | Homo sapiens (Human) | PR |
P18146 | EGR1 | Early growth response protein 1 | Homo sapiens (Human) | PR |
Q9Y5W3 | KLF2 | Krueppel-like factor 2 | Homo sapiens (Human) | PR |
Q9UNY5 | ZNF232 | Zinc finger protein 232 | Homo sapiens (Human) | PR |
Q96SZ4 | ZSCAN10 | Zinc finger and SCAN domain-containing protein 10 | Homo sapiens (Human) | PR |
P17028 | ZNF24 | Zinc finger protein 24 | Homo sapiens (Human) | PR |
P57682 | KLF3 | Krueppel-like factor 3 | Homo sapiens (Human) | PR |
P25490 | YY1 | Transcriptional repressor protein YY1 | Homo sapiens (Human) | SS |
O43296 | ZNF264 | Zinc finger protein 264 | Homo sapiens (Human) | PR |
P49711 | CTCF | Transcriptional repressor CTCF | Homo sapiens (Human) | PR |
Q9NQX1 | PRDM5 | PR domain zinc finger protein 5 | Homo sapiens (Human) | PR |
Q9HBE1 | PATZ1 | POZ-, AT hook-, and zinc finger-containing protein 1 | Homo sapiens (Human) | PR |
Q8TAX0 | OSR1 | Protein odd-skipped-related 1 | Homo sapiens (Human) | PR |
Q9UL58 | ZNF215 | Zinc finger protein 215 | Homo sapiens (Human) | PR |
Q8TBJ5 | FEZF2 | Fez family zinc finger protein 2 | Homo sapiens (Human) | PR |
Q96SR6 | ZNF382 | Zinc finger protein 382 | Homo sapiens (Human) | PR |
Q96IT1 | ZNF496 | Zinc finger protein 496 | Homo sapiens (Human) | PR |
Q96N95 | ZNF396 | Zinc finger protein 396 | Homo sapiens (Human) | PR |
Q9ULJ3 | ZBTB21 | Zinc finger and BTB domain-containing protein 21 | Homo sapiens (Human) | PR |
O75840 | KLF7 | Krueppel-like factor 7 | Homo sapiens (Human) | PR |
Q9H9D4 | ZNF408 | Zinc finger protein 408 | Homo sapiens (Human) | PR |
Q8IZM8 | ZNF654 | Zinc finger protein 654 | Homo sapiens (Human) | PR |
Q14526 | HIC1 | Hypermethylated in cancer 1 protein | Homo sapiens (Human) | PR |
P17022 | ZNF18 | Zinc finger protein 18 | Homo sapiens (Human) | PR |
Q86XF7 | ZNF575 | Zinc finger protein 575 | Homo sapiens (Human) | PR |
Q06889 | EGR3 | Early growth response protein 3 | Homo sapiens (Human) | PR |
Q8NAM6 | ZSCAN4 | Zinc finger and SCAN domain-containing protein 4 | Homo sapiens (Human) | PR |
Q08ER8 | ZNF543 | Zinc finger protein 543 | Homo sapiens (Human) | PR |
P17029 | ZKSCAN1 | Zinc finger protein with KRAB and SCAN domains 1 | Homo sapiens (Human) | PR |
Q8N680 | ZBTB2 | Zinc finger and BTB domain-containing protein 2 | Homo sapiens (Human) | PR |
O95625 | ZBTB11 | Zinc finger and BTB domain-containing protein 11 | Homo sapiens (Human) | PR |
Q9NPC7 | MYNN | Myoneurin | Homo sapiens (Human) | PR |
Q96BV0 | ZNF775 | Zinc finger protein 775 | Homo sapiens (Human) | PR |
Q8NF99 | ZNF397 | Zinc finger protein 397 | Homo sapiens (Human) | PR |
Q63HK3 | ZKSCAN2 | Zinc finger protein with KRAB and SCAN domains 2 | Homo sapiens (Human) | PR |
Q5FWF6 | ZNF789 | Zinc finger protein 789 | Homo sapiens (Human) | PR |
Q15776 | ZKSCAN8 | Zinc finger protein with KRAB and SCAN domains 8 | Homo sapiens (Human) | PR |
Q53GI3 | ZNF394 | Zinc finger protein 394 | Homo sapiens (Human) | PR |
O95125 | ZNF202 | Zinc finger protein 202 | Homo sapiens (Human) | PR |
Q05516 | ZBTB16 | Zinc finger and BTB domain-containing protein 16 | Homo sapiens (Human) | PR |
Q9H116 | GZF1 | GDNF-inducible zinc finger protein 1 | Homo sapiens (Human) | PR |
Q8N0Y2 | ZNF444 | Zinc finger protein 444 | Homo sapiens (Human) | PR |
Q6P9G9 | ZNF449 | Zinc finger protein 449 | Homo sapiens (Human) | PR |
Q8IW36 | ZNF695 | Zinc finger protein 695 | Homo sapiens (Human) | PR |
Q5VTD9 | GFI1B | Zinc finger protein Gfi-1b | Homo sapiens (Human) | PR |
Q6PG37 | ZNF790 | Zinc finger protein 790 | Homo sapiens (Human) | PR |
Q9Y2D9 | ZNF652 | Zinc finger protein 652 | Homo sapiens (Human) | PR |
Q5TC79 | ZBTB37 | Zinc finger and BTB domain-containing protein 37 | Homo sapiens (Human) | PR |
Q9Y4E5 | ZNF451 | E3 SUMO-protein ligase ZNF451 | Homo sapiens (Human) | PR |
Q8ND82 | ZNF280C | Zinc finger protein 280C | Homo sapiens (Human) | PR |
Q49AA0 | ZFP69 | Zinc finger protein 69 homolog | Homo sapiens (Human) | PR |
O43298 | ZBTB43 | Zinc finger and BTB domain-containing protein 43 | Homo sapiens (Human) | PR |
Q9Y330 | ZBTB12 | Zinc finger and BTB domain-containing protein 12 | Homo sapiens (Human) | PR |
Q13105 | ZBTB17 | Zinc finger and BTB domain-containing protein 17 | Homo sapiens (Human) | PR |
P51508 | ZNF81 | Zinc finger protein 81 | Homo sapiens (Human) | PR |
Q5JNZ3 | ZNF311 | Zinc finger protein 311 | Homo sapiens (Human) | PR |
Q9BRR0 | ZKSCAN3 | Zinc finger protein with KRAB and SCAN domains 3 | Homo sapiens (Human) | PR |
Q969J2 | ZKSCAN4 | Zinc finger protein with KRAB and SCAN domains 4 | Homo sapiens (Human) | PR |
P49910 | ZNF165 | Zinc finger protein 165 | Homo sapiens (Human) | PR |
Q9Y4X4 | KLF12 | Krueppel-like factor 12 | Homo sapiens (Human) | PR |
P10074 | ZBTB48 | Telomere zinc finger-associated protein | Homo sapiens (Human) | PR |
P17010 | ZFX | Zinc finger X-chromosomal protein | Homo sapiens (Human) | PR |
Q9H5H4 | ZNF768 | Zinc finger protein 768 | Homo sapiens (Human) | PR |
Q6NSZ9 | ZSCAN25 | Zinc finger and SCAN domain-containing protein 25 | Homo sapiens (Human) | PR |
Q9Y2L8 | ZKSCAN5 | Zinc finger protein with KRAB and SCAN domains 5 | Homo sapiens (Human) | PR |
Q86UZ6 | ZBTB46 | Zinc finger and BTB domain-containing protein 46 | Homo sapiens (Human) | PR |
Q9NX65 | ZSCAN32 | Zinc finger and SCAN domain-containing protein 32 | Homo sapiens (Human) | PR |
O14771 | ZNF213 | Zinc finger protein 213 | Homo sapiens (Human) | PR |
Q8IWY8 | ZSCAN29 | Zinc finger and SCAN domain-containing protein 29 | Homo sapiens (Human) | PR |
Q8NCP5 | ZBTB44 | Zinc finger and BTB domain-containing protein 44 | Homo sapiens (Human) | PR |
P41182 | BCL6 | B-cell lymphoma 6 protein | Homo sapiens (Human) | PR |
Q9NQX0 | PRDM6 | Putative histone-lysine N-methyltransferase PRDM6 | Homo sapiens (Human) | PR |
Q9BU19 | ZNF692 | Zinc finger protein 692 | Homo sapiens (Human) | PR |
Q08AG5 | ZNF844 | Zinc finger protein 844 | Homo sapiens (Human) | PR |
Q6R2W3 | ZBED9 | SCAN domain-containing protein 3 | Homo sapiens (Human) | PR |
P98182 | ZNF200 | Zinc finger protein 200 | Homo sapiens (Human) | PR |
Q9UK11 | ZNF223 | Zinc finger protein 223 | Homo sapiens (Human) | PR |
O15156 | ZBTB7B | Zinc finger and BTB domain-containing protein 7B | Homo sapiens (Human) | PR |
Q6ZMS7 | ZNF783 | Zinc finger protein 783 | Homo sapiens (Human) | PR |
P59923 | ZNF445 | Zinc finger protein 445 | Homo sapiens (Human) | PR |
Q8N859 | ZNF713 | Zinc finger protein 713 | Homo sapiens (Human) | PR |
Q99612 | KLF6 | Krueppel-like factor 6 | Homo sapiens (Human) | PR |
Q8TD17 | ZNF398 | Zinc finger protein 398 | Homo sapiens (Human) | PR |
P52739 | ZNF131 | Zinc finger protein 131 | Homo sapiens (Human) | PR |
A6NGD5 | ZSCAN5C | Zinc finger and SCAN domain-containing protein 5C | Homo sapiens (Human) | PR |
Q05215 | EGR4 | Early growth response protein 4 | Homo sapiens (Human) | PR |
Q7Z398 | ZNF550 | Zinc finger protein 550 | Homo sapiens (Human) | PR |
Q9Y2K1 | ZBTB1 | Zinc finger and BTB domain-containing protein 1 | Homo sapiens (Human) | PR |
Q96N20 | ZNF75A | Zinc finger protein 75A | Homo sapiens (Human) | PR |
A6NJL1 | ZSCAN5B | Zinc finger and SCAN domain-containing protein 5B | Homo sapiens (Human) | PR |
A1YPR0 | ZBTB7C | Zinc finger and BTB domain-containing protein 7C | Homo sapiens (Human) | PR |
Q9NWS9 | ZNF446 | Zinc finger protein 446 | Homo sapiens (Human) | PR |
P24278 | ZBTB25 | Zinc finger and BTB domain-containing protein 25 | Homo sapiens (Human) | PR |
Q96N38 | ZNF714 | Zinc finger protein 714 | Homo sapiens (Human) | PR |
Q86YH2 | ZNF280B | Zinc finger protein 280B | Homo sapiens (Human) | PR |
Q9NTW7 | ZFP64 | Zinc finger protein 64 | Homo sapiens (Human) | PR |
Q9NQV6 | PRDM10 | PR domain zinc finger protein 10 | Homo sapiens (Human) | PR |
O08584 | Klf6 | Krueppel-like factor 6 | Mus musculus (Mouse) | PR |
Q61164 | Ctcf | Transcriptional repressor CTCF | Mus musculus (Mouse) | PR |
Q810A1 | Znf18 | Zinc finger protein 18 | Mus musculus (Mouse) | PR |
Q8BGS3 | Zkscan1 | Zinc finger protein with KRAB and SCAN domains 1 | Mus musculus (Mouse) | PR |
Q00899 | Yy1 | Transcriptional repressor protein YY1 | Mus musculus (Mouse) | PR |
P41183 | Bcl6 | B-cell lymphoma 6 protein homolog | Mus musculus (Mouse) | PR |
Q9DAI4 | Zbtb43 | Zinc finger and BTB domain-containing protein 43 | Mus musculus (Mouse) | PR |
O70237 | Gfi1b | Zinc finger protein Gfi-1b | Mus musculus (Mouse) | PR |
Q99KZ6 | Znf639 | Zinc finger protein 639 | Mus musculus (Mouse) | PR |
Q9Z1D9 | Znf394 | Zinc finger protein 394 | Mus musculus (Mouse) | PR |
Q9CXE0 | Prdm5 | PR domain zinc finger protein 5 | Mus musculus (Mouse) | PR |
P43300 | Egr3 | Early growth response protein 3 | Mus musculus (Mouse) | PR |
Q9DAU9 | Znf654 | Zinc finger protein 654 | Mus musculus (Mouse) | PR |
Q9R1Y5 | Hic1 | Hypermethylated in cancer 1 protein | Mus musculus (Mouse) | PR |
Q8R0T2 | Znf768 | Zinc finger protein 768 | Mus musculus (Mouse) | PR |
Q9WVG7 | Osr1 | Protein odd-skipped-related 1 | Mus musculus (Mouse) | PR |
Q8BI73 | Znf775 | Zinc finger protein 775 | Mus musculus (Mouse) | PR |
Q8VCZ7 | Zbtb7c | Zinc finger and BTB domain-containing protein 7C | Mus musculus (Mouse) | PR |
Q91VN1 | Znf24 | Zinc finger protein 24 | Mus musculus (Mouse) | PR |
Q9DB38 | Znf580 | Zinc finger protein 580 | Mus musculus (Mouse) | PR |
A7KBS4 | Zscan4d | Zinc finger and SCAN domain containing protein 4D | Mus musculus (Mouse) | PR |
Q91VW9 | Zkscan3 | Zinc finger protein with KRAB and SCAN domains 3 | Mus musculus (Mouse) | PR |
P10925 | Zfy1 | Zinc finger Y-chromosomal protein 1 | Mus musculus (Mouse) | PR |
P08046 | Egr1 | Early growth response protein 1 | Mus musculus (Mouse) | PR |
Q3TTC2 | Yy2 | Transcription factor YY2 | Mus musculus (Mouse) | PR |
Q3UTQ7 | Prdm10 | PR domain zinc finger protein 10 | Mus musculus (Mouse) | PR |
Q6P3Y5 | Znf280c | Zinc finger protein 280C | Mus musculus (Mouse) | PR |
Q9ERU3 | Znf22 | Zinc finger protein 22 | Mus musculus (Mouse) | PR |
Q9Z1D8 | Zkscan5 | Zinc finger protein with KRAB and SCAN domains 5 | Mus musculus (Mouse) | PR |
Q8BID6 | Zbtb46 | Zinc finger and BTB domain-containing protein 46 | Mus musculus (Mouse) | PR |
P17012 | Zfx | Zinc finger X-chromosomal protein | Mus musculus (Mouse) | PR |
Q9WUK6 | Zbtb18 | Zinc finger and BTB domain-containing protein 18 | Mus musculus (Mouse) | PR |
O35738 | Klf12 | Krueppel-like factor 12 | Mus musculus (Mouse) | PR |
B2RXC5 | Znf382 | Zinc finger protein 382 | Mus musculus (Mouse) | PR |
O08900 | Ikzf3 | Zinc finger protein Aiolos | Mus musculus (Mouse) | PR |
Q5DU09 | Znf652 | Zinc finger protein 652 | Mus musculus (Mouse) | PR |
Q5RJ54 | Zscan26 | Zinc finger and SCAN domain-containing protein 26 | Mus musculus (Mouse) | PR |
Q8BLM0 | Klf8 | Krueppel-like factor 8 | Mus musculus (Mouse) | PR |
Q99JB0 | Klf7 | Krueppel-like factor 7 | Mus musculus (Mouse) | PR |
Q8R0A2 | Zbtb44 | Zinc finger and BTB domain-containing protein 44 | Mus musculus (Mouse) | PR |
P20662 | Zfy2 | Zinc finger Y-chromosomal protein 2 | Mus musculus (Mouse) | PR |
Q80VJ6 | Zscan4c | Zinc finger and SCAN domain containing protein 4C | Mus musculus (Mouse) | PR |
Q3URS2 | Zscan4f | Zinc finger and SCAN domain containing protein 4F | Mus musculus (Mouse) | PR |
Q60980 | Klf3 | Krueppel-like factor 3 | Mus musculus (Mouse) | PR |
Q8K3J5 | Znf131 | Zinc finger protein 131 | Mus musculus (Mouse) | PR |
Q8VIG1 | Rest | RE1-silencing transcription factor | Mus musculus (Mouse) | PR |
Q9Z2K3 | Znf394 | Zinc finger protein 394 | Rattus norvegicus (Rat) | PR |
Q642B9 | Znf18 | Zinc finger protein 18 | Rattus norvegicus (Rat) | PR |
B0K011 | Osr1 | Protein odd-skipped-related 1 | Rattus norvegicus (Rat) | PR |
D3ZUU2 | Gzf1 | GDNF-inducible zinc finger protein 1 | Rattus norvegicus (Rat) | PR |
B1WBU4 | Zbtb8a | Zinc finger and BTB domain-containing protein 8A | Rattus norvegicus (Rat) | PR |
Q7TNK3 | Znf24 | Zinc finger protein 24 | Rattus norvegicus (Rat) | PR |
O35819 | Klf6 | Krueppel-like factor 6 | Rattus norvegicus (Rat) | PR |
Q9R1D1 | Ctcf | Transcriptional repressor CTCF | Rattus norvegicus (Rat) | PR |
P43301 | Egr3 | Early growth response protein 3 | Rattus norvegicus (Rat) | PR |
P08154 | Egr1 | Early growth response protein 1 | Rattus norvegicus (Rat) | PR |
A0JPL0 | Znf382 | Zinc finger protein 382 | Rattus norvegicus (Rat) | PR |
Q4KLI1 | Zkscan1 | Zinc finger protein with KRAB and SCAN domains 1 | Rattus norvegicus (Rat) | PR |
A1L1J6 | Znf652 | Zinc finger protein 652 | Rattus norvegicus (Rat) | PR |
Q9SHD0 | ZAT4 | Zinc finger protein ZAT4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q0P4X6 | zbtb44 | Zinc finger and BTB domain-containing protein 44 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
A4II20 | egr1 | Early growth response protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
Q6P882 | zbtb8a.2 | Zinc finger and BTB domain-containing protein 8A.2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
Q567C6 | znf367 | Zinc finger protein 367 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
A7Y7X5 | znf711 | Zinc finger protein 711 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MATQVMGQSS | GGGGLFTSSG | NIGMALPNDM | YDLHDLSKAE | LAAPQLIMLA | NVALTGEVNG |
70 | 80 | 90 | 100 | 110 | 120 |
SCCDYLVGEE | RQMAELMPVG | DNNFSDSEEG | EGLEESADIK | GEPHGLENME | LRSLELSVVE |
130 | 140 | 150 | 160 | 170 | 180 |
PQPVFEASGA | PDIYSSNKDL | PPETPGAEDK | GKSSKTKPFR | CKPCQYEAES | EEQFVHHIRV |
190 | 200 | 210 | 220 | 230 | 240 |
HSAKKFFVEE | SAEKQAKARE | SGSSTAEEGD | FSKGPIRCDR | CGYNTNRYDH | YTAHLKHHTR |
250 | 260 | 270 | 280 | 290 | 300 |
AGDNERVYKC | IICTYTTVSE | YHWRKHLRNH | FPRKVYTCGK | CNYFSDRKNN | YVQHVRTHTG |
310 | 320 | 330 | 340 | 350 | 360 |
ERPYKCELCP | YSSSQKTHLT | RHMRTHSGEK | PFKCDQCSYV | ASNQHEVTRH | ARQVHNGPKP |
370 | 380 | 390 | 400 | 410 | 420 |
LNCPHCDYKT | ADRSNFKKHV | ELHVNPRQFN | CPVCDYAASK | KCNLQYHFKS | KHPTCPNKTM |
430 | 440 | 450 | 460 | 470 | 480 |
DVSKVKLKKT | KKREADLPDN | ITNEKTEIEQ | TKIKGDVAGK | KNEKSVKAEK | RDVSKEKKPS |
490 | 500 | 510 | 520 | 530 | 540 |
NNVSVIQVTT | RTRKSVTEVK | EMDVHTGSNS | EKFSKTKKSK | RKLEVDSHSL | HGPVNDEESS |
550 | 560 | 570 | 580 | 590 | 600 |
TKKKKKVESK | SKNNSQEVPK | GDSKVEENKK | QNTCMKKSTK | KKTLKNKSSK | KSSKPPQKEP |
610 | 620 | 630 | 640 | 650 | 660 |
VEKGSAQMDP | PQMGPAPTEA | VQKGPVQVEP | PPPMEHAQME | GAQIRPAPDE | PVQMEVVQEG |
670 | 680 | 690 | 700 | 710 | 720 |
PAQKELLPPV | EPAQMVGAQI | VLAHMELPPP | METAQTEVAQ | MGPAPMEPAQ | MEVAQVESAP |
730 | 740 | 750 | 760 | 770 | 780 |
MQVVQKEPVQ | MELSPPMEVV | QKEPVQIELS | PPMEVVQKEP | VKIELSPPIE | VVQKEPVQME |
790 | 800 | 810 | 820 | 830 | 840 |
LSPPMGVVQK | EPAQREPPPP | REPPLHMEPI | SKKPPLRKDK | KEKSNMQSER | ARKEQVLIEV |
850 | 860 | 870 | 880 | 890 | 900 |
GLVPVKDSWL | LKESVSTEDL | SPPSPPLPKE | NLREEASGDQ | KLLNTGEGNK | EAPLQKVGAE |
910 | 920 | 930 | 940 | 950 | 960 |
EADESLPGLA | ANINESTHIS | SSGQNLNTPE | GETLNGKHQT | DSIVCEMKMD | TDQNTRENLT |
970 | 980 | 990 | 1000 | 1010 | 1020 |
GINSTVEEPV | SPMLPPSAVE | EREAVSKTAL | ASPPATMAAN | ESQEIDEDEG | IHSHEGSDLS |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
DNMSEGSDDS | GLHGARPVPQ | ESSRKNAKEA | LAVKAAKGDF | VCIFCDRSFR | KGKDYSKHLN |
1090 | |||||
RHLVNVYYLE | EAAQGQE |