P08151
Gene name |
GLI1 (GLI) |
Protein name |
Zinc finger protein GLI1 |
Names |
Glioma-associated oncogene, Oncogene GLI |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2735 |
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

943 variants for P08151
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA385461302 rs748321474 RCV000680279 |
113 | R>* | Polydactyly, postaxial, type A8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
VAR_081480 | 113 | R>del | PAPA8 [UniProt] | Yes | UniProt |
rs193921005 RCV000149082 CA174313 COSM1178809 |
177 | C>Y | Malignant tumor of prostate prostate haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
rs563340967 RCV000585767 CA6648621 |
274 | G>R | Bardet-Biedl syndrome Bardet-biedl syndrome (bbs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
RCV001261999 rs1871565914 |
329 | K>* | Polydactyly, postaxial, type A8 [ClinVar] | Yes |
ClinVar dbSNP |
CA6648801 rs753690500 RCV000770752 VAR_082590 |
506 | L>Q | PPD1; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
RCV000680278 rs1565601979 CA385470890 |
644 | Q>* | Polydactyly, postaxial, type A8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
VAR_081481 | 644 | Q>del | PAPA8 [UniProt] | Yes | UniProt |
rs1871871826 RCV001270223 |
743 | Y>H | Premature ovarian failure [ClinVar] | Yes |
ClinVar dbSNP |
RCV000680277 CA385473122 rs1309855392 |
780 | W>* | Polydactyly, postaxial, type A8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
VAR_081482 | 780 | W>del | PAPA8; decreased transcriptional activity; reduced expression of the GLI1 target PTCH1 observed in patient fibroblasts after chemical induction of the hedgehog pathway [UniProt] | Yes | UniProt |
RCV001334380 rs1871977265 |
1022 | G>missing | Polydactyly, postaxial, type A8 [ClinVar] | Yes |
ClinVar dbSNP |
TCGA novel | 2 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6648325 rs779451445 |
3 | N>T | No |
ClinGen ExAC gnomAD |
|
CA6648326 rs141757554 |
4 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1594742252 CA385459655 |
6 | T>P | No |
ClinGen Ensembl |
|
rs1311532229 CA385459702 |
9 | P>Q | No |
ClinGen TOPMed |
|
CA6648330 rs533354109 |
10 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs748024303 CA6648329 |
10 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1010940668 CA237783168 |
11 | S>N | No |
ClinGen TOPMed |
|
CA385459751 rs1313805644 |
13 | Y>C | No |
ClinGen gnomAD |
|
CA385459755 rs1377673984 |
14 | G>S | No |
ClinGen gnomAD |
|
CA6648331 rs773228040 |
14 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648333 rs766446724 |
15 | E>A | No |
ClinGen ExAC gnomAD |
|
CA237783188 rs890327478 |
15 | E>K | No |
ClinGen TOPMed |
|
CA6648334 rs552135928 |
16 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6648335 rs759777434 |
19 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648337 rs199861974 |
20 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs199861974 CA237783225 |
20 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs767782645 CA6648336 COSM942034 |
20 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA6648338 rs756402955 |
23 | P>A | No |
ClinGen ExAC gnomAD |
|
CA385459868 rs1429409127 |
23 | P>L | No |
ClinGen gnomAD |
|
rs1566558142 CA385459894 |
25 | Q>P | No |
ClinGen Ensembl |
|
CA6648340 rs764455953 |
26 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754294090 CA385459926 |
27 | A>D | No |
ClinGen ExAC gnomAD |
|
rs754294090 CA6648341 |
27 | A>V | No |
ClinGen ExAC gnomAD |
|
rs200183475 CA237783273 |
28 | P>S | No |
ClinGen gnomAD |
|
TCGA novel | 31 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6648342 rs757744788 |
31 | G>E | No |
ClinGen ExAC gnomAD |
|
rs779593964 CA6648343 |
32 | T>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 33 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs746560370 CA6648344 |
33 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA237783284 rs1035246842 |
33 | E>Q | No |
ClinGen TOPMed |
|
rs1440421197 CA385460055 |
34 | G>E | No |
ClinGen TOPMed |
|
rs1383562588 CA385460006 |
34 | G>R | No |
ClinGen gnomAD |
|
CA237783433 rs936956795 |
35 | L>M | No |
ClinGen Ensembl |
|
CA385460085 rs1165299385 |
37 | G>S | No |
ClinGen gnomAD |
|
CA385460104 rs1392573638 COSM1253287 |
38 | P>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA385460107 rs1418545492 |
39 | P>S | No |
ClinGen TOPMed |
|
TCGA novel | 41 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1594742645 CA385460139 |
42 | H>P | No |
ClinGen Ensembl |
|
rs1236664410 CA385460151 |
43 | Q>E | No |
ClinGen gnomAD |
|
rs780874033 CA6648364 |
45 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385460191 rs1328811148 |
46 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA385460212 rs1594742670 |
47 | M>T | No |
ClinGen Ensembl |
|
rs537495636 CA6648367 |
49 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs537495636 CA6648366 |
49 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs749091656 CA6648368 |
52 | S>G | No |
ClinGen ExAC gnomAD |
|
CA385460289 rs1566558325 |
53 | Y>N | No |
ClinGen Ensembl |
|
CA385460319 rs1566558352 |
55 | P>S | No |
ClinGen Ensembl |
|
rs770894336 CA6648369 |
56 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778646808 CA6648370 |
57 | R>S | No |
ClinGen ExAC gnomAD |
|
rs1272787826 CA385460349 |
57 | R>T | No |
ClinGen TOPMed |
|
rs1362862333 CA385460354 |
58 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA385460357 rs1362862333 |
58 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs375170232 CA6648371 |
59 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6648372 rs772090740 |
63 | T>S | No |
ClinGen ExAC gnomAD |
|
CA6648374 rs760866050 |
64 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1389442591 CA385460467 |
65 | G>C | No |
ClinGen gnomAD |
|
rs1389442591 CA385460463 |
65 | G>S | No |
ClinGen gnomAD |
|
CA6648397 rs770016487 |
67 | L>F | No |
ClinGen ExAC gnomAD |
|
CA6648400 rs773669041 |
69 | S>A | No |
ClinGen ExAC gnomAD |
|
rs763536538 CA6648401 |
69 | S>F | No |
ClinGen ExAC gnomAD |
|
rs773669041 CA385460605 |
69 | S>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 69 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs760192848 CA385460645 |
72 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760192848 CA6648405 |
72 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs199685332 CA6648403 |
72 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1395670869 CA385460671 |
74 | A>T | No |
ClinGen gnomAD |
|
CA385460687 rs1436341580 |
75 | V>I | No |
ClinGen gnomAD |
|
rs267603602 CA237784086 |
76 | K>N | No |
ClinGen Ensembl |
|
CA385460715 rs1310917004 |
78 | T>A | No |
ClinGen gnomAD |
|
CA6648406 rs763670345 |
80 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385460768 rs1289476480 |
81 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1289476480 CA385460765 |
81 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA6648407 rs753380800 |
81 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA6648409 rs144785382 |
84 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1364213000 CA385460795 |
84 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA6648408 rs144785382 |
84 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs750276505 CA6648410 |
85 | I>V | No |
ClinGen ExAC gnomAD |
|
CA6648411 rs758328227 |
86 | S>* | No |
ClinGen ExAC gnomAD |
|
CA6648412 rs779901915 |
87 | P>S | No |
ClinGen ExAC gnomAD |
|
CA385460842 rs1415914630 |
88 | L>P | No |
ClinGen TOPMed |
|
COSM3417025 rs746964085 CA6648413 |
89 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs781367133 CA6648415 |
90 | D>V | No |
ClinGen ExAC gnomAD |
|
CA6648416 rs748291467 |
91 | A>T | No |
ClinGen ExAC gnomAD |
|
rs770107383 CA6648417 |
92 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1253544916 CA385460960 |
94 | D>A | No |
ClinGen gnomAD |
|
rs143548857 CA6648418 |
97 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6648422 COSM333546 rs760141461 |
100 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA385461084 rs763470494 |
100 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648423 rs763470494 |
100 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1419694903 CA385461111 |
101 | T>I | No |
ClinGen TOPMed |
|
CA385461119 rs1320048458 |
102 | S>P | No |
ClinGen gnomAD |
|
CA237784177 rs1029168886 |
103 | P>S | No |
ClinGen TOPMed |
|
CA237784184 rs889338993 |
104 | S>G | No |
ClinGen Ensembl |
|
CA237784191 rs776244778 |
104 | S>N | No |
ClinGen ExAC gnomAD |
|
CA385461169 rs1566558833 |
104 | S>R | No |
ClinGen Ensembl |
|
CA6648424 rs776244778 |
104 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1018955380 CA237784202 |
105 | S>T | No |
ClinGen gnomAD |
|
rs139570630 CA6648425 RCV000973726 |
105 | S>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1344789388 CA385461192 |
106 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs1285900168 CA385461208 |
107 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA6648426 rs765007750 |
108 | A>T | No |
ClinGen ExAC gnomAD |
|
CA237784219 rs1011225180 |
108 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA6648428 rs758132104 |
109 | F>V | No |
ClinGen ExAC gnomAD |
|
CA6648429 rs766185741 |
110 | I>F | No |
ClinGen ExAC gnomAD |
|
CA385461269 rs1260473262 |
110 | I>S | No |
ClinGen TOPMed |
|
CA385461260 rs766185741 |
110 | I>V | No |
ClinGen ExAC gnomAD |
|
CA385461282 rs1202951566 |
111 | N>S | No |
ClinGen TOPMed |
|
CA6648430 rs751461298 COSM942036 |
112 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
COSM84174 CA6648434 rs756282060 |
113 | R>Q | Variant assessed as Somatic; 0.0001386 impact. pancreas endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA6648435 rs375940413 |
115 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs774885952 CA6648438 |
117 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1243003218 CA385461415 |
119 | G>D | No |
ClinGen Ensembl |
|
rs772683970 CA6648440 |
120 | S>F | No |
ClinGen ExAC gnomAD |
|
rs150011919 CA6648442 |
121 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs367757660 CA6648444 |
122 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs367757660 CA6648443 |
122 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA385461518 rs1317745506 |
126 | I>T | No |
ClinGen TOPMed |
|
CA385461528 rs751408248 |
127 | G>A | No |
ClinGen ExAC gnomAD |
|
CA6648448 rs751408248 |
127 | G>D | No |
ClinGen ExAC gnomAD |
|
rs766134206 COSM1299714 CA6648447 |
127 | G>S | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs1476006703 CA385461997 |
133 | L>V | No |
ClinGen gnomAD |
|
CA237784472 rs889329214 |
135 | F>L | No |
ClinGen gnomAD |
|
rs368173104 CA237784480 |
136 | P>A | No |
ClinGen ESP |
|
rs1298522895 CA385462041 |
136 | P>Q | No |
ClinGen gnomAD |
|
CA6648470 rs145283539 |
137 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA237784493 rs1019239130 |
138 | Q>H | No |
ClinGen TOPMed |
|
TCGA novel | 139 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs898082922 CA237784506 |
139 | M>K | No |
ClinGen Ensembl |
|
rs199696648 CA6648471 |
139 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6648472 rs764236015 |
140 | N>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 142 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA385462122 rs1393937734 |
142 | Q>K | No |
ClinGen gnomAD |
|
rs1281162936 CA690269874 |
142 | Q>R | No |
ClinGen TOPMed |
|
CA385462158 rs1233812896 |
144 | G>W | No |
ClinGen TOPMed |
|
CA6648473 rs754019701 |
146 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
TCGA novel | 146 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs371590132 CA6648476 |
147 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs758741662 CA6648477 |
148 | S>A | No |
ClinGen ExAC gnomAD |
|
rs780316234 COSM4152909 CA6648478 |
149 | F>S | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA6648479 rs554594367 |
150 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA237784550 rs773331571 |
151 | V>F | No |
ClinGen TOPMed gnomAD |
|
rs777248037 CA6648482 |
153 | P>L | No |
ClinGen ExAC gnomAD |
|
rs777248037 CA6648481 |
153 | P>R | No |
ClinGen ExAC gnomAD |
|
CA385462223 rs1255791245 |
154 | C>F | No |
ClinGen TOPMed gnomAD |
|
CA6648483 rs202066753 |
154 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA237784621 rs944167135 |
156 | P>R | No |
ClinGen TOPMed |
|
rs774001028 CA385462233 |
156 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774001028 CA6648484 |
156 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1039477087 CA237784643 |
157 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA237784627 rs867870031 |
157 | H>Y | No |
ClinGen Ensembl |
|
rs1022750237 CA237784645 |
160 | A>P | No |
ClinGen Ensembl |
|
COSM1363303 CA6648486 rs149185944 |
161 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA6648485 rs142957882 |
161 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1397293500 CA385462306 |
162 | G>S | No |
ClinGen gnomAD |
|
CA385462313 rs1464194780 |
162 | G>V | No |
ClinGen gnomAD |
|
rs1385280044 CA385462322 |
163 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1486969055 CA385462335 |
164 | M>T | No |
ClinGen TOPMed |
|
CA237784648 rs971226763 |
167 | H>Y | No |
ClinGen TOPMed |
|
CA6648489 rs542007910 |
168 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs542007910 CA6648488 RCV000904895 |
168 | P>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs776846382 CA6648490 |
171 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765428970 CA6648492 |
171 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA6648491 rs776846382 |
171 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385462444 rs1224544686 |
172 | G>A | No |
ClinGen TOPMed |
|
rs1224544686 CA385462440 |
172 | G>E | No |
ClinGen TOPMed |
|
CA6648493 rs750617572 |
172 | G>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 173 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA385462455 rs1232329180 |
173 | P>R | No |
ClinGen gnomAD |
|
CA6648495 rs766741235 |
175 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs956153433 CA237784660 |
176 | T>A | No |
ClinGen gnomAD |
|
rs956153433 CA385462494 |
176 | T>S | No |
ClinGen gnomAD |
|
CA385462651 rs1179532652 |
182 | E>V | No |
ClinGen gnomAD |
|
CA6648513 rs766573156 |
183 | L>P | No |
ClinGen ExAC gnomAD |
|
CA6648514 rs751780759 |
185 | M>I | No |
ClinGen ExAC gnomAD |
|
CA6648515 rs755282838 |
189 | K>T | No |
ClinGen ExAC gnomAD |
|
CA385462735 rs1281870068 |
190 | C>G | No |
ClinGen TOPMed |
|
rs767895421 CA6648516 |
190 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs151317566 CA6648519 |
191 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs756656703 CA6648518 |
191 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA237784929 CA385462775 rs2228225 |
192 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6648520 rs375756845 |
192 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs867823477 CA237784930 |
193 | E>K | No |
ClinGen Ensembl |
|
CA6648522 rs779506563 |
194 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1314946688 CA385462853 |
197 | G>A | No |
ClinGen gnomAD |
|
CA6648523 rs746681579 |
198 | D>G | No |
ClinGen ExAC gnomAD |
|
CA385462860 rs1320393599 |
198 | D>H | No |
ClinGen gnomAD |
|
rs746681579 CA385462867 |
198 | D>V | No |
ClinGen ExAC gnomAD |
|
CA237784944 rs953723851 |
199 | M>I | No |
ClinGen Ensembl |
|
CA6648524 rs768531179 |
200 | S>P | No |
ClinGen ExAC gnomAD |
|
rs776606983 CA6648525 |
202 | P>L | No |
ClinGen ExAC gnomAD |
|
CA6648526 rs748075302 |
204 | S>A | No |
ClinGen ExAC gnomAD |
|
rs868274692 CA237784967 |
206 | G>D | No |
ClinGen Ensembl |
|
rs769675836 CA385463012 |
208 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs769675836 CA6648527 |
208 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs1409773154 CA385463025 |
208 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
TCGA novel | 209 | D>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6648544 rs769632060 |
209 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
VAR_035557 | 210 | P>A | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
CA6648548 rs777509564 |
212 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1221339030 CA385463120 |
213 | G>R | No |
ClinGen gnomAD |
|
CA6648549 rs200793383 |
214 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs145720544 CA385463155 |
216 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
rs138672716 CA6648550 |
216 | D>V | No |
ClinGen ESP ExAC TOPMed |
|
CA237785060 rs145720544 |
216 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
CA237785065 rs1040509893 |
218 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA385463182 rs1215799189 |
218 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs759734150 CA6648552 |
219 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA237785103 rs929570412 |
220 | D>G | No |
ClinGen Ensembl |
|
CA385463205 rs1455558333 |
220 | D>Y | No |
ClinGen TOPMed |
|
rs1478880212 CA385463219 |
221 | L>F | No |
ClinGen gnomAD |
|
rs772340309 CA6648553 |
221 | L>H | No |
ClinGen ExAC gnomAD |
|
COSM3688367 CA6648554 rs369404558 |
222 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA6648555 rs760883025 |
223 | R>K | No |
ClinGen ExAC gnomAD |
|
CA237785145 rs754258666 |
225 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764532761 CA6648557 |
225 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1566559797 | 225 | E>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs762421780 CA6648559 |
226 | K>E | No |
ClinGen ExAC gnomAD |
|
rs200097138 CA6648562 COSM942038 |
227 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs200097138 CA6648561 |
227 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6648564 rs202128734 |
227 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6648563 rs202128734 |
227 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs755812887 CA6648565 |
229 | P>S | No |
ClinGen ExAC gnomAD |
|
CA6648566 rs777659251 |
231 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777659251 CA237785171 |
231 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770953450 CA6648568 |
232 | V>E | No |
ClinGen ExAC gnomAD |
|
CA6648567 rs749153176 |
232 | V>L | No |
ClinGen ExAC gnomAD |
|
CA385463401 rs1273736602 |
235 | T>N | No |
ClinGen gnomAD |
|
rs1295583467 CA385463404 |
236 | D>N | No |
ClinGen TOPMed |
|
CA385463424 rs1234477341 |
237 | C>Y | No |
ClinGen TOPMed |
|
CA6648570 rs746017407 |
238 | R>C | No |
ClinGen ExAC gnomAD |
|
rs548133983 CA6648571 |
238 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA385463496 rs1183121569 |
242 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA385463528 rs1471642360 |
244 | Q>R | No |
ClinGen gnomAD |
|
TCGA novel | 245 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6648573 rs747277465 |
246 | F>V | No |
ClinGen ExAC gnomAD |
|
rs1594744867 CA385463576 |
247 | D>A | No |
ClinGen Ensembl |
|
CA237785228 rs867676131 |
247 | D>E | No |
ClinGen gnomAD |
|
rs768871917 CA6648574 |
248 | S>F | No |
ClinGen ExAC TOPMed |
|
rs1321934189 CA385463604 |
249 | Q>H | No |
ClinGen gnomAD |
|
rs1349631593 CA385463617 |
250 | E>G | No |
ClinGen gnomAD |
|
TCGA novel | 251 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1227177051 CA385463638 |
253 | V>E | No |
ClinGen TOPMed gnomAD |
|
rs773802622 CA6648600 |
255 | H>D | No |
ClinGen ExAC gnomAD |
|
CA237785478 rs113210621 |
256 | I>V | No |
ClinGen TOPMed |
|
TCGA novel | 258 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs150321991 CA237785505 |
258 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA237785536 rs775119859 |
259 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648603 rs775119859 |
259 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs775119859 CA6648604 |
259 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385463714 rs7973381 |
262 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1594745250 COSM192339 CA385463718 |
263 | G>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs574196970 COSM138886 CA6648606 |
263 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
COSM1323137 CA6648608 rs201621277 |
265 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA6648607 rs200444628 |
265 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs200253557 CA385463755 |
268 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA385463756 rs758378363 |
269 | V>L | No |
ClinGen ExAC gnomAD |
|
CA6648610 rs758378363 |
269 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1332932674 CA385463773 |
271 | H>R | No |
ClinGen gnomAD |
|
CA385463771 rs1412253333 |
271 | H>Y | No |
ClinGen gnomAD |
|
CA6648616 rs547877619 |
272 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6648614 rs368789621 |
272 | W>* | No |
ClinGen ESP ExAC gnomAD |
|
rs547877619 CA6648615 CA6648617 |
272 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs368789621 CA6648613 |
272 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
rs368789621 CA385463780 |
272 | W>S | No |
ClinGen ESP ExAC gnomAD |
|
rs1486673896 CA385463785 |
273 | G>E | No |
ClinGen TOPMed |
|
rs770240474 CA385463781 |
273 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648618 rs770240474 |
273 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759448855 | 274 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA6648620 rs563340967 |
274 | G>C | Bardet-biedl syndrome (bbs) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
rs563340967 CA6648619 |
274 | G>S | Bardet-biedl syndrome (bbs) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
rs759448855 | 275 | C>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA6648622 rs774861127 |
275 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA237785636 rs569102560 |
278 | E>D | No |
ClinGen Ensembl |
|
rs768066916 CA6648624 |
278 | E>K | No |
ClinGen ExAC gnomAD |
|
rs776298132 CA6648625 |
278 | E>V | No |
ClinGen ExAC gnomAD |
|
rs948970008 CA237785643 |
279 | L>P | No |
ClinGen Ensembl |
|
TCGA novel | 280 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1465714577 CA385463859 |
285 | Q>H | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 288 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6648626 rs761485628 |
289 | V>M | No |
ClinGen ExAC gnomAD |
|
CA237785653 rs928625407 |
292 | M>K | No |
ClinGen Ensembl |
|
CA385463932 rs1449223777 |
296 | T>S | No |
ClinGen gnomAD |
|
CA6648629 rs374948623 |
298 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
CA385463943 rs374948623 |
298 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
rs1476843535 CA385463958 |
300 | P>S | No |
ClinGen gnomAD |
|
rs1476843535 CA385463959 |
300 | P>T | No |
ClinGen gnomAD |
|
rs765329581 CA237785658 |
301 | H>P | No |
ClinGen Ensembl |
|
rs766271134 CA237785665 |
301 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA237785657 rs1053141462 |
301 | H>Y | No |
ClinGen gnomAD |
|
rs755035040 CA6648632 |
304 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754128019 CA6648656 |
305 | F>L | No |
ClinGen ExAC gnomAD |
|
rs376773615 CA6648657 |
307 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385464814 rs376773615 |
307 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs779176901 CA6648658 |
308 | C>G | No |
ClinGen ExAC gnomAD |
|
CA6648660 rs767216717 |
309 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369128119 CA6648659 |
309 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 311 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6648662 rs144052713 |
311 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385464890 rs1168996924 |
312 | Y>H | No |
ClinGen gnomAD |
|
rs772799269 COSM3384536 CA6648664 |
314 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA6648665 rs373249560 |
314 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM468710 CA385464933 rs373249560 |
314 | R>L | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA6648667 rs774058977 |
316 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1594746365 CA385464987 |
317 | N>T | No |
ClinGen Ensembl |
|
CA6648669 rs564027387 COSM1208280 |
320 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
CA385465052 rs1594746378 |
321 | H>P | No |
ClinGen Ensembl |
|
COSM431580 rs764293116 CA6648672 |
323 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
TCGA novel | 325 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6648673 rs754075170 |
326 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385465180 rs1423191974 |
328 | E>Q | No |
ClinGen gnomAD |
|
CA237786477 rs1018269403 |
329 | K>M | No |
ClinGen Ensembl |
|
rs765613579 CA6648675 |
331 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs774006233 CA6648676 |
332 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1162872976 CA385465291 |
332 | M>R | No |
ClinGen TOPMed |
|
CA385465339 rs1443049195 |
334 | E>V | No |
ClinGen TOPMed |
|
CA385465352 rs1427628204 |
335 | H>Y | No |
ClinGen gnomAD |
|
rs913242901 CA237786513 |
336 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs1466556322 CA385465408 |
337 | G>V | No |
ClinGen gnomAD |
|
rs1452587369 CA385465439 |
339 | S>G | No |
ClinGen TOPMed gnomAD |
|
CA237786525 rs779647343 |
339 | S>T | No |
ClinGen Ensembl |
|
rs753096494 CA237786537 |
341 | A>P | No |
ClinGen TOPMed |
|
rs201283310 CA237786540 |
343 | S>I | No |
ClinGen 1000Genomes gnomAD |
|
CA385465533 rs201283310 |
343 | S>N | No |
ClinGen 1000Genomes gnomAD |
|
rs200802561 CA6648680 |
345 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs200802561 CA6648681 |
345 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6648682 rs748944886 |
345 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1357736300 CA385465617 |
347 | D>H | No |
ClinGen gnomAD |
|
rs1460787785 CA385465642 |
348 | R>* | No |
ClinGen TOPMed gnomAD |
|
CA385465650 rs745587766 |
348 | R>P | No |
ClinGen ExAC gnomAD |
|
CA6648685 rs745587766 |
348 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs772010511 CA6648686 |
349 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1288588785 CA385465726 |
351 | H>Q | No |
ClinGen TOPMed |
|
COSM459417 CA385465773 rs1447419974 |
354 | R>W | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA6648687 rs775520299 |
358 | N>H | No |
ClinGen ExAC gnomAD |
|
rs760726253 CA6648688 |
359 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648721 rs373770232 |
361 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs562388922 CA6648724 |
364 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1182931922 CA385466102 |
365 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs746732590 CA6648725 |
368 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648727 rs768582577 |
370 | T>N | No |
ClinGen ExAC gnomAD |
|
rs768582577 CA6648726 |
370 | T>S | No |
ClinGen ExAC gnomAD |
|
rs1415230750 CA385466184 |
371 | K>E | No |
ClinGen gnomAD |
|
rs142822754 COSM1677113 CA6648729 |
372 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs142822754 CA237787014 |
372 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA237787043 rs913592640 |
372 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA385466276 rs1377756221 |
375 | D>A | No |
ClinGen gnomAD |
|
rs1430036137 CA385466288 |
376 | P>T | No |
ClinGen gnomAD |
|
CA237787046 rs774005775 |
378 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs759838377 CA6648734 |
380 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1381253752 COSM275303 CA385466376 |
380 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA237787061 rs761649230 |
382 | H>D | No |
ClinGen Ensembl |
|
rs1206103248 CA385466457 |
386 | V>A | No |
ClinGen gnomAD |
|
rs1206103248 CA385466456 |
386 | V>G | No |
ClinGen gnomAD |
|
rs1289816548 CA385466450 |
386 | V>M | No |
ClinGen TOPMed |
|
rs764631331 CA6648738 |
391 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750013335 CA6648739 |
392 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385466558 rs1332819968 |
394 | T>I | No |
ClinGen TOPMed |
|
CA385466549 rs1238490848 |
394 | T>P | No |
ClinGen gnomAD |
|
TCGA novel | 394 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs370035260 CA6648740 |
395 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
CA6648743 rs754780184 |
396 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs374429707 CA6648741 |
396 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6648744 rs374433509 |
397 | H>N | No |
ClinGen ExAC gnomAD |
|
rs1594747075 CA385466585 |
397 | H>P | No |
ClinGen Ensembl |
|
rs374063272 CA6648745 |
398 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6648747 rs376293205 |
398 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs376293205 CA6648746 |
398 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771013899 CA6648749 |
399 | G>E | No |
ClinGen ExAC gnomAD |
|
CA6648748 rs749295894 |
399 | G>R | No |
ClinGen ExAC gnomAD |
|
CA6648750 rs774512369 |
402 | P>S | No |
ClinGen ExAC gnomAD |
|
CA237787150 rs772813225 |
403 | L>M | No |
ClinGen TOPMed gnomAD |
|
rs1365637290 CA385466649 |
403 | L>P | No |
ClinGen gnomAD |
|
rs772813225 CA237787145 |
403 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA385466657 rs1230414150 |
404 | P>A | No |
ClinGen gnomAD |
|
COSM3688368 rs114543757 CA6648751 RCV000972851 |
405 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs925036184 CA237787155 |
405 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA385466672 rs1195244430 |
406 | A>S | No |
ClinGen gnomAD |
|
rs76639319 CA237787156 |
409 | I>L | No |
ClinGen Ensembl |
|
CA6648752 rs772293856 |
411 | T>A | No |
ClinGen ExAC gnomAD |
|
rs775972834 CA6648753 |
414 | P>L | No |
ClinGen ExAC gnomAD |
|
CA385466797 rs1202305900 |
416 | R>M | No |
ClinGen gnomAD |
|
rs761075652 CA6648754 |
417 | E>V | No |
ClinGen ExAC gnomAD |
|
CA385466820 rs777289743 |
418 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648756 rs777289743 |
418 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648755 rs564218374 |
418 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs762501146 CA6648757 |
420 | G>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 420 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6648758 rs200169408 |
421 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1184579144 CA385466858 |
422 | P>T | No |
ClinGen TOPMed |
|
rs1272008775 CA385466868 |
423 | I>V | No |
ClinGen TOPMed |
|
CA385466880 rs1172618277 |
424 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA385466913 rs1346897982 |
428 | R>T | No |
ClinGen TOPMed |
|
rs878961758 CA237787184 |
431 | V>M | No |
ClinGen gnomAD |
|
rs751225573 CA6648759 |
436 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385467895 rs1347624463 |
440 | P>Q | No |
ClinGen gnomAD |
|
rs1403117676 CA385467904 |
441 | S>R | No |
ClinGen gnomAD |
|
rs1565600752 CA385467920 |
444 | A>D | No |
ClinGen Ensembl |
|
CA6648774 rs777236611 |
444 | A>T | No |
ClinGen ExAC gnomAD |
|
CA385467935 rs1241770121 |
446 | S>* | No |
ClinGen TOPMed gnomAD |
|
rs368194993 CA6648775 |
450 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs765965806 CA6648776 |
453 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1316321490 CA385467983 |
453 | S>P | No |
ClinGen TOPMed |
|
CA6648777 rs149950420 |
454 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1198007042 CA385467992 |
455 | A>T | No |
ClinGen gnomAD |
|
rs1437303769 CA385467995 |
455 | A>V | No |
ClinGen gnomAD |
|
CA385468001 rs1305707895 |
456 | G>E | No |
ClinGen gnomAD |
|
rs1594748345 CA385468005 |
457 | S>G | No |
ClinGen Ensembl |
|
CA6648781 rs760472253 |
458 | A>P | No |
ClinGen ExAC gnomAD |
|
rs763911800 CA6648782 |
459 | A>G | No |
ClinGen ExAC gnomAD |
|
rs1363221091 CA385468027 |
460 | N>S | No |
ClinGen TOPMed gnomAD |
|
rs924034005 CA237788204 |
461 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs200730656 CA237788213 |
463 | S>N | No |
ClinGen 1000Genomes |
|
CA385468060 rs1360086366 |
465 | V>A | No |
ClinGen TOPMed |
|
rs1164792355 CA385468086 |
467 | M>R | No |
ClinGen gnomAD |
|
rs1164792355 CA385468085 |
467 | M>T | No |
ClinGen gnomAD |
|
CA385468111 rs1367624794 |
469 | G>D | No |
ClinGen gnomAD |
|
rs1302817146 CA385468120 |
470 | N>Y | No |
ClinGen gnomAD |
|
CA237788220 rs374392091 |
473 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
CA6648785 rs757234675 |
475 | T>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 477 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA385468214 COSM1677114 rs1335695170 |
478 | L>F | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA237788243 rs890425801 |
478 | L>P | No |
ClinGen TOPMed |
|
rs1471801240 CA385468230 |
479 | S>C | No |
ClinGen TOPMed |
|
rs778951240 CA6648786 |
485 | P>L | No |
ClinGen ExAC gnomAD |
|
CA6648787 rs750584946 |
486 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs1221239451 CA385468356 |
487 | I>M | No |
ClinGen gnomAD |
|
rs1274977868 CA385468370 |
488 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA6648788 rs368186732 |
489 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs780272131 CA6648789 |
490 | T>A | No |
ClinGen ExAC gnomAD |
|
CA6648790 rs185679191 |
491 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6648791 rs769033058 |
491 | G>D | No |
ClinGen ExAC gnomAD |
|
rs185679191 CA385468399 |
491 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA385468437 rs1445951282 |
493 | S>C | No |
ClinGen TOPMed |
|
rs12578516 CA237788281 |
495 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA6648795 rs139792497 |
496 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA6648796 rs759027001 |
496 | R>H | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs533875222 CA6648797 |
497 | R>C | No |
ClinGen ExAC gnomAD |
|
CA6648798 rs775171324 |
497 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1396343650 CA385468497 |
498 | L>I | No |
ClinGen gnomAD |
|
rs1397157719 CA385468537 |
501 | L>V | No |
ClinGen gnomAD |
|
rs890152411 CA237788306 |
502 | R>G | No |
ClinGen Ensembl |
|
CA6648799 rs760289179 |
502 | R>K | No |
ClinGen ExAC gnomAD |
|
CA237788319 rs866686999 |
506 | L>I | No |
ClinGen Ensembl |
|
rs147931475 CA6648804 |
510 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6648805 rs147931475 |
510 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
RCV000960167 CA6648803 rs149817893 |
510 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs566564028 CA6648807 |
512 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs963099490 CA237788344 |
513 | G>R | No |
ClinGen TOPMed gnomAD |
|
VAR_035558 | 514 | T>I | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
CA385468800 rs781683841 |
515 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648809 rs781683841 |
515 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648808 COSM1476779 rs375428680 |
515 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1565600997 CA385468806 |
516 | G>C | No |
ClinGen Ensembl |
|
rs1168450436 CA385468878 |
520 | P>A | No |
ClinGen TOPMed |
|
rs1372547639 CA385468882 |
520 | P>L | No |
ClinGen gnomAD |
|
rs990717142 CA237788382 |
521 | S>N | No |
ClinGen TOPMed |
|
rs1565601019 CA385468948 |
523 | S>C | No |
ClinGen Ensembl |
|
rs756280054 | 525 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs774916232 CA6648815 |
526 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1440205364 CA385469112 |
526 | G>V | No |
ClinGen gnomAD |
|
rs1314898459 CA385469153 |
528 | T>I | No |
ClinGen gnomAD |
|
TCGA novel | 529 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA385469189 rs1487397766 |
530 | S>F | No |
ClinGen TOPMed |
|
CA6648829 rs756509884 |
531 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648830 rs147758271 |
531 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6648831 rs749783306 |
532 | R>C | No |
ClinGen ExAC gnomAD |
|
rs200306754 CA6648832 COSM3398928 |
532 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA6648833 rs779612265 |
533 | V>M | No |
ClinGen ExAC gnomAD |
|
rs746451282 CA6648834 |
534 | G>A | No |
ClinGen ExAC |
|
COSM144946 rs144673003 CA6648835 |
535 | P>S | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA6648836 rs529336310 |
537 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6648837 rs747836770 |
538 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 539 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6648839 rs544591554 |
541 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1426197874 CA385469387 |
541 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs143462399 CA6648840 |
542 | R>C | No |
ClinGen ESP ExAC TOPMed |
|
CA6648841 rs766159479 |
542 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385469402 rs766159479 |
542 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648842 rs766159479 |
542 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385469468 rs1344298200 |
545 | S>R | No |
ClinGen gnomAD |
|
CA237788757 rs372102723 |
546 | S>C | No |
ClinGen ESP gnomAD |
|
rs200128720 CA6648844 |
549 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6648843 rs200128720 |
549 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs200128720 CA6648845 |
549 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6648846 rs756456896 |
550 | S>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 552 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1424981970 CA385469596 |
553 | Y>C | No |
ClinGen TOPMed |
|
CA6648850 COSM3671145 rs201845227 |
557 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA6648851 rs746398371 |
557 | R>H | No |
ClinGen ExAC gnomAD |
|
rs371089900 CA6648852 |
558 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs972690369 COSM942042 CA237788813 |
558 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs972690369 CA385469703 |
558 | R>P | No |
ClinGen TOPMed gnomAD |
|
rs1029055257 CA237788816 |
559 | S>P | No |
ClinGen TOPMed |
|
rs780728258 CA6648853 |
560 | S>F | No |
ClinGen ExAC gnomAD |
|
CA385469800 rs1594749403 |
565 | F>S | No |
ClinGen Ensembl |
|
rs747785448 CA6648854 |
566 | P>A | No |
ClinGen ExAC gnomAD |
|
rs201050450 CA385469823 |
566 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201050450 CA385469826 |
566 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6648855 rs201050450 |
566 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs368138761 CA6648858 |
567 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 567 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs368138761 CA6648856 |
567 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs368138761 CA6648857 |
567 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA385469856 rs1325105370 |
569 | S>T | No |
ClinGen TOPMed |
|
rs1275055587 CA385469897 |
571 | P>T | No |
ClinGen TOPMed |
|
COSM1208282 CA385469927 rs1409981398 |
572 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA6648860 rs759589302 |
572 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs566991727 CA385469959 |
574 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs267603605 COSM549256 CA237788852 |
574 | G>R | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
rs566991727 CA6648861 |
574 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6648862 rs775773783 |
575 | A>T | No |
ClinGen ExAC gnomAD |
|
rs367578462 CA6648864 |
576 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385469981 rs1565601582 |
576 | S>P | No |
ClinGen Ensembl |
|
CA6648865 rs764155302 |
577 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385470010 rs764155302 |
577 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648866 rs754106947 |
579 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA237788881 rs527900026 |
580 | G>S | No |
ClinGen gnomAD |
|
CA6648867 rs200441300 |
582 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6648868 rs765668438 |
584 | A>G | No |
ClinGen ExAC |
|
CA385470153 rs1464108125 |
585 | Q>P | No |
ClinGen TOPMed |
|
CA237788886 rs750904883 |
587 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750904883 CA6648869 |
587 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199642258 CA6648872 |
590 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs199642258 CA6648871 |
590 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs758959112 CA6648870 |
590 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA6648873 rs755663159 |
593 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA237788905 rs541715256 |
594 | A>V | No |
ClinGen gnomAD |
|
CA6648874 rs777242040 |
596 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648877 rs376908129 |
598 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs376908129 CA6648876 |
598 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385470336 rs1183640785 |
598 | G>R | No |
ClinGen TOPMed |
|
CA385470344 rs376908129 |
598 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
RCV001175556 rs758888293 |
599 | G>missing | No |
ClinVar dbSNP |
|
CA385470352 rs1416740082 |
599 | G>D | No |
ClinGen gnomAD |
|
rs1196728531 CA385470346 |
599 | G>S | No |
ClinGen TOPMed |
|
CA6648878 rs147997893 |
600 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385470358 rs147997893 |
600 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1199397071 CA385470365 |
600 | G>V | No |
ClinGen TOPMed |
|
CA385470369 rs1337303625 |
601 | T>A | No |
ClinGen gnomAD |
|
CA6648880 rs201538749 |
602 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1262154436 CA385470429 |
606 | A>E | No |
ClinGen TOPMed |
|
rs1309131329 CA385470472 |
609 | L>P | No |
ClinGen TOPMed |
|
rs1042660638 CA237788953 |
610 | D>A | No |
ClinGen TOPMed gnomAD |
|
rs1042660638 CA237788954 |
610 | D>G | No |
ClinGen TOPMed gnomAD |
|
CA385470480 rs1042660638 |
610 | D>V | No |
ClinGen TOPMed gnomAD |
|
rs765569651 CA385470490 |
611 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648886 rs765569651 |
611 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648885 rs368078339 |
611 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
rs1202123173 CA385470546 |
616 | P>L | No |
ClinGen gnomAD |
|
TCGA novel | 616 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs750849875 CA6648887 |
617 | M>I | No |
ClinGen ExAC gnomAD |
|
CA237788955 rs915631630 |
617 | M>L | No |
ClinGen TOPMed |
|
CA385470548 rs915631630 |
617 | M>V | No |
ClinGen TOPMed |
|
rs766813817 CA6648889 |
618 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648888 rs763307946 |
618 | P>S | No |
ClinGen ExAC |
|
rs372578437 CA6648891 |
619 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6648890 rs368007733 |
619 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA385470584 rs1474754798 |
620 | W>* | No |
ClinGen gnomAD |
|
rs375530514 CA6648892 |
622 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1238988 CA385470626 rs1594749795 |
623 | R>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA6648893 rs753413155 |
623 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs370091854 CA6648896 |
624 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs756993955 CA6648895 |
624 | A>P | No |
ClinGen ExAC gnomAD |
|
rs756993955 CA6648894 |
624 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1320531045 CA385470654 |
625 | E>D | No |
ClinGen gnomAD |
|
CA6648898 rs768202810 |
625 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs772925983 CA237788980 |
626 | Y>H | No |
ClinGen Ensembl |
|
rs1011961312 CA237788986 |
628 | G>V | No |
ClinGen TOPMed |
|
rs200861277 CA6648901 |
629 | Y>C | No |
ClinGen ESP ExAC TOPMed |
|
rs747001298 CA6648899 |
629 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs140787723 CA6648903 COSM74756 |
632 | N>K | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs906720694 CA237788996 |
632 | N>S | No |
ClinGen Ensembl |
|
rs555698950 CA6648904 |
633 | A>V | No |
ClinGen 1000Genomes ExAC |
|
rs1359000505 CA385470763 |
634 | G>R | No |
ClinGen TOPMed |
|
rs1594749920 CA385470779 |
635 | V>G | No |
ClinGen Ensembl |
|
CA385470792 rs1263121069 |
636 | T>I | No |
ClinGen gnomAD |
|
rs538595523 COSM74757 CA6648908 |
637 | R>Q | ovary endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA6648907 rs200606293 |
637 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA385470838 rs1192194289 |
640 | S>T | No |
ClinGen Ensembl |
|
TCGA novel | 641 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6648910 rs763500947 |
641 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648911 rs753456662 |
642 | P>S | No |
ClinGen ExAC gnomAD |
|
rs756725183 CA6648912 |
648 | R>C | No |
ClinGen ExAC gnomAD |
|
COSM1736472 CA6648913 rs367789336 |
648 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1414375643 CA385470979 |
651 | P>Q | No |
ClinGen TOPMed |
|
CA385471046 rs1419295145 |
657 | F>V | No |
ClinGen gnomAD |
|
CA385471072 CA6648916 rs374770255 |
658 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385471074 rs1367515244 |
659 | S>R | No |
ClinGen gnomAD |
|
CA6648918 rs755006681 |
661 | G>S | No |
ClinGen ExAC gnomAD |
|
CA385471112 rs1336880663 |
662 | C>S | No |
ClinGen TOPMed gnomAD |
|
CA6648920 rs748196652 |
663 | V>A | No |
ClinGen ExAC gnomAD |
|
rs780992909 CA6648919 |
663 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1018123186 CA237789083 |
664 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA6648922 rs150127797 |
664 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6648925 rs572181120 |
666 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs572181120 CA385471161 |
666 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1420836393 CA385471173 |
667 | P>T | No |
ClinGen gnomAD |
|
rs775875244 CA6648928 |
668 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6648927 rs768002671 |
668 | T>P | No |
ClinGen ExAC gnomAD |
|
rs138680284 CA6648929 |
670 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1460485464 CA385471218 |
671 | G>R | No |
ClinGen gnomAD |
|
CA237789117 rs961821733 |
672 | G>A | No |
ClinGen TOPMed |
|
CA6648931 rs750072514 |
672 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766080250 CA6648933 |
673 | G>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 674 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA237789121 rs200775132 |
676 | F>C | No |
ClinGen 1000Genomes |
|
CA385471331 rs1594750151 |
679 | Y>S | No |
ClinGen Ensembl |
|
rs1166115603 CA385471337 |
680 | L>I | No |
ClinGen TOPMed gnomAD |
|
CA237789124 rs974867444 |
681 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1594750178 CA385471360 |
682 | T>P | No |
ClinGen Ensembl |
|
rs1376612340 CA385471417 |
686 | S>L | No |
ClinGen gnomAD |
|
rs555605009 CA6648939 |
687 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6648940 rs555605009 |
687 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA385471429 rs1356844630 |
688 | Q>* | No |
ClinGen gnomAD |
|
rs771211991 CA6648941 |
688 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA385471442 rs971887652 |
689 | P>H | No |
ClinGen TOPMed gnomAD |
|
rs971887652 CA237789146 |
689 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA385471452 rs1193988375 |
690 | P>H | No |
ClinGen gnomAD |
|
CA6648942 rs779008962 |
690 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 692 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1185213050 CA385471584 |
696 | A>V | No |
ClinGen gnomAD |
|
TCGA novel | 698 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA385471619 rs1164399469 |
698 | M>T | No |
ClinGen gnomAD |
|
CA237789158 rs11553626 |
701 | R>G | No |
ClinGen Ensembl |
|
CA6648946 rs372465556 |
701 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA237789189 rs920472026 |
704 | Q>* | No |
ClinGen Ensembl |
|
CA385471801 rs1255413507 |
706 | E>K | No |
ClinGen TOPMed |
|
CA6648949 rs762554021 |
707 | P>L | No |
ClinGen ExAC gnomAD |
|
rs765994366 CA6648950 |
709 | V>A | No |
ClinGen ExAC gnomAD |
|
CA385471863 rs1339134061 |
709 | V>F | No |
ClinGen gnomAD |
|
rs1339134061 CA385471861 |
709 | V>L | No |
ClinGen gnomAD |
|
rs141789719 CA6648951 |
710 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385471913 rs1295917661 |
712 | S>F | No |
ClinGen gnomAD |
|
CA237789228 rs915604014 |
713 | M>T | No |
ClinGen TOPMed gnomAD |
|
rs1450320226 CA385471967 |
715 | G>S | No |
ClinGen TOPMed |
|
rs949814444 CA385471987 |
716 | S>C | No |
ClinGen TOPMed |
|
rs949814444 CA237789230 |
716 | S>R | No |
ClinGen TOPMed |
|
CA6648953 rs767254882 |
720 | P>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 721 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1276506226 CA385472125 |
722 | M>I | No |
ClinGen TOPMed |
|
rs756100571 CA6648955 |
724 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385472239 rs1241006818 |
727 | T>I | No |
ClinGen gnomAD |
|
CA385472259 rs1368023221 |
728 | D>E | No |
ClinGen TOPMed |
|
rs1434036639 CA385472271 |
729 | T>N | No |
ClinGen TOPMed |
|
CA385472358 rs1402320978 |
734 | G>E | No |
ClinGen TOPMed |
|
rs1331986744 CA385472366 |
735 | P>S | No |
ClinGen TOPMed |
|
CA385472401 rs1181484660 |
736 | E>D | No |
ClinGen gnomAD |
|
rs1430318516 CA385472462 |
739 | A>G | No |
ClinGen gnomAD |
|
rs757297667 CA6648958 |
742 | P>H | No |
ClinGen ExAC gnomAD |
|
CA6648957 rs753849741 |
742 | P>S | No |
ClinGen ExAC gnomAD |
|
rs753849741 CA385472516 |
742 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1397557620 CA385472565 |
745 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs138157845 COSM3384538 CA6648960 |
745 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs1465909682 CA385472596 |
746 | R>K | No |
ClinGen TOPMed gnomAD |
|
rs1465909682 CA385472589 |
746 | R>T | No |
ClinGen TOPMed gnomAD |
|
rs1224563422 CA385472616 |
747 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA237789249 rs924399161 |
749 | G>D | No |
ClinGen Ensembl |
|
CA6648963 rs747509020 |
752 | P>A | No |
ClinGen ExAC gnomAD |
|
rs868283139 CA237789261 |
752 | P>L | No |
ClinGen Ensembl |
|
CA6648964 rs769216016 |
753 | L>F | No |
ClinGen ExAC gnomAD |
|
CA6648965 rs777287963 |
753 | L>P | No |
ClinGen ExAC gnomAD |
|
rs377236422 CA6648966 |
754 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6648967 rs370486201 |
755 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1565602524 CA385472743 |
758 | P>T | No |
ClinGen Ensembl |
|
TCGA novel | 759 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs759160451 CA6648969 |
762 | G>D | No |
ClinGen ExAC gnomAD |
|
rs759160451 CA6648970 |
762 | G>V | No |
ClinGen ExAC gnomAD |
|
CA385472898 rs1191551029 |
765 | P>L | No |
ClinGen gnomAD |
|
CA237789296 rs201271317 |
766 | C>R | No |
ClinGen 1000Genomes TOPMed |
|
rs752553799 CA6648971 |
767 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1011202054 CA237789299 |
769 | Q>E | No |
ClinGen Ensembl |
|
CA6648973 rs763963114 |
771 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385472996 rs1160315310 |
772 | Y>N | No |
ClinGen gnomAD |
|
CA6648976 rs200374961 |
775 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA385473071 rs1365646325 |
777 | Q>K | No |
ClinGen gnomAD |
|
rs750640199 CA6648977 |
777 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA385473113 rs1187351940 |
779 | T>I | No |
ClinGen gnomAD |
|
CA6648978 rs758609027 |
781 | G>S | No |
ClinGen ExAC gnomAD |
|
CA6648979 rs780426081 |
781 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA237789340 rs778898048 |
785 | S>F | No |
ClinGen gnomAD |
|
CA385473183 rs1308922331 |
785 | S>P | No |
ClinGen gnomAD |
|
CA385473201 rs1594750714 |
786 | H>P | No |
ClinGen Ensembl |
|
CA237789341 rs890755485 |
786 | H>Q | No |
ClinGen TOPMed |
|
rs755412722 CA6648981 |
789 | L>R | No |
ClinGen ExAC gnomAD |
|
CA6648982 rs781748757 |
794 | K>T | No |
ClinGen ExAC gnomAD |
|
rs1224828144 CA385473315 |
795 | A>P | No |
ClinGen TOPMed gnomAD |
|
rs1352740229 CA385473335 |
796 | L>P | No |
ClinGen Ensembl |
|
rs748704866 CA6648983 |
797 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385473366 rs1478005717 |
799 | T>S | No |
ClinGen gnomAD |
|
rs74473582 CA237789351 |
800 | Y>H | No |
ClinGen gnomAD |
|
CA385473393 rs1358164612 |
801 | S>N | No |
ClinGen TOPMed |
|
CA385473442 rs1264071704 |
804 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1050431269 CA237789353 |
805 | R>* | No |
ClinGen gnomAD |
|
rs376640247 CA6648984 |
805 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 807 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6648985 rs773789139 |
808 | H>D | No |
ClinGen ExAC gnomAD |
|
rs773789139 CA385473494 |
808 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA6648986 rs745528986 |
810 | G>V | No |
ClinGen ExAC gnomAD |
|
rs1179799404 CA385473554 |
812 | V>A | No |
ClinGen TOPMed |
|
CA6648987 rs771559868 |
812 | V>M | No |
ClinGen ExAC gnomAD |
|
rs889144124 CA237789361 |
813 | Q>P | No |
ClinGen TOPMed gnomAD |
|
rs775139874 CA6648988 |
816 | P>L | No |
ClinGen ExAC gnomAD |
|
VAR_035559 | 817 | E>Q | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
rs112209004 CA237789373 |
819 | G>E | No |
ClinGen TOPMed gnomAD |
|
CA6648989 rs760414385 |
819 | G>R | No |
ClinGen ExAC gnomAD |
|
rs112209004 CA385473634 |
819 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs1299872008 CA385473638 |
820 | C>Y | No |
ClinGen gnomAD |
|
rs763909577 CA6648990 |
821 | P>T | No |
ClinGen ExAC gnomAD |
|
rs149553839 CA6648992 |
823 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA237789385 rs993256018 |
824 | S>C | No |
ClinGen Ensembl |
|
CA6648993 rs765349183 |
827 | T>I | No |
ClinGen ExAC gnomAD |
|
CA6648995 rs148731765 |
831 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6648996 rs766657731 |
832 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs751857353 CA6648997 |
834 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385474584 rs1351358957 |
836 | H>D | No |
ClinGen TOPMed |
|
rs1594750946 CA385474587 |
836 | H>P | No |
ClinGen Ensembl |
|
rs1022618991 CA237791211 |
836 | H>Q | No |
ClinGen TOPMed gnomAD |
|
CA385474600 rs1412421207 |
837 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs758320112 CA237791220 |
838 | S>T | No |
ClinGen Ensembl |
|
rs371534575 CA6648998 |
839 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
CA385474638 rs1396082920 |
840 | G>R | No |
ClinGen TOPMed |
|
CA6649000 rs748674893 |
841 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1398037874 CA385474655 |
841 | P>S | No |
ClinGen gnomAD |
|
rs1398037874 CA385474651 |
841 | P>T | No |
ClinGen gnomAD |
|
CA385474663 rs61734542 |
842 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs778346951 CA6649002 |
842 | P>L | No |
ClinGen ExAC gnomAD |
|
CA6649001 rs61734542 |
842 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA385474673 rs1454760110 |
843 | H>Y | No |
ClinGen gnomAD |
|
rs745312143 CA6649003 |
844 | P>S | No |
ClinGen ExAC gnomAD |
|
CA385474720 rs1363551405 |
846 | P>L | No |
ClinGen gnomAD |
|
rs771594350 CA6649004 |
846 | P>S | No |
ClinGen ExAC gnomAD |
|
CA385474739 rs1275653248 |
848 | F>Y | No |
ClinGen gnomAD |
|
CA385474756 rs1198368567 |
849 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs775084642 CA6649005 |
849 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746704993 CA6649006 |
850 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6649008 rs768421030 COSM265261 |
851 | Y>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA385474785 rs1594751051 |
851 | Y>S | No |
ClinGen Ensembl |
|
rs1236536860 CA385474795 |
852 | P>A | No |
ClinGen gnomAD |
|
CA385474803 rs1475421218 |
852 | P>L | No |
ClinGen gnomAD |
|
CA237791303 rs923953698 |
853 | Q>E | No |
ClinGen TOPMed |
|
rs1178054958 CA385474821 |
854 | P>A | No |
ClinGen TOPMed |
|
rs1178054958 CA385474819 |
854 | P>T | No |
ClinGen TOPMed |
|
TCGA novel | 860 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs762897107 CA6649012 |
862 | S>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 863 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA385474958 rs1412611763 |
864 | P>L | No |
ClinGen gnomAD |
|
CA385474951 rs1408010708 |
864 | P>S | No |
ClinGen gnomAD |
|
CA385474968 rs1372410554 |
865 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1594751175 CA385474974 |
866 | T>P | No |
ClinGen Ensembl |
|
TCGA novel | 867 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA385475005 rs1215558059 |
868 | P>S | No |
ClinGen TOPMed |
|
rs375975477 CA6649014 |
869 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs759894568 CA6649015 |
869 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375975477 CA385475016 |
869 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6649016 rs564746380 |
870 | P>A | No |
ClinGen ExAC gnomAD |
|
rs1565603031 | 870 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA6649017 rs564746380 |
870 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1199105605 CA385475084 |
875 | S>A | No |
ClinGen gnomAD |
|
CA385475092 rs1277411648 |
876 | E>G | No |
ClinGen gnomAD |
|
rs1309887873 CA385475101 |
877 | P>L | No |
ClinGen TOPMed |
|
rs1219939562 CA385475113 |
879 | P>L | No |
ClinGen TOPMed |
|
CA6649019 rs778095108 |
881 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1565603075 CA385475136 |
883 | F>L | No |
ClinGen Ensembl |
|
VAR_015114 | 884 | D>A | No | UniProt | |
CA6649021 rs142356674 |
884 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs754400912 CA6649020 |
884 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385475154 rs1399761461 |
885 | S>F | No |
ClinGen TOPMed |
|
CA6649023 rs746655729 |
888 | H>D | No |
ClinGen ExAC gnomAD |
|
CA6649024 rs768365951 |
891 | G>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 891 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6649025 rs780905505 |
893 | L>F | No |
ClinGen ExAC gnomAD |
|
CA6649026 rs747845466 |
893 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385475199 rs780905505 |
893 | L>V | No |
ClinGen ExAC gnomAD |
|
CA385475215 rs1349827041 |
895 | A>V | No |
ClinGen TOPMed |
|
rs777734120 CA6649028 |
896 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763029899 CA6649029 |
897 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6649030 rs147494642 |
898 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs147494642 CA385475229 |
898 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385475234 rs1231469327 |
899 | C>S | No |
ClinGen gnomAD |
|
rs201832885 CA6649033 |
901 | Y>* | No |
ClinGen ExAC gnomAD |
|
CA6649031 rs774638929 |
901 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385475252 rs1274597002 |
901 | Y>D | No |
ClinGen gnomAD |
|
CA385475258 rs1283519778 |
902 | V>I | No |
ClinGen gnomAD |
|
TCGA novel | 903 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA6649035 COSM3812662 rs760909851 |
905 | Q>E | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs764559524 CA6649036 |
906 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA6649037 rs754279016 |
907 | E>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 907 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs754279016 CA385475294 |
907 | E>V | No |
ClinGen ExAC gnomAD |
|
CA237791445 rs371696253 |
908 | L>P | No |
ClinGen Ensembl |
|
CA385475321 rs1364142518 |
911 | E>D | No |
ClinGen gnomAD |
|
CA385475324 rs1253674081 |
912 | G>R | No |
ClinGen gnomAD |
|
CA385475331 rs1269271138 |
913 | G>E | No |
ClinGen TOPMed |
|
rs757823205 CA6649038 |
913 | G>R | No |
ClinGen ExAC |
|
rs779539699 CA6649039 |
914 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201302136 CA6649040 |
918 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1488078943 CA385475362 |
918 | A>S | No |
ClinGen TOPMed |
|
rs201302136 CA237791450 |
918 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1393016876 CA385475369 |
919 | P>L | No |
ClinGen gnomAD |
|
CA6649041 rs754500775 |
919 | P>S | No |
ClinGen ExAC |
|
TCGA novel | 920 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs368469814 CA6649044 |
920 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6649045 rs777679896 |
921 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs749232881 CA6649046 |
922 | E>A | No |
ClinGen ExAC gnomAD |
|
CA385475400 rs1565603289 |
924 | S>C | No |
ClinGen Ensembl |
|
CA385475421 rs1303794084 |
927 | S>T | No |
ClinGen TOPMed |
|
CA385475434 rs1306560005 |
929 | K>* | No |
ClinGen gnomAD |
|
TCGA novel | 930 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1051088256 CA237791491 |
930 | F>Y | No |
ClinGen TOPMed |
|
rs1246021821 CA385475452 |
932 | G>R | No |
ClinGen gnomAD |
|
rs2228224 CA6649048 VAR_015115 |
933 | G>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
TCGA novel | 933 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA385475462 rs2228224 |
933 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1353712383 CA385475486 |
937 | S>N | No |
ClinGen gnomAD |
|
CA385475493 rs1209154299 |
938 | P>S | No |
ClinGen gnomAD |
|
rs536075646 CA6649050 |
940 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6649051 rs145582008 |
940 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
rs536075646 CA6649049 |
940 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1594751574 CA385475510 |
941 | A>T | No |
ClinGen Ensembl |
|
CA6649052 rs775544248 |
943 | A>S | No |
ClinGen ExAC gnomAD |
|
CA6649053 rs147740622 |
943 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
CA385475531 rs1565603366 |
944 | P>L | No |
ClinGen Ensembl |
|
CA385475532 rs1439280977 |
945 | V>M | No |
ClinGen gnomAD |
|
TCGA novel | 947 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs554710046 CA6649055 |
948 | Y>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1370254161 CA385475559 |
949 | G>R | No |
ClinGen gnomAD |
|
CA385475564 rs1456515400 |
949 | G>V | No |
ClinGen gnomAD |
|
CA385475569 rs1594751640 |
950 | P>R | No |
ClinGen Ensembl |
|
CA6649056 rs770718402 |
951 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385475574 rs770718402 |
951 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1594751650 CA385475584 |
953 | G>R | No |
ClinGen Ensembl |
|
rs765678067 CA6649057 |
961 | S>L | No |
ClinGen ExAC gnomAD |
|
CA385475646 rs1449397447 |
962 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA237791564 rs866379238 |
963 | S>P | No |
ClinGen Ensembl |
|
rs750955978 CA6649058 |
967 | P>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 968 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA385475696 rs1314505880 |
970 | C>R | No |
ClinGen gnomAD |
|
CA385475713 rs1451174384 |
972 | E>G | No |
ClinGen gnomAD |
|
CA237791615 rs867901056 |
972 | E>K | No |
ClinGen Ensembl |
|
TCGA novel | 973 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA385475745 rs1243442634 |
977 | G>R | No |
ClinGen gnomAD |
|
TCGA novel | 978 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA385475751 rs1251765243 |
978 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1319949591 CA385475777 |
981 | A>V | No |
ClinGen gnomAD |
|
CA6649061 rs752275003 |
982 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385475783 rs1257165110 |
983 | H>N | No |
ClinGen gnomAD |
|
CA385475786 rs1461647143 |
983 | H>P | No |
ClinGen gnomAD |
|
rs1461647143 CA385475787 |
983 | H>R | No |
ClinGen gnomAD |
|
rs1394608554 CA385475800 |
985 | A>S | No |
ClinGen gnomAD |
|
TCGA novel | 985 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA385475828 rs1184432538 |
990 | R>* | No |
ClinGen gnomAD |
|
rs370413110 CA6649062 |
990 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
CA385475847 rs1442415390 |
993 | P>L | No |
ClinGen gnomAD |
|
rs777293425 CA6649063 |
994 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757139167 CA385475857 |
995 | L>* | No |
ClinGen ExAC gnomAD |
|
rs757139167 CA6649065 |
995 | L>S | No |
ClinGen ExAC gnomAD |
|
rs1467617601 CA385475864 |
996 | P>R | No |
ClinGen gnomAD |
|
rs778954777 CA6649066 |
999 | Y>* | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 999 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA385475893 rs1470547300 |
1001 | P>T | No |
ClinGen gnomAD |
|
rs1301885056 CA385475921 |
1005 | G>* | No |
ClinGen gnomAD |
|
rs772024116 CA6649068 |
1005 | G>V | No |
ClinGen ExAC gnomAD |
|
CA385475926 rs1295636010 |
1006 | G>D | No |
ClinGen gnomAD |
|
rs775698948 CA6649069 |
1006 | G>S | No |
ClinGen ExAC gnomAD |
|
CA237791686 rs61739569 |
1011 | C>R | No |
ClinGen Ensembl |
|
RCV000953667 CA6649070 VAR_052723 rs2229300 |
1012 | G>V | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1216707027 CA385475979 |
1014 | P>S | No |
ClinGen gnomAD |
|
rs1224740711 CA385476009 |
1018 | R>S | No |
ClinGen TOPMed gnomAD |
|
CA6649072 rs776855654 |
1019 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1257932005 CA385476023 |
1021 | G>E | No |
ClinGen gnomAD |
|
rs1482417398 CA385476031 |
1022 | G>V | No |
ClinGen gnomAD |
|
TCGA novel | 1022 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs762119826 CA6649073 |
1026 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA385476053 rs1594752030 |
1026 | Y>S | No |
ClinGen Ensembl |
|
CA6649074 rs765626709 |
1027 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6649075 rs773683435 |
1028 | P>L | No |
ClinGen ExAC gnomAD |
|
CA6649076 rs773683435 |
1028 | P>R | No |
ClinGen ExAC gnomAD |
|
CA237791746 rs1027428919 |
1030 | E>K | No |
ClinGen gnomAD |
|
CA237791754 rs887643010 |
1031 | G>A | No |
ClinGen Ensembl |
|
rs1480937061 CA385476097 |
1033 | V>A | No |
ClinGen gnomAD |
|
CA385476099 rs1357823068 |
1034 | C>S | No |
ClinGen gnomAD |
|
CA6649079 rs755592734 |
1034 | C>Y | No |
ClinGen ExAC gnomAD |
|
CA6649080 rs763752118 |
1036 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6649084 rs778903349 |
1044 | N>D | No |
ClinGen ExAC gnomAD |
|
CA6649085 rs745789152 |
1044 | N>K | No |
ClinGen ExAC gnomAD |
|
CA6649086 rs758432160 |
1046 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA6649087 rs779862855 |
1048 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385476378 rs1263043549 |
1054 | D>V | No |
ClinGen gnomAD |
|
CA237791816 rs578089149 |
1057 | Q>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA6649092 rs748413929 |
1062 | P>S | No |
ClinGen ExAC gnomAD |
|
CA6649093 rs770128594 |
1064 | S>C | No |
ClinGen ExAC gnomAD |
|
rs770128594 CA6649094 |
1064 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA385476529 rs1237502199 |
1064 | S>P | No |
ClinGen TOPMed |
|
rs371558176 CA6649095 |
1066 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
rs1565604047 CA385476552 |
1067 | Q>* | No |
ClinGen Ensembl |
|
CA6649098 rs144893788 |
1068 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6649097 rs144893788 |
1068 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6649096 rs149870317 RCV000932082 |
1068 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1256380503 CA385476575 |
1069 | G>D | No |
ClinGen TOPMed |
|
rs761617989 CA6649101 |
1070 | S>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1070 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA237791870 rs916865788 |
1070 | S>T | No |
ClinGen TOPMed |
|
CA6649102 rs765120932 |
1072 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1278558735 CA385476617 |
1073 | H>Y | No |
ClinGen TOPMed |
|
rs149048217 CA6649103 |
1074 | T>N | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
rs1594752465 CA385476629 |
1074 | T>P | No |
ClinGen Ensembl |
|
CA6649104 rs149048217 |
1074 | T>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
rs751486798 CA385476663 |
1076 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6649106 rs751486798 |
1076 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1076 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs144663837 CA6649107 |
1077 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781302385 CA6649108 |
1079 | G>E | No |
ClinGen ExAC gnomAD |
|
CA385476710 rs748362709 |
1081 | P>L | No |
ClinGen ExAC gnomAD |
|
CA6649109 rs748362709 |
1081 | P>R | No |
ClinGen ExAC gnomAD |
|
CA385476720 rs1239576042 |
1082 | N>S | No |
ClinGen gnomAD |
|
CA385476718 rs1239576042 |
1082 | N>T | No |
ClinGen gnomAD |
|
CA385476743 rs1342384762 |
1083 | M>I | No |
ClinGen TOPMed |
|
CA385476806 rs1437404075 |
1088 | M>T | No |
ClinGen gnomAD |
|
CA6649110 rs769935841 |
1089 | S>T | No |
ClinGen ExAC gnomAD |
|
CA6649112 rs749615188 |
1090 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6649113 rs771230727 |
1091 | L>F | No |
ClinGen ExAC gnomAD |
|
CA237791940 COSM24658 rs267603606 |
1094 | S>F | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
rs561194556 CA6649114 |
1096 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6649116 rs768270155 |
1097 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1368596205 CA385476938 |
1098 | E>G | No |
ClinGen TOPMed |
|
VAR_015116 rs2228226 CA6649119 |
1100 | E>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA385477033 rs1488849799 |
1105 | S>G | No |
ClinGen TOPMed |
|
rs914337244 CA237791987 |
1105 | S>N | No |
ClinGen TOPMed |
|
CA6649121 rs764926851 |
1106 | A>D | No |
ClinGen ExAC |
|
rs1409856982 CA385477046 |
1106 | A>T | No |
ClinGen TOPMed gnomAD |
2 associated diseases with P08151
[MIM: 618123]: Polydactyly, postaxial, A8 (PAPA8)
A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA8 is an autosomal recessive condition characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. {ECO:0000269|PubMed:28973407}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 174400]: Polydactyly, preaxial 1 (PPD1)
A form of polydactyly, a condition defined by the occurrence of supernumerary digits in the upper and/or lower extremities. Preaxial or radial polydactyly refers to the presence of extra digits on the radial side of the hand. PPD1 is an autosomal recessive form characterized by duplication of the distal phalanx of the thumb. {ECO:0000269|PubMed:30620395}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA8 is an autosomal recessive condition characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. {ECO:0000269|PubMed:28973407}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of polydactyly, a condition defined by the occurrence of supernumerary digits in the upper and/or lower extremities. Preaxial or radial polydactyly refers to the presence of extra digits on the radial side of the hand. PPD1 is an autosomal recessive form characterized by duplication of the distal phalanx of the thumb. {ECO:0000269|PubMed:30620395}. Note=The disease may be caused by variants affecting the gene represented in this entry.
5 regional properties for P08151
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Zinc finger C2H2-type | 235 - 267 | IPR013087-1 |
domain | Zinc finger C2H2-type | 268 - 300 | IPR013087-2 |
domain | Zinc finger C2H2-type | 301 - 330 | IPR013087-3 |
domain | Zinc finger C2H2-type | 331 - 361 | IPR013087-4 |
domain | Zinc finger C2H2-type | 362 - 392 | IPR013087-5 |
Functions
8 GO annotations of cellular component
Name | Definition |
---|---|
axoneme | The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
ciliary base | Area of the cilium (also called flagellum) where the basal body and the axoneme are anchored to the plasma membrane. The ciliary base encompasses the distal part of the basal body, transition fibers and transition zone and is structurally and functionally very distinct from the rest of the cilium. In this area proteins are sorted and filtered before entering the cilium, and many ciliary proteins localize specifically to this area. |
ciliary tip | Part of the cilium where the axoneme ends. The ciliary tip has been implicated in ciliary assembly and disassembly, as well as signal transduction. |
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. |
GLI-SUFU complex | A protein repressing GLI's transcription factor activity when SMO signalling is inactive. Upon ligand binding to the upstream receptor PTC (Patched) GLI dissociates from SUFU and activates transcription of hedgehog-target genes. In mammals it consists of SUFU and one of the GLI family proteins. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
10 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 | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
metal ion binding | Binding to a metal ion. |
microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
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 transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. |
sequence-specific DNA binding | Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. |
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. |
30 GO annotations of biological process
Name | Definition |
---|---|
cerebellar cortex morphogenesis | The process in which the anatomical structure of the cranial nerves are generated and organized. The cerebellar cortex is a thin mantle of gray matter that covers the surface of each cerebral hemisphere. It has a characteristic morphology with convolutions (gyri) and crevices (sulci) that have specific functions. Six layers of nerve cells and the nerve pathways that connect them comprise the cerebellar cortex. Together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function. |
digestive tract morphogenesis | The process in which the anatomical structures of the digestive tract are generated and organized. The digestive tract is the anatomical structure through which food passes and is processed. |
dorsal/ventral pattern formation | The regionalization process in which the areas along the dorsal/ventral axis are established that will lead to differences in cell differentiation. The dorsal/ventral axis is defined by a line that runs orthogonal to both the anterior/posterior and left/right axes. The dorsal end is defined by the upper or back side of an organism. The ventral end is defined by the lower or front side of an organism. |
epidermal cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of an epidermal cell, any of the cells making up the epidermis. |
liver regeneration | The regrowth of lost or destroyed liver. |
lung development | The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. |
negative regulation of canonical Wnt signaling pathway | Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
negative regulation of hh target transcription factor activity | Any process that decreases the activity of a transcription factor that activates transcription of Hedgehog-target genes in response to Smoothened signaling. In Drosophila, Cubitus interruptus (Ci) is the only identified transcription factor so far in the Hedgehog signaling pathway. In vertebrates members of the Gli protein family are activated by Hedgehog signaling. |
notochord regression | The developmental process in which the stucture of the notochord is destroyed in an embryo. |
osteoblast differentiation | The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone. |
pituitary gland development | The progression of the pituitary gland over time from its initial formation until its mature state. The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands. |
positive regulation of cardiac muscle cell proliferation | Any process that activates or increases the frequency, rate or extent of cardiac muscle cell proliferation. |
positive regulation of cell cycle G1/S phase transition | Any signalling pathway that activates or increases the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the cell cycle. |
positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
positive regulation of DNA replication | Any process that activates or increases the frequency, rate or extent of DNA replication. |
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 smoothened signaling pathway | Any process that activates or increases the frequency, rate or extent of smoothened signaling. |
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. |
prostate gland development | The process whose specific outcome is the progression of the prostate gland over time, from its formation to the mature structure. The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid. |
proximal/distal pattern formation | The regionalization process in which specific areas of cell differentiation are determined along a proximal/distal axis. The proximal/distal axis is defined by a line that runs from main body (proximal end) of an organism outward (distal end). |
regulation of hepatocyte proliferation | Any process that modulates the frequency, rate or extent of hepatocyte proliferation. |
regulation of osteoblast differentiation | Any process that modulates the frequency, rate or extent of osteoblast differentiation. |
regulation of smoothened signaling pathway | Any process that modulates the frequency, rate or extent of smoothened signaling. |
regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
response to wounding | 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 damage to the organism. |
smoothened signaling pathway | The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened. |
smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation | The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened in cerebellar granule cells that contributes to the regulation of proliferation of the cells. |
spermatid development | The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure. |
ventral midline development | The process whose specific outcome is the progression of the ventral midline over time, from its formation to the mature structure. In protostomes (such as insects, snails and worms) as well as deuterostomes (vertebrates), the midline is an embryonic region that functions in patterning of the adjacent nervous tissue. The ventral midline in insects is a cell population extending along the ventral surface of the embryo and is the region from which cells detach to form the ventrally located nerve cords. In vertebrates, the midline is originally located dorsally. During development, it folds inwards and becomes the ventral part of the dorsally located neural tube and is then called the ventral midline, or floor plate. |
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 |
Q9NTW7 | ZFP64 | Zinc finger protein 64 | Homo sapiens (Human) | PR |
O14978 | ZNF263 | Zinc finger protein 263 | Homo sapiens (Human) | PR |
O60304 | ZNF500 | Zinc finger protein 500 | 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 |
Q13127 | REST | RE1-silencing transcription factor | 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 |
Q9NQV6 | PRDM10 | PR domain zinc finger protein 10 | 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 |
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 |
Q8VIG1 | Rest | RE1-silencing transcription factor | 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 |
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 |
MFNSMTPPPI | SSYGEPCCLR | PLPSQGAPSV | GTEGLSGPPF | CHQANLMSGP | HSYGPARETN |
70 | 80 | 90 | 100 | 110 | 120 |
SCTEGPLFSS | PRSAVKLTKK | RALSISPLSD | ASLDLQTVIR | TSPSSLVAFI | NSRCTSPGGS |
130 | 140 | 150 | 160 | 170 | 180 |
YGHLSIGTMS | PSLGFPAQMN | HQKGPSPSFG | VQPCGPHDSA | RGGMIPHPQS | RGPFPTCQLK |
190 | 200 | 210 | 220 | 230 | 240 |
SELDMLVGKC | REEPLEGDMS | SPNSTGIQDP | LLGMLDGRED | LEREEKREPE | SVYETDCRWD |
250 | 260 | 270 | 280 | 290 | 300 |
GCSQEFDSQE | QLVHHINSEH | IHGERKEFVC | HWGGCSRELR | PFKAQYMLVV | HMRRHTGEKP |
310 | 320 | 330 | 340 | 350 | 360 |
HKCTFEGCRK | SYSRLENLKT | HLRSHTGEKP | YMCEHEGCSK | AFSNASDRAK | HQNRTHSNEK |
370 | 380 | 390 | 400 | 410 | 420 |
PYVCKLPGCT | KRYTDPSSLR | KHVKTVHGPD | AHVTKRHRGD | GPLPRAPSIS | TVEPKREREG |
430 | 440 | 450 | 460 | 470 | 480 |
GPIREESRLT | VPEGAMKPQP | SPGAQSSCSS | DHSPAGSAAN | TDSGVEMTGN | AGGSTEDLSS |
490 | 500 | 510 | 520 | 530 | 540 |
LDEGPCIAGT | GLSTLRRLEN | LRLDQLHQLR | PIGTRGLKLP | SLSHTGTTVS | RRVGPPVSLE |
550 | 560 | 570 | 580 | 590 | 600 |
RRSSSSSSIS | SAYTVSRRSS | LASPFPPGSP | PENGASSLPG | LMPAQHYLLR | ARYASARGGG |
610 | 620 | 630 | 640 | 650 | 660 |
TSPTAASSLD | RIGGLPMPPW | RSRAEYPGYN | PNAGVTRRAS | DPAQAADRPA | PARVQRFKSL |
670 | 680 | 690 | 700 | 710 | 720 |
GCVHTPPTVA | GGGQNFDPYL | PTSVYSPQPP | SITENAAMDA | RGLQEEPEVG | TSMVGSGLNP |
730 | 740 | 750 | 760 | 770 | 780 |
YMDFPPTDTL | GYGGPEGAAA | EPYGARGPGS | LPLGPGPPTN | YGPNPCPQQA | SYPDPTQETW |
790 | 800 | 810 | 820 | 830 | 840 |
GEFPSHSGLY | PGPKALGGTY | SQCPRLEHYG | QVQVKPEQGC | PVGSDSTGLA | PCLNAHPSEG |
850 | 860 | 870 | 880 | 890 | 900 |
PPHPQPLFSH | YPQPSPPQYL | QSGPYTQPPP | DYLPSEPRPC | LDFDSPTHST | GQLKAQLVCN |
910 | 920 | 930 | 940 | 950 | 960 |
YVQSQQELLW | EGGGREDAPA | QEPSYQSPKF | LGGSQVSPSR | AKAPVNTYGP | GFGPNLPNHK |
970 | 980 | 990 | 1000 | 1010 | 1020 |
SGSYPTPSPC | HENFVVGANR | ASHRAAAPPR | LLPPLPTCYG | PLKVGGTNPS | CGHPEVGRLG |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
GGPALYPPPE | GQVCNPLDSL | DLDNTQLDFV | AILDEPQGLS | PPPSHDQRGS | SGHTPPPSGP |
1090 | 1100 | ||||
PNMAVGNMSV | LLRSLPGETE | FLNSSA |