P28698
Gene name |
MZF1 (MZF, ZNF42, ZSCAN6) |
Protein name |
Myeloid zinc finger 1 |
Names |
MZF-1, Zinc finger and SCAN domain-containing protein 6, Zinc finger protein 42 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7593 |
EC number |
|
Protein Class |
|

Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

2 structures for P28698
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2FI2 | NMR | - | A/B | 37-128 | PDB |
AF-P28698-F1 | Predicted | AlphaFoldDB |
872 variants for P28698
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs139675613 CA9720752 |
2 | R>M | No |
ClinGen ESP ExAC gnomAD |
|
rs1334451410 CA407957162 |
3 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs772140250 CA9720750 COSM3389478 |
4 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1177296257 CA407957133 |
6 | L>V | No |
ClinGen TOPMed |
|
CA9720748 rs116446481 |
8 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs116446481 CA407957107 |
8 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9720747 rs564971103 |
9 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs947469373 CA407957082 |
10 | D>E | No |
ClinGen gnomAD |
|
rs564603001 CA9720746 |
11 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720745 rs189189919 |
11 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1208202595 CA407957059 |
13 | P>T | No |
ClinGen gnomAD |
|
rs1489505183 CA407957040 |
14 | P>L | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 15 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs756656050 CA9720744 |
16 | D>N | No |
ClinGen ExAC gnomAD |
|
rs116667211 CA9720743 |
17 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1283661187 CA407956975 |
20 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs375129468 CA310621677 |
21 | M>I | No |
ClinGen ESP TOPMed |
|
CA407956950 rs1240849521 |
22 | V>L | No |
ClinGen gnomAD |
|
CA9720738 rs762805774 |
25 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407956899 rs1369068875 |
26 | D>N | No |
ClinGen gnomAD |
|
rs1375552175 CA407956880 |
27 | S>C | No |
ClinGen TOPMed |
|
CA310621671 rs541347787 |
27 | S>P | No |
ClinGen gnomAD |
|
CA310621670 rs866118220 |
28 | E>* | No |
ClinGen Ensembl |
|
rs775271307 CA9720737 |
29 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407956830 rs1568687029 |
31 | G>D | No |
ClinGen Ensembl |
|
CA9720736 rs765105254 |
31 | G>S | No |
ClinGen ExAC gnomAD |
|
CA407956822 rs759544641 |
32 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 32 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9720735 rs759544641 |
32 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1271260700 CA407956802 |
34 | A>T | No |
ClinGen TOPMed |
|
CA407956733 rs774773643 |
39 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720732 rs774773643 |
39 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720731 rs774773643 |
39 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs11557617 CA9720729 |
40 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs780587844 CA9720728 |
41 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756537596 CA9720727 |
42 | A>T | No |
ClinGen ExAC gnomAD |
|
CA9720724 rs199500324 |
44 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs199500324 CA9720725 |
44 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs751205786 CA9720723 |
44 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199500324 CA9720726 |
44 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs763672659 CA9720722 |
45 | L>P | No |
ClinGen ExAC gnomAD |
|
rs758062386 CA9720721 |
46 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
COSM1216552 rs774647244 CA9720720 |
46 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA9720719 rs765116020 |
47 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs138687476 CA9720716 |
48 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9720717 COSM124651 rs138687476 |
48 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs766738366 CA9720718 |
48 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407956629 rs972415067 |
49 | C>R | No |
ClinGen TOPMed gnomAD |
|
CA310621607 rs972415067 |
49 | C>S | No |
ClinGen TOPMed gnomAD |
|
rs1171137578 CA407956608 |
50 | F>S | No |
ClinGen gnomAD |
|
rs377275321 CA9720714 |
51 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
VAR_047677 CA9720713 rs3752109 |
51 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9720711 rs775961914 |
52 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720712 rs377328811 |
52 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA407956564 rs770239833 |
53 | E>D | No |
ClinGen ExAC gnomAD |
|
rs556914659 CA9720708 |
54 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs556914659 CA9720709 |
54 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9720706 rs746467676 |
55 | A>D | No |
ClinGen ExAC gnomAD |
|
rs757712069 CA9720707 |
55 | A>T | No |
ClinGen ExAC gnomAD |
|
CA310621574 rs982019095 |
56 | T>I | No |
ClinGen TOPMed |
|
rs537231142 CA9720703 |
58 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs537231142 CA9720702 |
58 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA407956505 rs1568686743 |
59 | Q>* | No |
ClinGen Ensembl |
|
rs754862542 CA9720701 |
63 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1392312819 CA407956428 |
65 | L>P | No |
ClinGen TOPMed |
|
rs766279533 CA9720699 |
66 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766279533 CA9720700 |
66 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720698 rs370233993 |
66 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1454904759 CA407956404 |
67 | E>D | No |
ClinGen gnomAD |
|
rs751649312 CA9720697 |
67 | E>K | No |
ClinGen ExAC gnomAD |
|
CA9720695 rs571328177 |
69 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs763241551 CA9720694 |
70 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
COSM3743179 CA9720693 rs376418133 |
70 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA407956361 rs1417175786 |
71 | Q>P | No |
ClinGen TOPMed |
|
rs372625966 CA310621528 |
72 | W>* | No |
ClinGen ESP TOPMed gnomAD |
|
rs1475701019 CA407956345 |
72 | W>C | No |
ClinGen gnomAD |
|
CA9720692 rs200472691 |
74 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs759875440 CA9720691 |
74 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs759875440 CA407956328 |
74 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 75 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1197600909 CA407956305 |
76 | E>G | No |
ClinGen gnomAD |
|
TCGA novel | 76 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs963761608 CA310621511 |
76 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs148179129 CA9720687 |
78 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs148179129 CA407956286 |
78 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9720686 rs143757485 |
78 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs368879889 CA310621498 |
79 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9720685 rs368879889 |
79 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA407956269 rs1282937925 |
80 | K>Q | No |
ClinGen gnomAD |
|
CA9720684 rs778696441 |
81 | E>* | No |
ClinGen ExAC gnomAD |
|
CA9720683 rs191877920 |
82 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9720682 rs779742337 |
83 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720681 rs779742337 |
83 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA407956208 rs1250863205 |
84 | L>Q | No |
ClinGen TOPMed |
|
rs1452812511 CA407956187 |
86 | L>V | No |
ClinGen TOPMed |
|
TCGA novel | 90 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1404823033 CA407956124 |
91 | Q>R | No |
ClinGen gnomAD |
|
CA407956105 rs756087078 |
92 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA310621481 rs996380939 |
93 | L>V | No |
ClinGen TOPMed |
|
rs1344202773 COSM1216551 CA407956090 |
94 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA407956072 rs763189383 |
95 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720676 rs763189383 |
95 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407956060 rs1322977494 |
96 | L>P | No |
ClinGen TOPMed |
|
CA310621467 rs201987159 |
97 | P>T | No |
ClinGen Ensembl |
|
CA407956044 rs1181987770 |
98 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA9720672 rs777018460 |
98 | P>H | No |
ClinGen ExAC gnomAD |
|
rs771328495 CA9720670 |
99 | E>K | No |
ClinGen ExAC TOPMed |
|
rs773767270 CA9720667 |
101 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA9720666 rs771567748 |
102 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407955989 rs771567748 |
102 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs140640838 CA9720665 |
103 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
VAR_047678 CA9720664 rs3752110 |
103 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs768313388 CA9720663 |
105 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA407955950 rs748933298 |
106 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748933298 CA9720662 |
106 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1555803282 CA9720659 |
107 | Q>E | No |
ClinGen Ensembl |
|
CA9720657 rs745791475 |
108 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs145314624 CA9720658 |
108 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs781205849 CA9720656 |
110 | G>D | No |
ClinGen ExAC gnomAD |
|
CA407955903 rs1366047076 |
110 | G>S | No |
ClinGen gnomAD |
|
CA9720655 rs757271711 |
111 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407955880 rs1363235311 |
112 | P>A | No |
ClinGen TOPMed |
|
rs140308116 CA9720654 |
112 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9720653 rs369603668 |
113 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA9720651 rs754060329 |
114 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1263081002 CA407955830 |
116 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1031788780 CA310621402 |
117 | A>S | No |
ClinGen gnomAD |
|
rs1031788780 CA407955816 |
117 | A>T | No |
ClinGen gnomAD |
|
rs775255906 CA310621398 |
117 | A>V | No |
ClinGen Ensembl |
|
rs761095154 CA9720649 |
119 | V>L | No |
ClinGen ExAC gnomAD |
|
rs773571499 CA9720648 |
123 | R>C | Variant assessed as Somatic; 0.0003303 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1405571316 CA407955746 |
123 | R>H | No |
ClinGen gnomAD |
|
rs1405571316 CA407955743 |
123 | R>L | No |
ClinGen gnomAD |
|
CA9720646 rs551463835 |
124 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs144089410 CA9720647 |
124 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA407955731 rs1428441111 |
125 | E>Q | No |
ClinGen gnomAD |
|
COSM1216555 CA9720644 rs768099434 |
126 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA9720645 rs376604286 |
126 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
rs371956787 CA9720642 |
127 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs142655497 CA9720641 |
128 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs745598986 CA407955683 |
130 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs3752111 VAR_047679 CA9720639 |
130 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9720640 rs745598986 |
130 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1440922880 CA407955671 |
131 | R>K | No |
ClinGen gnomAD |
|
rs145449797 CA9720638 |
132 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA407955651 rs1265221278 |
132 | W>L | No |
ClinGen gnomAD |
|
CA407955655 rs1265221278 |
132 | W>S | No |
ClinGen gnomAD |
|
CA407955578 rs1355699361 |
133 | V>F | No |
ClinGen gnomAD |
|
CA407955558 rs1387503939 |
135 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs928441079 CA310621153 |
136 | Q>P | No |
ClinGen Ensembl |
|
CA9720617 rs777638367 |
137 | V>M | No |
ClinGen ExAC gnomAD |
|
CA9720615 rs749309940 |
140 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs780132383 CA9720614 |
141 | E>V | No |
ClinGen ExAC gnomAD |
|
CA9720612 rs750692129 |
142 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757629894 CA9720610 |
143 | L>I | No |
ClinGen ExAC gnomAD |
|
rs751953090 CA9720609 |
143 | L>P | No |
ClinGen ExAC gnomAD |
|
rs923386820 CA407955357 |
145 | E>* | No |
ClinGen TOPMed gnomAD |
|
rs923386820 CA310621137 |
145 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA407955361 rs923386820 |
145 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA407955293 rs1304410738 |
147 | M>I | No |
ClinGen gnomAD |
|
rs1392667130 CA407955254 |
149 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA9720608 rs764447323 |
150 | S>C | No |
ClinGen ExAC gnomAD |
|
CA310621134 rs377395522 |
151 | S>N | No |
ClinGen gnomAD |
|
rs763535444 CA9720607 |
152 | F>S | No |
ClinGen ExAC gnomAD |
|
rs1368971073 CA407955139 |
154 | P>R | No |
ClinGen TOPMed |
|
rs1367941285 CA407955151 |
154 | P>S | No |
ClinGen gnomAD |
|
CA407955127 rs1412309061 |
155 | L>P | No |
ClinGen gnomAD |
|
rs200148787 CA9720606 |
157 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 159 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs764883619 CA9720605 |
160 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1568685503 CA407955024 |
160 | P>S | No |
ClinGen Ensembl |
|
rs1417665304 CA407955013 |
161 | P>T | No |
ClinGen TOPMed |
|
rs1362318804 CA407954991 |
162 | T>S | No |
ClinGen TOPMed gnomAD |
|
rs115687020 CA9720604 |
162 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA310621124 rs866045689 |
163 | P>L | No |
ClinGen Ensembl |
|
CA407954958 rs914253576 |
164 | E>D | No |
ClinGen TOPMed |
|
CA407954936 rs1419846667 |
165 | P>R | No |
ClinGen gnomAD |
|
rs776488214 CA9720603 |
166 | G>V | No |
ClinGen ExAC gnomAD |
|
CA9720599 rs748121531 |
170 | P>S | No |
ClinGen ExAC gnomAD |
|
CA9720598 rs748121531 |
170 | P>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 171 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9720595 rs746085169 |
173 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720594 rs528914578 |
174 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1317067728 CA407954778 |
174 | M>V | No |
ClinGen gnomAD |
|
CA9720593 rs757511397 |
176 | E>K | No |
ClinGen ExAC gnomAD |
|
CA9720592 rs751818462 |
177 | S>A | No |
ClinGen ExAC gnomAD |
|
rs758946222 CA9720590 |
180 | G>D | No |
ClinGen ExAC gnomAD |
|
CA310621076 rs966592220 |
182 | Q>* | No |
ClinGen Ensembl |
|
CA9720589 rs753308724 |
183 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407954640 rs1174446309 |
185 | E>A | No |
ClinGen gnomAD |
|
CA9720587 rs759187784 |
185 | E>D | No |
ClinGen ExAC gnomAD |
|
rs753404048 CA407954629 |
186 | E>* | No |
ClinGen ExAC gnomAD |
|
CA407954624 rs1200033642 |
186 | E>A | No |
ClinGen gnomAD |
|
CA9720586 rs753404048 |
186 | E>K | No |
ClinGen ExAC gnomAD |
|
CA9720585 rs765890076 |
187 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1209491117 CA407954604 |
188 | E>K | No |
ClinGen TOPMed |
|
CA407954576 rs1206613911 |
190 | T>A | No |
ClinGen gnomAD |
|
rs368060756 CA9720582 |
192 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
rs563098655 CA9720581 |
193 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 198 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1196910236 CA407953807 |
199 | G>E | No |
ClinGen gnomAD |
|
CA407953812 rs1275781078 |
199 | G>R | No |
ClinGen gnomAD |
|
rs889403657 CA310620701 |
200 | P>S | No |
ClinGen gnomAD |
|
CA407953780 rs1272083429 |
204 | T>S | No |
ClinGen gnomAD |
|
rs763915703 CA407953775 |
205 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720545 rs763915703 |
205 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752739442 CA9720543 |
206 | E>K | No |
ClinGen ExAC gnomAD |
|
rs752739442 CA9720544 |
206 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs773183315 CA9720540 |
208 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1161508694 CA407953750 |
209 | P>R | No |
ClinGen gnomAD |
|
CA9720539 rs772374717 |
211 | L>F | No |
ClinGen ExAC gnomAD |
|
CA407953734 rs1482693134 |
212 | L>P | No |
ClinGen TOPMed |
|
CA407953727 rs1414127596 |
213 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs774828731 CA9720537 |
215 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA9720536 rs61731800 |
216 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA407953705 rs1181820957 |
217 | Q>E | No |
ClinGen gnomAD |
|
CA407953686 rs1440577228 |
218 | R>G | No |
ClinGen TOPMed |
|
CA9720521 rs200449491 |
218 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200449491 CA9720522 |
218 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA407953674 rs1203161029 |
219 | C>W | No |
ClinGen gnomAD |
|
CA310620545 rs903358256 |
220 | G>E | No |
ClinGen TOPMed gnomAD |
|
CA9720520 rs767748452 |
220 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407953670 rs903358256 |
220 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs1269393564 CA407953661 |
222 | V>A | No |
ClinGen gnomAD |
|
CA9720518 rs545859698 COSM3960649 |
222 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA9720517 rs545859698 |
222 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA310620530 rs916187886 |
224 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA407953645 rs1403305421 |
225 | Q>* | No |
ClinGen gnomAD |
|
CA9720514 rs746401031 |
226 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720513 rs746401031 |
226 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1434267396 CA407953627 |
227 | F>L | No |
ClinGen gnomAD |
|
rs1419412363 CA407953623 |
228 | P>L | No |
ClinGen gnomAD |
|
TCGA novel | 229 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs915843148 CA310620513 |
230 | S>G | No |
ClinGen TOPMed |
|
CA407953608 rs1476576859 |
230 | S>I | No |
ClinGen TOPMed gnomAD |
|
CA310620497 rs991418143 |
232 | T>I | No |
ClinGen Ensembl |
|
rs1265088633 CA407953574 |
235 | E>D | No |
ClinGen gnomAD |
|
CA407953579 rs1460121296 |
235 | E>Q | No |
ClinGen gnomAD |
|
rs201976128 CA9720510 |
236 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs758000217 CA9720508 |
238 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs752492102 CA9720507 |
239 | W>* | No |
ClinGen ExAC gnomAD |
|
CA407953543 rs1235077435 |
240 | R>S | No |
ClinGen Ensembl |
|
CA310620476 rs984566104 |
240 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA407953542 rs1165506941 |
241 | E>K | No |
ClinGen gnomAD |
|
CA9720505 rs754915799 |
243 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1568684158 CA407953512 |
245 | A>S | No |
ClinGen Ensembl |
|
CA310620475 rs144703698 |
246 | L>R | No |
ClinGen ESP TOPMed gnomAD |
|
rs1354511054 CA407953496 |
247 | W>C | No |
ClinGen gnomAD |
|
CA407953485 rs1412084844 |
249 | E>* | No |
ClinGen gnomAD |
|
rs767697553 CA9720503 |
250 | E>K | No |
ClinGen ExAC gnomAD |
|
CA9720502 rs757336742 |
251 | A>G | No |
ClinGen ExAC gnomAD |
|
CA407953465 rs1443027660 |
252 | G>W | No |
ClinGen gnomAD |
|
CA9720500 rs764324165 |
255 | F>L | No |
ClinGen ExAC gnomAD |
|
rs775891344 CA9720499 |
256 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720498 rs775891344 |
256 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720497 rs765568404 |
257 | P>L | No |
ClinGen ExAC gnomAD |
|
CA9720463 rs547298721 |
258 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs547298721 CA407952757 |
258 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 259 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs777893427 CA9720462 COSM3693169 |
260 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs939988021 CA310618636 |
263 | L>P | No |
ClinGen Ensembl |
|
CA310618634 rs757896533 |
264 | G>C | No |
ClinGen TOPMed gnomAD |
|
rs757896533 CA407952724 |
264 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA407952711 rs1287768028 |
266 | I>V | No |
ClinGen TOPMed |
|
rs749863240 CA310618633 |
267 | S>F | No |
ClinGen Ensembl |
|
CA9720457 rs754161627 |
268 | A>E | No |
ClinGen ExAC gnomAD |
|
rs374539216 CA9720459 |
268 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
CA9720458 rs374539216 |
268 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
CA310618625 rs867899817 |
269 | G>C | No |
ClinGen Ensembl |
|
rs1383124294 CA407952694 |
269 | G>D | No |
ClinGen gnomAD |
|
CA407952692 rs1378167206 |
270 | P>A | No |
ClinGen gnomAD |
|
CA9720456 rs766773104 |
270 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720455 rs761152473 |
271 | G>V | No |
ClinGen ExAC gnomAD |
|
CA310618620 rs944512186 |
272 | S>I | No |
ClinGen TOPMed gnomAD |
|
rs944512186 CA407952678 |
272 | S>T | No |
ClinGen TOPMed gnomAD |
|
CA310618617 rs971207662 |
274 | S>I | No |
ClinGen Ensembl |
|
rs1210087551 CA407952669 |
274 | S>R | No |
ClinGen TOPMed |
|
rs767052126 CA9720453 |
274 | S>R | No |
ClinGen ExAC gnomAD |
|
rs1600098011 CA407952659 |
275 | P>R | No |
ClinGen Ensembl |
|
CA407952663 rs1269083545 |
275 | P>T | No |
ClinGen TOPMed |
|
CA407952657 rs1427672909 |
276 | H>N | No |
ClinGen gnomAD |
|
rs1600097993 CA407952653 |
276 | H>P | No |
ClinGen Ensembl |
|
TCGA novel | 279 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs773932356 CA9720451 |
279 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407952620 rs768378644 |
281 | W>* | No |
ClinGen ExAC gnomAD |
|
CA9720450 rs768378644 |
281 | W>L | No |
ClinGen ExAC gnomAD |
|
CA407952612 rs1600097945 |
282 | D>G | No |
ClinGen Ensembl |
|
rs762731329 CA9720449 |
283 | L>F | No |
ClinGen ExAC gnomAD |
|
CA9720448 rs775401765 |
284 | G>R | No |
ClinGen ExAC gnomAD |
|
CA407952603 rs775401765 |
284 | G>S | No |
ClinGen ExAC gnomAD |
|
rs769769400 CA9720447 |
284 | G>V | No |
ClinGen ExAC gnomAD |
|
CA9720446 rs745811308 |
285 | M>L | No |
ClinGen ExAC gnomAD |
|
CA407952597 rs1412052152 |
285 | M>T | No |
ClinGen TOPMed |
|
CA407952590 rs780923513 |
286 | A>P | No |
ClinGen ExAC gnomAD |
|
CA9720445 rs780923513 |
286 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs371153551 CA310618604 |
289 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
rs371153551 CA407952570 |
289 | S>F | No |
ClinGen ESP TOPMed gnomAD |
|
CA9720444 rs144933302 |
290 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9720443 rs144933302 |
290 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9720441 rs755164782 |
291 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755164782 CA407952564 |
291 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs115308072 CA9720439 RCV000891254 |
292 | I>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA407952541 rs1600097840 |
294 | S>* | No |
ClinGen Ensembl |
|
CA407952543 rs1371130211 |
294 | S>T | No |
ClinGen gnomAD |
|
rs1449758705 CA407952535 |
295 | P>S | No |
ClinGen gnomAD |
|
CA407952537 rs1449758705 |
295 | P>T | No |
ClinGen gnomAD |
|
rs750811133 CA9720436 |
296 | S>T | No |
ClinGen ExAC gnomAD |
|
CA9720435 rs767860391 |
297 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs767860391 CA407952523 |
297 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767860391 CA310618594 |
297 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407952516 rs1311146134 |
298 | E>D | No |
ClinGen TOPMed |
|
rs1256184025 CA407952511 |
299 | G>D | No |
ClinGen gnomAD |
|
rs762409589 CA9720434 |
300 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407952504 rs762409589 |
300 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 301 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs958860070 CA310618587 |
302 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA310618588 rs992988735 |
302 | A>P | No |
ClinGen TOPMed |
|
rs958860070 CA407952492 |
302 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA310618585 rs867442384 |
303 | H>Q | No |
ClinGen Ensembl |
|
CA310618584 rs957313200 |
306 | L>M | No |
ClinGen Ensembl |
|
CA9720431 rs138151080 |
307 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs775348375 CA9720430 |
307 | L>P | No |
ClinGen ExAC gnomAD |
|
rs769574079 CA9720429 |
308 | P>A | No |
ClinGen ExAC gnomAD |
|
rs531744684 CA310618577 |
309 | S>N | No |
ClinGen 1000Genomes |
|
TCGA novel | 310 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs759195794 CA9720427 |
310 | D>V | No |
ClinGen ExAC gnomAD |
|
rs146379468 CA9720426 |
311 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1368545755 CA407952434 |
313 | S>R | No |
ClinGen gnomAD |
|
CA9720424 rs114386645 |
313 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1254593858 CA407952425 |
314 | E>* | No |
ClinGen TOPMed gnomAD |
|
CA9720421 rs372763261 |
314 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1254593858 CA407952427 |
314 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA407952417 rs1490283124 |
315 | Q>R | No |
ClinGen gnomAD |
|
CA407952412 rs1168124649 |
316 | D>N | No |
ClinGen TOPMed |
|
CA9720420 rs780185814 |
317 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1230240552 CA407952402 |
317 | P>S | No |
ClinGen gnomAD |
|
TCGA novel | 318 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs746176499 CA9720419 |
318 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746176499 CA9720418 |
318 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781647436 CA9720417 |
319 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757679192 CA9720416 |
320 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1600097570 CA407952378 |
321 | D>V | No |
ClinGen Ensembl |
|
CA407952379 rs1410305517 |
321 | D>Y | No |
ClinGen gnomAD |
|
rs752165102 CA9720415 |
322 | P>A | No |
ClinGen ExAC gnomAD |
|
CA407952372 rs752165102 |
322 | P>S | No |
ClinGen ExAC gnomAD |
|
CA9720413 rs560478847 |
324 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs369616031 CA9720411 |
324 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs560478847 CA9720412 |
324 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs140195199 CA9720409 |
325 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs140195199 CA407952355 |
325 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1414902332 CA407952342 |
327 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA9720406 rs148231126 |
328 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs148231126 CA9720407 |
328 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs766246594 CA9720408 |
328 | P>T | No |
ClinGen ExAC gnomAD |
|
rs374145510 CA9720404 |
331 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs4756 CA9720405 VAR_014826 |
331 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA407952319 rs1283789791 |
332 | T>N | No |
ClinGen gnomAD |
|
rs1452472397 CA407952320 |
332 | T>S | No |
ClinGen gnomAD |
|
rs769872401 CA407952309 |
334 | R>C | No |
ClinGen ExAC gnomAD |
|
rs1289024503 CA407952308 |
334 | R>H | No |
ClinGen gnomAD |
|
rs769872401 CA9720402 |
334 | R>S | No |
ClinGen ExAC gnomAD |
|
CA9720400 rs370089804 |
336 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9720401 rs370089804 |
336 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1272917091 CA407952288 |
337 | S>C | No |
ClinGen TOPMed gnomAD |
|
CA407952287 rs1272917091 |
337 | S>F | No |
ClinGen TOPMed gnomAD |
|
CA9720397 rs778365813 |
338 | P>A | No |
ClinGen ExAC gnomAD |
|
CA310618545 COSM1397358 rs908489063 |
338 | P>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
CA9720398 rs778365813 |
338 | P>T | No |
ClinGen ExAC gnomAD |
|
rs752216868 CA9720395 |
339 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752216868 CA407952279 |
339 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407952280 rs752216868 |
339 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1171541312 CA407952281 |
339 | R>W | No |
ClinGen gnomAD |
|
CA407952273 rs1339225416 |
340 | G>C | No |
ClinGen TOPMed |
|
TCGA novel | 340 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs575404835 CA407952266 |
341 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs555856319 CA9720392 |
341 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs555856319 CA9720393 |
341 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9720394 rs575404835 |
341 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9720389 rs773008446 |
342 | S>R | No |
ClinGen ExAC gnomAD |
|
rs1478548117 CA407952254 |
343 | R>W | No |
ClinGen gnomAD |
|
CA310618534 rs915754284 |
345 | R>C | No |
ClinGen gnomAD |
|
CA407952237 rs1268866734 |
345 | R>H | No |
ClinGen gnomAD |
|
CA9720386 rs146251309 |
346 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 346 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1217098184 CA407952216 |
348 | T>A | No |
ClinGen TOPMed |
|
CA310618528 rs925673573 |
348 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA407952209 rs1568677703 |
349 | G>R | No |
ClinGen Ensembl |
|
CA310618514 rs967028196 |
351 | G>A | No |
ClinGen gnomAD |
|
CA310618515 rs977142237 |
351 | G>R | No |
ClinGen gnomAD |
|
CA407952184 rs1320718763 |
352 | V>L | No |
ClinGen gnomAD |
|
CA407952165 rs1464362987 |
354 | R>T | No |
ClinGen TOPMed |
|
CA9720376 rs778314996 |
355 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720377 rs747327387 |
355 | G>S | No |
ClinGen ExAC gnomAD |
|
rs772677631 CA407952152 |
356 | G>C | No |
ClinGen ExAC gnomAD |
|
rs772677631 CA9720375 |
356 | G>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 357 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA407952142 rs1488904618 |
357 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs748715024 CA9720374 |
358 | C>* | No |
ClinGen ExAC gnomAD |
|
rs1183112803 CA407952135 |
358 | C>R | No |
ClinGen gnomAD |
|
rs533880998 CA9720373 |
360 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9720372 rs754586769 |
361 | C>S | No |
ClinGen ExAC gnomAD |
|
CA407952103 rs1272092292 |
362 | G>R | No |
ClinGen gnomAD |
|
CA9720370 CA407952088 rs779702563 |
363 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA310618502 rs1029198993 |
363 | K>Q | No |
ClinGen TOPMed |
|
rs200660383 CA9720371 |
363 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs755791522 CA407952050 |
365 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1244722945 CA407952034 |
367 | Q>K | No |
ClinGen gnomAD |
|
CA9720368 rs750184537 |
368 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1304009000 CA407951999 |
369 | S>G | No |
ClinGen gnomAD |
|
CA407951985 rs1433856825 |
369 | S>R | No |
ClinGen TOPMed |
|
CA407951933 rs751563614 |
373 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1367721700 CA407951930 |
373 | R>K | No |
ClinGen TOPMed |
|
rs763942107 CA9720363 |
375 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA407951875 rs1163205106 CA407951877 |
376 | K>N | No |
ClinGen TOPMed gnomAD |
|
rs1422247669 CA407951863 |
377 | I>S | No |
ClinGen gnomAD |
|
CA407951854 rs1416062233 |
378 | H>Y | No |
ClinGen gnomAD |
|
TCGA novel | 379 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9720362 rs759600256 |
379 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407951833 rs759600256 |
379 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1036842671 CA310618487 |
380 | G>D | No |
ClinGen Ensembl |
|
rs1286094326 CA407951818 |
381 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA9720361 rs371479592 |
382 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9720360 rs554541283 |
383 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 384 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9720359 rs761020878 |
384 | F>S | No |
ClinGen ExAC gnomAD |
|
rs368017228 CA9720356 |
386 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs368017228 CA9720357 |
386 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs779412978 CA9720355 |
386 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs1373302431 CA407951746 |
387 | S>G | No |
ClinGen gnomAD |
|
rs748787144 CA9720353 |
388 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407951713 rs1201762253 |
389 | C>R | No |
ClinGen TOPMed |
|
TCGA novel | 393 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA310618472 rs1046396044 |
394 | S>G | No |
ClinGen TOPMed |
|
CA407951617 rs1301509948 |
396 | S>C | No |
ClinGen Ensembl |
|
CA9720347 rs949981061 |
397 | S>L | No |
ClinGen Ensembl |
|
CA9720348 rs949981061 |
397 | S>W | No |
ClinGen Ensembl |
|
CA407951574 rs1409786573 |
398 | H>Q | No |
ClinGen gnomAD |
|
CA9720344 rs750131237 |
399 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756977306 CA9720342 |
400 | L>R | No |
ClinGen ExAC |
|
CA9720341 rs751323279 |
401 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1487340060 CA407951543 |
402 | H>Y | No |
ClinGen gnomAD |
|
CA9720338 rs762829313 |
404 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407951500 rs1055653352 |
405 | T>K | No |
ClinGen TOPMed gnomAD |
|
CA310618462 rs1055653352 |
405 | T>M | No |
ClinGen TOPMed gnomAD |
|
CA407951489 rs1354146148 |
406 | H>R | No |
ClinGen TOPMed |
|
rs1281166005 CA407951491 |
406 | H>Y | No |
ClinGen TOPMed |
|
CA407951471 rs766615077 |
407 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720336 rs766615077 |
407 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA310618459 rs866276822 |
408 | E>D | No |
ClinGen gnomAD |
|
rs1385418926 CA407951463 |
408 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1385418926 CA407951461 |
408 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs552709564 CA9720335 |
410 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs925778333 CA310618457 |
410 | R>Q | No |
ClinGen Ensembl |
|
CA407951429 rs552709564 |
410 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9720333 rs772430748 |
411 | P>S | No |
ClinGen ExAC gnomAD |
|
rs772430748 CA407951422 |
411 | P>T | No |
ClinGen ExAC gnomAD |
|
CA407951403 rs1161389310 |
412 | F>S | No |
ClinGen gnomAD |
|
rs374399017 CA9720332 |
413 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
rs1568677106 CA407951396 |
413 | V>L | No |
ClinGen Ensembl |
|
CA407951376 rs1482746116 |
414 | C>F | No |
ClinGen TOPMed |
|
rs1197956553 CA407951383 |
414 | C>R | No |
ClinGen gnomAD |
|
rs149020787 CA9720330 |
415 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9720328 rs775048815 |
417 | C>S | No |
ClinGen ExAC gnomAD |
|
CA9720327 rs201061358 |
417 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs911568599 CA310618446 |
419 | Q>E | No |
ClinGen Ensembl |
|
CA9720326 rs745385505 |
419 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs987090952 CA310618443 |
420 | G>D | No |
ClinGen TOPMed |
|
rs780763181 CA9720325 |
420 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1231644770 CA407951288 |
421 | F>L | No |
ClinGen TOPMed gnomAD |
|
CA407951299 rs1255897731 |
421 | F>L | No |
ClinGen gnomAD |
|
CA9720324 rs756925767 |
422 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA310618440 rs756925767 |
422 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1314339663 CA407951284 |
422 | V>L | No |
ClinGen gnomAD |
|
CA407951274 rs1363270477 |
423 | R>C | No |
ClinGen gnomAD |
|
CA407951273 rs1322723713 |
423 | R>H | No |
ClinGen gnomAD |
|
TCGA novel | 423 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1363270477 CA407951278 |
423 | R>S | No |
ClinGen gnomAD |
|
rs546958807 CA407951253 |
424 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9720321 rs758334010 |
425 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720320 rs752636714 |
426 | R>L | No |
ClinGen ExAC gnomAD |
|
CA9720319 rs371879365 |
428 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9720318 rs756199355 |
428 | E>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 428 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA310618435 rs1057158311 |
429 | E>K | No |
ClinGen TOPMed |
|
rs761975366 CA9720316 |
430 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1338695255 CA407951190 |
430 | H>R | No |
ClinGen TOPMed |
|
CA9720317 rs750546743 |
430 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA407951178 rs1464972034 |
431 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1484490981 CA407951150 |
433 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs1257012738 CA407951136 |
434 | H>R | No |
ClinGen gnomAD |
|
CA9720312 rs763508871 |
435 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407951113 rs1229353588 |
436 | G>D | No |
ClinGen gnomAD |
|
CA9720310 rs770298064 |
436 | G>R | No |
ClinGen ExAC gnomAD |
|
CA9720309 rs745330572 |
437 | E>* | No |
ClinGen ExAC gnomAD |
|
rs1029640959 CA310618425 |
438 | Q>R | No |
ClinGen Ensembl |
|
CA9720307 rs368717285 |
439 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9720306 rs746690891 |
439 | P>L | No |
ClinGen ExAC gnomAD |
|
rs368717285 CA9720308 |
439 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs777612039 CA310618422 |
440 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1428839622 CA407951043 |
440 | F>L | No |
ClinGen gnomAD |
|
CA9720305 rs777612039 |
440 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1388035801 CA407951031 |
441 | R>C | No |
ClinGen gnomAD |
|
VAR_047680 CA9720304 rs2229255 |
441 | R>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs747981728 CA9720303 |
442 | C>F | No |
ClinGen ExAC gnomAD |
|
CA407951013 rs747981728 |
442 | C>S | No |
ClinGen ExAC gnomAD |
|
rs747981728 CA407951010 |
442 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs1184761696 CA407950993 |
443 | A>S | No |
ClinGen gnomAD |
|
CA310618417 rs918885391 |
445 | C>S | No |
ClinGen TOPMed |
|
CA407950963 rs1257443350 |
445 | C>S | No |
ClinGen gnomAD |
|
CA407950955 rs918885391 |
445 | C>Y | No |
ClinGen TOPMed |
|
TCGA novel | 446 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs774236802 CA9720301 |
446 | G>S | No |
ClinGen ExAC gnomAD |
|
CA407950914 rs1482292533 |
447 | Q>H | No |
ClinGen gnomAD |
|
rs750495390 CA9720300 |
448 | S>T | No |
ClinGen ExAC gnomAD |
|
rs973356891 CA407950870 |
450 | R>L | No |
ClinGen TOPMed gnomAD |
|
CA310618413 rs973356891 |
450 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs767750607 CA9720299 |
450 | R>W | No |
ClinGen ExAC gnomAD |
|
rs751793759 CA9720297 |
454 | N>H | No |
ClinGen ExAC gnomAD |
|
rs1409091971 CA407950752 |
455 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs1293850350 CA407950755 |
455 | L>V | No |
ClinGen gnomAD |
|
rs1368472723 CA407950738 |
456 | L>M | No |
ClinGen TOPMed gnomAD |
|
CA9720296 rs764379215 |
456 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720295 rs763167545 |
457 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA310618410 rs561645926 |
458 | H>P | No |
ClinGen 1000Genomes gnomAD |
|
rs1368490972 CA407950699 |
458 | H>Q | No |
ClinGen TOPMed gnomAD |
|
CA407950710 rs1160991104 |
458 | H>Y | No |
ClinGen gnomAD |
|
CA9720293 rs765692330 |
459 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720292 rs760075269 |
460 | R>H | No |
ClinGen ExAC gnomAD |
|
CA9720290 rs770405262 |
462 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407950628 rs1267509112 |
463 | G>D | No |
ClinGen gnomAD |
|
CA9720289 rs760372307 |
463 | G>S | No |
ClinGen ExAC gnomAD |
|
CA407950594 rs1227721073 |
465 | P>S | No |
ClinGen gnomAD |
|
CA9720284 rs370449872 |
466 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs370449872 CA9720285 |
466 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9720286 rs772674910 |
466 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781413469 CA9720280 |
467 | G>S | No |
ClinGen ExAC gnomAD |
|
CA310618383 rs894418953 |
467 | G>V | No |
ClinGen Ensembl |
|
rs1463025823 CA407950520 |
468 | P>S | No |
ClinGen TOPMed |
|
rs935907450 CA310618377 |
469 | G>D | No |
ClinGen Ensembl |
|
CA9720279 rs757215553 |
469 | G>S | No |
ClinGen ExAC gnomAD |
|
rs1334316787 CA407950490 |
470 | A>P | No |
ClinGen TOPMed gnomAD |
|
rs75984033 CA310618374 |
471 | K>N | No |
ClinGen ExAC gnomAD |
|
CA407949533 rs1428757109 |
472 | P>A | No |
ClinGen TOPMed |
|
CA9720277 rs777807962 |
472 | P>L | No |
ClinGen ExAC gnomAD |
|
CA407949513 rs1456172769 |
473 | P>A | No |
ClinGen TOPMed gnomAD |
|
rs1477379214 CA407949487 |
474 | A>S | No |
ClinGen TOPMed |
|
TCGA novel | 475 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs758676175 CA9720274 |
476 | P>L | No |
ClinGen ExAC gnomAD |
|
CA407949455 rs1408260949 |
476 | P>S | No |
ClinGen TOPMed |
|
rs1000070536 CA310618369 |
477 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA9720273 rs753028250 |
478 | A>V | No |
ClinGen ExAC gnomAD |
|
rs765638825 CA9720272 |
479 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1201283619 CA407949403 |
479 | P>S | No |
ClinGen gnomAD |
|
rs754410617 CA310618367 |
480 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754410617 CA9720270 |
480 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1327046479 CA407949360 |
481 | P>L | No |
ClinGen gnomAD |
|
rs1224224291 CA407949349 |
482 | P>R | No |
ClinGen gnomAD |
|
CA9720269 rs766916808 |
483 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA310618364 rs911640755 |
485 | F>L | No |
ClinGen TOPMed |
|
CA310618362 rs1010540470 |
487 | C>* | No |
ClinGen TOPMed |
|
CA407949246 rs1227036960 |
489 | E>D | No |
ClinGen TOPMed |
|
rs772804703 CA9720267 |
489 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1371266289 CA407949256 |
489 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA310618360 rs867776677 |
490 | C>Y | No |
ClinGen gnomAD |
|
CA407949228 rs1390134849 |
491 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA407949226 rs1390134849 |
491 | R>P | No |
ClinGen TOPMed gnomAD |
|
rs987121941 CA310618357 |
492 | E>G | No |
ClinGen gnomAD |
|
rs761601809 CA9720265 |
493 | S>R | No |
ClinGen ExAC gnomAD |
|
CA310618353 rs557389571 |
494 | F>L | No |
ClinGen gnomAD |
|
CA407949199 rs1454920470 |
495 | A>P | No |
ClinGen gnomAD |
|
CA407949195 rs1389747611 |
495 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA310618352 rs921585201 |
496 | R>Q | No |
ClinGen Ensembl |
|
CA9720264 rs190254725 |
496 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA407949191 rs974082363 |
497 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs974082363 CA310618349 |
497 | R>G | No |
ClinGen TOPMed gnomAD |
|
CA407949185 rs1216418539 |
497 | R>L | No |
ClinGen gnomAD |
|
CA407949190 rs974082363 |
497 | R>S | No |
ClinGen TOPMed gnomAD |
|
CA407949182 rs1441721843 |
498 | A>T | No |
ClinGen gnomAD |
|
rs576518777 CA407949157 CA310618346 |
499 | V>L | No |
ClinGen 1000Genomes TOPMed |
|
CA310618343 rs1015134616 |
502 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1015134616 CA310618342 |
502 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs905991229 CA407949045 |
504 | Q>H | No |
ClinGen TOPMed |
|
CA9720261 rs201388932 COSM3693167 |
504 | Q>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA407949059 rs201388932 |
504 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1366782156 CA407949031 |
505 | A>E | No |
ClinGen TOPMed gnomAD |
|
rs747018178 CA9720259 |
506 | V>G | No |
ClinGen ExAC gnomAD |
|
rs1436501897 CA407949022 |
506 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA407948970 rs1336634038 |
508 | T>A | No |
ClinGen gnomAD |
|
CA9720258 rs777948499 |
508 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407948964 rs777948499 |
508 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752975044 CA9720256 |
509 | G>D | No |
ClinGen ExAC gnomAD |
|
rs758525901 CA9720257 |
509 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758525901 CA310618331 |
509 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA310618327 rs868496815 |
510 | D>E | No |
ClinGen Ensembl |
|
CA407948942 rs1420342304 |
510 | D>N | No |
ClinGen gnomAD |
|
rs867580646 CA310618325 |
511 | K>Q | No |
ClinGen Ensembl |
|
CA9720255 rs537448494 |
512 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9720254 rs537448494 |
512 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1222682996 CA407948842 |
514 | G>A | No |
ClinGen TOPMed |
|
rs150590904 CA9720253 |
514 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1481757534 CA407948811 |
515 | C>W | No |
ClinGen TOPMed |
|
CA407948771 rs1251205312 |
518 | C>G | No |
ClinGen TOPMed |
|
rs1251205312 CA407948774 |
518 | C>S | No |
ClinGen TOPMed |
|
rs761279473 CA9720251 |
519 | G>S | No |
ClinGen ExAC |
|
rs749873621 CA407948747 |
520 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720250 rs749873621 |
520 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767108912 CA9720249 |
521 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720248 TCGA novel rs368446779 |
522 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA |
CA9720247 rs774076335 |
525 | R>C | No |
ClinGen ExAC gnomAD |
|
CA407948658 rs1415864177 |
528 | L>M | No |
ClinGen gnomAD |
|
CA407948641 rs1306506926 |
530 | Q>* | No |
ClinGen gnomAD |
|
CA407948631 rs1431912713 |
530 | Q>H | No |
ClinGen gnomAD |
|
TCGA novel | 531 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs775384356 CA9720244 |
532 | R>W | No |
ClinGen ExAC gnomAD |
|
CA407948597 rs1415973053 |
533 | R>C | No |
ClinGen gnomAD |
|
rs1190025259 CA407948582 |
534 | V>A | No |
ClinGen gnomAD |
|
rs1250868888 CA407948570 |
535 | H>R | No |
ClinGen gnomAD |
|
rs745866341 CA407948552 |
536 | S>R | No |
ClinGen ExAC gnomAD |
|
rs1378885026 CA407948555 |
536 | S>T | No |
ClinGen TOPMed gnomAD |
|
CA407948532 rs773152561 |
538 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM3389477 rs772207279 CA9720240 |
538 | E>D | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA9720241 rs773152561 |
538 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773152561 CA407948534 |
538 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1234462262 CA407948517 |
539 | R>L | No |
ClinGen gnomAD |
|
CA407948520 rs1234462262 |
539 | R>Q | No |
ClinGen gnomAD |
|
CA9720239 rs748231804 |
539 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1286886180 CA407948511 |
540 | P>S | No |
ClinGen gnomAD |
|
rs1405504379 CA407948490 |
541 | F>L | No |
ClinGen gnomAD |
|
rs1412056428 CA407948499 |
541 | F>V | No |
ClinGen gnomAD |
|
rs1374403450 CA407948487 |
542 | A>T | No |
ClinGen gnomAD |
|
CA407948467 rs1434536423 |
543 | C>S | No |
ClinGen gnomAD |
|
rs1434536423 CA407948469 |
543 | C>Y | No |
ClinGen gnomAD |
|
CA407948444 rs1461934076 |
545 | E>* | No |
ClinGen TOPMed gnomAD |
|
rs749614734 CA9720236 |
545 | E>A | No |
ClinGen ExAC gnomAD |
|
rs780511000 CA407948439 |
545 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407948447 rs1461934076 |
545 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs200689045 CA407948426 |
546 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs945867005 CA407948417 |
547 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA9720233 rs751000908 |
547 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407948420 rs751000908 |
547 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA310618284 rs945867005 |
547 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA407948409 rs1444968955 |
548 | Q>E | No |
ClinGen TOPMed |
|
CA407948401 rs1487272254 |
548 | Q>H | No |
ClinGen gnomAD |
|
TCGA novel | 550 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1266763065 CA407948341 |
553 | R>H | No |
ClinGen gnomAD |
|
CA407948333 rs1317898246 |
554 | S>A | No |
ClinGen TOPMed gnomAD |
|
CA9720231 rs756765711 |
555 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 557 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1452321546 CA407948291 |
557 | T>M | No |
ClinGen gnomAD |
|
rs1224028574 CA407948300 |
557 | T>P | No |
ClinGen gnomAD |
|
CA9720229 rs763797903 |
558 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1318467552 CA407948263 |
559 | H>Q | No |
ClinGen gnomAD |
|
CA407948255 rs1455247406 |
560 | R>P | No |
ClinGen TOPMed gnomAD |
|
rs1455247406 CA407948257 |
560 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs1283610346 COSM3836060 CA407948258 |
560 | R>W | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs762733442 CA9720228 |
561 | R>L | No |
ClinGen ExAC gnomAD |
|
rs775124753 CA9720227 |
562 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407948223 rs1431133879 |
563 | H>Y | No |
ClinGen gnomAD |
|
CA407948187 rs1464058025 |
566 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA407948168 rs1295672785 |
567 | R>P | No |
ClinGen TOPMed |
|
CA407948156 rs1207438243 |
569 | F>Y | No |
ClinGen gnomAD |
|
rs1486469107 CA407948145 |
570 | A>P | No |
ClinGen gnomAD |
|
rs1308711804 CA407948141 |
570 | A>V | No |
ClinGen TOPMed |
|
CA407948129 rs759387890 |
571 | C>F | No |
ClinGen ExAC gnomAD |
|
CA9720226 rs765136943 |
571 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720225 rs759387890 |
571 | C>S | No |
ClinGen ExAC gnomAD |
|
CA407948121 rs1304461313 |
572 | A>P | No |
ClinGen gnomAD |
|
rs953021399 CA310618264 |
573 | E>D | No |
ClinGen TOPMed |
|
rs1363155852 CA407948111 |
573 | E>K | No |
ClinGen gnomAD |
|
rs1362928544 CA407948035 |
576 | K>M | No |
ClinGen gnomAD |
|
CA9720222 rs770870517 |
577 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1051473897 CA310618252 |
577 | A>P | No |
ClinGen Ensembl |
|
CA407948008 rs1245951001 |
578 | F>L | No |
ClinGen TOPMed |
|
CA407947985 rs867068824 |
579 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA310618246 rs921598469 |
579 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs921598469 CA407947976 |
579 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs867068824 CA310618248 |
579 | R>S | No |
ClinGen TOPMed gnomAD |
|
rs1420342437 CA407947974 |
580 | Q>K | No |
ClinGen TOPMed |
|
CA9720220 rs774447843 |
581 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748178821 CA9720221 |
581 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768838421 CA407947931 |
582 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768838421 CA9720219 |
582 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407947938 rs1194662859 |
582 | P>S | No |
ClinGen gnomAD |
|
rs868256791 CA310618235 |
583 | T>K | No |
ClinGen Ensembl |
|
CA407947928 rs1199188907 |
583 | T>P | No |
ClinGen gnomAD |
|
CA9720215 rs377542744 |
585 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
rs546748820 CA9720214 |
586 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA310618229 rs757866907 |
586 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA310618233 rs867981151 |
586 | Q>R | No |
ClinGen gnomAD |
|
CA9720211 rs763744696 |
588 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA407947807 rs1412782959 |
588 | L>R | No |
ClinGen TOPMed gnomAD |
|
CA407947792 rs1357165162 |
589 | R>C | No |
ClinGen gnomAD |
|
rs536663646 CA407947782 |
590 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA9720210 rs536663646 CA9720209 |
590 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA407947742 rs1169205767 |
592 | T>K | No |
ClinGen gnomAD |
|
rs1462063492 CA407947704 |
594 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs928075899 CA310618219 |
595 | K>N | No |
ClinGen Ensembl |
|
CA9720207 rs551259916 |
596 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA407947670 rs1367313880 |
596 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs766265707 CA9720205 |
597 | F>L | No |
ClinGen ExAC gnomAD |
|
CA310618213 rs531104540 |
597 | F>S | No |
ClinGen 1000Genomes |
|
rs774396292 CA9720203 |
598 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1210072340 CA407947591 |
599 | C>Y | No |
ClinGen gnomAD |
|
rs1196541366 CA407947576 |
600 | P>S | No |
ClinGen gnomAD |
|
CA9720200 rs775719540 |
601 | E>D | No |
ClinGen ExAC gnomAD |
|
rs374236870 CA310618207 |
601 | E>K | No |
ClinGen gnomAD |
|
TCGA novel | 602 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1486968701 CA407947515 |
603 | G>V | No |
ClinGen TOPMed |
|
TCGA novel | 605 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9720199 rs769927733 |
606 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1408980170 CA407947431 |
607 | S>G | No |
ClinGen gnomAD |
|
CA407947434 rs1408980170 |
607 | S>R | No |
ClinGen gnomAD |
|
CA407947429 rs1333711025 |
607 | S>T | No |
ClinGen gnomAD |
|
rs1330481305 CA407947394 |
609 | R>C | No |
ClinGen gnomAD |
|
CA310618204 rs551541266 |
610 | L>F | No |
ClinGen 1000Genomes |
|
CA407947379 rs1600095455 |
610 | L>P | No |
ClinGen Ensembl |
|
TCGA novel | 610 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs771540653 CA9720194 |
612 | L>F | No |
ClinGen ExAC TOPMed |
|
rs1346668109 CA407947346 |
612 | L>R | No |
ClinGen TOPMed |
|
rs771540653 CA407947355 |
612 | L>V | No |
ClinGen ExAC TOPMed |
|
rs747576578 CA9720193 |
613 | T>R | No |
ClinGen ExAC gnomAD |
|
CA407947338 rs1433839097 |
613 | T>S | No |
ClinGen TOPMed |
|
CA9720192 rs777417118 |
614 | R>H | No |
ClinGen ExAC gnomAD |
|
rs147818011 CA9720190 |
615 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9720188 rs754620221 |
615 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720189 rs147818011 |
615 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs753601459 CA9720187 |
616 | Q>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 617 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA407947285 rs1215635003 |
617 | R>G | No |
ClinGen gnomAD |
|
CA407947254 rs1224194823 |
618 | T>A | No |
ClinGen TOPMed |
|
rs1600095365 CA407947249 |
618 | T>K | No |
ClinGen Ensembl |
|
CA9720185 rs201824464 |
620 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1227642967 CA407947208 |
620 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA9720184 rs539910022 |
621 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9720182 rs763037312 |
622 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373694789 CA9720181 |
623 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9720179 rs759724567 |
624 | P>S | No |
ClinGen ExAC gnomAD |
|
rs777121998 CA9720177 |
626 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs1320477604 CA407947083 |
626 | H>R | No |
ClinGen gnomAD |
|
rs944207806 CA310618143 |
627 | C>W | No |
ClinGen TOPMed gnomAD |
|
rs1159482628 CA407947040 |
628 | G>S | No |
ClinGen gnomAD |
|
CA407947014 rs1568674618 |
629 | E>A | No |
ClinGen Ensembl |
|
TCGA novel | 631 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1032792244 CA310618140 |
631 | G>S | No |
ClinGen TOPMed |
|
CA310618138 rs1000873365 |
633 | G>C | No |
ClinGen TOPMed |
|
CA407946946 rs1000873365 |
633 | G>S | No |
ClinGen TOPMed |
|
CA9720174 rs150630080 |
635 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs921566699 CA310618130 |
636 | Q>H | No |
ClinGen TOPMed |
|
CA9720173 rs772478991 |
636 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 637 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1600095200 CA407946877 |
637 | V>G | No |
ClinGen Ensembl |
|
CA407946885 rs1335157664 |
637 | V>I | No |
ClinGen TOPMed |
|
rs1020145886 CA310618125 |
639 | R>Q | No |
ClinGen gnomAD |
|
rs778328394 CA9720171 |
639 | R>W | No |
ClinGen ExAC gnomAD |
|
CA9720169 rs749002171 |
641 | T>I | No |
ClinGen ExAC gnomAD |
|
CA9720167 rs115386056 |
642 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA407946806 rs1452287602 |
643 | H>Q | No |
ClinGen Ensembl |
|
CA407946813 rs1429295811 |
643 | H>Y | No |
ClinGen TOPMed gnomAD |
|
rs1568674438 CA407946791 |
644 | Q>H | No |
ClinGen Ensembl |
|
CA310618101 rs200245594 |
644 | Q>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA9720165 rs750237323 |
645 | R>L | No |
ClinGen ExAC gnomAD |
|
rs575997059 CA407946765 |
646 | I>M | No |
ClinGen TOPMed gnomAD |
|
CA407946763 rs1270958581 |
647 | H>D | No |
ClinGen TOPMed |
|
CA407946760 rs1270958581 |
647 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1263961330 CA407946743 |
648 | T>R | No |
ClinGen gnomAD |
|
rs757179039 CA9720163 |
649 | G>D | No |
ClinGen ExAC gnomAD |
|
rs575595806 CA310618084 |
649 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA407946728 rs1234993858 |
650 | E>* | No |
ClinGen TOPMed |
|
rs201221836 CA9720161 |
651 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA407946711 rs1474423555 |
651 | R>W | No |
ClinGen gnomAD |
|
rs1385548824 CA407946691 |
652 | P>L | No |
ClinGen TOPMed |
|
rs759799575 CA407946643 |
655 | C>G | No |
ClinGen ExAC |
|
rs759799575 CA9720160 |
655 | C>R | No |
ClinGen ExAC |
|
rs148499782 CA9720158 |
655 | C>S | No |
ClinGen ESP ExAC |
|
rs148499782 CA9720159 |
655 | C>Y | No |
ClinGen ESP ExAC |
|
CA407946625 rs1485224095 |
656 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA9720157 rs146313965 |
657 | E>D | No |
ClinGen ESP ExAC |
|
CA9720156 rs142226130 |
658 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
rs374723544 CA407946560 |
659 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs374723544 CA9720154 |
659 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs768999008 CA9720155 |
659 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407946549 rs1212285327 |
660 | Q>* | No |
ClinGen gnomAD |
|
CA9720153 rs773922361 |
663 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs767981017 CA9720152 |
664 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407946457 rs1233234104 |
665 | H>Q | No |
ClinGen TOPMed gnomAD |
|
CA407946464 rs1435617989 |
665 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs748787893 CA9720150 |
666 | A>G | No |
ClinGen ExAC gnomAD |
|
rs1370182069 CA407946449 |
666 | A>S | No |
ClinGen gnomAD |
|
CA407946428 rs1411742559 |
667 | N>S | No |
ClinGen gnomAD |
|
rs572915012 CA9720149 |
669 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs755736289 CA407946387 |
669 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755736289 CA9720148 |
669 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs553441367 CA310618053 |
670 | Q>E | No |
ClinGen 1000Genomes |
|
CA9720147 rs745697638 |
671 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720146 rs757233680 |
671 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA310618049 rs745697638 |
671 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407946311 rs1201926384 |
672 | R>L | No |
ClinGen gnomAD |
|
CA407946316 rs1201926384 |
672 | R>Q | No |
ClinGen gnomAD |
|
CA9720144 rs375549388 |
672 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs900246136 CA310618038 |
673 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs375748545 CA9720142 |
673 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9720141 rs755167458 |
676 | T>M | No |
ClinGen ExAC gnomAD |
|
rs1037796858 CA310618033 |
677 | G>D | No |
ClinGen Ensembl |
|
rs1372019119 CA407946214 |
677 | G>S | No |
ClinGen TOPMed |
|
rs202068188 CA9720137 |
681 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA310618028 rs181482460 |
681 | Y>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs1469219256 CA407946113 |
681 | Y>H | No |
ClinGen TOPMed |
|
rs374564603 CA9720136 |
682 | A>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
rs1475416986 CA407946034 |
684 | P>A | No |
ClinGen gnomAD |
|
CA9720134 rs762382995 |
684 | P>L | No |
ClinGen ExAC gnomAD |
|
CA310618018 COSM1002792 rs756827802 |
685 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
CA9720133 rs756827802 |
685 | E>Q | No |
ClinGen ExAC |
|
rs1481398549 CA407945978 |
686 | C>Y | No |
ClinGen gnomAD |
|
rs769188539 CA407945945 |
687 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720131 rs769188539 |
687 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA407945954 rs1232993943 |
687 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1232993943 CA407945958 |
687 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs748840906 CA9720130 |
689 | A>T | No |
ClinGen ExAC |
|
CA407945861 rs1316729859 |
691 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs1316729859 CA407945862 |
691 | R>G | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 692 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9720128 rs769461846 |
692 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA407945778 rs745467813 |
693 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720127 rs745467813 |
693 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407945783 rs745467813 |
693 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1223356883 CA407945800 |
693 | R>W | No |
ClinGen TOPMed |
|
rs1027379423 CA310618000 |
695 | T>K | No |
ClinGen TOPMed gnomAD |
|
rs1327883861 CA407945661 |
696 | L>I | No |
ClinGen gnomAD |
|
CA9720124 rs746806690 |
696 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9720123 rs777620031 |
699 | H>D | No |
ClinGen ExAC gnomAD |
|
CA407945578 rs777620031 |
699 | H>N | No |
ClinGen ExAC gnomAD |
|
rs200374765 CA310617991 |
699 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs1266082755 CA407945498 |
700 | L>R | No |
ClinGen TOPMed |
|
CA9720122 rs758378675 |
701 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA407945472 rs1452035994 |
702 | T>P | No |
ClinGen gnomAD |
|
CA9720121 rs754001439 |
703 | H>D | No |
ClinGen ExAC gnomAD |
|
CA407945458 rs754001439 |
703 | H>N | No |
ClinGen ExAC gnomAD |
|
rs146120851 CA9720120 |
703 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA407945427 rs1431190035 |
704 | R>* | No |
ClinGen TOPMed |
|
CA9720119 rs149604450 |
704 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA407945394 rs138274172 |
705 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA407945376 rs1384596349 |
705 | R>Q | No |
ClinGen TOPMed |
|
CA9720117 rs551628942 |
706 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201352824 CA9720116 |
707 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1020888598 CA310617975 |
708 | P>A | No |
ClinGen gnomAD |
|
rs751926237 CA9720115 |
709 | F>V | No |
ClinGen ExAC gnomAD |
|
rs1384157858 CA407945209 |
710 | A>D | No |
ClinGen gnomAD |
|
CA310617970 rs950894425 |
710 | A>P | No |
ClinGen gnomAD |
|
CA9720114 rs764621385 |
712 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1455165967 CA407945120 |
713 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA407945093 rs1373120490 |
714 | C>Y | No |
ClinGen gnomAD |
|
rs1284536763 CA407945043 |
716 | R>C | No |
ClinGen TOPMed |
|
CA9720113 rs150107156 |
717 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1432428963 CA407945016 |
717 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA407945000 rs1396411352 |
718 | F>L | No |
ClinGen gnomAD |
|
rs1401224369 CA407944989 |
719 | H>Q | No |
ClinGen gnomAD |
|
COSM1397355 CA407944992 rs1449324879 |
719 | H>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA9720112 rs200117940 |
720 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1600094472 CA407944977 |
720 | Q>R | No |
ClinGen Ensembl |
|
CA310617948 rs891264501 |
721 | S>N | No |
ClinGen TOPMed |
|
CA407944960 rs1428508818 |
721 | S>R | No |
ClinGen gnomAD |
|
rs868632915 CA407944956 |
722 | T>A | No |
ClinGen gnomAD |
|
rs868632915 CA310617945 |
722 | T>P | No |
ClinGen gnomAD |
|
CA407944939 rs1188742035 |
723 | K>R | No |
ClinGen gnomAD |
|
CA9720111 rs769228941 |
725 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1568673478 CA407944855 |
727 | H>R | No |
ClinGen Ensembl |
|
rs759082568 CA9720110 |
730 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs932864324 CA310617939 |
732 | S>R | No |
ClinGen TOPMed gnomAD |
|
rs954594385 CA310617935 |
733 | A>S | No |
ClinGen TOPMed |
|
CA407944738 rs1281212976 |
733 | A>V | No |
ClinGen gnomAD |
|
CA310617931 rs377592261 |
734 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
CA407944706 rs1180839605 |
735 | E>E | No |
ClinGen TOPMed |
No associated diseases with P28698
1 regional properties for P28698
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Proteasome alpha-subunit, N-terminal domain | 5 - 27 | IPR000426 |
1 GO annotations of cellular component
Name | Definition |
---|---|
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
8 GO annotations of molecular function
Name | Definition |
---|---|
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 | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
DNA-binding transcription 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. |
DNA-binding transcription repressor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II. |
metal ion binding | Binding to a metal ion. |
protein homodimerization activity | Binding to an identical protein to form a homodimer. |
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. |
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. |
3 GO annotations of biological process
Name | Definition |
---|---|
negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
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 |
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 |
P08151 | GLI1 | Zinc finger protein GLI1 | Homo sapiens (Human) | PR |
Q9UFB7 | ZBTB47 | Zinc finger and BTB domain-containing protein 47 | Homo sapiens (Human) | PR |
P18146 | EGR1 | Early growth response protein 1 | Homo sapiens (Human) | PR |
Q9Y5W3 | KLF2 | Krueppel-like factor 2 | Homo sapiens (Human) | PR |
Q9UNY5 | ZNF232 | Zinc finger protein 232 | Homo sapiens (Human) | PR |
Q96SZ4 | ZSCAN10 | Zinc finger and SCAN domain-containing protein 10 | Homo sapiens (Human) | PR |
P17028 | ZNF24 | Zinc finger protein 24 | Homo sapiens (Human) | PR |
P57682 | KLF3 | Krueppel-like factor 3 | Homo sapiens (Human) | PR |
P25490 | YY1 | Transcriptional repressor protein YY1 | Homo sapiens (Human) | SS |
O43296 | ZNF264 | Zinc finger protein 264 | Homo sapiens (Human) | PR |
P49711 | CTCF | Transcriptional repressor CTCF | Homo sapiens (Human) | PR |
Q9NQX1 | PRDM5 | PR domain zinc finger protein 5 | Homo sapiens (Human) | PR |
Q9HBE1 | PATZ1 | POZ-, AT hook-, and zinc finger-containing protein 1 | Homo sapiens (Human) | PR |
Q8TAX0 | OSR1 | Protein odd-skipped-related 1 | Homo sapiens (Human) | PR |
Q9UL58 | ZNF215 | Zinc finger protein 215 | Homo sapiens (Human) | PR |
Q8TBJ5 | FEZF2 | Fez family zinc finger protein 2 | Homo sapiens (Human) | PR |
Q96SR6 | ZNF382 | Zinc finger protein 382 | Homo sapiens (Human) | PR |
Q96IT1 | ZNF496 | Zinc finger protein 496 | Homo sapiens (Human) | PR |
Q96N95 | ZNF396 | Zinc finger protein 396 | Homo sapiens (Human) | PR |
Q9ULJ3 | ZBTB21 | Zinc finger and BTB domain-containing protein 21 | Homo sapiens (Human) | PR |
O75840 | KLF7 | Krueppel-like factor 7 | Homo sapiens (Human) | PR |
Q9H9D4 | ZNF408 | Zinc finger protein 408 | Homo sapiens (Human) | PR |
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 |
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 |
O95125 | ZNF202 | Zinc finger protein 202 | Homo sapiens (Human) | PR |
Q05516 | ZBTB16 | Zinc finger and BTB domain-containing protein 16 | Homo sapiens (Human) | PR |
Q8N0Y2 | ZNF444 | Zinc finger protein 444 | Homo sapiens (Human) | PR |
Q6P9G9 | ZNF449 | Zinc finger protein 449 | 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 |
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 |
Q86YH2 | ZNF280B | Zinc finger protein 280B | Homo sapiens (Human) | PR |
Q53GI3 | ZNF394 | Zinc finger protein 394 | Homo sapiens (Human) | PR |
O95625 | ZBTB11 | Zinc finger and BTB domain-containing protein 11 | Homo sapiens (Human) | PR |
Q9H116 | GZF1 | GDNF-inducible zinc finger protein 1 | Homo sapiens (Human) | PR |
Q8IW36 | ZNF695 | Zinc finger protein 695 | Homo sapiens (Human) | PR |
Q96N38 | ZNF714 | Zinc finger protein 714 | Homo sapiens (Human) | PR |
Q8N859 | ZNF713 | Zinc finger protein 713 | 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 |
MRPAVLGSPD | RAPPEDEGPV | MVKLEDSEEE | GEAALWDPGP | EAARLRFRCF | RYEEATGPQE |
70 | 80 | 90 | 100 | 110 | 120 |
ALAQLRELCR | QWLRPEVRSK | EQMLELLVLE | QFLGALPPEI | QARVQGQRPG | SPEEAAALVD |
130 | 140 | 150 | 160 | 170 | 180 |
GLRREPGGPR | RWVTVQVQGQ | EVLSEKMEPS | SFQPLPETEP | PTPEPGPKTP | PRTMQESPLG |
190 | 200 | 210 | 220 | 230 | 240 |
LQVKEESEVT | EDSDFLESGP | LAATQESVPT | LLPEEAQRCG | TVLDQIFPHS | KTGPEGPSWR |
250 | 260 | 270 | 280 | 290 | 300 |
EHPRALWHEE | AGGIFSPGFA | LQLGSISAGP | GSVSPHLHVP | WDLGMAGLSG | QIQSPSREGG |
310 | 320 | 330 | 340 | 350 | 360 |
FAHALLLPSD | LRSEQDPTDE | DPCRGVGPAL | ITTRWRSPRG | RSRGRPSTGG | GVVRGGRCDV |
370 | 380 | 390 | 400 | 410 | 420 |
CGKVFSQRSN | LLRHQKIHTG | ERPFVCSECG | RSFSRSSHLL | RHQLTHTEER | PFVCGDCGQG |
430 | 440 | 450 | 460 | 470 | 480 |
FVRSARLEEH | RRVHTGEQPF | RCAECGQSFR | QRSNLLQHQR | IHGDPPGPGA | KPPAPPGAPE |
490 | 500 | 510 | 520 | 530 | 540 |
PPGPFPCSEC | RESFARRAVL | LEHQAVHTGD | KSFGCVECGE | RFGRRSVLLQ | HRRVHSGERP |
550 | 560 | 570 | 580 | 590 | 600 |
FACAECGQSF | RQRSNLTQHR | RIHTGERPFA | CAECGKAFRQ | RPTLTQHLRV | HTGEKPFACP |
610 | 620 | 630 | 640 | 650 | 660 |
ECGQRFSQRL | KLTRHQRTHT | GEKPYHCGEC | GLGFTQVSRL | TEHQRIHTGE | RPFACPECGQ |
670 | 680 | 690 | 700 | 710 | 720 |
SFRQHANLTQ | HRRIHTGERP | YACPECGKAF | RQRPTLTQHL | RTHRREKPFA | CQDCGRRFHQ |
730 | |||||
STKLIQHQRV | HSAE |