Q8NDB2
PR
Gene name |
BANK1 |
Protein name |
B-cell scaffold protein with ankyrin repeats |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55024 |
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
1 structures for Q8NDB2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8NDB2-F1 | Predicted | AlphaFoldDB |
672 variants for Q8NDB2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000758191 CA3024737 COSM732104 rs35978636 |
40 | W>C | lung Systemic lupus erythematosus [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_027729 CA210675 rs10516487 RCV000001331 |
61 | R>H | Association with systemic lupus erythematosus may influence susceptibility to SLE [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA357951593 rs1479539678 |
2 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 3 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3024702 rs761494451 |
4 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA357951612 rs1186752487 |
5 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1168912545 CA357951630 |
8 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA3024703 rs766984744 |
9 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343102609 CA357951639 |
10 | L>F | No |
ClinGen gnomAD |
|
|
rs1348900145 CA357951650 |
12 | S>R | No |
ClinGen TOPMed |
|
|
CA357951663 rs1342122250 |
13 | P>L | No |
ClinGen gnomAD |
|
|
CA357951662 rs1342122250 |
13 | P>R | No |
ClinGen gnomAD |
|
|
CA357951660 rs1454848997 |
13 | P>S | No |
ClinGen gnomAD |
|
|
CA357951665 rs1212632402 |
14 | D>H | No |
ClinGen gnomAD |
|
|
CA357951674 rs1322190905 |
15 | P>S | No |
ClinGen gnomAD |
|
|
CA357951679 rs1237814787 |
16 | A>P | No |
ClinGen TOPMed |
|
|
CA3024709 rs753194099 |
17 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA103056633 rs753194099 |
17 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3024708 rs753194099 |
17 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3024710 rs778255689 |
18 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357951689 rs1476590029 |
18 | C>Y | No |
ClinGen gnomAD |
|
|
CA357951695 rs908389246 |
19 | G>C | No |
ClinGen gnomAD |
|
|
CA103056635 rs908389246 |
19 | G>S | No |
ClinGen gnomAD |
|
|
CA103056636 rs200877584 |
19 | G>V | No |
ClinGen 1000Genomes |
|
|
rs751781639 CA3024712 |
21 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424839013 CA357951706 |
21 | A>P | No |
ClinGen gnomAD |
|
|
rs751781639 CA357951708 |
21 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA103056638 rs921216775 |
23 | P>A | No |
ClinGen Ensembl |
|
|
CA357951717 rs781234477 |
23 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3024714 rs781234477 |
23 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA103060854 rs947690691 |
24 | G>E | No |
ClinGen Ensembl |
|
|
CA357951745 rs1352974185 |
26 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3024727 rs753300629 |
27 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3024729 rs149847841 |
28 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149847841 CA3024730 |
28 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763534941 CA3024728 |
28 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206042865 CA357951764 |
29 | I>V | No |
ClinGen gnomAD |
|
|
rs1241824662 CA357951775 |
30 | I>M | No |
ClinGen gnomAD |
|
|
CA357951770 rs1326196762 |
30 | I>V | No |
ClinGen TOPMed |
|
|
CA3024731 rs757498875 |
31 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3024732 rs781491780 |
32 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750598190 CA3024734 |
33 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3024733 rs750598190 |
33 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1578341895 CA357951791 |
33 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 36 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780077100 CA3024735 |
37 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs186402440 CA3024736 |
39 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3024739 rs747977611 |
45 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142893664 CA3024741 |
47 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142893664 CA103060855 |
47 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1372283833 CA357951896 |
48 | F>Y | No |
ClinGen TOPMed |
|
|
CA3024742 rs746650837 |
50 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs148782653 CA3024744 |
51 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3024743 rs144338977 |
51 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3024745 rs539796929 |
53 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3024746 rs764669736 |
55 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs747436235 CA103060856 |
56 | A>S | No |
ClinGen Ensembl |
|
|
CA357951948 rs1261611458 |
56 | A>V | No |
ClinGen gnomAD |
|
|
rs774664939 CA3024747 |
58 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs904583980 CA103060857 |
59 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs146402279 CA3024749 |
60 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146402279 CA3024748 |
60 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146402279 CA3024750 |
60 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3024751 rs769134760 |
61 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769134760 CA357951972 |
61 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3024752 rs10516487 |
61 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1246798635 CA357951979 |
62 | L>F | No |
ClinGen gnomAD |
|
|
rs1194585813 CA357951976 |
62 | L>W | No |
ClinGen TOPMed |
|
|
CA103060859 rs899831882 |
63 | E>K | No |
ClinGen TOPMed |
|
|
rs754982560 CA3024753 |
64 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3024755 rs369642143 |
68 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369642143 CA3024754 COSM1245943 |
68 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA357952018 rs1428281031 |
68 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758276631 CA3024756 |
69 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439581526 CA357952037 |
71 | E>A | No |
ClinGen TOPMed |
|
|
CA3024757 rs777396400 |
73 | L>P | No |
ClinGen ExAC |
|
|
CA3024759 rs770741399 |
74 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs140410485 CA3024761 |
76 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140410485 CA357952070 |
76 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140410485 CA3024760 |
76 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3024764 rs762195801 |
77 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357952120 rs1234682500 |
83 | L>F | No |
ClinGen TOPMed |
|
|
rs773587809 CA3024767 |
84 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA3024768 rs138058115 |
85 | L>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 86 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs555860024 CA3024770 |
87 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs555860024 CA3024771 |
87 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA103060862 rs573753024 |
87 | N>S | No |
ClinGen 1000Genomes |
|
|
rs1490703858 CA357952150 |
88 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3024772 rs149507674 |
89 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3024774 rs367693182 |
91 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357952177 rs1195138027 |
93 | L>I | No |
ClinGen gnomAD |
|
|
CA357952191 rs1371146883 |
95 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280482723 CA357952200 COSM1049536 |
96 | K>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA357952211 rs1560591484 |
98 | C>R | No |
ClinGen Ensembl |
|
|
CA3024776 rs746808122 |
98 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1366244081 CA357952223 |
99 | Q>H | No |
ClinGen gnomAD |
|
|
CA3024777 rs559179236 |
100 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3024778 rs781051653 |
101 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs376032654 CA3024779 |
103 | K>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA357952252 rs1578342176 |
104 | I>V | No |
ClinGen Ensembl |
|
|
CA357952262 rs1233103478 |
105 | L>R | No |
ClinGen TOPMed |
|
|
rs1383002821 CA357952277 |
108 | P>T | No |
ClinGen gnomAD |
|
|
rs369391063 CA357952283 |
109 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3024780 rs369391063 |
109 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 110 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 113 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 113 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 114 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3024781 rs779410032 |
116 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3024783 rs772486940 |
120 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 121 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA103060863 rs925089937 |
123 | Q>R | No |
ClinGen TOPMed |
|
|
CA357952397 rs1290568544 |
125 | Y>* | No |
ClinGen gnomAD |
|
|
CA357952394 rs1243228260 |
125 | Y>C | No |
ClinGen gnomAD |
|
|
rs1488382055 CA357952403 |
126 | E>V | No |
ClinGen gnomAD |
|
|
CA357952424 rs1416451528 |
129 | N>K | No |
ClinGen TOPMed |
|
|
rs1560591595 CA357952426 |
130 | I>L | No |
ClinGen Ensembl |
|
|
CA3024787 rs776902535 |
132 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 133 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357952458 rs1387081923 |
134 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1446505893 CA357952460 |
134 | R>S | No |
ClinGen gnomAD |
|
|
CA357952464 rs1420557038 |
135 | W>* | No |
ClinGen TOPMed |
|
|
rs1161685898 CA357952476 |
136 | E>D | No |
ClinGen gnomAD |
|
|
CA357952483 rs1454465688 |
137 | I>M | No |
ClinGen gnomAD |
|
|
CA3024788 rs759641490 |
137 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3024790 rs765404262 |
138 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA357952527 rs1238603548 |
144 | E>* | No |
ClinGen TOPMed |
|
|
CA357952538 rs1190673684 |
145 | D>V | No |
ClinGen TOPMed |
|
|
CA357952560 rs1578342303 |
148 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 149 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451117916 CA357952562 |
149 | V>I | No |
ClinGen gnomAD |
|
|
rs1240712190 CA357952588 |
152 | S>N | No |
ClinGen gnomAD |
|
|
rs1051013211 CA103060865 |
152 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA357952594 rs1289474438 |
153 | I>T | No |
ClinGen Ensembl |
|
|
CA3024796 rs751530471 |
153 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3024797 rs757187931 |
155 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA357952611 rs1200879981 |
156 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA357952618 rs1244758982 |
157 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA357954855 rs1244213025 |
161 | Y>H | No |
ClinGen gnomAD |
|
|
CA3024834 rs138605463 |
162 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357954870 rs1176326050 |
163 | E>* | No |
ClinGen gnomAD |
|
|
CA357954877 rs1463989362 |
164 | V>F | No |
ClinGen gnomAD |
|
|
CA103063665 rs572526879 |
166 | I>T | No |
ClinGen Ensembl |
|
|
CA3024835 rs779584310 |
167 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551900572 CA3024837 |
168 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357954908 rs1284857589 |
169 | D>Y | No |
ClinGen gnomAD |
|
|
rs1226890968 CA357954915 |
170 | L>V | No |
ClinGen TOPMed |
|
|
CA3024839 rs187331023 |
171 | R>* | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3024840 rs372497686 |
171 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357954946 rs1433680837 |
174 | H>Q | No |
ClinGen TOPMed |
|
|
rs1317897123 CA357954940 |
174 | H>R | No |
ClinGen TOPMed |
|
|
rs746235537 CA3024842 |
174 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3024843 rs770184787 |
177 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1481954911 CA357954995 |
178 | I>L | No |
ClinGen gnomAD |
|
|
rs200127706 CA3024844 |
178 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271399517 CA357955010 |
179 | S>G | No |
ClinGen gnomAD |
|
|
CA357955020 rs1479651789 |
179 | S>I | No |
ClinGen gnomAD |
|
|
rs749496262 CA3024845 |
180 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA3024847 rs774595865 |
183 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs375817514 CA3024848 |
184 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751620950 CA103063666 |
184 | I>V | No |
ClinGen Ensembl |
|
|
CA357955135 rs1403258433 |
187 | L>P | No |
ClinGen TOPMed |
|
|
CA357955221 rs1413440032 |
193 | N>S | No |
ClinGen TOPMed |
|
|
CA3024852 rs766189263 |
195 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs62321727 CA103063667 |
196 | P>S | No |
ClinGen Ensembl |
|
|
rs1388835597 CA357955253 |
197 | L>I | No |
ClinGen TOPMed |
|
|
CA3024854 rs754599173 |
198 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs550818534 CA3024855 |
199 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 200 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3024857 rs757849879 |
203 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs749490905 CA3024859 |
205 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs752211558 CA103063668 |
208 | E>D | No |
ClinGen Ensembl |
|
|
CA3024881 rs113701918 |
209 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA103064436 rs1047997541 |
211 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA357955357 rs1472199600 |
212 | E>K | Variant assessed as Somatic; 4.657e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 213 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755335462 CA3024883 |
214 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA3024882 rs28485258 |
214 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779333045 CA3024884 |
215 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3024885 rs748375723 |
218 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA357955410 rs1406575130 |
219 | D>E | No |
ClinGen gnomAD |
|
|
CA3024886 rs377147083 |
220 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3024887 rs777884224 |
223 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 223 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486010994 CA357955437 |
224 | D>N | No |
ClinGen TOPMed |
|
|
rs370780104 CA3024888 |
225 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA103064437 rs1008286164 |
226 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA357955509 rs1294460649 |
234 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3024892 rs769575241 |
236 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777895274 CA3024893 |
236 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777895274 CA357955524 |
236 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199571267 CA3024894 |
237 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA103064438 rs746343385 |
238 | R>G | No |
ClinGen Ensembl |
|
|
CA357955545 rs559837155 |
240 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3024896 rs559837155 |
240 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141602182 CA3024895 |
240 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357955552 rs1455450988 |
242 | A>T | No |
ClinGen TOPMed |
|
|
rs1387738195 CA357955557 |
242 | A>V | No |
ClinGen TOPMed |
|
|
rs998626392 CA103064439 |
243 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs766921239 CA357955593 CA3024898 |
244 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA103064441 CA103064440 rs1032174882 |
245 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 246 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA103064442 rs957889929 |
248 | V>G | No |
ClinGen gnomAD |
|
|
CA3024900 rs368732231 |
249 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3024899 rs754381665 |
249 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1198673746 CA357955721 |
250 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753013994 CA3024902 |
251 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771145465 CA3024901 |
251 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs866352013 CA103064443 |
252 | K>N | No |
ClinGen gnomAD |
|
|
CA357955786 rs1440240050 |
253 | A>V | No |
ClinGen gnomAD |
|
|
CA103064444 rs1020905403 |
255 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs764438579 CA357951267 |
255 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764438579 CA3024924 |
255 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866875647 CA103065248 |
257 | P>S | No |
ClinGen Ensembl |
|
|
CA3024925 rs751728659 |
263 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs757403063 COSM200110 CA3024926 |
264 | N>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs895230542 CA103065249 |
264 | N>S | No |
ClinGen TOPMed |
|
|
CA3024927 rs150903005 |
266 | Y>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1385971454 CA357951332 |
266 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA357951335 rs150903005 |
266 | Y>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs745900171 CA3024928 |
268 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs201930891 CA3024930 |
270 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs532683237 CA3024929 |
270 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3024932 rs145555039 |
271 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1304366945 CA357951371 |
272 | K>E | No |
ClinGen gnomAD |
|
|
rs774117619 CA3024933 |
273 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs747724705 CA3024934 |
274 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243279647 CA357951393 |
275 | T>I | No |
ClinGen gnomAD |
|
|
rs771756981 CA3024935 |
276 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370508926 CA103065250 |
276 | K>T | No |
ClinGen Ensembl |
|
| TCGA novel | 277 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299714609 CA357951401 |
277 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 277 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351109399 CA357951411 |
278 | K>R | No |
ClinGen gnomAD |
|
|
CA357951432 rs1206740818 |
281 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1281885979 CA357951436 |
281 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 281 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357951433 rs1206740818 |
281 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3024936 rs772867607 |
283 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3024937 rs760219196 |
284 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3024938 rs765841733 |
285 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446575198 CA357951464 |
286 | K>R | No |
ClinGen gnomAD |
|
|
rs1185676065 CA357951470 |
287 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 287 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776078480 CA3024939 |
287 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375496491 CA357951503 |
292 | M>V | No |
ClinGen TOPMed |
|
|
CA357951512 rs1386936131 |
293 | A>T | No |
ClinGen gnomAD |
|
|
rs1230787600 CA357951516 |
293 | A>V | No |
ClinGen gnomAD |
|
|
CA3024941 rs764337054 |
295 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1197710894 CA357951527 |
295 | S>P | No |
ClinGen TOPMed |
|
|
CA3024943 rs73836621 |
300 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1286187474 CA357951573 |
301 | Q>H | No |
ClinGen gnomAD |
|
|
CA357951570 rs1240757331 |
301 | Q>P | No |
ClinGen gnomAD |
|
|
rs144703386 CA3024958 |
303 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3024959 rs62321738 CA103067902 |
303 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3024962 rs200813645 |
304 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148927864 CA3024961 |
304 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3024963 rs750631627 |
306 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760810831 CA3024964 |
308 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA103067903 rs769906672 |
308 | D>N | No |
ClinGen Ensembl |
|
|
CA357953203 rs1455527688 |
309 | G>D | No |
ClinGen TOPMed |
|
|
rs116329129 CA3024965 |
310 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357953214 rs1200510684 |
310 | V>L | No |
ClinGen gnomAD |
|
|
rs778866297 CA3024968 |
312 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746632394 CA3024972 |
314 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440682491 CA357953271 |
314 | I>T | No |
ClinGen TOPMed |
|
|
CA3024971 rs777623135 |
314 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3024973 rs200699925 |
315 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3024974 rs140868220 |
316 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3024975 rs745347531 |
317 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159025076 CA357953319 |
318 | E>G | No |
ClinGen gnomAD |
|
|
rs144793939 CA3024977 |
319 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3024976 rs200190290 |
319 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357953359 rs762224126 |
320 | P>L | No |
ClinGen ExAC |
|
|
CA3024978 rs762224126 |
320 | P>R | No |
ClinGen ExAC |
|
|
CA357953352 rs1230786457 |
320 | P>T | No |
ClinGen gnomAD |
|
|
CA3024980 rs529593590 |
321 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1029204434 CA103067904 |
326 | S>C | No |
ClinGen TOPMed |
|
|
rs1029204434 CA357953460 |
326 | S>F | No |
ClinGen TOPMed |
|
|
rs1487740314 CA357953545 |
330 | E>A | No |
ClinGen gnomAD |
|
|
CA103067905 rs892980688 |
331 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA357953597 rs1430814537 |
333 | S>C | No |
ClinGen gnomAD |
|
|
CA357953622 rs766540578 |
335 | N>K | No |
ClinGen Ensembl |
|
|
CA357955602 rs1363776672 |
337 | Y>* | No |
ClinGen TOPMed |
|
|
rs1386557084 CA357953675 |
337 | Y>D | No |
ClinGen TOPMed |
|
|
rs1386557084 CA357953673 |
337 | Y>H | No |
ClinGen TOPMed |
|
|
CA3024998 rs772472264 |
338 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs773587818 CA3024999 |
339 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA357955718 rs1213771996 |
342 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA357955740 rs1245831913 |
343 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 343 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3025001 rs747333930 |
344 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3025002 rs747333930 |
344 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs370190414 CA3025004 |
345 | T>A | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
| TCGA novel | 347 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3025005 COSM585328 rs532040143 |
349 | C>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA357955843 rs1286036351 |
349 | C>R | No |
ClinGen gnomAD |
|
|
CA357955849 rs532040143 |
349 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357955871 rs1337372347 |
350 | A>T | No |
ClinGen TOPMed |
|
|
CA3025006 rs775620263 |
350 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3025007 rs141670623 |
351 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202072903 CA103070468 |
352 | K>E | No |
ClinGen 1000Genomes |
|
|
CA103070469 rs914508250 |
353 | F>V | No |
ClinGen TOPMed |
|
|
rs1372627630 CA357955932 |
354 | G>D | No |
ClinGen TOPMed |
|
|
CA3025008 rs764086576 |
355 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354703233 CA357955963 |
356 | K>N | No |
ClinGen TOPMed |
|
|
CA357955959 rs1461374621 |
356 | K>R | No |
ClinGen gnomAD |
|
|
CA357955968 rs1578397877 |
357 | N>D | No |
ClinGen Ensembl |
|
|
rs1235253825 CA357956012 |
360 | I>V | No |
ClinGen gnomAD |
|
|
CA3025010 rs757018667 |
361 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs767134135 CA3025011 |
362 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA3025012 rs750087209 |
365 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs145346276 CA3025013 |
366 | S>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA103070473 rs765712834 |
366 | S>P | No |
ClinGen Ensembl |
|
|
rs748746845 CA3025015 |
371 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3025017 rs141258374 |
372 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357956221 rs1193029424 |
373 | K>E | No |
ClinGen TOPMed |
|
|
CA357956246 rs1481097757 |
374 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1352698387 CA357956239 |
374 | M>K | No |
ClinGen gnomAD |
|
|
CA3025019 rs771310927 |
374 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA103070475 rs184559529 |
377 | M>I | No |
ClinGen 1000Genomes |
|
|
CA3025020 rs776782078 |
377 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 378 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357956330 rs1324820144 |
379 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3025022 rs375539186 |
380 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3025023 rs375539186 |
380 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3025025 rs763064565 |
381 | D>A | No |
ClinGen ExAC |
|
|
rs3733197 VAR_027730 CA3025027 |
383 | A>T | may influence susceptibility to SLE [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3025028 rs761582440 |
383 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3025029 rs767315450 |
384 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357956369 rs1218093161 |
384 | H>Y | No |
ClinGen TOPMed |
|
|
CA3025030 rs149460925 |
386 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3025031 rs755812345 |
387 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3025032 rs189221864 |
388 | R>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA103070479 rs1006459366 |
389 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3025033 rs753349659 |
390 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs546991706 CA3025034 COSM1426127 |
393 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs778307020 CA3025035 |
395 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs200345214 CA357956469 |
398 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA103070483 rs757599561 |
399 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3025037 rs757599561 |
399 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201960198 CA3025039 |
400 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 401 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA103070484 rs553979685 |
402 | S>L | No |
ClinGen Ensembl |
|
|
CA3025056 rs759110466 |
403 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1386964601 CA357952654 |
406 | I>V | No |
ClinGen TOPMed |
|
|
rs1015159191 CA103081728 |
407 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs764692819 CA3025057 |
408 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA103081729 rs961042200 |
411 | E>K | No |
ClinGen Ensembl |
|
|
rs1420311191 CA357952707 |
413 | E>A | No |
ClinGen TOPMed |
|
|
CA357952704 rs1292127815 |
413 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3025058 rs752102879 |
414 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA357952721 rs1185815205 |
415 | D>Y | No |
ClinGen TOPMed |
|
|
rs1207774540 CA357952731 |
416 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 417 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA103081730 rs1053170065 |
418 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA357952752 rs1447460571 |
419 | D>A | No |
ClinGen gnomAD |
|
|
CA103081731 rs893222221 |
419 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA357952751 rs893222221 |
419 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3025059 rs757816638 |
420 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1011564155 CA103081732 |
421 | A>P | No |
ClinGen TOPMed |
|
|
rs867393115 CA103081733 |
422 | S>P | No |
ClinGen Ensembl |
|
|
rs1266085229 CA357952777 |
423 | F>S | No |
ClinGen TOPMed |
|
|
rs1447784389 CA357952782 |
424 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 425 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA103081734 rs541276058 |
426 | Y>C | No |
ClinGen 1000Genomes |
|
|
rs1335007265 CA357952807 |
428 | P>T | No |
ClinGen TOPMed |
|
|
rs755280198 CA3025090 |
431 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357952862 rs1286243354 |
434 | A>E | No |
ClinGen gnomAD |
|
|
rs778935117 CA3025091 |
434 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357952884 rs921760645 |
437 | H>L | No |
ClinGen TOPMed |
|
|
CA103082130 rs921760645 |
437 | H>P | No |
ClinGen TOPMed |
|
|
CA103082129 rs974587387 |
437 | H>Y | No |
ClinGen Ensembl |
|
|
rs1233925006 CA357952887 |
438 | E>K | No |
ClinGen gnomAD |
|
|
rs758390898 CA3025093 |
440 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA357952916 rs1261267920 |
441 | K>N | No |
ClinGen TOPMed |
|
|
CA357952918 rs1203150226 |
442 | T>A | No |
ClinGen TOPMed |
|
|
CA357952921 rs1311487150 |
442 | T>R | No |
ClinGen TOPMed |
|
|
CA103082131 rs548015938 |
443 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1370995339 CA357952926 |
443 | Y>C | No |
ClinGen TOPMed |
|
|
CA3025096 rs371742097 |
443 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1049543 CA3025098 rs745597522 |
444 | G>R | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA357952940 rs1250092036 |
445 | Q>H | No |
ClinGen gnomAD |
|
|
rs1177471211 CA357952944 |
446 | S>N | No |
ClinGen gnomAD |
|
|
rs769451435 CA3025099 |
446 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs774992088 CA3025100 |
447 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA357952953 rs1464154092 |
447 | A>V | No |
ClinGen gnomAD |
|
|
CA357952954 rs1334060026 |
448 | D>N | No |
ClinGen TOPMed |
|
|
CA3025102 rs375068296 |
449 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3025101 rs148590707 |
449 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375068296 CA357952965 |
449 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201056526 CA3025103 |
450 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201056526 CA3025104 |
450 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1305913360 CA357953011 |
456 | E>* | No |
ClinGen gnomAD |
|
|
rs766951055 CA3025106 |
456 | E>V | No |
ClinGen ExAC |
|
|
rs755333110 CA3025108 |
457 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3025107 rs778161339 |
457 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3025109 rs377733591 |
460 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3025110 rs751071294 |
461 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3025111 rs758544798 |
462 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs777691394 CA3025112 |
463 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA357953073 rs1482959014 |
465 | G>D | No |
ClinGen gnomAD |
|
|
CA357953086 rs1246465208 |
466 | M>K | No |
ClinGen TOPMed |
|
|
rs201201343 CA3025114 |
467 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357953123 rs1197492160 |
469 | K>N | No |
ClinGen gnomAD |
|
|
CA357953125 rs1241132838 |
470 | H>Y | No |
ClinGen gnomAD |
|
|
rs527554924 CA3025116 |
471 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs552191803 CA3025118 |
473 | L>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA357953174 rs1458280367 |
474 | E>G | No |
ClinGen gnomAD |
|
|
CA357953170 rs1369703064 |
474 | E>K | No |
ClinGen gnomAD |
|
|
CA103082134 rs749627068 |
475 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3025119 rs144484254 |
477 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3025120 rs748874013 |
477 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs898910295 CA103082135 |
478 | E>G | No |
ClinGen TOPMed |
|
|
CA3025121 rs768309309 |
479 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1362110452 CA357953231 |
480 | S>P | No |
ClinGen TOPMed |
|
|
rs1055562651 CA103082136 |
483 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3025124 rs771389312 |
484 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3025123 rs761337896 |
484 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA357953316 rs1164558925 |
486 | D>N | No |
ClinGen TOPMed |
|
|
rs777261051 CA3025125 |
487 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA357953331 rs1383588340 |
487 | L>V | No |
ClinGen TOPMed |
|
|
CA3025126 rs760043813 |
488 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA357953402 rs1267632459 |
494 | A>T | No |
ClinGen gnomAD |
|
|
CA3025129 rs147307680 |
495 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3025128 rs147307680 |
495 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1248086635 CA357953489 |
501 | Q>P | No |
ClinGen gnomAD |
|
|
rs1429186244 CA357953510 |
503 | P>S | No |
ClinGen TOPMed |
|
|
CA3025130 rs764312059 |
504 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1186276449 CA357953515 |
504 | L>V | No |
ClinGen gnomAD |
|
|
rs751653833 CA3025131 |
506 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs751653833 CA103082137 |
506 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3025132 rs140895625 |
507 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781174225 CA3025133 |
508 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs374205284 CA3025134 |
509 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755990627 CA357953584 |
511 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs201568340 CA357953586 |
511 | L>H | No |
ClinGen ExAC |
|
|
rs755990627 CA3025136 |
511 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA3025138 rs201568340 |
511 | L>P | No |
ClinGen ExAC |
|
|
CA357953594 rs1409200821 |
512 | P>S | No |
ClinGen Ensembl |
|
|
CA3025143 rs150848399 |
513 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3025144 rs377520845 |
513 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3025145 rs377520845 |
513 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3025146 rs377520845 |
513 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3025142 rs150848399 |
513 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150848399 CA357953605 |
513 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA103082140 rs774795790 COSM228059 |
514 | P>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs774795790 CA103082139 |
514 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM289144 CA3025151 rs761921169 |
515 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs201756289 CA3025152 |
515 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1423577346 CA357953636 |
517 | V>I | No |
ClinGen Ensembl |
|
|
rs1396687482 CA357953659 |
520 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1396687482 CA357953658 |
520 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3025154 rs190942353 |
524 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1375025394 CA357953699 |
524 | E>G | No |
ClinGen TOPMed |
|
|
CA357953711 rs753585763 |
526 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753585763 CA3025156 |
526 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3025155 rs776298471 |
526 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3025157 rs754785098 |
527 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA357953720 rs1200127178 |
528 | F>V | No |
ClinGen TOPMed |
|
|
rs1415178526 CA357953993 |
533 | T>K | No |
ClinGen gnomAD |
|
|
rs767688855 CA3025176 |
534 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1357588589 CA357954006 |
535 | V>M | No |
ClinGen gnomAD |
|
|
rs1414422701 CA357954020 |
537 | G>C | No |
ClinGen gnomAD |
|
|
rs1308977689 CA357954030 |
538 | Q>H | No |
ClinGen gnomAD |
|
|
CA3025177 rs750475758 |
539 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA357954049 rs1279542452 |
541 | R>* | No |
ClinGen gnomAD |
|
|
CA357954097 rs760747366 |
547 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3025180 rs760747366 |
547 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766282247 CA3025181 |
549 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs998196098 CA103082572 |
550 | V>I | No |
ClinGen TOPMed |
|
|
rs754765481 CA3025183 |
553 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3025184 rs765102387 |
555 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310938274 CA357954149 |
555 | G>V | No |
ClinGen gnomAD |
|
|
CA3025185 rs752490942 |
556 | D>E | No |
ClinGen ExAC |
|
|
rs758154754 CA3025186 |
558 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs777498532 CA3025187 |
559 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA357954178 rs1247150442 |
560 | G>R | No |
ClinGen gnomAD |
|
|
rs746560389 CA3025188 |
563 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA357954202 rs1210718886 |
563 | E>G | No |
ClinGen gnomAD |
|
|
rs1393385629 CA357954207 |
564 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 564 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357954211 rs1578466695 |
564 | K>R | No |
ClinGen Ensembl |
|
|
CA357954227 rs1157386234 |
566 | E>G | No |
ClinGen TOPMed |
|
|
rs1560696774 CA357954222 |
566 | E>K | No |
ClinGen Ensembl |
|
|
rs1169514590 CA357954260 |
569 | K>R | No |
ClinGen gnomAD |
|
|
rs145161554 CA3025190 |
570 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3025189 rs145161554 |
570 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357954281 rs1408633607 |
571 | Q>K | No |
ClinGen gnomAD |
|
|
CA3025191 rs749781056 |
573 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747612720 CA103082575 |
575 | E>* | No |
ClinGen Ensembl |
|
|
CA3025194 rs148253978 |
577 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773468425 CA357954410 |
579 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3025196 rs773468425 |
579 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3025198 rs766447099 |
581 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357954472 rs1290361425 |
583 | I>T | No |
ClinGen gnomAD |
|
|
rs776477993 CA3025199 |
584 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3025200 rs755616158 |
586 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3025201 rs765225012 |
596 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs758255317 CA3025203 |
597 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs752544101 CA3025202 |
597 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 598 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357954616 rs1474557419 |
601 | T>I | No |
ClinGen gnomAD |
|
| rs767996255 | 601 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357954613 rs1392179757 |
601 | T>P | No |
ClinGen gnomAD |
|
|
rs763908649 CA3025205 |
602 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs76745970 CA3025208 |
604 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3025207 rs76745970 |
604 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1426133 rs751193940 CA3025206 |
604 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3025210 rs755483293 |
605 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA103082577 rs1017216571 |
606 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA357954672 rs1246495570 |
610 | R>I | No |
ClinGen TOPMed |
|
|
rs1578466835 CA357954673 |
610 | R>S | No |
ClinGen Ensembl |
|
|
rs1362524114 CA357954687 |
613 | A>T | No |
ClinGen gnomAD |
|
|
CA357954693 rs1284541912 |
614 | P>T | No |
ClinGen gnomAD |
|
|
CA103082578 rs969527672 |
615 | T>A | No |
ClinGen TOPMed |
|
|
rs779337958 CA3025211 |
615 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1382360186 CA357954706 |
616 | P>L | No |
ClinGen TOPMed |
|
|
rs1560696993 CA357954710 |
617 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3025213 rs748567040 |
617 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3025212 rs748567040 |
617 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3025214 rs773341568 |
618 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA357954714 rs1209374335 |
618 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3025215 rs747228348 |
620 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357954733 rs1369400123 |
621 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3025216 rs771009926 |
621 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs865962762 COSM1694745 CA103082580 |
623 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs776803297 CA3025217 |
625 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775565216 CA3025220 |
626 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357954766 rs765278116 |
626 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765278116 CA3025219 |
626 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA103082581 rs987910848 |
627 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs987910848 CA357954772 |
627 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA357954769 rs1430322830 |
627 | T>S | No |
ClinGen TOPMed |
|
|
rs763926881 CA3025222 |
628 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751264196 CA3025223 |
629 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1464418723 CA357954792 |
631 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 632 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357954803 rs1432175742 |
632 | A>V | No |
ClinGen gnomAD |
|
|
rs1327583999 CA357954806 |
633 | Q>E | No |
ClinGen gnomAD |
|
|
CA357954965 rs1312003246 |
635 | F>L | No |
ClinGen gnomAD |
|
|
rs77609930 CA103084018 |
637 | Q>K | No |
ClinGen Ensembl |
|
|
rs1350924013 CA357954986 |
637 | Q>R | No |
ClinGen gnomAD |
|
|
CA3025244 rs761460086 |
640 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 641 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140337324 CA3025245 |
641 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750069678 CA3025247 |
641 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs750069678 CA3025246 |
641 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs942942664 CA103084020 |
642 | R>K | No |
ClinGen TOPMed |
|
|
CA3025248 rs765849462 |
644 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA103084022 COSM110174 rs149505667 |
646 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs370674109 CA3025253 |
647 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781518455 CA357955123 |
648 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781518455 CA3025254 |
648 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357955146 rs3113676 |
650 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_027731 CA3025255 rs3113676 |
650 | C>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs3113676 CA357955143 |
650 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3025256 rs770093257 COSM732099 |
650 | C>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3025257 rs780313755 |
651 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1419013932 CA357955159 |
651 | G>V | No |
ClinGen gnomAD |
|
|
CA3025259 rs768656807 |
655 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs774144753 CA3025260 |
656 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA357955586 rs1372214886 |
657 | D>E | No |
ClinGen TOPMed |
|
|
CA3025277 rs755011696 |
659 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778946197 CA3025278 |
660 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190616899 CA3025279 |
660 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778946197 CA357955615 |
660 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 662 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs920056723 CA103085644 |
663 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA357955699 rs1177109619 |
665 | A>G | No |
ClinGen TOPMed |
|
|
CA357955700 rs1177109619 |
665 | A>V | No |
ClinGen TOPMed |
|
|
rs1578485939 CA357955710 |
666 | F>S | No |
ClinGen Ensembl |
|
|
rs140761128 CA3025282 |
668 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357955766 rs1183802726 |
669 | L>P | No |
ClinGen TOPMed |
|
|
rs770582672 CA3025283 |
670 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3025286 rs776251216 |
671 | G>D | No |
ClinGen ExAC |
|
|
rs1275673148 CA357955780 |
671 | G>S | No |
ClinGen gnomAD |
|
|
CA357955799 rs1467539339 |
672 | C>R | No |
ClinGen gnomAD |
|
|
CA3025287 rs759151716 |
673 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs571583427 CA3025288 |
674 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762259100 CA3025290 |
676 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3025289 rs775018051 |
676 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA357955872 rs1166651726 |
677 | Q>H | No |
ClinGen gnomAD |
|
|
CA3025292 rs750834847 |
678 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1313066047 CA357955891 |
679 | E>G | No |
ClinGen TOPMed |
|
|
CA357955887 rs1460874070 |
679 | E>K | No |
ClinGen gnomAD |
|
|
rs1164248100 CA357955901 |
680 | L>F | No |
ClinGen gnomAD |
|
|
CA3025293 rs756538493 |
680 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA357955908 rs1287395291 |
681 | I>L | No |
ClinGen gnomAD |
|
|
rs150091265 CA3025296 |
685 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778879836 CA3025297 |
687 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3025298 rs748214974 |
688 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA103085647 rs960814225 |
690 | G>R | No |
ClinGen Ensembl |
|
|
CA3025299 rs758332446 |
691 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA357956048 rs1268187828 |
692 | M>T | No |
ClinGen gnomAD |
|
|
rs746862290 CA3025301 |
694 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3025300 rs777629504 |
694 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA357956079 rs1259716498 |
695 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA357956093 rs1483379192 |
696 | E>D | No |
ClinGen gnomAD |
|
|
COSM298274 CA357956090 rs1157349830 |
696 | E>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA357956113 rs1189738526 |
697 | A>G | No |
ClinGen gnomAD |
|
|
rs1578486063 CA357956097 |
697 | A>P | No |
ClinGen Ensembl |
|
|
CA357956121 rs1474819912 |
699 | E>Q | No |
ClinGen gnomAD |
|
|
rs770707288 CA3025302 |
704 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA103085648 rs376148300 |
704 | W>L | No |
ClinGen ESP TOPMed |
|
|
rs770707288 CA3025303 |
704 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs745530478 CA3025304 |
705 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs769450060 CA3025305 |
706 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA103085649 rs894879219 |
707 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1157018312 CA357956240 |
708 | K>R | No |
ClinGen gnomAD |
|
|
rs774869173 CA3025306 |
712 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3025309 rs557074938 |
713 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA103085650 rs930791343 |
714 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3025310 rs773855850 |
714 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA103085651 rs1046024417 |
715 | Q>R | No |
ClinGen TOPMed |
|
|
rs1560716004 CA357956521 |
718 | K>I | No |
ClinGen Ensembl |
|
|
CA3025331 rs761282774 |
720 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3025333 rs192793442 |
720 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs192793442 CA3025332 |
720 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357956544 rs1250259483 |
722 | L>P | No |
ClinGen TOPMed |
|
|
CA3025335 rs759883744 |
723 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765433742 CA3025336 |
723 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357956553 rs1454010016 |
724 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 724 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752957905 CA3025337 |
726 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763059732 CA3025338 |
728 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA3025339 rs764135336 |
729 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751598894 CA357956590 |
730 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs757193541 CA3025341 |
730 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1315368374 CA357956598 |
731 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs199932460 CA3025342 |
732 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 733 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139156977 CA103085911 |
733 | E>V | No |
ClinGen 1000Genomes |
|
|
CA3025344 rs200183297 |
735 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA103085912 rs202199731 |
737 | Y>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA357953785 rs1382267769 |
741 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 742 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357953817 rs1357183329 |
745 | H>Q | No |
ClinGen gnomAD |
|
|
CA3025369 rs748093855 |
745 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357953828 rs1449731331 |
747 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3025385 rs773120145 |
748 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs769908467 CA3025370 |
748 | G>S | No |
ClinGen ExAC |
|
|
rs760689074 CA3025386 |
753 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330950196 CA357953882 |
754 | N>D | No |
ClinGen gnomAD |
|
|
rs138372719 CA3025388 |
757 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765047456 CA3025390 |
759 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs144123297 CA3025389 |
759 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3025391 rs35484557 |
762 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761188879 CA103086829 |
765 | N>H | No |
ClinGen TOPMed |
|
|
rs975019256 CA103086830 |
765 | N>I | No |
ClinGen TOPMed |
|
|
rs975019256 CA103086831 |
765 | N>S | No |
ClinGen TOPMed |
|
|
CA3025414 rs762697682 |
769 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763596060 CA3025415 |
770 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3025416 rs763596060 |
770 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3025417 rs151065949 |
770 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 771 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200271324 CA103086959 |
772 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA103086960 rs139286252 |
773 | V>I | No |
ClinGen ESP |
|
| TCGA novel | 774 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765801984 CA3025419 |
775 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3025420 rs373880334 |
776 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3025421 rs779284948 |
777 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357954407 COSM159324 rs1396849182 |
779 | F>L | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1396992880 CA357954414 |
780 | C>Y | No |
ClinGen TOPMed |
|
|
CA3025422 rs748391493 |
781 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA3025423 rs368081299 |
782 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777842490 CA3025424 |
783 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA357954464 rs1340408113 |
784 | D>Y | No |
ClinGen gnomAD |
|
|
rs1560721826 CA357954502 |
786 | H>K | No |
ClinGen Ensembl |
|
|
rs371337406 CA3025425 |
786 | H>Y | No |
ClinGen ESP ExAC gnomAD |
No associated diseases with Q8NDB2
No regional properties for Q8NDB2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8NDB2 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| phospholipase binding | Binding to a phospholipase. |
| protease binding | Binding to a protease or a peptidase. |
| protein tyrosine kinase binding | Binding to protein tyrosine kinase. |
| signaling adaptor activity | The binding activity of a molecule that brings together two or more molecules in a signaling pathway, permitting those molecules to function in a coordinated way. Adaptor molecules themselves do not have catalytic activity. |
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| B cell activation | The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. |
| B cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a B cell. |
| MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| negative regulation of B cell activation | Any process that stops, prevents, or reduces the frequency, rate or extent of B cell activation. |
| negative regulation of interleukin-6 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-6 production. |
| negative regulation of protein kinase B signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| negative regulation of translational initiation | Any process that stops, prevents, or reduces the frequency, rate or extent of translational initiation. |
| positive regulation of MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. |
| positive regulation of peptidyl-tyrosine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine. |
| protein kinase B signaling | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. |
| response to bacterium | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q80VH0 | Bank1 | B-cell scaffold protein with ankyrin repeats | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLPAAPGKGL | GSPDPAPCGP | APPGNTKDII | MIYEEDAEEW | ALYLTEVFLH | VVKREAILLY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RLENFSFRHL | ELLNLTSYKC | KLLILSNSLL | RDLTPKKCQF | LEKILHSPKS | VVTLLCGVKS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SDQLYELLNI | SQSRWEISTE | QEPEDYISVI | QSIIFKDSED | YFEVNIPTDL | RAKHSGEISE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RKEIEELSEA | SRNTIPLAVV | LPTEIPCENP | GEIFIILRDE | VIGDTVEVEF | TSSNKRIRTR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PALWNKKVWC | MKALEFPAGS | VHVNVYCDGI | VKATTKIKYY | PTAKAKECLF | RMADSGESLC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QNSIEELDGV | LTSIFKHEIP | YYEFQSLQTE | ICSQNKYTHF | KELPTLLHCA | AKFGLKNLAI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HLLQCSGATW | ASKMKNMEGS | DPAHIAERHG | HKELKKIFED | FSIQEIDINN | EQENDYEEDI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ASFSTYIPST | QNPAFHHESR | KTYGQSADGA | EANEMEGEGK | QNGSGMETKH | SPLEVGSESS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EDQYDDLYVF | IPGADPENNS | QEPLMSSRPP | LPPPRPVANA | FQLERPHFTL | PGTMVEGQME |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RSQNWGHPGV | RQETGDEPKG | EKEKKEEEKE | QEEEEDPYTF | AEIDDSEYDM | ILANLSIKKK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TGSRSFIINR | PPAPTPRPTS | IPPKEETTPY | IAQVFQQKTA | RRQSDDDKFC | GLPKKQDRAR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IESPAFSTLR | GCLTDGQEEL | ILLQEKVKNG | KMSMDEALEK | FKHWQMGKSG | LEMIQQEKLR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QLRDCIIGKR | PEEENVYNKL | TIVHHPGGKE | TAHNENKFYN | VHFSNKLPAR | PQVEKEFGFC |
| CKKDH |