Q6DN14
PR
Gene name |
MCTP1 |
Protein name |
Multiple C2 and transmembrane domain-containing protein 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79772 |
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 Q6DN14
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6DN14-F1 | Predicted | AlphaFoldDB |
798 variants for Q6DN14
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs961409379 CA123429104 |
2 | E>K | No |
ClinGen Ensembl |
|
|
rs749256794 CA360548369 |
3 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749256794 CA3345882 |
3 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360548361 rs1171453776 |
4 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 5 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1354487045 CA360548345 |
7 | A>E | No |
ClinGen TOPMed |
|
|
CA123429103 rs953875218 |
8 | A>E | No |
ClinGen gnomAD |
|
|
CA360548337 rs1163815048 |
9 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 10 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360548304 rs1176354306 |
13 | P>L | No |
ClinGen gnomAD |
|
|
CA360548306 rs1176354306 |
13 | P>Q | No |
ClinGen gnomAD |
|
|
rs1342503319 CA360548298 |
14 | P>L | No |
ClinGen gnomAD |
|
|
CA360548294 rs1238318183 |
15 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA360548292 rs1238318183 |
15 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3345881 rs555606660 |
17 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA360548270 rs1228979256 |
19 | S>F | No |
ClinGen TOPMed |
|
|
CA123429100 rs1000795032 |
19 | S>P | No |
ClinGen Ensembl |
|
|
CA360548262 rs745597394 |
20 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs781036316 CA3345878 |
21 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360548248 rs756917436 |
23 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3345877 rs756917436 |
23 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360548242 rs1202994503 |
24 | L>F | No |
ClinGen TOPMed |
|
|
CA360548232 rs1253687253 |
25 | W>* | No |
ClinGen TOPMed |
|
|
CA360548222 rs903819293 |
26 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA123429098 rs1042781047 |
27 | N>K | No |
ClinGen Ensembl |
|
|
rs1009605699 CA123429097 |
28 | L>P | No |
ClinGen Ensembl |
|
|
rs928088189 CA360548209 |
29 | Q>* | No |
ClinGen TOPMed |
|
|
rs928088189 CA123429096 |
29 | Q>K | No |
ClinGen TOPMed |
|
|
CA123429095 rs896550238 |
31 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA123429094 rs911723183 |
32 | V>G | No |
ClinGen Ensembl |
|
|
rs1376429126 CA360548184 |
33 | G>D | No |
ClinGen gnomAD |
|
|
CA123429093 rs1056576484 |
33 | G>S | No |
ClinGen TOPMed |
|
|
rs938158275 CA123429092 |
34 | R>K | No |
ClinGen Ensembl |
|
|
CA123429091 rs372433650 |
35 | S>G | No |
ClinGen Ensembl |
|
|
CA360548171 rs1332211523 |
35 | S>R | No |
ClinGen gnomAD |
|
|
CA360548169 rs1418221249 |
36 | K>E | No |
ClinGen TOPMed |
|
|
CA360548166 rs1449007321 |
36 | K>R | No |
ClinGen gnomAD |
|
|
CA3345876 rs751200231 |
37 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360548159 rs1458250901 |
37 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs777187124 CA3345875 |
39 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs926800973 CA123429090 |
39 | G>R | No |
ClinGen Ensembl |
|
|
rs757938420 CA3345874 |
40 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA123429088 rs1049264105 |
40 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA123429089 rs1049264105 |
40 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs757938420 CA360548145 |
40 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276689861 CA360548142 |
41 | G>W | No |
ClinGen TOPMed |
|
|
CA123429086 rs953436487 |
42 | R>G | No |
ClinGen Ensembl |
|
|
CA360548133 rs1489078471 |
43 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1489078471 CA360548132 |
43 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3345872 rs765776721 |
44 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1294484127 CA360548126 CA360548127 |
44 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3345871 rs759980183 |
45 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs957000312 CA123429084 |
46 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360548116 rs754316230 |
46 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754316230 CA3345870 |
46 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360548104 rs1300641362 |
48 | R>C | No |
ClinGen gnomAD |
|
|
rs1387331385 CA360548102 |
48 | R>H | No |
ClinGen gnomAD |
|
|
CA360548098 rs766747520 |
49 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766747520 CA360548099 |
49 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766747520 CA3345869 |
49 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360548091 rs1562302627 |
50 | T>I | No |
ClinGen Ensembl |
|
|
CA360548085 rs1170958013 |
51 | A>E | No |
ClinGen TOPMed |
|
|
CA360548088 rs1418800385 |
51 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 51 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360548076 rs1376619608 |
52 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA360548079 rs1464201751 |
52 | D>G | No |
ClinGen gnomAD |
|
|
CA360548080 rs1160038854 |
52 | D>Y | No |
ClinGen gnomAD |
|
|
CA360548072 rs1434323624 |
53 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs772068830 CA3345866 |
53 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs368437699 CA123429082 |
54 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA123429083 rs368437699 |
54 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3345864 rs368437699 |
54 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360548048 rs1207161466 |
58 | P>T | No |
ClinGen gnomAD |
|
|
rs1343109758 CA360548037 |
59 | P>L | No |
ClinGen gnomAD |
|
|
rs199518217 CA3345861 |
60 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368172405 CA3345858 |
61 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3345857 rs757993375 |
61 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3345859 rs368172405 |
61 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368172405 CA360548031 |
61 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA123429081 rs972795452 |
62 | V>E | No |
ClinGen Ensembl |
|
|
CA3345856 rs752184246 |
62 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778558227 CA3345854 |
65 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1401052970 CA360547994 |
67 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3345852 rs754343720 |
68 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1169115227 CA360547986 |
69 | A>S | No |
ClinGen gnomAD |
|
|
rs998135813 CA123429080 |
69 | A>V | No |
ClinGen TOPMed |
|
|
CA3345850 rs761054788 |
70 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3345848 rs373959393 |
70 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750626695 CA3345849 |
70 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360547978 rs1379728082 |
71 | G>R | No |
ClinGen TOPMed |
|
|
rs762019128 CA360547966 |
72 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA360547969 rs1255661991 |
72 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 72 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774471548 CA3345845 |
73 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA360547961 rs1256199915 |
73 | G>V | No |
ClinGen gnomAD |
|
|
CA360547952 rs1217986140 |
75 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA360547953 rs1217986140 |
75 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1280306914 CA360547945 |
76 | S>N | No |
ClinGen gnomAD |
|
|
CA360547937 rs1299193633 |
77 | R>T | No |
ClinGen TOPMed |
|
|
rs1582734011 CA360547929 |
78 | W>L | No |
ClinGen Ensembl |
|
|
CA3345843 rs759508816 |
78 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA360547916 rs371315029 |
80 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3345841 rs371315029 |
80 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1334349872 CA360547915 |
80 | G>V | No |
ClinGen gnomAD |
|
|
CA3345840 rs746757751 |
85 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3345839 rs772740313 |
86 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1363339672 CA360547853 |
89 | D>E | No |
ClinGen gnomAD |
|
|
CA3345837 rs747784471 |
89 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs778611095 CA3345836 |
90 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170021353 CA360547849 |
90 | R>P | No |
ClinGen gnomAD |
|
|
CA360547850 rs1170021353 |
90 | R>Q | No |
ClinGen gnomAD |
|
|
rs1000741289 CA123429077 |
92 | F>L | No |
ClinGen Ensembl |
|
|
rs754500218 CA3345835 |
93 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 94 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360547808 rs1198078847 |
97 | P>T | No |
ClinGen gnomAD |
|
|
rs1270112254 CA360547800 |
98 | N>S | No |
ClinGen TOPMed |
|
|
CA360547793 rs1274962281 |
99 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA360547791 rs1274962281 |
99 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360547785 rs1355332196 |
100 | C>F | No |
ClinGen gnomAD |
|
|
rs1402671266 CA360547789 |
100 | C>R | No |
ClinGen Ensembl |
|
|
rs750866641 CA3345830 |
101 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1374184117 CA360547772 |
102 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1374184117 CA360547770 |
102 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs757523054 CA3345828 |
103 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368282659 CA3345827 |
104 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA360547762 rs1331410806 |
104 | P>S | No |
ClinGen gnomAD |
|
|
CA360547757 rs1390524522 |
105 | E>* | No |
ClinGen gnomAD |
|
|
rs1456463622 CA360547746 |
106 | P>L | No |
ClinGen TOPMed |
|
|
CA360547749 rs1164589108 |
106 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1164589108 CA360547751 |
106 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3345826 rs374213028 |
108 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3345825 rs763039447 |
109 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3345822 rs760522131 |
110 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234564570 CA360547728 |
110 | G>S | No |
ClinGen gnomAD |
|
|
CA3345821 rs773195287 |
111 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224439912 CA360547717 |
112 | A>P | No |
ClinGen gnomAD |
|
|
CA123429075 rs546374504 |
113 | G>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA360547712 rs546374504 |
113 | G>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1308013699 CA360547701 |
114 | R>S | No |
ClinGen gnomAD |
|
|
rs771965681 CA3345820 |
115 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1272548984 CA360547679 |
118 | G>R | No |
ClinGen gnomAD |
|
|
CA3345818 rs774100639 |
118 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA123429074 rs989792809 |
119 | S>A | No |
ClinGen Ensembl |
|
|
rs1158236588 CA360547658 |
122 | R>S | No |
ClinGen gnomAD |
|
|
CA3345812 rs757575868 |
123 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3345811 rs757575868 |
123 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 124 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA123429073 rs563951130 |
125 | I>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs575323070 CA3345809 |
127 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1487162126 CA360547623 |
128 | H>D | No |
ClinGen gnomAD |
|
|
rs956727549 CA123429072 |
128 | H>L | No |
ClinGen Ensembl |
|
|
rs1487162126 CA360547622 |
128 | H>Y | No |
ClinGen gnomAD |
|
|
CA3345808 rs561495669 |
129 | L>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3345807 rs752884538 |
130 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs750350356 CA3345805 |
132 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA123429071 rs200472086 |
132 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA360547600 rs200472086 |
132 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs750350356 CA3345804 |
132 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1582733484 CA360547597 |
133 | V>I | No |
ClinGen Ensembl |
|
|
rs774151998 CA3345802 |
135 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3345801 rs774151998 |
135 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3345803 rs767445771 |
135 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482549053 CA360547578 |
136 | P>S | No |
ClinGen gnomAD |
|
|
CA360547570 rs1338962070 |
137 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA360547573 rs1176433045 |
137 | A>P | No |
ClinGen Ensembl |
|
|
rs1338962070 CA360547569 |
137 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768423999 CA3345800 |
138 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs768423999 CA360547564 |
138 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3345798 rs775115981 |
139 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA360547559 rs1413924212 |
139 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360547557 rs1429943919 |
140 | S>P | No |
ClinGen gnomAD |
|
|
CA360547547 rs1422082178 |
141 | G>E | No |
ClinGen TOPMed |
|
|
CA360547552 rs1178545358 |
141 | G>R | No |
ClinGen gnomAD |
|
|
CA360547546 rs1167043694 |
142 | A>T | No |
ClinGen TOPMed |
|
|
CA123429068 rs985244801 |
143 | A>S | No |
ClinGen TOPMed |
|
|
CA360547540 rs985244801 |
143 | A>T | No |
ClinGen TOPMed |
|
|
rs930841145 CA123429067 |
143 | A>V | No |
ClinGen Ensembl |
|
|
rs1582733329 CA360547534 |
144 | G>E | No |
ClinGen Ensembl |
|
|
rs932372582 CA123429066 |
144 | G>R | No |
ClinGen TOPMed |
|
|
CA123429065 rs922488628 |
146 | T>A | No |
ClinGen TOPMed |
|
|
CA360547519 rs1186880200 |
147 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA360547515 rs1486642804 |
147 | P>L | No |
ClinGen gnomAD |
|
|
CA360547518 rs1186880200 |
147 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA123429064 rs373085719 |
148 | P>S | No |
ClinGen ESP gnomAD |
|
|
rs781626651 CA3345795 |
150 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA123429063 rs919482453 |
151 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs919482453 CA123429062 |
151 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs771297699 CA3345794 |
152 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA360547489 rs771297699 |
152 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3345793 rs370172247 |
153 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370172247 CA3345792 |
153 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360547481 rs1301275184 |
154 | D>G | No |
ClinGen gnomAD |
|
|
rs758702571 CA3345791 |
154 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360547483 rs758702571 |
154 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779084760 CA3345789 |
155 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA3345790 rs752837027 |
155 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3345788 rs754966669 |
156 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA360547466 rs1273116559 |
157 | P>S | No |
ClinGen TOPMed |
|
|
CA3345787 rs750403530 |
158 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA360547453 rs1309931318 |
159 | S>F | No |
ClinGen gnomAD |
|
|
CA3345786 rs767499063 |
159 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA360547456 rs767499063 |
159 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs761838681 CA3345785 |
160 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs751458643 CA3345784 |
161 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360547445 rs1411228121 |
161 | S>F | No |
ClinGen gnomAD |
|
|
rs763776050 CA3345783 |
164 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA360547421 rs201538284 |
165 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3345782 rs201538284 |
165 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1196205035 CA360547418 |
166 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1251189846 CA360547405 |
168 | S>C | No |
ClinGen gnomAD |
|
|
rs1251189846 CA360547404 |
168 | S>F | No |
ClinGen gnomAD |
|
|
CA123429061 rs983969356 |
170 | P>L | No |
ClinGen TOPMed |
|
|
rs1310998643 CA360547386 |
171 | Q>H | No |
ClinGen gnomAD |
|
|
CA360547389 rs1309674186 |
171 | Q>R | No |
ClinGen gnomAD |
|
|
rs1245593164 CA360547376 |
173 | P>S | No |
ClinGen gnomAD |
|
|
CA360547378 rs1245593164 |
173 | P>T | No |
ClinGen gnomAD |
|
|
rs1358409537 CA360547366 |
175 | R>G | No |
ClinGen TOPMed |
|
|
CA360547364 rs1444578724 |
175 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs372798151 CA3345778 |
176 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 177 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs986510943 CA360547345 |
178 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs986510943 CA360547346 |
178 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs986510943 CA123429058 |
178 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs953775872 CA123429056 |
179 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1176257632 CA360547336 |
180 | R>G | No |
ClinGen gnomAD |
|
|
CA3345776 rs747499846 |
180 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA123429053 rs979247984 CA360547318 |
182 | E>D | No |
ClinGen gnomAD |
|
|
rs1481898790 CA360547317 |
183 | G>S | No |
ClinGen gnomAD |
|
|
rs748427463 CA3345773 |
185 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA360547302 rs748427463 |
185 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1188457899 CA360547304 |
185 | R>W | No |
ClinGen gnomAD |
|
|
rs967898823 CA123429052 |
186 | R>C | No |
ClinGen TOPMed |
|
|
CA123429051 rs1021268923 |
186 | R>L | No |
ClinGen Ensembl |
|
|
CA360547300 rs967898823 |
186 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 188 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360547281 rs1294159114 |
189 | P>S | No |
ClinGen gnomAD |
|
|
rs1238094169 CA360547269 |
191 | A>S | No |
ClinGen gnomAD |
|
|
rs1307771655 CA360547250 |
194 | C>S | No |
ClinGen gnomAD |
|
|
CA360547230 rs1229842735 |
196 | Q>R | No |
ClinGen TOPMed |
|
|
CA3345771 rs755094346 |
197 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs960951918 CA123429050 |
198 | S>N | No |
ClinGen Ensembl |
|
|
CA3345770 rs754038525 |
199 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212423618 CA360547202 |
200 | S>F | No |
ClinGen TOPMed |
|
|
rs780268812 CA123429048 |
201 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250023992 CA360547199 |
201 | L>P | No |
ClinGen TOPMed |
|
|
CA360547193 rs1156418473 |
202 | P>R | No |
ClinGen gnomAD |
|
|
CA360547195 rs1367078616 |
202 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1363933117 CA360547177 |
205 | A>S | No |
ClinGen gnomAD |
|
|
rs1183347708 CA360547174 |
205 | A>V | No |
ClinGen gnomAD |
|
|
rs1265329030 CA360547077 |
220 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360547078 rs1265329030 |
220 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs763979659 CA3345766 |
221 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360547072 rs763979659 |
221 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758077763 CA3345765 |
222 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4137893 CA360547058 rs1241190659 |
224 | P>A | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1582732637 CA360547056 |
224 | P>H | No |
ClinGen Ensembl |
|
|
rs1221312520 CA360547046 |
226 | E>K | No |
ClinGen TOPMed |
|
|
CA3345763 rs764728886 |
228 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA123429043 rs994941054 |
229 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs898004772 CA360547021 |
230 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs898004772 CA123429042 |
230 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360547022 rs1347220081 |
230 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360547024 rs1347220081 |
230 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs200304641 CA3345762 |
232 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776172624 CA3345761 |
233 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA360546980 rs1376461964 |
236 | H>Q | No |
ClinGen gnomAD |
|
|
rs377659390 CA3345760 |
236 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360546977 rs761207624 |
237 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3345759 rs761207624 |
237 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360546962 rs1439265502 |
239 | S>N | No |
ClinGen TOPMed |
|
|
CA360546953 rs1582732431 |
240 | Q>R | No |
ClinGen Ensembl |
|
|
rs752124916 CA3345698 |
241 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs181107062 CA3345697 |
244 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763549206 CA3345696 |
245 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA123399978 rs574382891 |
247 | G>R | No |
ClinGen Ensembl |
|
|
CA360546044 rs1244413462 |
248 | T>N | No |
ClinGen gnomAD |
|
|
rs1479938593 CA360546025 |
251 | A>T | No |
ClinGen gnomAD |
|
|
rs1227543551 CA360546019 |
251 | A>V | No |
ClinGen gnomAD |
|
|
rs765670279 CA3345693 |
252 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA360546011 rs1289810436 |
253 | V>I | No |
ClinGen gnomAD |
|
|
rs200443526 CA3345692 |
254 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs922235415 CA123399977 |
254 | P>S | No |
ClinGen TOPMed |
|
|
CA3345690 rs534032598 |
255 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1581861323 CA360545989 |
256 | A>V | No |
ClinGen Ensembl |
|
|
CA3345687 rs773278512 |
258 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3618809 rs773278512 CA3345688 COSM1754369 |
258 | P>S | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs749205654 CA3345685 |
259 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3345684 rs779865101 |
260 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA360545967 rs1444048880 |
260 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360545902 CA3345681 rs756723919 |
269 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868241044 CA123399976 |
270 | G>N | No |
ClinGen Ensembl |
|
|
rs375371471 CA123399974 |
271 | Q>H | No |
ClinGen gnomAD |
|
|
rs1250362150 CA360545868 |
274 | A>V | No |
ClinGen gnomAD |
|
|
rs746583452 CA360545861 |
276 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3345679 rs746583452 |
276 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3345678 COSM3735680 rs777408822 COSM3735681 |
276 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA123399973 rs868189017 |
278 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs551791227 CA3345677 |
278 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA123399972 CA360545841 COSM250800 rs111625916 |
280 | G>R | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs766634369 CA3345648 |
281 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs918310021 CA123392876 |
283 | D>H | No |
ClinGen TOPMed |
|
|
rs1262605280 CA360543089 |
285 | Y>H | No |
ClinGen gnomAD |
|
|
COSM1439234 rs200080797 CA3345646 |
286 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA3345644 rs374805628 |
291 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA917531640 rs1561915043 |
292 | G>E | No |
ClinGen Ensembl |
|
|
rs775296758 CA3345643 |
292 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs765283867 CA3345642 |
295 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3345641 rs759377581 |
297 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA360542991 rs1227828983 |
299 | K>E | No |
ClinGen gnomAD |
|
|
rs776538921 CA3345640 |
299 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA3345638 rs746687429 |
300 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404876263 CA360542977 |
301 | I>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs772947808 COSM1487046 CA3345637 |
301 | I>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA360542976 rs1404876263 |
301 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA360542968 rs1390962057 |
302 | H>Q | No |
ClinGen gnomAD |
|
|
rs771718509 CA3345636 |
302 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360542947 rs1190622682 |
305 | L>R | No |
ClinGen gnomAD |
|
|
CA360542945 rs1442818734 |
306 | N>H | No |
ClinGen gnomAD |
|
|
rs1242584371 CA360542932 |
307 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 307 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1695966 CA360542894 rs1184193875 |
310 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA123392874 rs988468779 |
313 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1248154441 CA360542832 |
314 | C>Y | No |
ClinGen gnomAD |
|
|
rs371246790 CA3345634 |
315 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3345632 rs749731602 |
317 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769258112 CA3345633 |
317 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1242498061 CA360542779 |
318 | D>E | No |
ClinGen TOPMed |
|
|
CA360542785 rs1276283025 |
318 | D>G | No |
ClinGen gnomAD |
|
|
rs1178686916 CA360542792 |
318 | D>N | No |
ClinGen TOPMed |
|
|
CA3345631 rs780498932 |
320 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA360542744 rs1035878679 |
321 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA123392873 rs1035878679 |
321 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA123392872 rs1002641695 |
323 | P>A | No |
ClinGen TOPMed |
|
|
CA3345628 rs781326785 |
323 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1371439187 CA360542697 |
324 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs374701590 CA3345626 |
325 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA3345625 rs764058261 |
326 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360542654 rs1384753672 |
327 | K>N | No |
ClinGen gnomAD |
|
|
CA360546678 rs1223175081 |
328 | V>I | No |
ClinGen gnomAD |
|
|
CA360546661 rs1405375638 |
330 | D>G | No |
ClinGen TOPMed |
|
|
rs1439656959 CA360546644 |
332 | D>V | No |
ClinGen gnomAD |
|
|
CA360546647 rs1180031705 |
332 | D>Y | No |
ClinGen gnomAD |
|
|
rs1330340732 CA360546606 |
338 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1290608933 CA360546584 |
340 | M>I | No |
ClinGen gnomAD |
|
|
rs775002256 CA3345609 |
342 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs937844723 CA123391747 |
346 | D>N | No |
ClinGen TOPMed |
|
|
CA123391746 rs937844723 |
346 | D>Y | No |
ClinGen TOPMed |
|
|
CA360546534 COSM4006081 rs1343571012 COSM1754368 |
349 | Q>* | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA123391516 rs914526220 |
355 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1167528306 CA360546471 |
356 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA123391514 rs933102624 |
357 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3345592 rs777016909 |
357 | D>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1359592236 CA360546450 |
359 | T>I | No |
ClinGen gnomAD |
|
|
rs1359592236 CA360546452 |
359 | T>N | No |
ClinGen gnomAD |
|
|
CA3345591 rs771240726 |
359 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs777799683 CA3345589 |
361 | T>A | No |
ClinGen ExAC |
|
|
CA3345588 rs758508101 |
361 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA360546414 rs1393239518 |
365 | P>L | No |
ClinGen TOPMed |
|
|
rs748240634 CA3345587 |
365 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs149157270 CA3345586 |
369 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA123391512 rs921681709 |
370 | H>D | No |
ClinGen gnomAD |
|
|
rs779224590 CA123391511 |
370 | H>R | No |
ClinGen gnomAD |
|
|
CA3345585 rs369614907 |
372 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360546370 rs369614907 |
372 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1217235276 CA360546356 |
374 | I>N | No |
ClinGen Ensembl |
|
|
CA3345584 rs750346419 |
375 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs767443659 CA3345583 |
376 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA360546332 rs1212617445 |
378 | S>A | No |
ClinGen gnomAD |
|
|
CA360546313 rs1274146434 |
381 | L>F | No |
ClinGen gnomAD |
|
|
CA3345580 rs763722969 |
383 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1344476079 CA360546298 |
384 | K>Q | No |
ClinGen gnomAD |
|
|
rs867190229 CA123391510 |
385 | E>* | No |
ClinGen Ensembl |
|
|
CA3345578 rs775027596 |
386 | G>E | No |
ClinGen ExAC |
|
|
rs1379723466 CA360546249 |
391 | V>M | No |
ClinGen gnomAD |
|
|
CA3345559 rs752302604 |
392 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA360546223 rs1302014880 |
393 | M>T | No |
ClinGen gnomAD |
|
|
CA360546208 rs1457936089 COSM1487045 |
395 | M>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA123390689 rs991447897 |
395 | M>T | No |
ClinGen TOPMed |
|
|
rs758988091 CA3345557 |
396 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3345556 rs777127080 |
398 | S>G | No |
ClinGen ExAC TOPMed |
|
|
rs1017772203 CA123390688 |
398 | S>T | No |
ClinGen Ensembl |
|
|
rs1429673157 CA360546179 |
399 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA360546150 rs1417843520 |
403 | S>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 407 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754619755 CA3345539 |
410 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753402537 CA3345538 |
411 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3345534 rs200188662 |
412 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3345533 rs200188662 |
412 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3345535 rs372316301 |
412 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM3766861 rs904209585 COSM3766862 CA123389858 |
414 | S>F | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs774855435 CA3345532 |
415 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1316747303 CA360545745 |
417 | S>F | No |
ClinGen gnomAD |
|
|
rs1321221117 CA360545734 |
419 | K>T | No |
ClinGen gnomAD |
|
|
CA3345530 rs763247597 |
422 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1561866069 CA360545704 |
423 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 423 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292846040 CA360545707 |
423 | W>S | No |
ClinGen gnomAD |
|
|
rs779690524 CA3345501 |
425 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs376449269 CA3345498 |
426 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360545678 rs1483139779 |
426 | C>G | No |
ClinGen gnomAD |
|
|
rs145487587 CA3345497 COSM1439233 |
427 | G>S | Variant assessed as Somatic; 0.0001386 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs965724277 CA123389171 |
428 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs568857146 CA3345495 |
428 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758727332 CA3345494 |
429 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs547748941 CA123389170 |
430 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547748941 CA3345493 |
430 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333788430 CA360545656 |
430 | A>S | No |
ClinGen gnomAD |
|
|
CA360545652 rs1409452211 |
431 | L>F | No |
ClinGen gnomAD |
|
|
CA123389169 rs986160855 |
435 | G>S | No |
ClinGen gnomAD |
|
|
rs139852488 CA3345491 |
438 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147470115 CA3345490 |
438 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs546435372 CA3345488 |
440 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1158274085 CA360545590 |
441 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA360545582 rs1410027925 |
442 | Q>R | No |
ClinGen TOPMed |
|
|
CA3345487 rs370326051 |
447 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1472726888 CA360545520 |
450 | Q>H | No |
ClinGen gnomAD |
|
|
CA360545489 rs1330261898 |
453 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3345475 rs779125109 |
456 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA3345474 rs755266242 |
457 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760682149 CA3345471 |
457 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760682149 CA3345472 |
457 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760682149 CA3345473 |
457 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360545460 rs1319833767 |
458 | L>Q | No |
ClinGen gnomAD |
|
|
CA3345468 rs374837593 |
459 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA360545446 rs1413610000 |
460 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 460 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3345466 rs541358735 |
461 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1447160436 CA360545430 |
463 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs370579973 COSM1071328 CA3345464 |
465 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3345463 rs770565652 |
468 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA360545377 rs149743432 |
471 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149743432 CA3345461 |
471 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360545366 rs1442101329 |
472 | V>G | No |
ClinGen gnomAD |
|
|
rs1296880565 CA360545333 |
477 | I>T | No |
ClinGen gnomAD |
|
|
CA360545329 rs1581321208 |
478 | E>Q | No |
ClinGen Ensembl |
|
|
CA3345457 rs755240807 |
480 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA3345456 rs754065472 |
485 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1484497746 CA360545256 |
488 | N>S | No |
ClinGen gnomAD |
|
|
rs756317098 CA3345454 |
489 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360545232 rs1427351043 |
492 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA360545219 rs1329221356 |
493 | P>L | No |
ClinGen TOPMed |
|
|
rs1450694472 CA360545208 |
495 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1581320847 CA360545200 |
496 | K>R | No |
ClinGen Ensembl |
|
|
rs765091568 CA3345448 |
498 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3345449 rs558503942 |
498 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 500 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3345447 rs759335783 |
500 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3345445 rs770761781 |
501 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3345444 rs576504944 |
503 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1183173527 CA360545101 |
509 | M>L | No |
ClinGen gnomAD |
|
|
rs898377442 CA123388308 |
511 | K>E | No |
ClinGen Ensembl |
|
|
CA360545078 rs1421107756 |
512 | T>M | No |
ClinGen gnomAD |
|
|
CA360545045 rs1254393498 |
517 | W>R | No |
ClinGen TOPMed |
|
|
rs749767448 CA3345415 |
518 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA3345414 rs775868205 |
520 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1484344201 CA360545011 |
521 | F>S | No |
ClinGen TOPMed |
|
|
CA360545004 rs1182697307 |
522 | D>A | No |
ClinGen TOPMed |
|
|
rs746106344 CA3345411 |
524 | H>Y | No |
ClinGen ExAC TOPMed |
|
|
CA3345410 rs781201965 |
525 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA3345409 rs757495107 |
526 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360544977 rs757495107 |
526 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360544973 rs1173313764 |
527 | E>K | No |
ClinGen TOPMed |
|
|
CA360544944 rs1310059073 |
531 | G>R | No |
ClinGen gnomAD |
|
|
rs376116779 CA3345408 |
531 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
| rs749032818 | 531 | G>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150590099 CA3345405 |
533 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3345403 rs766297328 |
534 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 534 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388455952 CA360544912 |
536 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3345400 rs767133968 |
538 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1300341886 CA360544887 |
539 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 541 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773776824 CA3345398 |
545 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1561841212 CA360544836 |
546 | D>E | No |
ClinGen Ensembl |
|
|
CA360543699 rs1581227217 |
552 | C>G | No |
ClinGen Ensembl |
|
|
rs1377478604 CA360543688 |
552 | C>W | No |
ClinGen gnomAD |
|
|
rs760063509 CA3345363 |
554 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1397239160 CA360543651 |
555 | D>A | No |
ClinGen gnomAD |
|
|
CA123386787 rs998582409 |
555 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA360543612 rs1197773929 |
558 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1255962539 CA360543608 |
559 | L>F | No |
ClinGen TOPMed |
|
|
CA360543585 rs1456265124 |
561 | R>T | No |
ClinGen gnomAD |
|
|
CA3345360 rs760827846 |
563 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs907060252 CA123386786 |
564 | T>A | No |
ClinGen Ensembl |
|
|
CA3345359 rs766201019 |
564 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3345357 rs748296377 |
566 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 569 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 570 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 570 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198151863 CA360543469 |
572 | E>A | No |
ClinGen gnomAD |
|
|
CA360543457 rs745780744 |
573 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 576 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234247042 CA360543433 |
577 | H>P | No |
ClinGen gnomAD |
|
|
CA360543429 rs141720925 |
577 | H>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1477331534 CA360543425 |
578 | L>M | No |
ClinGen TOPMed |
|
|
CA3345352 rs757024330 |
586 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1581226707 CA360543319 |
587 | S>P | No |
ClinGen Ensembl |
|
|
rs1330965793 CA360543302 |
588 | A>D | No |
ClinGen gnomAD |
|
|
rs1398621300 CA360543291 |
589 | T>R | No |
ClinGen TOPMed |
|
|
rs1389890247 CA360543284 |
590 | V>G | No |
ClinGen gnomAD |
|
|
rs1056575529 CA123386782 |
592 | I>V | No |
ClinGen TOPMed |
|
|
rs373064995 CA3345349 |
593 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360543260 rs1157966189 |
594 | D>G | No |
ClinGen gnomAD |
|
|
CA360543253 rs1263752354 |
595 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 595 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3345348 rs773498782 |
597 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA3345347 rs764692738 |
598 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA123386781 rs939494235 |
598 | N>Y | No |
ClinGen TOPMed |
|
|
rs754319516 CA3345345 |
603 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA3345344 rs200393152 |
605 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA3345343 rs146206373 |
606 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141689023 CA3345341 |
606 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 607 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561817382 CA360543181 |
607 | E>Q | No |
ClinGen Ensembl |
|
|
rs774605898 CA3345339 |
608 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA3345338 rs138523205 |
609 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs9885412 CA3345336 VAR_033189 |
612 | R>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA123386780 rs914237966 |
612 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1561817280 CA917531875 |
613 | Y>* | No |
ClinGen Ensembl |
|
|
rs1236480646 CA360542904 |
615 | P>S | No |
ClinGen gnomAD |
|
|
rs1362916555 CA360542896 |
616 | L>M | No |
ClinGen gnomAD |
|
|
rs774659346 CA3345322 |
618 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA360542825 COSM738894 rs1346692237 |
620 | H>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs763163641 CA3345320 |
621 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA123386212 rs375290165 |
621 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs868408460 CA360542783 |
624 | D>H | No |
ClinGen gnomAD |
|
|
rs868408460 CA123386211 |
624 | D>N | No |
ClinGen gnomAD |
|
|
rs775415507 CA3345319 |
625 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 628 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581201259 CA360542679 |
632 | V>D | No |
ClinGen Ensembl |
|
|
rs373252773 CA123386210 |
632 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA3345318 rs770945467 |
633 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3345315 rs771804520 |
637 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360542630 rs1186399479 |
637 | G>R | No |
ClinGen gnomAD |
|
|
rs1244130434 CA360542612 |
639 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs778561506 CA3345313 |
641 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778561506 CA123386209 |
641 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17084201 CA360542593 |
642 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1581201026 CA360542596 |
642 | D>G | No |
ClinGen Ensembl |
|
|
rs748879228 CA3345311 |
642 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs748879228 CA360542598 |
642 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA360542588 rs1581200957 |
643 | V>G | No |
ClinGen Ensembl |
|
|
CA3345309 rs756721965 |
643 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360544785 rs1387191781 |
646 | K>E | No |
ClinGen TOPMed |
|
|
CA360544778 rs1349412733 |
647 | S>G | No |
ClinGen gnomAD |
|
|
rs1298238179 CA360544761 |
649 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA360544762 rs1298238179 |
649 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3345294 rs371437740 |
651 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1356757972 CA360544738 |
652 | V>A | No |
ClinGen gnomAD |
|
|
CA360544711 rs1242125799 |
656 | N>K | No |
ClinGen TOPMed |
|
|
rs746384830 CA3345290 |
656 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3345288 rs757830060 |
658 | D>N | No |
ClinGen ExAC TOPMed |
|
|
rs867974286 CA123384737 |
665 | V>I | No |
ClinGen Ensembl |
|
|
CA3345286 rs777965739 |
668 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1251648368 CA360544629 |
669 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs758675904 CA3345285 |
670 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3345283 rs765313289 |
672 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs752810491 CA3345284 |
672 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs865783622 CA123384734 |
675 | K>E | No |
ClinGen Ensembl |
|
|
CA3345280 rs767500647 |
676 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3345281 rs374050117 |
676 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142518982 CA3345279 |
678 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752966281 CA3345262 |
679 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA360544543 rs1384947539 |
680 | N>H | No |
ClinGen TOPMed |
|
|
CA123384559 rs115666661 |
680 | N>K | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1423140038 CA360544528 |
682 | K>* | No |
ClinGen TOPMed |
|
| TCGA novel | 683 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA123384558 rs376963945 |
683 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs902992073 CA123384557 |
684 | I>T | No |
ClinGen gnomAD |
|
|
rs868868489 CA123384556 |
686 | S>L | No |
ClinGen Ensembl |
|
|
CA561343951 rs1289673834 |
687 | V>N | No |
ClinGen gnomAD |
|
|
CA360544488 rs1455539390 |
688 | L>F | No |
ClinGen gnomAD |
|
|
CA123384555 rs775657536 |
692 | V>I | No |
ClinGen Ensembl |
|
|
rs755178876 CA3345260 |
693 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 694 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360544436 rs1366806004 |
696 | D>N | No |
ClinGen TOPMed |
|
|
rs766406559 CA3345259 |
697 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3345257 rs751453366 |
697 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1695964 rs766406559 CA3345258 |
697 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs751396813 CA3345256 COSM1071323 |
699 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs145448158 CA3345255 COSM1214748 |
699 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3345254 rs375403332 |
700 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360544403 rs1210937356 |
701 | A>V | No |
ClinGen gnomAD |
|
|
rs766285801 CA123384554 |
706 | K>T | No |
ClinGen Ensembl |
|
|
CA360544368 rs1283108780 |
707 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 707 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380220502 CA360544360 |
708 | A>S | No |
ClinGen TOPMed |
|
|
CA3345253 rs775345590 |
709 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs765035181 CA3345252 |
710 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1353763415 CA360544332 |
713 | S>P | No |
ClinGen gnomAD |
|
|
rs1048885823 CA123384521 |
715 | Q>E | No |
ClinGen Ensembl |
|
|
rs922397964 CA123384520 |
715 | Q>R | No |
ClinGen TOPMed |
|
| rs1561780523 | 717 | G>S | No | Ensembl | |
|
rs1467419550 CA360544286 |
718 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3345219 rs781305620 |
718 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360544280 rs1417597806 |
719 | Q>K | No |
ClinGen TOPMed |
|
|
CA360544262 rs1256568946 |
721 | A>D | No |
ClinGen gnomAD |
|
|
CA3345218 rs758294538 |
721 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1277890668 CA360544248 |
723 | V>D | No |
ClinGen gnomAD |
|
|
rs371946729 CA3345216 |
723 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1238456106 CA360544246 |
724 | L>M | No |
ClinGen gnomAD |
|
|
CA360544245 rs1238456106 |
724 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 726 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3345215 rs754751426 |
728 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs754751426 CA360544212 |
728 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA360544202 rs1438622173 |
730 | T>A | No |
ClinGen gnomAD |
|
|
rs550941007 CA3345213 |
730 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360544176 rs1326312812 |
734 | K>R | No |
ClinGen gnomAD |
|
|
rs1462731222 CA360544171 |
735 | G>R | No |
ClinGen gnomAD |
|
|
rs760351773 CA3345212 |
736 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs977067020 CA360544151 |
738 | Y>C | No |
ClinGen TOPMed |
|
|
rs977067020 CA360544150 |
738 | Y>F | No |
ClinGen TOPMed |
|
|
rs977067020 CA123384518 |
738 | Y>S | No |
ClinGen TOPMed |
|
|
CA360544138 rs1297143962 |
740 | E>A | No |
ClinGen TOPMed |
|
|
rs749941091 CA3345211 |
741 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1181130117 CA360544121 |
742 | D>E | No |
ClinGen gnomAD |
|
|
CA123384517 rs531243750 |
742 | D>Y | No |
ClinGen 1000Genomes |
|
|
CA360544113 rs368220274 |
744 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3345209 rs368220274 |
744 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA360544099 rs1393733616 |
746 | N>D | No |
ClinGen TOPMed |
|
|
CA123384516 rs940049085 |
746 | N>T | No |
ClinGen TOPMed |
|
|
CA360544092 rs1561780009 |
747 | A>P | No |
ClinGen Ensembl |
|
|
rs755753636 CA3345194 |
748 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1192821514 CA360544046 |
752 | L>* | No |
ClinGen gnomAD |
|
|
rs1447777012 CA360544043 |
752 | L>F | No |
ClinGen gnomAD |
|
|
rs766942058 CA3345192 |
753 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs202198042 CA3345191 |
753 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA123384478 rs925692989 |
756 | I>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 757 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360543994 rs1280977249 |
760 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 761 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360543973 rs1343838839 |
763 | I>V | No |
ClinGen TOPMed |
|
|
CA3345189 rs764631838 |
765 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs868152630 CA123384476 |
766 | E>K | No |
ClinGen Ensembl |
|
|
CA360543943 rs1359684006 |
767 | N>H | No |
ClinGen gnomAD |
|
|
rs1269360990 CA360543939 |
767 | N>I | No |
ClinGen gnomAD |
|
|
rs763415705 CA3345188 |
772 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 779 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360543836 rs1413714236 |
781 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1413714236 CA360543835 |
781 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3345173 rs780954519 |
783 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750805434 CA3345171 |
784 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360543809 rs1353302095 |
785 | V>I | No |
ClinGen gnomAD |
|
|
CA360543798 rs1328714205 |
786 | M>I | No |
ClinGen gnomAD |
|
|
rs905396755 CA360543781 |
789 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs905396755 CA123384302 |
789 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs148723280 CA360543747 |
794 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148723280 CA3345169 |
794 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765527734 CA123384301 |
795 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3345167 rs765527734 |
795 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs4133735 CA123384300 |
797 | S>I | No |
ClinGen Ensembl |
|
|
CA3345166 rs760386926 |
802 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232256719 CA360543635 |
804 | P>L | No |
ClinGen gnomAD |
|
|
CA123384298 rs868545641 |
806 | R>M | No |
ClinGen Ensembl |
|
|
CA3345165 rs776849586 |
806 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA3345164 rs766758217 |
807 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA3345163 rs760949215 |
807 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA123384297 rs891042507 |
808 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775564022 CA3345159 |
809 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3345160 rs775564022 |
809 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1361567065 | 813 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380791919 CA360542566 |
813 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 815 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3345140 rs189323240 |
816 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 817 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs952039407 CA123377071 |
818 | V>G | No |
ClinGen Ensembl |
|
|
CA360542525 rs1454279425 COSM1695963 |
819 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3345138 rs776428430 |
821 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA123377070 rs373572143 |
822 | E>K | No |
ClinGen ESP TOPMed |
|
|
CA360542495 rs1468965756 |
823 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 825 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561656102 CA360542427 |
833 | L>Q | No |
ClinGen Ensembl |
|
|
rs1405306799 CA360542415 |
835 | T>S | No |
ClinGen TOPMed |
|
|
COSM1071319 rs1324389041 CA360542385 |
839 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs972292230 CA123377067 |
840 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA360542371 rs746672415 |
841 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA3345135 rs746672415 |
841 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 842 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777472417 CA3345134 |
842 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3345133 rs747746224 |
846 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1396866536 CA360542340 |
846 | D>Y | No |
ClinGen TOPMed |
|
|
rs1484406788 CA360542333 |
847 | N>D | No |
ClinGen gnomAD |
|
|
rs866642399 CA123377065 |
848 | R>K | No |
ClinGen Ensembl |
|
|
rs144106740 COSM1439230 CA3345130 |
850 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs781178239 CA123377064 |
850 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781178239 CA3345129 |
850 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3345131 rs144106740 |
850 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1258245389 CA360542305 |
851 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA360542306 rs1258245389 |
851 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3345127 rs756614065 |
852 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs540042983 CA3345107 |
853 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360542279 rs1459581882 |
854 | V>M | No |
ClinGen gnomAD |
|
|
CA360542273 rs1163423112 |
855 | E>K | No |
ClinGen gnomAD |
|
|
rs757519386 CA360542257 |
857 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs757519386 CA3345105 |
857 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3345104 rs751671261 |
858 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs912971726 CA123374958 |
859 | E>Q | No |
ClinGen Ensembl |
|
|
rs557520898 CA3345102 |
861 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360542222 rs1193340801 |
862 | E>Q | No |
ClinGen TOPMed |
|
|
rs766151851 CA3345101 |
863 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs766355565 CA3345100 |
864 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA123374957 rs938348209 |
864 | E>D | No |
ClinGen TOPMed |
|
|
CA123374956 rs199678582 |
865 | D>N | No |
ClinGen ESP TOPMed |
|
|
rs1358640966 CA360542193 |
866 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA123374955 rs139301276 |
866 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3345098 rs538385044 |
866 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA123374954 rs1003855459 |
868 | D>V | No |
ClinGen TOPMed |
|
|
rs886843126 CA123374953 |
869 | D>E | No |
ClinGen TOPMed |
|
|
rs1238303695 CA360542166 |
870 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA360447672 rs1223456623 |
871 | D>N | No |
ClinGen TOPMed |
|
|
CA360447616 rs1561515383 |
875 | K>N | No |
ClinGen Ensembl |
|
|
rs746325571 CA3345087 |
877 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937330396 CA122839871 |
879 | N>H | No |
ClinGen gnomAD |
|
|
rs1317142465 CA360447576 |
879 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs867441909 CA122839869 |
880 | K>R | No |
ClinGen Ensembl |
|
|
rs781627870 CA3345086 |
881 | I>V | No |
ClinGen ExAC |
|
|
rs367985903 CA122839866 |
882 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs747391725 CA3345084 |
883 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3345083 rs777918834 |
888 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs568001779 CA3345082 |
889 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360447472 rs1240601955 |
894 | I>T | No |
ClinGen gnomAD |
|
|
rs891881182 CA122839799 |
902 | G>S | No |
ClinGen Ensembl |
|
|
COSM312800 CA360447417 rs1485288169 |
903 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs2637 CA122839787 |
904 | R>W | No |
ClinGen Ensembl |
|
|
CA360447397 rs2636 |
905 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3345077 rs767350375 |
906 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 906 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754984567 CA3345060 |
909 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 911 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 911 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753948823 CA3345059 |
913 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402690118 CA360446870 |
913 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs376479007 CA3345058 |
914 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3345057 rs757186726 |
917 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs866594722 CA122836420 |
917 | S>T | No |
ClinGen Ensembl |
|
| TCGA novel | 920 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3345056 rs751339830 |
921 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA360446739 rs751339830 |
921 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA3345055 rs763931297 |
922 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759171304 CA3345051 |
927 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1173100727 CA360446587 |
929 | A>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 929 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173100727 CA360446583 |
929 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1179054623 CA360446581 |
930 | I>V | No |
ClinGen gnomAD |
|
|
CA122836376 rs903351924 |
931 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360446571 rs1458887950 |
931 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1409862592 CA360446549 |
933 | C>R | No |
ClinGen TOPMed |
|
|
rs761206341 CA3345048 |
933 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA3345046 rs772366855 |
933 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs761206341 CA122836373 |
933 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 934 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291376140 CA360446533 |
934 | I>T | No |
ClinGen gnomAD |
|
|
CA360446538 rs1195247646 |
934 | I>V | No |
ClinGen gnomAD |
|
|
CA3345045 rs748374848 |
935 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA360446495 rs1448005246 |
938 | Y>C | No |
ClinGen gnomAD |
|
|
rs768842714 COSM1071316 CA3345043 |
939 | I>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1379496671 CA360446488 |
939 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 946 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360446117 rs1184339665 |
946 | N>S | No |
ClinGen gnomAD |
|
|
rs1487717050 CA360446059 |
949 | T>I | No |
ClinGen gnomAD |
|
|
rs1479713978 CA360446074 |
949 | T>S | No |
ClinGen Ensembl |
|
|
CA360446026 rs1218043678 |
951 | K>N | No |
ClinGen gnomAD |
|
|
CA3345020 rs749475740 |
952 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA3345021 rs768897660 |
952 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1233011593 CA360446011 |
953 | R>Q | No |
ClinGen gnomAD |
|
|
rs377276888 CA3345018 |
953 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs1303683134 CA360446002 |
954 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360445995 rs1217027781 |
955 | P>L | No |
ClinGen gnomAD |
|
|
CA3345016 rs141609728 |
956 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs35027175 CA122834346 |
957 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3345015 rs745929131 |
958 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA360445972 rs1276540601 |
959 | D>G | No |
ClinGen TOPMed |
|
|
rs528477568 CA3345013 |
962 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360445938 rs1223042660 |
964 | L>F | No |
ClinGen Ensembl |
|
|
CA3345012 rs372860530 |
964 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1167959744 CA360445896 |
970 | V>A | No |
ClinGen gnomAD |
|
|
rs566033810 CA3345010 |
973 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360445874 rs765812489 |
974 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs765812489 CA3345008 |
974 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3345006 rs768051059 |
976 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs768051059 CA3345005 |
976 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs749965327 CA3344984 |
980 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306923738 CA360445821 |
980 | Q>R | No |
ClinGen gnomAD |
|
|
rs757774322 CA3344982 |
981 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3344983 rs766963057 |
981 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3344979 rs147989620 |
985 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA122833541 rs775693281 |
988 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1458951104 CA360445764 |
989 | S>C | No |
ClinGen gnomAD |
|
|
CA360445757 rs1373525409 |
990 | P>S | No |
ClinGen gnomAD |
|
|
CA3344975 rs776875043 |
991 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA3344976 rs143384257 |
991 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3344977 rs186381951 |
991 | Y>H | No |
ClinGen 1000Genomes ExAC |
|
|
rs771080657 CA3344974 |
993 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 993 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 994 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561498467 CA360445708 |
995 | K>E | No |
ClinGen Ensembl |
|
|
CA122833505 rs79775396 |
997 | N>S | No |
ClinGen Ensembl |
|
|
CA3344970 rs768467284 |
998 | L>V | No |
ClinGen ExAC gnomAD |
No associated diseases with Q6DN14
No regional properties for Q6DN14
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q6DN14 | |||
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| recycling endosome | An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane. |
| synaptic vesicle membrane | The lipid bilayer surrounding a synaptic vesicle. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions. |
| negative regulation of cell migration | Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. |
| negative regulation of endocytosis | Any process that stops, prevents, or reduces the frequency, rate or extent of endocytosis. |
| negative regulation of response to oxidative stress | Any process that stops, prevents or reduces the frequency, rate or extent of response to oxidative stress. |
| regulation of neuronal synaptic plasticity | A process that modulates neuronal synaptic plasticity, the ability of neuronal synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers. |
| regulation of neurotransmitter secretion | Any process that modulates the frequency, rate or extent of the regulated release of a neurotransmitter from a cell. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9NZM1 | MYOF | Myoferlin | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEPRAAAAGE | PEPPAASSSF | QARLWKNLQL | GVGRSKGGGG | GRAGGPERRT | ADTPSPSPPP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PVGTGNAPAR | GSGAGSRWSG | FKKRKQVLDR | VFSSSQPNLC | CSSPEPLEPG | GAGRAEQGST |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LRRRIREHLL | PAVKGPAAAS | GAAGGTPPGG | RSPDSAPSSS | SASSSLSSSP | QPPPRGDRAR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DEGARRQGPG | AHLCHQKSSS | LPGTACLEQL | LEPPPPPAEP | ARSPAESRAP | ETGEEHGSSQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KIINTAGTSN | AEVPLADPGM | YQLDITLRRG | QSLAARDRGG | TSDPYVKFKI | GGKEVFRSKI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IHKNLNPVWE | EKACILVDHL | REPLYIKVFD | YDFGLQDDFM | GSAFLDLTQL | ELNRPTDVTL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TLKDPHYPDH | DLGIILLSVI | LTPKEGESRD | VTMLMRKSWK | RSSKELSENE | VVGSYFSVKS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LFWRTCGRPA | LPVLGFCRAE | LQNPYCKNVQ | FQTQSLRLSD | LHRKSHLWRG | IVSITLIEGR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DLKAMDSNGL | SDPYVKFRLG | HQKYKSKIMP | KTLNPQWREQ | FDFHLYEERG | GVIDITAWDK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DAGKRDDFIG | RCQVDLSALS | REQTHKLELQ | LEEGEGHLVL | LVTLTASATV | SISDLSVNSL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EDQKEREEIL | KRYSPLRIFH | NLKDVGFLQV | KVIRAEGLMA | ADVTGKSDPF | CVVELNNDRL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LTHTVYKNLN | PEWNKVFTFN | IKDIHSVLEV | TVYDEDRDRS | ADFLGKVAIP | LLSIQNGEQK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| AYVLKNKQLT | GPTKGVIYLE | IDVIFNAVKA | SLRTLIPKEQ | KYIEEENRLS | KQLLLRNFIR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| MKRCVMVLVN | AAYYVNSCFD | WDSPPRSLAA | FVLFLFVVWN | FELYMIPLVL | LLLLTWNYFL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| IISGKDNRQR | DTVVEDMLED | EEEEDDKDDK | DSEKKGFINK | IYAIQEVCVS | VQNILDEVAS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| FGERIKNTFN | WTVPFLSWLA | IVALCVFTAI | LYCIPLRYIV | LVWGINKFTK | KLRSPYAIDN |
| 970 | 980 | 990 | |||
| NELLDFLSRV | PSDVQVVQYQ | ELKPDPSHSP | YKRKKNNLG |