Q9Y5F1
PR
Gene name |
PCDHB12 |
Protein name |
Protocadherin beta-12 |
Names |
PCDH-beta-12 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56124 |
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 Q9Y5F1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y5F1-F1 | Predicted | AlphaFoldDB |
920 variants for Q9Y5F1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs139586852 RCV003215113 CA3463110 COSM109310 |
324 | G>E | skin Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1376252863 CA361433140 |
2 | E>K | No |
ClinGen TOPMed |
|
|
CA361433161 rs1554286559 |
4 | G>V | No |
ClinGen gnomAD |
|
|
CA128434283 rs1001864731 |
6 | A>T | No |
ClinGen Ensembl |
|
|
CA3462894 rs782262049 |
7 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs73791825 CA361433181 |
8 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs73791825 CA3462896 |
8 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1189890630 CA361433194 CA361433195 |
10 | Q>H | No |
ClinGen TOPMed |
|
|
CA3462898 rs549056314 |
11 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361433219 rs1283002332 |
13 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 14 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141753867 CA3462899 |
15 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3462900 rs782247578 |
16 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA361433270 rs782395216 |
16 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA3462901 rs782395216 |
16 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3462902 rs782024199 |
18 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1233305877 CA361433315 |
19 | V>F | No |
ClinGen TOPMed |
|
|
rs782173883 CA3462903 |
20 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs782082200 CA3462906 |
23 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs782765090 CA361433395 |
24 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782765090 CA3462907 |
24 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142953283 CA3462908 |
25 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 25 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142953283 CA361433403 |
25 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3462910 rs551312672 |
29 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1554286572 CA361433475 |
29 | E>Q | No |
ClinGen gnomAD |
|
|
CA361433483 rs551312672 |
29 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1554286574 CA361433511 |
31 | G>A | No |
ClinGen gnomAD |
|
|
rs1554286575 CA361434609 |
34 | L>S | No |
ClinGen gnomAD |
|
| rs781893572 | 34 | L>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3462914 rs782579738 |
35 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1173344679 CA361434635 |
36 | M>L | No |
ClinGen TOPMed |
|
|
CA361434712 rs1554286576 |
40 | Q>E | No |
ClinGen gnomAD |
|
|
rs932582311 CA128435733 |
40 | Q>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 42 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3462916 rs369400969 |
42 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782663218 CA3462917 |
43 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361434789 rs1475397623 |
44 | F>V | No |
ClinGen TOPMed |
|
|
rs782279808 CA3462918 |
46 | G>E | No |
ClinGen ExAC |
|
| TCGA novel | 47 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554286578 CA361434850 |
48 | L>V | No |
ClinGen gnomAD |
|
|
CA3462919 rs782427257 |
49 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3462922 rs373620363 |
53 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3462924 rs781971006 |
54 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA361434936 rs1209841301 |
55 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1209841301 CA361434938 |
55 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA361434955 rs1554286580 |
56 | V>E | No |
ClinGen gnomAD |
|
| TCGA novel | 56 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3462926 rs782381535 |
57 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs782381535 CA361434969 |
57 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1563976052 CA361434976 |
58 | E>K | No |
ClinGen Ensembl |
|
|
rs781803373 CA3462931 |
62 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781803373 CA361435032 |
62 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782691165 CA3462930 COSM1434279 |
62 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
rs1312519126 CA361435046 |
63 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs782740286 CA361435042 |
63 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312519126 CA361435051 |
63 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3462933 rs782740286 |
63 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782766565 | 64 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3381135 CA361435071 rs1409881357 |
64 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1163263707 CA361435087 |
65 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
COSM322529 rs1163263707 CA361435085 |
65 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs376801357 CA361435082 |
65 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1588385115 CA361435123 |
67 | V>A | No |
ClinGen Ensembl |
|
|
rs1554286591 CA361435143 |
69 | N>H | No |
ClinGen gnomAD |
|
|
rs1037078489 CA128435804 |
70 | D>E | No |
ClinGen Ensembl |
|
|
rs782460536 CA3462939 |
71 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs145009914 CA3462940 |
71 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA361435197 rs1554286595 |
72 | K>E | No |
ClinGen gnomAD |
|
|
rs782237086 CA3462941 |
72 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 73 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782379709 CA3462942 |
73 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253706651 CA361435241 |
74 | C>G | No |
ClinGen TOPMed |
|
|
rs200614316 CA3462943 |
74 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437105009 CA361435262 |
75 | L>W | No |
ClinGen TOPMed |
|
|
rs371452944 CA3462944 |
76 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA361435297 rs1554286599 |
78 | D>N | No |
ClinGen gnomAD |
|
|
CA361435328 rs533812295 |
79 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3462947 rs533812295 |
79 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1290515676 CA361435318 |
79 | T>P | No |
ClinGen TOPMed |
|
|
CA3462946 rs533812295 |
79 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3462948 rs782343583 |
80 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332733932 CA361435379 |
83 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3462952 rs781905737 |
87 | R>K | No |
ClinGen ExAC |
|
|
rs1554286606 CA361435460 |
88 | E>Q | No |
ClinGen gnomAD |
|
|
rs1229235707 CA361435489 |
89 | M>T | No |
ClinGen TOPMed |
|
|
CA3462954 rs782728381 |
91 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA361435532 rs1554286608 |
92 | R>G | No |
ClinGen gnomAD |
|
|
CA361435537 rs1563976300 |
92 | R>K | No |
ClinGen Ensembl |
|
|
CA361435533 rs1554286608 |
92 | R>W | No |
ClinGen gnomAD |
|
|
rs1352623002 CA361435558 |
93 | E>G | No |
ClinGen TOPMed |
|
|
rs1554286609 CA361435583 |
94 | E>G | No |
ClinGen gnomAD |
|
|
CA361435591 rs1554286611 |
95 | L>F | No |
ClinGen gnomAD |
|
|
rs1286783070 CA361435610 |
96 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3462956 rs782493872 |
96 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA361435646 rs1554286613 |
99 | N>H | No |
ClinGen gnomAD |
|
|
CA361435659 rs1554286614 |
99 | N>K | No |
ClinGen gnomAD |
|
|
rs1554286615 CA361435680 |
100 | E>D | No |
ClinGen gnomAD |
|
|
CA361435683 rs782641033 |
101 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3462957 rs782641033 |
101 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA361435733 rs1441936667 |
104 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs374565539 CA128435840 |
107 | Q>L | No |
ClinGen ESP |
|
|
CA3462960 rs782666772 |
108 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3462959 rs199578268 |
108 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782321993 CA3462962 |
110 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3462961 rs200930526 |
110 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs187438401 CA3462964 |
111 | K>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3462963 rs187438401 |
111 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1588385324 CA361435873 |
112 | N>K | No |
ClinGen Ensembl |
|
|
CA361435884 rs1163666647 |
113 | P>R | No |
ClinGen TOPMed |
|
|
rs782372730 CA3462965 |
113 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3462966 rs143200514 |
114 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1567408 rs143200514 CA361435902 |
114 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA3462968 rs199513227 |
115 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370078922 CA128435874 |
116 | F>V | No |
ClinGen Ensembl |
|
|
rs368188986 CA3462969 |
117 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868907882 CA361436012 |
121 | L>F | No |
ClinGen Ensembl |
|
|
CA361436025 rs1554286627 |
122 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1554286626 CA361436022 |
122 | Q>R | No |
ClinGen gnomAD |
|
|
CA361436027 rs1247115060 |
123 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs782745558 CA3462971 |
125 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3462972 rs138927056 |
126 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361436056 rs1272612631 |
127 | N>S | No |
ClinGen TOPMed |
|
|
CA361436064 rs1554286630 |
128 | D>G | No |
ClinGen gnomAD |
|
|
rs782139470 CA3462973 |
131 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1368723176 CA361436104 |
134 | L>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 134 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361436105 rs1368723176 |
134 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA361436117 rs1554286633 |
136 | K>E | No |
ClinGen gnomAD |
|
|
CA361436125 rs1277015765 |
137 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA361436138 rs1554286635 |
138 | M>I | No |
ClinGen gnomAD |
|
|
CA361436136 rs1554286634 |
138 | M>R | No |
ClinGen gnomAD |
|
|
CA361436149 rs1370989807 |
140 | L>* | No |
ClinGen TOPMed |
|
|
rs1554286638 CA361436171 |
143 | P>T | No |
ClinGen gnomAD |
|
|
rs782720205 CA3462977 |
144 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 144 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361436182 rs1554286641 |
145 | N>D | No |
ClinGen gnomAD |
|
|
rs782631623 CA3462981 |
147 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs782631623 CA3462980 |
147 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs147039082 CA3462979 |
147 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1563976628 CA361436218 COSM283817 |
150 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1390338075 CA361436237 |
153 | L>W | No |
ClinGen TOPMed |
|
|
rs782571607 CA3462984 |
154 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782571607 CA361436241 |
154 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554286648 CA361436251 |
155 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1399792419 CA361436256 |
156 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 157 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3462986 rs200628377 |
157 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781976942 CA361436272 |
158 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 161 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361436297 rs1252301585 |
162 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1466325157 CA361436303 |
163 | G>R | No |
ClinGen TOPMed |
|
|
CA3462989 rs782399712 |
165 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs782162026 CA3462991 |
165 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs782013837 CA3462990 |
165 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554286654 COSM3827085 CA361436326 |
166 | A>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM590323 rs1554286655 CA361436350 |
170 | Y>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1215294541 CA361436359 |
171 | T>S | No |
ClinGen TOPMed |
|
|
CA361436367 rs1554286657 |
172 | I>T | No |
ClinGen gnomAD |
|
|
CA361436375 rs1313067531 |
173 | N>S | No |
ClinGen TOPMed |
|
|
COSM134085 rs1232575709 CA361436382 |
174 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs782080961 CA3462994 |
175 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554286663 CA361436396 |
176 | S>F | No |
ClinGen gnomAD |
|
|
rs781852560 CA3462996 |
177 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554286668 CA361436400 |
177 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361436410 rs1286677357 |
178 | F>L | No |
ClinGen TOPMed |
|
|
rs1363409600 CA361436405 |
178 | F>L | No |
ClinGen TOPMed |
|
|
rs1588385588 CA361436415 |
179 | H>P | No |
ClinGen Ensembl |
|
|
CA3462997 rs200859015 |
179 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781792957 CA3462999 |
180 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1359395188 CA361436435 |
182 | I>T | No |
ClinGen TOPMed |
|
|
CA3463000 rs782457524 |
182 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs782600784 CA3463001 |
183 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs782232097 CA3463002 |
183 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782519313 CA3463003 |
185 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs782519313 CA361436452 |
185 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA3463005 rs782278243 |
187 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361436475 rs138246207 |
188 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3463008 rs782191827 |
192 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 192 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs541337915 CA128436020 |
195 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3463010 rs541337915 |
195 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 196 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3463011 rs782109600 |
198 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1239440858 CA361436683 |
201 | D>G | No |
ClinGen TOPMed |
|
|
rs781793472 CA3463014 |
205 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781793472 CA3463015 |
205 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781824876 CA361436754 |
205 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781824876 CA3463016 |
205 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782101105 CA3463017 |
206 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 206 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128436063 rs371376851 |
207 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371376851 CA3463019 |
207 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782533811 CA3463020 |
208 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3463021 rs782694775 |
209 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1379392155 CA361436823 |
210 | F>I | No |
ClinGen TOPMed |
|
|
rs781783767 CA3463022 |
211 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412595720 CA361436892 |
213 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs782446682 CA3463024 |
213 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs782446682 CA361436884 |
213 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554286680 CA361436908 |
214 | A>V | No |
ClinGen gnomAD |
|
|
rs1554286683 CA361436931 |
216 | D>G | No |
ClinGen Ensembl |
|
|
CA361436923 rs1374595099 |
216 | D>N | No |
ClinGen TOPMed |
|
|
rs1554286684 CA361436944 |
217 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 217 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM590322 CA361436954 rs782228863 CA361436957 |
218 | G>R | Variant assessed as Somatic; 0.0 impact. lung [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3463026 rs782228863 |
218 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554286686 CA361436978 |
219 | S>F | No |
ClinGen gnomAD |
|
|
rs112032947 CA3463027 |
220 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1554286688 CA361436988 |
220 | P>L | No |
ClinGen gnomAD |
|
|
rs112032947 CA361436979 |
220 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361437030 rs1416171179 |
223 | S>A | No |
ClinGen TOPMed |
|
|
rs782638142 CA128436093 |
225 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782638142 CA3463028 |
225 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361437079 rs1554286690 |
226 | A>D | No |
ClinGen gnomAD |
|
|
CA3463029 rs782270097 |
228 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA361437147 rs1475040488 |
230 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA361437137 rs1554286693 |
230 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 231 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782310263 CA3463030 |
231 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463031 rs781943891 |
232 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs782363279 CA3463033 |
234 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3463034 rs781995538 |
235 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554286695 CA361437239 |
236 | N>S | No |
ClinGen gnomAD |
|
|
CA361437238 rs1554286695 |
236 | N>T | No |
ClinGen gnomAD |
|
|
CA361437250 rs1554286696 |
237 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 237 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3463037 rs144863881 |
238 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144863881 CA3463036 |
238 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554286698 CA361437264 |
240 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 240 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3463038 rs139752309 |
241 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3463041 rs781812996 |
242 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463040 rs781812996 |
242 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361437279 rs781812996 |
242 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463042 rs782634812 |
243 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA361437302 rs1563977225 |
245 | A>G | No |
ClinGen Ensembl |
|
|
rs1394204697 CA361437312 |
247 | Y>H | No |
ClinGen TOPMed |
|
|
rs1297564549 CA361437314 |
247 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA128436139 rs267600437 |
248 | E>K | No |
ClinGen Ensembl |
|
|
CA361437341 rs1554286704 |
251 | I>V | No |
ClinGen gnomAD |
|
|
rs144462785 CA3463045 |
252 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361437348 rs1554286705 |
252 | L>V | No |
ClinGen gnomAD |
|
|
rs1554286710 CA361437354 |
253 | E>G | No |
ClinGen gnomAD |
|
|
CA3463046 rs782688861 |
253 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1554286712 CA361437369 |
255 | S>N | No |
ClinGen gnomAD |
|
|
rs1554286713 CA361437376 |
256 | I>L | No |
ClinGen gnomAD |
|
|
CA361437387 rs1396778808 |
258 | G>C | No |
ClinGen TOPMed |
|
|
CA361437394 rs1588385950 |
259 | S>P | No |
ClinGen Ensembl |
|
|
rs1461062188 CA361437401 |
260 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs367963681 CA3463049 |
261 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782250005 CA3463050 |
263 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA3463052 rs782027801 COSM1671967 |
264 | V>I | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361437428 rs1563977359 |
265 | S>L | No |
ClinGen Ensembl |
|
|
rs1417726585 CA361437425 |
265 | S>T | No |
ClinGen TOPMed |
|
|
CA128436195 rs139060606 |
267 | W>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA361437456 rs1554286723 |
269 | L>S | No |
ClinGen gnomAD |
|
|
rs782803384 CA3463057 |
270 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781934856 CA3463055 |
270 | D>N | No |
ClinGen ExAC TOPMed |
|
|
rs200437596 CA3463058 |
272 | G>V | No |
ClinGen ESP TOPMed |
|
|
CA128436211 rs200772698 |
273 | T>A | No |
ClinGen 1000Genomes |
|
|
CA361437481 rs1268408914 |
273 | T>I | No |
ClinGen TOPMed |
|
|
CA3463062 rs782792458 |
274 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs58362260 CA3463061 |
274 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3463064 rs782454702 |
275 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361437495 rs1554286731 |
276 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3463066 rs781840216 |
277 | L>I | No |
ClinGen ExAC TOPMed |
|
|
rs782497642 CA3463067 |
278 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200244871 CA128436229 |
278 | S>P | No |
ClinGen Ensembl |
|
|
rs1323890865 CA361437520 |
280 | T>A | No |
ClinGen TOPMed |
|
|
CA361437522 rs1440299716 |
280 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA361437523 rs1440299716 |
280 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782289382 CA3463073 |
282 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140854982 CA3463074 |
283 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782195330 CA3463076 |
284 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1554286738 CA361437551 |
285 | S>P | No |
ClinGen gnomAD |
|
|
CA361437556 rs1554286740 |
286 | E>K | No |
ClinGen Ensembl |
|
|
CA361437569 rs1554286743 |
287 | D>V | No |
ClinGen gnomAD |
|
|
rs1554286741 CA361437565 |
287 | D>Y | No |
ClinGen gnomAD |
|
|
rs1554286744 CA361437574 |
288 | I>F | No |
ClinGen gnomAD |
|
|
rs1554286745 CA361437576 |
288 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 290 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782495960 CA3463078 |
291 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361437618 rs1206498589 |
294 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs547334734 CA3463082 |
294 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782016283 CA3463081 |
294 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782697708 CA3463084 |
295 | N>H | No |
ClinGen ExAC |
|
| TCGA novel | 296 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3463085 rs782650834 |
296 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782104645 CA3463086 |
297 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3463089 rs781871417 |
300 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA128436271 rs372597067 |
300 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA3463090 rs147813756 |
302 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781799169 CA3463091 |
302 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs141443793 CA3463092 |
303 | L>S | No |
ClinGen ESP ExAC |
|
|
rs1554286754 CA361437686 |
305 | A>E | No |
ClinGen gnomAD |
|
|
rs147002391 CA3463093 |
305 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs192489004 CA3463094 |
306 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs192489004 CA361437693 |
306 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361437712 rs1588386177 |
308 | D>G | No |
ClinGen Ensembl |
|
|
rs1588386185 CA361437721 |
309 | F>S | No |
ClinGen Ensembl |
|
|
rs536243576 CA3463096 |
311 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs561172484 CA3463097 |
311 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 312 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3463099 rs61729948 |
312 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3463098 rs782430050 |
312 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437005675 CA361437750 |
313 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs80355833 CA3463100 |
313 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs80355833 CA3463101 |
313 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3463103 rs781982947 |
315 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554286761 CA361437778 |
316 | S>* | No |
ClinGen gnomAD |
|
|
CA361437782 rs370580961 |
317 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554286764 CA361437785 |
317 | I>T | No |
ClinGen gnomAD |
|
|
rs370580961 CA3463104 |
317 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3463106 rs782041103 |
320 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA361437808 rs1373152316 |
320 | Q>R | No |
ClinGen TOPMed |
|
|
CA3463107 rs150186897 |
324 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139586852 CA3463109 |
324 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3463108 rs150186897 |
324 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1277969078 CA361437836 |
325 | G>E | No |
ClinGen TOPMed |
|
|
CA361437846 rs1554286767 |
327 | L>V | No |
ClinGen gnomAD |
|
|
rs1554286769 CA361437880 |
332 | T>A | No |
ClinGen gnomAD |
|
|
rs373842919 CA3463111 |
332 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 334 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781865603 CA3463112 |
334 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463113 CA128436337 rs148323419 |
336 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1326034109 CA361437913 |
337 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1554286773 CA361437919 |
338 | M>T | No |
ClinGen gnomAD |
|
|
CA361437928 rs1554286775 |
339 | D>V | No |
ClinGen gnomAD |
|
|
rs1416914741 CA361437932 |
340 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 342 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3463118 rs371515374 |
344 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371515374 CA3463116 |
344 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371515374 CA3463117 |
344 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1554286778 CA361437997 |
349 | V>A | No |
ClinGen gnomAD |
|
|
rs782390989 CA3463119 |
351 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3463120 rs782669771 |
352 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA361438010 rs782669771 |
352 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1563977978 CA361438016 |
353 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 353 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3463121 rs782298446 |
353 | T>S | No |
ClinGen ExAC |
|
|
CA3463122 rs782318301 |
355 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3463123 rs781939315 |
357 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361438054 rs1474151889 |
359 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3463124 rs782087191 |
359 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1588386341 CA361438061 |
360 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 361 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361438068 rs1554286785 |
361 | P>S | No |
ClinGen gnomAD |
|
|
CA361438078 rs1554286786 |
362 | E>D | No |
ClinGen gnomAD |
|
|
rs1372048120 CA361438081 |
363 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs782355934 CA3463125 |
363 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463126 rs781985198 |
364 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781985198 CA361438088 |
364 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554286787 CA361438092 |
365 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361438100 rs1554286788 |
366 | M>I | No |
ClinGen gnomAD |
|
|
rs782793163 CA3463128 |
366 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA3463129 rs781903475 |
366 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs782793163 CA361438097 |
366 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3463131 rs782724499 |
367 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782041795 CA3463130 |
367 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3463132 rs781838754 |
369 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554286790 CA361438140 |
370 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1554286791 CA361438154 |
371 | R>P | No |
ClinGen gnomAD |
|
|
CA361438165 rs1438258212 |
372 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3463133 rs782513373 |
372 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs782784119 CA3463134 |
373 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781894805 CA3463135 |
375 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs544493888 CA128436422 |
376 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs370806858 CA361440266 COSM448910 |
377 | D>E | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1554286794 CA361440273 |
378 | N>D | No |
ClinGen gnomAD |
|
|
CA361440284 rs138372421 CA3463137 |
378 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782470780 CA3463139 |
379 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143078709 CA3463138 |
379 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782619549 CA3463140 |
380 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554286795 CA361440325 |
381 | M>T | No |
ClinGen gnomAD |
|
|
CA361440344 rs1554286796 |
382 | V>G | No |
ClinGen gnomAD |
|
|
rs782234000 CA3463141 |
383 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782234000 CA361440355 |
383 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554286797 CA361440377 |
385 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1554286799 CA361440409 |
386 | P>L | No |
ClinGen gnomAD |
|
|
CA3463142 rs374675822 |
386 | P>T | No |
ClinGen ExAC TOPMed |
|
|
CA361440416 rs1395138355 |
387 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA361440414 rs1395138355 |
387 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs782309451 CA3463145 |
388 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA3463144 rs782295370 |
388 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA361440431 rs782295370 |
388 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1165087786 CA361440460 |
389 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA361440470 rs1415216154 |
390 | P>R | No |
ClinGen TOPMed |
|
|
CA361440465 rs1462641370 |
390 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782080716 CA3463148 |
392 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463147 rs782080716 |
392 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782080716 CA361440504 |
392 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463146 CA361440498 rs201620775 |
392 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3463151 rs782813033 |
393 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463149 rs371588723 |
393 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA361440540 rs1179536770 |
395 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3463152 rs781796244 |
395 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361440539 rs1179536770 |
395 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs146148949 CA3463154 |
396 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782456605 CA3463153 |
396 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361440579 rs1563978279 |
397 | V>G | No |
ClinGen Ensembl |
|
|
CA361440588 rs1332896281 |
398 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200934336 CA128436487 |
400 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs139124735 CA3463156 |
401 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361440637 rs1224588538 |
401 | Y>D | No |
ClinGen TOPMed |
|
|
CA361440635 rs1224588538 |
401 | Y>H | No |
ClinGen TOPMed |
|
|
CA361440662 rs1554286809 |
402 | T>I | No |
ClinGen gnomAD |
|
|
CA361440651 rs1554286808 |
402 | T>S | No |
ClinGen gnomAD |
|
|
rs782634328 CA3463158 |
403 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361440674 rs1554286810 |
403 | L>W | No |
ClinGen gnomAD |
|
|
CA128436515 rs367760858 |
405 | T>A | No |
ClinGen ESP TOPMed |
|
|
rs782547584 CA3463160 |
405 | T>I | No |
ClinGen ExAC |
|
|
CA3463161 rs371548754 |
406 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1391770733 CA361440738 |
407 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 407 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163734133 CA361440756 |
408 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1163734133 CA361440752 |
408 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 413 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782343667 CA361440850 |
413 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149877492 CA3463163 |
413 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361440860 rs1156658610 |
414 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1469517671 CA361440871 |
415 | A>T | No |
ClinGen TOPMed |
|
|
rs782259044 CA361440883 |
416 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463166 rs782259044 |
416 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361440956 rs1467174963 |
419 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs782058732 CA3463170 |
419 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3463172 rs781957336 |
420 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3463173 rs2910327 VAR_033710 |
420 | T>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA361440987 rs1216761913 |
421 | I>T | No |
ClinGen TOPMed |
|
|
CA3463175 rs781864702 |
421 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA361441000 rs1319014246 |
422 | T>N | No |
ClinGen TOPMed |
|
|
CA361441010 rs782816498 COSM1495941 |
423 | V>F | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3463177 rs782816498 |
423 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3463180 rs782600542 |
425 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463182 rs782532062 |
428 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463183 rs782532062 COSM1619679 |
428 | T>N | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA361441106 rs1431001190 |
429 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1346617552 CA361441111 |
429 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA361441107 rs1431001190 |
429 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3463186 rs782599207 |
430 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs782218546 CA361441133 |
431 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1315908649 CA361441139 |
431 | L>P | No |
ClinGen TOPMed |
|
|
rs782218546 CA3463187 |
431 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1554286844 CA361441168 |
433 | T>A | No |
ClinGen gnomAD |
|
|
CA3463191 rs782402012 |
434 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463192 rs527485800 |
435 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3463193 rs782045118 |
436 | N>I | No |
ClinGen ExAC |
|
|
CA361441239 rs1554286849 |
437 | I>L | No |
ClinGen gnomAD |
|
|
CA361441244 rs782703926 |
437 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463194 rs782703926 |
437 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361441237 rs1554286849 |
437 | I>V | No |
ClinGen gnomAD |
|
|
rs147829510 CA3463198 |
439 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147829510 CA361441265 |
439 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361441289 rs1554286852 |
440 | L>P | No |
ClinGen gnomAD |
|
|
CA3463200 rs782582106 |
441 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361441296 rs1214654804 |
441 | V>L | No |
ClinGen TOPMed |
|
|
rs777084300 CA128436633 |
442 | S>F | No |
ClinGen gnomAD |
|
|
rs782485721 CA3463202 |
442 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1375831038 CA361441329 |
443 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs782254141 CA3463204 |
443 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3463206 rs782660250 |
445 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1554286860 CA361441357 |
445 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782384108 CA3463205 |
445 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM736001 CA361441408 rs1432721338 |
448 | A>D | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs782300851 CA3463209 |
448 | A>S | No |
ClinGen ExAC TOPMed |
|
|
rs782300851 CA3463208 |
448 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA361441412 rs1432721338 |
448 | A>V | No |
ClinGen TOPMed |
|
|
CA361441428 rs1171178715 |
449 | P>T | No |
ClinGen TOPMed |
|
|
CA361441451 rs1417523518 |
450 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA361441446 rs782357019 |
450 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782357019 CA3463211 |
450 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554286869 CA361441458 |
451 | F>L | No |
ClinGen gnomAD |
|
|
CA3463212 rs139627902 |
452 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA361441494 rs1554286871 |
453 | Q>* | No |
ClinGen gnomAD |
|
|
CA3463215 rs781923772 |
454 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463217 rs782727446 |
455 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 456 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361441569 rs529972018 |
457 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782503741 CA361441562 |
457 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782503741 CA3463219 |
457 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529972018 CA3463220 |
457 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1217617182 CA361441604 |
459 | F>C | No |
ClinGen TOPMed |
|
|
CA3463223 rs782545132 CA3463222 |
459 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361441606 rs201639038 |
460 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201639038 CA361441605 |
460 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3463224 rs201639038 |
460 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782479486 CA361441610 |
461 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782479486 CA361441611 |
461 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463226 rs782606393 |
461 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361441612 rs782606393 |
461 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782479486 CA3463225 |
461 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463230 rs1554286888 |
462 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361441614 rs1554286888 |
462 | E>Q | No |
ClinGen gnomAD |
|
|
CA3463232 rs782037642 |
463 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463235 rs782333768 |
464 | N>I | No |
ClinGen ExAC |
|
| TCGA novel | 464 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554286903 CA361441641 |
465 | S>R | No |
ClinGen gnomAD |
|
|
CA361441649 rs1170138951 |
467 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA361441668 rs1462112814 |
470 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1554286911 CA361441672 |
470 | I>T | No |
ClinGen gnomAD |
|
|
rs1462112814 CA361441669 |
470 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3463238 rs145315035 |
471 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145315035 CA3463239 |
471 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 472 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3463240 rs782783646 |
472 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3463242 rs147635538 |
472 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3463243 rs140960156 |
473 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361441691 rs1554286917 |
474 | S>R | No |
ClinGen gnomAD |
|
|
rs781785471 CA3463244 |
474 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463246 rs782728643 |
475 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs781836298 CA3463247 COSM1717071 |
475 | A>V | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs782290598 CA3463250 |
477 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA361441718 rs1274687425 |
478 | R>T | No |
ClinGen TOPMed |
|
|
rs782441244 CA3463252 |
479 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA361441733 rs1554286922 |
480 | S>W | No |
ClinGen gnomAD |
|
|
CA3463258 rs782264985 |
481 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs782632082 CA3463257 |
481 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs782039623 CA3463261 |
483 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs368877936 CA3463262 |
483 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781945408 CA3463263 |
483 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361441754 rs782098156 |
484 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361441751 rs1554286925 |
484 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 484 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3463264 rs782098156 |
484 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463267 rs782161768 |
485 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs373487876 CA3463266 |
485 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373487876 CA128436749 |
485 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3463268 rs200678792 |
486 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs552351163 CA3463271 |
487 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552351163 CA3463270 |
487 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1161750690 CA361441777 |
488 | Y>* | No |
ClinGen TOPMed |
|
|
CA361441774 rs1364722645 |
488 | Y>C | No |
ClinGen TOPMed |
|
|
CA361441772 rs1554286927 |
488 | Y>N | No |
ClinGen gnomAD |
|
|
CA361441775 rs1364722645 |
488 | Y>S | No |
ClinGen TOPMed |
|
|
rs781861532 CA361441782 |
489 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs781861532 CA3463272 |
489 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1588387026 CA361441781 |
489 | S>P | No |
ClinGen Ensembl |
|
|
CA361441787 rs1554286930 |
490 | L>P | No |
ClinGen gnomAD |
|
|
CA3463274 rs782682820 |
492 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs369608780 CA3463275 |
492 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369608780 CA3463276 |
492 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369608780 CA128436778 |
492 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3463280 rs566209317 |
493 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1554286932 CA361441805 |
494 | Q>R | No |
ClinGen gnomAD |
|
|
CA361441811 rs1588387069 |
495 | D>A | No |
ClinGen Ensembl |
|
|
rs782400979 CA3463282 |
495 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA361441817 rs1554286936 |
496 | P>A | No |
ClinGen gnomAD |
|
|
rs145684643 CA3463283 COSM1062793 |
496 | P>L | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA361441820 rs145684643 |
496 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361441825 rs1554286938 |
497 | H>P | No |
ClinGen gnomAD |
|
|
rs537711307 CA3463286 |
497 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1563979288 CA361441832 |
498 | L>R | No |
ClinGen Ensembl |
|
|
CA3463287 rs374224597 |
499 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3463288 rs374224597 |
499 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361441843 rs1373277709 |
501 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs781797460 CA3463292 |
505 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781797460 CA3463293 |
505 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs782667453 CA3463297 |
507 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3463298 rs138442827 |
508 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 511 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380129366 CA361441907 |
511 | G>S | No |
ClinGen TOPMed |
|
|
CA3463301 rs781954477 |
512 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs368517510 CA3463302 |
513 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3463304 rs782009435 |
515 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782009435 CA361441933 |
515 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463305 rs141554375 |
516 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1588387148 CA361441937 |
516 | L>H | No |
ClinGen Ensembl |
|
|
rs782818390 CA3463306 |
518 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1206628004 CA361441956 |
519 | L>R | No |
ClinGen TOPMed |
|
|
CA361441953 rs1554286949 |
519 | L>V | No |
ClinGen gnomAD |
|
|
CA361441964 rs1484750732 |
520 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 521 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3463309 rs782738686 |
523 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463310 rs782738686 |
523 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361441991 rs1554286951 |
525 | Q>* | No |
ClinGen gnomAD |
|
|
rs782768075 CA3463312 |
526 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782768075 CA3463313 |
526 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782586338 CA3463315 |
527 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782215734 CA3463316 |
528 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463317 rs782482527 |
528 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3409877 rs1297969778 CA361442025 |
530 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3463318 CA3463320 rs139448614 |
531 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3463319 rs139448614 |
531 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782043522 CA3463322 |
533 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782043522 CA3463321 |
533 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3463323 rs782321778 |
533 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs545491497 CA3463326 |
534 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361442044 rs1554286961 |
534 | T>I | No |
ClinGen gnomAD |
|
|
rs545491497 COSM3393243 CA3463325 |
534 | T>S | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1373201218 CA361442049 |
535 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs149275130 CA3463328 |
536 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3463327 rs782004880 |
536 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781790409 CA3463330 |
536 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463329 rs149275130 |
536 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs532396499 CA361442057 |
537 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA3463332 rs532396499 |
537 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3463331 rs532396499 COSM735997 |
537 | G>S | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA3463334 rs781856090 |
538 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3463335 rs782525356 |
539 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782525356 CA361442069 |
539 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361442070 rs782525356 |
539 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368686213 CA3463338 |
541 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782592567 CA3463339 |
542 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA361442099 rs782223453 |
544 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs782223453 CA3463340 |
544 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1340140236 CA361442108 |
545 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA361442105 rs1554286968 |
545 | A>T | No |
ClinGen gnomAD |
|
|
rs1340140236 CA361442110 |
545 | A>V | No |
ClinGen TOPMed |
|
|
CA361442115 rs1554286973 |
546 | L>R | No |
ClinGen gnomAD |
|
|
CA3463342 rs782365765 |
548 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA361442124 rs1334064324 |
548 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3463345 rs535080782 CA3463346 |
549 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs535080782 CA361442127 |
549 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3463348 rs371599126 |
550 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1554286979 CA361442135 |
551 | V>M | No |
ClinGen gnomAD |
|
|
CA3463351 rs139693592 |
553 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3463352 rs145232861 |
554 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782154457 CA3463354 |
556 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs782698980 CA3463355 |
557 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs782480054 CA3463358 |
558 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs782480054 CA3463357 |
558 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs781798581 CA3463356 |
558 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA361442188 rs1186734035 |
559 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1554286984 CA361442185 |
559 | P>S | No |
ClinGen gnomAD |
|
|
CA3463362 rs782525183 CA361442197 |
561 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3463361 rs782525183 |
561 | V>M | No |
ClinGen ExAC gnomAD |
|
|
COSM1062797 rs148692502 CA128437013 |
563 | Y>C | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA |
|
rs1554286989 CA361442208 |
563 | Y>D | No |
ClinGen gnomAD |
|
|
CA3463365 rs782595260 |
564 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782595260 CA361442216 |
564 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284048456 CA361442228 |
566 | Q>H | No |
ClinGen TOPMed |
|
|
rs781996226 CA3463368 |
566 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs151253443 CA3463370 |
568 | G>S | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs1330258148 CA361442242 |
568 | G>V | No |
ClinGen TOPMed |
|
|
rs781912527 CA3463373 |
570 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361442253 rs1554286996 COSM1062798 |
570 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3463375 rs782729510 |
571 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA361442272 rs1554286997 |
573 | T>I | No |
ClinGen gnomAD |
|
|
CA361442274 rs1411351318 |
574 | E>Q | No |
ClinGen TOPMed |
|
|
CA3463376 rs781846298 |
575 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA361442283 rs1554287000 |
575 | L>P | No |
ClinGen gnomAD |
|
|
CA128437095 rs538235558 |
576 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs538235558 CA3463377 |
576 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361442293 rs1554287004 |
577 | P>L | No |
ClinGen gnomAD |
|
|
rs113720404 CA3463378 |
577 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1365485272 CA361442300 |
578 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1554287005 CA361442298 |
578 | W>L | No |
ClinGen gnomAD |
|
|
rs781890454 CA3463379 |
578 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361442304 rs1554287006 |
579 | A>E | No |
ClinGen gnomAD |
|
|
rs782555743 CA3463380 |
579 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554287006 CA361442306 COSM1219638 |
579 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA361442313 rs1554287008 |
581 | E>K | No |
ClinGen gnomAD |
|
|
rs782707126 CA3463381 |
582 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA361442331 rs1457345011 |
583 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1457345011 CA361442330 |
583 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA361442336 rs1215787216 |
584 | Y>C | No |
ClinGen TOPMed |
|
|
rs1563979969 CA361442345 |
586 | V>L | No |
ClinGen Ensembl |
|
|
CA3463385 rs202102843 |
587 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3463384 rs782623994 |
587 | T>P | No |
ClinGen ExAC |
|
|
rs1554287016 CA361442365 |
589 | V>L | No |
ClinGen gnomAD |
|
|
CA3463386 rs782532808 |
591 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs782679460 CA3463387 |
591 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3463390 rs372199144 |
592 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782320927 CA3463389 |
592 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs376550670 CA3463393 |
593 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs540698889 CA3463391 |
593 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3463392 rs376550670 |
593 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128437156 rs369384082 |
594 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3463394 rs145723673 |
594 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1322588854 CA361442405 |
596 | S>L | No |
ClinGen TOPMed |
|
|
CA3463397 rs782070172 |
597 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3463398 rs782723103 |
598 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361442426 rs782512120 |
600 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463400 COSM1130878 rs782512120 |
600 | A>T | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA361442430 rs1439066878 |
600 | A>V | No |
ClinGen TOPMed |
|
|
rs781903015 CA3463402 |
601 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782805251 CA3463401 |
601 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361442447 rs782429642 |
603 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3463403 rs782429642 |
603 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554287027 CA361442454 |
604 | Y>* | No |
ClinGen gnomAD |
|
|
rs17844603 CA3463404 |
604 | Y>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782206219 CA361442456 |
605 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782206219 CA3463405 |
605 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782503232 CA3463406 |
606 | L>P | No |
ClinGen ExAC |
|
|
rs1349240007 CA361442489 |
610 | T>M | No |
ClinGen TOPMed |
|
|
rs1349240007 CA361442491 |
610 | T>R | No |
ClinGen TOPMed |
|
|
rs782187005 CA3463413 CA3463414 |
611 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs532469068 CA3463416 |
612 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3463415 rs781957588 |
612 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA361442502 rs1365000783 |
613 | G>R | No |
ClinGen TOPMed |
|
|
rs782157614 CA3463419 |
615 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4159536 CA3463420 rs528495738 |
616 | G>R | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA361442521 rs528495738 COSM3827087 |
616 | G>S | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3463423 rs782739306 |
617 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361442525 rs782739306 |
617 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781866443 CA3463424 |
618 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361442541 rs1424612529 |
619 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA361442543 rs1424612529 |
619 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1554287038 CA361442551 |
620 | H>Q | No |
ClinGen gnomAD |
|
|
rs782680762 CA3463427 |
623 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782519747 CA3463425 |
623 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782680762 CA3463426 |
623 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374926129 CA3463429 |
624 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201301252 CA361442577 |
625 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA361442578 rs1554287044 |
625 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3463430 rs201301252 |
625 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782361618 COSM293661 CA361442587 |
627 | A>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs782361618 CA3463431 COSM293083 |
627 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3463432 rs782647739 |
627 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3463433 rs782273870 |
628 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1399204701 CA361442592 |
628 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA361442595 rs1554287052 |
628 | R>S | No |
ClinGen gnomAD |
|
|
rs369072390 CA3463436 |
630 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361442607 rs1304493480 |
631 | S>G | No |
ClinGen TOPMed |
|
|
rs782334853 CA3463437 |
632 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA361442623 COSM1261346 rs1554287054 |
633 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1554287054 CA361442622 |
633 | R>G | No |
ClinGen gnomAD |
|
|
rs781959356 CA3463438 |
633 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA3463440 rs782788231 |
634 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA361442635 rs1358649737 |
635 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs373006083 CA128437339 |
635 | A>T | No |
ClinGen ESP TOPMed |
|
|
rs1358649737 CA361442637 |
635 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1421786693 CA361442640 |
636 | A>D | No |
ClinGen TOPMed |
|
|
CA3463443 rs782694034 |
636 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3463446 rs551224347 |
638 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782465113 CA3463445 |
638 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554287058 CA361442653 |
638 | H>Y | No |
ClinGen gnomAD |
|
|
CA3463447 rs781869904 |
640 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463450 rs782174220 |
641 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs372246857 CA3463448 |
641 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3463449 rs372246857 |
641 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782320605 CA3463451 |
642 | V>G | No |
ClinGen ExAC |
|
|
rs782368207 CA3463454 |
644 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA3463453 rs202192087 |
644 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 645 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3463456 rs782158113 |
646 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463458 rs782423516 |
647 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226471176 CA361442768 |
651 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs200444693 COSM343062 CA3463461 |
652 | R>C | lung Variant assessed as Somatic; 6.545e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361442781 rs1449128159 |
652 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs781902755 CA3463464 |
654 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA3463469 rs782472778 |
656 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361442817 rs782472778 |
656 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782635324 CA3463470 |
657 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs10051434 CA361442859 CA3463473 |
659 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3463472 rs782544778 |
659 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361442867 rs1179506439 |
660 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1554287068 CA361442880 |
661 | L>F | No |
ClinGen gnomAD |
|
|
CA3463477 rs782227129 |
662 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782166363 CA3463480 |
664 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361442916 rs1468645183 |
664 | D>V | No |
ClinGen TOPMed |
|
|
CA3463482 rs781933846 |
665 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs781846696 CA3463485 |
668 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs782523304 CA3463486 |
669 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782523304 CA361442983 |
669 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782792954 CA3463487 |
670 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA361442992 rs782792954 |
670 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA361443016 rs1374742919 |
672 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361443014 rs1374742919 |
672 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA361443010 rs1554287074 |
672 | P>S | No |
ClinGen gnomAD |
|
|
rs782442572 CA3463489 |
673 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA361443032 rs1554287079 |
674 | P>A | No |
ClinGen gnomAD |
|
|
rs1554287081 CA361443040 |
674 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3463491 rs782216073 |
675 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA361443068 COSM1542187 rs1554287083 |
676 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA361443070 rs1292111933 |
677 | A>T | No |
ClinGen TOPMed |
|
|
rs782641715 CA3463496 |
678 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs782641715 CA3463494 |
678 | P>R | No |
ClinGen ExAC TOPMed |
|
|
rs1554287087 CA361443085 |
678 | P>S | No |
ClinGen gnomAD |
|
|
rs1554287087 CA361443081 |
678 | P>T | No |
ClinGen gnomAD |
|
|
CA3463497 rs782432207 |
679 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361443100 rs1554287093 |
679 | A>V | No |
ClinGen gnomAD |
|
|
CA361443112 rs1177484550 |
680 | Q>P | No |
ClinGen TOPMed |
|
|
CA3463499 rs369721899 |
681 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3463501 rs781967954 |
684 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM673937 rs199801519 CA3463502 |
685 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1554287095 CA361443183 |
685 | S>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361443222 rs1554287096 |
688 | V>I | No |
ClinGen gnomAD |
|
|
CA361443220 rs1554287096 |
688 | V>L | No |
ClinGen gnomAD |
|
|
CA3463508 rs576983904 |
689 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782711021 CA3463507 |
689 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782711021 CA3463506 |
689 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781859967 CA3463510 |
690 | L>P | No |
ClinGen ExAC |
|
|
rs1554287099 CA361443263 |
691 | V>A | No |
ClinGen gnomAD |
|
|
CA361443259 rs781789190 |
691 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463513 rs781789190 |
691 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782607224 CA3463515 |
692 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA361443283 rs1386484174 |
693 | A>T | No |
ClinGen TOPMed |
|
|
rs782275094 CA3463519 |
694 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA361443308 rs1418347881 |
695 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs148202292 CA3463522 |
697 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361443347 rs142684910 |
698 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361443349 rs142684910 |
698 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3463523 rs142684910 |
698 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1542185 rs782118556 CA3463525 |
699 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs782118556 CA361443359 |
699 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs1554287109 CA361443367 |
700 | L>F | No |
ClinGen gnomAD |
|
|
rs782783999 CA3463526 |
700 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1554287109 CA361443365 |
700 | L>V | No |
ClinGen gnomAD |
|
|
CA361443374 rs1563980943 |
701 | F>L | No |
ClinGen Ensembl |
|
|
rs781893122 CA3463527 |
702 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201380159 CA3463528 |
703 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1347203547 CA361443414 |
704 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA361443415 rs1347203547 |
704 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA3463532 rs782618634 |
706 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1563981006 CA361443442 |
707 | L>M | No |
ClinGen Ensembl |
|
|
rs782533029 CA3463535 |
707 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782533029 CA361443447 |
707 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398572674 CA361443465 |
708 | F>L | No |
ClinGen TOPMed |
|
|
CA3463539 rs782617265 |
709 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3463537 rs199658197 |
709 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs199658197 CA3463538 |
709 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs373977049 CA3463540 |
710 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361443491 rs1554287116 |
711 | V>L | No |
ClinGen gnomAD |
|
|
CA3463543 rs782282856 |
712 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3463542 rs782005782 |
712 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs782308539 CA3463544 |
713 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465178018 CA361443524 |
714 | C>F | No |
ClinGen TOPMed |
|
|
CA3463545 rs138002304 |
714 | C>R | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 714 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423919931 CA361443533 |
715 | R>G | No |
ClinGen TOPMed |
|
|
CA3463548 rs143478907 |
715 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554287129 CA361443540 |
715 | R>S | No |
ClinGen gnomAD |
|
|
rs1554287131 CA361443555 |
716 | R>S | No |
ClinGen gnomAD |
|
|
CA3463549 rs377523534 |
717 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 718 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361444247 rs1262281135 |
719 | A>G | No |
ClinGen TOPMed |
|
|
rs370312885 CA3463551 |
719 | A>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA361444248 rs1262281135 |
719 | A>V | No |
ClinGen TOPMed |
|
|
rs751843748 CA128437790 |
720 | A>G | No |
ClinGen Ensembl |
|
|
rs201142572 CA361444254 |
720 | A>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs201142572 CA3463553 |
720 | A>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA3463556 COSM1219637 rs150562956 |
721 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3463555 rs150562956 |
721 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782445256 CA3463554 |
721 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs781960815 | 723 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782258906 CA3463561 |
724 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782258906 CA361444293 |
724 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554287140 CA361444295 |
724 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs373394882 CA361444307 |
725 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361444303 rs1588388188 |
725 | C>G | No |
ClinGen Ensembl |
|
|
rs373394882 CA3463562 |
725 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361444325 rs1339237067 |
726 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3463564 rs62378914 |
727 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781965350 CA3463566 |
728 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3463567 rs782238557 |
728 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332940892 CA361444348 |
729 | E>K | No |
ClinGen TOPMed |
|
|
rs782008174 CA3463569 |
730 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782157386 CA3463570 |
730 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361444380 rs1366679650 |
731 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3463571 rs533366079 |
733 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361444415 rs1440370662 |
734 | G>E | No |
ClinGen TOPMed |
|
|
CA361444413 rs1563981302 |
734 | G>R | No |
ClinGen Ensembl |
|
|
CA361444430 rs782092570 |
735 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361444428 rs782092570 |
735 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361444433 rs1554287155 |
735 | H>Q | No |
ClinGen gnomAD |
|
|
rs782092570 CA3463573 |
735 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554287156 CA361444435 |
736 | L>M | No |
ClinGen gnomAD |
|
|
CA361444439 rs1554287157 |
736 | L>P | No |
ClinGen gnomAD |
|
|
rs782752373 CA3463574 |
737 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463576 rs782514033 CA3463578 |
738 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 738 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361444458 rs1212025365 |
738 | D>Y | No |
ClinGen TOPMed |
|
|
rs1354810339 CA361444471 |
739 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361444469 rs1354810339 |
739 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA361444485 rs1554287160 |
740 | S>G | No |
ClinGen gnomAD |
|
|
CA361444498 rs1376994550 |
741 | G>D | No |
ClinGen TOPMed |
|
|
CA128437935 rs528308478 |
741 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 742 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 743 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361444549 rs1554287162 |
746 | S>P | No |
ClinGen gnomAD |
|
|
rs782645236 CA3463583 |
747 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs200409568 CA3463584 |
748 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1399121765 CA361444601 |
749 | Y>* | No |
ClinGen TOPMed |
|
|
rs1554287163 CA361444591 |
749 | Y>D | No |
ClinGen gnomAD |
|
|
rs61738374 CA3463585 |
750 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361444621 rs782573902 |
751 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3463586 rs782573902 |
751 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554287167 CA361444632 |
752 | E>* | No |
ClinGen gnomAD |
|
|
rs1406847935 CA361444634 |
752 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA361444647 rs1554287169 |
753 | V>L | No |
ClinGen gnomAD |
|
|
rs540988726 CA3463588 |
755 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781980011 CA3463589 |
756 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3463590 rs554175660 |
758 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361444725 rs1440312324 |
759 | S>F | No |
ClinGen TOPMed |
|
|
rs782016469 CA3463592 |
760 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782165138 CA3463593 |
760 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782165138 CA3463594 |
760 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 762 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782098340 CA3463596 |
762 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554287172 CA361444759 |
762 | N>Y | No |
ClinGen gnomAD |
|
|
CA3463597 rs2910006 VAR_048554 |
763 | K>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA361444834 rs1554287177 |
768 | K>* | No |
ClinGen gnomAD |
|
|
rs782530493 CA3463599 |
769 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs782530493 CA361444851 |
769 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1289703894 CA361444858 |
770 | I>V | No |
ClinGen TOPMed |
|
|
CA361444881 rs1217909875 |
771 | I>M | No |
ClinGen TOPMed |
|
|
rs782683103 CA3463602 |
772 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287480324 CA361444908 |
774 | F>I | No |
ClinGen TOPMed |
|
|
rs781785221 CA3463603 |
775 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA361444935 rs150012672 |
776 | P>H | No |
ClinGen TOPMed |
|
|
rs150012672 COSM110386 CA128438040 |
776 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 778 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782460339 CA3463604 |
778 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA3463606 rs782239851 |
779 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1438240684 CA361444983 |
780 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782382690 CA3463607 |
781 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA361444998 rs1554287186 |
781 | S>N | No |
ClinGen gnomAD |
|
|
CA3463608 rs536717308 |
782 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3463609 rs782281270 |
784 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463610 rs782426459 |
785 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs781920996 CA3463611 |
786 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3463612 rs782077784 |
786 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM448913 rs556781909 CA3463613 |
787 | P>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA361445080 rs1420165730 COSM1542183 |
787 | P>S | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA361445117 rs1554287191 |
790 | Q>* | No |
ClinGen Ensembl |
|
|
CA361445163 rs576927079 |
793 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3463615 rs782132861 |
794 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs545719056 CA361445193 |
796 | F>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3463616 rs545719056 |
796 | F>R | No |
ClinGen 1000Genomes ExAC gnomAD |
No associated diseases with Q9Y5F1
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| homophilic cell adhesion via plasma membrane adhesion molecules | The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
45 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SWX5 | CDH6 | Cadherin-6 | Bos taurus (Bovine) | PR |
| P79995 | CDH10 | Cadherin-10 | Gallus gallus (Chicken) | PR |
| Q8UVJ7 | CDHR1 | Cadherin-related family member 1 | Gallus gallus (Chicken) | PR |
| Q5DRC8 | PCDHB6 | Protocadherin beta-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE4 | PCDHA8 | Protocadherin alpha-8 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE6 | PCDHA6 | Protocadherin alpha-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRF0 | PCDHA2 | Protocadherin alpha-2 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE7 | PCDHA5 | Protocadherin alpha-5 | Pan troglodytes (Chimpanzee) | PR |
| Q9VJB6 | CadN2 | Putative neural-cadherin 2 | Drosophila melanogaster (Fruit fly) | PR |
| Q9ULB4 | CDH9 | Cadherin-9 | Homo sapiens (Human) | PR |
| P12830 | CDH1 | Cadherin-1 | Homo sapiens (Human) | PR |
| Q9H159 | CDH19 | Cadherin-19 | Homo sapiens (Human) | PR |
| Q9Y6N8 | CDH10 | Cadherin-10 | Homo sapiens (Human) | PR |
| P55285 | CDH6 | Cadherin-6 | Homo sapiens (Human) | PR |
| P19022 | CDH2 | Cadherin-2 | Homo sapiens (Human) | PR |
| Q6ZTQ4 | CDHR3 | Cadherin-related family member 3 | Homo sapiens (Human) | PR |
| Q9BZA8 | PCDH11Y | Protocadherin-11 Y-linked | Homo sapiens (Human) | PR |
| Q08174 | PCDH1 | Protocadherin-1 | Homo sapiens (Human) | PR |
| Q9HC56 | PCDH9 | Protocadherin-9 | Homo sapiens (Human) | PR |
| Q9P2E7 | PCDH10 | Protocadherin-10 | Homo sapiens (Human) | PR |
| Q9Y5H8 | PCDHA3 | Protocadherin alpha-3 | Homo sapiens (Human) | PR |
| Q9UN75 | PCDHA12 | Protocadherin alpha-12 | Homo sapiens (Human) | PR |
| Q9Y5I2 | PCDHA10 | Protocadherin alpha-10 | Homo sapiens (Human) | PR |
| Q9UN72 | PCDHA7 | Protocadherin alpha-7 | Homo sapiens (Human) | PR |
| Q9UN74 | PCDHA4 | Protocadherin alpha-4 | Homo sapiens (Human) | PR |
| Q9Y5I1 | PCDHA11 | Protocadherin alpha-11 | Homo sapiens (Human) | PR |
| Q9Y5H7 | PCDHA5 | Protocadherin alpha-5 | Homo sapiens (Human) | PR |
| Q9UN73 | PCDHA6 | Protocadherin alpha-6 | Homo sapiens (Human) | PR |
| Q9Y5H6 | PCDHA8 | Protocadherin alpha-8 | Homo sapiens (Human) | PR |
| Q9Y5I3 | PCDHA1 | Protocadherin alpha-1 | Homo sapiens (Human) | PR |
| Q9Y5H9 | PCDHA2 | Protocadherin alpha-2 | Homo sapiens (Human) | PR |
| Q9Y5H3 | PCDHGA10 | Protocadherin gamma-A10 | Homo sapiens (Human) | PR |
| O60330 | PCDHGA12 | Protocadherin gamma-A12 | Homo sapiens (Human) | PR |
| Q9Y5G4 | PCDHGA9 | Protocadherin gamma-A9 | Homo sapiens (Human) | PR |
| Q9Y5G0 | PCDHGB5 | Protocadherin gamma-B5 | Homo sapiens (Human) | PR |
| Q9Y5E3 | PCDHB6 | Protocadherin beta-6 | Homo sapiens (Human) | PR |
| P09803 | Cdh1 | Cadherin-1 | Mus musculus (Mouse) | PR |
| P15116 | Cdh2 | Cadherin-2 | Mus musculus (Mouse) | PR |
| P70407 | Cdh9 | Cadherin-9 | Mus musculus (Mouse) | PR |
| P97326 | Cdh6 | Cadherin-6 | Mus musculus (Mouse) | PR |
| P70408 | Cdh10 | Cadherin-10 | Mus musculus (Mouse) | PR |
| Q8VHF2 | Cdhr5 | Cadherin-related family member 5 | Mus musculus (Mouse) | PR |
| P55280 | Cdh6 | Cadherin-6 | Rattus norvegicus (Rat) | PR |
| Q9Z1Y3 | Cdh2 | Cadherin-2 | Rattus norvegicus (Rat) | PR |
| Q767I8 | Pcdha4 | Protocadherin alpha-4 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MENGGAGTLQ | IRQVLLFFVL | LGMSQAGSET | GNFLVMEELQ | SGSFVGNLAK | TLGLEVSELS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SRGARVVSND | NKECLQLDTN | TGDLLLREML | DREELCGSNE | PCVLYFQVLM | KNPTQFLQIE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LQVRDINDHS | PVFLEKEMLL | EIPENSPVGA | VFLLESAKDL | DVGINAVKSY | TINPNSHFHV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KIRVNPDNRK | YPELVLDKAL | DYEERPELSF | ILTALDGGSP | PRSGTALVRV | VVVDINDNSP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EFEQAFYEVK | ILENSILGSL | VVTVSAWDLD | SGTNSELSYT | FSHASEDIRK | TFEINQKSGD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ITLTAPLDFE | AIESYSIIIQ | ATDGGGLFGK | STVRIQVMDV | NDNAPEITVS | SITSPIPENT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PETVVMVFRI | RDRDSGDNGK | MVCSIPEDIP | FVLKSSVNNY | YTLETERPLD | RESRAEYNIT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ITVTDLGTPR | LKTEHNITVL | VSDVNDNAPA | FTQTSYALFV | RENNSPALHI | GSISATDRDS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GTNAQVNYSL | LPSQDPHLPL | ASLVSINADN | GHLFALRSLD | YEALQGFQFR | VGATDHGSPA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LSSEALVRVL | VLDANDNSPF | VLYPLQNGSA | PCTELVPWAA | EPGYLVTKVV | AVDGDSGQNA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| WLSYQLLKAT | EPGLFGVWAH | NGEVRTARLL | SERDAAKHRL | VVLVKDNGEP | PRSATATLHV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LLVDGFSQPY | LPLPEAAPAQ | AQADSLTVYL | VVALASVSSL | FLFSVLLFVA | VRLCRRSRAA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PVGRCSVPEG | PFPGHLVDVS | GTGTLSQSYH | YEVCVTGGSR | SNKFKFLKPI | IPNFLPQSTG |
| 790 | |||||
| SEVEENPPFQ | NNLGF |