Q14500
PR
Gene name |
KCNJ12 (IRK2, KCNJN1) |
Protein name |
ATP-sensitive inward rectifier potassium channel 12 |
Names |
Inward rectifier K(+) channel Kir2.2, IRK-2, Inward rectifier K(+) channel Kir2.2v, Potassium channel, inwardly rectifying subfamily J member 12 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3768 |
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 Q14500
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q14500-F1 | Predicted | AlphaFoldDB |
729 variants for Q14500
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs782114975 CA8450936 |
2 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398263216 rs367663948 |
3 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367663948 CA8450938 |
3 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8450939 rs143653481 |
3 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8450941 rs781807616 |
4 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 5 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782537071 CA8450942 |
5 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8450944 rs782819037 |
6 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs3752032 CA8450946 |
6 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_024509 rs3752032 CA8450945 |
6 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8450943 rs782819037 |
6 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398263244 rs1567707371 |
8 | N>I | No |
ClinGen Ensembl |
|
|
rs1555562330 CA398263245 |
8 | N>K | No |
ClinGen gnomAD |
|
|
CA398263250 rs781837859 |
9 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8450947 rs781837859 |
9 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1403059413 CA398263259 |
10 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA289008973 rs755030830 |
11 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8450948 rs755030830 |
11 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782673266 CA8450949 |
12 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA398263267 rs1555562340 |
12 | I>V | No |
ClinGen gnomAD |
|
|
rs782377139 CA398263273 |
13 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8450953 rs782377139 |
13 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782659521 CA398263279 |
14 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA8450955 rs782209781 |
14 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8450954 rs782659521 |
14 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1657738 CA8450959 |
15 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8450958 VAR_049671 rs1657738 |
15 | S>L | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA8450957 rs781922716 |
15 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398263287 rs782764044 |
16 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8450962 rs782764044 |
16 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781815544 CA398263308 CA398263307 |
18 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782090964 CA398263309 CA8450964 |
19 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8450967 rs782558802 |
21 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA8450966 rs781897003 |
21 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781876374 CA8450969 |
23 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs781876374 CA398263332 |
23 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA398263330 rs782643223 |
23 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8450968 rs782643223 |
23 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 24 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273851881 CA398263346 |
25 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8450971 rs782612333 |
26 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA398263350 rs1433734566 |
26 | S>P | No |
ClinGen TOPMed |
|
|
CA8450974 rs138132047 |
27 | G>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs141709114 CA8450976 |
28 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374725738 CA8450977 |
28 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782073856 CA8450978 |
29 | N>D | No |
ClinGen ExAC TOPMed |
|
|
CA8450980 rs75113504 |
29 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8450981 rs782149484 COSM1290650 |
30 | G>S | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8450983 rs782808547 |
31 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782141993 CA8450984 |
32 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8450985 rs782141993 |
32 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398263382 rs1205714215 |
32 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs149252809 CA8450987 |
33 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782625381 CA8450991 |
34 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8450990 rs781879848 |
34 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8450989 rs781879848 COSM1710027 |
34 | G>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs782625381 CA8450992 |
34 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1597585318 CA398263406 |
36 | V>G | No |
ClinGen Ensembl |
|
|
CA8450994 rs74880280 |
36 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA398263402 rs74880280 |
36 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8450995 rs782173541 |
37 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA398263408 rs1567707526 |
37 | H>Y | No |
ClinGen Ensembl |
|
|
CA8450998 rs782036949 |
38 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8450997 rs782036949 |
38 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782036949 CA398263417 |
38 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374903521 CA398263418 |
39 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs3752033 CA8451001 |
39 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8451000 rs374903521 |
39 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8451003 rs781939302 |
40 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs3752034 CA8451004 |
40 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1555562383 CA398263425 |
41 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 41 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398263431 rs782797016 |
41 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA8451007 rs782505403 |
42 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398263433 rs1555562385 |
42 | C>G | No |
ClinGen gnomAD |
|
|
CA8451006 rs781848456 |
42 | C>Y | No |
ClinGen ExAC |
|
|
rs41284970 CA8451008 |
43 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8451009 rs78117732 |
43 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8451010 rs78117732 |
43 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8451011 rs144531040 |
45 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs112346542 COSM1381525 CA8451012 |
45 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs112346542 CA398263451 |
45 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA398263459 CA398263460 rs782643311 |
46 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398263462 rs201403828 |
47 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201403828 CA8451015 |
47 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201403828 CA398263461 |
47 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555562398 CA398263467 |
48 | K>E | No |
ClinGen gnomAD |
|
|
rs1555562398 CA398263466 |
48 | K>Q | No |
ClinGen gnomAD |
|
|
CA398263471 rs1555562401 |
48 | K>R | No |
ClinGen gnomAD |
|
|
rs782366733 CA8451016 |
50 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451018 rs782203961 |
51 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398263489 rs1158684514 |
51 | G>S | No |
ClinGen TOPMed |
|
|
rs782203961 CA398263493 |
51 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398263497 rs1423755362 |
52 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1423755362 CA398263498 |
52 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs782409766 CA8451019 |
54 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs782028809 CA8451020 |
54 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782104989 CA8451021 |
55 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398263517 rs1185843059 |
55 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8451022 rs1714865 |
56 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1243426620 CA398263534 |
57 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1555562423 CA398263531 |
57 | F>L | No |
ClinGen gnomAD |
|
|
rs1243426620 CA398263532 |
57 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA398263538 rs142399667 |
58 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142399667 CA8451024 COSM1239196 |
58 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 58 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398263547 rs1321082976 |
59 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA398263546 rs1321082976 |
59 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8451026 rs781807316 |
60 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451027 rs781807316 |
60 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398263553 rs781807316 |
60 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247966230 CA398263551 |
60 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 61 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433170217 CA398263566 |
62 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA398263586 rs1555562436 |
64 | S>L | No |
ClinGen gnomAD |
|
|
rs140486656 CA8451030 |
66 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA289009249 rs782080891 |
66 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA398263597 rs782080891 |
66 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs140486656 CA398263595 |
66 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781798242 CA8451032 |
67 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165994277 CA398263611 |
69 | A>T | No |
ClinGen TOPMed |
|
|
rs73979893 CA8451033 |
71 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555562445 CA398263629 |
71 | M>T | No |
ClinGen gnomAD |
|
|
rs1555562444 CA398263626 |
71 | M>V | No |
ClinGen gnomAD |
|
|
rs782673086 CA8451034 |
72 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8451035 rs782291063 |
72 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782634502 CA398263648 |
74 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451036 rs782369479 |
74 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs782634502 CA8451037 |
74 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263357487 CA398263659 |
76 | V>L | No |
ClinGen TOPMed |
|
|
CA398263664 rs1555562454 |
77 | D>N | No |
ClinGen gnomAD |
|
|
rs199966356 COSM321123 CA8451040 |
79 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8451042 rs377320706 |
79 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377320706 CA8451041 |
79 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781993303 CA8451043 |
80 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA398263691 rs781836897 |
81 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398263690 rs781836897 |
81 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781836897 CA8451046 |
81 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782136725 CA8451044 |
81 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1555562470 CA398263696 |
82 | Y>C | No |
ClinGen gnomAD |
|
|
rs1386332866 CA398263700 |
83 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs782713437 CA8451049 |
83 | M>T | No |
ClinGen ExAC |
|
|
rs1386332866 CA398263701 |
83 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1304961581 CA398263718 |
85 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1370433922 CA398263722 |
86 | I>N | No |
ClinGen TOPMed |
|
|
rs1463826276 CA398263728 |
87 | F>L | No |
ClinGen TOPMed |
|
|
CA398263730 rs1555562479 |
87 | F>S | No |
ClinGen gnomAD |
|
|
rs781870342 CA8451054 |
88 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA398263749 rs1555562486 |
90 | A>V | No |
ClinGen gnomAD |
|
|
CA398263759 rs1200880877 |
92 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA398263767 rs1555562489 |
93 | A>D | No |
ClinGen gnomAD |
|
|
rs1555562489 CA398263769 |
93 | A>V | No |
ClinGen gnomAD |
|
|
rs1555562491 CA398263782 |
95 | W>* | No |
ClinGen gnomAD |
|
|
CA398263779 rs1555562490 |
95 | W>* | No |
ClinGen gnomAD |
|
|
rs782252036 CA8451060 |
96 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398263785 rs782252036 |
96 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555562492 CA398263791 |
97 | L>Q | No |
ClinGen gnomAD |
|
|
rs781957793 CA8451062 |
98 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs138165053 CA8451064 |
99 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8451065 rs138165053 |
99 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8451067 rs8076599 VAR_059365 |
100 | I>V | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1343811013 CA398263824 |
102 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA398263835 rs1555562502 |
104 | V>I | No |
ClinGen gnomAD |
|
|
CA398263842 rs1555562505 |
105 | I>F | No |
ClinGen gnomAD |
|
|
rs781978074 CA8451068 |
105 | I>T | No |
ClinGen ExAC |
|
|
CA398263849 rs782449851 |
106 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782724742 CA8451070 |
106 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs782724742 CA8451071 |
106 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8451072 rs782449851 |
106 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1555562510 CA398263851 |
107 | V>M | No |
ClinGen gnomAD |
|
|
rs781885245 CA398263863 |
109 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA8451075 rs782541643 |
109 | H>L | No |
ClinGen ExAC |
|
|
CA8451074 rs781885245 |
109 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs782219305 CA398263869 |
110 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8451077 rs782219305 |
110 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs530528941 CA8451078 |
110 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1555562521 CA398263876 |
111 | D>A | No |
ClinGen gnomAD |
|
|
CA8451079 rs549289239 |
111 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555562520 CA398263873 |
111 | D>N | No |
ClinGen gnomAD |
|
|
CA398263885 rs1465242248 |
112 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA398263883 rs1465242248 |
112 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA398263881 rs782207289 |
112 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555562528 CA398263888 |
113 | E>* | No |
ClinGen gnomAD |
|
|
CA398263892 rs1426708868 |
113 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1555562528 CA398263887 |
113 | E>Q | No |
ClinGen gnomAD |
|
|
CA8451081 rs148229779 |
114 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs148229779 CA398263897 |
114 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8451082 rs148229779 |
114 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398263896 rs1555562530 |
114 | P>S | No |
ClinGen gnomAD |
|
|
rs1555562530 CA398263894 |
114 | P>T | No |
ClinGen gnomAD |
|
|
CA289009430 rs528265630 |
115 | A>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1555562535 COSM1302508 CA398263903 |
116 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8451087 rs782093982 |
117 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs782093982 CA8451086 |
117 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8451085 rs781945367 |
117 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1657740 CA398263917 |
118 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1657740 CA8451088 VAR_059366 |
118 | R>Q | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1179558149 CA398263915 |
118 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1555562540 CA398263922 |
119 | G>D | No |
ClinGen gnomAD |
|
|
CA8451090 rs782818545 |
119 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538899724 CA8451091 |
120 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1737006 rs538702652 CA8451093 |
120 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs538702652 CA398263925 |
120 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538702652 CA398263924 |
120 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8451092 COSM560199 rs538899724 |
120 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1336806486 CA398263929 |
121 | T>K | No |
ClinGen TOPMed |
|
|
CA8451095 rs112342786 |
122 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8451098 rs782501628 |
123 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782294098 CA8451097 |
123 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs782294098 CA398263937 |
123 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs782501628 CA398263939 |
123 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782653422 CA8451099 |
126 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA398263975 rs868948487 |
128 | H>P | No |
ClinGen Ensembl |
|
|
CA398263977 CA398263976 rs781915873 |
128 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782350621 CA8451101 |
128 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA398263978 rs1555562552 |
129 | G>S | No |
ClinGen gnomAD |
|
|
CA398263983 rs868918555 |
129 | G>V | No |
ClinGen Ensembl |
|
|
rs1555562555 CA398263986 |
130 | F>V | No |
ClinGen gnomAD |
|
|
rs782196146 CA8451103 |
131 | M>T | No |
ClinGen ExAC |
|
|
CA398264002 rs782031330 |
132 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782405437 CA8451104 |
132 | A>P | No |
ClinGen ExAC |
|
| TCGA novel | 132 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782031330 CA8451105 |
132 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451110 rs782714725 |
133 | A>D | No |
ClinGen ExAC |
|
|
rs782714725 CA398264005 |
133 | A>G | No |
ClinGen ExAC |
|
|
rs781972787 CA8451109 |
133 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs781972787 CA398264004 |
133 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs781972787 CA8451108 |
133 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1597586290 CA398264008 |
134 | F>L | No |
ClinGen Ensembl |
|
|
rs781894292 CA8451111 |
135 | L>I | No |
ClinGen ExAC |
|
|
CA8451114 rs781875412 |
136 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782604418 CA8451116 |
138 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782604418 CA398264034 |
138 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs76265595 CA8451119 |
139 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536297311 COSM3402672 CA8451121 |
140 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA398264048 rs1555562564 |
140 | T>S | No |
ClinGen gnomAD |
|
|
rs1555562568 CA398264053 |
141 | Q>* | No |
ClinGen gnomAD |
|
|
rs76518282 CA8451124 |
142 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282267337 CA398264061 |
142 | T>S | No |
ClinGen TOPMed |
|
|
CA398264063 rs76518282 |
142 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781935457 CA8451126 |
143 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1555562574 CA398264068 |
143 | T>I | No |
ClinGen gnomAD |
|
|
CA398264066 rs1555562574 |
143 | T>N | No |
ClinGen gnomAD |
|
|
CA8451128 rs555222028 |
144 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1385418088 CA398264079 |
145 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs75029097 CA8451129 |
145 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782723700 CA8451131 |
146 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782138834 CA8451130 |
146 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555562580 CA398264081 |
146 | Y>H | No |
ClinGen gnomAD |
|
|
rs137885339 CA8451133 |
147 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782720414 CA8451134 |
148 | L>M | No |
ClinGen ExAC |
|
|
CA398264093 rs1555562587 |
148 | L>P | No |
ClinGen gnomAD |
|
|
CA8451136 rs142309738 |
149 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM3421342 CA8451137 rs534524767 |
149 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs534524767 CA398264098 |
149 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8451139 rs781872665 |
150 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs781872665 CA8451138 |
150 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8451140 rs373025520 COSM182986 |
152 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA289009603 COSM106418 rs147065782 |
154 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs782696863 CA8451143 |
155 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA398264134 rs782696863 |
155 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8451145 rs1714864 VAR_049672 |
156 | P>L | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
|
rs782256316 CA398264138 |
156 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782256316 CA8451144 |
156 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM394162 CA398264143 rs1597586485 |
157 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs782309264 CA8451148 |
158 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs139984724 CA8451151 |
159 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA398264159 rs1555562596 |
160 | F>L | No |
ClinGen gnomAD |
|
|
rs1220898617 CA398264169 |
161 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8451152 rs781986225 |
161 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA398264178 rs1362133712 |
162 | V>G | No |
ClinGen TOPMed |
|
|
CA398264175 rs564736820 |
162 | V>L | No |
ClinGen gnomAD |
|
|
CA289009641 rs564736820 |
162 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 164 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8451153 rs782131045 |
164 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555562604 CA398264190 |
165 | Q>* | No |
ClinGen gnomAD |
|
|
CA398264195 rs1555562605 |
165 | Q>L | No |
ClinGen gnomAD |
|
|
rs1555562606 CA398264203 |
166 | S>F | No |
ClinGen gnomAD |
|
|
CA398264209 rs781908591 |
167 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782809139 CA8451157 |
167 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398264205 rs1555562610 |
167 | I>V | No |
ClinGen gnomAD |
|
|
CA8451159 rs376515121 |
168 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555562614 CA398264217 |
169 | G>R | No |
ClinGen gnomAD |
|
|
rs1555562614 CA398264216 |
169 | G>S | No |
ClinGen gnomAD |
|
|
CA398264226 rs1326506521 |
170 | C>F | No |
ClinGen TOPMed |
|
|
CA398264222 rs1555562616 |
170 | C>R | No |
ClinGen gnomAD |
|
|
CA8451160 rs782645464 |
171 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA398264236 rs1555562622 |
172 | I>V | No |
ClinGen gnomAD |
|
|
rs1367320610 CA398264246 |
173 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs73313922 CA8451161 |
173 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563414106 CA289009676 |
174 | S>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA398264260 rs1164009622 |
175 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs782565286 CA8451163 |
176 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1555562632 CA398264274 |
177 | I>T | No |
ClinGen gnomAD |
|
|
rs1555562629 CA398264271 |
177 | I>V | No |
ClinGen gnomAD |
|
|
rs1555562637 CA398264280 |
178 | G>D | No |
ClinGen gnomAD |
|
|
CA398264277 rs1555562636 |
178 | G>S | No |
ClinGen gnomAD |
|
|
CA8451165 rs782396521 |
179 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417694257 CA398264283 |
179 | A>T | No |
ClinGen TOPMed |
|
|
CA398264287 rs782396521 |
179 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398264289 rs1475820788 |
180 | I>V | No |
ClinGen TOPMed |
|
|
COSM349288 CA398264302 rs1555562644 |
181 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA398264296 rs1555562643 |
181 | M>V | No |
ClinGen gnomAD |
|
|
CA398264307 rs1597586666 |
182 | A>D | No |
ClinGen Ensembl |
|
| TCGA novel | 183 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555562645 CA398264319 |
184 | M>V | No |
ClinGen gnomAD |
|
|
rs782390309 CA8451168 |
185 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8451169 rs73979896 |
185 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451171 rs782718630 |
186 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1555562652 CA398264336 |
186 | R>S | No |
ClinGen gnomAD |
|
|
CA398264342 rs1555562654 |
187 | P>L | No |
ClinGen gnomAD |
|
|
rs1597586709 CA398264339 |
187 | P>S | No |
ClinGen Ensembl |
|
|
rs1293101219 CA398264350 |
188 | K>N | No |
ClinGen TOPMed |
|
|
CA398264347 rs1555562655 COSM1255339 |
188 | K>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1555562656 CA398264356 |
189 | K>M | No |
ClinGen gnomAD |
|
|
rs145471133 CA8451175 |
190 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398264359 rs372398945 |
190 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372398945 CA8451177 |
190 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372398945 CA8451176 |
190 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8451173 COSM252559 rs145471133 |
190 | R>W | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8451179 rs782447554 |
191 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555562659 CA398264364 |
191 | A>V | No |
ClinGen gnomAD |
|
|
CA8451181 VAR_059367 rs1657742 |
192 | Q>H | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs782661783 CA8451180 |
192 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8451182 rs369762448 |
193 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA398264371 rs1597586798 |
193 | T>P | No |
ClinGen Ensembl |
|
|
rs369762448 CA398264375 |
193 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8451186 rs782586492 |
196 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA398264408 rs1555562665 |
198 | H>Q | No |
ClinGen gnomAD |
|
|
CA398264403 rs1597586830 |
198 | H>Y | No |
ClinGen Ensembl |
|
|
rs73313923 CA8451188 |
199 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555562666 CA398264412 |
199 | N>S | No |
ClinGen gnomAD |
|
|
rs1555562667 CA398264416 |
200 | A>D | No |
ClinGen gnomAD |
|
|
rs561218777 CA8451189 |
200 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs561218777 CA8451191 |
200 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs561218777 CA8451190 |
200 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1555562667 CA398264418 |
200 | A>V | No |
ClinGen gnomAD |
|
|
rs147680561 CA398264419 |
201 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147680561 CA8451193 |
201 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs781883970 CA8451195 |
202 | V>G | No |
ClinGen ExAC |
|
|
CA8451194 rs782700053 |
202 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8451196 rs1555562672 |
203 | A>T | No |
ClinGen Ensembl |
|
|
CA8451199 rs528338321 |
205 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA398264438 rs528338321 |
205 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs546877383 COSM705920 CA8451200 |
205 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs528338321 COSM1520423 CA398264439 |
205 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA8451203 rs782625440 |
207 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA8451202 rs782625440 |
207 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs782546433 CA8451204 |
209 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8451206 rs72846667 |
211 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555562684 CA398264477 |
211 | L>P | No |
ClinGen gnomAD |
|
|
CA8451207 rs782395162 |
212 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA398264481 rs1555562685 |
212 | M>V | No |
ClinGen gnomAD |
|
|
CA289009782 rs564699102 |
213 | W>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA8451208 rs782607629 |
213 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs782232946 CA8451209 |
214 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs782311972 CA8451210 |
214 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782311972 CA398264498 |
214 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs782311972 CA398264497 |
214 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs782232946 CA398264495 |
214 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782418269 CA8451213 |
215 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs782136097 CA8451212 |
215 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs781983715 CA8451214 |
216 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs782725860 CA8451216 |
216 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781983715 COSM2798989 CA8451215 |
216 | G>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs782049190 CA8451218 |
217 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA8451219 rs782786776 |
218 | L>M | No |
ClinGen ExAC |
|
|
CA8451220 rs373903627 COSM1740387 |
219 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
COSM1179419 rs782786111 CA8451222 |
219 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs373903627 CA8451221 |
219 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1555562692 CA398264521 |
220 | K>E | No |
ClinGen gnomAD |
|
|
rs1555562693 CA398264526 |
220 | K>N | No |
ClinGen gnomAD |
|
|
rs532216867 CA8451224 |
221 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs532216867 CA8451225 |
221 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1555562696 CA398264538 |
222 | H>R | No |
ClinGen gnomAD |
|
|
rs1555562699 CA398264546 |
223 | I>T | No |
ClinGen gnomAD |
|
|
CA398264543 rs1555562697 |
223 | I>V | No |
ClinGen gnomAD |
|
|
rs782538222 CA8451227 |
224 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs782184872 CA8451226 |
224 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs782668639 CA8451228 |
225 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA398264560 rs1555562701 |
226 | A>T | No |
ClinGen gnomAD |
|
|
CA8451229 rs782236824 |
226 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs377058098 CA8451231 |
227 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373382377 COSM1211518 CA8451235 |
229 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
CA8451236 rs782160771 |
229 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA398264581 rs782160771 |
229 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8451238 rs111766997 |
230 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1470893 rs377513949 CA8451239 |
230 | A>V | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1555562708 CA398264590 |
231 | Q>R | No |
ClinGen gnomAD |
|
|
CA398264596 rs1234979351 |
232 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1555562710 CA398264599 |
232 | L>H | No |
ClinGen gnomAD |
|
|
rs782780500 CA8451243 |
233 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782780500 CA398264600 |
233 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398264605 rs1555562713 |
233 | I>M | No |
ClinGen gnomAD |
|
|
CA398264603 rs1262083271 |
233 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs781897258 CA8451244 |
234 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8451245 rs782490933 |
235 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM139054 rs782653432 CA8451246 |
235 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8451250 rs782199360 |
236 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782569468 CA8451249 COSM976603 |
236 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 237 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371018017 CA398264620 |
237 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8451252 rs77048459 |
239 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451253 rs782260932 |
240 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs782343858 CA8451254 |
241 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782343858 CA398264649 |
241 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782343858 CA8451255 |
241 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398264656 rs1597587256 |
242 | E>D | No |
ClinGen Ensembl |
|
|
rs1334953321 CA398264660 |
243 | Y>H | No |
ClinGen TOPMed |
|
|
rs782011713 CA398264666 |
244 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs782011713 CA8451258 |
244 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs140875968 CA8451260 COSM436191 |
245 | P>L | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs782078935 CA398264678 |
246 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451265 rs566882228 |
248 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8451267 rs4985866 VAR_049673 |
249 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8451269 rs782611604 |
250 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA398264704 COSM1324108 rs782611604 |
250 | D>Y | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1242214000 CA398264711 |
251 | I>V | No |
ClinGen TOPMed |
|
|
rs1214397817 CA398264722 |
252 | D>E | No |
ClinGen TOPMed |
|
|
rs145578286 CA8451271 |
252 | D>N | Variant assessed as Somatic; 0.004335 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782582814 CA8451273 |
254 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398264742 COSM1255341 rs559211343 |
255 | F>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs529503169 CA289009957 |
256 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529503169 CA8451276 COSM1381529 |
256 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8451277 rs529503169 |
256 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555562732 CA398264749 |
257 | K>E | No |
ClinGen gnomAD |
|
|
rs1381761243 CA398264756 |
258 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs781966972 CA8451279 |
259 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451280 rs782044119 |
259 | L>Q | No |
ClinGen ExAC |
|
|
rs781966972 CA398264762 |
259 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451282 rs782726273 |
260 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781886406 CA8451283 |
261 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs77270326 CA8451284 |
261 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs76684759 CA8451286 |
262 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137932106 CA8451288 |
263 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA398264792 rs1555562738 |
264 | L>P | No |
ClinGen gnomAD |
|
|
rs144590967 CA8451291 |
266 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA398264801 rs1555562744 |
266 | S>P | No |
ClinGen gnomAD |
|
|
CA398264805 rs1555562748 |
267 | P>T | No |
ClinGen gnomAD |
|
|
CA8451295 rs782226777 |
269 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA398264820 rs1555562749 |
269 | T>S | No |
ClinGen gnomAD |
|
|
CA8451298 rs782145166 |
270 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8451297 rs781932711 |
270 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA398264830 rs1555562754 |
271 | L>* | No |
ClinGen gnomAD |
|
|
CA398264833 rs1555562755 |
271 | L>F | No |
ClinGen gnomAD |
|
|
CA398264841 CA398264840 rs76493573 |
272 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782005516 CA8451300 |
272 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA8451303 rs1657744 |
273 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398264853 rs1555562757 |
274 | I>T | No |
ClinGen gnomAD |
|
|
CA8451306 rs375466482 |
276 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782505061 CA8451307 |
277 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA8451308 rs782505061 |
277 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA398264880 rs1383846424 |
278 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8451310 rs77176173 |
278 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451311 rs782564885 |
279 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555562763 CA398264889 |
280 | L>F | No |
ClinGen gnomAD |
|
|
CA398264898 rs1424602371 |
281 | F>C | No |
ClinGen TOPMed |
|
|
rs139358757 CA8451313 |
281 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398264901 rs782257483 |
282 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451315 rs782257483 |
282 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451316 rs782345840 |
282 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs782189078 CA8451318 |
283 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451319 rs782335706 |
283 | I>N | No |
ClinGen ExAC |
|
|
rs782189078 CA398264904 |
283 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782745954 CA8451322 |
284 | S>G | No |
ClinGen ExAC |
|
|
rs1555562772 CA398264911 |
284 | S>N | No |
ClinGen gnomAD |
|
|
CA8451323 rs781994753 |
284 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA398264916 rs147282721 |
285 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147282721 CA8451326 |
285 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8451325 rs147282721 |
285 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143946927 CA8451324 |
285 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782794400 CA8451329 |
286 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs782794400 CA8451328 |
286 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs782530067 CA8451330 |
286 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1555562782 CA398264926 |
287 | D>G | No |
ClinGen gnomAD |
|
|
rs782443200 CA398264932 |
288 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782443200 CA8451333 |
288 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451337 rs78113532 |
289 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451338 rs782250971 |
289 | E>D | No |
ClinGen ExAC |
|
|
CA8451336 rs78113532 |
289 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782335120 CA8451339 |
290 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8451341 rs77987694 |
290 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8451340 rs77987694 |
290 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555562796 CA398264946 |
291 | D>G | No |
ClinGen gnomAD |
|
|
rs782165680 CA8451344 |
292 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA398264952 rs782165680 |
292 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8451343 COSM472435 rs782016013 |
292 | D>N | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA398264951 rs782016013 |
292 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA398264960 rs1555562801 |
293 | F>S | No |
ClinGen gnomAD |
|
|
CA8451345 rs782763709 |
294 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA398264965 rs1225527536 |
294 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs781823863 CA8451346 |
295 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562361365 CA8451348 |
296 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8451349 rs562361365 |
296 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1555562811 CA398264984 |
297 | V>A | No |
ClinGen gnomAD |
|
|
CA8451351 rs80335301 |
297 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 298 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555562813 CA398265009 |
301 | G>D | No |
ClinGen gnomAD |
|
|
CA8451356 rs74801394 |
302 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398265014 rs1305475894 |
302 | M>L | No |
ClinGen TOPMed |
|
|
rs782512874 CA8451355 |
302 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1396228182 CA398265022 |
303 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA398265036 rs1555562818 |
305 | A>D | No |
ClinGen gnomAD |
|
|
rs782302611 CA8451358 |
307 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1374393070 CA398265047 |
307 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs782591174 CA8451359 |
309 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs782276836 CA8451360 |
310 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs781982666 CA8451362 |
312 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8451364 rs142223673 |
313 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8451365 rs142223673 |
313 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8451366 COSM1479336 rs782063430 |
313 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8451370 rs782770730 |
318 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451371 rs781830874 |
318 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451372 rs566710314 |
319 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8451374 rs781810773 |
321 | I>F | No |
ClinGen ExAC TOPMed |
|
|
rs880001183 CA398265139 |
322 | L>P | No |
ClinGen TOPMed |
|
|
CA8451376 rs782675954 |
323 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs782550289 CA8451375 |
323 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA398265150 rs527723052 |
324 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555562833 CA398265151 |
324 | G>D | No |
ClinGen gnomAD |
|
|
CA8451377 rs527723052 |
324 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA398265152 rs1555562833 |
324 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 325 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393466844 CA398265155 |
325 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8451379 rs552588866 |
326 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571189780 CA8451380 |
326 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538426112 CA8451381 |
327 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs556759239 CA8451383 |
329 | P>T | No |
ClinGen 1000Genomes ExAC |
|
|
rs782752483 CA8451387 |
330 | V>A | No |
ClinGen ExAC gnomAD |
|
|
COSM359076 CA8451385 rs368741477 |
330 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA8451386 rs368741477 |
330 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 331 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782072410 CA8451391 |
333 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs781905868 CA8451393 |
333 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782072410 CA8451392 |
333 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1555562854 CA398265205 |
333 | E>V | No |
ClinGen gnomAD |
|
|
CA8451395 rs782497648 |
334 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA398265208 rs1460102846 |
334 | E>K | No |
ClinGen TOPMed |
|
|
CA8451396 rs782793842 |
335 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA398265220 rs1555562866 |
335 | K>N | No |
ClinGen gnomAD |
|
|
rs1265102719 CA398265229 |
336 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1555562868 CA398265230 |
337 | Q>* | No |
ClinGen gnomAD |
|
|
rs1555562868 COSM367872 CA398265231 |
337 | Q>E | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1555562869 CA398265233 |
337 | Q>R | No |
ClinGen gnomAD |
|
|
rs370106209 CA289010270 |
338 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145451008 CA8451398 |
338 | Y>C | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs145451008 CA8451397 |
338 | Y>F | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
| TCGA novel | 338 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350635699 CA398265245 |
339 | K>Q | No |
ClinGen TOPMed |
|
|
CA8451400 rs373244146 |
340 | I>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
COSM77932 rs80203231 CA8451402 |
343 | S>L | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8451403 rs80203231 |
343 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451407 rs572748949 |
346 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8451408 rs572748949 |
346 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA398265301 rs1555562878 |
347 | K>E | No |
ClinGen gnomAD |
|
|
rs782025512 CA8451409 |
347 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 347 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451481215 CA398265319 |
349 | Y>* | No |
ClinGen TOPMed |
|
|
rs1555562881 CA398265316 |
349 | Y>F | No |
ClinGen gnomAD |
|
|
CA398265314 rs1555562880 |
349 | Y>H | No |
ClinGen gnomAD |
|
|
CA398265326 CA398265327 rs1555562884 |
350 | E>D | No |
ClinGen gnomAD |
|
|
CA398265320 rs1555562883 |
350 | E>K | No |
ClinGen gnomAD |
|
|
rs782162883 CA398265332 |
351 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451410 rs782162883 |
351 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398265337 rs1567709028 |
352 | P>L | No |
ClinGen Ensembl |
|
|
CA8451411 rs540250798 |
352 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782000239 CA8451412 |
353 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398265342 rs782000239 |
353 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156731513 CA398265344 |
354 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
COSM1520417 rs140886918 CA8451415 |
354 | T>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8451413 rs140886918 COSM211924 |
354 | T>M | large_intestine Variant assessed as Somatic; 4.619e-05 impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs140886918 CA8451414 |
354 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1156731513 CA398265343 |
354 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1555562898 CA398265350 |
355 | P>L | No |
ClinGen gnomAD |
|
|
CA8451417 rs782807769 |
355 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451418 COSM976607 rs144639343 |
356 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA398265352 rs144639343 |
356 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138394714 CA8451419 COSM75084 |
356 | R>H | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA398265354 rs138394714 |
356 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398265361 rs1282846326 |
357 | C>* | No |
ClinGen TOPMed |
|
|
CA398265358 rs1555562900 |
357 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 358 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782601375 CA8451420 |
358 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA398265365 rs782232164 |
358 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs782232164 CA398265366 |
358 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA8451421 rs782232164 |
358 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs782285426 CA398265371 |
359 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451423 COSM3717234 rs782590454 |
359 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs782285426 CA8451424 |
359 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451426 rs782636469 |
360 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1555562905 CA398265380 |
361 | D>N | No |
ClinGen gnomAD |
|
|
CA398265394 rs1555562908 |
363 | V>L | No |
ClinGen gnomAD |
|
|
rs1285570110 CA398265399 |
364 | E>K | No |
ClinGen TOPMed |
|
|
rs781918735 CA8451429 |
365 | N>K | No |
ClinGen ExAC |
|
|
CA8451428 rs782338479 |
365 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA398265425 rs1555562915 |
367 | F>C | No |
ClinGen gnomAD |
|
|
CA8451431 rs782403365 |
370 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA398265443 rs782403365 |
370 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8451433 rs782112636 |
371 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1255342 rs1612176 CA8451434 |
371 | S>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs782698325 CA398265453 |
372 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs377399304 CA8451436 |
372 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782698325 CA8451437 |
372 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555562929 CA398265459 |
373 | N>I | No |
ClinGen gnomAD |
|
|
rs1555562933 CA398265467 |
374 | S>F | No |
ClinGen gnomAD |
|
|
rs1555562941 CA398265475 |
375 | F>L | No |
ClinGen gnomAD |
|
|
rs1475171985 CA398265472 |
375 | F>S | No |
ClinGen TOPMed |
|
|
CA8451439 rs782543359 |
376 | C>G | No |
ClinGen ExAC |
|
|
rs782686688 CA8451440 |
376 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA398265487 rs1657745 |
377 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8451442 rs782523167 |
377 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451443 rs782523167 |
377 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362024865 CA398265491 |
378 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8451445 rs78547883 |
378 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78547883 CA398265489 |
378 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451447 rs200006342 |
379 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555562948 CA398265508 |
380 | E>D | No |
ClinGen gnomAD |
|
|
CA8451448 rs148164273 |
380 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398265513 rs1597588406 |
381 | L>R | No |
ClinGen Ensembl |
|
|
rs1267929234 CA398265516 |
382 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1267929234 CA398265517 |
382 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1255344 CA8451450 rs782079393 |
382 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1267929234 CA398265518 |
382 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1555562954 CA398265522 |
383 | F>Y | No |
ClinGen gnomAD |
|
|
rs1555562957 CA398265530 |
384 | L>R | No |
ClinGen gnomAD |
|
|
CA8451453 rs782069855 |
385 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA8451452 rs781926371 |
385 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA8451454 rs376592326 |
386 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8451455 rs781906064 |
386 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA398265541 rs781906064 |
386 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144041366 CA398265549 CA398265548 |
387 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs562297706 CA398265550 |
388 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562297706 CA8451457 |
388 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8451458 rs562297706 |
388 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1409636935 CA398265557 |
389 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8451460 rs782576434 |
390 | D>G | No |
ClinGen ExAC |
|
|
CA8451459 rs782490035 |
390 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8451463 rs541946650 |
392 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782464648 CA8451465 |
393 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398265584 rs782464648 |
393 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398265593 rs1555562970 |
394 | G>A | No |
ClinGen gnomAD |
|
|
CA8451467 rs376362557 |
394 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398265601 rs1204215289 |
395 | D>E | No |
ClinGen TOPMed |
|
|
CA398265599 rs1555562971 |
395 | D>G | No |
ClinGen gnomAD |
|
|
CA398265595 rs1490967056 |
395 | D>H | No |
ClinGen TOPMed |
|
|
CA398265597 rs1490967056 |
395 | D>N | No |
ClinGen TOPMed |
|
|
rs1555562974 CA398265610 |
396 | Q>H | No |
ClinGen gnomAD |
|
|
rs1555562973 CA398265607 |
396 | Q>R | No |
ClinGen gnomAD |
|
|
rs72846670 CA8451470 |
397 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782333305 CA8451468 |
397 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs782375076 CA8451472 |
398 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs782375076 CA8451471 |
398 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8451473 rs144702327 |
399 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782746237 CA398265623 |
399 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 399 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8451474 rs782746237 |
399 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555562981 CA398265625 |
400 | S>C | No |
ClinGen gnomAD |
|
|
CA398265627 rs1555562982 |
400 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8451475 rs781921645 |
400 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs781849043 CA398265632 |
401 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781849043 CA398265633 |
401 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781849043 CA8451478 |
401 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782148726 CA8451476 |
401 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2917720 CA8451483 |
402 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782715315 CA8451481 |
402 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs782525665 CA8451479 |
402 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs782577366 CA8451484 |
403 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782549834 CA8451486 |
403 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451485 rs782577366 |
403 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1466269651 CA398265644 |
404 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA8451487 rs782649176 |
404 | L>H | No |
ClinGen ExAC |
|
| TCGA novel | 405 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs73979902 CA8451489 |
405 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs73979902 CA398265649 |
405 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451488 rs140886041 |
405 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398265651 rs564486905 |
405 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8451493 rs782407309 |
406 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782407309 CA8451494 |
406 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451492 rs782407309 |
406 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451491 COSM705914 rs782185268 |
406 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA8451496 rs200772314 |
407 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8451497 rs782091094 |
408 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA398265664 rs1200142387 |
408 | A>S | No |
ClinGen TOPMed |
|
|
rs782091094 CA398265666 |
408 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8451498 rs201223000 |
409 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781800042 CA8451499 |
409 | R>S | No |
ClinGen ExAC |
|
|
CA8451502 rs781862476 |
410 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs550496794 CA8451501 |
410 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781862476 CA398265673 |
410 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs568552866 CA8451503 |
410 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs550496794 CA8451500 |
410 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782595955 CA8451504 |
411 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA398265680 rs1201192489 |
411 | D>G | No |
ClinGen TOPMed |
|
|
CA8451508 rs782586759 |
413 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782432903 CA8451506 |
413 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 415 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA289010625 rs112154887 |
415 | L>P | No |
ClinGen Ensembl |
|
|
rs549297035 CA289010622 |
415 | L>V | No |
ClinGen Ensembl |
|
|
rs782374936 CA398265719 |
417 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451510 rs782374936 |
417 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398265723 rs1223062316 |
418 | G>S | No |
ClinGen TOPMed |
|
|
CA398265726 rs1370906395 |
418 | G>V | No |
ClinGen TOPMed |
|
|
rs77266866 CA398265727 |
419 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs77266866 CA8451512 |
419 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8451515 rs782059341 |
420 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8451514 rs375519519 |
420 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782059341 CA398265735 |
420 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs201975437 CA289010654 |
421 | V>A | No |
ClinGen gnomAD |
|
|
rs201975437 CA398265738 |
421 | V>D | No |
ClinGen gnomAD |
|
|
CA8451516 rs782396557 |
421 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs782042622 CA8451517 |
423 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868965229 CA398265750 |
423 | E>D | No |
ClinGen Ensembl |
|
|
CA398265748 rs782042622 |
423 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382566227 CA398265752 |
424 | Q>K | No |
ClinGen TOPMed |
|
|
CA8451520 rs781829352 |
425 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451519 rs782786069 |
425 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA398265768 rs1439956093 |
426 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 426 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555563026 CA398265773 |
427 | Y>C | No |
ClinGen gnomAD |
|
|
rs782706974 CA8451522 |
427 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA8451524 rs782562270 |
428 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8451527 rs782470361 |
429 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398265784 rs782470361 |
429 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8451526 rs781867776 |
429 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_059368 CA8451528 rs5021699 |
430 | E>G | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA398265785 rs1256587233 |
430 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 430 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555563031 CA398265811 |
433 | I>M | No |
ClinGen gnomAD |
|
|
CA8451530 rs782314026 |
433 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q14500
3 regional properties for Q14500
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| intrinsic component of membrane | The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| inward rectifier potassium channel activity | Enables the transmembrane transfer of a potassium ion by an inwardly-rectifying voltage-gated channel. An inwardly rectifying current-voltage relation is one where at any given driving force the inward flow of K+ ions exceeds the outward flow for the opposite driving force. The inward-rectification is due to a voltage-dependent block of the channel pore by a specific ligand or ligands, and as a result the macroscopic conductance depends on the difference between membrane voltage and the K+ equilibrium potential rather than on membrane voltage itself. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
| potassium ion import across plasma membrane | The directed movement of potassium ions from outside of a cell, across the plasma membrane and into the cytosol. |
| potassium ion transport | The directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| protein homotetramerization | The formation of a protein homotetramer, a macromolecular structure consisting of four noncovalently associated identical subunits. |
| regulation of heart contraction | Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body. |
| regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q4TZY1 | KCNJ12 | ATP-sensitive inward rectifier potassium channel 12 | Bos taurus (Bovine) | PR |
| F1NHE9 | KCNJ12 | ATP-sensitive inward rectifier potassium channel 12 | Gallus gallus (Chicken) | PR |
| B7U540 | KCNJ18 | Inward rectifier potassium channel 18 | Homo sapiens (Human) | PR |
| Q14654 | KCNJ11 | ATP-sensitive inward rectifier potassium channel 11 | Homo sapiens (Human) | PR |
| Q15842 | KCNJ8 | ATP-sensitive inward rectifier potassium channel 8 | Homo sapiens (Human) | PR |
| P48549 | KCNJ3 | G protein-activated inward rectifier potassium channel 1 | Homo sapiens (Human) | PR |
| P97794 | Kcnj8 | ATP-sensitive inward rectifier potassium channel 8 | Mus musculus (Mouse) | PR |
| Q8JZN3 | Kcnj14 | ATP-sensitive inward rectifier potassium channel 14 | Mus musculus (Mouse) | PR |
| P52189 | Kcnj4 | Inward rectifier potassium channel 4 | Mus musculus (Mouse) | PR |
| Q9Z307 | Kcnj16 | Inward rectifier potassium channel 16 | Mus musculus (Mouse) | PR |
| Q61743 | Kcnj11 | ATP-sensitive inward rectifier potassium channel 11 | Mus musculus (Mouse) | PR |
| P52187 | Kcnj12 | ATP-sensitive inward rectifier potassium channel 12 | Mus musculus (Mouse) | PR |
| Q63664 | Kcnj8 | ATP-sensitive inward rectifier potassium channel 8 | Rattus norvegicus (Rat) | PR |
| P70673 | Kcnj11 | ATP-sensitive inward rectifier potassium channel 11 | Rattus norvegicus (Rat) | PR |
| P52188 | Kcnj12 | ATP-sensitive inward rectifier potassium channel 12 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTAASRANPY | SIVSSEEDGL | HLVTMSGANG | FGNGKVHTRR | RCRNRFVKKN | GQCNIEFANM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DEKSQRYLAD | MFTTCVDIRW | RYMLLIFSLA | FLASWLLFGI | IFWVIAVAHG | DLEPAEGRGR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TPCVMQVHGF | MAAFLFSIET | QTTIGYGLRC | VTEECPVAVF | MVVAQSIVGC | IIDSFMIGAI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MAKMARPKKR | AQTLLFSHNA | VVALRDGKLC | LMWRVGNLRK | SHIVEAHVRA | QLIKPRVTEE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GEYIPLDQID | IDVGFDKGLD | RIFLVSPITI | LHEIDEASPL | FGISRQDLET | DDFEIVVILE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GMVEATAMTT | QARSSYLANE | ILWGHRFEPV | LFEEKNQYKI | DYSHFHKTYE | VPSTPRCSAK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DLVENKFLLP | SANSFCYENE | LAFLSRDEED | EADGDQDGRS | RDGLSPQARH | DFDRLQAGGG |
| 430 | |||||
| VLEQRPYRRE | SEI |