O43548
PR
Gene name |
TGM5 (TGMX) |
Protein name |
Protein-glutamine gamma-glutamyltransferase 5 |
Names |
Transglutaminase X, TG(X), TGX, TGase X, Transglutaminase-5, TGase-5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9333 |
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 O43548
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O43548-F1 | Predicted | AlphaFoldDB |
643 variants for O43548
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA7521456 rs61744878 RCV000290717 RCV000957935 |
15 | S>C | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000624882 CA7521439 RCV000520047 rs749224503 |
35 | R>Q | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA170980 RCV000144913 RCV000442177 rs143601447 |
41 | L>P | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs148913728 CA7521435 RCV000958689 RCV001115685 |
42 | T>N | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs757831590 RCV000385164 CA7521431 |
56 | N>I | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000778431 RCV001008784 rs778322388 |
86 | S>missing | Acral peeling skin syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001115684 rs138507857 CA7521399 |
86 | S>R | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs116753155 RCV000285208 COSM1578745 CA291279 RCV000906173 |
105 | C>Y | Acral peeling skin syndrome meninges [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000256230 rs113463533 CA291281 VAR_025848 RCV000882550 |
109 | T>M | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000340380 RCV000006411 CA117921 VAR_025849 rs112292549 RCV000623924 |
113 | G>C | Inborn genetic diseases Acral peeling skin syndrome PSS2; completely abolishes the enzyme activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7521331 RCV001120599 rs115121346 |
170 | Q>R | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7521286 RCV001120598 rs758206600 |
200 | K>N | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs777982827 CA7521285 RCV001120597 |
203 | H>Y | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs606231277 RCV000144914 RCV000989297 |
214 | L>missing | Peeling skin syndrome 1 Acral peeling skin syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7521226 RCV000319229 rs35578968 RCV002520959 |
241 | N>K | Inborn genetic diseases Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA170978 rs115677373 RCV000144912 |
255 | W>R | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000313545 rs116616135 CA7521195 |
274 | R>H | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs775889084 RCV001118655 CA7521197 |
274 | R>S | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1372986 RCV002269336 RCV001118653 rs144575810 CA7521189 |
284 | V>I | large_intestine Acral peeling skin syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000370976 CA10646007 rs886051172 |
299 | I>M | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs201805126 RCV000907618 CA7521132 RCV000344298 |
330 | K>M | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs28756768 VAR_013249 CA7521102 RCV001786363 RCV000310343 |
352 | A>G | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7521029 rs144961145 RCV000380033 |
418 | Q>K | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000341790 rs375323388 CA7521016 |
437 | R>W | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA170976 rs606231276 RCV001550760 RCV000144911 |
445 | K>N | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000279521 CA7520964 rs552005220 |
491 | P>S | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000371924 rs144532387 CA7520959 |
500 | R>* | Variant assessed as Somatic; 0.0 impact. Acral peeling skin syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000319544 rs7171797 RCV001707648 VAR_052564 CA7520954 |
504 | V>M | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001115594 rs2042583648 |
518 | N>D | Acral peeling skin syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs35985214 VAR_052565 RCV000262027 CA7520945 |
521 | Q>R | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001120496 CA7520891 rs146901531 |
584 | Y>H | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs606231278 RCV000144915 |
604 | S>missing | Acral peeling skin syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7520882 rs80192997 RCV000276866 |
607 | E>A | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7520880 RCV000369180 rs76456763 |
608 | K>E | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD |
|
RCV001120495 CA7520869 RCV002558195 rs143722994 |
623 | T>M | Inborn genetic diseases Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7520844 rs773549912 RCV001120202 |
631 | V>L | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001120200 rs80058195 CA7520833 |
657 | V>A | Acral peeling skin syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs775820836 CA7521493 |
3 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186218449 CA392107654 |
5 | L>I | No |
ClinGen TOPMed |
|
|
rs757099140 CA7521458 |
5 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA392107620 rs1566837193 |
7 | V>G | No |
ClinGen Ensembl |
|
|
rs1344789730 CA392107626 |
7 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1344789730 CA392107630 |
7 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA392107610 rs1421873292 |
8 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1421873292 CA392107612 |
8 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA392107579 rs1455040462 |
11 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 11 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs978914458 CA269982071 |
14 | S>N | No |
ClinGen TOPMed |
|
|
CA269982055 rs968519376 |
15 | S>A | No |
ClinGen TOPMed |
|
|
rs781362413 CA392107478 |
16 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781362413 CA7521455 |
16 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927318290 CA269982028 |
17 | N>T | No |
ClinGen Ensembl |
|
|
rs755308422 CA392107454 |
18 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs755308422 CA7521454 |
18 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA7521453 rs751825107 |
18 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7521452 rs766704114 |
19 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs750713894 CA392107404 |
20 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs750713894 CA7521450 |
20 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763398483 CA392107409 |
20 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7521449 rs765778955 |
22 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs762254555 CA7521448 |
23 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA7521446 rs201392336 |
25 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554797534 CA269981968 |
26 | I>N | No |
ClinGen Ensembl |
|
|
CA7521445 rs201776789 |
30 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775183503 CA7521444 |
31 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7521443 rs771572300 |
32 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA392107153 rs771572300 |
32 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs745702903 CA7521442 |
33 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7521441 rs778501807 |
34 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs749224503 CA392107049 |
35 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM2150410 rs370983556 CA7521440 |
35 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA392107041 rs1195384803 |
36 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7521438 rs148043109 |
36 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs548499956 CA7521436 CA7521437 |
37 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA392106996 rs1211285476 |
38 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 40 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148913728 CA392106856 |
42 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392106887 rs1596451754 |
42 | T>P | No |
ClinGen Ensembl |
|
|
rs374809601 CA7521434 |
43 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1016291082 CA269981882 |
43 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA392106833 rs1432786198 |
44 | Y>H | No |
ClinGen TOPMed |
|
|
CA392106773 rs1220699187 |
45 | F>C | No |
ClinGen gnomAD |
|
|
CA392106800 rs1175367573 |
45 | F>L | No |
ClinGen TOPMed |
|
|
CA392106734 rs1402663423 |
46 | R>S | No |
ClinGen TOPMed |
|
|
rs765509382 CA7521432 |
47 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1405028295 COSM315895 CA392106680 |
48 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM273344 CA392106687 rs1409105577 |
48 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA269981863 rs199859260 |
57 | I>F | No |
ClinGen Ensembl |
|
|
rs1461100632 CA392106423 |
57 | I>T | No |
ClinGen gnomAD |
|
|
CA7521430 rs754314706 |
59 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs763646106 CA7521429 |
60 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA392106337 rs1370049359 |
61 | V>A | No |
ClinGen gnomAD |
|
|
rs1188362503 CA392106342 |
61 | V>I | No |
ClinGen Ensembl |
|
|
rs778802739 CA7521415 |
65 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA392106164 rs778802739 |
65 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA392106113 rs757598618 |
67 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7521413 rs757598618 VAR_013248 |
67 | P>S | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA392106053 rs1210678939 |
68 | D>E | No |
ClinGen gnomAD |
|
|
CA7521411 rs764613645 |
70 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1238721744 CA392105978 |
71 | L>S | No |
ClinGen gnomAD |
|
|
CA392105989 rs1421504408 |
71 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7521410 rs756507040 |
73 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs766923465 CA7521408 |
74 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7521409 rs752261247 |
74 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 75 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7521407 rs759299555 |
75 | A>S | No |
ClinGen ExAC |
|
|
CA269981612 COSM377870 rs1033054278 |
76 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7521406 rs773842128 |
77 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs766323944 CA7521405 |
78 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201508201 CA7521404 |
78 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773076654 CA7521403 |
81 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7521401 rs546033974 |
81 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA392105742 rs546033974 |
81 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546033974 CA7521402 |
81 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392105738 rs1391677582 |
82 | H>N | No |
ClinGen TOPMed |
|
|
CA392105727 rs1382164561 |
82 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7521396 rs779131925 |
87 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7521397 rs779131925 |
87 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392105630 rs779131925 |
87 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7521398 rs772017957 |
87 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs868603438 CA269981540 |
88 | W>* | No |
ClinGen Ensembl |
|
|
rs1259888980 CA392105592 |
90 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1204958736 CA392105581 |
90 | A>V | No |
ClinGen gnomAD |
|
|
rs112186611 CA7521395 |
93 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1288526426 CA392105528 |
94 | T>A | No |
ClinGen gnomAD |
|
|
rs140876828 CA7521393 |
95 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7521391 rs753139413 |
96 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7521390 rs780793114 |
97 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 97 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 99 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754422250 CA392105425 CA7521389 |
101 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7521388 rs751074706 |
102 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs766136598 CA7521387 |
103 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762637304 CA7521386 |
105 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392105403 rs116753155 |
105 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201552908 CA7521385 |
106 | A>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs912960644 CA269981445 |
108 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs776412511 CA7521384 |
110 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs776412511 CA392105374 |
110 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7521383 rs768591773 |
111 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs759563503 CA7521382 |
111 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs1596451500 CA392105364 |
112 | V>G | No |
ClinGen Ensembl |
|
|
rs1293588234 CA392105368 |
112 | V>L | No |
ClinGen TOPMed |
|
|
CA7521379 COSM1237954 rs771150754 |
114 | R>Q | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA392105357 rs1209114689 |
114 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1485657658 CA392105344 |
116 | L>F | No |
ClinGen gnomAD |
|
|
CA7521378 rs749495385 |
116 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs974988804 CA392105303 |
122 | D>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 122 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA269981378 rs974988804 |
122 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs909728781 CA269981373 |
123 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7521377 rs778176339 |
124 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA7521376 rs575568370 |
127 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748736308 CA7521375 |
128 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA392105256 rs1413920198 |
129 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA392105252 rs1332934087 |
130 | A>V | No |
ClinGen TOPMed |
|
|
rs755448082 CA7521373 |
131 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA7521372 rs751129781 |
132 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7521371 rs141033984 |
132 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392105238 rs1394425582 |
132 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 132 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA269981359 rs1006198612 |
134 | G>A | No |
ClinGen TOPMed |
|
|
CA7521369 rs750072662 |
135 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA392105202 rs1238612468 |
138 | L>Q | No |
ClinGen gnomAD |
|
|
CA392105172 rs1203340074 |
142 | P>L | No |
ClinGen TOPMed |
|
|
rs368554261 CA269981353 |
143 | W>* | No |
ClinGen ESP |
|
|
CA7521366 rs755308442 |
144 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA392105163 rs1212873412 |
144 | C>R | No |
ClinGen gnomAD |
|
|
CA392105152 rs1436515297 |
145 | P>Q | No |
ClinGen gnomAD |
|
|
CA269978598 rs371280622 |
149 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7521343 rs371280622 |
149 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763041078 CA7521341 |
151 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7521340 rs773301454 |
152 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765393561 CA7521339 |
152 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762083182 CA7521338 |
156 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA7521337 rs776929432 |
159 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7521336 rs769035105 |
160 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs747570738 CA7521335 |
163 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776165962 CA7521334 |
166 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392103988 rs1248061558 |
167 | F>L | No |
ClinGen gnomAD |
|
|
rs376810198 CA7521333 |
168 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1012150070 CA269978558 |
168 | I>V | No |
ClinGen TOPMed |
|
|
CA392103962 rs745378997 |
169 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1398971615 CA392103972 |
169 | Y>N | No |
ClinGen TOPMed |
|
|
rs756913319 CA392103933 |
172 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756913319 CA7521330 |
172 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301371871 CA392103900 |
174 | N>T | No |
ClinGen gnomAD |
|
|
rs1346639377 CA392103889 |
175 | W>R | No |
ClinGen TOPMed |
|
|
rs199661290 CA7521329 |
177 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7521328 rs151101573 |
177 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1305250874 CA392103824 |
180 | P>T | No |
ClinGen TOPMed |
|
|
CA392103053 rs1226128528 |
181 | W>R | No |
ClinGen TOPMed |
|
|
CA269978522 rs1000493116 |
185 | Q>* | No |
ClinGen TOPMed |
|
|
CA392102892 rs1299114706 |
185 | Q>R | No |
ClinGen gnomAD |
|
|
CA392101607 rs1400667768 |
187 | E>G | No |
ClinGen gnomAD |
|
|
CA392101562 rs1336392799 |
188 | D>V | No |
ClinGen TOPMed |
|
|
CA7521294 rs762554434 |
189 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195089504 CA392101478 |
190 | I>T | No |
ClinGen TOPMed |
|
|
rs536124224 CA269976212 COSM1608391 |
190 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA392101439 rs1176921817 |
191 | I>T | No |
ClinGen gnomAD |
|
|
CA7521292 rs769449446 |
191 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7521291 rs747794125 |
192 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392101371 rs1258728355 |
193 | I>T | No |
ClinGen gnomAD |
|
|
rs1200759709 CA392101355 |
194 | C>G | No |
ClinGen gnomAD |
|
|
CA7521288 rs746736027 |
198 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1445480418 CA392101178 |
201 | S>G | No |
ClinGen gnomAD |
|
|
rs777982827 CA7521284 |
203 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756467118 CA7521283 |
203 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1426148880 CA392101033 |
206 | T>A | No |
ClinGen gnomAD |
|
|
CA7521282 rs752934332 |
207 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1037190407 CA269976092 |
208 | P>R | No |
ClinGen Ensembl |
|
|
CA269976103 rs916973387 |
208 | P>S | No |
ClinGen TOPMed |
|
|
CA269976109 rs916973387 |
208 | P>T | No |
ClinGen TOPMed |
|
|
rs768039393 CA7521281 |
209 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs768039393 CA392100959 |
209 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 211 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA269976074 rs1036011588 |
212 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs939667921 CA269976072 |
212 | C>Y | No |
ClinGen gnomAD |
|
|
CA392100810 rs1157986082 |
213 | A>V | No |
ClinGen gnomAD |
|
|
CA7521279 rs751828649 |
214 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392100771 rs769072992 |
215 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7521276 rs772776670 |
215 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs772776670 CA7521277 |
215 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769072992 COSM961914 CA7521278 |
215 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7521274 rs761504172 |
216 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA7521275 rs769263497 |
216 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7521273 rs776290043 CA392100700 |
217 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs761113230 CA7521272 |
218 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7521270 rs775094098 |
219 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778035074 CA7521267 |
221 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs745793185 CA7521268 |
221 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA392100568 rs1323791294 |
222 | S>R | No |
ClinGen gnomAD |
|
|
CA392100532 rs1206607569 |
224 | V>L | No |
ClinGen TOPMed |
|
|
rs1297306145 CA392100490 |
225 | V>A | No |
ClinGen gnomAD |
|
|
rs1297306145 CA392100487 |
225 | V>G | No |
ClinGen gnomAD |
|
|
CA392100506 rs1485257222 |
225 | V>M | No |
ClinGen TOPMed |
|
|
CA7521263 rs781595457 |
228 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs748187739 CA7521264 |
228 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs767145906 CA7521232 |
231 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs767145906 CA392100061 |
231 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA392100031 rs1230665081 |
232 | N>S | No |
ClinGen TOPMed |
|
|
CA7521231 rs759433715 |
234 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA392099912 rs1480054811 |
235 | N>S | No |
ClinGen TOPMed |
|
|
CA269975459 rs144638889 |
236 | G>A | No |
ClinGen ESP gnomAD |
|
|
rs760537130 CA7521230 |
237 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA392099859 rs1596448081 |
237 | V>G | No |
ClinGen Ensembl |
|
|
rs774221177 CA7521228 |
238 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs140779290 CA7521227 |
239 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1177396133 CA392099827 |
239 | N>Y | No |
ClinGen TOPMed |
|
|
CA269975418 rs912048748 |
241 | N>Y | No |
ClinGen Ensembl |
|
|
CA7521225 rs776837156 |
243 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7521224 rs149600834 |
244 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392099629 rs1189097978 CA392099632 |
245 | N>K | No |
ClinGen gnomAD |
|
|
rs1456061286 CA392099615 |
246 | Y>C | No |
ClinGen gnomAD |
|
|
rs563681422 CA269975399 |
249 | G>R | No |
ClinGen TOPMed |
|
|
CA392099555 rs563681422 |
249 | G>S | No |
ClinGen TOPMed |
|
|
CA269975389 rs113766373 |
250 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7521222 rs113766373 |
250 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA392099498 rs1596448035 |
251 | N>T | No |
ClinGen Ensembl |
|
|
CA7521219 rs772217763 |
252 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs74487005 COSM188108 CA7521218 |
253 | A>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs74487005 CA7521217 |
253 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA269975339 rs764681522 |
254 | E>K | No |
ClinGen gnomAD |
|
|
rs755598857 CA7521214 |
255 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA7521213 rs752209786 |
256 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA392099371 rs150774377 |
256 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM961912 CA7521212 rs150774377 |
256 | T>M | liver endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA269975292 rs1015529937 |
259 | V>A | No |
ClinGen gnomAD |
|
|
rs201451548 CA7521209 |
259 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763033923 CA7521208 |
260 | A>D | No |
ClinGen ExAC |
|
|
rs1204637269 CA392099268 |
261 | I>V | No |
ClinGen TOPMed |
|
|
rs1004414598 CA269975290 |
264 | Q>K | No |
ClinGen gnomAD |
|
|
CA7521207 rs560597490 |
264 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA269975286 rs1027861893 |
265 | W>* | No |
ClinGen TOPMed |
|
|
COSM1372987 rs761166440 CA7521205 |
267 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA392099130 rs1220646905 |
268 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1220646905 CA392099128 |
268 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA392099119 rs1455462493 |
269 | G>D | No |
ClinGen TOPMed |
|
|
rs775584581 CA7521204 |
269 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1440429440 CA392099041 |
273 | V>A | No |
ClinGen TOPMed |
|
|
CA7521200 rs141299025 |
273 | V>L | No |
ClinGen ESP TOPMed |
|
|
CA7521199 rs141299025 |
273 | V>M | No |
ClinGen ESP TOPMed |
|
|
rs775889084 COSM258177 CA7521198 |
274 | R>C | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7521196 rs116616135 |
274 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392099007 rs1291986957 |
276 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA269975213 rs1045182796 |
277 | Q>* | No |
ClinGen TOPMed |
|
|
CA392098934 rs1380322333 |
279 | W>C | No |
ClinGen gnomAD |
|
|
CA7521192 rs752160249 |
279 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA392098858 rs1422696682 |
284 | V>A | No |
ClinGen gnomAD |
|
|
COSM1493439 rs762688161 CA7521187 |
285 | M>I | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs766081368 CA7521188 |
285 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA392098850 rs1478126947 |
285 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA392098799 rs1241392126 |
288 | V>M | No |
ClinGen TOPMed |
|
|
rs769220080 CA7521154 |
289 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA269967559 rs534510192 |
289 | M>T | No |
ClinGen Ensembl |
|
|
CA7521153 rs746532341 |
290 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA7521152 rs779700115 |
291 | C>Y | No |
ClinGen ExAC |
|
|
rs1422037303 CA392095276 |
293 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1422037303 CA392095274 |
293 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1461818467 CA392095224 |
296 | T>I | No |
ClinGen gnomAD |
|
|
CA7521151 rs758057050 |
297 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 297 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7521150 rs745506537 |
297 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392095200 rs1317466257 |
298 | V>A | No |
ClinGen gnomAD |
|
|
CA269967540 rs758405420 |
298 | V>M | No |
ClinGen Ensembl |
|
|
CA392095171 rs1252303266 |
300 | T>N | No |
ClinGen gnomAD |
|
|
rs1320510518 CA392095155 |
301 | N>S | No |
ClinGen gnomAD |
|
|
rs369401093 CA7521149 |
303 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA392095105 rs1384368683 |
304 | S>P | No |
ClinGen gnomAD |
|
|
rs1328641533 CA392095099 |
304 | S>Y | No |
ClinGen gnomAD |
|
|
RCV000413722 rs373144727 CA7521148 |
307 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7521146 rs751023981 |
308 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7521147 rs751023981 |
308 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331313655 CA392095012 |
309 | D>G | No |
ClinGen gnomAD |
|
|
rs1456199022 CA392095015 |
309 | D>H | No |
ClinGen gnomAD |
|
|
CA7521145 rs532247438 |
310 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446302478 CA392094953 |
313 | I>F | No |
ClinGen gnomAD |
|
|
rs766474226 CA7521143 COSM3736130 |
314 | I>T | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7521144 rs369809044 |
314 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs137896238 CA7521142 RCV000522622 |
316 | E>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7521140 rs765336664 COSM3420312 |
317 | Y>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs1566830160 CA617642828 |
318 | Y>* | No |
ClinGen Ensembl |
|
|
CA392094839 rs1566830155 |
318 | Y>F | No |
ClinGen Ensembl |
|
|
CA7521137 rs769342742 |
322 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265157532 CA392094694 |
325 | L>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs762308696 CA269967490 |
326 | G>E | No |
ClinGen Ensembl |
|
|
CA7521134 rs775176556 |
328 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs771585083 CA7521133 |
329 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA269967473 rs904106829 |
333 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA269966997 TCGA novel COSM1664549 rs878979944 |
334 | W>* | kidney Variant assessed as Somatic; 0.0 impact. Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7521130 rs778663652 |
334 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA269966993 rs934549646 |
337 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs773680472 CA7521112 |
339 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA7521111 rs554627092 |
340 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs748936981 CA7521110 |
341 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 344 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392093670 rs1178473361 |
345 | A>V | No |
ClinGen TOPMed |
|
|
rs769556674 CA7521108 |
346 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000493623 rs777586604 CA7521109 |
346 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs781194265 CA7521106 |
348 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA392093645 rs200787692 |
348 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200787692 CA7521107 |
348 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392093619 rs1448044415 |
350 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1448044415 CA392093616 |
350 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7521103 rs778853292 |
351 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs764358619 CA7521101 |
355 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1405082462 CA392093554 |
355 | G>D | No |
ClinGen TOPMed |
|
|
CA7521100 rs764358619 |
355 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756387956 CA269966939 |
356 | W>* | No |
ClinGen Ensembl |
|
|
CA7521097 rs372095895 |
356 | W>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752941309 CA7521098 COSM330962 |
356 | W>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7521096 rs559538418 |
357 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7521095 rs773979804 |
358 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1345327631 CA392093488 |
360 | D>V | No |
ClinGen gnomAD |
|
|
rs772874758 CA7521092 |
361 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392093449 rs1471042829 |
363 | P>L | No |
ClinGen gnomAD |
|
|
rs747988221 CA7521090 |
366 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596442140 CA392093407 |
366 | M>T | No |
ClinGen Ensembl |
|
|
rs1170356220 CA392093393 |
367 | S>N | No |
ClinGen gnomAD |
|
| rs763759928 | 369 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368075847 CA7521088 |
369 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368075847 CA269966913 |
369 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7521053 COSM961910 rs200175407 |
370 | V>I | endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA392093285 rs1566829269 |
371 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 372 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392093252 rs1566829262 |
373 | C>Y | No |
ClinGen Ensembl |
|
|
CA269966843 rs952096982 |
374 | G>D | No |
ClinGen TOPMed |
|
|
rs1452504233 CA392093198 |
375 | P>R | No |
ClinGen TOPMed |
|
|
CA392093191 rs1596441903 |
376 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 377 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 377 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772196871 CA7521051 |
377 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1293834458 CA392093104 |
380 | A>D | No |
ClinGen gnomAD |
|
|
rs1293834458 CA392093100 |
380 | A>V | No |
ClinGen gnomAD |
|
|
CA269966839 rs1027762979 |
381 | I>L | No |
ClinGen TOPMed |
|
|
rs759544430 CA7521050 |
381 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7521049 rs773467707 |
382 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1056981661 CA269966833 |
383 | E>A | No |
ClinGen TOPMed |
|
|
rs1283598715 CA392093048 |
383 | E>K | No |
ClinGen gnomAD |
|
|
CA392092887 rs1404717350 |
391 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7521046 rs141830093 |
392 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392092848 rs768857323 |
393 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7521044 rs768857323 |
393 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392092822 rs1344126223 |
394 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764448893 CA392092765 |
397 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764448893 COSM1678400 CA7521043 |
397 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7521042 rs764448893 |
397 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779424185 CA7521039 CA392092742 |
398 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs750906740 CA7521040 |
398 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA269966817 rs931018530 |
398 | M>V | No |
ClinGen Ensembl |
|
|
rs756747441 CA7521038 |
399 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756747441 CA269966811 |
399 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763663599 CA7521036 |
402 | D>E | No |
ClinGen ExAC |
|
|
CA269966807 rs973654082 |
402 | D>N | No |
ClinGen Ensembl |
|
|
CA269966802 rs760940533 |
403 | C>R | No |
ClinGen Ensembl |
|
|
CA392092608 rs1159301490 |
404 | M>I | No |
ClinGen TOPMed |
|
|
rs1241644237 CA392092620 |
404 | M>T | No |
ClinGen gnomAD |
|
|
CA7521034 rs752609754 |
406 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA7521032 rs759599342 |
408 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7521031 rs774454541 |
409 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1324725373 CA392092502 |
410 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 410 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392092498 rs1324725373 |
410 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA392092461 rs1285541168 |
412 | K>T | No |
ClinGen gnomAD |
|
|
rs1450025032 CA392092423 |
414 | Q>K | No |
ClinGen TOPMed |
|
|
rs1566829086 CA392092324 |
419 | D>H | No |
ClinGen Ensembl |
|
|
rs140691294 CA7521027 |
420 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377676765 CA269966775 |
423 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA392092178 rs1431188292 |
426 | F>L | No |
ClinGen gnomAD |
|
|
rs747200999 CA7521025 |
427 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7521024 rs775880312 |
429 | T>A | No |
ClinGen ExAC |
|
|
rs375714653 CA7521023 |
429 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392092086 rs1596441643 |
431 | S>I | No |
ClinGen Ensembl |
|
|
rs1566829012 CA392092049 |
432 | I>M | No |
ClinGen Ensembl |
|
|
RCV000521499 rs758505358 |
435 | D>missing | No |
ClinVar dbSNP |
|
|
rs779289521 CA7521018 |
436 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7521015 rs777337249 |
437 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392091924 rs767231325 |
438 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752378622 CA7521013 |
438 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM188104 rs754853779 CA7521011 |
439 | D>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1296932075 CA392091921 |
439 | D>N | No |
ClinGen gnomAD |
|
|
rs766241603 CA7521009 |
440 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452976585 CA392091849 |
441 | T>K | No |
ClinGen gnomAD |
|
| TCGA novel | 442 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7521008 rs762943284 |
442 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7521007 rs142849623 |
443 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764209843 CA7521006 |
444 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7521004 rs775718761 |
445 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA269965767 rs964545806 |
449 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA392090365 rs964545806 |
449 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs774622061 CA7520982 |
450 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs771307043 CA392090323 |
452 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866650731 CA392090312 |
453 | E>G | No |
ClinGen gnomAD |
|
|
CA269965759 rs866650731 |
453 | E>V | No |
ClinGen gnomAD |
|
|
CA392090302 rs1426424724 |
454 | R>K | No |
ClinGen gnomAD |
|
|
rs763181583 CA7520980 |
455 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs763181583 CA392090290 |
455 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA7520979 rs565999024 |
456 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA392090276 rs1292653258 |
456 | V>M | No |
ClinGen gnomAD |
|
|
rs770360924 CA7520978 |
457 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA392090246 rs1272932504 |
458 | L>P | No |
ClinGen TOPMed |
|
|
CA392090220 rs1469202330 |
462 | Q>* | No |
ClinGen TOPMed |
|
|
CA392090222 rs1469202330 |
462 | Q>K | No |
ClinGen TOPMed |
|
|
rs1364593810 CA392090219 |
462 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1229335997 CA392090209 |
463 | K>M | No |
ClinGen gnomAD |
|
|
CA7520977 rs200699074 |
463 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1246761202 CA392090195 |
465 | K>N | No |
ClinGen TOPMed |
|
|
CA7520975 rs768462384 |
466 | A>G | No |
ClinGen ExAC |
|
|
rs780837099 CA7520976 |
466 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA392090190 rs1426173854 |
467 | R>G | No |
ClinGen TOPMed |
|
|
rs1268544004 CA392090178 |
468 | S>N | No |
ClinGen gnomAD |
|
|
rs1016515625 CA269965741 |
469 | F>L | No |
ClinGen TOPMed |
|
|
CA392090163 rs1200821356 |
470 | H>P | No |
ClinGen gnomAD |
|
|
rs1490970396 CA392090151 |
472 | S>F | No |
ClinGen gnomAD |
|
|
CA7520974 rs746651258 |
473 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs779521076 CA7520973 |
474 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA392090139 rs1476189127 |
474 | R>K | No |
ClinGen TOPMed |
|
|
rs1351035547 CA392090135 |
475 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7520970 rs778832614 |
479 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs757169183 CA7520969 |
480 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA7520968 rs752837830 |
481 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA392090090 rs1316395465 |
482 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA269965711 rs1006115094 |
484 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1385685805 CA392090057 |
486 | L>V | No |
ClinGen gnomAD |
|
|
rs1296347661 CA392090037 |
487 | S>N | No |
ClinGen TOPMed |
|
|
CA392090029 rs759730629 |
487 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs751832294 CA7520965 |
488 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA269965694 rs951456679 |
491 | P>H | No |
ClinGen Ensembl |
|
|
rs148534721 CA7520962 |
492 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7520963 rs763381962 COSM3420311 |
492 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA269965680 rs552167011 |
495 | H>Q | No |
ClinGen Ensembl |
|
|
rs770481769 CA7520961 |
495 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs762406797 CA7520960 |
497 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 498 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765242740 CA269965675 |
498 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 500 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768303078 CA7520958 |
500 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046471651 CA269965666 |
501 | P>R | No |
ClinGen Ensembl |
|
|
CA392089946 rs1263570352 |
501 | P>T | No |
ClinGen gnomAD |
|
|
rs746460727 CA7520957 |
502 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA392089936 rs1337432890 |
502 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs149301291 CA7520956 |
503 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs192677448 CA7520953 |
505 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392089915 rs1166797576 |
506 | Q>* | No |
ClinGen TOPMed |
|
|
rs961610741 CA269965650 |
506 | Q>H | No |
ClinGen Ensembl |
|
|
CA7520952 rs757222459 |
507 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs753757662 CA7520951 |
514 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392089860 rs201416948 |
515 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201416948 CA7520949 |
515 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766638818 CA7520947 |
516 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751527909 CA7520948 |
516 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312451423 CA392089839 |
518 | N>S | No |
ClinGen TOPMed |
|
|
rs762218716 CA7520943 |
524 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 526 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7520941 rs777308377 |
526 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1435870964 CA392089742 |
532 | M>I | No |
ClinGen gnomAD |
|
|
rs150300231 CA7520940 |
533 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7520939 rs141180020 |
535 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392089714 rs1240313537 |
536 | F>L | No |
ClinGen TOPMed |
|
|
rs1299968318 CA392089710 |
537 | K>R | No |
ClinGen gnomAD |
|
|
CA269965603 rs998591032 |
538 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 539 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7520938 CA269965597 rs377644850 |
542 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000969657 rs148226418 CA7520937 |
544 | S>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA392089667 rs1450390581 |
544 | S>R | No |
ClinGen gnomAD |
|
|
rs1596439000 CA392089655 |
545 | A>V | No |
ClinGen Ensembl |
|
|
rs745476392 CA7520936 |
546 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7520931 rs267604214 |
551 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267604214 CA7520932 |
551 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1468248225 CA392089608 |
553 | S>G | No |
ClinGen gnomAD |
|
|
rs779995506 CA7520929 |
554 | P>L | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 554 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392089594 rs1232129373 |
554 | P>T | No |
ClinGen gnomAD |
|
|
CA7520928 rs374155776 |
555 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750695683 CA7520926 |
556 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA392089505 rs1221564128 |
561 | D>N | No |
ClinGen gnomAD |
|
|
CA392089491 rs1292524427 |
562 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA392089474 rs1371430920 |
563 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs757700962 CA7520924 |
563 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA392089470 rs1371430920 |
563 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7520922 rs764715795 |
564 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392089441 COSM459034 rs1352645143 |
565 | I>M | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA392089409 rs1166250906 |
568 | S>F | No |
ClinGen gnomAD |
|
|
CA7520919 rs775103678 COSM223756 |
569 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA392089257 rs1209631073 |
574 | T>I | No |
ClinGen gnomAD |
|
|
CA392089260 rs1209631073 |
574 | T>N | No |
ClinGen gnomAD |
|
|
rs1596438308 CA392089268 |
574 | T>P | No |
ClinGen Ensembl |
|
|
rs766079068 CA7520897 |
575 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA392089228 rs1324968407 |
576 | P>R | No |
ClinGen gnomAD |
|
|
rs762590717 CA7520895 |
577 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213262932 CA392089207 |
578 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 578 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7520894 rs530680672 |
580 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769454873 CA7520893 |
581 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1596438243 CA392089169 |
582 | S>P | No |
ClinGen Ensembl |
|
|
CA269965272 rs897562406 |
583 | Q>L | No |
ClinGen Ensembl |
|
|
rs1596438214 CA392089155 |
584 | Y>S | No |
ClinGen Ensembl |
|
|
rs746001873 CA7520889 |
586 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1427809715 CA392089119 |
589 | S>L | No |
ClinGen gnomAD |
|
|
COSM1323197 rs771315481 CA7520886 |
591 | D>H | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1451626168 CA392089099 |
592 | K>R | No |
ClinGen gnomAD |
|
|
CA392089094 rs1301175846 |
593 | L>V | No |
ClinGen gnomAD |
|
|
COSM700529 CA7520884 rs777999621 |
595 | R>C | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3386877 CA7520883 rs145147059 |
595 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA392089074 rs1370291138 |
596 | I>T | No |
ClinGen TOPMed |
|
|
CA392089059 rs1483789860 |
598 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA392089056 rs1258081365 |
599 | L>P | No |
ClinGen gnomAD |
|
|
CA392089047 rs1203068214 |
601 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 602 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138702942 CA269965243 |
602 | E>K | No |
ClinGen 1000Genomes gnomAD |
|
|
rs138702942 CA392089039 |
602 | E>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1276732858 CA392089019 |
604 | S>I | No |
ClinGen TOPMed |
|
|
rs1195509442 CA392089013 |
605 | S>I | No |
ClinGen TOPMed |
|
|
CA392089016 rs1337656003 |
605 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 606 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392089008 rs1158087723 |
606 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1307391240 CA392089002 |
607 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 610 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 611 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7520876 rs765845620 |
612 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs944208064 CA269965219 |
615 | I>T | No |
ClinGen Ensembl |
|
|
CA392088938 rs1596438033 |
616 | T>I | No |
ClinGen Ensembl |
|
|
CA7520874 rs750073312 |
616 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA392088936 rs1267417116 |
617 | L>V | No |
ClinGen gnomAD |
|
|
rs764874796 CA7520872 |
620 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761527288 CA7520871 |
622 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA7520870 rs143722994 |
623 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392088510 rs1489296011 |
626 | V>I | No |
ClinGen gnomAD |
|
|
CA392088495 rs1258588011 |
627 | L>P | No |
ClinGen gnomAD |
|
|
rs1329630108 CA392088462 |
630 | A>V | No |
ClinGen gnomAD |
|
|
CA7520845 rs773549912 |
631 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777031223 CA7520843 |
633 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA7520842 rs769032755 |
634 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747305439 CA7520841 |
637 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1392903556 CA392088397 |
639 | Q>E | No |
ClinGen gnomAD |
|
|
rs200229745 CA7520840 |
641 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs972936522 CA269964634 |
643 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA392088363 rs1413213595 |
644 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA392088355 rs1161800361 |
645 | P>S | No |
ClinGen gnomAD |
|
|
rs758924191 CA7520839 |
646 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs758924191 CA392088350 |
646 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs745436900 CA7520838 |
647 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392088338 rs866420394 |
648 | E>A | No |
ClinGen TOPMed |
|
|
rs866420394 CA269964600 |
648 | E>G | No |
ClinGen TOPMed |
|
|
CA392088332 rs1448991268 |
649 | Q>* | No |
ClinGen TOPMed |
|
|
rs1323954467 CA392088329 |
649 | Q>P | No |
ClinGen TOPMed |
|
|
rs376394414 CA392088323 |
650 | V>A | No |
ClinGen TOPMed |
|
|
CA269964597 rs376394414 |
650 | V>D | No |
ClinGen TOPMed |
|
|
rs1330609829 CA392088326 |
650 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 651 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7520837 rs778451314 |
651 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA7520836 rs756905117 |
652 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA392088307 rs1204214870 |
653 | C>S | No |
ClinGen gnomAD |
|
|
rs753563728 CA7520835 |
653 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269834909 CA392088300 |
654 | V>M | No |
ClinGen gnomAD |
|
|
CA7520834 rs763797735 |
656 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7520832 rs752485097 |
659 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1235265199 CA392088271 |
659 | G>R | No |
ClinGen gnomAD |
|
|
CA269964571 rs944442607 |
660 | S>G | No |
ClinGen TOPMed |
|
|
CA392088264 rs1212433059 |
660 | S>N | No |
ClinGen TOPMed |
|
|
CA269964565 rs911670379 |
661 | G>D | No |
ClinGen Ensembl |
|
|
CA7520829 rs759518133 |
664 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs773205790 CA7520828 |
665 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392088228 rs955725826 CA269964556 |
665 | K>N | No |
ClinGen gnomAD |
|
|
CA392088223 rs1401870257 |
666 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 668 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765338938 CA7520827 |
669 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7520825 rs776871744 |
670 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs372896864 CA392088186 CA7520798 |
670 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776871744 CA392088198 |
670 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA392088183 rs1205711460 |
671 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 674 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs549037229 CA269964378 |
676 | P>T | No |
ClinGen 1000Genomes |
|
|
CA269964377 rs886406235 |
677 | Q>* | No |
ClinGen Ensembl |
|
|
rs1189553032 CA392088114 |
679 | Q>P | No |
ClinGen TOPMed |
|
|
rs748868470 CA7520797 |
680 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 681 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566826410 CA392088072 |
682 | I>N | No |
ClinGen Ensembl |
|
|
CA7520794 rs375024044 |
687 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7520795 rs375024044 |
687 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA392088009 rs1355877413 |
688 | P>R | No |
ClinGen gnomAD |
|
|
rs780659986 CA7520793 |
689 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 692 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780096078 CA7520790 |
693 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 699 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7520789 rs758326144 |
700 | M>I | No |
ClinGen ExAC TOPMed |
|
|
rs753958560 CA7520788 |
702 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1404459108 CA392087750 |
707 | D>N | No |
ClinGen gnomAD |
|
|
CA392087752 rs1404459108 |
707 | D>Y | No |
ClinGen gnomAD |
|
|
CA392087743 rs1414063353 |
708 | I>V | No |
ClinGen gnomAD |
|
|
rs900447315 CA269964289 |
709 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 709 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 711 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392087714 rs1468422623 |
712 | R>K | No |
ClinGen gnomAD |
|
|
rs760693179 CA7520786 |
712 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1182849696 CA392087702 |
714 | V>I | No |
ClinGen gnomAD |
|
|
rs1462028200 CA392087692 |
715 | Y>C | No |
ClinGen gnomAD |
|
|
CA269964261 rs1039263435 |
717 | D>E | No |
ClinGen Ensembl |
|
|
CA392087682 rs767565622 |
717 | D>H | No |
ClinGen ExAC |
|
|
CA7520783 rs767565622 |
717 | D>N | No |
ClinGen ExAC |
|
|
CA269964244 rs777878329 |
718 | F>L | No |
ClinGen Ensembl |
|
|
rs1254130043 CA392087669 |
719 | A>T | No |
ClinGen gnomAD |
|
|
rs1451315165 CA392087655 |
721 | L>Q | No |
ClinGen TOPMed gnomAD |
1 associated diseases with O43548
[MIM: 609796]: Peeling skin syndrome 2 (PSS2)
A non-inflammatory and localized form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In PSS2 patients, skin peeling is painless and strictly limited to the dorsa of the hands and feet. It is accompanied by painless erythema and spontaneous non-scarring healing. Ultrastructural and histological analysis shows a level of blistering high in the epidermis at the stratum granulosum-stratum corneum junction. {ECO:0000269|PubMed:16380904}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A non-inflammatory and localized form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In PSS2 patients, skin peeling is painless and strictly limited to the dorsa of the hands and feet. It is accompanied by painless erythema and spontaneous non-scarring healing. Ultrastructural and histological analysis shows a level of blistering high in the epidermis at the stratum granulosum-stratum corneum junction. {ECO:0000269|PubMed:16380904}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for O43548
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Transglutaminase, N-terminal | 10 - 121 | IPR001102 |
| domain | Transglutaminase-like | 270 - 363 | IPR002931 |
| domain | Transglutaminase, C-terminal | 507 - 603 | IPR008958-1 |
| domain | Transglutaminase, C-terminal | 620 - 717 | IPR008958-2 |
| active_site | Transglutaminase, active site | 276 - 293 | IPR013808 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| protein-glutamine gamma-glutamyltransferase activity | Catalysis of the reaction: protein glutamine + alkylamine = protein N5-alkylglutamine + NH3. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| epidermis development | The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species. |
| peptide cross-linking | The formation of a covalent cross-link between or within protein chains. |
| protein modification process | The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQGLEVALT | DLQSSRNNVR | HHTEEITVDH | LLVRRGQAFN | LTLYFRNRSF | QPGLDNIIFV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VETGPLPDLA | LGTRAVFSLA | RHHSPSPWIA | WLETNGATST | EVSLCAPPTA | AVGRYLLKIH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IDSFQGSVTA | YQLGEFILLF | NPWCPEDAVY | LDSEPQRQEY | VMNDYGFIYQ | GSKNWIRPCP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| WNYGQFEDKI | IDICLKLLDK | SLHFQTDPAT | DCALRGSPVY | VSRVVCAMIN | SNDDNGVLNG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NWSENYTDGA | NPAEWTGSVA | ILKQWNATGC | QPVRYGQCWV | FAAVMCTVMR | CLGIPTRVIT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NFDSGHDTDG | NLIIDEYYDN | TGRILGNKKK | DTIWNFHVWN | ECWMARKDLP | PAYGGWQVLD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ATPQEMSNGV | YCCGPASVRA | IKEGEVDLNY | DTPFVFSMVN | ADCMSWLVQG | GKEQKLHQDT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SSVGNFISTK | SIQSDERDDI | TENYKYEEGS | LQERQVFLKA | LQKLKARSFH | GSQRGAELQP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SRPTSLSQDS | PRSLHTPSLR | PSDVVQVSLK | FKLLDPPNMG | QDICFVLLAL | NMSSQFKDLK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VNLSAQSLLH | DGSPLSPFWQ | DTAFITLSPK | EAKTYPCKIS | YSQYSQYLST | DKLIRISALG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EEKSSPEKIL | VNKIITLSYP | SITINVLGAA | VVNQPLSIQV | IFSNPLSEQV | EDCVLTVEGS |
| 670 | 680 | 690 | 700 | 710 | |
| GLFKKQQKVF | LGVLKPQHQA | SIILETVPFK | SGQRQIQANM | RSNKFKDIKG | YRNVYVDFAL |