Q9UH99
SS
Gene name |
SUN2 (FRIGG, KIAA0668, RAB5IP, UNC84B) |
Protein name |
SUN domain-containing protein 2 |
Names |
Protein unc-84 homolog B , Rab5-interacting protein , Rab5IP , Sad1/unc-84 protein-like 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:25777 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
510-685 (SUN domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
10 structures for Q9UH99
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3UNP | X-ray | 239 A | A | 520-717 | PDB |
| 4DXR | X-ray | 232 A | A | 522-717 | PDB |
| 4DXS | X-ray | 271 A | A | 522-717 | PDB |
| 4DXT | X-ray | 222 A | A | 522-717 | PDB |
| 4FI9 | X-ray | 305 A | A | 523-717 | PDB |
| 6WMD | X-ray | 150 A | A | 522-717 | PDB |
| 6WME | X-ray | 153 A | A | 522-717 | PDB |
| 6WMF | X-ray | 260 A | A | 522-717 | PDB |
| 6WMG | X-ray | 190 A | A | 500-717 | PDB |
| AF-Q9UH99-F1 | Predicted | AlphaFoldDB |
618 variants for Q9UH99
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs764750687 CA10236137 RCV001043086 |
3 | R>Q | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs149995796 RCV001346830 CA10236132 |
9 | T>M | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs139611023 RCV000555110 CA10236129 |
10 | R>C | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001338534 rs771840984 CA10236127 RCV002546845 |
11 | Y>H | Emery-Dreifuss muscular dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1461986386 RCV000636867 CA411587628 |
14 | G>V | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10236108 RCV001692170 rs2072799 VAR_052282 RCV000549990 |
33 | T>A | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10236078 rs4510314 RCV000542364 |
52 | R>H | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10236075 RCV000636861 rs137966643 |
56 | A>P | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000530224 rs760297349 CA411587219 |
77 | E>D | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001248087 rs2092943711 |
82 | P>H | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2092943342 RCV001042453 |
90 | H>R | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001342435 RCV003169637 CA10235989 rs146324000 |
102 | R>W | Emery-Dreifuss muscular dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs774003824 RCV001056205 |
105 | R>missing | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001056003 CA411586784 rs746753110 |
122 | K>E | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002534682 CA10235936 RCV000801709 rs143710758 |
144 | S>L | Emery-Dreifuss muscular dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001243747 CA10235931 rs777319339 |
146 | V>G | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10235921 RCV000636890 rs143392390 |
154 | R>Q | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs150906372 RCV001036291 CA10235922 |
154 | R>W | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10235919 rs137925849 RCV000636887 |
156 | R>Q | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA411586409 RCV000543599 rs1556013290 |
157 | S>N | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000821810 CA10235917 rs199600089 |
158 | A>T | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10235914 rs201453554 RCV001317985 |
159 | V>I | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000558288 CA10235911 rs62639696 |
162 | A>V | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10235908 RCV001213001 rs779478954 |
168 | M>I | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10235906 rs760739182 COSM1416286 RCV001315550 |
172 | S>L | Variant assessed as Somatic; 0.0 impact. Emery-Dreifuss muscular dystrophy large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA411586313 RCV000816261 rs1390604251 |
174 | G>R | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10235882 rs148232799 RCV001054135 |
174 | G>V | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001056594 rs2092930754 |
180 | L>P | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776343176 RCV001228406 CA10235877 |
181 | Y>C | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10235875 RCV001047633 rs746473215 |
183 | W>* | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2092930608 RCV001337393 |
184 | A>S | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001308730 rs778335481 CA10235870 |
195 | A>P | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000699775 CA10235835 rs150381950 |
206 | R>S | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs142155226 CA10235830 RCV000873734 |
212 | T>M | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1883206 RCV000556934 CA10235827 |
219 | P>L | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001231056 rs2092899305 |
243 | P>L | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs375173070 CA10235785 RCV001230212 |
253 | D>E | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10235737 RCV001066202 rs780349096 |
275 | R>H | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001061612 rs1187777425 CA411585609 |
279 | R>W | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000791994 CA10235730 rs760591672 |
285 | R>Q | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000535236 CA10235722 rs199636823 |
304 | R>W | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs564884199 RCV000560131 CA10235700 |
330 | A>V | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_052284 CA10235688 rs138708 RCV000546363 RCV001618725 |
348 | R>C | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs142901119 RCV000878264 CA10235687 |
348 | R>H | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2092858095 RCV001243801 |
361 | A>S | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139004902 RCV000558900 CA10235664 |
378 | V>I | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002563841 rs763323157 CA10235662 RCV001235923 |
379 | R>Q | Emery-Dreifuss muscular dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs143302352 RCV000803404 CA10235661 RCV002534744 |
380 | A>D | Emery-Dreifuss muscular dystrophy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10235614 RCV001396211 rs552540669 |
411 | L>V | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA324300409 RCV000823532 rs748611243 COSM3379403 |
413 | R>Q | pancreas Emery-Dreifuss muscular dystrophy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000823289 rs534367476 CA10235612 |
413 | R>W | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10235610 rs376340507 RCV000636866 |
420 | G>S | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs370825322 RCV001227432 CA10235608 |
424 | E>K | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001309726 CA324300299 rs990153882 COSM1228010 |
434 | S>L | Variant assessed as Somatic; 0.0 impact. Emery-Dreifuss muscular dystrophy large_intestine [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10235600 rs200311518 RCV001339717 |
438 | E>D | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs117350165 RCV001068952 CA10235595 |
449 | V>L | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs117350165 RCV000636889 CA10235594 |
449 | V>M | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000815395 CA411584504 rs1371797768 |
450 | R>Q | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2092844667 RCV001317391 |
451 | D>G | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000560277 rs147351772 CA10235591 COSM1034186 |
452 | D>N | Emery-Dreifuss muscular dystrophy endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10235563 rs781480505 RCV001298617 |
458 | P>L | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000874225 CA10235564 rs76681049 |
458 | P>S | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001037549 rs751880061 CA10235561 |
465 | L>H | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs148038201 CA10235544 RCV001320953 |
489 | E>D | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10235525 rs567532014 RCV000525219 |
514 | T>M | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA411584066 rs1417867039 RCV001221340 |
518 | E>G | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM1720597 rs758076166 RCV000701926 CA10235491 |
545 | G>R | NS Emery-Dreifuss muscular dystrophy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1284194276 RCV000794628 |
550 | A>missing | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411583764 rs1370359939 RCV000797865 |
562 | R>* | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1352285124 RCV001247017 |
564 | S>C | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10235449 RCV000686432 rs752150588 |
571 | T>M | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000810210 CA411583587 rs1446967356 |
589 | R>Q | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10235403 RCV000554199 rs141013997 |
620 | R>C | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001342571 CA10235397 rs769627673 |
627 | E>Q | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001229190 rs2092828049 |
629 | V>A | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411583310 rs1021027363 RCV001038459 |
632 | A>T | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10235366 rs755259603 RCV000805077 |
666 | T>I | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1486287848 CA411582971 RCV001049386 |
680 | Q>R | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10235317 RCV001040283 rs559096453 |
681 | A>T | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1264903354 RCV000686292 |
685 | A>missing | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150292176 CA10235313 RCV000636871 |
686 | T>M | Emery-Dreifuss muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| TCGA novel | 2 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10236138 rs148700122 COSM1034196 |
3 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed |
|
CA411587682 rs1211569464 |
5 | S>G | No |
ClinGen TOPMed |
|
|
CA411587677 rs1256540601 |
5 | S>R | No |
ClinGen TOPMed |
|
|
rs144222408 CA10236136 |
7 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1034195 rs760233760 CA10236135 |
7 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs750875325 CA10236134 |
8 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs765695066 CA10236133 |
9 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA10236130 rs139611023 |
10 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775673499 CA10236128 |
10 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745874505 CA10236126 |
12 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745874505 CA411587641 |
12 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145577519 CA10236124 |
16 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs919289888 CA10236122 |
16 | D>V | No |
ClinGen Ensembl |
|
| TCGA novel | 16 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755720130 CA10236119 |
18 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411587602 rs1195787762 |
18 | G>D | No |
ClinGen gnomAD |
|
|
rs755720130 CA10236120 |
18 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747765292 CA10236118 |
19 | S>G | No |
ClinGen ExAC |
|
|
CA411587581 rs1204750119 |
21 | S>N | No |
ClinGen gnomAD |
|
|
CA411587566 rs1277872262 |
23 | G>E | No |
ClinGen gnomAD |
|
|
CA10236113 rs1196723769 |
23 | G>R | No |
ClinGen TOPMed |
|
|
CA10236112 rs754436357 |
24 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 24 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751009253 CA10236111 |
25 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150683665 CA10236110 |
26 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411587533 rs1193138179 |
29 | G>R | No |
ClinGen TOPMed |
|
|
rs906121163 CA324310754 |
30 | S>R | No |
ClinGen TOPMed |
|
|
rs1299995598 CA411587510 |
32 | S>N | No |
ClinGen gnomAD |
|
|
rs530473428 CA10236107 |
33 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10236104 rs767771048 |
37 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569556638 CA10236105 |
37 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759467498 CA10236103 |
40 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10236102 rs774354242 |
41 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs774354242 CA411587455 |
41 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA411587434 rs751552338 |
42 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751552338 CA10236085 |
42 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766449176 CA10236084 |
45 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA10236082 rs773122894 |
47 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs762924640 CA10236083 |
47 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs559334438 CA10236080 |
50 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10236079 rs148173955 |
52 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs746563502 CA10236077 |
53 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA411587356 rs1166511698 |
54 | S>F | No |
ClinGen gnomAD |
|
|
CA324309442 rs137966643 |
56 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373974626 CA10236074 |
56 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324309418 rs962711383 |
57 | P>R | No |
ClinGen TOPMed |
|
|
rs975353798 CA324309428 |
57 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs375796599 CA10236072 |
58 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10236071 rs757400948 |
59 | L>* | No |
ClinGen ExAC |
|
|
rs781507965 CA10236069 |
60 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA10236068 rs755193806 |
60 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA10236066 rs377339200 |
61 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371249205 CA324309349 |
62 | S>C | No |
ClinGen Ensembl |
|
|
CA10236064 rs1225601077 |
63 | S>P | No |
ClinGen gnomAD |
|
|
CA411587302 rs1431290021 |
65 | A>T | No |
ClinGen TOPMed |
|
|
rs1470137902 CA411587293 |
66 | H>P | No |
ClinGen TOPMed |
|
|
CA10236061 COSM1034194 rs766429474 |
66 | H>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA411587284 rs1298859549 |
67 | T>I | No |
ClinGen gnomAD |
|
|
rs1603230355 CA411587289 |
67 | T>P | No |
ClinGen Ensembl |
|
|
rs758469799 COSM4156266 COSM4156264 CA10236059 |
69 | Y>* | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs750366160 CA10236058 |
71 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA324309326 rs888976734 |
71 | S>R | No |
ClinGen gnomAD |
|
|
CA411587259 rs1330502605 |
71 | S>T | No |
ClinGen TOPMed |
|
|
CA10236057 rs765101142 |
73 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141299919 CA10236054 |
77 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748088497 CA10236052 |
78 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771484359 CA10236051 |
79 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA411587183 rs1474913633 |
83 | R>G | No |
ClinGen gnomAD |
|
|
rs147820532 CA10236048 |
83 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 84 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194247242 CA411587175 |
84 | S>N | No |
ClinGen gnomAD |
|
|
rs770383830 CA411587172 |
84 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324309276 rs780037165 |
85 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1316428173 CA411587159 |
87 | E>K | No |
ClinGen TOPMed |
|
|
CA324309274 rs907095688 |
88 | E>G | No |
ClinGen TOPMed |
|
|
rs35496634 CA10236041 |
89 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_052283 CA10236040 rs35496634 |
89 | L>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA324309267 rs149040605 COSM108208 |
92 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs142753729 CA10236036 |
93 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs750454076 CA10236035 |
94 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA411587112 rs1437861431 |
94 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756113748 CA10235994 |
96 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139520290 CA10236034 |
96 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411586945 rs1486844848 |
97 | E>K | No |
ClinGen TOPMed |
|
|
CA411586931 rs1465760344 |
98 | D>E | No |
ClinGen gnomAD |
|
|
CA10235993 rs752554886 |
98 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs752554886 CA324309048 |
98 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA411586920 rs1004788441 |
100 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 100 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10235992 rs781189308 |
100 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324309041 rs1004788441 |
100 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA10235991 rs754813165 |
101 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs146324000 CA324309014 |
102 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10235988 rs373600095 |
102 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10235986 rs764625298 |
103 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10235985 rs761298006 |
104 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA411586893 rs761298006 |
104 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1465038189 CA411586882 |
106 | G>S | No |
ClinGen gnomAD |
|
|
CA10235983 rs775966191 |
107 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324308957 rs1056111716 |
108 | G>D | No |
ClinGen Ensembl |
|
|
CA411586871 rs1409655055 |
108 | G>S | No |
ClinGen gnomAD |
|
|
CA411586864 rs1289928382 |
109 | G>C | No |
ClinGen TOPMed |
|
|
rs1603229909 CA411586852 |
111 | E>* | No |
ClinGen Ensembl |
|
|
rs1190942016 CA411586843 |
112 | S>N | No |
ClinGen gnomAD |
|
|
CA10235979 rs771139652 |
113 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA10235978 rs773389007 |
114 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA411586818 rs1489160021 |
116 | S>G | No |
ClinGen gnomAD |
|
|
rs769749782 CA10235976 |
117 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769749782 CA411586810 |
117 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10235975 rs748161325 |
118 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs201794535 CA10235974 COSM1034192 |
121 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10235973 rs200211836 |
121 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746753110 CA10235972 |
122 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294214922 CA411586757 |
126 | D>H | No |
ClinGen gnomAD |
|
|
rs201111988 CA10235970 |
128 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411586727 rs1352981591 |
130 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
COSM352106 rs1170808403 CA411586716 |
132 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA639396846 rs1569305098 |
134 | Y>* | No |
ClinGen Ensembl |
|
|
CA10235968 rs764864329 |
139 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10235967 rs201604103 |
140 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10235965 rs767960764 |
141 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1435451030 CA411586656 |
141 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA411586476 rs1247306068 |
145 | D>G | No |
ClinGen gnomAD |
|
|
CA10235934 rs778655754 |
145 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA10235932 rs777319339 |
146 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10235933 rs201937936 |
146 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1367977586 CA411586467 |
147 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10235930 rs755615804 |
148 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA10235929 rs144325401 |
150 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10235928 rs758814971 |
151 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs149626068 CA10235925 |
151 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149626068 CA10235926 |
151 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758814971 CA10235927 |
151 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs149626068 CA411586438 |
151 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374690791 CA324308333 |
153 | S>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10235920 rs775513310 |
155 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA10235916 rs770696638 |
158 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10235913 rs769304615 |
159 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs201453554 CA10235915 |
159 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1344825115 CA411586388 |
161 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1344825115 CA411586390 |
161 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10235912 rs200026739 |
161 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10235909 rs750919858 |
164 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs757695145 CA10235907 |
169 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1224444919 CA411586333 |
170 | A>V | No |
ClinGen TOPMed |
|
|
CA324308193 rs1034862342 |
171 | T>I | No |
ClinGen TOPMed |
|
|
CA10235883 rs148232799 |
174 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411586314 rs1390604251 |
174 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs901315537 CA324307856 |
175 | R>Q | No |
ClinGen gnomAD |
|
|
CA10235881 rs765926585 |
175 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324307852 rs1032306904 |
176 | L>P | No |
ClinGen TOPMed |
|
|
CA411586282 rs1445522832 |
178 | R>G | No |
ClinGen gnomAD |
|
|
CA10235879 rs765059084 |
180 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10235878 rs761431666 |
181 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10235876 rs768058646 |
182 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 182 | W>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411586224 rs1603228915 |
187 | T>P | No |
ClinGen Ensembl |
|
|
CA10235873 rs373389858 |
190 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149088273 CA10235872 |
190 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411586185 rs1446960911 |
193 | T>P | No |
ClinGen gnomAD |
|
|
rs1265620665 CA411586179 |
194 | A>P | No |
ClinGen gnomAD |
|
|
CA324307806 rs778335481 |
195 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411586166 rs1235181879 |
196 | S>C | No |
ClinGen gnomAD |
|
|
CA10235869 rs756494197 |
197 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10235867 rs577055913 |
198 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs577055913 CA10235868 |
198 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 200 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145042745 CA324307774 COSM1416285 |
200 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
|
CA10235865 rs751598721 |
202 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 203 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411586114 rs1484052837 |
205 | R>K | No |
ClinGen TOPMed |
|
|
CA10235836 rs150381950 |
206 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10235833 rs568825133 |
206 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs568825133 CA10235834 |
206 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568825133 CA411586096 |
206 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768995891 CA10235832 |
207 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA411586085 rs1376134458 |
208 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1203432157 CA411586087 |
208 | S>P | No |
ClinGen gnomAD |
|
|
CA411586081 rs1276541863 |
209 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1229008286 CA411586076 |
210 | L>M | No |
ClinGen gnomAD |
|
|
rs1427541365 CA411586055 |
213 | F>C | No |
ClinGen TOPMed |
|
|
CA324307231 rs910518743 |
213 | F>L | No |
ClinGen TOPMed |
|
|
CA411586044 rs1391447026 |
215 | W>R | No |
ClinGen TOPMed |
|
|
rs1883206 CA10235828 |
219 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10235825 rs749163545 |
220 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs777685939 CA10235824 |
221 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1310270304 CA411586007 |
221 | L>P | No |
ClinGen gnomAD |
|
|
CA411585997 rs1347929776 |
223 | L>V | No |
ClinGen TOPMed |
|
|
rs752409009 CA10235822 |
224 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs202180514 CA324307196 |
227 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA411585975 rs1434367308 |
227 | T>P | No |
ClinGen gnomAD |
|
|
rs912214467 CA324307192 |
228 | Y>C | No |
ClinGen Ensembl |
|
|
CA639242269 rs1398238544 |
230 | A>* | No |
ClinGen gnomAD |
|
|
rs757781167 CA10235797 |
230 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs754384529 CA10235796 |
230 | A>V | No |
ClinGen ExAC |
|
|
CA10235795 rs146381067 |
231 | W>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1320537473 CA639242265 |
233 | F>* | No |
ClinGen gnomAD |
|
|
rs761062467 CA10235794 |
234 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs775876506 CA10235793 |
235 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 236 | Y>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767850628 CA10235792 |
236 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA411585892 rs1457115271 |
237 | G>V | No |
ClinGen gnomAD |
|
|
rs1459995780 CA411585869 |
241 | F>S | No |
ClinGen TOPMed |
|
|
CA10235790 rs200980012 |
242 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs183441911 CA10235788 |
246 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10235787 rs773312082 |
250 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA324305403 rs1051031562 |
251 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA411585800 rs1051031562 |
251 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768332450 CA10235783 |
255 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1297466888 CA411585767 |
256 | R>K | No |
ClinGen gnomAD |
|
|
CA10235781 rs779516717 |
257 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201945306 CA10235778 |
258 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA324305369 rs201135397 |
259 | E>K | No |
ClinGen Ensembl |
|
|
rs1294996365 CA411585740 |
260 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA324305368 rs370773838 |
260 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1389379124 CA411585725 |
262 | E>D | No |
ClinGen gnomAD |
|
|
rs756666747 CA10235777 |
262 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10235776 rs753193569 |
263 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs901495726 CA324305364 |
264 | R>K | No |
ClinGen gnomAD |
|
|
rs901495726 CA411585716 |
264 | R>T | No |
ClinGen gnomAD |
|
|
rs200092509 CA10235773 COSM1034189 |
267 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs759757490 CA10235774 |
267 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs200092509 CA411585696 |
267 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10235771 rs763202316 |
268 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10235770 rs773473614 |
271 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA411585654 rs1364499108 |
272 | A>S | No |
ClinGen gnomAD |
|
|
rs991855830 CA324302089 |
272 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs747536298 CA10235738 |
273 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411585643 rs1346001012 |
274 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA411585639 rs1323225567 |
274 | Q>R | No |
ClinGen gnomAD |
|
|
rs1403926673 CA411585633 |
275 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1164716396 CA411585629 |
276 | V>L | No |
ClinGen gnomAD |
|
|
rs750687695 CA10235735 |
277 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs188815884 CA10235734 |
279 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10235733 rs757445240 |
280 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs754013682 CA10235732 |
284 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10235731 rs764214012 |
285 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10235729 rs775496885 |
286 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046737269 CA324302042 |
286 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA411585566 rs1473859870 |
287 | L>R | No |
ClinGen TOPMed |
|
|
rs1260225165 CA411585557 |
288 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA10235728 rs767225986 |
289 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1399022280 CA411585550 |
290 | L>I | No |
ClinGen TOPMed |
|
|
CA411585542 rs1323189178 |
291 | A>D | No |
ClinGen TOPMed |
|
|
CA10235727 rs759274009 |
291 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA10235726 rs774020383 |
292 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA411585535 rs774020383 |
292 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1274468319 CA411585530 |
293 | E>G | No |
ClinGen gnomAD |
|
|
rs898762503 CA324302014 |
296 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 298 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748914609 CA10235724 |
301 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411585461 rs1173245777 |
303 | M>V | No |
ClinGen gnomAD |
|
|
CA10235721 rs372788944 |
304 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780552225 CA10235720 |
306 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs758857415 CA10235719 |
307 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756168243 CA10235718 |
307 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs566953413 CA411585428 |
309 | E>K | No |
ClinGen 1000Genomes |
|
|
rs566953413 CA324301980 |
309 | E>Q | No |
ClinGen 1000Genomes |
|
|
CA411585424 rs1161979615 |
309 | E>V | No |
ClinGen Ensembl |
|
|
CA10235716 rs757604996 |
310 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs376072154 CA10235713 |
311 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764150835 CA10235714 |
311 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411585406 rs1232490130 |
313 | G>R | No |
ClinGen TOPMed |
|
|
rs759435456 CA10235710 |
314 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA411585390 rs1284231492 |
315 | P>L | No |
ClinGen gnomAD |
|
|
CA411585378 rs1349061886 |
317 | Q>H | No |
ClinGen gnomAD |
|
|
rs1046220171 CA324301940 |
317 | Q>K | No |
ClinGen Ensembl |
|
|
rs762660159 CA10235707 |
318 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762660159 CA10235708 |
318 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529775254 CA10235706 |
319 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs913212748 CA324301906 |
322 | G>D | No |
ClinGen TOPMed |
|
|
rs950187445 CA324301910 |
322 | G>S | No |
ClinGen gnomAD |
|
|
CA324301894 rs1050571908 |
326 | E>G | No |
ClinGen TOPMed |
|
|
CA10235704 rs761363507 |
326 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10235703 rs775900080 |
327 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA324301893 rs532267624 |
329 | L>M | No |
ClinGen 1000Genomes |
|
|
rs564884199 CA10235699 |
330 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746325837 CA10235701 |
330 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA411585301 rs1333572359 |
331 | L>P | No |
ClinGen TOPMed |
|
|
CA10235696 rs199527186 |
333 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411585282 rs1309611354 |
334 | G>V | No |
ClinGen gnomAD |
|
|
CA411585271 rs1288356230 |
336 | V>G | No |
ClinGen TOPMed |
|
|
CA10235694 rs781202948 |
337 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411585264 rs1603220795 |
337 | S>R | No |
ClinGen Ensembl |
|
|
CA411585261 rs1301677505 |
338 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1454092703 CA411585258 |
338 | R>H | No |
ClinGen gnomAD |
|
|
CA10235693 rs754925148 COSM1641547 |
339 | R>C | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs766230597 CA10235691 |
339 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs766230597 CA10235692 |
339 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA411585229 rs1365256167 |
344 | K>Q | No |
ClinGen gnomAD |
|
|
CA411585214 rs1159576798 |
345 | E>D | No |
ClinGen gnomAD |
|
|
CA324301825 rs199968844 |
346 | D>E | No |
ClinGen Ensembl |
|
|
rs964213313 CA324301828 |
346 | D>N | No |
ClinGen gnomAD |
|
|
CA10235689 rs138708 |
348 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776301535 CA10235686 |
349 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA324301789 rs908482598 |
351 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs760121449 CA10235684 |
353 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10235683 rs774990510 |
354 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA411585164 rs1240205767 |
354 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 356 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1488333628 CA411585133 |
357 | E>K | No |
ClinGen gnomAD |
|
|
rs1225276834 CA411585117 |
359 | L>M | No |
ClinGen gnomAD |
|
|
CA411585114 rs1360804433 |
359 | L>P | No |
ClinGen gnomAD |
|
|
rs1389888980 CA411585109 |
360 | S>C | No |
ClinGen TOPMed |
|
|
CA411585092 rs1224604569 |
363 | R>K | No |
ClinGen gnomAD |
|
|
rs1327720662 CA411585076 |
365 | E>D | No |
ClinGen gnomAD |
|
|
rs1295818106 CA411585058 |
368 | Q>K | No |
ClinGen gnomAD |
|
|
rs528746676 CA10235669 |
370 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA411585026 rs1341828640 |
372 | D>A | No |
ClinGen TOPMed |
|
|
rs1425129392 CA411585027 |
372 | D>Y | No |
ClinGen gnomAD |
|
|
CA411585011 rs1166688001 |
374 | F>S | No |
ClinGen gnomAD |
|
|
CA411585001 rs1474456263 |
375 | K>N | No |
ClinGen gnomAD |
|
|
CA10235663 rs372953657 |
379 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411584959 rs1274509559 |
382 | Q>H | No |
ClinGen gnomAD |
|
|
CA411584933 rs1451970985 |
385 | E>K | No |
ClinGen gnomAD |
|
|
CA411584920 rs1456591557 |
386 | A>V | No |
ClinGen TOPMed |
|
|
CA10235639 rs143685496 |
387 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10235638 rs775651955 |
387 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10235640 COSM3842692 rs143685496 |
387 | R>S | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA411584912 rs1411604850 |
388 | I>S | No |
ClinGen gnomAD |
|
|
CA324300987 rs916897665 |
388 | I>V | No |
ClinGen gnomAD |
|
|
CA411584902 rs1157204172 |
390 | Q>* | No |
ClinGen gnomAD |
|
|
CA324300981 rs371668226 |
391 | L>P | No |
ClinGen ESP |
|
|
CA411584865 rs1187519280 |
395 | W>* | No |
ClinGen gnomAD |
|
|
rs1459550986 CA411584861 |
395 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10235619 COSM1616455 rs549899267 CA324300452 |
398 | M>I | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10235620 rs764382637 |
398 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA324300449 rs868706012 |
401 | E>D | No |
ClinGen Ensembl |
|
|
rs189897179 CA10235617 |
402 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775568593 CA10235618 |
402 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA411584776 rs1423190877 |
406 | S>G | No |
ClinGen gnomAD |
|
|
rs1423190877 CA411584777 |
406 | S>R | No |
ClinGen gnomAD |
|
|
rs1174632975 CA411584719 |
415 | E>A | No |
ClinGen gnomAD |
|
|
rs1603218012 CA411584711 |
416 | D>A | No |
ClinGen Ensembl |
|
|
CA411584713 rs1211601880 |
416 | D>N | No |
ClinGen TOPMed |
|
|
rs1251766961 CA411584697 |
418 | L>V | No |
ClinGen TOPMed |
|
|
rs938909577 CA324300396 |
420 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs780688397 CA10235609 |
421 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324300358 rs1044777797 |
422 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs923471619 CA411584649 |
426 | A>E | No |
ClinGen TOPMed |
|
|
rs923471619 CA324300340 |
426 | A>V | No |
ClinGen TOPMed |
|
|
rs1403464039 CA411584642 |
427 | A>V | No |
ClinGen gnomAD |
|
|
rs1347840351 CA411584636 |
429 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 429 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411584596 rs1410101305 |
435 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA10235603 rs764507309 |
436 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs555329396 CA10235602 COSM1196009 |
436 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs372331900 CA411584586 |
437 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA324300280 rs372331900 |
437 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs372331900 CA324300277 |
437 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA324300231 rs373258433 |
443 | P>L | No |
ClinGen Ensembl |
|
|
CA411584549 rs1308199788 |
443 | P>S | No |
ClinGen gnomAD |
|
|
CA411584521 rs1221940256 |
447 | Q>K | No |
ClinGen gnomAD |
|
|
CA10235593 rs749230478 |
450 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11547955 CA324300168 |
452 | D>V | No |
ClinGen Ensembl |
|
|
rs778350201 CA10235566 |
454 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 459 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 461 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411584398 rs1217915543 |
464 | F>L | No |
ClinGen gnomAD |
|
|
CA411584380 rs766680217 |
467 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10235560 rs766680217 |
467 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10235559 rs758653349 |
467 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10235557 rs765349723 |
468 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA10235556 rs374336983 |
468 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10235558 rs765349723 |
468 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1363733396 CA411584369 |
469 | G>V | No |
ClinGen gnomAD |
|
|
rs200570507 CA10235555 |
470 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394635904 CA411584366 |
470 | G>R | No |
ClinGen TOPMed |
|
|
CA411584360 rs1175543236 |
471 | G>D | No |
ClinGen TOPMed |
|
|
rs1423836761 CA411584363 |
471 | G>S | No |
ClinGen gnomAD |
|
|
CA10235554 rs763851940 |
472 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10235553 rs760492857 |
472 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 472 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10235551 rs200401658 |
473 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370307711 CA10235550 |
474 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1340294697 CA411584321 |
478 | R>K | No |
ClinGen gnomAD |
|
|
rs773859385 CA10235549 |
480 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA411584297 rs1194835034 |
481 | M>R | No |
ClinGen gnomAD |
|
|
COSM1416282 CA411584283 rs1392266565 |
483 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs201615116 CA324299710 |
484 | Q>* | No |
ClinGen Ensembl |
|
|
rs770475003 CA10235548 |
486 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781710685 CA10235546 |
486 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs781710685 CA10235547 |
486 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA411584257 rs1250274550 |
487 | E>D | No |
ClinGen gnomAD |
|
|
rs755340664 CA10235545 |
488 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1345241215 CA411584255 |
488 | L>R | No |
ClinGen TOPMed |
|
|
rs200673154 CA324299649 |
489 | E>K | No |
ClinGen Ensembl |
|
|
CA10235541 rs758708361 |
496 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA411584203 rs758708361 |
496 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs757345858 CA10235538 |
498 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA10235539 rs778927026 |
498 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324299598 rs916541479 |
500 | Q>H | No |
ClinGen Ensembl |
|
|
rs570008595 CA10235536 |
501 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753766628 CA10235537 |
501 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760487559 CA10235535 |
502 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA10235534 rs145490494 |
503 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145490494 CA411584156 |
503 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140381759 CA10235531 |
508 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10235530 rs770399092 |
508 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10235527 rs141362080 |
510 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1258279479 CA411584099 |
513 | L>M | No |
ClinGen gnomAD |
|
|
CA411584079 rs746147670 |
516 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324299564 rs990283705 |
516 | Q>K | No |
ClinGen Ensembl |
|
|
CA324299526 rs746204655 |
517 | K>N | No |
ClinGen Ensembl |
|
|
CA10235522 rs779171958 |
518 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA10235521 rs531098802 |
519 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1335089782 CA411584054 |
520 | V>A | No |
ClinGen gnomAD |
|
|
rs753979660 CA10235519 |
523 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA411583995 rs1166048110 |
527 | Q>H | No |
ClinGen TOPMed |
|
|
rs1407691877 CA411583989 |
528 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 530 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149140279 CA10235500 |
531 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756176255 CA10235497 |
532 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411583957 rs1384730809 |
533 | K>R | No |
ClinGen gnomAD |
|
|
rs1471448794 CA411583952 |
534 | Q>* | No |
ClinGen gnomAD |
|
|
rs1381534935 CA411583946 |
534 | Q>H | No |
ClinGen gnomAD |
|
|
rs998258019 CA324299325 |
537 | Q>L | No |
ClinGen TOPMed |
|
|
rs539760038 CA10235495 |
538 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10235494 rs754873310 |
543 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA324299312 rs867249689 |
543 | R>H | No |
ClinGen gnomAD |
|
|
CA10235493 rs751392512 |
544 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs756016098 CA324299292 |
545 | G>E | No |
ClinGen Ensembl |
|
|
rs750039034 CA10235490 |
546 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 550 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 550 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10235488 rs371792357 |
554 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1166761346 CA411583795 |
557 | S>G | No |
ClinGen TOPMed |
|
|
rs1437365102 CA411583791 |
557 | S>N | No |
ClinGen gnomAD |
|
|
CA10235455 rs371141749 |
558 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139325445 CA324298947 |
560 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10235454 rs139325445 |
560 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10235453 rs756979955 |
561 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1603215958 CA411583769 |
561 | T>P | No |
ClinGen Ensembl |
|
|
rs1294675920 CA411583761 |
562 | R>Q | No |
ClinGen gnomAD |
|
|
CA411583749 rs1352285124 |
564 | S>F | No |
ClinGen gnomAD |
|
|
CA324298935 rs868474704 |
568 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA411583701 rs1295547810 |
571 | T>S | No |
ClinGen TOPMed |
|
|
rs1176573426 CA411583698 |
572 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 572 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411583679 rs1569295140 |
575 | S>G | No |
ClinGen Ensembl |
|
|
CA411583662 rs1258519512 |
577 | F>S | No |
ClinGen TOPMed |
|
|
rs750800615 CA10235445 |
578 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10235442 rs776822245 |
579 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1314363323 CA411583637 |
581 | L>P | No |
ClinGen gnomAD |
|
|
CA411583631 COSM3783558 rs1370457089 |
582 | W>* | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA411583629 rs1370457089 |
582 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10235439 rs760638811 |
582 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA324298859 rs1030362612 |
583 | Y>C | No |
ClinGen TOPMed |
|
|
CA324298856 rs900320142 |
584 | H>D | No |
ClinGen Ensembl |
|
|
CA411583603 rs1256678018 |
586 | Q>L | No |
ClinGen TOPMed |
|
|
rs1418271259 CA411583597 |
587 | S>* | No |
ClinGen TOPMed |
|
|
CA10235438 rs775697034 |
589 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10235417 rs770892695 |
595 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759611654 CA10235419 |
595 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA324298695 rs959625630 |
596 | V>M | No |
ClinGen Ensembl |
|
|
rs1179496851 CA411583522 |
597 | H>Q | No |
ClinGen TOPMed |
|
|
CA411583515 rs1394617985 |
598 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 602 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384723835 CA411583482 |
603 | A>T | No |
ClinGen gnomAD |
|
|
CA10235415 rs773014476 |
605 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA411583444 CA324298652 rs1062687 |
608 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA324298651 rs949979981 |
609 | G>A | No |
ClinGen TOPMed |
|
|
rs754499171 CA10235411 |
611 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1265913645 CA411583423 |
612 | V>M | No |
ClinGen gnomAD |
|
|
CA10235409 rs182710324 |
614 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757720826 CA10235408 |
614 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10235410 rs182710324 |
614 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764461193 CA10235406 |
618 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10235405 rs756290355 |
618 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752955980 CA10235404 |
619 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10235402 rs566312173 |
620 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10235401 rs117425989 |
622 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 622 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs529451583 CA10235400 |
623 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10235398 rs772891603 |
624 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs747814641 CA10235396 |
629 | V>L | No |
ClinGen ExAC |
|
|
CA411583318 rs1170032921 |
631 | K>E | No |
ClinGen gnomAD |
|
|
rs1021027363 CA324298620 |
632 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA10235395 rs776326441 |
632 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs74436843 CA324298613 |
635 | P>A | No |
ClinGen Ensembl |
|
|
CA411583289 rs1490324925 |
635 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1490324925 CA411583290 |
635 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1569294641 CA411583282 |
636 | N>K | No |
ClinGen Ensembl |
|
|
rs746551792 CA10235393 |
636 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA411583235 rs1192940573 |
643 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 644 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10235390 rs749732277 |
647 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411583204 rs1216450168 |
648 | I>V | No |
ClinGen gnomAD |
|
|
rs1332354011 CA411583175 |
650 | G>V | No |
ClinGen gnomAD |
|
|
CA10235371 rs749813392 |
653 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778318369 CA10235370 |
656 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 658 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781644199 CA10235367 |
662 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs938202473 CA324298437 |
663 | G>A | No |
ClinGen Ensembl |
|
|
rs1285036282 CA411583085 |
664 | K>Q | No |
ClinGen TOPMed |
|
|
rs1372936609 CA411583081 |
664 | K>R | No |
ClinGen TOPMed |
|
|
rs549404842 CA10235364 |
668 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10235363 rs758483512 |
669 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA10235360 rs761605212 |
671 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10235361 VAR_024624 rs2072797 |
671 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA411583030 rs1569294231 |
672 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs367828475 CA10235359 |
673 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1238026474 CA411583013 |
674 | I>T | No |
ClinGen gnomAD |
|
|
rs763810055 CA10235358 |
676 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1447580575 CA411582994 |
677 | F>Y | No |
ClinGen gnomAD |
|
|
rs539775471 CA411582984 |
678 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10235355 rs771616583 |
678 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10235353 rs773688592 |
679 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1486287848 CA411582972 |
680 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1333014577 CA411582556 |
681 | A>V | No |
ClinGen gnomAD |
|
|
CA411582546 rs375420471 |
683 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10235315 COSM1034183 rs375420471 |
683 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA411582541 rs1205365689 |
684 | M>K | No |
ClinGen TOPMed |
|
|
CA411582525 rs150292176 |
686 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761203177 CA10235311 |
687 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1439214447 CA411582517 |
688 | Q>K | No |
ClinGen gnomAD |
|
|
rs137996727 CA10235306 |
693 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10235307 rs137996727 |
693 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370298150 CA10235308 |
693 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs535964776 CA10235304 |
698 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10235305 rs749399586 |
698 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411582443 rs1373718222 |
700 | H>N | No |
ClinGen gnomAD |
|
|
CA411582433 rs1350897978 |
701 | P>R | No |
ClinGen gnomAD |
|
|
CA10235303 rs756051703 |
701 | P>T | No |
ClinGen ExAC gnomAD |
|
|
COSM295847 CA10235301 rs781099795 |
702 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs377445434 CA10235299 |
705 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10235298 rs779606940 |
706 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA411582385 rs1303616265 |
708 | R>H | No |
ClinGen TOPMed |
|
|
rs1157995618 CA411582366 |
711 | V>L | No |
ClinGen gnomAD |
|
|
rs1279831999 CA411582350 |
713 | G>E | No |
ClinGen TOPMed |
|
|
rs14670 CA324295291 |
713 | G>W | No |
ClinGen Ensembl |
|
|
CA324295289 rs1045770195 |
715 | P>S | No |
ClinGen Ensembl |
|
|
rs200715757 CA10235296 |
716 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1462072765 CA411582328 |
717 | H>D | No |
ClinGen gnomAD |
|
|
CA411582327 rs1160622186 |
717 | H>P | No |
ClinGen gnomAD |
|
|
rs917841252 CA324295284 |
717 | H>Q | No |
ClinGen Ensembl |
No associated diseases with Q9UH99
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
| condensed nuclear chromosome | A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct nuclear chromosome. |
| endosome membrane | The lipid bilayer surrounding an endosome. |
| meiotic nuclear membrane microtubule tethering complex | A nuclear membrane protein complex which connects the nuclear outer and inner membranes together, and links links the nuclear lumen to cytoplasmic microtubules during meiosis. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
| nuclear inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| cytoskeleton-nuclear membrane anchor activity | The binding activity of a molecule that brings together a cytoskeletal protein or protein complex and a nuclear membrane lipid or membrane-associated protein, in order to maintain the localization of the cytoskeleton at a specific location of the nuclear membrane. |
| identical protein binding | Binding to an identical protein or proteins. |
| lamin binding | Binding to lamin; any of a group of intermediate-filament proteins that form the fibrous matrix on the inner surface of the nuclear envelope. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| protein-membrane adaptor activity | The binding activity of a molecule that brings together a protein or a protein complex with a membrane, or bringing together two membranes, either via membrane lipid binding or by interacting with a membrane protein, to establish or maintain the localization of the protein, protein complex or organelle. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| centrosome localization | Any process in which a centrosome is transported to, and/or maintained in, a specific location within the cell. |
| meiotic cell cycle | Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions. |
| mitotic spindle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle. |
| nuclear matrix anchoring at nuclear membrane | The process in which the nuclear matrix, the dense fibrillar network lying on the inner side of the nuclear membrane, is directly or indirectly linked to the nuclear membrane. |
| nuclear migration | The directed movement of the nucleus to a specific location within a cell. |
| nuclear migration along microfilament | The directed movement of the nucleus along microfilaments within the cell, mediated by motor proteins. |
| nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration | The microtubule-mediated movement of the nucleus that is required for the movement of cells along radial glial fibers as a component of the process of cerebral cortex glial-mediated radial cell migration. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P47069 | MPS3 | Spindle pole body assembly component MPS3 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q8TC36 | SUN5 | SUN domain-containing protein 5 | Homo sapiens (Human) | PR |
| O94901 | SUN1 | SUN domain-containing protein 1 | Homo sapiens (Human) | SS |
| Q9DA32 | Sun5 | SUN domain-containing protein 5 | Mus musculus (Mouse) | PR |
| Q9D666 | Sun1 | SUN domain-containing protein 1 | Mus musculus (Mouse) | EV |
| Q8BJS4 | Sun2 | SUN domain-containing protein 2 | Mus musculus (Mouse) | EV |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSRRSQRLTR | YSQGDDDGSS | SSGGSSVAGS | QSTLFKDSPL | RTLKRKSSNM | KRLSPAPQLG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PSSDAHTSYY | SESLVHESWF | PPRSSLEELH | GDANWGEDLR | VRRRRGTGGS | ESSRASGLVG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RKATEDFLGS | SSGYSSEDDY | VGYSDVDQQS | SSSRLRSAVS | RAGSLLWMVA | TSPGRLFRLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YWWAGTTWYR | LTTAASLLDV | FVLTRRFSSL | KTFLWFLLPL | LLLTCLTYGA | WYFYPYGLQT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FHPALVSWWA | AKDSRRPDEG | WEARDSSPHF | QAEQRVMSRV | HSLERRLEAL | AAEFSSNWQK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EAMRLERLEL | RQGAPGQGGG | GGLSHEDTLA | LLEGLVSRRE | AALKEDFRRE | TAARIQEELS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ALRAEHQQDS | EDLFKKIVRA | SQESEARIQQ | LKSEWQSMTQ | ESFQESSVKE | LRRLEDQLAG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LQQELAALAL | KQSSVAEEVG | LLPQQIQAVR | DDVESQFPAW | ISQFLARGGG | GRVGLLQREE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MQAQLRELES | KILTHVAEMQ | GKSAREAAAS | LSLTLQKEGV | IGVTEEQVHH | IVKQALQRYS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EDRIGLADYA | LESGGASVIS | TRCSETYETK | TALLSLFGIP | LWYHSQSPRV | ILQPDVHPGN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| CWAFQGPQGF | AVVRLSARIR | PTAVTLEHVP | KALSPNSTIS | SAPKDFAIFG | FDEDLQQEGT |
| 670 | 680 | 690 | 700 | 710 | |
| LLGKFTYDQD | GEPIQTFHFQ | APTMATYQVV | ELRILTNWGH | PEYTCIYRFR | VHGEPAH |