Q9NZC9
PR
Gene name |
SMARCAL1 (HARP) |
Protein name |
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 |
Names |
HepA-related protein, hHARP, Sucrose nonfermenting protein 2-like 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:50485 |
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
2 structures for Q9NZC9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4MQV | X-ray | 195 A | B/D | 5-30 | PDB |
| AF-Q9NZC9-F1 | Predicted | AlphaFoldDB |
780 variants for Q9NZC9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000004389 CA253020 rs119473034 |
17 | R>* | Schimke immuno-osseous dysplasia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs753690688 CA2097551 COSM1016228 RCV001223616 |
23 | R>C | Schimke immuno-osseous dysplasia endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001337400 rs866396456 CA65577625 |
23 | R>H | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs886055616 CA10612413 RCV000334662 |
26 | E>K | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1237615679 RCV001304725 CA350496432 |
31 | E>G | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs119473035 RCV000004390 CA253023 |
34 | Q>* | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000245623 CA2097561 VAR_021363 RCV000389009 RCV001551485 rs2066524 |
43 | A>T | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA350496712 rs766086132 RCV000688239 |
60 | E>A | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001344419 rs1441502670 CA350496810 |
74 | Q>R | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001203760 CA350496849 rs1346269253 |
79 | S>L | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001089943 rs1693554666 |
84 | Q>missing | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1574443133 RCV000795753 |
90 | H>missing | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1693556617 RCV001210892 |
114 | R>missing | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000177276 RCV001088116 rs202031614 CA243409 |
114 | R>G | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002294066 RCV000177274 RCV001706133 CA202386 RCV000294706 rs11555797 VAR_021364 |
114 | R>H | Kidney disorder Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001204167 rs1693557419 |
122 | I>V | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000991373 rs1574443257 |
124 | P>missing | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001244907 CA2097586 rs62178625 |
127 | A>P | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001279832 CA2097587 rs762590281 |
128 | Q>E | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001035667 rs781023326 RCV000735045 |
139 | L>missing | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA350497270 rs1296535575 RCV002552602 RCV001046698 |
141 | Y>C | Schimke immuno-osseous dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA350497321 RCV001242020 rs1264577481 |
149 | Q>* | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs376295895 RCV001306752 CA2097594 RCV002543177 |
150 | A>S | Schimke immuno-osseous dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs748188404 CA2097599 RCV000794110 |
163 | T>N | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777999697 RCV001241951 RCV000592279 CA2097601 |
169 | K>R | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1693565636 RCV001140408 |
178 | A>S | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2097607 rs774029345 RCV001231726 |
183 | Q>H | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2097613 RCV000689239 rs754147208 |
189 | K>E | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1693572522 RCV001042702 |
226 | S>L | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs985760536 RCV001140409 |
231 | Q>H | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000414912 RCV001196355 rs748106387 CA16043385 |
241 | C>* | Schimke immuno-osseous dysplasia Atrioventricular septal defect [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs375140716 CA2097644 RCV001238928 |
242 | V>I | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1574443795 CA350497934 RCV000805076 |
245 | G>D | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001140410 rs1693575449 |
250 | V>L | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1693575527 RCV001336148 |
252 | I>T | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751712707 RCV001040438 CA2097654 |
256 | A>V | Schimke immuno-osseous dysplasia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2097657 rs750671325 RCV000686205 |
259 | I>T | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001318532 rs754882213 CA2097658 |
261 | V>E | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1693577284 RCV001062876 |
263 | K>* | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001337772 rs558788774 CA2097696 |
276 | T>M | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000820460 CA2097700 rs775057827 RCV000681816 |
279 | F>S | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1382103008 RCV001300791 CA350498183 |
281 | M>V | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs767482393 CA2097730 RCV001034816 |
289 | K>T | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2097734 RCV001528049 RCV000556019 rs146084305 RCV000244323 |
301 | P>A | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1312214950 CA350498372 RCV000638571 |
308 | S>G | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000390495 RCV001610494 RCV002294068 CA203098 rs2066522 RCV000178931 VAR_021367 |
315 | S>R | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA246129 RCV001080195 RCV000178929 rs148752234 |
321 | G>D | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs371378288 CA2097746 RCV001142273 |
321 | G>S | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000765601 rs138575228 CA2097754 RCV000342892 |
334 | R>Q | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001048517 rs745997031 CA2097759 |
344 | E>G | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM1482758 rs370663120 RCV000813941 CA2097758 |
344 | E>K | Schimke immuno-osseous dysplasia Variant assessed as Somatic; 0.0 impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000768320 COSM21743 CA2097764 rs772913825 |
355 | A>V | Schimke immuno-osseous dysplasia Variant assessed as Somatic; 0.0 impact. large_intestine skin [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs369180164 CA2097766 RCV000822517 |
357 | F>I | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001610497 RCV002294070 RCV000179473 VAR_021368 CA203306 rs2066518 RCV000360766 |
377 | E>Q | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000202608 CA339626 rs864309531 |
378 | E>* | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs141881295 CA2097808 RCV001142274 COSM1016236 |
387 | R>H | Schimke immuno-osseous dysplasia Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000700786 rs766291662 |
397 | L>missing | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139872089 CA2097812 RCV000594612 RCV000302549 |
399 | T>M | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001205385 rs1693893975 |
404 | A>missing | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000543390 RCV002294344 rs58848916 CA2097820 |
415 | S>G | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs535448005 RCV000804838 |
417 | T>missing | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002294215 RCV000397091 RCV000262629 VAR_021369 rs2066520 CA2097824 RCV001573671 |
424 | D>V | Kidney disorder Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000808161 rs374696042 CA2097827 |
433 | V>M | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs771757954 CA2097830 RCV000688153 |
439 | F>L | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs778972713 RCV001300013 COSM3723641 CA2097862 |
457 | A>T | upper_aerodigestive_tract Schimke immuno-osseous dysplasia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs1574456732 CA350500047 RCV000800856 |
459 | D>N | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000625629 rs1553526162 |
462 | L>missing | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209657 VAR_021370 rs1693994454 |
468 | A>P | Schimke immuno-osseous dysplasia SIOD [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV000277452 rs571392819 CA2097873 |
472 | A>T | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs142164846 RCV000393639 CA2097876 RCV000765602 |
476 | R>Q | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2097883 rs758367100 RCV001059601 |
480 | P>L | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000820619 CA350500213 rs1574456834 |
485 | V>L | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2097891 RCV001041723 rs529024384 |
490 | R>H | Schimke immuno-osseous dysplasia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000599374 CA350500275 RCV002498879 rs1553526228 |
495 | Q>* | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2097909 RCV001867935 RCV000594740 rs145264115 |
499 | R>Q | Schimke immuno-osseous dysplasia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001205978 rs1694058662 |
502 | P>missing | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002294429 rs35087810 CA2097918 RCV000973816 |
512 | V>M | Kidney disorder Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs763864983 RCV001035074 CA2097920 |
518 | R>C | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2097921 RCV000808602 rs774075396 |
518 | R>H | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs968239393 CA350500521 RCV000700807 |
532 | L>F | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2097931 RCV002563898 RCV001237665 COSM1226773 rs753062232 |
541 | T>N | Schimke immuno-osseous dysplasia large_intestine Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs119473036 CA253026 RCV000004391 VAR_021371 |
548 | I>N | Schimke immuno-osseous dysplasia SIOD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA2097936 RCV001245584 rs781453232 |
548 | I>V | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001207503 TCGA novel rs1694125419 |
563 | R>* | Schimke immuno-osseous dysplasia Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV001218003 rs765026783 |
567 | P>T | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs138819354 RCV000814798 CA2097993 RCV002526018 RCV000489879 |
576 | I>T | Schimke immuno-osseous dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1694331040 VAR_021372 RCV001216644 |
579 | S>L | Schimke immuno-osseous dysplasia SIOD [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV001313412 RCV002543627 rs1694331950 |
584 | M>V | Schimke immuno-osseous dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA253032 rs119473038 VAR_021373 RCV001849256 RCV000004393 |
586 | R>W | Schimke immuno-osseous dysplasia Nephrotic syndrome SIOD; impairs without abolishing annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA350501688 RCV001327880 rs769553029 |
588 | A>S | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000794187 rs769553029 CA2098001 RCV000332107 |
588 | A>T | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199876834 COSM1405383 CA2098002 RCV001277348 |
592 | T>M | Schimke immuno-osseous dysplasia large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002491188 rs199876834 RCV000598435 CA65606202 |
592 | T>R | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000819575 RCV002517671 rs143100109 RCV000174124 CA239596 |
596 | A>T | Schimke immuno-osseous dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2098013 rs199805996 RCV001277349 |
617 | R>L | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_021374 RCV001280866 rs1313658611 CA350502057 |
644 | R>W | Schimke immuno-osseous dysplasia Variant assessed as Somatic; 4.62e-05 impact. SIOD [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
rs1694436631 RCV001205193 |
645 | R>missing | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs119473037 RCV000004392 VAR_021375 COSM3838556 CA253029 |
645 | R>C | Schimke immuno-osseous dysplasia Variant assessed as Somatic; 0.0 impact. breast SIOD [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_021376 | 647 | K>Q | SIOD [UniProt] | Yes | UniProt |
| VAR_021377 | 647 | K>T | SIOD [UniProt] | Yes | UniProt |
|
CA2098059 RCV000901378 rs200734842 |
650 | V>I | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2098061 RCV001305151 RCV001328268 rs148893764 |
659 | R>C | Schimke immuno-osseous dysplasia Variant assessed as Somatic; 0.0 impact. Atypical hemolytic-uremic syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP |
|
CA2098064 rs749447889 RCV001277350 |
662 | V>A | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000792973 rs768868466 CA2098065 |
665 | A>S | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001277351 CA2098068 rs189863563 |
668 | R>W | Schimke immuno-osseous dysplasia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs752621052 CA2098072 RCV000638570 |
670 | N>S | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1694788304 RCV001206554 |
695 | K>Q | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200644381 RCV001027620 RCV000778915 CA2098098 VAR_021379 RCV001592958 |
705 | T>I | Schimke immuno-osseous dysplasia Inherited Immunodeficiency Diseases SIOD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs372158077 RCV000801654 CA2098099 |
714 | I>T | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001328269 rs1694866812 |
731 | F>missing | Atypical hemolytic-uremic syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2271336 VAR_021380 CA2098142 RCV000548531 COSM209988 RCV002294345 |
742 | T>M | Kidney disorder Schimke immuno-osseous dysplasia large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2098147 RCV001241629 rs369634860 |
748 | K>M | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs764751292 RCV001340291 CA2098165 |
749 | H>Y | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1226816517 RCV000701211 CA350503914 |
754 | R>C | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001035294 rs578123335 CA2098170 RCV002511018 |
755 | I>V | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs267607071 VAR_021381 RCV000004395 CA253035 |
764 | R>Q | Schimke immuno-osseous dysplasia SIOD; abolishes annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM171416 RCV001849404 CA350503975 RCV000586742 rs1480919035 |
764 | R>W | Schimke immuno-osseous dysplasia large_intestine Variant assessed as Somatic; impact. Nephrotic syndrome [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA2098174 RCV000524685 rs149425324 |
774 | S>* | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002487272 rs149425324 RCV000401740 CA2098175 |
774 | S>L | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002563771 CA2098181 rs745349150 RCV001232045 |
781 | V>M | Schimke immuno-osseous dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2098186 RCV001054736 rs528033845 |
797 | D>N | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001311984 rs200679534 RCV000799095 CA2098187 |
801 | F>V | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001063072 rs1695052762 |
809 | G>R | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001336147 rs1172616375 CA350504712 |
817 | R>H | Schimke immuno-osseous dysplasia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001269553 CA2098212 VAR_021382 RCV001027621 rs200666300 RCV001040718 |
820 | R>H | Schimke immuno-osseous dysplasia Inherited Immunodeficiency Diseases SIOD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000804695 rs756015461 CA2098217 |
833 | V>M | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001338552 rs369844668 CA2098220 |
838 | A>T | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2098243 RCV001242582 rs372298863 |
845 | L>Q | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002472924 RCV000004388 rs119473033 RCV000415311 CA253017 RCV001849255 |
848 | E>* | Schimke immuno-osseous dysplasia Atrioventricular septal defect Nephrotic syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000590927 CA350504978 rs1553535161 |
857 | G>E | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2098255 RCV000796943 rs752153044 RCV002537035 |
867 | T>I | Schimke immuno-osseous dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2098275 rs190386780 RCV000638572 |
881 | K>Q | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001301608 rs763712548 CA2098278 |
884 | D>N | Schimke immuno-osseous dysplasia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA913189453 rs1559140275 RCV000779306 |
887 | Q>* | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000638569 CA2098294 rs763670564 |
912 | S>L | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1695230816 RCV001277352 |
913 | G>E | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001242768 RCV000319671 CA2098300 rs200431186 |
922 | M>T | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs767258073 RCV001321139 CA2098299 |
922 | M>V | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1559140332 CA350505436 RCV000692404 |
923 | G>E | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001347226 CA350505597 rs1457757664 |
946 | N>T | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA350505628 rs1168400155 RCV001277353 |
950 | F>C | Schimke immuno-osseous dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2097542 rs771595818 |
2 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs776954061 CA350496170 |
3 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2097545 rs759708352 |
6 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs759708352 CA2097544 |
6 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2097547 rs775840273 |
10 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775840273 CA65577565 |
10 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775840273 CA2097546 |
10 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750249967 CA2097549 |
13 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs764235085 CA2097548 |
13 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 14 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1025354304 CA65577568 |
14 | E>K | No |
ClinGen TOPMed |
|
|
CA2097550 rs766393568 |
17 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs960487871 CA65577582 |
19 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA350496286 rs1386481163 |
20 | A>G | No |
ClinGen TOPMed |
|
|
COSM176659 rs1472810771 CA350496290 |
21 | L>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA65577599 VAR_038370 rs17851400 |
22 | A>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs866396456 CA350496316 |
23 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350496421 rs1421489011 |
30 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1159025927 CA350496423 |
31 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1159025927 CA350496425 |
31 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA350496441 rs1374557453 |
32 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA350496446 rs1412718908 |
32 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA350496461 rs1559120671 |
33 | H>R | No |
ClinGen Ensembl |
|
|
rs752194629 CA2097554 |
34 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2097555 rs758124275 |
38 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs149631446 CA2097560 |
42 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2097559 rs199905841 |
42 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350496592 rs2066524 |
43 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350496609 rs1166043129 |
45 | N>T | No |
ClinGen TOPMed |
|
| TCGA novel | 50 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350496658 rs768891693 COSM720030 |
52 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs768891693 CA2097564 |
52 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs868845928 CA65577777 |
53 | P>L | No |
ClinGen Ensembl |
|
|
rs774538893 CA2097565 |
54 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1319175686 CA350496674 |
55 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 56 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420493411 CA350496701 |
58 | P>L | No |
ClinGen TOPMed |
|
|
rs760506303 CA2097566 |
59 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs760506303 CA350496705 |
59 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1279089601 CA350496714 |
60 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs766086132 CA2097567 |
60 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490373616 CA350496723 |
62 | C>R | No |
ClinGen TOPMed |
|
|
rs759402336 CA2097569 |
65 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 66 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2097570 rs765151021 |
67 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2097571 rs752282615 |
68 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 72 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350496803 rs1261911558 |
73 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350496857 rs1444762648 |
81 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA350496883 rs1384951552 |
84 | Q>R | No |
ClinGen TOPMed |
|
|
rs757932073 CA2097572 |
86 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350496900 rs1375510051 |
87 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 89 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2097575 rs757706117 |
91 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA350496931 rs757706117 |
91 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA350496928 rs1480454485 |
91 | S>R | No |
ClinGen TOPMed |
|
|
rs976944069 CA65577870 |
95 | K>R | No |
ClinGen Ensembl |
|
|
CA350496964 rs1446343159 |
96 | G>R | No |
ClinGen TOPMed |
|
|
rs781425240 CA2097576 |
98 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA2097577 rs149567782 |
99 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766284659 CA2097579 |
105 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2097580 rs766284659 |
105 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2097578 rs372708949 |
105 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1324603259 CA350497035 |
106 | T>A | No |
ClinGen TOPMed |
|
|
CA350497044 rs1285261177 |
107 | A>D | No |
ClinGen TOPMed |
|
|
rs1315060813 CA350497056 |
109 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA350497062 rs1240851162 |
110 | G>S | No |
ClinGen gnomAD |
|
|
rs1319568251 CA350497075 |
112 | S>G | No |
ClinGen TOPMed |
|
|
rs202031614 CA2097581 |
114 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776290743 CA2097583 |
118 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759332408 CA2097584 |
119 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA350497129 rs1248956625 |
120 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1235903067 CA350497135 |
121 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1167911867 CA350497132 |
121 | G>R | No |
ClinGen TOPMed |
|
|
CA2097585 rs765105653 |
122 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1195278398 CA350497148 |
123 | S>C | No |
ClinGen TOPMed |
|
|
rs1559120849 CA350497152 |
124 | P>S | No |
ClinGen Ensembl |
|
|
rs1053318350 CA65577942 |
125 | P>R | No |
ClinGen TOPMed |
|
|
CA350497176 rs1468611444 |
128 | Q>R | No |
ClinGen gnomAD |
|
|
CA350497214 rs1265232477 |
134 | P>A | No |
ClinGen TOPMed |
|
|
CA350497221 rs1417038083 |
135 | K>E | No |
ClinGen TOPMed |
|
|
rs1338846360 CA350497223 |
135 | K>T | No |
ClinGen TOPMed |
|
|
rs1271242899 CA350497238 |
137 | Q>* | No |
ClinGen TOPMed |
|
|
CA350497257 rs1465106642 CA350497256 |
139 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2097593 rs767158204 |
142 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 142 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756864375 CA2097591 |
142 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA350497284 rs1408822776 |
143 | L>* | No |
ClinGen TOPMed |
|
|
CA65578010 rs905827328 |
144 | G>D | No |
ClinGen TOPMed |
|
|
CA65578003 rs897578907 |
144 | G>R | No |
ClinGen Ensembl |
|
|
rs1294252417 CA350497299 |
146 | G>S | No |
ClinGen Ensembl |
|
|
rs1344618220 CA350497307 |
147 | H>Y | No |
ClinGen gnomAD |
|
|
rs1404591296 CA350497316 |
148 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754343294 CA2097596 |
152 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA350497340 rs1384608239 |
152 | P>S | No |
ClinGen TOPMed |
|
|
CA350497350 rs1481349293 |
153 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1328265311 CA350497352 |
154 | I>V | No |
ClinGen gnomAD |
|
|
CA2097597 rs755113204 |
156 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA350497375 rs1267296633 |
157 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1574443421 CA350497372 |
157 | T>P | No |
ClinGen Ensembl |
|
|
rs1446235096 CA350497378 |
158 | P>T | No |
ClinGen TOPMed |
|
|
rs1479638460 CA350497384 |
159 | F>I | No |
ClinGen gnomAD |
|
|
CA350497409 rs1202044098 |
162 | P>Q | No |
ClinGen gnomAD |
|
|
rs772212169 CA2097600 |
166 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350497459 rs1364921783 |
170 | P>R | No |
ClinGen gnomAD |
|
|
CA2097602 rs745698233 |
170 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs778801075 CA2097603 |
171 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775634898 CA2097604 |
173 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1357917924 CA350497485 |
174 | Q>R | No |
ClinGen TOPMed |
|
|
rs747775289 CA2097605 |
176 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000323953 rs747775289 CA10604223 |
176 | T>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA350497504 rs1213591735 |
177 | P>Q | No |
ClinGen gnomAD |
|
|
CA65578089 rs1015452878 |
178 | A>G | No |
ClinGen TOPMed |
|
|
CA350497512 rs1213262811 |
179 | H>N | No |
ClinGen Ensembl |
|
|
rs768649610 CA2097606 |
182 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs906445943 CA65578103 |
182 | G>R | No |
ClinGen Ensembl |
|
|
rs761340743 CA2097608 |
184 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs761340743 CA2097609 |
184 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1265303129 CA350497549 |
185 | P>S | No |
ClinGen gnomAD |
|
|
CA2097610 rs750062612 |
186 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA2097611 rs761014406 |
187 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1310566486 CA350497563 |
187 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1422223839 CA350497566 |
188 | A>T | No |
ClinGen TOPMed |
|
|
CA2097614 rs755477133 |
189 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1364819570 CA350497579 |
190 | L>V | No |
ClinGen TOPMed |
|
|
CA350497593 rs1429164337 |
192 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1426271073 CA350497601 |
193 | K>E | No |
ClinGen TOPMed |
|
|
rs1002105105 CA65578199 |
194 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA65578198 rs1002105105 |
194 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA350497612 rs1384475600 |
195 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 195 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA65578203 rs1033691702 |
196 | K>T | No |
ClinGen Ensembl |
|
|
CA2097615 rs779348137 |
197 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA350497633 rs1231484959 |
198 | S>F | No |
ClinGen gnomAD |
|
|
rs777896137 CA2097618 |
200 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2097621 rs780006964 |
202 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1255779887 CA350497655 |
202 | Q>R | No |
ClinGen gnomAD |
|
|
CA350497661 rs1313715436 |
203 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 204 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768737511 CA2097623 |
205 | S>F | No |
ClinGen ExAC gnomAD |
|
|
VAR_021366 CA65578254 rs6734114 |
207 | I>F | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA2097626 rs761271788 |
207 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2097627 rs771609695 |
208 | H>R | No |
ClinGen ExAC |
|
|
CA350497703 rs1458680584 |
209 | S>C | No |
ClinGen gnomAD |
|
|
rs1291642162 CA350497706 |
210 | S>G | No |
ClinGen TOPMed |
|
|
CA2097629 rs760336986 |
210 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA350497709 rs760336986 |
210 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2097630 rs765946032 |
212 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs754228770 CA2097631 |
213 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759842283 CA2097632 |
215 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2097633 rs765779796 |
216 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA65578312 rs544173171 |
217 | R>G | No |
ClinGen Ensembl |
|
|
rs758472664 CA2097635 |
217 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350497750 rs1156684141 |
217 | R>T | No |
ClinGen gnomAD |
|
|
rs1431006768 CA350497754 |
218 | T>A | No |
ClinGen gnomAD |
|
|
CA350497759 rs1335722943 |
219 | E>K | No |
ClinGen gnomAD |
|
|
rs371098968 CA2097636 |
221 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350497781 rs1200718606 |
222 | L>F | No |
ClinGen gnomAD |
|
|
CA350497788 rs1316299314 |
223 | Q>P | No |
ClinGen gnomAD |
|
|
CA350497790 rs1316299314 |
223 | Q>R | No |
ClinGen gnomAD |
|
|
rs1378058989 CA350497805 |
225 | K>M | No |
ClinGen gnomAD |
|
|
CA350497808 rs751534116 |
225 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286769892 CA350497816 |
227 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 227 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2097639 rs781515824 |
233 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA65578356 rs781515824 |
233 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1184288846 CA350497864 |
234 | V>G | No |
ClinGen gnomAD |
|
|
CA350497859 rs1462675567 |
234 | V>M | No |
ClinGen gnomAD |
|
|
CA2097640 rs749145673 |
235 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA350497876 rs1469551557 |
236 | S>C | No |
ClinGen gnomAD |
|
|
CA2097641 rs754790488 |
237 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs370414331 CA65578377 |
237 | Q>R | No |
ClinGen ESP TOPMed |
|
|
rs1409850348 CA350497892 |
239 | G>R | No |
ClinGen gnomAD |
|
|
CA2097642 rs778786012 |
240 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA350497913 rs375140716 |
242 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137914185 CA2097647 |
245 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1016232 CA2097649 rs534474398 |
246 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA350497938 rs534474398 |
246 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA65578464 rs867970870 |
247 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1046678608 CA65578470 |
247 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1046678608 CA350497946 |
247 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs867970870 CA350497945 |
247 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1325941966 CA350497955 |
248 | F>L | No |
ClinGen gnomAD |
|
|
CA65578473 rs368040473 |
254 | Y>S | No |
ClinGen ESP |
|
|
rs1285863511 CA350498001 |
255 | N>S | No |
ClinGen TOPMed |
|
|
CA2097655 rs757390175 |
257 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA2097659 rs754882213 |
261 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2097660 rs758085049 |
262 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2097661 rs758387639 |
265 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA350498060 rs758387639 |
265 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA350498071 rs1355626753 |
267 | S>G | No |
ClinGen gnomAD |
|
|
rs770394241 CA2097664 |
267 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA65578523 rs893725036 |
270 | Y>C | No |
ClinGen Ensembl |
|
|
rs745309476 CA2097695 |
273 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2097699 rs768898834 |
278 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA65579409 rs973846704 |
280 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1530525 rs773461156 CA2097703 |
281 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs772642936 CA2097702 |
281 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs760618545 CA2097704 |
283 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2097705 rs577415227 |
284 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1245500584 CA350498204 |
284 | Y>N | No |
ClinGen gnomAD |
|
|
CA2097706 rs753973746 |
285 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2097707 rs202152697 |
286 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1479574863 CA350498255 |
290 | A>T | No |
ClinGen gnomAD |
|
|
rs1268162470 CA350498261 |
291 | A>T | No |
ClinGen TOPMed |
|
|
rs148276420 CA2097731 |
291 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350498284 rs1359789676 |
294 | L>F | No |
ClinGen gnomAD |
|
|
rs1297497711 CA350498293 |
295 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350498297 rs755708465 |
296 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA2097732 rs755708465 |
296 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA350498308 rs1574447716 |
298 | N>T | No |
ClinGen Ensembl |
|
|
CA350498339 rs754712669 |
303 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2097735 rs754712669 |
303 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778664200 CA2097736 |
304 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 305 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350498369 rs1302862134 |
307 | G>D | No |
ClinGen TOPMed |
|
|
CA2097737 rs748576278 |
308 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1574447737 CA350498376 |
308 | S>R | No |
ClinGen Ensembl |
|
|
CA2097738 rs545116067 |
309 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1268583834 CA350498388 |
310 | E>G | No |
ClinGen gnomAD |
|
|
rs747456101 CA2097740 |
310 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA350498394 rs1574447749 |
311 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 311 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350498400 rs1489975642 |
312 | P>A | No |
ClinGen gnomAD |
|
|
rs1426177238 COSM323483 CA350498409 |
313 | S>F | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA65581818 rs964019648 |
314 | T>A | No |
ClinGen TOPMed |
|
|
CA350498411 rs964019648 |
314 | T>P | No |
ClinGen TOPMed |
|
|
CA350498418 rs1434343356 |
315 | S>N | No |
ClinGen TOPMed |
|
|
rs1574447769 CA350498415 |
315 | S>R | No |
ClinGen Ensembl |
|
|
CA350498430 rs1431549731 |
317 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs761663580 CA2097745 |
320 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs371378288 CA2097747 |
321 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2097748 rs150148936 |
322 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350498472 rs1292813370 |
324 | S>P | No |
ClinGen gnomAD |
|
|
rs1343726853 CA350498479 |
325 | A>S | No |
ClinGen gnomAD |
|
|
CA350498482 rs1306445412 |
325 | A>V | No |
ClinGen TOPMed |
|
|
rs1229758296 CA350498490 |
327 | S>P | No |
ClinGen gnomAD |
|
|
rs909294272 CA65581867 |
328 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA65581865 rs909294272 |
328 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2097749 rs754516841 |
329 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA65581881 rs1045725415 |
332 | K>R | No |
ClinGen TOPMed |
|
|
rs1414380977 CA350498539 |
335 | C>S | No |
ClinGen TOPMed |
|
| TCGA novel | 336 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401004374 CA350498586 |
342 | Y>D | No |
ClinGen gnomAD |
|
|
rs1403239152 CA350498597 |
343 | F>S | No |
ClinGen TOPMed |
|
|
CA65581911 rs868176803 |
345 | A>S | No |
ClinGen Ensembl |
|
|
CA350498624 rs1376557231 |
347 | I>T | No |
ClinGen gnomAD |
|
|
CA2097762 rs775747796 |
352 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs769860795 CA2097760 |
352 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs768801748 CA2097763 |
354 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381242841 CA350498680 |
356 | L>F | No |
ClinGen gnomAD |
|
|
rs776604578 CA2097767 |
357 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs759179617 CA2097768 |
359 | Q>* | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA350498702 rs1213884759 |
359 | Q>R | No |
ClinGen gnomAD |
|
|
rs1270278765 CA350498707 |
360 | M>V | No |
ClinGen gnomAD |
|
|
rs764824271 CA2097769 |
363 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA65584319 rs111655657 |
366 | D>G | No |
ClinGen TOPMed |
|
|
rs768780091 CA2097783 |
369 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs779169942 CA350498953 |
370 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350498977 rs1354093975 |
372 | W>* | No |
ClinGen gnomAD |
|
|
CA65584342 rs780659546 |
372 | W>* | No |
ClinGen Ensembl |
|
|
rs1237992271 CA350499026 |
376 | L>S | No |
ClinGen gnomAD |
|
|
rs776770348 CA2097786 |
378 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA350499063 rs1318698668 |
379 | H>P | No |
ClinGen TOPMed |
|
|
CA350499077 rs1276454947 |
380 | S>G | No |
ClinGen TOPMed |
|
|
CA2097804 rs781141727 |
383 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA350499405 rs1418224395 |
384 | A>E | No |
ClinGen gnomAD |
|
|
CA65592012 rs375414504 |
384 | A>T | No |
ClinGen ESP TOPMed |
|
|
rs1021161930 CA65592044 |
386 | V>L | No |
ClinGen TOPMed |
|
|
COSM1405381 CA2097807 rs147448613 |
387 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA350499428 rs1008306850 |
388 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1008306850 CA65592074 |
388 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1448685417 CA350499464 |
393 | Q>H | No |
ClinGen TOPMed |
|
|
CA350499478 rs1420647752 |
395 | D>E | No |
ClinGen gnomAD |
|
|
RCV000421318 CA16604116 rs1057524680 |
397 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA350499494 rs1337608474 |
398 | P>L | No |
ClinGen gnomAD |
|
|
CA2097815 rs761003078 |
404 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2097816 rs761003078 |
404 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1199216201 CA350499535 |
406 | A>T | No |
ClinGen gnomAD |
|
|
CA350499563 rs1391362273 |
410 | K>E | No |
ClinGen gnomAD |
|
|
CA350499565 rs1424371401 |
410 | K>R | No |
ClinGen gnomAD |
|
|
CA350499590 rs1393617522 |
414 | L>V | No |
ClinGen TOPMed |
|
|
rs759517115 CA2097821 |
417 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299677561 CA350499615 |
418 | P>S | No |
ClinGen gnomAD |
|
|
rs1365865162 CA350499621 |
419 | D>A | No |
ClinGen gnomAD |
|
|
rs963204764 CA65592223 |
419 | D>N | No |
ClinGen TOPMed |
|
|
CA2097823 rs185854595 |
420 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350499632 rs1263420450 |
421 | P>A | No |
ClinGen gnomAD |
|
|
CA65592249 rs991853074 |
422 | E>G | No |
ClinGen TOPMed gnomAD |
|
| VAR_036026 | 432 | L>V | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs200635428 CA2097829 |
434 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1331894227 CA350499851 |
437 | M>I | No |
ClinGen TOPMed |
|
|
rs1457333215 CA350499858 |
438 | P>S | No |
ClinGen gnomAD |
|
|
rs1370549286 CA350499884 |
440 | Q>* | No |
ClinGen gnomAD |
|
|
rs1158142533 CA350499933 |
443 | G>A | No |
ClinGen gnomAD |
|
|
CA2097831 rs772817540 |
443 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2097833 rs766711844 |
445 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA65595842 rs138215699 |
447 | A>T | No |
ClinGen ESP |
|
|
rs370689030 CA2097854 |
448 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370689030 CA2097855 |
448 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs538075671 CA2097856 |
450 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1016237 rs147043913 CA2097858 |
453 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200566186 CA2097865 |
458 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350500080 rs1431465042 |
463 | G>E | No |
ClinGen gnomAD |
|
|
CA65595915 rs767891287 |
464 | K>R | No |
ClinGen Ensembl |
|
|
CA350500092 rs1178301097 |
465 | T>I | No |
ClinGen gnomAD |
|
|
CA2097866 rs746486288 |
466 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1378323707 CA350500095 |
466 | I>V | No |
ClinGen gnomAD |
|
|
CA2097872 rs149599324 |
471 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770049590 CA2097870 |
471 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350500136 rs1559126517 |
472 | A>V | No |
ClinGen Ensembl |
|
|
CA350500156 rs1574456777 |
475 | Y>S | No |
ClinGen Ensembl |
|
|
rs375111736 CA2097875 |
476 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs538573004 CA2097877 |
477 | K>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2097878 rs538573004 |
477 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2097880 rs764951616 |
478 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2097879 rs200945637 |
478 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752426954 CA350500177 |
479 | W>G | No |
ClinGen ExAC |
|
|
CA2097881 rs752426954 |
479 | W>R | No |
ClinGen ExAC |
|
|
rs1574456808 CA350500198 |
482 | L>P | No |
ClinGen Ensembl |
|
|
rs1574456821 CA350500203 |
483 | V>G | No |
ClinGen Ensembl |
|
|
rs756729918 CA2097886 |
483 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574456828 CA350500210 |
484 | V>G | No |
ClinGen Ensembl |
|
|
rs1574456841 CA350500216 |
485 | V>G | No |
ClinGen Ensembl |
|
|
CA350500228 rs1187780569 |
487 | S>F | No |
ClinGen gnomAD |
|
|
CA2097888 rs745494010 |
489 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2097890 rs371394232 |
490 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA350500240 rs371394232 |
490 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2097892 rs769334427 |
491 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1177650084 CA350500266 |
494 | E>K | No |
ClinGen TOPMed |
|
|
rs748302237 CA2097894 |
495 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302790588 CA350500313 |
499 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1694058443 RCV001255431 |
500 | W>* | No |
ClinVar dbSNP |
|
|
RCV000599252 rs1553526733 CA658796173 |
500 | W>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs755386504 CA2097911 |
502 | P>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 502 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350500353 rs759854973 |
505 | S>R | No |
ClinGen gnomAD |
|
|
CA350500355 rs1455207168 |
506 | P>A | No |
ClinGen TOPMed |
|
|
rs1236871359 CA350500365 |
507 | D>G | No |
ClinGen gnomAD |
|
|
CA350500362 rs1216333550 |
507 | D>Y | No |
ClinGen gnomAD |
|
|
CA350500378 rs1183360384 |
509 | I>V | No |
ClinGen gnomAD |
|
|
rs772559717 CA2097914 |
510 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2097916 rs747066701 |
511 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2097919 rs35087810 |
512 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350500421 rs1357950985 |
516 | K>R | No |
ClinGen gnomAD |
|
|
rs774075396 CA350500435 |
518 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774075396 CA2097922 |
518 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 519 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 520 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767438482 CA2097923 |
521 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295964802 CA350500480 |
526 | I>V | No |
ClinGen TOPMed |
|
|
rs1574458759 CA350500487 |
527 | V>F | No |
ClinGen Ensembl |
|
|
CA2097926 rs760200244 |
527 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 532 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs968239393 CA65598408 |
532 | L>V | No |
ClinGen gnomAD |
|
|
rs1033523276 CA65598414 |
533 | S>R | No |
ClinGen TOPMed |
|
|
rs766200869 CA2097927 |
534 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA65598436 rs978339577 |
535 | L>V | No |
ClinGen Ensembl |
|
|
CA2097928 rs753524784 |
536 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2097929 rs571627974 |
538 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1320735965 CA350500565 |
538 | Q>H | No |
ClinGen TOPMed |
|
|
rs199941134 CA2097930 |
538 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1179487623 CA350500567 |
539 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 541 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 542 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs959350799 CA65598476 |
542 | P>R | No |
ClinGen TOPMed |
|
|
rs1171459497 CA350500609 |
545 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 545 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778324813 CA2097933 |
546 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1387796277 CA350500619 |
547 | I>T | No |
ClinGen TOPMed |
|
|
rs747101829 CA2097934 |
547 | I>V | No |
ClinGen ExAC |
|
|
rs119473036 CA350500624 |
548 | I>T | No |
ClinGen TOPMed |
|
|
CA65600664 rs1028784193 |
551 | S>C | No |
ClinGen Ensembl |
|
|
CA65600673 rs866600715 |
553 | F>I | No |
ClinGen gnomAD |
|
|
CA350501277 rs1364341252 |
558 | R>S | No |
ClinGen gnomAD |
|
|
CA65600675 rs866725060 |
560 | A>D | No |
ClinGen Ensembl |
|
|
CA350501294 rs1299538509 |
560 | A>S | No |
ClinGen gnomAD |
|
|
CA65600676 rs865906391 |
561 | R>C | No |
ClinGen gnomAD |
|
|
CA2097962 rs760664233 |
561 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs770947829 CA2097963 |
563 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213751405 CA350501355 |
565 | A>V | No |
ClinGen gnomAD |
|
|
rs776299636 CA65600706 |
566 | M>L | No |
ClinGen ExAC TOPMed |
|
|
CA2097965 rs540415038 |
566 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2097964 rs776299636 |
566 | M>V | No |
ClinGen ExAC TOPMed |
|
|
rs775206136 CA2097967 |
567 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2097966 rs765026783 |
567 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1288316905 CA350501374 |
568 | V>I | No |
ClinGen gnomAD |
|
|
rs1199493662 CA350501389 |
569 | L>P | No |
ClinGen TOPMed |
|
|
rs762132251 CA2097990 |
571 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA350501603 rs1258287069 |
573 | K>R | No |
ClinGen gnomAD |
|
|
rs750915311 CA2097992 |
576 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1445488994 CA350501633 |
578 | L>S | No |
ClinGen TOPMed |
|
|
CA65606130 rs914843328 |
581 | T>S | No |
ClinGen Ensembl |
|
|
CA2097996 rs755247940 |
582 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350501655 rs755247940 |
582 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196613837 CA350501659 |
583 | A>T | No |
ClinGen gnomAD |
|
|
CA65606158 rs1004975176 |
584 | M>T | No |
ClinGen TOPMed |
|
|
rs1574465627 CA350501676 |
585 | S>F | No |
ClinGen Ensembl |
|
|
CA350501673 rs1574465620 |
585 | S>T | No |
ClinGen Ensembl |
|
|
CA350501680 rs766857853 |
586 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2097998 rs766857853 |
586 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350501689 rs769553029 |
588 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350501692 rs1267086696 |
588 | A>V | No |
ClinGen TOPMed |
|
|
CA350501703 rs1574465672 |
590 | L>I | No |
ClinGen Ensembl |
|
|
rs1389304791 CA350501731 |
594 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs376199515 CA2098005 COSM1016238 |
598 | K>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA350501765 rs1295845492 |
600 | T>A | No |
ClinGen gnomAD |
|
|
CA65606231 rs996241533 |
601 | F>S | No |
ClinGen TOPMed |
|
|
CA2098006 rs772439671 |
603 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2098007 rs773495646 |
604 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA350501800 rs1265120100 |
605 | F>V | No |
ClinGen gnomAD |
|
|
rs1388366803 CA350501808 |
606 | H>Y | No |
ClinGen TOPMed |
|
|
CA2098008 rs370772350 |
607 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs542310918 CA2098009 |
609 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753996369 COSM4128132 CA2098010 |
611 | R>H | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA350501855 rs1187912884 |
613 | C>Y | No |
ClinGen gnomAD |
|
|
CA350501865 rs759506518 |
614 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA65606260 rs199805996 |
617 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765565692 CA2098012 COSM1241760 |
617 | R>W | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2098037 rs754876891 |
618 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA2098038 rs778421852 |
619 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs909012139 CA350501913 |
620 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA350501910 rs1294139623 |
620 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA350501914 rs909012139 CA65608290 |
620 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA350501912 rs1294139623 |
620 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs771757909 CA2098040 |
621 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA350501915 rs1226675532 |
621 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1330853690 CA350501925 |
622 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs747476972 CA2098042 |
622 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA2098044 rs144394359 |
623 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2098043 rs771188204 |
623 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs372383320 CA2098045 |
624 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150715355 CA2098046 |
625 | S>* | No |
ClinGen ESP ExAC TOPMed |
|
|
rs145129704 CA65608323 |
632 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2098047 rs775734773 |
632 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2098049 rs764452445 |
636 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs949070606 CA65608340 |
637 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766092174 CA2098052 |
641 | V>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 641 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2098051 rs762035806 |
641 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs140515579 CA2098053 |
644 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1281345070 CA350502062 |
645 | R>H | No |
ClinGen gnomAD |
|
|
CA350502073 rs1224206892 |
647 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 647 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2066526 CA2098058 |
649 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2098056 VAR_021378 rs2066523 |
649 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA350502096 rs1202079793 |
651 | L>F | No |
ClinGen gnomAD |
|
|
CA350502097 rs1202079793 |
651 | L>V | No |
ClinGen gnomAD |
|
|
rs1001322109 CA65608407 |
652 | S>C | No |
ClinGen Ensembl |
|
|
rs1234057744 CA350502131 |
656 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1470200761 CA350502136 |
657 | K>R | No |
ClinGen gnomAD |
|
|
CA2098060 rs373240140 |
658 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2098062 rs568131335 |
659 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs568131335 CA2098063 |
659 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 665 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364283646 CA350502187 |
665 | A>V | No |
ClinGen TOPMed |
|
|
rs376035215 CA2098067 |
666 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350502201 rs759292582 |
668 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759292582 CA2098070 |
668 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1368664167 CA350502217 |
671 | A>P | No |
ClinGen gnomAD |
|
|
rs569024342 CA65608467 |
672 | R>K | No |
ClinGen 1000Genomes gnomAD |
|
|
CA350502227 rs1303862591 |
672 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 672 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1175679788 CA350502229 |
673 | T>A | No |
ClinGen TOPMed |
|
|
CA2098073 rs758277096 |
673 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1274712031 CA350502235 |
674 | R>K | No |
ClinGen gnomAD |
|
|
CA2098074 rs763521259 |
675 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1343845553 CA350502246 |
676 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs780876904 CA2098077 |
678 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA350502256 rs145685056 |
678 | D>N | No |
ClinGen ESP TOPMed |
|
|
rs145685056 CA65608486 |
678 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs1194866303 CA350502268 |
680 | A>T | No |
ClinGen gnomAD |
|
|
rs182225676 CA2098078 |
683 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350502307 rs1474650067 |
685 | T>I | No |
ClinGen gnomAD |
|
|
rs1451683277 CA350502333 |
689 | K>E | No |
ClinGen TOPMed |
|
|
CA350502339 rs1169822610 |
689 | K>N | No |
ClinGen gnomAD |
|
|
CA350502573 rs1201877472 |
691 | K>T | No |
ClinGen TOPMed |
|
|
rs761355502 CA2098095 |
692 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1296233688 CA350502624 |
694 | Q>R | No |
ClinGen TOPMed |
|
|
rs544097283 CA2098096 |
697 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1326865663 CA350502692 |
700 | L>P | No |
ClinGen gnomAD |
|
|
CA350502725 rs1446757240 |
703 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2098097 rs750088786 |
704 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs200644381 CA350502748 |
705 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 706 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs915972439 CA65613829 |
711 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 712 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350503086 rs1453767603 |
715 | E>D | No |
ClinGen gnomAD |
|
|
CA2098133 rs758768369 |
716 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 718 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350503116 rs1434893237 |
719 | D>E | No |
ClinGen gnomAD |
|
|
CA350503114 rs1396721085 |
719 | D>V | No |
ClinGen gnomAD |
|
|
rs1574479262 CA350503130 |
722 | E>A | No |
ClinGen Ensembl |
|
|
rs1393646065 CA350503151 |
725 | R>K | No |
ClinGen gnomAD |
|
|
CA2098135 rs751912300 |
727 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA2098136 rs369163180 |
729 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781361483 CA2098137 |
730 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA350503185 rs781361483 |
730 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1330822326 CA350503202 |
732 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs879173600 CA65615439 |
734 | H>N | No |
ClinGen Ensembl |
|
|
CA10605525 RCV000329770 rs886043438 |
734 | H>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA350503224 rs1349062801 |
735 | K>N | No |
ClinGen gnomAD |
|
|
CA350503242 rs1203430997 |
738 | L>P | No |
ClinGen TOPMed |
|
|
CA2098140 rs773960849 |
740 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249862879 CA350503251 |
740 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA65615453 rs773960849 |
740 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2098141 rs748147271 |
741 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2098144 rs2271336 |
742 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2098143 rs2271336 |
742 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1276207252 CA350503263 |
742 | T>S | No |
ClinGen gnomAD |
|
|
rs1255684489 CA350503265 |
743 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 746 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350503289 rs1298353160 |
746 | E>A | No |
ClinGen Ensembl |
|
|
rs369634860 CA350503304 |
748 | K>T | No |
ClinGen ESP ExAC gnomAD |
|
| rs775975242 | 749 | H>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2098167 rs763200185 |
750 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs984867047 CA65618351 |
751 | Q>R | No |
ClinGen Ensembl |
|
|
rs147417446 CA65618357 |
752 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753533155 CA2098169 |
754 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA350503922 rs1416434930 |
755 | I>S | No |
ClinGen gnomAD |
|
|
rs545627649 CA2098171 |
756 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA350503932 rs1395827043 |
757 | G>S | No |
ClinGen gnomAD |
|
|
CA65618376 rs972728406 |
759 | T>A | No |
ClinGen Ensembl |
|
|
rs750418839 CA2098172 |
763 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA350503974 rs1480919035 |
764 | R>G | No |
ClinGen gnomAD |
|
|
CA65618384 rs1006690042 |
770 | Q>E | No |
ClinGen TOPMed |
|
|
rs1353593663 CA350504048 |
770 | Q>R | No |
ClinGen gnomAD |
|
|
CA2098173 rs780104716 |
771 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA350504105 rs149425324 |
774 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2098178 rs770954000 |
778 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs746945317 CA2098177 |
778 | A>S | No |
ClinGen ExAC |
|
|
CA350504175 rs1168943194 |
780 | A>T | No |
ClinGen gnomAD |
|
|
CA2098180 rs745349150 |
781 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350504217 rs1559138423 |
783 | S>C | No |
ClinGen Ensembl |
|
|
CA350504234 rs1574484219 |
785 | T>P | No |
ClinGen Ensembl |
|
|
rs1157562893 CA350504254 |
786 | A>D | No |
ClinGen gnomAD |
|
|
rs763369356 CA2098183 |
786 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1480568232 CA350504278 |
788 | N>S | No |
ClinGen TOPMed |
|
|
rs769024580 CA2098184 |
789 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1373838590 CA350504340 |
792 | T>I | No |
ClinGen gnomAD |
|
|
CA350504330 rs1312707667 |
792 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs774633377 CA2098185 |
794 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1293966405 CA350504373 |
795 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1275932268 CA350504403 |
798 | L>V | No |
ClinGen gnomAD |
|
|
CA350504418 rs1574484280 |
799 | V>G | No |
ClinGen Ensembl |
|
|
CA350504412 rs1223074564 |
799 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350504410 rs1223074564 |
799 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1574484287 CA350504426 |
800 | V>G | No |
ClinGen Ensembl |
|
|
CA350504420 rs1285866356 |
800 | V>M | No |
ClinGen TOPMed |
|
|
rs1318453249 CA350504446 |
802 | A>T | No |
ClinGen gnomAD |
|
|
CA65618458 rs945901573 |
803 | E>A | No |
ClinGen Ensembl |
|
|
CA2098191 rs766681838 |
808 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 812 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350504706 rs1574485300 |
816 | D>A | No |
ClinGen Ensembl |
|
|
rs1057524681 CA16604060 RCV000431974 |
816 | D>E | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA350504710 rs794727171 |
817 | R>C | No |
ClinGen gnomAD |
|
|
CA240735 rs794727171 RCV000175071 |
817 | R>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA2098211 rs759861726 |
818 | V>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1405386 rs759861726 CA350504715 |
818 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1468097951 CA350504722 |
819 | H>Y | No |
ClinGen TOPMed |
|
|
CA350504730 rs1368456366 |
820 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA350504742 rs1275268911 |
822 | G>R | No |
ClinGen gnomAD |
|
|
rs146849562 CA2098214 |
827 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA65619393 rs867245202 |
828 | G>D | No |
ClinGen Ensembl |
|
|
rs1213567551 CA350504794 |
830 | H>P | No |
ClinGen gnomAD |
|
|
CA350504798 rs1271850407 |
830 | H>Q | No |
ClinGen gnomAD |
|
|
rs767552826 CA2098215 |
832 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2098219 rs140697817 |
833 | V>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756015461 CA2098218 |
833 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188511100 CA350504816 |
834 | A>P | No |
ClinGen gnomAD |
|
|
CA350504815 rs1188511100 |
834 | A>T | No |
ClinGen gnomAD |
|
|
CA350504832 rs1162943474 |
836 | G>D | No |
ClinGen gnomAD |
|
|
rs1461009150 CA350504829 |
836 | G>S | No |
ClinGen gnomAD |
|
|
CA2098221 rs185075482 |
841 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350504877 rs1323958612 |
843 | W>G | No |
ClinGen gnomAD |
|
|
CA2098241 rs778019669 |
844 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA2098245 rs746003613 |
847 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2098246 rs775648760 |
849 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA350504933 rs1363133458 |
850 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 850 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762831069 CA65620096 |
850 | I>T | No |
ClinGen Ensembl |
|
|
rs143378530 CA2098247 |
852 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350504955 rs1185915421 |
853 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 855 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768875923 CA2098248 |
856 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs760511139 CA2098250 |
857 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310728559 CA350504988 |
859 | S>P | No |
ClinGen gnomAD |
|
|
rs1285298844 CA350504999 |
860 | E>D | No |
ClinGen TOPMed |
|
|
CA2098252 rs184390693 |
862 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA2098253 rs759400963 |
863 | F>L | No |
ClinGen ExAC gnomAD |
|
| rs1559139196 | 864 | S>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA65620125 rs987751602 |
866 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs764757912 CA2098254 |
866 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1310381221 CA350505060 |
869 | S>Y | No |
ClinGen gnomAD |
|
|
rs372951765 CA65620137 |
872 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA65620153 rs935553158 |
873 | L>F | No |
ClinGen TOPMed |
|
|
rs935553158 CA350505085 |
873 | L>V | No |
ClinGen TOPMed |
|
|
CA2098256 rs758034594 |
875 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs752187073 CA2098276 |
882 | I>V | No |
ClinGen ExAC |
|
|
rs763712548 CA2098279 |
884 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 885 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781717033 CA2098281 |
885 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1466750049 CA350505182 |
885 | L>V | No |
ClinGen gnomAD |
|
|
CA2098282 rs750771359 |
886 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA350505212 rs1188805239 |
889 | S>C | No |
ClinGen TOPMed |
|
|
rs780700069 CA2098284 |
890 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749383910 CA2098285 COSM3838558 |
891 | E>D | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs768790059 CA2098286 |
892 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1181907169 CA350505270 |
897 | M>I | No |
ClinGen TOPMed |
|
|
CA65622899 rs140370927 |
897 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs962399655 CA65622895 |
897 | M>V | No |
ClinGen TOPMed |
|
|
rs972374690 CA65622913 |
898 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1276262986 CA350505280 |
899 | L>V | No |
ClinGen TOPMed |
|
|
CA2098289 rs572658323 |
900 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2098290 rs772233742 |
901 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 907 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769791427 CA2098293 |
908 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs762741200 CA2098295 |
914 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350792975 CA350505383 |
915 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 915 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350505387 rs1287531302 |
916 | G>A | No |
ClinGen gnomAD |
|
|
rs773697223 CA2098297 |
916 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA350505393 rs1362689031 |
917 | S>N | No |
ClinGen gnomAD |
|
|
rs761583424 CA2098298 |
919 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1312292199 CA350505426 |
921 | N>K | No |
ClinGen gnomAD |
|
|
rs756530485 CA2098301 |
923 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2098303 rs754370341 |
929 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1216899726 CA350505482 |
930 | S>P | No |
ClinGen gnomAD |
|
|
CA2098305 rs779070872 |
933 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA65623103 rs375276319 |
937 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 939 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777965487 CA2098308 |
940 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2098309 rs745722245 |
940 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1163886519 CA350505590 |
945 | D>G | No |
ClinGen TOPMed |
|
|
rs769591373 CA2098312 |
948 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2098313 rs775081733 |
949 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA65623143 rs751084968 |
951 | T>M | No |
ClinGen gnomAD |
|
|
CA2098316 rs773963217 |
952 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs761378834 CA2098317 |
953 | P>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9NZC9
No regional properties for Q9NZC9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NZC9 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| nuclear replication fork | The Y-shaped region of a nuclear replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| site of double-strand break | A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP-dependent chromatin remodeler activity | An activity, driven by ATP hydrolysis, that modulates the contacts between histones and DNA, resulting in a change in chromosome architecture within the nucleosomal array, leading to chromatin remodeling. |
| ATP-dependent DNA/DNA annealing activity | An ATP-dependent activity that facilitates the formation of a complementary double-stranded DNA molecule. |
| helicase activity | Catalysis of the reaction: ATP + H2O = ADP + phosphate, to drive the unwinding of a DNA or RNA helix. |
| hydrolase activity | Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| double-strand break repair via nonhomologous end joining | The repair of a double-strand break in DNA in which the two broken ends are rejoined with little or no sequence complementarity. Information at the DNA ends may be lost due to the modification of broken DNA ends. This term covers instances of separate pathways, called classical (or canonical) and alternative nonhomologous end joining (C-NHEJ and A-NHEJ). These in turn may further branch into sub-pathways, but evidence is still unclear. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| replication fork processing | The process in which a DNA replication fork that has stalled is restored to a functional state and replication is restarted. The stalling may be due to DNA damage, DNA secondary structure, bound proteins, dNTP shortage, or other causes. |
| replication fork protection | Any process that prevents the collapse of stalled replication forks. |
| t-circle formation | A telomere maintenance process that results in the formation of a telomeric circle, or t-circle. A t-circle is an extrachromosomal duplex or single-stranded circular DNA molecule composed of t-arrays. T-circles are involved in the control of telomere length via alternative-lengthening of telomeres (ALT) pathway and telomere rapid deletion (TRD). |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9TTA5 | SMARCAL1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 | Bos taurus (Bovine) | PR |
| Q5FWF4 | ZRANB3 | DNA annealing helicase and endonuclease ZRANB3 | Homo sapiens (Human) | PR |
| Q8BJL0 | Smarcal1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 | Mus musculus (Mouse) | PR |
| B4F769 | Smarcal1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 | Rattus norvegicus (Rat) | PR |
| Q8MNV7 | smrc-1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 homolog | Caenorhabditis elegans | PR |
| B2ZFP3 | smarcal1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSLPLTEEQR | KKIEENRQKA | LARRAEKLLA | EQHQRTSSGT | SIAGNPFQAK | QGPSQNFPRE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SCKPVSHGVI | FKQQNLSSSS | NADQRPHDSH | SFQAKGIWKK | PEEMPTACPG | HSPRSQMALT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GISPPLAQSP | PEVPKQQLLS | YELGQGHAQA | SPEIRFTPFA | NPTHKPLAKP | KSSQETPAHS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SGQPPRDAKL | EAKTAKASPS | GQNISYIHSS | SESVTPRTEG | RLQQKSGSSV | QKGVNSQKGK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CVRNGDRFQV | LIGYNAELIA | VFKTLPSKNY | DPDTKTWNFS | MNDYSALMKA | AQSLPTVNLQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PLEWAYGSSE | SPSTSSEGQA | GLPSAPSLSF | VKGRCMLISR | AYFEADISYS | QDLIALFKQM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DSRRYDVKTR | KWSFLLEEHS | KLIAKVRCLP | QVQLDPLPTT | LTLAFASQLK | KTSLSLTPDV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PEADLSEVDP | KLVSNLMPFQ | RAGVNFAIAK | GGRLLLADDM | GLGKTIQAIC | IAAFYRKEWP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LLVVVPSSVR | FTWEQAFLRW | LPSLSPDCIN | VVVTGKDRLT | AGLINIVSFD | LLSKLEKQLK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TPFKVVIIDE | SHFLKNSRTA | RCRAAMPVLK | VAKRVILLSG | TPAMSRPAEL | YTQIIAVKPT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FFPQFHAFGL | RYCDAKRMPW | GWDYSGSSNL | GELKLLLEEA | VMLRRLKSDV | LSQLPAKQRK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IVVIAPGRIN | ARTRAALDAA | AKEMTTKDKT | KQQQKDALIL | FFNRTAEAKI | PSVIEYILDL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LESGREKFLV | FAHHKVVLDA | ITQELERKHV | QHIRIDGSTS | SAEREDLCQQ | FQLSERHAVA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VLSITAANMG | LTFSSADLVV | FAELFWNPGV | LIQAEDRVHR | IGQTSSVGIH | YLVAKGTADD |
| 850 | 860 | 870 | 880 | 890 | 900 |
| YLWPLIQEKI | KVLAEAGLSE | TNFSEMTEST | DYLYKDPKQQ | KIYDLFQKSF | EKEGSDMELL |
| 910 | 920 | 930 | 940 | 950 | |
| EAAESFDPGS | ASGTSGSSSQ | NMGDTLDESS | LTASPQKKRR | FEFFDNWDSF | TSPL |