P19447
PR
Gene name |
ERCC3 (XPB, XPBC) |
Protein name |
General transcription and DNA repair factor IIH helicase subunit XPB |
Names |
Gamma-glutamyltransferase 1, Gamma-glutamyltranspeptidase 1, GGT 1, Leukotriene-C4 hydrolase, TFIIH subunit XPB, Basic transcription factor 2 89 kDa subunit, BTF2 p89, DNA excision repair protein ERCC-3, DNA repair protein complementing XP-B cells, TFIIH basal transcription factor complex 89 kDa subunit, TFIIH 89 kDa subunit, TFIIH p89, Xeroderma pigmentosum group B-complementing protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2071 |
EC number |
3.6.4.12: Acting on ATP; involved in cellular and subcellular movement |
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
44 structures for P19447
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4ERN | X-ray | 180 A | A | 494-782 | PDB |
| 5IVW | EM | 1000 A | V | 1-782 | PDB |
| 5IY6 | EM | 720 A | V | 1-782 | PDB |
| 5IY7 | EM | 860 A | V | 1-782 | PDB |
| 5IY8 | EM | 790 A | V | 1-782 | PDB |
| 5IY9 | EM | 630 A | V | 1-782 | PDB |
| 5OF4 | EM | 440 A | A | 265-782 | PDB |
| 6NMI | EM | 370 A | A | 34-730 | PDB |
| 6O9L | EM | 720 A | 7 | 1-782 | PDB |
| 6O9M | EM | 440 A | 7 | 1-782 | PDB |
| 6RO4 | EM | 350 A | A | 1-782 | PDB |
| 7AD8 | EM | 350 A | A | 1-782 | PDB |
| 7EGB | EM | 330 A | 6 | 1-782 | PDB |
| 7EGC | EM | 390 A | 6 | 1-782 | PDB |
| 7ENA | EM | 407 A | 6 | 1-782 | PDB |
| 7ENC | EM | 413 A | 6 | 1-782 | PDB |
| 7LBM | EM | 480 A | W | 1-782 | PDB |
| 7NVR | EM | 450 A | 7 | 1-782 | PDB |
| 7NVV | EM | 290 A | 7 | 1-782 | PDB |
| 7NVW | EM | 430 A | 7 | 1-782 | PDB |
| 7NVX | EM | 390 A | 7 | 1-782 | PDB |
| 7NVY | EM | 730 A | 7 | 1-782 | PDB |
| 7NVZ | EM | 720 A | 7 | 1-782 | PDB |
| 7NW0 | EM | 660 A | 7 | 1-782 | PDB |
| 8BVW | EM | 400 A | 0 | 1-772 | PDB |
| 8BYQ | EM | 410 A | 0 | 1-782 | PDB |
| 8EBS | EM | 400 A | A | 1-782 | PDB |
| 8EBT | EM | 390 A | A | 52-721 | PDB |
| 8EBU | EM | 330 A | A | 1-782 | PDB |
| 8EBV | EM | 710 A | A | 1-782 | PDB |
| 8EBW | EM | 560 A | A | 1-782 | PDB |
| 8EBX | EM | 360 A | A | 1-782 | PDB |
| 8EBY | EM | 360 A | A | 1-782 | PDB |
| 8GXQ | EM | 504 A | HH | 1-782 | PDB |
| 8GXS | EM | 416 A | HH | 1-782 | PDB |
| 8WAK | EM | 547 A | 6 | 1-782 | PDB |
| 8WAL | EM | 852 A | 6 | 1-782 | PDB |
| 8WAN | EM | 607 A | 6 | 1-782 | PDB |
| 8WAO | EM | 640 A | 6 | 1-782 | PDB |
| 8WAP | EM | 585 A | 6 | 1-782 | PDB |
| 8WAQ | EM | 629 A | 6 | 1-782 | PDB |
| 8WAR | EM | 720 A | 6 | 1-782 | PDB |
| 8WAS | EM | 613 A | 6 | 1-782 | PDB |
| AF-P19447-F1 | Predicted | AlphaFoldDB |
620 variants for P19447
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002505598 RCV001051064 rs199934696 CA1858638 |
11 | K>R | Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002556852 RCV002558280 rs771345526 CA1858615 RCV001133123 |
44 | K>R | Xeroderma pigmentosum group B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002491401 RCV002258141 rs149309991 RCV001873529 CA1858611 RCV001133122 |
48 | E>D | Xeroderma pigmentosum Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001850776 RCV000287017 rs767507847 CA1858579 |
85 | F>C | Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_003632 CA257543 RCV000018051 rs121913045 |
99 | F>S | Xeroderma pigmentosum group B XP-B; combined with features of Cockayne syndrome; mild [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs116713511 RCV001308354 RCV002258139 RCV001132192 CA1858570 |
105 | E>G | Xeroderma pigmentosum Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002487171 CA090899 RCV000986812 rs34295337 RCV000255849 RCV001175535 |
109 | R>* | Xeroderma pigmentosum Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA126690 RCV000018052 VAR_008186 rs121913046 |
119 | T>P | Trichothiodystrophy 2, photosensitive TTD2; mild [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002523084 CA1858562 RCV001294155 rs370115857 RCV000345555 RCV001859963 |
120 | A>V | Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum group B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002256209 RCV000290626 CA1858557 RCV002521284 rs145762413 RCV001859962 RCV001828326 |
129 | V>I | Xeroderma pigmentosum Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum group B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000986811 CA348391475 RCV001858655 rs1404293670 |
154 | Q>* | Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA1858513 COSM1399212 rs139690693 RCV001132191 RCV002556844 |
177 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine Xeroderma pigmentosum group B [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000770819 CA1858507 rs138385061 RCV002536615 |
195 | R>* | Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000778562 rs1558962530 |
266 | Q>missing | Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000018054 RCV002513093 rs866379139 |
269 | S>* | Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinVar dbSNP |
|
CA248735 RCV002257425 RCV001129472 RCV001362006 RCV001294157 RCV000120800 rs145201970 RCV000765502 |
283 | R>C | Trichothiodystrophy 2, photosensitive Xeroderma pigmentosum Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001129471 RCV001856686 rs370519739 CA1858360 |
359 | K>R | Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1858359 COSM280850 RCV000373572 rs754010782 RCV001372395 |
360 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine Xeroderma pigmentosum group B [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000358594 CA1858341 rs374264195 |
386 | D>N | Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA257545 RCV002513092 rs121913047 RCV000018053 RCV001851900 |
425 | R>* | Xeroderma pigmentosum group B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1573957226 RCV000991968 CA348389589 RCV001766807 |
431 | K>Q | Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001136452 CA1858272 rs371627165 RCV001301220 |
471 | V>I | Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002255296 RCV000018055 RCV000120802 RCV002477310 rs587778281 RCV000482017 |
474 | D>missing | Xeroderma pigmentosum Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000018056 CA257548 rs121913048 |
545 | Q>* | Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001766813 rs1474396878 RCV000997198 CA348388340 |
567 | A>V | Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000779279 RCV001856170 rs774261851 |
586 | Q>missing | Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001090271 RCV002482161 rs770925947 |
588 | E>missing | Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000779278 rs1558952235 |
630 | G>missing | Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1404157087 CA348387004 RCV000986806 |
645 | R>* | Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002258798 rs568193912 RCV000120790 RCV001462857 CA158821 |
654 | E>K | Xeroderma pigmentosum [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA158824 rs587778275 RCV001788035 RCV000120791 RCV002515857 RCV001854617 COSM1325944 |
666 | D>N | ovary Variant assessed as Somatic; 0.0 impact. Trichothiodystrophy 2, photosensitive Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA1858091 RCV001133016 rs151216904 |
694 | A>S | Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs151216904 RCV001366056 RCV002256208 CA1858090 RCV000404854 COSM94239 |
694 | A>T | ovary Xeroderma pigmentosum Xeroderma pigmentosum group B [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201806429 RCV002258140 RCV001873528 CA1858086 RCV001133015 |
696 | M>R | Xeroderma pigmentosum Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000339981 rs563550613 CA1858082 RCV001338905 |
702 | A>V | Xeroderma pigmentosum [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000861013 RCV000120792 RCV000986805 VAR_017294 RCV002257424 rs4150521 CA158827 |
704 | S>L | Xeroderma pigmentosum Xeroderma pigmentosum group B [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001132080 rs368664230 CA1858033 RCV001856706 |
742 | R>W | Variant assessed as Somatic; 0.0 impact. Xeroderma pigmentosum group B [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1684056933 RCV002543833 RCV001321907 |
762 | H>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs866954274 CA55344414 |
2 | G>D | No |
ClinGen Ensembl |
|
|
rs1028560626 CA55344388 |
3 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1394007429 CA348392480 |
4 | R>S | No |
ClinGen TOPMed |
|
|
CA1858702 rs542029381 |
6 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA55344367 rs893323064 |
6 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs893323064 CA348392469 |
6 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1461005787 CA348392462 |
7 | A>V | No |
ClinGen gnomAD |
|
|
rs756810937 CA1858701 |
8 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA348392454 rs1319949323 |
9 | R>S | No |
ClinGen gnomAD |
|
|
CA348392446 rs1438418977 |
10 | D>N | No |
ClinGen gnomAD |
|
|
rs199934696 RCV001051065 |
11 | K>M | No |
ClinVar dbSNP |
|
|
CA1858637 rs746412466 |
11 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1032532070 CA55343771 |
12 | K>R | No |
ClinGen Ensembl |
|
|
rs1454594744 CA348392402 |
15 | R>W | No |
ClinGen gnomAD |
|
|
rs779316093 CA348392388 |
17 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858635 rs771417265 |
17 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs749337980 CA1858634 |
18 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs756471066 CA1858632 |
22 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1858630 rs531561069 |
24 | D>E | No |
ClinGen 1000Genomes ExAC |
|
|
rs1313189867 CA348392333 |
24 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1858631 rs752952963 |
24 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348392334 rs1313189867 |
24 | D>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 27 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144596821 CA55343711 |
27 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs144596821 CA1858628 |
27 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs562762727 CA55343684 |
29 | A>V | No |
ClinGen 1000Genomes |
|
|
CA1858625 rs751320999 |
30 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348392293 rs1371919188 |
30 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 30 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA55343666 rs907355401 |
33 | D>E | No |
ClinGen TOPMed |
|
|
rs1373227745 CA348392257 |
35 | Q>H | No |
ClinGen gnomAD |
|
|
CA348392261 rs1250589018 |
35 | Q>K | No |
ClinGen TOPMed |
|
|
CA1858623 rs773797861 |
37 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348392243 rs1435070019 |
37 | A>V | No |
ClinGen gnomAD |
|
|
rs897871697 CA55343634 |
39 | P>H | No |
ClinGen Ensembl |
|
|
CA348392226 rs1251238422 |
40 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA348392220 rs1239018301 |
41 | A>V | No |
ClinGen TOPMed |
|
|
CA1858618 rs759837409 |
42 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776237342 CA1858619 |
42 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1858617 rs759837409 |
42 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749797540 CA1858614 |
45 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054769172 CA55343586 |
46 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA348392193 rs1054769172 |
46 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777771292 CA1858613 |
47 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 47 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1858612 rs769971648 |
48 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA55343559 rs759337466 |
50 | G>D | No |
ClinGen Ensembl |
|
|
CA348392166 rs1353065985 |
51 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1858610 rs781589410 |
53 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 55 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA158839 rs587778277 RCV000120796 |
58 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1858608 rs577213973 |
58 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758329360 CA1858606 |
61 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1412591056 CA348392089 |
62 | R>K | No |
ClinGen gnomAD |
|
|
rs764770312 CA1858604 |
63 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1439555872 CA348392058 |
66 | P>L | No |
ClinGen TOPMed |
|
|
rs1279830695 CA348392029 |
70 | D>E | No |
ClinGen gnomAD |
|
|
rs377255867 CA348392027 |
71 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 71 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258618385 CA348392025 |
71 | H>R | No |
ClinGen gnomAD |
|
|
rs377255867 CA1858602 |
71 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348392020 rs1558965389 |
72 | T>A | No |
ClinGen Ensembl |
|
|
rs763746043 CA348392017 |
72 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763746043 CA1858601 |
72 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858598 rs553774995 |
75 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1858599 rs774644406 |
75 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs201635630 CA1858597 |
77 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1341880081 CA348391982 |
78 | V>G | No |
ClinGen gnomAD |
|
|
rs1244964997 CA348391984 |
78 | V>L | No |
ClinGen gnomAD |
|
|
CA348391964 rs1391088981 |
79 | A>V | No |
ClinGen gnomAD |
|
|
CA55342976 rs1046333193 |
81 | D>E | No |
ClinGen Ensembl |
|
|
CA348391955 rs1453017999 |
81 | D>N | No |
ClinGen gnomAD |
|
|
rs1246605943 CA348391945 |
82 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs532415974 CA348391939 |
83 | H>P | No |
ClinGen 1000Genomes TOPMed |
|
|
CA55342958 rs532415974 |
83 | H>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1013443416 CA55342953 |
84 | I>S | No |
ClinGen Ensembl |
|
|
rs1200235000 CA348391928 |
85 | F>L | No |
ClinGen gnomAD |
|
|
rs773655670 CA1858578 |
87 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1858576 rs762406830 |
88 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA55342947 rs1004141219 |
89 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1275332128 CA348391892 |
90 | S>C | No |
ClinGen gnomAD |
|
|
rs1438551749 CA348391889 |
91 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs776911903 CA1858574 |
91 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA348391888 rs1438551749 |
91 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs768763299 CA348391878 |
93 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768763299 CA1858573 |
93 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371373080 CA348391867 |
94 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 94 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348391804 rs1311592942 |
103 | I>T | No |
ClinGen TOPMed |
|
|
CA158842 rs587778278 RCV000120797 |
103 | I>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA348391801 rs1479291031 |
104 | A>T | No |
ClinGen gnomAD |
|
|
rs201698871 CA348391790 |
105 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1858568 rs757248927 |
108 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs755616510 CA348391765 |
109 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858566 rs755616510 |
109 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348437205 CA348391757 |
111 | T>A | No |
ClinGen gnomAD |
|
|
rs1287985700 CA348391748 |
112 | H>R | No |
ClinGen TOPMed |
|
|
CA348391750 rs1363688604 |
112 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 113 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348391735 rs1278935659 |
114 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA348391734 rs1278935659 |
114 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1858564 rs767213626 |
115 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1858563 rs754522317 |
116 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA55342861 rs762430357 |
117 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA158845 VAR_014766 RCV001854620 rs1805161 RCV000120798 |
117 | K>R | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs775162343 CA55342849 |
118 | L>V | No |
ClinGen Ensembl |
|
|
rs1358876899 CA348391702 |
119 | T>N | No |
ClinGen gnomAD |
|
|
COSM3836746 rs1406400169 CA348391662 |
125 | A>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA55342811 rs560809471 |
126 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs560809471 CA1858560 |
126 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1472612465 CA348391657 |
127 | V>I | No |
ClinGen gnomAD |
|
|
CA348391640 rs1315300796 |
129 | V>A | No |
ClinGen TOPMed |
|
|
rs145762413 CA348391643 |
129 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348391638 rs1237762253 |
130 | G>R | No |
ClinGen gnomAD |
|
|
rs1211945316 CA348391633 |
130 | G>V | No |
ClinGen gnomAD |
|
|
CA1858556 rs772341214 |
134 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1858555 rs759746188 |
137 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs773390535 CA1858552 |
138 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1209294822 CA348391569 |
140 | L>F | No |
ClinGen TOPMed |
|
|
rs749261203 CA1858550 |
141 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA348391563 rs1231600544 |
141 | R>T | No |
ClinGen gnomAD |
|
|
CA348391536 rs1378698993 |
145 | K>E | No |
ClinGen gnomAD |
|
|
rs1285060522 CA348391531 |
145 | K>N | No |
ClinGen gnomAD |
|
|
rs149781954 CA1858549 |
146 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769561472 CA1858548 |
150 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA348391502 rs1343838938 |
150 | D>G | No |
ClinGen gnomAD |
|
|
rs1390119570 CA348391489 |
152 | I>T | No |
ClinGen gnomAD |
|
|
rs1458243351 CA348391492 |
152 | I>V | No |
ClinGen gnomAD |
|
|
CA348391483 rs1162168898 |
153 | M>R | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348391477 rs1404293670 |
154 | Q>K | No |
ClinGen gnomAD |
|
|
rs376722014 CA1858547 |
154 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348391461 rs1237725504 |
156 | I>V | No |
ClinGen TOPMed |
|
|
rs1207322794 CA348391428 |
158 | L>F | No |
ClinGen TOPMed |
|
|
CA348391412 rs1251030097 |
161 | V>L | No |
ClinGen gnomAD |
|
|
rs376925542 CA1858533 |
163 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1858532 rs772817885 |
167 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858531 rs769839328 |
168 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858530 rs775263112 |
173 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA348391325 rs1220765207 |
174 | R>G | No |
ClinGen TOPMed |
|
|
CA348391321 rs1271441790 |
174 | R>K | No |
ClinGen TOPMed |
|
|
rs1360806711 CA348391302 |
175 | Y>C | No |
ClinGen gnomAD |
|
|
rs114994654 CA348391291 |
176 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 180 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348391250 rs1409899714 |
182 | P>R | No |
ClinGen TOPMed |
|
|
CA348391246 rs1478932651 |
183 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs140572401 CA1858512 |
184 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183082780 CA348391221 |
186 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1858510 rs768670201 |
189 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs144491407 CA1858508 |
193 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 194 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751847283 CA55340638 |
194 | I>V | No |
ClinGen Ensembl |
|
|
rs138385061 CA1858506 |
195 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348391167 rs1467693328 |
195 | R>Q | No |
ClinGen gnomAD |
|
|
rs748503195 CA1858502 |
198 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1858500 rs755418225 |
201 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs755418225 CA1858501 |
201 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 202 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396363819 CA348391118 |
202 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 202 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 203 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1858499 rs751705179 |
204 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs13427563 CA348391097 |
205 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1318391186 CA348391099 |
205 | E>V | No |
ClinGen gnomAD |
|
|
CA1858496 rs368953792 |
207 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1858495 rs765463072 |
208 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA1858494 rs761537841 |
210 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA1858493 rs776433788 |
210 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348391062 rs1558962928 |
211 | T>I | No |
ClinGen Ensembl |
|
|
rs760681360 CA1858491 |
213 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464840646 CA348391037 |
215 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1337069381 CA348391031 |
216 | S>N | No |
ClinGen gnomAD |
|
|
rs374275821 CA1858488 |
219 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1858463 rs377665046 |
220 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1306451467 CA348390995 |
220 | I>V | No |
ClinGen gnomAD |
|
|
CA348390986 rs1167535533 |
221 | S>F | No |
ClinGen gnomAD |
|
|
rs1558962721 CA348390985 |
222 | K>Q | No |
ClinGen Ensembl |
|
|
rs780564758 CA1858462 |
223 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858461 rs772575791 |
225 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 226 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs587778279 CA55340084 |
228 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587778279 CA158848 RCV000120799 |
228 | G>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1156498564 CA348390928 |
230 | P>L | No |
ClinGen TOPMed |
|
|
rs201383161 CA1858460 |
232 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858459 rs757474477 |
232 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA55340065 rs980899348 |
234 | R>* | No |
ClinGen TOPMed |
|
|
CA348390909 rs1249110579 |
234 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 235 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754087195 CA1858458 |
240 | G>D | No |
ClinGen ExAC |
|
|
CA1858457 rs777749462 |
241 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237231600 CA348390856 |
242 | S>F | No |
ClinGen TOPMed |
|
|
rs1191447900 CA348390860 |
242 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA348390851 rs1344200585 |
243 | D>G | No |
ClinGen gnomAD |
|
|
CA348390853 rs1198587049 |
243 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA348390847 rs1453742922 |
244 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs752490818 CA1858455 |
245 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs779588545 CA55340028 |
246 | M>K | No |
ClinGen Ensembl |
|
|
CA55340039 rs760816658 |
246 | M>V | No |
ClinGen Ensembl |
|
|
CA348390828 rs1573960935 |
247 | D>N | No |
ClinGen Ensembl |
|
|
rs1558962604 CA348390820 |
248 | L>M | No |
ClinGen Ensembl |
|
|
rs759450760 CA1858453 |
251 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858452 rs751088488 |
252 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858451 rs765891376 |
253 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA55339940 rs755764533 |
254 | Q>* | No |
ClinGen gnomAD |
|
|
rs1413165197 CA348390775 |
254 | Q>R | No |
ClinGen gnomAD |
|
|
rs1402080984 CA348390770 |
255 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA55339933 rs1038911769 |
256 | D>E | No |
ClinGen TOPMed |
|
|
CA1858450 rs762635900 |
257 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs772883177 CA1858449 |
259 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1472688612 CA348390687 |
265 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs769390355 CA1858444 |
267 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs201622885 CA1858442 |
269 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 271 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207731792 CA348390636 |
273 | K>R | No |
ClinGen gnomAD |
|
|
CA1858440 rs746369215 |
274 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs568770952 CA1858422 |
275 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs930132955 CA55339317 |
276 | M>I | No |
ClinGen TOPMed |
|
|
CA1858421 rs200443230 |
276 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858420 rs749390618 |
283 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs773357279 CA1858419 COSM1399209 |
285 | I>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1380889199 CA348390515 |
289 | Y>N | No |
ClinGen gnomAD |
|
|
CA348390505 rs1413335378 |
290 | P>S | No |
ClinGen TOPMed |
|
|
rs142304812 CA1858417 |
293 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1858416 rs142304812 |
293 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754834163 CA1858415 |
294 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1858412 rs758268800 CA55339237 |
297 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1858413 rs145267069 |
297 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1858410 rs764717311 |
298 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858409 rs369840433 |
298 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764717311 CA1858411 |
298 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340526199 CA348390454 |
299 | N>D | No |
ClinGen gnomAD |
|
|
CA1858408 rs753495508 |
301 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1363370930 CA348390417 |
304 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 305 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348390405 rs1291272894 |
306 | I>V | No |
ClinGen gnomAD |
|
|
CA348390396 rs1435188738 |
307 | N>T | No |
ClinGen gnomAD |
|
|
CA1858403 rs779781754 |
310 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1277701138 CA348390360 |
312 | P>L | No |
ClinGen gnomAD |
|
|
rs763549081 CA1858401 |
312 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1423048236 CA348390324 |
318 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1423048236 CA348390325 |
318 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1858399 rs769963575 |
318 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348390318 rs1189528251 |
319 | Y>F | No |
ClinGen gnomAD |
|
|
CA348390320 rs1189528251 |
319 | Y>S | No |
ClinGen gnomAD |
|
|
rs267598859 CA55339117 |
321 | E>G | No |
ClinGen Ensembl |
|
|
CA55339111 rs911067838 |
322 | K>R | No |
ClinGen Ensembl |
|
|
rs748138133 CA1858398 |
323 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs776936481 CA1858397 |
323 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1858396 rs368191279 |
325 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1858395 COSM441077 rs746827111 |
325 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA348390276 rs1205729889 |
326 | K>E | No |
ClinGen gnomAD |
|
|
CA348390270 rs779822517 |
326 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1858393 rs772058327 |
327 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA348390267 rs772058327 |
327 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1218086016 CA348390242 |
330 | N>S | No |
ClinGen gnomAD |
|
|
rs745564603 CA55339057 |
331 | G>R | No |
ClinGen TOPMed |
|
|
CA1858390 rs756787161 |
332 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308398082 CA348390219 |
334 | R>C | No |
ClinGen gnomAD |
|
|
rs1463378560 CA348390218 |
334 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1858389 rs142333442 |
335 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1558961958 CA348390191 |
339 | V>I | No |
ClinGen Ensembl |
|
|
rs1430093547 CA348390174 |
341 | P>L | No |
ClinGen gnomAD |
|
|
CA348390167 rs752026166 |
342 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138897577 CA348390164 |
343 | G>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA55339028 rs138897577 |
343 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1319634891 CA348390143 |
344 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1384863160 CA348390127 |
347 | S>P | No |
ClinGen gnomAD |
|
|
rs1318493097 CA348390114 |
349 | V>A | No |
ClinGen gnomAD |
|
|
rs538080445 CA1858367 |
350 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1858366 rs374654628 |
350 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780953436 CA1858364 |
353 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1558960995 CA348390090 |
354 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 355 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348390075 rs1188002375 |
356 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1858361 rs765846010 |
356 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs764062606 CA1858358 |
360 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775716891 CA348390044 |
361 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858356 rs775716891 |
361 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775716891 CA1858357 |
361 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573957723 CA348390031 |
363 | V>G | No |
ClinGen Ensembl |
|
|
CA1858355 rs772229792 |
365 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1858354 rs375440546 |
366 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1433368312 CA348390016 |
366 | N>I | No |
ClinGen TOPMed |
|
|
rs984881713 CA55337270 |
366 | N>K | No |
ClinGen gnomAD |
|
|
CA348389989 CA1858352 rs371109024 |
371 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778865255 CA1858349 |
373 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348389968 rs1327020283 |
374 | W>R | No |
ClinGen gnomAD |
|
|
CA1858347 rs747613438 COSM3713995 |
376 | A>D | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1384044411 CA348389952 |
376 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs747613438 CA1858348 |
376 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1858346 rs781006740 |
377 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs754612702 CA1858345 |
379 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA348389922 rs1367864923 |
380 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA348389916 rs1167192463 |
381 | W>R | No |
ClinGen gnomAD |
|
|
rs1573957604 CA348389907 |
382 | S>P | No |
ClinGen Ensembl |
|
|
CA1858344 rs746303452 |
383 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1261030668 CA348389898 |
383 | T>I | No |
ClinGen TOPMed |
|
|
CA348389902 rs746303452 |
383 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1024820965 CA55337210 |
384 | I>F | No |
ClinGen TOPMed |
|
|
rs1573957583 CA348389895 |
384 | I>N | No |
ClinGen Ensembl |
|
| TCGA novel | 384 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348389888 rs1573957566 |
385 | D>A | No |
ClinGen Ensembl |
|
|
rs371396764 CA348389884 |
385 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA348389881 rs1573957547 |
386 | D>A | No |
ClinGen Ensembl |
|
|
CA1858340 rs147653814 |
387 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1402884340 CA348389874 |
387 | S>N | No |
ClinGen TOPMed |
|
|
CA348389868 rs1055129064 |
388 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA55337199 rs1055129064 |
388 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs370645943 CA55337196 |
388 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs756167411 CA1858339 |
389 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA55337191 rs1031196303 |
390 | C>S | No |
ClinGen Ensembl |
|
|
rs201840181 CA55337177 |
391 | R>Q | No |
ClinGen Ensembl |
|
|
rs1428334772 CA348389849 |
391 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA348389838 rs1573957485 |
393 | T>P | No |
ClinGen Ensembl |
|
|
rs775603873 CA55337144 |
395 | D>H | No |
ClinGen Ensembl |
|
|
CA1858337 rs767729262 |
396 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA348389810 rs1329439780 |
397 | K>R | No |
ClinGen gnomAD |
|
|
rs1282822015 CA348389798 |
399 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 400 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278381138 CA348389788 |
400 | P>S | No |
ClinGen TOPMed |
|
|
rs115176021 CA1858336 |
401 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_014767 rs1805162 CA1858334 |
402 | G>C | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs1805162 CA1858333 |
402 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA55337118 rs773046382 |
403 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs373790042 CA1858330 |
405 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776274926 CA1858329 |
406 | A>G | No |
ClinGen ExAC |
|
|
rs1199596535 CA348389732 |
409 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 410 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1858328 rs768478601 |
412 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858327 rs746634537 |
413 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs757589281 CA1858325 |
416 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs974407309 CA55337084 |
416 | T>I | No |
ClinGen TOPMed |
|
|
rs1198677656 CA348389685 |
417 | T>A | No |
ClinGen gnomAD |
|
|
CA1858324 rs749619361 |
417 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348389684 rs1198677656 |
417 | T>S | No |
ClinGen gnomAD |
|
| VAR_035942 | 418 | K>Q | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 419 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1224268565 CA348389647 |
422 | E>G | No |
ClinGen gnomAD |
|
|
rs200098409 CA1858322 |
424 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1858321 rs767573920 |
425 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA348389615 rs1175864176 |
427 | M>I | No |
ClinGen TOPMed |
|
|
CA348389596 rs1394793027 |
429 | W>* | No |
ClinGen gnomAD |
|
|
rs1394793027 CA348389597 |
429 | W>C | No |
ClinGen gnomAD |
|
|
rs1406068183 CA348389592 |
430 | L>H | No |
ClinGen gnomAD |
|
|
CA1858319 rs751701780 |
431 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558960659 CA348389577 |
432 | T>I | No |
ClinGen Ensembl |
|
|
rs766583866 CA1858318 |
433 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1434876636 CA348389568 |
434 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1858317 rs762669491 |
435 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352250300 CA348389539 |
438 | M>L | No |
ClinGen TOPMed |
|
|
rs1234401096 CA348389537 |
438 | M>T | No |
ClinGen gnomAD |
|
|
CA348389530 rs1188694467 |
439 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1858315 rs772991846 |
439 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348389531 rs1188694467 |
439 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs947992601 CA55337002 |
440 | L>P | No |
ClinGen Ensembl |
|
|
CA1858314 rs765152621 |
441 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs750263561 CA348389498 |
444 | H>P | No |
ClinGen TOPMed |
|
|
CA55336991 rs750263561 |
444 | H>R | No |
ClinGen TOPMed |
|
|
rs587778280 CA1858312 |
445 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000120801 CA158851 rs587778280 RCV001854621 |
445 | T>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs776211616 CA1858310 |
446 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs115481013 CA1858283 |
449 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1573950396 CA348389448 |
450 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 450 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1858282 rs200291162 |
450 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 451 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150954655 CA1858281 COSM1006173 |
452 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs748473025 CA1858280 |
453 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769083884 CA55332020 |
457 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165306956 CA348389408 |
457 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs747124421 CA1858277 |
458 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348389388 rs1413024779 |
460 | A>S | No |
ClinGen TOPMed |
|
|
rs1413024779 CA348389390 |
460 | A>T | No |
ClinGen TOPMed |
|
|
CA1858276 rs780167598 |
461 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs758594852 CA348389376 |
462 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs758594852 CA1858275 |
462 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 462 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432845835 CA348389361 |
464 | L>V | No |
ClinGen TOPMed |
|
|
CA1858274 rs144012336 |
468 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1225262521 CA348389299 |
472 | R>C | No |
ClinGen gnomAD |
|
|
rs753633161 CA1858271 |
472 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1214609147 CA348389288 |
473 | E>D | No |
ClinGen gnomAD |
|
|
CA348389294 rs1369244363 |
473 | E>K | No |
ClinGen TOPMed |
|
|
CA55331967 rs554880985 |
474 | D>N | No |
ClinGen 1000Genomes |
|
|
rs1363487714 CA348389256 |
478 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 482 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371767613 CA1858268 |
484 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759152503 CA1858266 |
486 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348389187 rs1304706419 |
488 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs367552856 CA1858265 |
490 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1858264 rs765968359 |
492 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs762169009 CA1858263 |
494 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA348389142 rs1410547028 |
494 | M>L | No |
ClinGen gnomAD |
|
|
rs917709294 CA55331912 |
495 | E>Q | No |
ClinGen gnomAD |
|
|
CA55331892 rs558704941 |
498 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373703862 CA1858261 |
498 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1858257 rs772222570 |
501 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348389093 rs1251200118 |
501 | Y>C | No |
ClinGen gnomAD |
|
|
rs775470553 CA1858259 |
501 | Y>H | No |
ClinGen ExAC |
|
|
rs1309847812 CA348389085 |
502 | I>N | No |
ClinGen gnomAD |
|
|
CA1858256 rs745884071 |
503 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539089848 CA1858254 |
506 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1233276309 CA348389034 |
508 | A>T | No |
ClinGen TOPMed |
|
|
CA348388907 rs1451873165 |
510 | V>F | No |
ClinGen gnomAD |
|
|
rs1359756987 CA348388843 |
514 | M>I | No |
ClinGen TOPMed |
|
|
rs755970243 CA1858231 RCV001325521 |
514 | M>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs974005418 CA55331012 |
515 | S>P | No |
ClinGen Ensembl |
|
|
CA1858230 rs747849600 |
516 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA348388826 rs747849600 |
516 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1399204 CA1858229 rs781202683 |
517 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA348388781 rs1558956850 |
519 | Y>S | No |
ClinGen Ensembl |
|
|
rs148789293 CA1858228 |
520 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1034515602 CA55330986 |
520 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs148789293 CA1858227 |
520 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs970240024 CA55330985 |
525 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA348388663 rs377662408 |
528 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1858225 rs377662408 |
528 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA348388639 rs1302552127 COSM218645 RCV000997199 |
530 | R>* | pancreas [Cosmic] | No |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs753534899 CA55330948 |
541 | F>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 543 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752934885 CA1858221 |
543 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1001657401 CA55330941 |
544 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA348388504 rs1001657401 |
544 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs774624418 CA1858219 |
546 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA348388488 rs1421835809 |
546 | F>L | No |
ClinGen gnomAD |
|
|
CA1858218 rs771107095 |
548 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348388448 rs1295875856 |
552 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs768051277 CA55330892 |
553 | R>K | No |
ClinGen Ensembl |
|
|
rs1163407906 CA348388421 |
556 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA348388411 rs1445759342 |
557 | K>R | No |
ClinGen gnomAD |
|
|
CA348388400 rs773507392 |
559 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs773507392 CA1858216 |
559 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs747979985 CA1858214 |
567 | A>S | No |
ClinGen ExAC |
|
|
rs545926053 CA55330851 |
568 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780835549 CA1858213 |
573 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs768687646 CA1858212 |
574 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 574 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1858211 rs373218532 |
574 | R>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
CA348388288 rs1361480597 |
576 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1333192307 CA348387917 |
578 | P>L | No |
ClinGen gnomAD |
|
|
CA348387922 rs1405887613 |
578 | P>S | No |
ClinGen gnomAD |
|
|
rs745446062 CA1858188 |
579 | Y>C | No |
ClinGen ExAC |
|
|
CA348387896 rs147061557 |
581 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778277009 CA1858187 |
581 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 581 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348387893 rs1172169844 COSM203491 |
582 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA1858184 rs758238796 |
584 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751916656 CA1858182 |
585 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA348387864 rs1558953128 |
587 | G>R | No |
ClinGen Ensembl |
|
| rs770925947 | 588 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348387842 rs1239997092 |
590 | M>L | No |
ClinGen gnomAD |
|
|
rs1200552239 CA348387832 |
591 | Q>* | No |
ClinGen gnomAD |
|
|
rs1460059364 CA348387828 |
591 | Q>H | No |
ClinGen gnomAD |
|
|
rs1272649511 CA348387811 |
594 | Q>* | No |
ClinGen TOPMed |
|
|
CA1858178 rs766998168 |
594 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA55325419 rs778751078 |
603 | N>S | No |
ClinGen gnomAD |
|
|
CA55325435 rs778751078 |
603 | N>T | No |
ClinGen gnomAD |
|
|
rs765199734 CA1858175 |
603 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1858174 rs539101457 |
604 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 605 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776739054 CA1858173 |
607 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 608 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449752433 CA348387704 |
609 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA348387705 rs1449752433 |
609 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 612 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373484527 CA1858158 |
613 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1691015 CA1858157 rs139049289 |
614 | S>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA55324336 rs139049289 |
614 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348387323 rs1385827451 |
618 | P>L | No |
ClinGen gnomAD |
|
|
rs1473837762 CA348387314 |
619 | E>V | No |
ClinGen gnomAD |
|
|
rs757293615 CA1858153 |
621 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs753886932 CA1858152 |
629 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1488774317 CA348387168 |
630 | G>S | No |
ClinGen gnomAD |
|
|
CA1858151 rs764362224 |
631 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1393523547 CA348387137 |
632 | S>F | No |
ClinGen TOPMed |
|
|
CA348387124 rs1455728204 |
633 | R>S | No |
ClinGen TOPMed |
|
|
COSM203490 rs1174382080 CA348387118 |
634 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA1858149 rs775316471 |
634 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460478816 CA348387105 |
635 | Q>R | No |
ClinGen TOPMed |
|
|
rs767273632 CA1858148 |
638 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1427747564 CA348387018 |
642 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs759338358 CA55324300 |
642 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1573939436 CA348387012 |
643 | V>G | No |
ClinGen Ensembl |
|
|
rs1342057472 CA348387017 |
643 | V>M | No |
ClinGen gnomAD |
|
|
rs1366074068 CA348387001 |
645 | R>L | No |
ClinGen gnomAD |
|
|
COSM1006171 rs1366074068 CA348387003 |
645 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs752950326 CA1858123 |
650 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs201793642 CA1858122 |
652 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1858121 rs375848554 |
654 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348386350 rs1573928112 |
656 | N>S | No |
ClinGen Ensembl |
|
|
CA1858120 rs766294536 |
657 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1858119 rs368498162 |
659 | F>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1858118 rs772887980 |
660 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1558947043 CA348386314 |
661 | S>L | No |
ClinGen Ensembl |
|
|
rs1353903104 CA348386293 |
665 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA348386294 rs1353903104 |
665 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1426001505 CA348386277 |
667 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA55372398 rs375990467 |
673 | S>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1858114 rs768284835 |
674 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348386215 rs1333056804 |
676 | R>Q | No |
ClinGen TOPMed |
|
|
rs922942314 CA55372397 RCV001305476 |
676 | R>W | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA348386179 rs1193349659 |
681 | V>A | No |
ClinGen gnomAD |
|
|
CA348386176 rs1232856265 |
682 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA348386177 rs1232856265 |
682 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs746280448 CA1858112 |
684 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA348386125 rs1332898410 |
688 | K>N | No |
ClinGen TOPMed |
|
|
CA348385810 rs1573925976 |
689 | V>G | No |
ClinGen Ensembl |
|
|
CA348385813 rs776272932 |
689 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858095 rs776272932 |
689 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858094 rs768246711 |
691 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774621930 CA1858092 |
693 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858087 rs201806429 |
696 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1858088 rs770220564 |
696 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs747285412 CA1858084 |
697 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1858085 rs374262917 |
697 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348385762 rs1331558572 |
698 | E>K | No |
ClinGen TOPMed |
|
|
CA1858083 rs780088602 |
700 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA55370651 rs1023249904 |
703 | F>L | No |
ClinGen TOPMed |
|
|
rs767223129 CA55370657 |
703 | F>S | No |
ClinGen Ensembl |
|
|
CA1858077 rs760066564 |
706 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1858078 rs760066564 |
706 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775232626 CA1858076 |
707 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775232626 CA55370614 |
707 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858074 rs558588910 |
710 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1858073 rs763315862 |
711 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs748634294 CA1858070 |
714 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA1858069 rs377323636 |
715 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747001718 CA1858067 |
716 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573925783 CA348385632 |
717 | L>R | No |
ClinGen Ensembl |
|
|
CA348385625 rs1263512849 |
719 | A>T | No |
ClinGen gnomAD |
|
|
CA1858066 rs780327353 |
720 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA55370536 rs867602958 |
724 | A>V | No |
ClinGen Ensembl |
|
|
CA348385588 rs1192130599 |
725 | E>K | No |
ClinGen gnomAD |
|
|
CA348385572 rs1454673438 |
727 | E>K | No |
ClinGen gnomAD |
|
|
CA55370502 rs944132286 |
727 | E>V | No |
ClinGen TOPMed |
|
|
CA348385561 rs1573925710 |
728 | V>G | No |
ClinGen Ensembl |
|
|
CA158830 RCV000120793 rs143140054 |
728 | V>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA348385558 rs1400016690 |
729 | V>A | No |
ClinGen TOPMed |
|
|
rs763891077 CA1858062 |
729 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858061 rs763891077 |
729 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752084851 CA1858059 |
731 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA348385541 rs1573925656 |
732 | E>G | No |
ClinGen Ensembl |
|
|
rs1323378956 CA348385527 |
734 | G>S | No |
ClinGen gnomAD |
|
|
rs1435459493 CA348385524 |
734 | G>V | No |
ClinGen TOPMed |
|
|
VAR_014344 CA1858057 RCV000940515 rs4150522 |
735 | S>P | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
RCV000120794 rs587778276 RCV001854618 CA158833 |
736 | R>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs587778276 CA348385516 |
736 | R>T | No |
ClinGen gnomAD |
|
|
rs773618141 CA1858056 |
737 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773618141 CA55370407 |
737 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348385496 rs1350655187 |
739 | Q>R | No |
ClinGen TOPMed |
|
|
CA348385478 rs1171070703 |
740 | A>S | No |
ClinGen TOPMed |
|
|
rs772307115 CA1858032 |
742 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1858030 rs774730824 |
743 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770995913 CA1858029 |
743 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1858027 rs140023882 |
747 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA55368992 rs140023882 |
747 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369468852 CA1858025 |
750 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858024 rs566082692 |
750 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369468852 CA1858026 |
750 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858021 rs779748578 |
754 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115312738 CA1858019 |
755 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348385373 rs1210108802 |
757 | V>E | No |
ClinGen TOPMed |
|
|
rs764330927 CA1858018 |
759 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141971239 CA1858016 |
760 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761057040 CA1858017 |
760 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1190997884 CA348385344 |
761 | Y>C | No |
ClinGen TOPMed |
|
|
CA1858015 rs189511674 |
764 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs771245959 CA1858012 |
765 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1858013 rs774571443 |
765 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372094432 CA1858010 |
768 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372094432 CA158836 RCV000120795 RCV001854619 |
768 | A>V | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
rs769509766 CA1858009 |
769 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158741248 CA348385228 |
771 | K>R | No |
ClinGen TOPMed |
|
|
CA348385207 rs1558944942 |
772 | H>Q | No |
ClinGen Ensembl |
|
|
CA348385211 rs1243050277 |
772 | H>R | No |
ClinGen gnomAD |
|
|
rs114613120 CA1858008 |
775 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348385175 rs1387571112 |
775 | P>S | No |
ClinGen TOPMed |
|
|
rs766592763 CA1858005 |
779 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146427260 CA1858004 |
779 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200411611 CA55368815 |
781 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1573923864 CA348385097 |
781 | R>K | No |
ClinGen Ensembl |
2 associated diseases with P19447
[MIM: 610651]: Xeroderma pigmentosum complementation group B (XP-B)
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-B patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. {ECO:0000269|PubMed:10447254, ECO:0000269|PubMed:16947863, ECO:0000269|PubMed:8304337}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 616390]: Trichothiodystrophy 2, photosensitive (TTD2)
A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. {ECO:0000269|PubMed:9012405}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-B patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. {ECO:0000269|PubMed:10447254, ECO:0000269|PubMed:16947863, ECO:0000269|PubMed:8304337}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. {ECO:0000269|PubMed:9012405}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for P19447
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Helicase, C-terminal | 542 - 702 | IPR001650 |
| domain | Helicase/UvrB, N-terminal | 315 - 470 | IPR006935 |
| domain | Helicase superfamily 1/2, ATP-binding domain | 312 - 492 | IPR014001 |
| domain | ERCC3/RAD25/XPB helicase, C-terminal domain | 496 - 738 | IPR032438 |
| domain | Helicase XPB/Ssl2, N-terminal domain | 76 - 201 | IPR032830 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.12 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleotide-excision repair factor 3 complex | One of several protein complexes involved in nucleotide-excision repair; possesses endodeoxynuclease and DNA helicase activities. In S. cerevisiae, it is composed of Rad2p and the core TFIIH-Ssl2p complex (core TFIIH is composed of Rad3p, Tfb1p, Tfb2p, Ssl1p, Tfb4p and Tfb5p. Note that Ssl2p is also called Rad25p). |
| 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. |
| transcription factor TFIID complex | A complex composed of TATA binding protein (TBP) and TBP associated factors (TAFs); the total mass is typically about 800 kDa. Most of the TAFs are conserved across species. In TATA-containing promoters for RNA polymerase II (Pol II), TFIID is believed to recognize at least two distinct elements, the TATA element and a downstream promoter element. TFIID is also involved in recognition of TATA-less Pol II promoters. Binding of TFIID to DNA is necessary but not sufficient for transcription initiation from most RNA polymerase II promoters. |
| transcription factor TFIIH core complex | The 7 subunit core of TFIIH that is a part of either the general transcription factor holo-TFIIH or the nucleotide-excision repair factor 3 complex. In S. cerevisiae/humans the complex is composed of: Ssl2/XPB, Tfb1/p62, Tfb2/p52, Ssl1/p44, Tfb4/p34, Tfb5/p8 and Rad3/XPD. |
| transcription factor TFIIH holo complex | A complex that is capable of kinase activity directed towards the C-terminal Domain (CTD) of the largest subunit of RNA polymerase II and is essential for initiation at RNA polymerase II promoters in vitro. It is composed of the core TFIIH complex and the TFIIK complex. |
| transcription preinitiation complex | A protein-DNA complex composed of proteins binding promoter DNA to form the transcriptional preinitiation complex (PIC), the formation of which is a prerequisite for transcription. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3'-5' DNA helicase activity | Unwinding a DNA helix in the direction 5' to 3', driven by ATP hydrolysis. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| damaged DNA binding | Binding to damaged DNA. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| promoter-specific chromatin binding | Binding to a section of chromatin that is associated with gene promoter sequences of DNA. |
| protein C-terminus binding | Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| protein N-terminus binding | Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
19 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| 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. |
| DNA topological change | The process in which a transformation is induced in the topological structure of a double-stranded DNA helix, resulting in a change in linking number. |
| embryonic organ development | Development, taking place during the embryonic phase, of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. |
| hair cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a hair cell. |
| nucleotide-excision repair | A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts). |
| nucleotide-excision repair, DNA duplex unwinding | The unwinding, or local denaturation, of the DNA duplex to create a bubble around the site of the DNA damage. |
| nucleotide-excision repair, DNA incision | A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
| regulation of mitotic cell cycle phase transition | Any process that modulates the frequency, rate or extent of mitotic cell cycle phase transition. |
| response to hypoxia | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| response to oxidative stress | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| response to UV | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
| transcription elongation by RNA polymerase II promoter | The extension of an RNA molecule after transcription initiation and promoter clearance at an RNA polymerase II promoter by the addition of ribonucleotides catalyzed by RNA polymerase II. |
| transcription initiation at RNA polymerase II promoter | A transcription initiation process that takes place at a RNA polymerase II gene promoter. Messenger RNAs (mRNA) genes, as well as some non-coding RNAs, are transcribed by RNA polymerase II. |
| transcription-coupled nucleotide-excision repair | The nucleotide-excision repair process that carries out preferential repair of DNA lesions on the actively transcribed strand of the DNA duplex. In addition, the transcription-coupled nucleotide-excision repair pathway is required for the recognition and repair of a small subset of lesions that are not recognized by the global genome nucleotide excision repair pathway. |
| UV protection | Any process in which an organism or cell protects itself from ultraviolet radiation (UV), which may also result in resistance to repeated exposure to UV. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q38861 | XPB1 | General transcription and DNA repair factor IIH helicase subunit XPB1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGKRDRADRD | KKKSRKRHYE | DEEDDEEDAP | GNDPQEAVPS | AAGKQVDESG | TKVDEYGAKD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YRLQMPLKDD | HTSRPLWVAP | DGHIFLEAFS | PVYKYAQDFL | VAIAEPVCRP | THVHEYKLTA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YSLYAAVSVG | LQTSDITEYL | RKLSKTGVPD | GIMQFIKLCT | VSYGKVKLVL | KHNRYFVESC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HPDVIQHLLQ | DPVIRECRLR | NSEGEATELI | TETFTSKSAI | SKTAESSGGP | STSRVTDPQG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KSDIPMDLFD | FYEQMDKDEE | EEEETQTVSF | EVKQEMIEEL | QKRCIHLEYP | LLAEYDFRND |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SVNPDINIDL | KPTAVLRPYQ | EKSLRKMFGN | GRARSGVIVL | PCGAGKSLVG | VTAACTVRKR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CLVLGNSAVS | VEQWKAQFKM | WSTIDDSQIC | RFTSDAKDKP | IGCSVAISTY | SMLGHTTKRS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| WEAERVMEWL | KTQEWGLMIL | DEVHTIPAKM | FRRVLTIVQA | HCKLGLTATL | VREDDKIVDL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NFLIGPKLYE | ANWMELQNNG | YIAKVQCAEV | WCPMSPEFYR | EYVAIKTKKR | ILLYTMNPNK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FRACQFLIKF | HERRNDKIIV | FADNVFALKE | YAIRLNKPYI | YGPTSQGERM | QILQNFKHNP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KINTIFISKV | GDTSFDLPEA | NVLIQISSHG | GSRRQEAQRL | GRVLRAKKGM | VAEEYNAFFY |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SLVSQDTQEM | AYSTKRQRFL | VDQGYSFKVI | TKLAGMEEED | LAFSTKEEQQ | QLLQKVLAAT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DLDAEEEVVA | GEFGSRSSQA | SRRFGTMSSM | SGADDTVYME | YHSSRSKAPS | KHVHPLFKRF |
| RK |