Q9UL01
PR
Gene name |
DSE (SART2) |
Protein name |
Dermatan-sulfate epimerase |
Names |
DS epimerase, Chondroitin-glucuronate 5-epimerase, Squamous cell carcinoma antigen recognized by T-cells 2, SART-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:29940 |
EC number |
5.1.3.19: Acting on carbohydrates and derivatives |
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 Q9UL01
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6HZN | X-ray | 241 A | A | 23-775 | PDB |
| AF-Q9UL01-F1 | Predicted | AlphaFoldDB |
658 variants for Q9UL01
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs142885560 RCV001855954 CA3969439 RCV000762432 RCV002533907 |
12 | F>Y | Ehlers-Danlos syndrome, musculocontractural type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000946968 RCV002279197 RCV000426170 rs76186865 CA3969444 |
18 | C>F | Ehlers-Danlos syndrome Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000419462 CA3969451 VAR_034481 rs10485183 RCV001517053 |
25 | T>I | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs140765634 RCV001331800 |
32 | M>K | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001511809 RCV000425605 CA3969458 rs35548455 VAR_053833 |
34 | P>L | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3969463 RCV001298495 rs371802983 |
37 | N>S | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001296374 CA3969470 rs754763310 |
41 | D>N | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs147683614 CA3969488 RCV000600185 RCV000957867 RCV002279441 |
70 | R>H | Ehlers-Danlos syndrome Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1781471216 RCV001319307 |
109 | L>V | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796415 CA365534768 rs1583172956 |
119 | N>H | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs147451395 CA3969503 RCV001331798 RCV001721458 |
120 | I>T | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1781474657 RCV001331799 |
122 | A>T | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001267004 rs1781476734 |
128 | D>* | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000425933 rs1057524129 CA16604969 RCV002522634 |
165 | L>F | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA365392721 rs1554227382 RCV000515451 |
267 | R>G | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs398122361 RCV000074436 VAR_070911 CA145364 |
268 | S>L | Ehlers-Danlos syndrome, musculocontractural type 2 EDSMC2; shows a loss of epimerase activity towards partially desulfated dermatan sulfate; patient-derived fibroblasts show also a significant reduction in activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs34994230 CA3969578 VAR_053834 RCV000441451 RCV002279186 RCV001519356 |
282 | I>V | Ehlers-Danlos syndrome Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000436673 CA3969607 rs371480627 RCV002522675 |
335 | R>H | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000426390 rs41313440 CA3969630 RCV001515479 |
381 | V>A | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3969643 rs767730463 RCV000809603 |
409 | E>K | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA365398661 RCV000624169 rs1554228071 |
424 | G>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003169338 RCV001423842 rs181711422 CA3969659 |
461 | A>T | Ehlers-Danlos syndrome, musculocontractural type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000622470 CA365401341 rs1554228151 |
500 | G>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1562313702 CA365402009 RCV000723332 |
523 | G>E | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002524970 RCV002279300 RCV000512750 CA145886179 rs749683894 |
614 | Y>C | Ehlers-Danlos syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000522074 rs550208733 CA3969726 RCV001490971 |
633 | V>M | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs560644 RCV000526647 |
642 | N>= | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3969739 rs61741781 RCV001664547 RCV002279634 RCV000914958 |
654 | R>Q | Ehlers-Danlos syndrome Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3969742 RCV000651850 rs145999978 RCV001550862 COSM593846 |
669 | I>V | lung Ehlers-Danlos syndrome, musculocontractural type 2 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs140975523 CA3969762 RCV001551278 RCV000956406 |
707 | S>C | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000520971 RCV001853691 CA3969774 rs371043332 |
723 | R>Q | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001331796 rs1784179508 |
739 | A>S | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3969813 RCV002279426 rs199731077 RCV002066553 RCV001698419 |
810 | R>G | Ehlers-Danlos syndrome Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001618732 RCV002279359 rs111252008 RCV000539080 |
874 | G>missing | Ehlers-Danlos syndrome, musculocontractural type 2 Ehlers-Danlos syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057996 rs113277624 CA365408728 |
879 | R>G | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000827035 rs35363262 CA3969852 RCV001078769 |
884 | R>Q | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001331797 rs143226402 CA3969868 |
921 | T>A | Ehlers-Danlos syndrome, musculocontractural type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001853630 rs146336077 RCV000521617 CA3969878 RCV003159671 |
948 | W>R | Ehlers-Danlos syndrome, musculocontractural type 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1367654249 CA365533858 |
2 | R>K | No |
ClinGen TOPMed |
|
|
CA365533867 rs1164317142 |
3 | T>S | No |
ClinGen TOPMed |
|
|
CA3969428 rs757264066 |
4 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA365533870 rs757264066 |
4 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1294023137 CA365533876 |
5 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA365533878 rs1294023137 |
5 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA365533882 rs778735094 |
6 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758271302 CA3969434 |
6 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758271302 CA3969433 |
6 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1204585 CA3969431 rs778735094 |
6 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3969436 rs769988333 |
8 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001172174 rs749737486 CA3969438 |
10 | S>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA365533907 rs1204927658 |
10 | S>R | No |
ClinGen gnomAD |
|
|
rs1184738326 CA365533908 |
11 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA3969440 rs774752825 |
14 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA146391165 rs981920808 |
15 | Y>C | No |
ClinGen TOPMed |
|
|
rs1562282302 CA365533944 |
16 | L>W | No |
ClinGen Ensembl |
|
|
CA3969443 rs775115323 |
18 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA146391166 rs76186865 |
18 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3969445 rs76186865 |
18 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs945930237 CA365533959 |
19 | F>I | No |
ClinGen Ensembl |
|
|
rs991624301 CA146391168 |
19 | F>L | No |
ClinGen TOPMed |
|
|
CA146391167 rs945930237 |
19 | F>L | No |
ClinGen Ensembl |
|
|
CA3969446 rs776155011 |
20 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1430411900 CA365533966 |
20 | V>L | No |
ClinGen gnomAD |
|
|
CA3969447 rs200951460 |
22 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs140339574 CA3969448 |
23 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3969450 rs758254855 |
24 | I>L | No |
ClinGen ExAC |
|
|
CA658796802 RCV000605657 rs1554222279 |
25 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3969454 rs146524076 |
26 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365533999 rs756408252 |
26 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA3969453 rs756408252 |
26 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM3619655 CA365534007 rs1213311228 |
27 | E>K | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs367928011 CA3969455 |
29 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3969456 rs757291403 |
30 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1415085162 CA365534044 CA365534046 |
32 | M>I | No |
ClinGen gnomAD |
|
|
CA3969457 rs140765634 |
32 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs933535774 CA146391169 |
33 | I>V | No |
ClinGen TOPMed |
|
|
rs35548455 CA3969459 |
34 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3969462 rs371802983 |
37 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3969464 rs761328518 |
37 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs763023746 CA3969467 |
39 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs766256179 CA365534089 |
40 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA3969468 rs766256179 |
40 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1217184353 CA365534104 |
42 | S>R | No |
ClinGen TOPMed |
|
|
CA3969471 rs764311973 |
42 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA365534125 rs1350137114 |
45 | M>V | No |
ClinGen gnomAD |
|
|
CA365534158 rs1562282667 |
49 | S>C | No |
ClinGen Ensembl |
|
|
rs1377867178 CA365534172 |
51 | A>V | No |
ClinGen gnomAD |
|
|
CA3969475 rs746347190 |
52 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3969474 rs533374955 |
52 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3969476 COSM1072380 rs148850466 |
54 | A>V | endometrium Variant assessed as Somatic; 4.631e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747303498 CA3969478 |
57 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1192562342 CA365534209 |
57 | Q>H | No |
ClinGen gnomAD |
|
|
CA365534218 rs1397330269 |
59 | R>K | No |
ClinGen gnomAD |
|
|
CA146391171 rs576498950 |
63 | S>L | No |
ClinGen Ensembl |
|
|
CA365534249 rs747821151 |
64 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3969481 rs747821151 |
64 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772898380 CA3969483 |
65 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772898380 CA365534255 |
65 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762575961 CA3969484 |
67 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA365534280 rs1278120330 |
68 | A>V | No |
ClinGen gnomAD |
|
|
rs375337613 CA3969487 |
70 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3969489 rs201564300 |
72 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3969491 rs765462931 |
76 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs765462931 CA365534323 |
76 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA146391173 rs150685110 |
77 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
| TCGA novel | 85 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365534395 rs1328203126 |
86 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 88 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3969496 rs755364363 |
89 | W>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 90 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 91 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 92 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781449748 CA3969497 |
95 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747813819 CA3969498 |
96 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA365534491 rs1327970888 |
97 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs534459729 CA3969499 |
97 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA365534503 rs534459729 |
97 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1327970888 CA365534494 |
97 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365534528 rs1269492643 |
99 | N>S | No |
ClinGen gnomAD |
|
|
rs777600484 CA3969500 |
104 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1239868197 CA365534664 |
110 | A>V | No |
ClinGen TOPMed |
|
|
rs866132678 CA146391175 |
111 | M>V | No |
ClinGen TOPMed |
|
|
CA365534701 rs1273428215 |
113 | C>R | No |
ClinGen gnomAD |
|
|
rs1273428215 CA365534699 |
113 | C>S | No |
ClinGen gnomAD |
|
|
rs1467803225 CA365534708 |
113 | C>S | No |
ClinGen gnomAD |
|
|
rs770579971 CA3969502 |
114 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1194556000 CA365534738 |
116 | Y>F | No |
ClinGen gnomAD |
|
|
CA146391176 rs925885530 |
120 | I>V | No |
ClinGen gnomAD |
|
|
CA3969504 rs759461496 |
123 | R>* | No |
ClinGen ExAC |
|
|
CA365534843 COSM739563 rs1418661316 |
123 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA146391177 rs992860268 |
124 | D>E | No |
ClinGen Ensembl |
|
|
CA3969505 rs771873157 |
125 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA365534871 rs1461179102 |
125 | M>T | No |
ClinGen gnomAD |
|
|
rs1486246312 CA365534867 |
125 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs868402212 CA146391178 |
126 | A>T | No |
ClinGen gnomAD |
|
|
rs1393500978 CA365534909 |
128 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 129 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775202275 CA3969506 |
130 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365534978 rs1324544063 |
133 | M>V | No |
ClinGen gnomAD |
|
|
rs1235051534 CA365534992 |
134 | A>T | No |
ClinGen gnomAD |
|
|
CA3969507 rs370430595 |
135 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139921073 CA146391180 |
136 | Q>* | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 143 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775498800 CA3969523 |
143 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs200163571 CA145879444 COSM1544634 |
145 | P>S | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs746719999 CA3969524 |
148 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485400253 CA365388903 |
150 | P>L | No |
ClinGen gnomAD |
|
|
rs866075089 CA145879487 |
150 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1252746853 CA365388920 |
152 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 157 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365389012 rs1416812439 |
160 | T>S | No |
ClinGen TOPMed |
|
|
CA3969527 rs373922850 |
164 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA145879542 rs895437856 |
166 | Y>H | No |
ClinGen Ensembl |
|
|
rs766422969 CA3969528 |
170 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA365389169 rs1322132031 |
171 | K>R | No |
ClinGen gnomAD |
|
|
rs924835498 CA145879544 |
172 | T>I | No |
ClinGen TOPMed |
|
|
rs1464110006 CA365389201 |
173 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 174 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3969530 rs759693883 |
176 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 179 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365389331 rs1303934610 |
181 | I>T | No |
ClinGen gnomAD |
|
|
rs577476142 CA3969531 |
183 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 184 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1373412992 CA365389395 |
184 | A>V | No |
ClinGen gnomAD |
|
|
CA365389416 rs1463557934 |
186 | G>R | No |
ClinGen Ensembl |
|
|
CA145879562 rs1025167723 |
186 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA365389438 COSM739561 rs1304378291 |
187 | Y>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 188 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs971273259 CA145879588 |
189 | Y>C | No |
ClinGen TOPMed |
|
|
CA3969532 rs753262692 |
189 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA365389492 rs1219823566 |
190 | E>A | No |
ClinGen TOPMed |
|
|
CA365389529 rs1347873669 |
193 | Y>C | No |
ClinGen gnomAD |
|
|
CA3969535 rs753512700 |
194 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA365389559 rs1302554578 |
196 | G>E | No |
ClinGen TOPMed |
|
|
CA145879593 rs867989337 |
198 | G>E | No |
ClinGen Ensembl |
|
|
CA3969538 rs745305642 |
209 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3969539 rs757935372 |
210 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA3969540 rs368400476 |
211 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA365389847 rs1172419215 |
212 | A>T | No |
ClinGen gnomAD |
|
|
rs747013266 CA3969541 |
213 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 214 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3969542 rs112379267 |
215 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs989140636 CA145879655 |
216 | G>V | No |
ClinGen gnomAD |
|
|
rs1367313018 CA365390027 |
221 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs747959711 CA3969544 |
221 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA365390060 rs1177679887 |
223 | Q>E | No |
ClinGen TOPMed |
|
|
rs1562308752 CA365391224 |
224 | G>E | No |
ClinGen Ensembl |
|
|
CA145882545 rs780168871 |
225 | Y>C | No |
ClinGen gnomAD |
|
|
CA3969560 rs781139031 |
230 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1217613362 CA365391598 |
232 | W>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA145882586 rs1057361300 |
235 | Q>E | No |
ClinGen Ensembl |
|
|
CA365391907 rs1562308912 |
239 | I>S | No |
ClinGen Ensembl |
|
|
CA365391886 rs1391797779 |
239 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs888081089 CA145882606 |
240 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 244 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326191968 CA365392073 |
244 | L>R | No |
ClinGen gnomAD |
|
|
rs746170827 CA3969564 |
245 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs746170827 CA3969565 |
245 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3969566 rs775765333 |
248 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 249 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3969567 rs760863337 |
251 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365392296 rs760863337 |
251 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365392333 rs1411104561 |
252 | D>V | No |
ClinGen gnomAD |
|
|
CA365392379 rs1403959063 |
253 | G>V | No |
ClinGen gnomAD |
|
|
CA365392450 rs1161817257 |
256 | Y>F | No |
ClinGen gnomAD |
|
|
CA3969569 rs777287596 |
257 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1399982336 CA365392497 |
258 | G>A | No |
ClinGen gnomAD |
|
|
CA3969570 rs762067261 |
260 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1583227993 CA365392639 |
263 | S>R | No |
ClinGen Ensembl |
|
|
rs1415426823 CA365392674 |
265 | T>A | No |
ClinGen gnomAD |
|
|
CA365392690 rs1283836708 |
266 | T>S | No |
ClinGen gnomAD |
|
|
rs750010592 CA3969573 |
269 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3969572 rs750010592 |
269 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs751004584 CA3969575 |
273 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200570747 CA145882693 |
274 | F>L | No |
ClinGen 1000Genomes |
|
|
rs1583228098 CA365393003 |
275 | L>F | No |
ClinGen Ensembl |
|
|
CA3969576 rs754514077 |
276 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271391398 CA365393232 |
281 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs781057586 CA3969577 |
281 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3969582 rs772275865 |
288 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746061603 CA145882723 |
288 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746061603 CA3969581 |
288 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA365393486 rs1562309249 |
290 | L>F | No |
ClinGen Ensembl |
|
|
CA3969584 rs747041114 |
291 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1009230970 CA145882735 |
292 | Q>L | No |
ClinGen Ensembl |
|
|
CA365393636 rs1583228265 |
295 | A>T | No |
ClinGen Ensembl |
|
|
rs768909519 CA3969585 |
297 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA365393688 rs1358374915 |
297 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs777249157 CA3969586 |
298 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3969601 rs763948207 |
306 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3969602 rs753598767 |
307 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365394593 rs1257040258 |
309 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 311 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456223406 CA365394631 |
311 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA145884166 rs80212147 |
312 | A>S | No |
ClinGen Ensembl |
|
|
rs1255326703 CA365394699 |
312 | A>V | No |
ClinGen gnomAD |
|
|
CA365394854 rs1198801557 |
317 | N>H | No |
ClinGen gnomAD |
|
|
CA365395204 rs1376367370 |
325 | Q>L | No |
ClinGen gnomAD |
|
|
rs199837822 CA3969604 |
327 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1167331467 CA365395583 |
334 | M>V | No |
ClinGen gnomAD |
|
|
COSM1072387 CA3969606 rs755108093 |
335 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA365395737 rs1328063605 |
339 | G>D | No |
ClinGen gnomAD |
|
|
CA365395771 rs1371053063 |
340 | N>D | No |
ClinGen gnomAD |
|
|
rs1431389019 CA365395839 |
341 | W>* | No |
ClinGen gnomAD |
|
|
rs1277088054 CA365396052 |
350 | R>C | No |
ClinGen gnomAD |
|
|
rs770270587 CA3969609 |
350 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA145884212 rs986807496 |
351 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 353 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3969610 rs773623503 |
353 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365396130 rs1354827210 |
354 | G>S | No |
ClinGen gnomAD |
|
|
CA365396159 rs1209545754 |
356 | G>E | No |
ClinGen gnomAD |
|
|
rs1340425375 CA365396195 |
358 | P>R | No |
ClinGen TOPMed |
|
|
rs532393023 CA145884220 |
363 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1234050348 CA365396329 |
366 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs749615249 CA3969611 |
366 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1167400367 CA365396352 |
367 | L>V | No |
ClinGen gnomAD |
|
|
rs771332736 CA3969612 |
368 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365396413 rs1337756883 |
369 | T>I | No |
ClinGen gnomAD |
|
|
rs751821081 CA3969624 |
375 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1176532280 COSM201983 CA365397474 |
376 | G>D | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
COSM1072389 rs748219271 CA3969627 |
380 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3969626 rs781570880 |
380 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3969629 rs778320676 |
381 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs199585272 CA3969631 |
382 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774753703 CA3969632 |
386 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs774753703 CA365397534 |
386 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1308643814 CA365397549 |
388 | T>N | No |
ClinGen gnomAD |
|
|
rs752541152 CA145885695 |
390 | T>A | No |
ClinGen gnomAD |
|
|
rs746242827 CA3969633 |
390 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA365397606 rs1213631810 |
394 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1166994239 CA365397645 |
396 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA365397678 rs775032838 |
398 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3969635 rs775032838 |
398 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763556352 CA3969637 |
400 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1252851285 CA365397743 |
401 | T>I | No |
ClinGen gnomAD |
|
|
CA570037876 rs1440078435 |
402 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3969640 rs765282219 |
406 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 408 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3969642 rs150311697 |
408 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3969644 rs752910650 |
410 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1445577446 CA365398078 |
411 | N>D | No |
ClinGen gnomAD |
|
|
CA3969645 rs756187400 |
411 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777781268 CA3969648 |
413 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs566555871 CA3969646 |
413 | S>P | No |
ClinGen 1000Genomes |
|
|
CA3969649 rs754327250 |
415 | L>F | No |
ClinGen ExAC |
|
|
CA3969650 rs201214344 |
416 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746187739 CA3969652 |
425 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA365398740 rs1299408349 |
425 | R>H | No |
ClinGen Ensembl |
|
|
rs772444070 CA3969653 |
427 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA145885825 rs553725656 |
427 | I>V | No |
ClinGen Ensembl |
|
|
rs1258112277 CA365398914 |
430 | I>T | No |
ClinGen TOPMed |
|
|
rs1198223713 CA365398896 |
430 | I>V | No |
ClinGen gnomAD |
|
|
rs1374837199 CA365398937 |
431 | V>F | No |
ClinGen gnomAD |
|
|
rs1188396908 CA365399017 |
432 | H>L | No |
ClinGen TOPMed |
|
| TCGA novel | 433 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3969655 rs746709641 |
437 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3969656 rs768202990 |
438 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 440 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1266516966 CA365399346 |
440 | I>V | No |
ClinGen gnomAD |
|
|
CA3969657 rs775948855 |
442 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1423707879 CA365399579 |
445 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA365399577 rs1423707879 |
445 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 449 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 450 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218311559 CA365399796 |
451 | E>G | No |
ClinGen TOPMed |
|
|
CA3969658 rs751463171 |
460 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773305945 CA3969660 |
461 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs766127141 CA3969662 |
462 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 462 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3969663 rs144957600 |
463 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760862778 CA3969664 |
465 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365400264 rs1344672578 |
467 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA365400267 rs1344672578 |
467 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA365400340 rs1300329106 |
468 | I>M | No |
ClinGen TOPMed |
|
|
rs1218277067 CA365400426 |
471 | A>S | No |
ClinGen gnomAD |
|
|
rs1245898059 CA365400485 |
474 | G>R | No |
ClinGen gnomAD |
|
|
rs867058537 CA145885891 |
477 | Y>D | No |
ClinGen Ensembl |
|
|
rs753845781 CA3969666 |
478 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA365400676 rs757356537 |
479 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263331184 CA365400707 |
481 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3969668 rs779340056 |
482 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA3969669 rs750974183 |
484 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3969670 rs758790510 |
486 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs267600774 CA145885919 |
487 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA365400989 rs1166016479 |
489 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3969671 rs780344963 |
491 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1456885837 CA365401039 |
492 | K>E | No |
ClinGen gnomAD |
|
|
rs376824800 CA3969672 |
493 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1165499498 CA365401203 |
497 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 499 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276557453 CA365401515 |
505 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 505 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 506 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3969676 rs769479490 |
512 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1583236299 CA365401735 |
514 | K>R | No |
ClinGen Ensembl |
|
|
CA145885969 rs995025209 |
517 | L>V | No |
ClinGen TOPMed |
|
|
CA365401837 rs752185252 |
518 | A>E | No |
ClinGen gnomAD |
|
|
CA145885970 rs752185252 |
518 | A>V | No |
ClinGen gnomAD |
|
|
rs1260532703 CA365401898 |
520 | S>T | No |
ClinGen TOPMed |
|
|
CA3969677 rs773252437 |
523 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3969678 rs146728733 |
524 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365402123 rs1200500093 |
525 | V>A | No |
ClinGen gnomAD |
|
|
CA365402126 rs1200500093 |
525 | V>G | No |
ClinGen gnomAD |
|
|
rs770744879 CA3969679 |
526 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3969680 rs773958566 |
528 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 532 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3969681 rs759377172 |
533 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213902929 CA365402453 |
537 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA365402473 rs1280479759 |
538 | R>* | No |
ClinGen TOPMed |
|
|
rs776857406 RCV000513294 CA3969683 |
538 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA365402544 rs1562313827 |
542 | V>A | No |
ClinGen Ensembl |
|
|
CA3969685 rs756422407 |
542 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365402546 rs1395280206 |
543 | G>R | No |
ClinGen TOPMed |
|
|
CA365402620 rs1460852754 |
546 | N>D | No |
ClinGen TOPMed |
|
|
rs758776679 CA365402639 |
547 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766917076 CA3969688 |
547 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3969687 rs758776679 |
547 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3969691 rs143312750 |
550 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755394855 CA3969690 |
550 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3969693 rs755680561 |
554 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA145886037 rs868313788 |
560 | L>F | No |
ClinGen Ensembl |
|
|
rs1309704177 CA365402767 |
561 | L>Q | No |
ClinGen gnomAD |
|
|
rs1213688697 CA365402780 |
563 | P>L | No |
ClinGen TOPMed |
|
|
rs187363456 CA3969695 |
563 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1467538400 CA365402796 |
566 | L>F | No |
ClinGen TOPMed |
|
|
rs774374403 CA3969697 |
568 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA365402815 rs1260479717 |
569 | V>I | No |
ClinGen TOPMed |
|
|
CA365402819 rs1442446560 |
570 | D>N | No |
ClinGen gnomAD |
|
|
CA365402848 rs1339087565 |
573 | H>Q | No |
ClinGen TOPMed |
|
|
rs148075855 CA3969698 |
573 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201629368 CA145886069 |
575 | G>V | No |
ClinGen 1000Genomes |
|
|
rs201072681 CA145886073 |
576 | E>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1235653817 CA365402870 |
577 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 577 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3969699 rs771946798 |
578 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771946798 CA3969700 |
578 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3969701 rs762084403 |
579 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773212826 CA3969703 |
581 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1439663212 CA365402923 |
582 | T>A | No |
ClinGen gnomAD |
|
|
rs763127114 CA3969704 |
582 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3969705 rs369887455 |
584 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1333754724 CA365402981 |
587 | F>L | No |
ClinGen gnomAD |
|
|
rs768059844 CA3969708 |
592 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA365403070 rs1331841581 |
593 | P>R | No |
ClinGen gnomAD |
|
|
rs1395469969 CA365403135 |
598 | V>M | No |
ClinGen TOPMed |
|
|
rs528973747 CA3969710 |
599 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777571687 CA3969711 |
603 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA365403199 rs777571687 |
603 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3969712 rs748704369 |
607 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA145886138 rs979270278 |
607 | I>M | No |
ClinGen TOPMed |
|
|
CA3969713 rs756811977 |
609 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA145886145 rs867216581 |
610 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3969714 rs778689865 |
611 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs923736955 CA145886167 |
612 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs745854227 CA3969715 |
612 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA145886173 rs373168180 |
613 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373168180 CA3969716 |
613 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1457557673 CA365403393 |
615 | K>Q | No |
ClinGen gnomAD |
|
|
CA365403428 rs1437654699 |
616 | M>T | No |
ClinGen TOPMed |
|
|
rs775211758 CA3969717 |
619 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA365403505 rs1271317425 |
620 | D>N | No |
ClinGen TOPMed |
|
|
rs1478402459 CA365403525 |
621 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3969720 rs773446695 |
624 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA3969721 rs762921516 |
625 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA365403583 rs762921516 |
625 | S>T | No |
ClinGen ExAC TOPMed |
|
|
CA365403593 rs1232216029 |
626 | E>K | No |
ClinGen TOPMed |
|
|
CA365403649 rs1171593245 |
629 | T>I | No |
ClinGen gnomAD |
|
|
rs1281257030 CA365403664 |
631 | A>S | No |
ClinGen TOPMed |
|
|
rs1442836964 CA365403690 |
632 | S>A | No |
ClinGen TOPMed |
|
|
CA3969725 rs768151620 |
632 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs550208733 CA365403703 |
633 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1313185530 CA365403717 |
634 | T>A | No |
ClinGen gnomAD |
|
|
rs761151816 CA3969727 |
635 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA365403762 rs1272612273 |
636 | P>L | No |
ClinGen gnomAD |
|
|
rs753574194 CA3969729 |
637 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs763787753 CA3969728 |
637 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3969730 rs372851752 |
638 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365403802 rs372851752 |
638 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365403833 rs1194377582 |
640 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA365403832 rs1194377582 |
640 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs778549261 CA3969731 |
642 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3969733 rs758269032 RCV000762433 |
643 | G>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs758269032 CA365403919 |
643 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777514864 CA145886255 |
649 | V>I | No |
ClinGen Ensembl |
|
|
rs768490336 CA3969736 |
651 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3969738 rs375860937 |
654 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365405857 rs1404741687 |
655 | S>I | No |
ClinGen gnomAD |
|
|
CA365405883 rs1486178961 |
656 | P>L | No |
ClinGen TOPMed |
|
|
CA3969740 rs149384783 |
659 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1341866100 CA365406032 |
663 | L>V | No |
ClinGen gnomAD |
|
|
CA365406067 rs1400007142 |
665 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA365406073 rs1285034200 |
665 | I>T | No |
ClinGen TOPMed |
|
|
rs1400007142 CA365406066 |
665 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA145886325 rs886567565 |
669 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759691430 CA3969743 |
670 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1357440558 CA365406149 |
672 | Q>P | No |
ClinGen gnomAD |
|
|
CA365406159 rs1290139400 |
673 | S>G | No |
ClinGen gnomAD |
|
|
CA365406165 rs1562314748 |
673 | S>N | No |
ClinGen Ensembl |
|
|
rs1489320942 CA365406174 |
674 | F>L | No |
ClinGen gnomAD |
|
|
CA365406192 rs1277661759 |
675 | T>A | No |
ClinGen TOPMed |
|
|
CA365406199 rs1217511655 |
675 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 677 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3969747 rs764589290 |
678 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs753423780 CA3969748 |
680 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3969750 rs139942074 |
681 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3969749 rs139942074 |
681 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1161595975 CA365406268 |
681 | Q>R | No |
ClinGen gnomAD |
|
|
CA3969751 rs749911499 |
685 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3969754 rs143443243 |
688 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3969752 COSM1072395 rs757929433 |
688 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3969753 rs143443243 |
688 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754763112 CA3969755 |
689 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs148121424 CA3969756 |
691 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365406401 rs1406461457 |
692 | H>D | No |
ClinGen TOPMed |
|
|
rs374283523 CA3969757 |
692 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000520023 rs148394823 CA3969759 |
695 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1186156512 CA365406451 |
696 | T>A | No |
ClinGen TOPMed |
|
|
rs370594290 CA145886456 |
697 | Y>C | No |
ClinGen Ensembl |
|
|
CA365406498 rs1241467661 |
699 | W>* | No |
ClinGen gnomAD |
|
|
CA365406520 rs1242852782 |
701 | G>D | No |
ClinGen TOPMed |
|
|
CA365406527 rs1484905169 |
702 | E>K | No |
ClinGen gnomAD |
|
|
CA365406550 rs1230811861 |
703 | A>V | No |
ClinGen Ensembl |
|
|
rs967946904 CA145886474 |
704 | T>I | No |
ClinGen TOPMed |
|
|
CA3969761 rs745893299 |
705 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365406617 rs1181582839 |
709 | F>C | No |
ClinGen gnomAD |
|
|
rs533772643 CA3969764 |
710 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3969766 rs368920408 |
711 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 714 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1231162313 CA365406680 |
715 | D>G | No |
ClinGen TOPMed |
|
|
rs762120249 CA3969768 COSM1072396 |
716 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3969767 rs762120249 |
716 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3969769 rs549153887 |
716 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3969770 rs549153887 |
716 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762120249 CA365406686 COSM3828868 |
716 | R>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs765940110 CA3969771 |
717 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs751487700 CA3969772 |
718 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs754852913 CA3969773 |
723 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365406789 rs1448195044 |
724 | N>K | No |
ClinGen gnomAD |
|
|
CA365406784 rs1379546716 |
724 | N>Y | No |
ClinGen gnomAD |
|
|
CA3969775 rs568511733 |
725 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365406837 rs1235435476 |
727 | I>M | No |
ClinGen gnomAD |
|
|
rs1256649321 CA365406839 |
728 | K>E | No |
ClinGen gnomAD |
|
|
CA145886577 rs61744290 |
728 | K>R | No |
ClinGen TOPMed |
|
|
CA3969777 rs779169990 |
729 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3969778 rs746129064 |
731 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177941950 CA365406898 |
733 | P>A | No |
ClinGen gnomAD |
|
|
CA365406906 rs1248260501 |
733 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA365406902 rs1248260501 |
733 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA365406921 rs1420523668 |
735 | V>M | No |
ClinGen TOPMed |
|
|
CA365406984 rs1434824895 |
737 | D>V | No |
ClinGen gnomAD |
|
|
rs917359394 CA145886587 |
738 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs780336360 CA3969780 |
741 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3969782 rs769169826 |
743 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3969783 rs777031543 |
744 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 744 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748527580 CA3969784 |
746 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA365407131 rs1272398101 |
748 | H>R | No |
ClinGen TOPMed |
|
|
CA3969786 rs770096528 |
748 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219145544 CA365407190 |
753 | F>I | No |
ClinGen TOPMed |
|
|
CA365407202 rs1308983532 |
753 | F>L | No |
ClinGen TOPMed |
|
|
CA365407231 rs1371878373 |
756 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1211377125 CA365407314 |
762 | S>F | No |
ClinGen gnomAD |
|
|
CA365407318 rs1302116113 |
763 | R>* | No |
ClinGen gnomAD |
|
|
rs1302116113 CA365407316 |
763 | R>G | No |
ClinGen gnomAD |
|
|
rs772848000 CA3969787 |
763 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3969788 rs762654146 |
764 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3969790 rs773782030 COSM3783925 |
765 | R>Q | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs766035826 CA3969789 |
765 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3969791 rs192004599 |
768 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1562315407 CA365407365 |
768 | A>P | No |
ClinGen Ensembl |
|
|
CA145886642 rs980130642 |
771 | R>T | No |
ClinGen TOPMed |
|
|
CA3969793 rs752624508 |
776 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375417242 CA3969794 |
776 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3969796 rs750658796 |
777 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1355449404 CA365407429 |
778 | L>V | No |
ClinGen TOPMed |
|
|
CA3969798 rs575726053 |
779 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1353085015 CA365407469 |
782 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA365407465 rs1353085015 |
782 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3969799 rs140764351 |
782 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365407510 rs1562315516 |
785 | Q>L | No |
ClinGen Ensembl |
|
|
CA365407522 rs1414214120 |
786 | T>S | No |
ClinGen gnomAD |
|
|
CA3969800 rs755066741 |
786 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3969802 rs748671649 |
787 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3969803 rs770181030 |
788 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA365407557 rs1365046287 |
788 | E>G | No |
ClinGen gnomAD |
|
|
CA365407575 rs1341436696 |
790 | I>V | No |
ClinGen gnomAD |
|
|
rs1251665377 CA365407608 |
792 | R>T | No |
ClinGen TOPMed |
|
|
CA365407604 rs1481514670 |
792 | R>W | No |
ClinGen TOPMed |
|
| TCGA novel | 793 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 793 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365407619 rs1164397565 |
793 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA365407640 rs1222254791 |
794 | F>S | No |
ClinGen gnomAD |
|
|
rs759063890 CA3969808 |
796 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA3969807 rs774012350 |
796 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA365407680 rs1489645697 |
797 | S>* | No |
ClinGen gnomAD |
|
|
rs1583238640 CA365407713 |
800 | Q>K | No |
ClinGen Ensembl |
|
|
CA3969810 rs775488755 |
802 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3969809 rs150197356 |
802 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371447746 CA3969811 |
807 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3969812 rs375296636 |
809 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3969814 rs367959320 |
810 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766690715 CA3969815 |
811 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1385224922 CA365407798 |
812 | A>T | No |
ClinGen gnomAD |
|
|
CA145886809 rs760979521 |
815 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3969816 rs751773388 |
815 | R>H | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751773388 CA3969817 |
815 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365407903 rs1440384471 |
820 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 820 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3969818 rs781187613 |
821 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778282572 CA3969821 |
822 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1554228463 CA365407943 |
823 | P>R | No |
ClinGen Ensembl |
|
|
CA3969822 rs749603809 |
825 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs540510527 CA145886859 |
825 | I>V | No |
ClinGen 1000Genomes |
|
| TCGA novel | 826 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393311020 CA365407982 |
826 | F>S | No |
ClinGen TOPMed |
|
|
CA365407998 rs1173944965 |
827 | A>V | No |
ClinGen TOPMed |
|
|
rs771332811 CA3969823 |
828 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3969824 rs372548177 |
829 | I>M | No |
ClinGen ESP ExAC |
|
|
rs1396269339 CA365408017 |
829 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs745571339 CA3969825 |
831 | V>A | No |
ClinGen ExAC |
|
| TCGA novel | 831 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259243016 CA365408056 |
832 | N>D | No |
ClinGen TOPMed |
|
|
CA3969827 rs774802002 |
832 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760233377 CA3969828 |
834 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365408114 rs1290772339 |
836 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3969829 rs147927564 |
836 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365408133 rs1213224276 |
837 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs776761775 CA3969830 |
840 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 847 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765194467 CA3969832 |
848 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3969831 rs761673358 |
848 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1182878832 CA365408300 |
849 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 849 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562315965 CA365408315 |
850 | I>T | No |
ClinGen Ensembl |
|
|
rs1384970167 CA365408306 |
850 | I>V | No |
ClinGen gnomAD |
|
|
rs1357731993 CA365408324 |
851 | D>H | No |
ClinGen TOPMed |
|
|
rs1357731993 CA365408322 |
851 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 851 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs182628432 CA3969835 |
853 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141760003 CA145886911 |
853 | D>N | No |
ClinGen ESP |
|
|
rs1414390338 CA365408398 |
856 | M>L | No |
ClinGen TOPMed |
|
|
CA365408414 rs1311549774 |
857 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs752681383 CA365408440 |
858 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3969836 rs767787523 |
858 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1157213700 CA365408462 |
860 | L>S | No |
ClinGen gnomAD |
|
|
CA365408499 rs1583239240 |
862 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 863 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 863 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202025988 CA3969838 |
864 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365408523 rs1357117622 |
865 | V>I | No |
ClinGen Ensembl |
|
|
rs778229447 CA3969839 |
867 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA145886946 rs774960997 |
868 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3969841 rs757610525 |
868 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 869 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 869 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746254694 CA3969843 |
870 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 871 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757918379 CA3969845 |
873 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3969846 rs779782263 |
874 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA365408723 rs1181055701 |
878 | G>D | No |
ClinGen gnomAD |
|
|
rs776708834 CA3969849 |
879 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113277624 CA3969848 |
879 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365408790 rs1188291973 |
882 | Q>* | No |
ClinGen TOPMed |
|
|
CA365408813 rs1175622871 |
883 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769866630 CA3969851 |
884 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA365408852 rs1562316238 |
885 | M>L | No |
ClinGen Ensembl |
|
|
rs1583239469 CA365408894 |
886 | V>G | No |
ClinGen Ensembl |
|
|
CA365408889 rs1403670567 |
886 | V>M | No |
ClinGen gnomAD |
|
|
CA365408933 rs376771433 |
888 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3969854 rs376771433 |
888 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA145887024 rs562207333 |
890 | H>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 891 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365409001 rs1335173362 |
891 | S>N | No |
ClinGen gnomAD |
|
|
CA3969856 rs760714849 |
892 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs371032206 CA3969855 |
892 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 894 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1294275058 CA365409115 |
895 | S>P | No |
ClinGen TOPMed |
|
|
CA3969857 rs149649831 |
896 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1425741239 COSM450381 CA365409147 |
897 | S>F | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA365409206 rs1297941039 |
898 | A>G | No |
ClinGen TOPMed |
|
|
rs1338959237 CA365409163 |
898 | A>T | No |
ClinGen TOPMed |
|
|
rs754326863 CA3969858 |
900 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1024803970 CA145887076 |
901 | T>S | No |
ClinGen TOPMed |
|
|
CA3969859 rs757700379 |
902 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3969860 rs765776789 |
902 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1437797420 CA365409312 |
903 | L>S | No |
ClinGen gnomAD |
|
|
CA365409335 rs1203004506 |
904 | F>L | No |
ClinGen gnomAD |
|
|
CA3969862 rs758849833 |
909 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3969864 rs377694163 |
910 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs754526724 CA3969865 |
914 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3969867 rs780791978 |
918 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395478651 CA365409599 |
918 | M>T | No |
ClinGen gnomAD |
|
|
rs780791978 CA3969866 |
918 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 923 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372110042 CA3969870 |
926 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA365409772 rs1280791115 |
927 | Q>R | No |
ClinGen gnomAD |
|
|
rs1218827790 CA365409820 |
930 | H>R | No |
ClinGen gnomAD |
|
|
rs1271185009 CA365409839 |
931 | G>S | No |
ClinGen gnomAD |
|
|
CA365409867 rs1562316513 |
932 | Q>R | No |
ClinGen Ensembl |
|
|
rs746687514 CA145887272 |
934 | C>Y | No |
ClinGen Ensembl |
|
|
rs775568992 CA3969872 |
936 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA365409977 rs1292562495 |
937 | A>T | No |
ClinGen gnomAD |
|
|
CA365410006 rs1221933953 |
938 | V>D | No |
ClinGen gnomAD |
|
|
CA3969873 rs760945750 |
938 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3969875 rs764310789 |
939 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3969874 rs764310789 |
939 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA365410034 rs1428631708 |
940 | L>H | No |
ClinGen TOPMed |
|
| TCGA novel | 940 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3969876 rs761910676 |
941 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA365410054 rs1470228895 |
942 | D>H | No |
ClinGen TOPMed |
|
|
rs527582839 CA365410073 |
943 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3969877 rs527582839 |
943 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763226255 CA3969879 |
948 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA145887294 rs374625904 |
948 | W>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3969880 rs766829204 |
950 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3969882 rs754612467 |
951 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3969883 rs781025050 |
952 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs923403088 CA145887308 |
957 | Q>R | No |
ClinGen TOPMed gnomAD |
1 associated diseases with Q9UL01
[MIM: 615539]: Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2)
A form of Ehlers-Danlos syndrome characterized by progressive multisystem manifestations, including joint dislocations and deformities, skin hyperextensibility, skin bruisability and fragility with recurrent large subcutaneous hematomas, cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications. Motor developmental delay is associated with muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood. {ECO:0000269|PubMed:23704329}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Ehlers-Danlos syndrome characterized by progressive multisystem manifestations, including joint dislocations and deformities, skin hyperextensibility, skin bruisability and fragility with recurrent large subcutaneous hematomas, cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications. Motor developmental delay is associated with muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood. {ECO:0000269|PubMed:23704329}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q9UL01
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Heparinase II, N-terminal | 150 - 314 | IPR032518 |
Functions
| Description | ||
|---|---|---|
| EC Number | 5.1.3.19 | Acting on carbohydrates and derivatives |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic vesicle membrane | The lipid bilayer surrounding a cytoplasmic vesicle. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| chondroitin-glucuronate 5-epimerase activity | Catalysis of the reaction: chondroitin D-glucuronate = dermatan L-iduronate. |
| metal ion binding | Binding to a metal ion. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| chondroitin sulfate biosynthetic process | The chemical reactions and pathways resulting in the formation of chondroitin sulfate, any member of a group of 10-60 kDa glycosaminoglycans, widely distributed in cartilage and other mammalian connective tissues, the repeat units of which consist of beta-(1,4)-linked D-glucuronyl beta-(1,3)-N-acetyl-D-galactosamine sulfate. |
| chondroitin sulfate metabolic process | The chemical reactions and pathways involving chondroitin sulfate, any member of a group of 10-60 kDa glycosaminoglycans, widely distributed in cartilage and other mammalian connective tissues, the repeat units of which consist of beta-(1,4)-linked D-glucuronyl beta-(1,3)-N-acetyl-D-galactosamine sulfate. They usually occur linked to a protein to form proteoglycans. Two subgroups exist, one in which the sulfate is on the 4-position (chondroitin sulfate A) and the second in which it is in the 6-position (chondroitin sulfate C). They often are polydisperse and often differ in the degree of sulfation from tissue to tissue. The chains of repeating disaccharide are covalently linked to the side chains of serine residues in the polypeptide backbone of a protein by a glycosidic attachment through the trisaccharide unit galactosyl-galactosyl-xylosyl. Chondroitin sulfate B is more usually known as dermatan sulfate. |
| dermatan sulfate biosynthetic process | The chemical reactions and pathways resulting in the formation of dermatan sulfate, any glycosaminoglycan with repeats consisting of beta-(1,4)-linked L-iduronyl-beta-(1,3)-N-acetyl-D-galactosamine 4-sulfate units. |
| dermatan sulfate metabolic process | The chemical reactions and pathways involving dermatan sulfate, any of a group of glycosaminoglycans with repeats consisting of beta-(1,4)-linked L-iduronyl-beta-(1,3)-N-acetyl-D-galactosamine 4-sulfate units. They are important components of ground substance or intercellular cement of skin and some connective tissues. |
| heparan sulfate proteoglycan biosynthetic process | The chemical reactions and pathways resulting in the formation of the heparan sulfate proteoglycan, a glycosaminoglycan with repeat unit consisting of alternating alpha-(1->4)-linked hexuronic acid and glucosamine residues; the former are a mixture of sulfated and nonsulfated D-glucuronic acid and L-iduronic acid; the L-iduronic acid is either sulfated or acetylated on its amino group as well as being sulfated on one of its hydroxyl groups; heparan sulfate chains are covalently linked to peptidyl-serine by a glycosidic attachment through the trisaccharide galactosyl-galactosyl-xylosyl to serine residues. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRTHTRGAPS | VFFIYLLCFV | SAYITDENPE | VMIPFTNANY | DSHPMLYFSR | AEVAELQLRA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ASSHEHIAAR | LTEAVHTMLS | SPLEYLPPWD | PKDYSARWNE | IFGNNLGALA | MFCVLYPENI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EARDMAKDYM | ERMAAQPSWL | VKDAPWDEVP | LAHSLVGFAT | AYDFLYNYLS | KTQQEKFLEV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IANASGYMYE | TSYRRGWGFQ | YLHNHQPTNC | MALLTGSLVL | MNQGYLQEAY | LWTKQVLTIM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EKSLVLLREV | TDGSLYEGVA | YGSYTTRSLF | QYMFLVQRHF | NINHFGHPWL | KQHFAFMYRT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ILPGFQRTVA | IADSNYNWFY | GPESQLVFLD | KFVMRNGSGN | WLADQIRRNR | VVEGPGTPSK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GQRWCTLHTE | FLWYDGSLKS | VPPPDFGTPT | LHYFEDWGVV | TYGSALPAEI | NRSFLSFKSG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KLGGRAIYDI | VHRNKYKDWI | KGWRNFNAGH | EHPDQNSFTF | APNGVPFITE | ALYGPKYTFF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NNVLMFSPAV | SKSCFSPWVG | QVTEDCSSKW | SKYKHDLAAS | CQGRVVAAEE | KNGVVFIRGE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GVGAYNPQLN | LKNVQRNLIL | LHPQLLLLVD | QIHLGEESPL | ETAASFFHNV | DVPFEETVVD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GVHGAFIRQR | DGLYKMYWMD | DTGYSEKATF | ASVTYPRGYP | YNGTNYVNVT | MHLRSPITRA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AYLFIGPSID | VQSFTVHGDS | QQLDVFIATS | KHAYATYLWT | GEATGQSAFA | QVIADRHKIL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FDRNSAIKSS | IVPEVKDYAA | IVEQNLQHFK | PVFQLLEKQI | LSRVRNTASF | RKTAERLLRF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SDKRQTEEAI | DRIFAISQQQ | QQQSKSKKNR | RAGKRYKFVD | AVPDIFAQIE | VNEKKIRQKA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QILAQKELPI | DEDEEMKDLL | DFADVTYEKH | KNGGLIKGRF | GQARMVTTTH | SRAPSLSASY |
| 910 | 920 | 930 | 940 | 950 | |
| TRLFLILNIA | IFFVMLAMQL | TYFQRAQSLH | GQRCLYAVLL | IDSCILLWLY | SSCSQSQC |