Q13822
PR
Gene name |
ENPP2 |
Protein name |
Ectonucleotide pyrophosphatase/phosphodiesterase family member 2 |
Names |
E-NPP 2, Autotaxin, Extracellular lysophospholipase D, LysoPLD |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5168 |
EC number |
3.1.4.39: Phosphoric diester hydrolases |
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
10 structures for Q13822
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4ZG6 | X-ray | 180 A | A/B | 17-863 | PDB |
| 4ZG7 | X-ray | 175 A | A | 55-860 | PDB |
| 4ZG9 | X-ray | 295 A | A/B | 1-863 | PDB |
| 4ZGA | X-ray | 260 A | A | 1-863 | PDB |
| 5KXA | X-ray | 259 A | A | 1-863 | PDB |
| 5M7M | X-ray | 270 A | A | 1-863 | PDB |
| 5MHP | X-ray | 243 A | A | 1-863 | PDB |
| 8C3O | X-ray | 247 A | A/B | 1-863 | PDB |
| 8C3P | X-ray | 238 A | A/B | 1-863 | PDB |
| AF-Q13822-F1 | Predicted | AlphaFoldDB |
644 variants for Q13822
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs370024218 RCV002532976 CA4855856 RCV000714755 |
799 | R>W | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs754449357 CA4856744 |
2 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1563764517 CA371896629 |
2 | A>V | No |
ClinGen Ensembl |
|
|
rs1219482362 CA371896627 |
3 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1587554972 CA371896626 |
3 | R>K | No |
ClinGen Ensembl |
|
|
rs761158154 CA4856743 |
3 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA4856741 rs144449148 |
4 | R>K | No |
ClinGen ESP ExAC |
|
|
rs762106971 CA4856739 |
5 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs762856505 CA4856736 |
6 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142729903 CA4856737 |
6 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371896606 rs762856505 COSM1251207 COSM1251206 |
6 | S>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1177007265 CA371896598 |
7 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1414135809 CA371896593 |
8 | Q>R | No |
ClinGen gnomAD |
|
|
CA371896588 rs1423397335 |
9 | S>P | No |
ClinGen gnomAD |
|
|
CA4856733 rs745616088 |
10 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1186955091 CA371896577 |
10 | C>W | No |
ClinGen TOPMed |
|
|
CA4856732 rs780981890 |
11 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1181929902 CA371896554 |
12 | I>K | No |
ClinGen gnomAD |
|
|
rs1181929902 CA371896553 |
12 | I>T | No |
ClinGen gnomAD |
|
|
CA371896550 rs1472199477 |
13 | I>L | No |
ClinGen gnomAD |
|
|
rs1043447285 CA184322267 |
14 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1238217686 CA371896537 |
15 | L>V | No |
ClinGen TOPMed |
|
|
rs573911286 CA4856715 |
17 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775542252 CA184322252 |
20 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775542252 CA4856713 |
20 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770820762 CA4856712 |
21 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1324027103 CA371896497 |
22 | V>I | No |
ClinGen gnomAD |
|
|
CA371896490 rs1314115969 |
23 | N>D | No |
ClinGen gnomAD |
|
|
rs746615570 CA4856711 |
23 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs772954841 CA4856710 |
27 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs778578318 CA4856707 |
28 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA4856708 rs747609606 |
28 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371795697 CA4856706 |
30 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA184322232 rs138726849 |
32 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
COSM1597428 COSM1095493 rs746442526 CA4856705 |
32 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 34 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368820942 CA4856704 |
34 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371896410 rs1234629300 |
35 | R>S | No |
ClinGen gnomAD |
|
|
rs1040138142 CA184322224 |
38 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1439909567 CA371896364 |
42 | G>S | No |
ClinGen gnomAD |
|
|
rs149181486 CA4856702 |
43 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4856701 rs764330325 |
44 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs142159682 CA4856700 |
45 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142159682 CA4856699 |
45 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371895526 rs1301732840 |
50 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371895518 rs1222196302 |
51 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4856670 rs768454332 |
53 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs762477048 CA4856669 |
54 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs77358867 CA4856666 |
57 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771405069 CA4856667 |
57 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778100886 CA4856665 |
59 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs772478263 CA4856664 |
60 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1195058518 CA371895457 |
61 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs748334064 CA4856663 |
61 | G>S | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA184317243 rs749042128 |
62 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs965598810 CA184317239 |
63 | C>S | No |
ClinGen TOPMed |
|
|
rs150370902 CA4856662 |
66 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1259749953 CA371895421 |
66 | L>R | No |
ClinGen gnomAD |
|
|
rs1202333882 CA371895419 |
67 | Q>K | No |
ClinGen gnomAD |
|
|
CA4856660 rs753895161 |
69 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1321182298 CA371895399 |
70 | G>R | No |
ClinGen gnomAD |
|
|
CA4856658 rs756072694 |
71 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1427093740 CA371895386 |
72 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA371895379 rs1315600703 |
73 | D>G | No |
ClinGen gnomAD |
|
|
rs750384283 CA4856657 |
73 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs767398774 CA4856656 |
75 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs76491956 CA4856654 |
75 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4856655 rs76491956 |
75 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370548017 CA4856653 |
78 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775058725 CA4856651 |
80 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1171923706 CA371895307 |
83 | Y>S | No |
ClinGen gnomAD |
|
|
rs769242153 CA4856650 |
84 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371895302 rs1587519790 |
84 | T>P | No |
ClinGen Ensembl |
|
|
CA371895298 rs769242153 |
84 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371895293 rs1371909864 |
85 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4856649 rs761218415 |
89 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1286515051 CA371895261 |
89 | D>V | No |
ClinGen gnomAD |
|
|
CA4856648 rs149934124 |
92 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772602867 CA4856647 |
96 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs748466835 CA4856646 |
97 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140404753 CA4856624 |
99 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4856623 rs151027614 |
99 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371894911 rs369408759 |
100 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369408759 CA4856622 |
100 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371894892 rs1378648834 |
102 | E>G | No |
ClinGen gnomAD |
|
|
rs928057326 CA184314167 |
104 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1364872868 CA371894875 |
105 | K>E | No |
ClinGen TOPMed |
|
|
rs1472597650 CA371894852 |
108 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA371894851 rs1472597650 |
108 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA184314161 rs961584170 |
111 | V>G | No |
ClinGen Ensembl |
|
|
rs977546991 CA184314160 |
112 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4856618 rs758163675 |
112 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4856617 rs758163675 |
112 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1024483000 CA184314149 |
113 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs752563633 CA4856616 |
117 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs201094384 CA4856613 |
122 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4856612 rs765942255 |
123 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA184314124 rs182826316 |
123 | D>N | No |
ClinGen 1000Genomes |
|
|
rs796311223 CA184314116 |
126 | A>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 130 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452094195 CA371894510 |
131 | C>Y | No |
ClinGen gnomAD |
|
|
rs1268177163 CA371894405 |
137 | V>F | No |
ClinGen gnomAD |
|
|
rs61758151 CA184314102 |
139 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 140 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381695827 CA371894155 |
141 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4856587 rs759807131 |
142 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs564718427 CA4856584 |
143 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371894135 rs1405091451 |
143 | H>R | No |
ClinGen gnomAD |
|
|
rs773360003 CA4856583 |
144 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs771841982 CA4856582 |
146 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA371894048 rs1474171523 |
149 | C>Y | No |
ClinGen gnomAD |
|
|
rs778561431 CA4856580 |
150 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461095653 CA371894001 |
152 | I>V | No |
ClinGen gnomAD |
|
|
CA4856578 rs748910277 |
153 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs779643312 CA4856577 |
154 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371893965 rs749836696 |
155 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4856575 rs749836696 |
155 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 156 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA184313131 rs756251908 |
158 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs780821667 CA4856574 |
159 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA184313128 rs772251991 |
159 | A>S | No |
ClinGen Ensembl |
|
|
rs780821667 CA184313125 |
159 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374364048 CA4856573 |
160 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371893192 rs1339754637 |
162 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
COSM1454519 COSM1454520 rs767465276 CA4856546 |
163 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA184312088 rs767465276 |
163 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4856545 rs774437303 |
163 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4856544 rs774437303 |
163 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371893184 rs774437303 |
163 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1028829570 CA184312070 |
165 | P>L | No |
ClinGen TOPMed |
|
|
rs1265439529 CA371893146 |
168 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs775252310 CA4856541 |
168 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1265439529 CA371893145 |
168 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1485660852 COSM168731 CA371893124 |
169 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4856539 rs745478300 |
171 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776304212 COSM3412720 CA4856538 COSM3412719 |
175 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 177 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs943628985 CA184312010 |
178 | Y>H | No |
ClinGen Ensembl |
|
|
CA4856536 rs140568893 |
179 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4856535 rs777429528 |
180 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs757880591 CA184311992 |
182 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1587491615 CA371892940 |
182 | G>R | No |
ClinGen Ensembl |
|
|
rs1291283596 CA371892908 |
183 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1010882945 CA184311988 |
185 | V>D | No |
ClinGen TOPMed |
|
|
CA371892880 rs755542454 |
185 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA4856534 rs755542454 |
185 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA371892836 rs1467867969 |
186 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 186 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4856533 rs749870275 |
187 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371892688 rs1371505864 |
191 | K>R | No |
ClinGen TOPMed |
|
|
rs1390599744 CA371892545 |
193 | R>T | No |
ClinGen TOPMed |
|
|
rs1587490515 CA371892533 |
194 | S>T | No |
ClinGen Ensembl |
|
|
COSM1551484 COSM1551483 CA371892457 rs1252523976 |
197 | T>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs780572324 CA4856513 |
200 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3833944 CA184311750 rs746187066 COSM3833945 CA4856511 |
202 | M>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA |
|
CA4856512 rs770227396 |
202 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs754090722 CA4856510 |
204 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA184311746 rs1028774132 |
204 | P>S | No |
ClinGen TOPMed |
|
|
rs1450850957 CA371892297 |
205 | V>M | No |
ClinGen gnomAD |
|
|
rs1337935868 CA371892243 |
208 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 208 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4856507 rs143729694 |
212 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4856506 rs758431016 |
218 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 219 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371891840 rs1307456492 |
220 | G>E | No |
ClinGen TOPMed |
|
|
CA371891795 rs1231018593 |
222 | Y>F | No |
ClinGen TOPMed |
|
|
CA371891719 rs1480440662 |
228 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 230 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs573739411 CA371891672 |
231 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754933177 CA4856484 |
233 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs778923067 CA4856485 |
233 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs145074227 CA4856483 |
234 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1204868038 CA371891610 |
236 | P>T | No |
ClinGen gnomAD |
|
|
CA371891591 rs1285666765 |
237 | V>I | No |
ClinGen gnomAD |
|
|
rs1345498550 CA371891539 |
240 | A>D | No |
ClinGen gnomAD |
|
|
rs1224671586 CA371891547 |
240 | A>T | No |
ClinGen gnomAD |
|
|
CA4856482 rs766169230 |
241 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4856481 rs755936544 |
242 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs750266768 CA4856480 |
243 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4856478 COSM1095481 COSM1597433 rs761562708 |
245 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4856477 rs773908222 |
245 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776028490 CA184311330 |
247 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA184311324 rs377608124 |
247 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4856476 rs377608124 |
247 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4856475 rs760057302 |
248 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776962188 CA4856474 |
252 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs773569075 CA4856471 |
257 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs566447126 CA4856472 |
257 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4856470 rs772273006 |
258 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779031921 CA4856468 |
259 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA184311273 rs986661894 |
259 | P>S | No |
ClinGen Ensembl |
|
| rs1028228576 | 260 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4856444 rs769851357 |
261 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs745860533 CA4856443 |
262 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1412097548 CA371890043 |
263 | T>I | No |
ClinGen gnomAD |
|
|
CA184305571 rs868620402 |
264 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371890009 rs778302133 |
266 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1490869944 CA371890005 |
267 | Q>K | No |
ClinGen gnomAD |
|
|
rs140117647 CA4856439 |
268 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4856440 rs202210788 |
268 | G>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 269 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4856436 rs372101304 |
271 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4856435 rs372101304 |
271 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4856434 rs761152229 |
273 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226515493 CA371888252 |
279 | V>F | No |
ClinGen gnomAD |
|
|
rs1226515493 CA371888253 |
279 | V>L | No |
ClinGen gnomAD |
|
|
CA184292828 rs367992382 COSM1488962 COSM453926 |
282 | H>Q | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs778366431 CA4856418 |
283 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 283 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778366431 CA4856417 |
283 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4856415 rs61753746 |
284 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754447477 CA4856416 |
284 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767858173 CA4856414 |
286 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs762387189 CA4856413 |
289 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA371888155 rs1344986886 |
289 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 294 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371888093 rs1471238484 |
294 | T>S | No |
ClinGen gnomAD |
|
|
rs1482783398 CA371888076 |
296 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 300 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4856408 rs770160906 |
300 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4856399 rs778493035 |
301 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 301 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1205339 COSM120883 CA371887881 rs1563718147 |
302 | S>L | upper_aerodigestive_tract large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA371887889 rs1428139135 |
302 | S>P | No |
ClinGen gnomAD |
|
|
CA371887851 rs1193713914 |
303 | V>G | No |
ClinGen TOPMed |
|
|
CA4856396 rs779682254 |
305 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4856395 rs757693550 |
306 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199817198 CA371887720 |
308 | S>F | No |
ClinGen gnomAD |
|
|
rs1252546525 CA371887683 |
310 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA184292061 rs866504624 |
312 | D>Y | No |
ClinGen Ensembl |
|
|
rs371169598 CA371887370 |
322 | G>C | No |
ClinGen ESP TOPMed |
|
|
rs371169598 CA184292045 |
322 | G>S | No |
ClinGen ESP TOPMed |
|
|
CA184292043 rs919610703 |
322 | G>V | No |
ClinGen Ensembl |
|
|
rs576690236 CA4856389 |
323 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765487421 CA4856390 |
323 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452351471 CA371883890 COSM172264 |
325 | M>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA4856312 rs747086548 |
325 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1228721427 CA371883907 |
325 | M>V | No |
ClinGen gnomAD |
|
|
COSM3395085 rs1563709254 COSM3395086 CA371883880 |
326 | T>K | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1282386453 CA371883841 |
328 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 328 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320085631 CA371883803 |
331 | E>Q | No |
ClinGen Ensembl |
|
|
COSM202513 CA371883763 rs1367097862 |
333 | D>N | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4856309 rs752612290 |
335 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4856310 rs758333818 |
335 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1623559 CA371883704 COSM1623558 rs1179468432 |
337 | G>E | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA184285456 rs986347445 |
337 | G>R | No |
ClinGen TOPMed |
|
|
CA371883697 rs1278976886 |
338 | Q>* | No |
ClinGen TOPMed |
|
|
rs1456151316 CA371883687 |
338 | Q>H | No |
ClinGen gnomAD |
|
|
rs765247246 CA4856308 |
338 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 344 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753697373 CA4856306 |
347 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA4856303 rs369796903 |
350 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371883521 rs766985109 |
350 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA4856302 rs766985109 |
350 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs369796903 CA4856304 |
350 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368155133 TCGA novel CA184285419 |
353 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD |
|
CA4856297 rs563432387 |
354 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4856296 rs771128092 |
356 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA184285401 rs569287310 |
357 | V>F | No |
ClinGen Ensembl |
|
|
CA371883403 rs1366872814 |
358 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA184282959 rs200671996 |
363 | E>D | No |
ClinGen Ensembl |
|
|
CA4856280 rs765656717 |
363 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA371882929 rs1421980013 |
366 | T>I | No |
ClinGen gnomAD |
|
|
rs1247272844 CA371882863 |
371 | E>D | No |
ClinGen gnomAD |
|
|
CA371882837 rs1484228542 |
374 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371882838 rs1484228542 |
374 | S>R | No |
ClinGen gnomAD |
|
|
rs1256071860 CA371882821 |
375 | N>S | No |
ClinGen gnomAD |
|
|
CA371882779 rs1231944947 |
378 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA371882754 rs1192792443 |
380 | V>G | No |
ClinGen TOPMed |
|
| TCGA novel | 384 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371882695 rs1371507383 |
385 | L>S | No |
ClinGen TOPMed |
|
|
CA371882678 rs1297312812 |
387 | P>T | No |
ClinGen gnomAD |
|
|
CA184282887 rs375370855 |
389 | T>A | No |
ClinGen ESP TOPMed |
|
|
CA184282881 rs769827825 |
390 | L>I | No |
ClinGen Ensembl |
|
|
CA4856275 rs773255093 |
393 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4856274 rs772349509 |
394 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1302312151 CA371882489 |
400 | N>H | No |
ClinGen gnomAD |
|
|
rs779117679 CA4856272 |
400 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4856271 rs768702907 |
401 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4856256 rs773628171 |
403 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371881783 rs1587400238 |
404 | D>A | No |
ClinGen Ensembl |
|
|
rs143559494 CA4856254 |
404 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 404 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 405 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371881770 COSM1095469 COSM1597438 rs1587400202 |
405 | P>S | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA4856253 rs774273515 |
406 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs202191091 CA4856250 |
413 | T>M | Variant assessed as Somatic; 0.0002859 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 416 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371881338 rs1321149451 |
417 | P>L | No |
ClinGen gnomAD |
|
|
CA4856222 rs756558000 |
418 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371881330 rs1274365919 |
418 | D>N | No |
ClinGen gnomAD |
|
|
CA371881324 rs1409113302 |
418 | D>V | No |
ClinGen gnomAD |
|
|
CA184278953 rs773180390 |
420 | H>Y | No |
ClinGen Ensembl |
|
|
rs1563698227 CA371881276 |
421 | F>V | No |
ClinGen Ensembl |
|
|
rs750980378 CA4856221 |
422 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200238911 CA4856219 |
423 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200238911 CA371881226 |
423 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200238911 CA4856220 |
423 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1334349830 CA371881188 |
425 | L>F | No |
ClinGen TOPMed |
|
|
rs751989974 CA4856218 |
425 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 426 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371881167 rs1353539844 |
426 | K>R | No |
ClinGen TOPMed |
|
|
rs1208632359 CA371881123 |
427 | Q>H | No |
ClinGen gnomAD |
|
|
rs769261390 CA4856217 |
428 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371881002 rs1271238636 |
431 | K>R | No |
ClinGen gnomAD |
|
|
COSM1488958 COSM1488957 rs1201156778 CA371880962 |
432 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4856215 rs775687676 |
432 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA371880937 rs1310235178 |
433 | L>F | No |
ClinGen TOPMed |
|
|
rs1223359325 CA371880801 |
438 | N>S | No |
ClinGen TOPMed |
|
|
CA4856211 rs61743437 |
439 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371880152 rs1222532262 |
440 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA184278886 rs987527310 |
444 | I>T | No |
ClinGen TOPMed |
|
|
rs746751386 CA4856210 |
445 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA371880072 rs1434275511 |
445 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4856209 rs773057462 |
446 | L>* | No |
ClinGen ExAC gnomAD |
|
|
COSM2156171 rs1006563712 CA184278857 COSM2156170 |
450 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA4856207 rs747849078 |
450 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371879992 rs747849078 |
450 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA371879957 rs1370257799 |
453 | H>L | No |
ClinGen gnomAD |
|
|
CA371879670 rs1408602803 |
457 | K>N | No |
ClinGen gnomAD |
|
|
CA4856192 rs138647379 |
458 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4856191 rs202031268 |
458 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4856190 rs202031268 |
458 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM223301 CA371879665 rs138647379 |
458 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs138647379 CA371879667 |
458 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1035447902 CA184277031 |
460 | D>N | No |
ClinGen Ensembl |
|
|
rs761628590 CA4856189 COSM77648 |
461 | V>I | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4856188 rs773945079 |
463 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748768934 CA4856186 |
465 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1251396266 CA371879580 |
465 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA371879572 rs1305560507 |
466 | S>P | No |
ClinGen gnomAD |
|
|
rs567059238 CA184276984 |
467 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs771458355 CA4856184 |
467 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs747556345 CA371879540 |
468 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371879535 rs1218830399 |
469 | C>R | No |
ClinGen TOPMed |
|
|
CA371879520 rs1300360889 |
470 | F>L | No |
ClinGen TOPMed |
|
|
rs1310257966 COSM362812 CA371879502 |
471 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 472 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371879481 rs1355599269 |
472 | Q>R | No |
ClinGen gnomAD |
|
|
CA371879422 rs1411148162 |
474 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA371879415 rs1563694950 |
475 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 476 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371879399 rs1307029342 |
476 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 478 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753120756 CA4856180 |
482 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1024327496 CA184276972 |
483 | S>R | No |
ClinGen TOPMed |
|
|
CA371879252 rs1249094697 |
484 | M>T | No |
ClinGen gnomAD |
|
|
rs570331954 CA184276966 |
485 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs369132467 CA4856179 |
485 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 487 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 488 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1563694483 CA371879067 |
489 | V>G | No |
ClinGen Ensembl |
|
|
CA371879081 rs1326357134 |
489 | V>I | No |
ClinGen TOPMed |
|
|
CA371879015 rs10283100 |
493 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_060469 rs10283100 CA4856155 |
493 | S>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA371879016 rs10283100 |
493 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1333331856 CA371878998 |
494 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4856154 rs750516882 |
497 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs767379905 CA4856153 |
498 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA371878908 rs1213093603 |
498 | K>N | No |
ClinGen gnomAD |
|
|
CA371878903 rs1360559829 |
499 | T>A | No |
ClinGen Ensembl |
|
|
CA371878847 rs1301585403 |
502 | P>S | No |
ClinGen gnomAD |
|
|
rs757256892 CA4856151 |
503 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 505 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770248113 CA184276687 |
506 | N>S | No |
ClinGen Ensembl |
|
|
rs1270663440 CA371878801 |
506 | N>Y | No |
ClinGen TOPMed |
|
|
rs368406755 CA4856149 |
507 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751359427 CA4856150 |
507 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 508 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4856147 rs774954814 |
509 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs764990239 CA4856146 |
511 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371878695 rs1409173361 |
514 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4856130 rs140998085 |
515 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1454505 rs1232148362 COSM1454506 CA371878569 |
516 | L>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
COSM1151023 CA4856129 COSM749578 rs752537154 |
521 | P>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs764975897 CA4856128 |
522 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4856127 rs759319621 |
522 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA371878482 rs1210817460 |
524 | N>S | No |
ClinGen TOPMed |
|
|
rs375963655 CA184275851 |
528 | H>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1206226802 CA371878437 |
528 | H>Y | No |
ClinGen gnomAD |
|
|
rs766026134 CA4856125 |
530 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4856124 rs774673202 |
532 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774673202 CA4856123 |
532 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292726167 CA371878392 |
532 | N>S | No |
ClinGen gnomAD |
|
|
rs1352519988 CA371878382 COSM453922 COSM1488954 |
533 | H>R | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4856122 rs200876689 |
533 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 534 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142924657 COSM1582747 CA4856119 COSM1582746 |
536 | R>C | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs148571805 CA4856118 |
536 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs148571805 CA371878350 |
536 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142924657 CA4856120 |
536 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1384037448 CA371878346 |
537 | T>A | No |
ClinGen TOPMed |
|
|
CA4856117 rs781221284 |
538 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA371878324 rs1434329243 |
539 | T>A | No |
ClinGen gnomAD |
|
|
CA4856115 rs747123832 |
539 | T>N | No |
ClinGen ExAC |
|
|
CA4856114 rs777501255 |
542 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777501255 CA371878293 |
542 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA184275766 rs533864234 |
543 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4856112 rs533864234 |
543 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4856111 rs778901305 |
544 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs754645181 CA4856110 |
546 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371878231 rs1587385135 |
547 | E>D | No |
ClinGen Ensembl |
|
|
rs1436932351 CA371878204 |
550 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1436932351 CA371878206 |
550 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs753500207 CA371878198 |
551 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4856109 rs753500207 |
551 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566202012 CA4856107 |
552 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566202012 CA371878185 |
552 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 554 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 554 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4856106 rs764504735 |
555 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA4856105 rs764504735 |
555 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA371878143 rs1231459377 |
556 | I>T | No |
ClinGen gnomAD |
|
|
rs747023486 CA184275705 |
556 | I>V | No |
ClinGen Ensembl |
|
|
CA4856104 rs763576284 |
557 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA184275664 rs112823095 |
561 | S>P | No |
ClinGen Ensembl |
|
|
rs145860718 CA4856102 |
562 | D>N | No |
ClinGen ESP ExAC |
|
|
CA371878055 rs1238603130 |
563 | F>L | No |
ClinGen gnomAD |
|
|
rs759928164 CA4856101 |
565 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4856100 rs776773233 |
566 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181411436 CA371878008 |
567 | C>Y | No |
ClinGen TOPMed |
|
|
rs556210921 CA184275647 |
568 | T>A | No |
ClinGen Ensembl |
|
|
CA184275634 rs370241992 |
569 | C>Y | No |
ClinGen ESP TOPMed |
|
|
rs2289886 RCV000886830 VAR_057472 CA4856082 |
577 | N>S | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA184273725 rs140274904 |
578 | K>N | No |
ClinGen ESP |
|
|
CA371877269 rs1445362569 |
579 | L>V | No |
ClinGen gnomAD |
|
|
CA371877232 rs547709660 |
580 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4856079 rs547709660 |
580 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761005833 CA4856080 |
580 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs903996147 CA184273719 |
584 | K>E | No |
ClinGen TOPMed |
|
|
CA371877152 rs1355506977 |
585 | R>Q | No |
ClinGen TOPMed |
|
|
rs147145968 COSM1095461 CA4856078 COSM1154946 |
585 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs565201464 CA4856076 |
587 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4856077 rs143703655 |
587 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA184273681 rs917596731 |
590 | G>V | No |
ClinGen Ensembl |
|
|
rs1231837514 CA371877079 |
590 | G>W | No |
ClinGen gnomAD |
|
|
rs1363034497 CA371877060 |
591 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 592 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768719368 CA4856075 |
593 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA371929648 rs1283125215 |
595 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1283125215 CA371929650 |
595 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4856041 rs143488703 |
596 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371929636 rs1370166755 |
597 | L>F | No |
ClinGen gnomAD |
|
|
CA4856040 rs534341452 |
597 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371929631 rs1440782070 |
598 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA184982604 rs991284726 |
599 | Y>C | No |
ClinGen Ensembl |
|
|
CA4856038 rs767775503 |
599 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs762186077 CA4856037 |
600 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4856035 rs764313249 |
601 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371929614 rs763158723 |
601 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA4856034 rs763158723 |
601 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs374077888 CA4856033 |
603 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA184982602 rs958496131 |
605 | L>P | No |
ClinGen Ensembl |
|
|
rs776343564 CA4856030 |
606 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4856027 rs150759849 |
607 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4856028 rs150759849 |
607 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369390932 CA4856029 |
607 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371929582 rs1406380029 |
608 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA371929578 rs1404485336 |
608 | T>S | No |
ClinGen TOPMed |
|
|
rs747625040 CA4856025 |
609 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs747625040 CA371929573 |
609 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA184982601 rs1016611847 |
613 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4856024 rs780544005 |
614 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs61745442 CA4856023 |
616 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1563677242 CA371929518 |
617 | D>A | No |
ClinGen Ensembl |
|
|
rs781724289 CA4856021 |
620 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA371929488 rs1383324120 |
621 | G>C | No |
ClinGen gnomAD |
|
|
rs1016003417 CA184982599 |
621 | G>V | No |
ClinGen Ensembl |
|
|
CA371929474 rs1361350089 |
623 | S>N | No |
ClinGen gnomAD |
|
|
CA4856020 rs757525190 |
625 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4856019 rs764438025 |
626 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs764438025 CA4856018 |
626 | F>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 627 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752781986 CA4856016 |
628 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs148258074 CA4856017 |
628 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4856015 rs765203972 |
630 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563677144 CA371929428 |
630 | L>P | No |
ClinGen Ensembl |
|
|
rs1234538921 CA371929423 |
631 | W>* | No |
ClinGen TOPMed |
|
|
rs375979906 CA4856013 |
632 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770672175 CA4856012 |
632 | T>I | No |
ClinGen ExAC |
|
|
rs1429119166 CA371929411 |
633 | S>A | No |
ClinGen gnomAD |
|
|
rs1198132163 CA371929403 |
634 | Y>C | No |
ClinGen TOPMed |
|
|
rs772793217 CA4856010 |
636 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA371929353 rs1389632275 |
640 | A>P | No |
ClinGen TOPMed |
|
|
rs144857592 CA4855988 |
642 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs566612458 CA371929323 |
644 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1308800024 CA371929318 |
645 | V>A | No |
ClinGen gnomAD |
|
|
CA184982442 rs879040983 |
645 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1296053065 CA371929297 |
648 | H>L | No |
ClinGen TOPMed |
|
|
rs1227078478 CA371929302 |
648 | H>N | No |
ClinGen TOPMed |
|
|
CA4855981 rs748275252 |
653 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753919036 CA4855978 |
654 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs138793770 COSM1597442 COSM1095456 CA4855979 |
654 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA184982441 rs992471264 |
658 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs766300020 CA4855977 |
658 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248923381 CA371929224 |
660 | S>F | No |
ClinGen gnomAD |
|
|
CA4855976 rs375770524 |
661 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4855974 rs767257023 |
663 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA371929202 rs1451235278 |
664 | S>G | No |
ClinGen TOPMed |
|
|
CA371929193 rs1211914158 |
665 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 672 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761700896 CA4855973 |
674 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA4855972 rs773829603 |
675 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371929108 rs1371663008 |
676 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs371899853 CA4855970 |
676 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371899853 CA4855971 |
676 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138866490 CA184982439 |
677 | S>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA371929097 rs1158765696 |
678 | Y>C | No |
ClinGen gnomAD |
|
|
rs775211088 CA4855969 |
678 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA371929082 rs1368022197 |
680 | F>Y | No |
ClinGen TOPMed |
|
|
rs747554464 CA4855967 |
682 | F>L | No |
ClinGen ExAC TOPMed |
|
|
rs773884330 CA4855966 |
683 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4855943 rs768844412 |
686 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA371929025 CA371929026 rs1192584568 |
687 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs77319429 CA4855941 |
690 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs77319429 CA4855942 |
690 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA584675408 rs1445432360 |
690 | P>Y | No |
ClinGen gnomAD |
|
|
rs769817988 CA4855940 |
692 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA371928985 rs1205515638 |
694 | Y>C | No |
ClinGen gnomAD |
|
|
rs1023072254 CA184982329 |
694 | Y>H | No |
ClinGen gnomAD |
|
|
rs1217403225 CA371928980 |
695 | D>N | No |
ClinGen gnomAD |
|
|
rs780927674 CA4855938 |
696 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA371928961 rs1226062557 |
697 | F>L | No |
ClinGen gnomAD |
|
|
rs1367586893 COSM604007 CA371928926 COSM1144928 |
702 | M>I | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1014740504 CA184982328 |
702 | M>V | No |
ClinGen Ensembl |
|
|
rs1314351490 CA371928922 |
703 | V>A | No |
ClinGen gnomAD |
|
|
rs555545691 COSM4150490 CA184982327 COSM4150489 |
703 | V>I | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs757290550 CA4855937 |
705 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs149152218 CA4855936 |
711 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 712 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745935194 CA4855920 |
714 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411903128 CA371928812 |
717 | Q>R | No |
ClinGen gnomAD |
|
|
CA4855918 rs770738290 |
718 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4855917 rs746921100 |
719 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs778703026 CA4855913 |
724 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA371928767 rs747959051 |
724 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4855914 rs747959051 |
724 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs16892767 VAR_057473 CA4855912 |
726 | S>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs796494978 CA184981943 |
730 | G>* | No |
ClinGen Ensembl |
|
|
rs1287331560 CA371928724 |
730 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs765051693 CA184981942 |
731 | V>A | No |
ClinGen TOPMed |
|
|
rs765955147 CA4855910 |
731 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs752058503 CA4855908 |
733 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371928700 rs1587326355 |
734 | I>M | No |
ClinGen Ensembl |
|
|
CA4855907 rs764600924 |
735 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA184981941 rs200606371 |
738 | I>T | No |
ClinGen 1000Genomes |
|
|
CA4855906 rs763238987 |
738 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs547371219 CA371928668 |
739 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 740 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765436073 CA4855904 |
741 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4855901 rs770990409 |
743 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA371928641 rs1408431623 |
743 | Y>C | No |
ClinGen gnomAD |
|
|
rs776745270 CA4855902 |
743 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA371928612 rs1440557919 |
747 | H>Q | No |
ClinGen TOPMed |
|
|
rs374259521 CA4855899 |
747 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4855898 rs772200864 |
748 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA371928585 rs1376917100 |
751 | D>G | No |
ClinGen TOPMed |
|
|
CA371928589 rs1378888522 |
751 | D>N | No |
ClinGen Ensembl |
|
|
CA371928572 rs1244517953 |
753 | I>V | No |
ClinGen gnomAD |
|
|
rs1018695519 CA371928532 |
756 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1329786901 CA371928537 |
756 | Y>H | No |
ClinGen TOPMed |
|
|
CA4855877 rs61758149 |
757 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3432073 CA371928516 COSM3432072 rs1215278322 |
759 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 760 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347353936 CA371928505 |
760 | S>R | No |
ClinGen TOPMed |
|
|
CA371928499 rs1276521125 |
761 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA371928501 rs1361476100 |
761 | S>P | No |
ClinGen gnomAD |
|
|
rs1269091542 CA371928497 |
762 | I>L | No |
ClinGen TOPMed |
|
|
CA4855876 rs61758150 |
762 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749039802 CA4855875 |
763 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs779696830 CA4855874 |
764 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4855873 rs769387330 |
766 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs745375209 CA4855872 |
768 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA4855871 rs780717910 |
770 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371928439 rs1191018766 |
771 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 772 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4855868 rs779295605 |
773 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA371928419 rs1200248997 |
774 | S>C | No |
ClinGen gnomAD |
|
|
CA371928383 rs1587319198 |
779 | T>P | No |
ClinGen Ensembl |
|
|
CA184981755 rs373067900 |
782 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA371928364 rs373067900 |
782 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs201911203 COSM1095448 CA4855865 COSM1597446 |
783 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1235355369 CA371928348 |
784 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA371928349 rs1235355369 |
784 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760848363 CA4855864 |
786 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM202507 CA4855862 rs767656393 |
787 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1376821254 CA371928320 |
788 | P>R | No |
ClinGen gnomAD |
|
|
CA371928316 rs1462468547 |
789 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1367139354 CA371928307 |
790 | S>F | No |
ClinGen TOPMed |
|
|
rs1161446076 CA371928312 |
790 | S>P | No |
ClinGen TOPMed |
|
|
CA4855860 rs774362814 |
791 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759533428 CA4855858 |
792 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1803184 CA184981753 |
793 | S>F | No |
ClinGen Ensembl |
|
|
rs775212549 CA4855857 |
794 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 796 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 797 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4855855 rs745564919 |
799 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457756611 CA371928254 |
800 | P>S | No |
ClinGen gnomAD |
|
|
rs780858959 CA4855854 |
801 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA371928239 rs756880345 |
802 | N>I | No |
ClinGen gnomAD |
|
|
rs61740048 CA4855853 |
802 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA184981752 rs756880345 |
802 | N>S | No |
ClinGen gnomAD |
|
|
rs779465029 CA4855851 |
803 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773834932 CA184981751 |
805 | S>N | No |
ClinGen Ensembl |
|
|
CA4855849 rs755505037 |
805 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1308963661 CA371928215 |
806 | C>R | No |
ClinGen gnomAD |
|
|
rs1563657518 CA371928183 |
808 | S>N | No |
ClinGen Ensembl |
|
|
CA4855829 rs780642132 |
808 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4855828 rs756479543 |
810 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4855826 rs200596734 |
812 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752269097 CA4855825 |
816 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1485168342 CA371928120 |
817 | E>G | No |
ClinGen TOPMed |
|
|
CA184981166 rs897011695 |
817 | E>Q | No |
ClinGen TOPMed |
|
|
CA371928108 rs1289779380 |
819 | L>F | No |
ClinGen gnomAD |
|
|
CA371928089 rs1419506312 |
821 | K>R | No |
ClinGen gnomAD |
|
|
rs751624004 CA4855824 |
822 | M>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 827 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4855821 rs752514086 |
828 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752514086 CA371928043 |
828 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759316715 CA4855819 |
828 | R>H | Variant assessed as Somatic; 9.308e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4855820 rs759316715 |
828 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 828 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770974534 CA184981165 |
830 | I>T | No |
ClinGen gnomAD |
|
|
rs1262730155 CA371928032 |
830 | I>V | No |
ClinGen gnomAD |
|
|
CA371928017 rs1379067392 |
832 | H>Y | No |
ClinGen TOPMed |
|
|
CA4855816 rs760369800 |
834 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA371928005 rs1587299538 |
834 | T>P | No |
ClinGen Ensembl |
|
|
CA4855817 rs760369800 |
834 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs772940656 CA4855814 |
838 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4855813 rs771443401 |
840 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373140607 CA371927947 |
842 | T>I | No |
ClinGen gnomAD |
|
|
CA4855812 rs747697444 |
842 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs775801866 CA371927940 |
843 | S>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000963494 CA4855810 rs61738778 |
844 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA184981163 rs755949845 |
844 | R>H | No |
ClinGen gnomAD |
|
|
CA371927900 rs1587299152 |
849 | I>T | No |
ClinGen Ensembl |
|
|
CA4855808 rs187870139 |
859 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4855806 rs529559244 CA371927826 |
860 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1170849988 CA371927832 |
860 | E>K | No |
ClinGen gnomAD |
|
|
CA371927824 rs1373761372 |
861 | S>G | No |
ClinGen gnomAD |
|
|
rs377163358 CA4855803 |
862 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765158251 CA4855802 |
863 | I>F | No |
ClinGen ExAC gnomAD |
No associated diseases with Q13822
7 regional properties for Q13822
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Somatomedin B domain | 55 - 98 | IPR001212-1 |
| domain | Somatomedin B domain | 99 - 143 | IPR001212-2 |
| domain | DNA/RNA non-specific endonuclease | 612 - 845 | IPR001604 |
| domain | Somatomedin B domain, chordata | 54 - 67 | IPR020436-1 |
| domain | Somatomedin B domain, chordata | 72 - 83 | IPR020436-2 |
| domain | Somatomedin B domain, chordata | 84 - 95 | IPR020436-3 |
| domain | Extracellular Endonuclease, subunit A | 615 - 845 | IPR020821 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.4.39 | Phosphoric diester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| alkylglycerophosphoethanolamine phosphodiesterase activity | Catalysis of the reaction: H2O + 1-alkyl-sn-glycero-3-phosphoethanolamine = ethanolamine + 1-alkyl-sn-glycerol 3-phosphate. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| dinucleotide phosphatase activity | Catalysis of the reaction: a dinucleotide + H2O = 2 mononucleotides. |
| hydrolase activity | Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. |
| lysophospholipase activity | Catalysis of the reaction: 2-lysophosphatidylcholine + H2O = glycerophosphocholine + a carboxylate. |
| nucleic acid binding | Binding to a nucleic acid. |
| phosphodiesterase I activity | Catalysis of the sequential hydrolytic removal of 5'-nucleotides from the 3'-hydroxy termini of 3'-hydroxy-terminated oligonucleotides. |
| polysaccharide binding | Binding to a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. |
| scavenger receptor activity | Combining with any modified low-density lipoprotein (LDL) or other polyanionic ligand and delivering the ligand into the cell via endocytosis. Ligands include acetylated and oxidized LDL, Gram-positive and Gram-negative bacteria, apoptotic cells, amyloid-beta fibrils, and advanced glycation end products (AGEs). |
| zinc ion binding | Binding to a zinc ion (Zn). |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| cell motility | Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. |
| chemotaxis | The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| phosphatidylcholine catabolic process | The chemical reactions and pathways resulting in the breakdown of phosphatidylcholines, any of a class of glycerophospholipids in which the phosphatidyl group is esterified to the hydroxyl group of choline. |
| phospholipid catabolic process | The chemical reactions and pathways resulting in the breakdown of phospholipids, any lipid containing phosphoric acid as a mono- or diester. |
| positive regulation of epithelial cell migration | Any process that activates or increases the frequency, rate or extent of epithelial cell migration. |
| positive regulation of lamellipodium morphogenesis | Any process that activates or increases the frequency, rate or extent of lamellipodium morphogenesis. |
| positive regulation of peptidyl-tyrosine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine. |
| regulation of angiogenesis | Any process that modulates the frequency, rate or extent of angiogenesis. |
| regulation of cell migration | Any process that modulates the frequency, rate or extent of cell migration. |
| sphingolipid catabolic process | The chemical reactions and pathways resulting in the breakdown of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MARRSSFQSC | QIISLFTFAV | GVNICLGFTA | HRIKRAEGWE | EGPPTVLSDS | PWTNISGSCK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GRCFELQEAG | PPDCRCDNLC | KSYTSCCHDF | DELCLKTARG | WECTKDRCGE | VRNEENACHC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SEDCLARGDC | CTNYQVVCKG | ESHWVDDDCE | EIKAAECPAG | FVRPPLIIFS | VDGFRASYMK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KGSKVMPNIE | KLRSCGTHSP | YMRPVYPTKT | FPNLYTLATG | LYPESHGIVG | NSMYDPVFDA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TFHLRGREKF | NHRWWGGQPL | WITATKQGVK | AGTFFWSVVI | PHERRILTIL | QWLTLPDHER |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PSVYAFYSEQ | PDFSGHKYGP | FGPEMTNPLR | EIDKIVGQLM | DGLKQLKLHR | CVNVIFVGDH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GMEDVTCDRT | EFLSNYLTNV | DDITLVPGTL | GRIRSKFSNN | AKYDPKAIIA | NLTCKKPDQH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FKPYLKQHLP | KRLHYANNRR | IEDIHLLVER | RWHVARKPLD | VYKKPSGKCF | FQGDHGFDNK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VNSMQTVFVG | YGSTFKYKTK | VPPFENIELY | NVMCDLLGLK | PAPNNGTHGS | LNHLLRTNTF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RPTMPEEVTR | PNYPGIMYLQ | SDFDLGCTCD | DKVEPKNKLD | ELNKRLHTKG | STEERHLLYG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RPAVLYRTRY | DILYHTDFES | GYSEIFLMPL | WTSYTVSKQA | EVSSVPDHLT | SCVRPDVRVS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PSFSQNCLAY | KNDKQMSYGF | LFPPYLSSSP | EAKYDAFLVT | NMVPMYPAFK | RVWNYFQRVL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VKKYASERNG | VNVISGPIFD | YDYDGLHDTE | DKIKQYVEGS | SIPVPTHYYS | IITSCLDFTQ |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PADKCDGPLS | VSSFILPHRP | DNEESCNSSE | DESKWVEELM | KMHTARVRDI | EHLTSLDFFR |
| 850 | 860 | ||||
| KTSRSYPEIL | TLKTYLHTYE | SEI |