Q8N1K5
PR
Gene name |
THEMIS (C6orf190, C6orf207) |
Protein name |
Protein THEMIS |
Names |
Thymocyte-expressed molecule involved in selection |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:387357 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8N1K5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N1K5-F1 | Predicted | AlphaFoldDB |
618 variants for Q8N1K5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs369740999 CA3990679 |
2 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA147838602 rs750429003 |
2 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
COSM1229161 CA3990678 rs556127676 |
7 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
1000Genomes ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA3990677 rs267600796 |
8 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365595913 rs1468065109 |
9 | V>A | No |
TOPMed gnomAD ClinGen |
|
|
CA365595914 rs1468065109 |
9 | V>D | No |
TOPMed gnomAD ClinGen |
|
|
rs376099062 CA3990675 |
9 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA147838600 rs376099062 |
9 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3990674 rs747974194 |
10 | H>Y | No |
ExAC gnomAD ClinGen |
|
|
CA365595846 rs1412259939 |
16 | T>A | No |
gnomAD ClinGen |
|
|
rs1562330204 CA365595843 |
16 | T>I | No |
ClinGen Ensembl |
|
|
rs1427205452 CA365595825 |
18 | P>S | No |
ClinGen gnomAD |
|
|
rs750505215 CA3990668 |
20 | V>F | No |
ExAC gnomAD ClinGen |
|
|
rs1266267355 CA365595795 |
22 | E>Q | No |
gnomAD ClinGen |
|
|
rs201981880 CA3990667 |
23 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3990666 rs757809284 |
24 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs150100310 CA3990665 |
25 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs201310722 CA147838598 |
25 | A>V | No |
ClinGen Ensembl |
|
|
CA365595743 rs1455003790 |
28 | Y>* | No |
ClinGen gnomAD |
|
|
CA365595746 rs1313940532 |
28 | Y>C | No |
gnomAD ClinGen |
|
|
rs764007769 CA3990636 |
31 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA147833484 rs1008958585 |
32 | S>F | No |
TOPMed gnomAD ClinGen |
|
|
CA3990634 rs141623918 |
33 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3990635 rs141623918 |
33 | I>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3990632 rs746128016 |
36 | M>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
RCV000953967 CA3990633 rs148069630 |
36 | M>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA147833483 COSM1697903 rs868830272 |
38 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 38 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225073325 CA365594966 |
39 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778827895 CA147833482 |
40 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA365594958 rs778827895 |
40 | E>Q | No |
ClinGen gnomAD |
|
|
CA365594952 rs1229761442 |
41 | C>S | No |
gnomAD ClinGen |
|
|
rs909813432 CA147833481 |
41 | C>W | No |
Ensembl ClinGen |
|
|
rs1220122546 CA365594918 |
45 | T>I | No |
gnomAD ClinGen |
|
|
CA3990630 rs376807047 |
46 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA365594899 rs1330092199 |
48 | V>G | No |
ClinGen gnomAD |
|
|
CA365594888 rs1303369022 |
50 | K>T | No |
gnomAD ClinGen |
|
|
rs749376669 CA3990628 |
52 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA365594868 rs778470089 |
53 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs778470089 CA3990627 |
53 | G>D | No |
ExAC gnomAD ClinGen |
|
|
rs756655157 CA3990626 |
54 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421575631 CA365594862 |
54 | L>R | No |
ClinGen gnomAD |
|
|
rs572172163 CA3990625 |
56 | V>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3990624 rs572172163 |
56 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs369551049 CA147833479 |
58 | K>R | No |
TOPMed gnomAD ClinGen |
|
|
CA365594832 rs1361217289 |
59 | I>F | No |
ClinGen gnomAD |
|
|
rs1460735848 CA365594830 |
59 | I>T | No |
ClinGen TOPMed |
|
|
rs1378346191 CA365594822 |
60 | I>K | No |
ClinGen gnomAD |
|
|
CA365594820 rs1201822987 |
61 | A>T | No |
ClinGen gnomAD |
|
|
CA147833478 rs951154369 |
63 | I>T | No |
TOPMed ClinGen |
|
|
CA365594797 rs1383675588 |
64 | C>Y | No |
ClinGen TOPMed |
|
|
CA365594790 rs1471195787 |
65 | E>Q | No |
TOPMed ClinGen |
|
|
rs1251487444 CA365594778 |
66 | Q>H | No |
ClinGen gnomAD |
|
|
rs755238831 CA3990623 |
66 | Q>K | No |
ExAC gnomAD ClinGen |
|
|
rs573919818 CA3990622 |
67 | I>T | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
COSM109398 CA147833477 rs145798382 |
68 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA147833476 rs111339736 |
69 | G>C | No |
Ensembl ClinGen |
|
|
rs927595186 CA147833475 |
70 | C>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 71 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756817532 CA3990620 |
72 | S>T | No |
ExAC gnomAD ClinGen |
|
|
CA365594725 rs1283420042 |
75 | P>A | No |
gnomAD ClinGen |
|
|
CA3990619 rs753325089 |
75 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1283420042 CA365594724 |
75 | P>S | No |
ClinGen gnomAD |
|
|
CA3990617 rs760697836 |
78 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365594696 rs1442679451 |
79 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 80 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767362456 CA3990615 |
80 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759191168 CA3990614 |
81 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 83 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365594645 rs1292014927 |
85 | L>R | No |
ClinGen TOPMed |
|
|
CA3990597 rs759436529 |
85 | L>V | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 86 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3990595 rs766233894 |
88 | I>S | No |
ExAC gnomAD ClinGen |
|
|
CA3990596 rs766233894 |
88 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA365594607 rs1412007532 |
91 | D>G | No |
gnomAD ClinGen |
|
|
CA365594602 rs1211526753 |
92 | K>E | No |
ClinGen gnomAD |
|
|
rs763286393 CA365594591 |
93 | T>I | No |
ExAC gnomAD ClinGen |
|
|
rs763286393 CA3990594 |
93 | T>N | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 93 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3990593 rs773506474 |
96 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA3990590 rs201146745 |
98 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA147830601 rs1044988362 |
98 | M>T | No |
ClinGen TOPMed |
|
|
rs761795093 CA3990591 |
98 | M>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA147830600 rs948008097 |
100 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3990589 rs769021086 |
103 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA365594518 rs1359997709 |
105 | I>L | No |
ClinGen gnomAD |
|
|
rs917801425 CA147830599 |
105 | I>T | No |
TOPMed ClinGen |
|
|
rs267600795 CA147830598 |
106 | H>Y | No |
Ensembl ClinGen |
|
|
rs1056302069 CA147830597 |
107 | I>V | No |
TOPMed ClinGen |
|
|
CA147830596 rs199738235 |
108 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs747415731 CA3990588 |
110 | S>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3990587 rs780429903 |
110 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 110 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3990585 rs775711554 |
111 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365594482 rs1562285613 |
111 | R>T | No |
Ensembl ClinGen |
|
|
rs747602661 CA3990582 |
116 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365594438 rs1387546937 |
117 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3990581 rs144736833 |
118 | Y>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA147830595 rs954816406 |
118 | Y>N | No |
ClinGen Ensembl |
|
|
CA147830594 rs144736833 |
118 | Y>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA365594432 rs867294520 |
119 | H>N | No |
gnomAD ClinGen |
|
|
COSM461909 CA147830593 rs867294520 |
119 | H>Y | cervix Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA365594423 rs1418106455 |
120 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 121 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365594414 rs1186629275 |
121 | K>T | No |
ClinGen gnomAD |
|
|
rs1414098458 CA365594405 |
122 | D>G | No |
ClinGen TOPMed |
|
|
CA3990578 rs766287144 |
125 | L>V | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 126 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490452296 CA365594382 |
126 | E>K | No |
gnomAD ClinGen |
|
|
rs140613393 CA3990577 |
127 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1296300451 CA365594347 |
131 | K>E | No |
gnomAD ClinGen |
|
|
rs1411036136 CA365594337 |
132 | Q>* | No |
ClinGen TOPMed |
|
|
CA365594329 rs1307895330 |
133 | G>C | No |
ClinGen TOPMed |
|
|
CA3990575 rs572006460 |
133 | G>D | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA365594328 rs572006460 |
133 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762001310 CA3990574 |
134 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1274480803 CA365594313 |
135 | Q>H | No |
TOPMed gnomAD ClinGen |
|
|
CA147830592 rs765387427 |
135 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs1405822056 CA365594308 |
136 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1276243548 CA365594300 |
137 | M>R | No |
ClinGen TOPMed |
|
|
CA365594304 rs1217088830 |
137 | M>V | No |
ClinGen TOPMed |
|
|
rs776542931 CA3990573 |
140 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3990571 rs761195269 |
141 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3990572 rs149783397 |
141 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3990570 rs772433788 |
143 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365594260 rs1453146342 |
143 | E>G | No |
TOPMed ClinGen |
|
|
rs377338346 CA3990568 |
144 | I>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs772979607 CA3990567 |
145 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3990566 rs769313419 |
145 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs780586135 CA3990564 |
146 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs780586135 CA365594243 |
146 | G>E | No |
ExAC gnomAD ClinGen |
|
|
rs1480589130 CA365594246 |
146 | G>R | No |
gnomAD ClinGen |
|
|
CA3990563 COSM1073050 rs754477720 |
147 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1190655101 CA365594236 |
147 | E>D | No |
ClinGen gnomAD |
|
|
CA365594228 rs1480233302 |
148 | I>M | No |
ClinGen gnomAD |
|
|
CA3990561 rs759891900 |
149 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs560042383 CA3990562 |
149 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365594216 rs1310485703 |
150 | V>A | No |
ClinGen gnomAD |
|
|
rs1460088691 CA365594210 |
151 | S>T | No |
ClinGen TOPMed |
|
|
CA365594206 rs1282779793 |
152 | C>S | No |
gnomAD ClinGen |
|
|
CA365594194 rs1224303823 |
153 | A>V | No |
ClinGen gnomAD |
|
|
CA365594188 rs1347655486 |
154 | V>A | No |
ClinGen gnomAD |
|
|
rs1583325001 CA365594178 |
156 | R>K | No |
ClinGen Ensembl |
|
|
rs1256292703 CA365594169 |
157 | N>S | No |
gnomAD ClinGen |
|
|
rs750163137 CA3990559 |
158 | H>N | No |
ExAC gnomAD ClinGen |
|
|
rs140922989 CA3990558 |
158 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3990557 rs140922989 |
158 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1430412614 CA365594159 |
159 | Q>E | No |
ClinGen TOPMed |
|
|
rs906995258 CA147830590 |
160 | T>A | No |
Ensembl ClinGen |
|
|
CA365594121 rs1168543165 |
164 | N>T | No |
ClinGen TOPMed |
|
|
rs1465022591 CA365594108 |
166 | P>S | No |
gnomAD ClinGen |
|
|
rs1356911074 CA365594103 |
167 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 168 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1175119698 CA365594087 |
169 | Q>R | No |
ClinGen gnomAD |
|
|
CA3990555 rs141326956 |
170 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365594068 COSM1440318 rs1179637971 |
172 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA365594050 rs1330881046 |
174 | Y>C | No |
TOPMed ClinGen |
|
|
rs776046220 CA3990552 |
175 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3990551 rs768001727 |
176 | C>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3990550 rs759946621 |
177 | E>G | No |
ExAC gnomAD ClinGen |
|
|
rs369120459 CA3990549 |
179 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365594010 rs1012284928 |
180 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1012284928 CA147830588 |
180 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs537149882 COSM167562 CA3990548 |
180 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1191991140 CA365593982 |
184 | L>Q | No |
TOPMed ClinGen |
|
|
rs768345674 CA3990545 COSM72972 |
184 | L>V | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3990544 rs746503374 |
185 | K>N | No |
ExAC gnomAD ClinGen |
|
|
CA365593972 rs1335416871 |
186 | E>* | No |
ClinGen gnomAD |
|
|
rs1450191423 CA365593967 |
186 | E>D | No |
TOPMed ClinGen |
|
|
CA365593961 rs1188058375 |
187 | I>M | No |
ClinGen TOPMed |
|
|
CA3990543 rs780189320 |
187 | I>T | No |
ExAC gnomAD ClinGen |
|
|
CA147830586 rs929865179 |
188 | V>A | No |
TOPMed ClinGen |
|
| TCGA novel | 192 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407742878 CA365593907 |
195 | N>D | No |
ClinGen gnomAD |
|
|
CA365593890 rs199696364 |
197 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3990541 rs199696364 |
197 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1333301048 CA365593872 |
200 | V>A | No |
gnomAD ClinGen |
|
|
rs1233488292 COSM3719318 CA365593876 |
200 | V>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3990540 CA3990539 rs757020706 |
201 | N>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3990538 rs754013154 |
202 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs756246058 CA3990536 |
207 | N>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1184199219 CA365593828 |
207 | N>S | No |
gnomAD ClinGen |
|
|
CA3990535 rs147510916 COSM1716023 |
208 | K>E | small_intestine [Cosmic] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA365593796 rs768055257 |
211 | S>* | No |
ExAC gnomAD ClinGen |
|
|
CA3990534 rs768055257 |
211 | S>L | No |
ExAC gnomAD ClinGen |
|
|
CA3990533 rs759978898 |
212 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759978898 CA147830585 |
212 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs766654832 CA3990531 |
214 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1359240718 CA365593774 |
215 | F>S | No |
ClinGen gnomAD |
|
|
CA3990529 rs768399080 |
216 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3990528 rs768399080 |
216 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 217 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144817690 CA3990526 |
219 | F>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs768280784 CA3990525 |
220 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147830584 rs768280784 |
220 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3990523 rs778845824 |
221 | G>D | No |
ExAC gnomAD ClinGen |
|
|
CA365593737 rs1554232101 |
221 | G>S | No |
ClinGen Ensembl |
|
|
CA365593727 rs1562285009 |
222 | T>I | No |
ClinGen Ensembl |
|
|
rs1164102563 CA365593691 |
228 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3990520 rs778021060 |
229 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs779700839 CA147830583 |
232 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA147830581 rs267600794 |
233 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA147830582 rs267600794 |
233 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3990518 rs752880675 |
233 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365593657 rs267600794 |
233 | G>V | No |
TOPMed gnomAD ClinGen |
|
|
CA3990517 rs781258490 |
234 | V>M | No |
ExAC gnomAD ClinGen |
|
|
rs755014751 CA3990516 |
235 | M>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs752070453 CA3990515 |
236 | K>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1403721103 CA365593635 |
237 | F>L | No |
TOPMed ClinGen |
|
|
CA147828797 rs868167768 COSM1073044 |
238 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
Ensembl ClinGen cosmic curated NCI-TCGA |
|
CA365593617 rs1448509570 |
238 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA3990491 rs767186992 |
239 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1283614254 CA365593612 |
239 | K>Q | No |
gnomAD ClinGen |
|
|
CA3990490 rs759019554 |
240 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3990488 rs765769564 |
242 | I>T | No |
ExAC ClinGen |
|
|
CA3990489 rs371584445 |
242 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA147828796 rs891697397 |
243 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3990487 rs368013855 COSM285706 |
243 | R>H | large_intestine [Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA147828795 rs368013855 |
243 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA365593584 rs1205103282 |
244 | I>V | No |
TOPMed ClinGen |
|
|
rs1174405881 CA365593576 |
245 | L>F | No |
gnomAD ClinGen |
|
| TCGA novel | 245 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3990485 rs377547658 |
247 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA147828794 rs377547658 |
247 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365593557 rs1562275528 |
248 | L>P | No |
Ensembl ClinGen |
|
|
CA365593549 rs1583307589 |
249 | D>E | No |
Ensembl ClinGen |
|
|
CA365593544 rs1188697645 |
250 | V>G | No |
TOPMed ClinGen |
|
|
rs1201939473 CA365593547 |
250 | V>I | No |
ClinGen gnomAD |
|
|
CA365593541 COSM1073042 rs373934545 |
251 | E>K | endometrium Variant assessed as Somatic; 4.75e-05 impact. breast [Cosmic, NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs373934545 CA3990483 |
251 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149465286 CA3990482 |
252 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1440083360 CA365593517 |
254 | D>G | No |
gnomAD ClinGen |
|
|
rs969363416 CA147828793 |
255 | I>V | No |
TOPMed ClinGen |
|
|
CA365593503 rs1456277420 |
256 | T>S | No |
TOPMed ClinGen |
|
|
CA365593501 rs1252001200 |
257 | D>Y | No |
ClinGen gnomAD |
|
|
rs747157324 CA3990481 |
258 | S>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1225003741 CA365593475 CA365593474 |
260 | D>E | No |
ClinGen gnomAD |
|
|
rs1049532553 CA365593480 |
260 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA147828792 rs1049532553 COSM1440316 |
260 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA365593472 rs1348246133 |
261 | A>T | No |
ClinGen gnomAD |
|
|
rs758351881 CA3990479 |
261 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3990478 rs369097146 |
262 | N>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1353313411 CA365593450 |
264 | F>V | No |
ClinGen TOPMed |
|
|
CA365593432 rs1413219517 |
266 | Q>H | No |
ClinGen TOPMed |
|
|
CA365593428 rs1371988787 |
267 | L>P | No |
Ensembl ClinGen |
|
|
CA365593429 rs1337466750 |
267 | L>V | No |
gnomAD ClinGen |
|
|
CA365593413 rs1562275371 |
269 | S>L | No |
Ensembl ClinGen |
|
|
rs1407013076 CA365593409 |
270 | T>I | No |
ClinGen gnomAD |
|
|
CA365593399 rs1357450889 |
271 | E>D | No |
gnomAD ClinGen |
|
|
rs754236345 CA365593396 |
272 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs757756359 CA365593398 |
272 | D>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs757756359 CA3990476 |
272 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754236345 CA3990475 |
272 | D>V | No |
ExAC gnomAD ClinGen |
|
|
CA365593397 rs757756359 COSM164898 |
272 | D>Y | Variant assessed as Somatic; impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs767119746 CA3990474 |
276 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3990473 rs751127313 |
277 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3990472 rs751127313 |
277 | T>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3990471 rs543803228 |
278 | S>G | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA3990470 rs772972761 |
279 | K>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs772972761 CA365593351 |
279 | K>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3990468 rs765135523 |
280 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3990469 rs773188610 |
280 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA147828790 rs61743967 |
281 | F>I | No |
ClinGen Ensembl |
|
|
CA365593323 rs1444953923 |
283 | I>T | No |
gnomAD ClinGen |
|
|
CA3990466 rs776518917 |
283 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs11968051 CA147828788 VAR_027846 |
284 | V>G | No |
Ensembl ClinGen UniProt dbSNP |
|
|
rs576509982 CA147828789 |
284 | V>M | No |
ClinGen 1000Genomes |
|
|
CA365593311 rs1283211324 |
285 | T>N | No |
gnomAD ClinGen |
|
|
CA3990465 rs768285653 |
286 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA365593309 rs1224141028 |
286 | E>K | No |
gnomAD ClinGen |
|
|
CA3990464 rs760964090 |
288 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365593277 rs1418089731 |
290 | A>V | No |
ClinGen TOPMed |
|
|
rs775509258 CA3990463 |
291 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1388326811 CA365593271 |
292 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3990461 rs369941356 |
293 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
rs189804796 CA3990462 |
293 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC gnomAD ClinGen NCI-TCGA |
|
rs779613898 CA3990460 |
294 | N>S | No |
ExAC gnomAD ClinGen |
|
|
rs1428845405 CA365593248 |
295 | H>R | No |
ClinGen gnomAD |
|
|
rs771536300 CA3990459 |
296 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA365593238 rs1402797733 |
297 | P>S | No |
gnomAD ClinGen |
|
|
CA365593233 rs1373437111 |
298 | Q>E | No |
TOPMed ClinGen |
|
|
CA365593228 rs1163477503 |
298 | Q>H | No |
ClinGen gnomAD |
|
|
CA365593225 rs1445788173 |
299 | S>G | No |
gnomAD ClinGen |
|
|
rs778226257 CA3990457 |
299 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365593218 rs1583307183 |
300 | I>V | No |
ClinGen Ensembl |
|
|
rs756380182 COSM594056 CA3990456 |
302 | Q>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA365593202 rs1474188627 |
302 | Q>R | No |
TOPMed gnomAD ClinGen |
|
|
CA365593198 rs1216147063 |
303 | P>T | No |
gnomAD ClinGen |
|
|
rs1025833517 CA147828786 |
304 | G>R | No |
ClinGen TOPMed |
|
|
CA147828785 rs996074547 |
305 | K>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA365593175 rs1562275093 |
306 | T>I | No |
ClinGen Ensembl |
|
|
CA365593178 rs1289387144 |
306 | T>P | No |
ClinGen gnomAD |
|
|
CA3990454 rs779555672 |
307 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs375075404 CA3990452 |
308 | V>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs375075404 CA3990453 |
308 | V>E | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1212899144 CA365593154 |
310 | H>R | No |
gnomAD ClinGen |
|
|
CA365593148 rs1270955033 |
311 | K>E | No |
ClinGen gnomAD |
|
|
rs1346278610 CA365593142 |
311 | K>N | No |
ClinGen TOPMed |
|
|
CA147828783 rs960070469 |
312 | K>M | No |
Ensembl ClinGen |
|
|
CA365593136 rs1207756130 |
312 | K>N | No |
ClinGen TOPMed |
|
|
rs761759654 CA3990450 |
316 | S>L | No |
ExAC gnomAD ClinGen |
|
|
rs764684634 CA3990451 |
316 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1039868386 CA147828782 |
318 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs371915552 CA3990449 |
318 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1039868386 CA365593100 |
318 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA365593089 rs1193699667 |
320 | A>T | No |
ClinGen TOPMed |
|
|
CA147828781 rs890814627 |
321 | S>L | No |
ClinGen TOPMed |
|
|
CA147828780 rs1050720761 |
323 | I>V | No |
TOPMed ClinGen |
|
|
CA365593060 rs1192421014 |
324 | R>I | No |
TOPMed ClinGen |
|
|
CA365593048 rs1393221618 |
326 | N>D | No |
ClinGen TOPMed |
|
|
CA365593033 rs1451194273 |
328 | P>A | No |
ClinGen TOPMed |
|
|
CA3990447 rs185187807 |
329 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3990446 rs760383494 |
329 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3990445 rs775840336 |
330 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198429795 CA365593013 COSM1173177 |
331 | H>Y | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 332 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 334 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441762110 CA365592978 |
336 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 336 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3990442 rs772403889 COSM1545031 |
336 | T>N | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs759733151 CA3990441 |
337 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs774607907 CA3990440 |
338 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA365592926 rs1216504882 |
343 | K>R | No |
ClinGen gnomAD |
|
|
CA365592920 rs1343876032 |
344 | R>Q | No |
ClinGen gnomAD |
|
|
rs1282973546 COSM229501 CA365592913 |
345 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs370867739 CA147828777 |
346 | P>L | No |
gnomAD ClinGen |
|
|
rs370867739 CA147828778 |
346 | P>Q | No |
gnomAD ClinGen |
|
|
CA147828776 rs535706692 |
348 | E>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs749819861 CA3990438 |
349 | F>L | No |
ExAC gnomAD ClinGen |
|
|
rs1307256677 CA365592891 |
349 | F>Y | No |
ClinGen TOPMed |
|
|
rs1426791292 CA365592880 |
351 | T>A | No |
ClinGen gnomAD |
|
|
rs200529297 CA365592878 |
351 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3172140 rs200529297 CA3990436 |
351 | T>M | Variant assessed as Somatic; 0.0006937 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA365592866 rs1480640574 |
353 | Y>C | No |
ClinGen gnomAD |
|
|
CA3990435 rs748436522 |
354 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250529542 CA365592855 |
355 | L>I | No |
TOPMed ClinGen |
|
|
rs970535456 CA147828775 |
356 | E>V | No |
Ensembl ClinGen |
|
|
CA3990434 rs779794499 |
357 | I>T | No |
ExAC gnomAD ClinGen |
|
|
rs1233460794 CA365592828 |
359 | K>R | No |
ClinGen gnomAD |
|
|
CA3990432 rs750026663 |
360 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA365592797 rs1426487776 |
363 | E>V | No |
ClinGen TOPMed |
|
|
CA365592792 rs1224397216 |
364 | P>T | No |
gnomAD ClinGen |
|
|
CA147828772 rs748197067 |
367 | V>G | No |
ClinGen Ensembl |
|
|
CA3990428 rs763925728 |
367 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs763925728 CA3990429 |
367 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3990425 rs767384355 |
368 | V>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1437958770 CA365592759 |
369 | A>V | No |
ClinGen TOPMed |
|
|
rs140826347 CA3990423 |
372 | A>E | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs140826347 CA365592742 |
372 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs144830633 CA3990424 |
372 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3990421 rs202139628 |
374 | H>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs148334627 CA147828771 |
375 | S>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA365592718 rs1232300694 |
376 | P>A | No |
ClinGen TOPMed |
|
|
rs1165254428 CA365592711 |
377 | H>P | No |
ClinGen Ensembl |
|
|
CA365592697 rs1379109396 |
379 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3990420 rs773814222 |
379 | K>N | No |
ExAC gnomAD ClinGen |
|
|
CA365592689 rs1418368611 |
380 | L>R | No |
ClinGen gnomAD |
|
|
CA365592679 rs1408607264 |
382 | S>P | No |
gnomAD ClinGen |
|
|
CA3990419 rs770166171 |
383 | V>I | No |
ExAC TOPMed ClinGen |
|
|
rs558306325 CA3990418 |
384 | S>T | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA365592660 rs1484817925 |
385 | V>D | No |
ClinGen TOPMed |
|
|
CA3990416 rs202107812 |
386 | G>E | No |
ClinGen ExAC |
|
|
CA147828769 rs866024844 |
388 | Q>* | No |
ClinGen Ensembl |
|
|
rs1259265305 CA365592640 |
388 | Q>H | No |
gnomAD ClinGen |
|
|
rs756850708 CA3990413 |
389 | F>V | No |
ExAC gnomAD ClinGen |
|
|
rs777808391 CA365592623 |
391 | V>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs777808391 CA3990411 |
391 | V>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA147828768 rs932441431 |
391 | V>L | No |
gnomAD ClinGen |
|
|
rs754021760 CA365592614 |
393 | Q>E | No |
ClinGen gnomAD |
|
|
CA147828767 rs754021760 |
393 | Q>K | No |
gnomAD ClinGen |
|
|
rs1335506640 CA365592599 |
395 | E>K | No |
gnomAD ClinGen |
|
|
CA3990410 rs756040135 |
396 | T>A | No |
ExAC gnomAD ClinGen |
|
|
CA365592591 rs1403938167 |
396 | T>K | No |
gnomAD ClinGen |
|
|
CA365592589 rs1403938167 |
396 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA147828766 rs369658134 |
397 | T>I | No |
ClinGen ESP |
|
|
rs752634912 CA365592574 |
399 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752634912 CA3990409 |
399 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562274477 CA365592522 |
406 | K>I | No |
ClinGen Ensembl |
|
|
CA3990405 rs766682535 |
406 | K>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA365592520 rs1159860023 |
407 | V>M | No |
ClinGen TOPMed |
|
| rs1425728909 | 407 | V>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259884368 CA365592512 |
408 | V>M | No |
gnomAD ClinGen |
|
|
CA365592504 rs1204814320 |
409 | N>S | No |
ClinGen gnomAD |
|
|
CA3990402 rs143299852 |
410 | V>D | No |
ESP ExAC gnomAD ClinGen |
|
|
CA3990403 rs763130834 COSM1736283 |
410 | V>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3990400 rs777055639 |
411 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147828765 rs898665069 |
411 | L>P | No |
TOPMed ClinGen |
|
|
CA3990399 rs777055639 |
411 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA365592492 rs1244857367 |
412 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365592494 rs1244857367 |
412 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3990398 rs769075518 |
413 | C>S | No |
ExAC gnomAD ClinGen |
|
|
rs868305629 CA147828764 |
414 | E>* | No |
TOPMed ClinGen |
|
|
CA147828763 rs1006658285 |
414 | E>V | No |
TOPMed ClinGen |
|
|
CA3990395 rs200995834 |
416 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1315123660 CA365592459 |
417 | L>I | No |
ClinGen TOPMed |
|
| TCGA novel | 418 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365592451 rs1422623174 |
418 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3990393 rs374014918 |
419 | K>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs374014918 CA3990394 |
419 | K>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs200030618 CA3990392 |
420 | S>Y | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs566681397 CA3990391 |
421 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365592432 rs566681397 |
421 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3990390 rs142642838 |
424 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3990389 rs748106119 |
424 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs754864191 CA3990387 |
426 | L>F | No |
ExAC gnomAD ClinGen |
|
|
rs980494348 CA147828760 |
428 | L>S | No |
TOPMed gnomAD ClinGen |
|
|
rs980494348 CA365592392 |
428 | L>W | No |
TOPMed gnomAD ClinGen |
|
|
CA365592388 rs1157399680 |
429 | Y>H | No |
TOPMed gnomAD ClinGen |
|
|
rs751381119 CA3990386 |
430 | M>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA365592380 rs1212222047 |
430 | M>V | No |
gnomAD ClinGen |
|
|
CA365592370 rs1249128759 |
431 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 431 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA147828759 rs970063243 |
431 | E>Q | No |
ClinGen Ensembl |
|
|
rs758582495 CA3990384 |
432 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA365592358 rs1434524794 |
433 | G>D | No |
ClinGen TOPMed |
|
|
CA365592361 rs1279803297 |
433 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 434 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA147828757 rs927131539 |
435 | V>A | No |
TOPMed gnomAD ClinGen |
|
|
rs1344677692 CA365592346 |
435 | V>L | No |
ClinGen gnomAD |
|
|
CA3990383 rs750593313 |
436 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147828756 rs145198529 |
436 | E>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs775522402 CA147828755 |
439 | H>N | No |
ClinGen Ensembl |
|
|
rs754408985 CA3990380 |
439 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365592313 rs1220914155 |
440 | D>G | No |
TOPMed ClinGen |
|
|
CA3990379 rs764553952 |
441 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 443 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365592290 rs1265660870 |
443 | Q>L | No |
gnomAD ClinGen |
|
|
rs529862101 CA3990377 |
445 | P>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs772439500 CA3990376 |
446 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA147828753 rs867661439 |
448 | E>K | No |
ClinGen Ensembl |
|
|
COSM328198 rs762514682 CA3990375 |
449 | L>P | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3990374 rs772859940 |
450 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA147828752 rs955451827 |
453 | F>L | No |
ClinGen Ensembl |
|
|
CA3990372 rs568521541 |
454 | R>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3990371 rs781331744 |
454 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1322542357 CA365592203 |
456 | P>H | No |
gnomAD ClinGen |
|
|
CA365592207 rs1263588949 |
456 | P>T | No |
Ensembl ClinGen |
|
|
CA3990369 rs371783326 |
457 | F>V | No |
ESP ExAC gnomAD ClinGen |
|
|
rs898126133 CA147828751 |
458 | N>H | No |
Ensembl ClinGen |
|
|
CA365592192 rs1328160302 |
458 | N>S | No |
TOPMed gnomAD ClinGen |
|
|
rs74497542 CA3990367 |
459 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3990366 rs750670690 |
460 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3990365 rs141905910 CA365592179 |
460 | K>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1003963967 CA147828750 |
460 | K>R | No |
Ensembl ClinGen |
|
|
CA365592175 rs1469495993 |
461 | V>E | No |
ClinGen gnomAD |
|
|
rs1047913832 CA365592165 |
463 | V>I | No |
gnomAD ClinGen |
|
|
CA147828749 rs1047913832 |
463 | V>L | No |
gnomAD ClinGen |
|
|
CA3990364 rs781517469 |
465 | D>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3990363 rs147954282 |
467 | S>F | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs757885132 CA147828747 |
468 | I>M | No |
Ensembl ClinGen |
|
|
rs1029425565 CA147828748 |
468 | I>T | No |
ClinGen TOPMed |
|
|
rs761199506 CA3990361 |
468 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA365592121 rs1352361603 |
470 | E>G | No |
ClinGen TOPMed |
|
|
CA3990360 rs753134123 |
470 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA365592116 rs1239522905 |
471 | D>N | No |
gnomAD ClinGen |
|
|
CA365592107 rs1460598675 |
472 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA365592094 rs1220720885 |
474 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1220720885 CA365592096 |
474 | A>T | No |
gnomAD ClinGen |
|
| TCGA novel | 474 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772801915 CA3990357 |
475 | A>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1278884249 CA365592088 |
475 | A>S | No |
ClinGen gnomAD |
|
|
CA3990356 rs769470274 |
479 | L>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA365592048 rs1359989204 |
482 | E>K | No |
gnomAD ClinGen |
|
|
rs1336454358 CA365592037 |
483 | E>G | No |
ClinGen gnomAD |
|
|
CA3990353 rs776315693 |
483 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs768217039 CA3990352 |
484 | D>G | No |
ExAC gnomAD ClinGen |
|
|
rs914569544 CA147828745 |
485 | I>F | No |
ClinGen Ensembl |
|
|
CA3990350 rs746959181 |
485 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs914569544 CA365592025 |
485 | I>V | No |
ClinGen Ensembl |
|
|
rs780029653 CA365592021 |
486 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771829856 CA3990347 |
486 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780029653 CA3990349 |
486 | T>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA365592019 rs771829856 |
486 | T>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA147828744 rs891474030 |
487 | D>H | No |
TOPMed ClinGen |
|
|
CA3990345 rs745645464 |
489 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs990227309 CA147828743 |
490 | L>P | No |
Ensembl ClinGen |
|
|
rs779053579 CA3990341 |
491 | L>F | No |
ExAC gnomAD ClinGen |
|
|
rs139859697 CA3990340 |
491 | L>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs139859697 CA365591990 |
491 | L>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs749470786 CA3990339 |
492 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3990338 rs201323571 CA365591969 |
494 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176117973 CA365591974 |
494 | D>H | No |
gnomAD ClinGen |
|
|
CA3990337 rs756125412 |
495 | F>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3990336 rs753198700 |
496 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468574451 CA365591956 |
497 | N>H | No |
ClinGen gnomAD |
|
|
rs1562273698 CA365591952 |
497 | N>I | No |
ClinGen Ensembl |
|
|
rs955206010 CA365591948 |
498 | P>A | No |
ClinGen gnomAD |
|
|
rs955206010 CA147828741 |
498 | P>T | No |
ClinGen gnomAD |
|
|
CA365591943 rs1425984388 |
499 | T>P | No |
ClinGen gnomAD |
|
|
rs949877292 CA147828740 |
500 | E>A | No |
TOPMed gnomAD ClinGen |
|
|
rs949877292 CA147828739 |
500 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs755351126 CA3990334 |
500 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3990333 rs751979550 |
501 | C>S | No |
ExAC gnomAD ClinGen |
|
|
rs865965133 CA147828738 |
503 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs766814190 CA3990332 |
504 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA147828736 rs917048654 |
505 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
COSM1697889 rs868678386 CA147828737 |
505 | P>S | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA365591898 rs1337768228 COSM740250 |
506 | V>L | lung [Cosmic] | No |
TOPMed ClinGen cosmic curated |
|
CA365591890 rs1235351125 |
507 | G>D | No |
TOPMed ClinGen |
|
|
CA3990329 rs763756804 |
508 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA365591883 rs763756804 |
508 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1194146905 CA365591873 |
510 | N>D | No |
gnomAD ClinGen |
|
|
rs372635987 CA3990326 |
510 | N>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1289465678 CA365591853 |
513 | V>I | No |
ClinGen gnomAD |
|
|
CA3990325 rs199914510 |
516 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs150659844 CA147828735 |
517 | S>G | No |
ClinGen ESP |
|
| TCGA novel | 518 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3990323 rs368533847 |
520 | S>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA365591793 rs1286981313 |
521 | R>S | No |
TOPMed ClinGen |
|
|
rs749523900 CA3990321 |
522 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770643870 CA3990322 |
522 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA147828734 rs996737541 |
523 | A>T | No |
Ensembl ClinGen |
|
|
CA3990320 rs777955245 |
523 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1562273500 CA365591780 |
524 | E>* | No |
Ensembl ClinGen |
|
|
CA147828732 rs764902397 |
525 | P>Q | No |
gnomAD ClinGen |
|
|
CA147828731 rs764902397 |
525 | P>R | No |
ClinGen gnomAD |
|
|
CA3990318 rs748224926 |
525 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA147828733 rs748224926 |
525 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365591770 rs1188195309 |
526 | F>V | No |
TOPMed ClinGen |
|
|
rs1016603154 CA147828730 |
528 | V>I | No |
gnomAD ClinGen |
|
|
rs1016603154 CA365591759 |
528 | V>L | No |
ClinGen gnomAD |
|
|
rs755543363 CA3990316 |
529 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA365591743 rs1170997900 |
530 | T>N | No |
ClinGen gnomAD |
|
|
rs376358136 CA3990312 |
531 | L>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs758824851 CA3990313 |
531 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs775087506 CA3990309 |
532 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3990310 rs760152497 |
532 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1316028200 CA365591735 |
533 | E>K | No |
TOPMed ClinGen |
|
|
CA365591726 rs368547628 |
534 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368547628 CA3990306 |
534 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749074095 CA3990304 |
536 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA147828728 rs181749766 |
539 | Q>R | No |
ClinGen 1000Genomes |
|
|
rs770029951 CA3990302 |
540 | Y>D | No |
ExAC gnomAD ClinGen |
|
|
rs1439354729 CA365591669 |
542 | M>V | No |
ClinGen gnomAD |
|
|
CA3990300 rs781340308 |
543 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA3990299 rs768563536 |
543 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs747611832 CA3990298 |
544 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
COSM3393799 rs948988734 CA147828727 |
546 | Y>C | pancreas [Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated |
|
rs780704106 CA365591624 |
548 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3990297 rs780704106 |
548 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427149701 CA365591607 |
551 | S>A | No |
ClinGen gnomAD |
|
|
CA365591590 rs1282660506 |
553 | P>L | No |
ClinGen TOPMed |
|
|
CA147828726 COSM739291 rs999860117 |
554 | P>Q | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs999860117 CA365591586 |
554 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779371436 CA3990293 |
555 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ExAC ClinGen NCI-TCGA |
|
CA3990292 rs755822547 |
556 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs752223518 CA365591577 |
556 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3990290 rs752223518 |
556 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA365591573 rs1460176886 |
557 | P>S | No |
gnomAD ClinGen |
|
|
CA3990288 rs377676385 COSM1179305 |
558 | P>L | prostate [Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA365591550 rs1469606568 |
560 | H>Q | No |
TOPMed ClinGen |
|
|
rs1583305020 CA365591554 |
560 | H>Y | No |
Ensembl ClinGen |
|
|
CA147828724 rs914602220 |
561 | P>T | No |
ClinGen Ensembl |
|
|
rs766269410 CA3990285 |
562 | S>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3990286 rs751561724 |
562 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3990284 rs200347578 |
563 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA365591494 rs1403463329 |
569 | T>N | No |
gnomAD ClinGen |
|
|
rs1404210514 CA365591478 |
572 | T>N | No |
TOPMed ClinGen |
|
|
rs1435127621 CA365591463 |
574 | A>G | No |
TOPMed ClinGen |
|
|
CA147828723 rs1014089230 |
576 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs543892308 CA3990280 |
577 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs576573692 CA3990279 |
578 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC gnomAD ClinGen NCI-TCGA |
|
CA147828722 COSM271559 rs370574765 |
578 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP NCI-TCGA TOPMed gnomAD |
| TCGA novel | 579 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA147828720 rs921104466 |
580 | D>E | No |
ClinGen Ensembl |
|
|
CA365591430 rs1255697636 |
580 | D>N | No |
gnomAD ClinGen |
|
|
CA365591413 rs1484434861 |
583 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
| TCGA novel | 583 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3990275 RCV000909828 rs188932478 |
584 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs754605885 CA3990247 |
587 | R>C | No |
ExAC gnomAD ClinGen |
|
|
CA3990246 rs746600803 |
587 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3990245 rs570338622 |
588 | H>R | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs112573155 CA147817957 |
589 | H>P | No |
TOPMed ClinGen |
|
|
rs112573155 CA147817956 |
589 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3990242 rs555567289 COSM203529 |
590 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3990241 rs757127034 |
591 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA147817955 rs965778325 |
593 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs763910397 CA3990239 |
594 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3990238 rs373540072 |
597 | H>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1378687972 CA365591051 |
598 | P>S | No |
ClinGen gnomAD |
|
|
CA365591045 rs1175240763 |
599 | N>H | No |
TOPMed ClinGen |
|
|
CA365591035 rs1269428908 |
600 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA365591027 rs1480701195 |
601 | A>P | No |
TOPMed ClinGen |
|
|
rs139053644 CA3990237 |
601 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149528454 CA3990236 COSM1073033 |
604 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3990235 rs759683239 |
606 | K>E | No |
ExAC gnomAD ClinGen |
|
|
rs771316560 CA3990233 |
607 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs774958853 CA3990234 |
607 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs138041742 CA147817954 |
610 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3990231 rs375208111 |
610 | G>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3990232 rs138041742 |
610 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA147817953 rs138041742 |
610 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3990230 rs75834450 |
612 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1235397394 CA365590947 |
614 | D>V | No |
ClinGen gnomAD |
|
|
rs1441999623 CA365590944 |
615 | L>M | No |
ClinGen TOPMed |
|
|
CA365590941 rs1374677514 |
615 | L>S | No |
gnomAD ClinGen |
|
|
CA3990229 rs150338840 |
617 | D>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1447738168 CA365590916 |
619 | E>K | No |
ClinGen gnomAD |
|
|
rs1402704790 CA365590891 |
622 | R>G | No |
ClinGen gnomAD |
|
|
COSM1311538 rs373253093 CA147817952 |
623 | S>R | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs977724746 CA147817951 |
624 | N>K | No |
TOPMed ClinGen |
|
|
rs187644987 CA3990225 |
625 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745362791 CA3990224 |
625 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3990223 rs369312245 |
628 | T>I | No |
ClinGen ESP ExAC |
|
|
CA3990222 rs757173001 |
629 | A>G | No |
ExAC gnomAD ClinGen |
|
|
VAR_027847 CA3990221 rs675531 |
630 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs754668171 CA3990219 |
631 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763809411 CA3990220 |
631 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 633 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766431462 CA3990194 |
633 | T>I | No |
ExAC gnomAD ClinGen |
|
|
rs1398504573 CA365590359 |
634 | F>L | No |
ClinGen gnomAD |
|
|
rs1479878949 CA365590351 |
635 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3990193 rs763086490 |
637 | E>D | No |
ExAC gnomAD ClinGen |
|
|
CA365590290 rs1562205841 |
639 | H>R | No |
Ensembl ClinGen |
|
|
CA147816879 rs991503147 CA365590270 |
640 | Q>H | No |
TOPMed ClinGen |
|
|
rs1299328016 CA365590283 |
640 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs138390566 CA3990192 |
642 | K>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
No associated diseases with Q8N1K5
1 regional properties for Q8N1K5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Thioesterase domain | 155 - 228 | IPR006683 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| COP9 signalosome | A protein complex that catalyzes the deneddylation of proteins, including the cullin component of SCF ubiquitin E3 ligase; deneddylation increases the activity of cullin family ubiquitin ligases. The signalosome is involved in many regulatory process, including some which control development, in many species; also regulates photomorphogenesis in plants; in many species its subunits are highly similar to those of the proteasome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| negative T cell selection | The process of elimination of immature T cells which react strongly with self-antigens. |
| positive T cell selection | The process of sparing immature T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALSLEEFVH | SLDLRTLPRV | LEIQAGIYLE | GSIYEMFGNE | CCFSTGEVIK | ITGLKVKKII |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AEICEQIEGC | ESLQPFELPM | NFPGLFKIVA | DKTPYLTMEE | ITRTIHIGPS | RLGHPCFYHQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KDIKLENLII | KQGEQIMLNS | VEEIDGEIMV | SCAVARNHQT | HSFNLPLSQE | GEFYECEDER |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IYTLKEIVEW | KIPKNRTRTV | NLTDFSNKWD | STNPFPKDFY | GTLILKPVYE | IQGVMKFRKD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IIRILPSLDV | EVKDITDSYD | ANWFLQLLST | EDLFEMTSKE | FPIVTEVIEA | PEGNHLPQSI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LQPGKTIVIH | KKYQASRILA | SEIRSNFPKR | HFLIPTSYKG | KFKRRPREFP | TAYDLEIAKS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EKEPLHVVAT | KAFHSPHDKL | SSVSVGDQFL | VHQSETTEVL | CEGIKKVVNV | LACEKILKKS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YEAALLPLYM | EGGFVEVIHD | KKQYPISELC | KQFRLPFNVK | VSVRDLSIEE | DVLAATPGLQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LEEDITDSYL | LISDFANPTE | CWEIPVGRLN | MTVQLVSNFS | RDAEPFLVRT | LVEEITEEQY |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YMMRRYESSA | SHPPPRPPKH | PSVEETKLTL | LTLAEERTVD | LPKSPKRHHV | DITKKLHPNQ |
| 610 | 620 | 630 | 640 | ||
| AGLDSKVLIG | SQNDLVDEEK | ERSNRGATAI | AETFKNEKHQ | K |