Q8N427
PR
Gene name |
NME8 (SPTRX2, TXNDC3) |
Protein name |
Thioredoxin domain-containing protein 3 |
Names |
LIR-2, Leukocyte immunoglobulin-like receptor 2, CD85 antigen-like family member D, Immunoglobulin-like transcript 4, ILT-4, Monocyte/macrophage immunoglobulin-like receptor 10, MIR-10, NM23-H8, NME/NM23 family member 8, Spermatid-specific thioredoxin-2, Sptrx-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51314 |
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 Q8N427
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N427-F1 | Predicted | AlphaFoldDB |
561 variants for Q8N427
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001327575 rs1170478165 CA367218850 |
8 | V>D | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA157146637 rs934943362 RCV001237387 |
18 | S>N | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA367219108 rs1554360744 RCV000534537 |
26 | N>S | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4222038 RCV000468895 rs780172047 |
28 | G>C | Variant assessed as Somatic; 0.0 impact. Primary ciliary dyskinesia 6 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000645500 CA4222040 rs199920317 |
30 | T>A | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001421027 RCV000151565 RCV001651015 rs2722372 CA177498 RCV002381472 VAR_032948 |
43 | R>K | Primary ciliary dyskinesia Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1784427170 RCV001038083 |
60 | E>K | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000867933 rs541494396 CA4222102 |
75 | L>S | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002446823 rs142570057 RCV000459408 CA4222103 |
76 | Q>K | Primary ciliary dyskinesia Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4222106 rs771622383 RCV000797768 |
82 | C>S | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM187052 CA4222145 RCV002325351 RCV000685597 rs567620217 |
104 | P>L | Primary ciliary dyskinesia large_intestine Primary ciliary dyskinesia 6 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4222151 rs143447596 RCV000689530 |
115 | D>N | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA157152167 RCV002456430 rs968749440 RCV001319025 |
122 | A>G | Primary ciliary dyskinesia Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001232637 rs770842803 |
123 | G>C | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369201077 CA4222179 COSM1698577 RCV000458472 RCV000613297 |
134 | P>L | skin Primary ciliary dyskinesia 6 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4222192 rs199901385 RCV002341380 RCV000533754 COSM299591 |
152 | Q>* | Primary ciliary dyskinesia large_intestine endometrium Primary ciliary dyskinesia 6 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4222221 RCV001052348 rs760066403 |
156 | S>R | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs372584831 CA4222256 RCV000814569 |
177 | I>F | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs534679328 COSM1176522 CA4222274 RCV001235060 |
203 | R>Q | endometrium Primary ciliary dyskinesia 6 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs146777129 RCV000594581 RCV002356306 CA4222275 RCV001086415 |
204 | I>V | Primary ciliary dyskinesia Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA177504 rs10250905 RCV001513678 VAR_022766 RCV000151568 RCV001651016 RCV002362790 |
208 | C>R | Primary ciliary dyskinesia Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000820237 rs200582084 CA4222302 |
223 | Y>C | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001340177 CA157156459 rs747458162 |
236 | P>S | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA4222322 RCV000544108 RCV000253380 RCV002379079 rs139516225 |
247 | E>K | Primary ciliary dyskinesia Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199973571 RCV001039441 CA4222325 |
248 | P>H | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs201277639 RCV000691609 CA4222324 |
248 | P>T | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000558909 CA367223008 rs1554363589 |
250 | E>G | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001235061 rs553733754 CA4222335 |
258 | V>F | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA4222352 rs138867361 RCV002430047 RCV001247375 |
277 | Y>H | Primary ciliary dyskinesia Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA367223624 rs1583637336 RCV000807378 |
322 | L>P | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000815110 CA4222382 rs758607187 |
330 | R>K | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001230146 CA4222401 rs764183917 |
332 | D>G | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000464555 rs62001869 COSM1450591 RCV002426993 RCV000214231 RCV001707556 CA4222404 |
336 | R>H | Primary ciliary dyskinesia large_intestine central_nervous_system Primary ciliary dyskinesia 6 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4222405 rs62001869 RCV000687178 |
336 | R>P | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs62001870 RCV001668301 CA177508 RCV002354347 RCV000151570 RCV000457934 |
338 | I>T | Primary ciliary dyskinesia Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002327368 RCV001070975 rs202221051 CA4222454 |
390 | R>T | Primary ciliary dyskinesia Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA157131952 RCV000804008 rs778757785 |
411 | E>K | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs761626831 RCV000645501 CA4222487 RCV002449045 |
423 | M>I | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. Primary ciliary dyskinesia 6 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000003412 rs121918300 CA340053 RCV002444419 |
426 | L>* | Primary ciliary dyskinesia Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1785074705 RCV001068364 |
432 | Y>C | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA4222503 rs201867197 RCV000701400 CA157134673 |
447 | F>L | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen 1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV001205365 rs758258274 |
467 | E>missing | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002390428 rs147791304 RCV000473128 CA201290 RCV000175086 |
469 | I>L | Primary ciliary dyskinesia Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000155583 VAR_061898 CA183080 RCV002390353 RCV001668317 rs56128139 |
493 | I>T | Primary ciliary dyskinesia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002390553 RCV000249670 rs386712272 CA350453 RCV000206413 |
493 | I>T | Primary ciliary dyskinesia Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA4222547 rs148302107 RCV002391095 RCV001035679 |
507 | K>E | Primary ciliary dyskinesia Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001214138 CA157140327 rs957883475 |
521 | M>I | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
CA367217378 RCV000691729 rs1390857036 |
527 | N>D | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA4222574 RCV000806600 rs536891365 |
530 | A>P | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000862215 CA4222577 rs142525551 RCV002399862 |
534 | R>* | Primary ciliary dyskinesia Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001316448 rs142525551 CA4222578 |
534 | R>G | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4222579 RCV000687599 rs186068152 |
534 | R>Q | Variant assessed as Somatic; 0.0 impact. Primary ciliary dyskinesia 6 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001339343 rs1785238206 |
542 | E>Q | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002404490 RCV000545585 CA4222582 rs140494494 |
544 | A>T | Primary ciliary dyskinesia Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199621229 RCV000704499 CA4222586 |
548 | S>F | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA157140404 RCV000591747 rs772853800 RCV000559839 |
550 | D>Y | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA4222589 RCV000645499 rs145721687 |
553 | R>* | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003162927 RCV000645504 rs757432890 CA4222593 |
556 | F>I | Primary ciliary dyskinesia Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000464614 CA4222595 rs370146151 |
562 | K>E | Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002533087 RCV000728241 RCV001862140 COSM3942206 CA4222596 rs138317061 |
563 | N>K | oesophagus Primary ciliary dyskinesia 6 Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000175213 rs770045061 CA240918 RCV000685745 RCV002408759 |
577 | V>I | Primary ciliary dyskinesia Primary ciliary dyskinesia 6 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000703524 rs775868906 CA4222605 COSM1089451 RCV002397464 |
579 | N>D | Primary ciliary dyskinesia Variant assessed as Somatic; 0.0 impact. endometrium Primary ciliary dyskinesia 6 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA367218817 rs1176054382 |
3 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 5 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM303498 CA4222008 rs750045501 |
6 | R>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4222009 rs199576209 |
6 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322440406 CA367218844 |
7 | E>D | No |
ClinGen TOPMed |
|
|
CA367218838 rs1562826651 |
7 | E>Q | No |
ClinGen Ensembl |
|
|
CA4222012 rs373353542 |
9 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA4222015 rs369098657 |
11 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750902815 CA157146613 |
12 | T>A | No |
ClinGen Ensembl |
|
|
rs201220646 CA157146628 |
15 | N>S | No |
ClinGen Ensembl |
|
|
CA157146633 rs924858337 |
16 | N>S | No |
ClinGen Ensembl |
|
|
rs757570040 CA4222033 |
20 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA367219028 rs1234044623 |
21 | D>E | No |
ClinGen gnomAD |
|
|
CA367219017 rs1296812326 |
21 | D>V | No |
ClinGen gnomAD |
|
|
rs374040658 CA4222034 |
22 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 22 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750630112 CA157146675 |
25 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750630112 CA4222035 |
25 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4222036 rs756360013 |
25 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA658796920 rs1554360745 |
28 | G>DI | No |
ClinGen Ensembl |
|
|
rs200758390 CA4222063 |
32 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA367219248 rs1314343023 |
33 | D>H | No |
ClinGen gnomAD |
|
|
CA367219250 rs1314343023 |
33 | D>Y | No |
ClinGen gnomAD |
|
|
rs745571114 CA4222065 |
39 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4222066 rs769263780 |
41 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1327566528 CA367219395 |
42 | C>F | No |
ClinGen gnomAD |
|
|
CA367219408 rs2722372 |
43 | R>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772405642 CA4222068 |
45 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1198798369 CA367219444 |
46 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 46 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 47 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199848335 CA157146895 |
48 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4222070 rs760905416 |
49 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4222071 rs766786157 |
50 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1464535104 CA367219548 |
53 | K>R | No |
ClinGen gnomAD |
|
|
CA4222074 rs754089157 |
54 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1554360789 CA838191948 |
55 | E>* | No |
ClinGen TOPMed |
|
|
rs868708838 CA157146924 |
55 | E>K | No |
ClinGen Ensembl |
|
|
rs759876007 CA4222075 |
57 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367219615 rs180763598 |
57 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4222077 COSM139700 rs369542497 |
58 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA367219619 rs369542497 |
58 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777532091 CA4222078 |
60 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA367219671 rs1394867992 |
61 | I>F | No |
ClinGen TOPMed |
|
|
rs781008114 CA367219686 |
63 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200038015 CA4222082 |
63 | H>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs781008114 CA4222081 |
63 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs986529297 CA157146974 |
64 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1204637797 CA367219706 |
65 | A>V | No |
ClinGen TOPMed gnomAD |
|
| rs748684004 | 66 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779697883 CA4222084 |
66 | V>A | No |
ClinGen ExAC |
|
|
CA4222083 rs769884433 |
66 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4222100 rs755910817 |
67 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA367220093 rs1186107198 |
70 | D>N | No |
ClinGen gnomAD |
|
|
rs1394408948 CA367220107 |
71 | N>K | No |
ClinGen TOPMed |
|
|
CA4222101 rs779645085 |
72 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1460179248 CA367220142 |
77 | P>S | No |
ClinGen gnomAD |
|
|
rs747465574 CA4222104 |
80 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 80 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367220177 rs771622383 |
82 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA157150045 rs944902538 |
82 | C>Y | No |
ClinGen Ensembl |
|
|
rs746168002 CA367220192 |
84 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367220195 rs1156426402 |
84 | P>L | No |
ClinGen TOPMed |
|
|
rs746168002 CA4222108 |
84 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 85 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4222109 rs202034687 |
85 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367220206 rs1320187642 |
86 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 88 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4222140 rs139983071 |
92 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA157152082 rs1004372553 |
95 | I>V | No |
ClinGen Ensembl |
|
|
CA4222142 rs368696812 |
96 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 100 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1250574787 CA367221176 |
105 | L>F | No |
ClinGen gnomAD |
|
|
rs749602472 CA4222147 |
105 | L>P | No |
ClinGen ExAC |
|
|
rs1341606541 CA367221190 |
106 | V>A | No |
ClinGen TOPMed |
|
|
rs1016173782 CA157152123 |
107 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 108 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180093750 CA367221215 |
108 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4222148 rs768937346 |
109 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4222149 rs781738300 |
114 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs372631973 CA4222152 |
115 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868857499 CA157152158 |
116 | E>K | No |
ClinGen Ensembl |
|
|
CA4222153 rs760590328 |
117 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 119 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367221387 rs1478524167 |
121 | A>E | No |
ClinGen TOPMed |
|
|
CA157152172 rs968749440 |
122 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA367221407 rs776436705 |
123 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367221406 rs776436705 |
123 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4222154 rs770842803 |
123 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4222155 rs776436705 |
123 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759334409 CA4222156 |
125 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA367221434 rs1336163948 |
125 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA367221433 rs1336163948 |
125 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA367221441 COSM746985 rs1301137299 |
126 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM39554 CA4222157 RCV000599384 rs374907632 |
127 | R>* | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs151218163 CA4222158 COSM3638518 |
127 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4222159 rs762762070 |
129 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA367221492 rs1425615618 |
132 | E>D | No |
ClinGen TOPMed |
|
|
CA157153025 rs867960102 |
134 | P>S | No |
ClinGen Ensembl |
|
|
CA367221506 rs1162458243 |
135 | L>* | No |
ClinGen gnomAD |
|
|
CA367221520 rs761334758 |
137 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1042158253 CA157153037 |
137 | D>N | No |
ClinGen TOPMed |
|
|
rs761334758 CA4222181 |
137 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754343759 CA4222183 |
139 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383383745 CA367221545 |
141 | E>G | No |
ClinGen gnomAD |
|
|
rs755506966 CA4222184 |
141 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs944993603 CA157153065 |
144 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 145 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765575800 CA4222185 |
145 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA367221579 rs1231085711 |
146 | S>A | No |
ClinGen gnomAD |
|
|
rs143559107 CA4222187 |
147 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4222188 rs758769017 |
148 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777932801 CA4222189 |
148 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485219232 CA367221594 |
149 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA157153090 rs371342890 |
150 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4222191 rs757337877 |
150 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA4222190 rs371342890 |
150 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA367221609 rs1485430281 |
151 | V>F | No |
ClinGen gnomAD |
|
|
rs981266761 CA157153901 |
153 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA367221630 rs981266761 |
153 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771570015 CA4222219 |
154 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1298251284 CA367221655 |
156 | S>N | No |
ClinGen gnomAD |
|
|
CA4222223 COSM1739335 rs200290963 |
157 | I>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs200290963 CA4222222 |
157 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763491394 CA4222224 |
159 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs763491394 CA157153984 COSM3784073 |
159 | I>L | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs990060500 CA157153993 |
159 | I>T | No |
ClinGen Ensembl |
|
|
rs1204096636 CA367221678 |
160 | I>M | No |
ClinGen gnomAD |
|
|
rs764429331 CA4222225 |
160 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200863038 CA4222226 |
162 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200863038 CA367221691 |
162 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367221689 rs1279402229 |
162 | P>S | No |
ClinGen gnomAD |
|
|
CA4222228 rs767593869 |
163 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA4222229 rs750678432 |
165 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA367221705 rs1452567242 |
165 | V>M | No |
ClinGen gnomAD |
|
|
CA4222231 rs756237951 |
167 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 169 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367221743 rs1463820913 |
170 | V>D | No |
ClinGen gnomAD |
|
|
CA367221740 rs1355964205 |
170 | V>F | No |
ClinGen gnomAD |
|
| rs1167912395 | 170 | V>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780317892 CA4222232 |
175 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA4222255 rs372584831 |
177 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4222258 rs756844391 |
178 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4222259 rs199767578 |
178 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199767578 CA367221863 |
178 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756844391 CA4222257 |
178 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA367221868 rs1353847229 |
179 | K>E | No |
ClinGen gnomAD |
|
|
CA4222260 rs769366454 |
180 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779489509 CA4222261 |
181 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285700344 CA367221931 |
183 | I>N | No |
ClinGen gnomAD |
|
|
rs139055179 CA367221943 |
184 | I>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs773680993 CA4222264 |
184 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139055179 CA4222263 |
184 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1209588157 CA367221958 |
185 | E>G | No |
ClinGen gnomAD |
|
|
rs1489424511 CA367221974 |
186 | A>V | No |
ClinGen TOPMed |
|
|
rs761137724 CA4222265 |
187 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs766645748 CA4222266 |
188 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777026385 CA4222267 |
189 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201703314 CA4222269 |
189 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4222268 rs759642537 |
189 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs149877831 CA4222270 |
190 | T>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1420353131 CA367222147 |
199 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs144970701 CA4222271 |
201 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4222273 rs142023810 |
203 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA367222200 rs142023810 |
203 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367222205 rs534679328 |
203 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA157154994 rs754300578 |
204 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA4222276 rs754300578 |
204 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1281188163 CA367222217 |
205 | A>T | No |
ClinGen gnomAD |
|
|
CA4222290 rs751518399 |
208 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA4222291 rs751518399 COSM1231451 |
208 | C>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4222293 rs546529254 |
211 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 212 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353210288 CA367222770 |
212 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 212 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4222295 rs779582375 |
215 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1474558229 CA367222804 |
217 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4222297 rs146829478 |
217 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778378224 CA4222299 |
219 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs778378224 CA4222298 |
219 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs771393197 CA4222300 |
219 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA4222301 rs781733467 |
222 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA367222835 rs1396655500 |
222 | S>N | No |
ClinGen gnomAD |
|
|
rs769990827 CA4222303 |
224 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1324258329 CA367222853 |
225 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs143832670 CA157156430 |
226 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA4222304 rs367666545 |
227 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367222876 rs1280442318 |
229 | Q>R | No |
ClinGen gnomAD |
|
|
CA367222886 rs1383274957 |
231 | S>G | No |
ClinGen TOPMed |
|
|
CA4222305 rs371890607 |
231 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768771084 CA4222306 |
232 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 232 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774237316 CA4222307 |
233 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs761802616 CA4222308 |
234 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1287510405 CA367222915 |
235 | P>A | No |
ClinGen TOPMed |
|
|
rs557751451 CA4222309 |
235 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs866091840 CA157156461 |
236 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs866091840 CA367222922 |
236 | P>R | No |
ClinGen TOPMed |
|
|
CA4222313 rs753458140 |
238 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs766019144 CA4222312 |
238 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA367222938 rs1583632341 |
239 | E>A | No |
ClinGen Ensembl |
|
|
CA367222935 rs1458356924 |
239 | E>K | No |
ClinGen gnomAD |
|
|
CA4222315 rs778607368 |
241 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757897300 CA4222317 |
242 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4222318 rs781768255 |
243 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4222320 rs369365068 |
244 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs965048909 CA157156538 |
245 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4222327 rs773058604 |
250 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4222329 rs113330102 |
251 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201987014 CA4222331 |
251 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201987014 CA4222330 |
251 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 253 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs948721664 CA157156614 |
254 | D>Y | No |
ClinGen gnomAD |
|
|
CA157156621 rs867863283 |
255 | Q>* | No |
ClinGen Ensembl |
|
|
rs781400657 CA4222333 |
256 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781400657 CA367223046 |
256 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756469390 CA4222337 |
259 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA157156664 COSM116735 rs1044473414 |
259 | E>K | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA157156677 rs868314762 |
261 | Q>K | No |
ClinGen Ensembl |
|
|
rs780346927 CA4222338 |
261 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA367223080 rs755131627 |
262 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4222340 rs755131627 |
262 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866906346 CA157156729 |
263 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs191578224 CA4222342 |
265 | G>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1452505551 CA367223108 CA367223107 |
266 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA367223101 rs1483440031 |
266 | M>V | No |
ClinGen gnomAD |
|
|
rs1198921468 CA367223113 |
267 | M>R | No |
ClinGen TOPMed |
|
|
rs1479592634 CA367223135 |
270 | K>E | No |
ClinGen TOPMed |
|
|
rs1248320999 CA573960528 |
270 | K>T | No |
ClinGen gnomAD |
|
|
CA157156744 rs371341539 |
271 | Q>K | No |
ClinGen Ensembl |
|
|
rs918829851 CA157156754 |
271 | Q>R | No |
ClinGen TOPMed |
|
|
rs1441532519 CA573960530 |
271 | Q>V | No |
ClinGen gnomAD |
|
|
rs904617359 CA157156759 |
272 | D>G | No |
ClinGen gnomAD |
|
|
rs952358772 CA157163186 |
275 | Q>P | No |
ClinGen TOPMed |
|
| TCGA novel | 280 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775303606 CA4222354 |
281 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA367223346 rs1466726588 |
282 | H>Q | No |
ClinGen gnomAD |
|
|
CA4222355 rs202155606 |
286 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4222356 rs763550235 |
287 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA367223382 rs1377475772 |
288 | D>N | No |
ClinGen TOPMed |
|
|
CA4222357 rs750935741 |
289 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_036171 | 289 | I>T | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 290 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421967709 CA367223406 |
291 | E>G | No |
ClinGen gnomAD |
|
|
rs1467594530 CA367223413 |
292 | D>G | No |
ClinGen gnomAD |
|
|
CA4222360 rs754132765 |
295 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1438795505 CA367223448 |
297 | A>V | No |
ClinGen gnomAD |
|
|
CA157163244 rs766162606 |
299 | F>L | No |
ClinGen Ensembl |
|
|
CA367223467 rs1183060303 |
300 | M>K | No |
ClinGen Ensembl |
|
|
rs779061373 CA4222362 |
305 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777785559 CA4222365 |
306 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4222364 rs758445291 |
306 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746954043 CA4222366 |
307 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4222368 rs770715891 |
309 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 310 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776637215 CA4222370 |
310 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA4222369 rs776637215 |
310 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA367223544 rs1246792641 |
311 | K>E | No |
ClinGen gnomAD |
|
|
rs563057857 CA4222371 |
313 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 316 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA157163358 rs921968295 |
316 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 317 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs113903273 CA4222374 |
318 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA367223599 rs113903273 |
318 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs762760098 CA4222373 |
318 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 319 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 320 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4222375 rs773672648 |
321 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4222377 rs374455803 |
323 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1404108442 CA367223627 |
323 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367223629 rs1404108442 |
323 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs754368024 CA4222378 |
324 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA367223643 rs1356150571 |
326 | L>F | No |
ClinGen TOPMed |
|
|
CA4222380 rs765634843 |
328 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA157131028 rs764183917 |
332 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1368604583 CA367215568 |
335 | L>S | No |
ClinGen gnomAD |
|
|
rs751830410 CA4222402 COSM1089445 |
336 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium bone [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4222403 rs751830410 |
336 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367215576 rs1382285252 |
337 | I>V | No |
ClinGen gnomAD |
|
|
RCV000998788 CA367215583 rs1583641571 |
338 | I>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA157131062 rs1008840706 |
339 | K>E | No |
ClinGen Ensembl |
|
|
CA367215592 rs1239221772 |
339 | K>N | No |
ClinGen TOPMed |
|
|
rs1019014835 CA157131068 |
340 | D>N | No |
ClinGen Ensembl |
|
|
rs1173219882 CA367215598 |
340 | D>V | No |
ClinGen gnomAD |
|
|
CA4222406 rs780140270 |
342 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485628268 CA367215628 |
344 | K>R | No |
ClinGen TOPMed |
|
|
CA367215644 rs1353794968 |
347 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 352 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4222409 rs768515788 |
353 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3412018 rs144650767 CA4222411 |
354 | S>L | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs771482307 CA4222413 |
355 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1240630670 CA367215736 |
360 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 362 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150497712 CA4222418 |
364 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367215768 rs1376113644 |
364 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs763179633 CA4222419 |
365 | Y>C | No |
ClinGen ExAC |
|
|
CA4222421 rs764557467 |
366 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762153775 CA4222422 |
366 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764557467 CA4222420 |
366 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1345526064 CA367215788 |
367 | N>K | No |
ClinGen TOPMed |
|
|
rs767865328 COSM1698580 CA4222423 |
368 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1385265081 CA367215798 |
369 | D>G | No |
ClinGen Ensembl |
|
|
rs111988623 CA157131212 |
369 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs111988623 CA4222424 COSM1089447 |
369 | D>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1401026714 CA367215827 |
373 | K>E | No |
ClinGen gnomAD |
|
|
rs370638956 CA4222426 |
374 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1450592 rs370638956 CA4222425 |
374 | L>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA367215842 rs1321028613 |
375 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA367215853 rs1332399655 |
377 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA367215867 rs1436795192 |
378 | M>I | No |
ClinGen gnomAD |
|
|
CA4222448 rs200177768 |
381 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA157131891 rs200177768 |
381 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758221619 CA4222449 |
383 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA157131898 rs770244257 |
385 | A>D | No |
ClinGen Ensembl |
|
|
CA4222450 rs777358167 |
385 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4222452 rs756754229 |
387 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 388 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367215952 rs1421139293 |
391 | D>H | No |
ClinGen gnomAD |
|
|
rs1361595994 CA367215970 |
393 | G>D | No |
ClinGen gnomAD |
|
|
rs1170218666 CA367215967 |
393 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA367215971 rs1361595994 |
393 | G>V | No |
ClinGen gnomAD |
|
|
rs774746738 CA4222456 |
398 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 403 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245539469 CA367216040 |
403 | P>S | No |
ClinGen gnomAD |
|
|
rs1464722362 CA367216047 |
404 | R>T | No |
ClinGen gnomAD |
|
|
CA157131935 rs200181542 |
405 | T>S | No |
ClinGen Ensembl |
|
|
rs1032316700 CA157131937 |
406 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1032316700 CA367216056 |
406 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs748471749 CA4222457 |
407 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs772610279 CA4222458 |
408 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA367216085 rs1287075642 |
410 | I>T | No |
ClinGen gnomAD |
|
|
CA4222459 rs773534843 |
414 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA367216124 rs1442943687 |
416 | S>G | No |
ClinGen gnomAD |
|
|
rs773420778 CA4222460 |
416 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4222480 rs140425669 |
418 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367216150 rs140425669 |
418 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4222481 rs759612452 |
418 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA4222482 rs769815367 |
419 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4222484 rs762934676 |
420 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA367216178 rs117675957 |
422 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM294925 CA4222485 rs117675957 |
422 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA367216184 rs1487272159 |
423 | M>T | No |
ClinGen gnomAD |
|
|
rs1235304351 CA367216189 |
424 | D>H | No |
ClinGen TOPMed |
|
|
CA367216196 rs1324271200 |
425 | S>R | No |
ClinGen TOPMed |
|
|
rs121918300 CA157134554 |
426 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367216214 rs1480963535 |
427 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1562840973 CA367216216 |
428 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 429 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs986680196 CA157134584 |
429 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 429 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4222490 rs779494301 |
430 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4222493 rs778433179 |
432 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA157134620 rs113136095 |
432 | Y>H | No |
ClinGen TOPMed |
|
|
CA367216260 rs369550926 |
434 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4222495 rs372513137 |
435 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1466977297 CA367216279 |
437 | L>* | No |
ClinGen TOPMed |
|
|
rs1342251170 CA367216298 |
440 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs746117435 CA367216297 |
440 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746117435 CA4222497 |
440 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367216304 rs1289118876 |
441 | E>G | No |
ClinGen gnomAD |
|
|
rs769915016 CA4222498 |
441 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1223212090 CA367216308 |
442 | R>G | No |
ClinGen gnomAD |
|
|
CA4222501 rs768540000 |
445 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1038040043 CA157134672 |
445 | Q>L | No |
ClinGen Ensembl |
|
|
CA367216340 rs1261525228 |
446 | H>R | No |
ClinGen gnomAD |
|
|
rs1187594571 CA367216360 |
449 | P>S | No |
ClinGen gnomAD |
|
|
CA367216366 rs1201711976 |
450 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA367216387 rs1422130056 |
453 | T>A | No |
ClinGen gnomAD |
|
|
CA367216391 rs1461693321 |
453 | T>I | No |
ClinGen TOPMed |
|
|
CA367216402 rs1562841045 |
455 | G>D | No |
ClinGen Ensembl |
|
|
rs1262375581 CA367216413 |
457 | I>V | No |
ClinGen TOPMed |
|
|
rs1201699108 CA367216437 |
460 | H>R | No |
ClinGen TOPMed |
|
|
CA367216469 rs1583643677 |
465 | Q>K | No |
ClinGen Ensembl |
|
|
CA367216479 rs1583643684 |
466 | R>K | No |
ClinGen Ensembl |
|
|
CA4222507 rs772910255 |
466 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA4222508 rs760305644 |
467 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766093684 CA4222526 |
468 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4222529 COSM3778423 rs759095592 |
468 | Q>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs776449825 CA4222527 |
468 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1310907867 CA367216561 |
469 | I>T | No |
ClinGen gnomAD |
|
|
rs1467807621 CA367216567 |
470 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA367216591 rs1166573044 |
471 | K>N | No |
ClinGen Ensembl |
|
|
CA367216603 rs1457366279 |
472 | I>M | No |
ClinGen gnomAD |
|
|
CA4222531 rs757764957 |
472 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA157138721 rs1034831697 |
472 | I>V | No |
ClinGen Ensembl |
|
|
CA367216604 rs1176910976 |
473 | V>I | No |
ClinGen gnomAD |
|
|
CA4222532 rs768072208 |
474 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA367216623 rs1470635243 |
474 | K>N | No |
ClinGen gnomAD |
|
|
rs535127559 CA4222533 |
476 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs767197340 CA4222534 |
477 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367216656 rs767197340 |
477 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367216698 rs1399546959 |
480 | L>P | No |
ClinGen gnomAD |
|
|
rs1399546959 CA367216700 |
480 | L>R | No |
ClinGen gnomAD |
|
|
CA4222535 rs780233495 |
480 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA157138761 COSM187067 rs990691297 |
482 | Q>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA367216735 rs1443922266 |
483 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 484 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749548598 CA4222536 |
486 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1320648872 CA367216793 |
487 | F>C | No |
ClinGen TOPMed |
|
|
rs755043696 CA4222537 |
487 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA157138783 rs868174090 |
489 | T>N | No |
ClinGen Ensembl |
|
|
CA367216821 rs1583646563 |
490 | P>A | No |
ClinGen Ensembl |
|
|
CA367216836 rs867028149 |
491 | E>* | No |
ClinGen gnomAD |
|
|
rs569029522 CA4222540 |
491 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA157138784 rs867028149 |
491 | E>K | No |
ClinGen gnomAD |
|
|
rs1260107947 CA367216878 |
494 | E>K | No |
ClinGen gnomAD |
|
|
rs1260107947 CA367216880 |
494 | E>Q | No |
ClinGen gnomAD |
|
|
rs904540282 CA157138813 |
496 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4222542 rs776392517 |
497 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1235667034 CA367216954 |
499 | K>R | No |
ClinGen TOPMed |
|
|
rs759329851 CA4222543 |
500 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4222544 rs149205459 |
501 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 502 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367217007 rs1199956506 |
503 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 504 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422764547 CA367217015 |
504 | D>G | No |
ClinGen gnomAD |
|
|
CA4222545 rs774793704 |
504 | D>H | No |
ClinGen ExAC TOPMed |
|
|
CA367217009 rs774793704 |
504 | D>N | No |
ClinGen ExAC TOPMed |
|
|
CA367217011 rs774793704 COSM1176693 |
504 | D>Y | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
CA4222546 rs762552659 |
506 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs977691422 CA157138827 |
506 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs977691422 CA367217038 |
506 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs750984467 CA4222548 |
507 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA157138842 rs933716030 |
508 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 509 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367217107 rs1337015533 |
511 | E>A | No |
ClinGen TOPMed |
|
|
rs373473524 CA4222550 |
512 | M>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA157138853 rs1051276604 |
513 | L>* | No |
ClinGen Ensembl |
|
|
rs766795421 CA4222551 |
513 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754044934 CA4222552 |
515 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4222565 rs768248296 |
516 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4222566 rs773586842 |
516 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316305074 CA367217313 |
517 | P>A | No |
ClinGen TOPMed |
|
|
rs761227974 CA4222567 |
517 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs369012463 CA4222569 |
518 | S>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4222571 rs765328516 |
519 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs759926208 CA4222570 |
519 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1017512844 CA157140323 |
520 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4222572 rs753013180 |
521 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1583647954 CA367217345 |
522 | I>T | No |
ClinGen Ensembl |
|
|
CA367217354 rs1336399753 |
524 | T>A | No |
ClinGen TOPMed |
|
|
CA367217358 rs1562844182 |
524 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA367217365 rs564332700 |
525 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1390857036 CA367217377 |
527 | N>H | No |
ClinGen TOPMed |
|
|
rs989303439 CA157140335 |
528 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 529 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372034141 CA367217397 |
530 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4222575 rs372034141 |
530 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757206408 CA4222576 |
532 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367217423 rs186068152 |
534 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs186068152 CA367217422 |
534 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA157140353 rs937650735 |
535 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA157140371 rs1056074880 |
536 | M>I | No |
ClinGen TOPMed |
|
|
CA367217440 rs1385042467 |
537 | G>D | No |
ClinGen gnomAD |
|
|
CA157140376 rs894717795 |
537 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1485492071 CA367217446 |
538 | P>Q | No |
ClinGen TOPMed |
|
|
rs1453556404 CA367217445 |
538 | P>S | No |
ClinGen gnomAD |
|
|
rs749036569 CA4222580 |
539 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1224442590 CA367217826 |
541 | P>A | No |
ClinGen TOPMed |
|
|
rs1224442590 CA367217824 |
541 | P>S | No |
ClinGen TOPMed |
|
|
rs1224442590 CA367217822 |
541 | P>T | No |
ClinGen TOPMed |
|
|
CA367217879 rs1261123421 |
545 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4222584 rs199902263 |
546 | L>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777145868 CA4222585 |
546 | L>F | No |
ClinGen ExAC |
|
|
CA157140394 rs199621229 |
548 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763297191 CA4222590 |
553 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4222591 rs376059508 |
554 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4222592 rs751625039 |
554 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1470310487 CA367217995 CA367217996 |
555 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1269565 rs1330765391 CA367218019 |
559 | S>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs370675334 CA367218028 |
560 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370675334 CA4222594 |
560 | K>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1307035379 CA367218035 |
561 | L>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 563 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1197387362 CA367218063 |
565 | V>A | No |
ClinGen gnomAD |
|
|
CA157140442 rs957940664 |
565 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 565 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4222597 rs373041452 |
566 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1177405552 CA367218080 |
568 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs749049858 CA4222598 |
568 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs896604785 CA157140468 |
571 | A>D | No |
ClinGen Ensembl |
|
|
rs778569092 CA4222601 |
571 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs778569092 COSM187069 CA4222600 |
571 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs527811748 CA157140486 |
572 | Y>C | No |
ClinGen 1000Genomes |
|
|
rs1020810328 CA157140470 |
572 | Y>H | No |
ClinGen TOPMed |
|
|
rs777092381 CA4222603 |
574 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367218123 rs1245499111 |
575 | K>R | No |
ClinGen gnomAD |
|
|
rs981903621 CA157140496 |
576 | E>G | No |
ClinGen TOPMed |
|
|
CA4222606 rs763234222 |
579 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1384811964 CA367218153 |
580 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 581 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 581 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346026530 CA367218165 |
582 | F>V | No |
ClinGen gnomAD |
|
|
CA157140517 rs74754126 |
583 | E>* | No |
ClinGen Ensembl |
|
|
CA367218182 rs1398186036 |
584 | D>G | No |
ClinGen TOPMed |
|
|
rs761949168 COSM1698581 CA4222609 |
584 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA157140531 rs202125278 |
585 | P>L | No |
ClinGen 1000Genomes |
|
|
CA4222610 rs767768717 |
586 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1204673612 CA367218207 |
588 | N>D | No |
ClinGen gnomAD |
1 associated diseases with Q8N427
[MIM: 610852]: Ciliary dyskinesia, primary, 6 (CILD6)
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:17360648}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:17360648}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for Q8N427
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Thioredoxin domain | 1 - 119 | IPR013766 |
| conserved_site | Thioredoxin, conserved site | 31 - 49 | IPR017937 |
| domain | Nucleoside diphosphate kinase-like domain | 157 - 228 | IPR034907-1 |
| domain | Nucleoside diphosphate kinase-like domain | 315 - 455 | IPR034907-2 |
| domain | Nucleoside diphosphate kinase-like domain | 451 - 588 | IPR034907-3 |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| axoneme | The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| 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. |
| outer dynein arm | Outer arm structure present on the outer doublet microtubules of ciliary and flagellar axonemes. Outer dynein arms contain 2-3 heavy chains, two or more intermediate chains and a cluster of 4-8 light chains. Inner and outer dynein arms have different functions in the generation of microtubule-based motility. |
| sperm cytoplasmic droplet | A small amount of cytoplasm surrounded by a cell membrane that is generally retained in spermatozoa after spermiogenesis, when the majority of the cytoplasm is phagocytosed by Sertoli cells to produce what are called residual bodies. Initially, the droplet is located at the neck just behind the head of an elongated spermatid. During epididymal transit, the cytoplasmic droplet migrates caudally to the annulus at the end of the midpiece; the exact position and time varies by species. The cytoplasmic droplet consists of lipids, lipoproteins, RNAs, a variety of hydrolytic enzymes, receptors, ion channels, and Golgi-derived vesicles. The droplet may be involved in regulatory volume loss (RVD) at ejaculation, and in most species, though not in humans, the cytoplasmic droplet is lost at ejaculation. Note that the cytoplasmic droplet is distinct from 'excessive residual cytoplasm' that sometimes remains in epididymal spermatozoa, particularly when spermiogenesis has been disrupted. |
| sperm midpiece | The highly organized segment of the sperm flagellum which begins at the connecting piece and is characterized by the presence of 9 outer dense fibers (ODFs) that lie outside each of the 9 outer axonemal microtubule doublets and by a sheath of mitochondria that encloses the ODFs and the axoneme; the midpiece terminates about one-fourth of the way down the sperm flagellum at the annulus, which marks the beginning of the principal piece. |
| sperm principal piece | The segment of the sperm flagellum where the mitochondrial sheath ends, and the outer dense fibers (ODFs) associated with outer axonemal doublets 3 and 8 are replaced by the 2 longitudinal columns of the fibrous sheath (FS) which run the length of the principal piece and are stabilized by circumferential ribs. The principal piece makes up ~2/3 of the length of the sperm flagellum and is defined by the presence of the FS and of only 7 (rather than 9) ODFs which taper and then terminate near the distal end of the principal piece. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cellular response to reactive oxygen species | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a reactive oxygen species stimulus. Reactive oxygen species include singlet oxygen, superoxide, and oxygen free radicals. |
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| flagellated sperm motility | The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8S091 | Os01g0913000 | Thioredoxin F, chloroplastic | Oryza sativa subsp japonica (Rice) | PR |
| Q6Z4I3 | Os07g0190800 | Thioredoxin H2-1 | Oryza sativa subsp japonica (Rice) | PR |
| O64903 | NDPK2 | Nucleoside diphosphate kinase II, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9CAS1 | TRX8 | Thioredoxin H8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SIN1 | TTL3 | Inactive TPR repeat-containing thioredoxin TTL3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8VWG7 | TDX | TPR repeat-containing thioredoxin TDX | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q84JR9 | TTL4 | TPR repeat-containing thioredoxin TTL4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8VZT6 | WCRKC2 | Thioredoxin-like 3-2, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASKKREVQL | QTVINNQSLW | DEMLQNKGLT | VIDVYQAWCG | PCRAMQPLFR | KLKNELNEDE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ILHFAVAEAD | NIVTLQPFRD | KCEPVFLFSV | NGKIIEKIQG | ANAPLVNKKV | INLIDEERKI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AAGEMARPQY | PEIPLVDSDS | EVSEESPCES | VQELYSIAII | KPDAVISKKV | LEIKRKITKA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GFIIEAEHKT | VLTEEQVVNF | YSRIADQCDF | EEFVSFMTSG | LSYILVVSQG | SKHNPPSEET |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EPQTDTEPNE | RSEDQPEVEA | QVTPGMMKNK | QDSLQEYLER | QHLAQLCDIE | EDAANVAKFM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DAFFPDFKKM | KSMKLEKTLA | LLRPNLFHER | KDDVLRIIKD | EDFKILEQRQ | VVLSEKEAQA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LCKEYENEDY | FNKLIENMTS | GPSLALVLLR | DNGLQYWKQL | LGPRTVEEAI | EYFPESLCAQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FAMDSLPVNQ | LYGSDSLETA | EREIQHFFPL | QSTLGLIKPH | ATSEQREQIL | KIVKEAGFDL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TQVKKMFLTP | EQIEKIYPKV | TGKDFYKDLL | EMLSVGPSMV | MILTKWNAVA | EWRRLMGPTD |
| 550 | 560 | 570 | 580 | ||
| PEEAKLLSPD | SIRAQFGISK | LKNIVHGASN | AYEAKEVVNR | LFEDPEEN |