Q8N960
PR
Gene name |
CEP120 (CCDC100) |
Protein name |
Centrosomal protein of 120 kDa |
Names |
Cep120, Coiled-coil domain-containing protein 100 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:153241 |
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
5 structures for Q8N960
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4ICW | X-ray | 220 A | A | 1-151 | PDB |
| 4ICX | X-ray | 270 A | A/B/C | 1-151 | PDB |
| 6FLJ | X-ray | 175 A | A | 1-151 | PDB |
| 6FLK | X-ray | 160 A | A/B | 450-610 | PDB |
| AF-Q8N960-F1 | Predicted | AlphaFoldDB |
877 variants for Q8N960
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs371099291 CA3387353 RCV001214737 RCV000480092 |
18 | R>W | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1774369109 RCV001070253 |
74 | P>T | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000761599 CA360896423 rs1311902826 |
76 | K>E | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1255595388 RCV001209087 CA360896325 |
85 | V>I | Variant assessed as Somatic; 0.0 impact. Short-rib thoracic dysplasia 13 with or without polydactyly [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002527920 CA360896271 rs1554106320 RCV000558445 |
93 | G>D | Short-rib thoracic dysplasia 13 with or without polydactyly Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs202103949 CA3387259 RCV002553071 RCV001040849 RCV001813811 |
120 | T>A | Short-rib thoracic dysplasia 13 with or without polydactyly Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000534625 CA3387258 rs147273517 RCV001584357 |
121 | K>R | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002286780 rs200983311 RCV000692907 CA3387255 |
137 | K>E | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA125995892 RCV000515146 rs757499322 |
151 | R>* | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1379324177 RCV000685965 CA360893573 |
157 | A>T | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001070254 rs200059033 CA3387205 |
167 | I>V | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1554104276 VAR_077553 RCV000515139 CA360893331 |
194 | V>A | Joubert syndrome 31 JBTS31; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA199260 RCV000169771 VAR_073672 rs367600930 |
199 | A>P | Short-rib thoracic dysplasia 13 with or without polydactyly SRTD13; also found in a patient with more complex ciliopathy [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA3387161 RCV001326567 rs779407868 RCV002546190 |
212 | L>V | Short-rib thoracic dysplasia 13 with or without polydactyly Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001328697 rs1772529903 |
254 | S>missing | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002539267 RCV000878505 RCV003151171 CA3387142 rs189429890 RCV001638016 |
260 | R>H | Short-rib thoracic dysplasia 13 with or without polydactyly Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs189429890 RCV001038858 CA3387143 |
260 | R>L | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA360892499 RCV000820417 rs1421931952 |
268 | K>E | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3387118 RCV001215484 rs201955087 |
276 | G>E | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1772365923 RCV001238749 |
345 | S>F | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001333594 rs775393475 CA3387061 |
354 | Q>H | Joubert syndrome 31 [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC TOPMed gnomAD |
|
RCV000552421 CA3387054 RCV001644666 rs61747983 |
369 | P>S | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001692317 CA3387052 rs114281792 RCV002536795 RCV001731967 RCV001817053 RCV000878487 |
371 | K>R | Joubert syndrome 31 Short-rib thoracic dysplasia 13 with or without polydactyly Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201571160 RCV002260694 CA3387050 RCV002568683 RCV001248104 |
373 | K>N | Short-rib thoracic dysplasia 13 with or without polydactyly Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1554103267 RCV000515141 |
380 | S>missing | Joubert syndrome 31 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3387033 RCV002537004 RCV001655598 RCV000795598 rs200450605 |
394 | P>S | Short-rib thoracic dysplasia 13 with or without polydactyly Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA360890451 rs1196167686 RCV000653255 |
425 | A>G | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs753763495 RCV001555993 RCV001212941 CA3387003 |
445 | I>F | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000798447 rs776098623 CA3386992 |
464 | H>L | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1771927226 RCV001317086 |
541 | S>G | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_077554 CA3386908 RCV001268429 rs775080726 RCV000515145 |
549 | A>V | Joubert syndrome 31 JBTS31; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV002533594 rs147277049 CA3386899 RCV001766531 RCV000700620 |
562 | T>A | Short-rib thoracic dysplasia 13 with or without polydactyly Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002264986 CA3386892 RCV000808162 rs367748337 |
574 | R>H | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000694247 rs150132498 CA126015065 |
611 | R>G | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3386854 RCV001211986 rs758625645 |
611 | R>H | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3386796 RCV001350630 rs749655305 |
664 | Q>K | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002535278 RCV000732470 CA3386737 rs200462051 RCV002536481 |
707 | I>V | Short-rib thoracic dysplasia 13 with or without polydactyly Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3386734 VAR_077555 RCV000557671 RCV001537304 rs114280473 RCV000515147 |
712 | L>F | Joubert syndrome 31 Short-rib thoracic dysplasia 13 with or without polydactyly JBTS31; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA360898838 RCV000515151 VAR_077556 rs1554102026 |
726 | L>P | Joubert syndrome 31 JBTS31; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000533848 RCV003151104 RCV001570209 CA3386725 rs61744334 |
728 | S>G | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201600892 CA3386686 RCV001316591 RCV000489383 |
745 | Q>H | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV000819454 RCV002537441 rs375645626 CA3386685 |
746 | R>Q | Variant assessed as Somatic; 0.0 impact. Short-rib thoracic dysplasia 13 with or without polydactyly Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000761598 rs759125480 CA3386665 |
775 | Q>* | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001059299 rs1770933357 |
806 | D>E | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3386620 rs142792779 RCV000973209 RCV001445277 |
815 | R>H | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3386617 rs765442218 RCV001328694 |
821 | N>S | Joubert syndrome 31 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001550237 RCV002536299 rs140306974 RCV000653254 CA3386567 |
883 | R>C | Short-rib thoracic dysplasia 13 with or without polydactyly Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001328695 rs1768853529 |
914 | E>K | Short-rib thoracic dysplasia 13 with or without polydactyly [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000515150 CA360893671 VAR_077557 rs1554098663 |
975 | I>S | Short-rib thoracic dysplasia 13 with or without polydactyly found in a patient with Meckel syndrome; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767904943 CA3387401 |
2 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA360897903 rs1437525882 |
3 | S>T | No |
ClinGen gnomAD |
|
|
CA360897884 rs1216445536 |
4 | K>R | No |
ClinGen gnomAD |
|
|
CA360897883 rs1216445536 |
4 | K>T | No |
ClinGen gnomAD |
|
|
CA3387398 rs752431722 |
5 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531662259 CA3387397 |
6 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1450738748 CA360897848 |
7 | Q>K | No |
ClinGen TOPMed |
|
|
CA3387396 rs759132381 |
7 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs993259589 CA126006530 |
10 | I>M | No |
ClinGen Ensembl |
|
|
CA3387394 rs199793672 |
10 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360897792 rs1330280997 |
11 | V>D | No |
ClinGen gnomAD |
|
|
CA3387393 rs760631495 |
12 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs760631495 CA126006519 |
12 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs772928146 CA3387392 |
13 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA360897770 rs1165565582 |
14 | I>V | No |
ClinGen gnomAD |
|
|
rs761732711 CA3387352 |
18 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355867245 CA360897390 |
20 | F>L | No |
ClinGen gnomAD |
|
|
CA126001501 rs775735925 |
20 | F>S | No |
ClinGen Ensembl |
|
|
CA3387351 rs751391788 |
21 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs763850647 CA3387350 |
22 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3387349 rs377047700 |
23 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs543617686 CA126001494 |
24 | P>L | No |
ClinGen 1000Genomes |
|
|
CA3387347 rs201838474 |
26 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3387345 rs373814945 |
27 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360897332 rs1353061779 |
27 | M>T | No |
ClinGen TOPMed |
|
|
rs759722220 CA3387346 |
27 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA360897319 rs1284585525 |
29 | V>I | No |
ClinGen TOPMed |
|
|
CA360897311 rs1316640033 |
30 | V>M | No |
ClinGen TOPMed |
|
|
rs771608017 CA3387344 |
32 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3387343 rs576318938 |
32 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3387342 rs778376278 |
33 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs558077093 CA3387341 |
36 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779768191 CA3387339 |
40 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3387337 rs750013599 |
41 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs757230570 CA3387335 |
42 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA360897222 rs1334156376 |
42 | D>H | No |
ClinGen gnomAD |
|
|
CA3387334 rs751516596 |
43 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA126001408 rs763956829 |
43 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3387333 rs763956829 |
43 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA126001410 rs751516596 |
43 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360897216 rs751516596 |
43 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360897213 rs1473652535 |
44 | V>L | No |
ClinGen TOPMed |
|
|
rs750619101 CA126001402 |
46 | H>N | No |
ClinGen gnomAD |
|
|
CA126001378 rs760917752 |
46 | H>R | No |
ClinGen Ensembl |
|
|
rs750619101 CA360897199 |
46 | H>Y | No |
ClinGen gnomAD |
|
|
CA360897189 rs1177987153 |
47 | T>I | No |
ClinGen TOPMed |
|
|
rs767766084 CA3387331 |
51 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452117593 CA360897144 |
54 | T>A | No |
ClinGen gnomAD |
|
|
rs752424080 CA3387330 |
54 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA360897083 rs376374734 |
59 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776823634 CA3387327 |
60 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA360897031 rs1192511699 |
63 | K>R | No |
ClinGen gnomAD |
|
|
CA360897032 rs1192511699 |
63 | K>T | No |
ClinGen gnomAD |
|
|
rs771158452 CA3387326 |
64 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3387323 rs751682861 |
66 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360896977 rs1411139044 |
67 | Q>R | No |
ClinGen TOPMed |
|
|
CA360896954 rs200815742 |
69 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1276747636 CA360896458 |
71 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3387306 rs773412278 |
71 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA125999553 rs372077391 |
71 | Q>R | No |
ClinGen ESP TOPMed |
|
|
rs368379427 CA3387305 |
72 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA125999516 rs1044861327 |
72 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA125999535 rs368379427 |
72 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360896443 rs1299164759 |
73 | T>I | No |
ClinGen gnomAD |
|
|
CA360896444 rs1299164759 |
73 | T>S | No |
ClinGen gnomAD |
|
|
CA3387303 rs774823755 |
75 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA3387304 rs372680663 |
75 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA360896397 rs1414488743 |
78 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768922959 CA3387302 |
78 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1475027065 CA360896358 |
81 | A>T | No |
ClinGen gnomAD |
|
|
CA360896337 rs1258447094 |
83 | D>Y | No |
ClinGen TOPMed |
|
|
CA360896330 rs1424185468 |
84 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3387298 rs746592543 |
88 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs935584951 CA125999418 |
89 | K>R | No |
ClinGen gnomAD |
|
|
rs1422507578 CA360896275 |
92 | I>M | No |
ClinGen TOPMed |
|
|
CA360896278 rs1280785580 |
92 | I>R | No |
ClinGen gnomAD |
|
|
CA360896280 rs1190094676 |
92 | I>V | No |
ClinGen TOPMed |
|
|
rs777235472 CA3387297 |
94 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3387296 rs367752008 |
95 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA125999400 rs980082330 |
95 | I>V | No |
ClinGen TOPMed |
|
|
CA3387294 rs778872126 |
96 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754732787 CA3387293 |
97 | L>R | No |
ClinGen ExAC |
|
|
CA360896243 rs1326053685 |
98 | D>V | No |
ClinGen TOPMed |
|
|
rs985524034 CA125999360 |
98 | D>Y | No |
ClinGen gnomAD |
|
|
rs753627100 CA3387292 |
101 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3387290 rs370142490 |
102 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370142490 CA3387289 |
102 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3387288 rs540886697 |
105 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3387287 rs568081479 |
106 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1196566212 CA360896187 |
107 | Q>* | No |
ClinGen TOPMed |
|
|
CA360896167 rs1180636988 |
108 | A>S | No |
ClinGen gnomAD |
|
|
CA125996033 rs373437403 |
109 | P>R | No |
ClinGen ESP |
|
|
rs773832163 CA3387263 |
109 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3387262 rs773832163 |
109 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1376011485 CA360896140 |
112 | Y>N | No |
ClinGen TOPMed |
|
| TCGA novel | 113 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759856393 CA3387260 |
115 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA360896115 rs1354020720 |
116 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs951642646 CA125995983 |
122 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA360896059 rs1294049676 |
123 | K>M | No |
ClinGen gnomAD |
|
|
rs1024523955 CA125995966 |
125 | E>G | No |
ClinGen TOPMed |
|
|
CA360896012 rs1219742302 |
130 | I>V | No |
ClinGen TOPMed |
|
|
rs1014923216 CA360896005 |
131 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1014923216 CA125995961 |
131 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA360895997 rs1309961479 |
132 | L>V | No |
ClinGen TOPMed |
|
|
rs781231249 CA125995959 |
134 | T>I | No |
ClinGen Ensembl |
|
|
CA125995933 rs371827910 |
135 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA360895950 rs1381206938 |
136 | T>K | No |
ClinGen gnomAD |
|
|
CA360895948 rs1381206938 |
136 | T>R | No |
ClinGen gnomAD |
|
|
rs971660792 CA125995911 |
141 | D>G | No |
ClinGen TOPMed |
|
|
rs1267200530 CA360895905 |
141 | D>H | No |
ClinGen gnomAD |
|
|
CA360895837 rs1489791528 |
146 | K>N | No |
ClinGen gnomAD |
|
|
CA3387253 rs368741651 |
146 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1562092430 CA360895832 |
147 | G>W | No |
ClinGen Ensembl |
|
|
CA3387252 rs769740662 |
148 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1240688219 CA360895823 |
148 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 148 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360895812 rs745588862 |
149 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA3387251 rs745588862 |
149 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3387250 rs781329490 |
150 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3387249 rs757499322 |
151 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3387248 COSM3135254 rs751634657 |
151 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA125995882 rs376597625 |
153 | G>E | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 154 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3387247 rs777889367 |
155 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs963720385 CA125985261 |
156 | P>L | No |
ClinGen TOPMed |
|
|
rs976349828 CA125985268 |
156 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA360893567 rs1462355088 |
158 | I>V | No |
ClinGen TOPMed |
|
|
CA360893560 rs1477377169 |
159 | L>M | No |
ClinGen gnomAD |
|
|
rs748291278 CA3387209 |
159 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3387208 rs778932435 |
160 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3387207 rs527359023 |
161 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360893540 rs1199961445 |
163 | D>N | No |
ClinGen gnomAD |
|
|
rs749824033 CA3387206 |
164 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA360893527 rs1422395671 |
165 | R>G | No |
ClinGen TOPMed |
|
|
rs1277123000 CA360893520 |
166 | D>N | No |
ClinGen gnomAD |
|
|
CA125985235 rs1055807938 |
167 | I>M | No |
ClinGen gnomAD |
|
|
CA125985241 rs796379142 |
167 | I>T | No |
ClinGen Ensembl |
|
|
rs76357158 CA3387203 |
170 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA3387204 rs756502328 |
170 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360893496 rs756502328 |
170 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472583246 CA360893479 |
173 | E>K | No |
ClinGen TOPMed |
|
|
CA3387202 rs763894582 |
174 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA360893471 rs1338388065 |
174 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 175 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414578695 CA360893458 |
176 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs758095575 CA3387201 |
179 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1060131 rs1017973266 CA125985211 |
182 | P>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA125985200 rs879077864 |
183 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1424029070 CA360893389 |
186 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758933551 CA3387198 |
187 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764865440 CA3387199 |
187 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776635268 CA3387197 |
191 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 193 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1443086581 CA360893318 |
196 | I>M | No |
ClinGen gnomAD |
|
|
CA360893320 RCV000493782 rs1131691279 |
196 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3387196 rs766171755 |
196 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA125985158 rs937392264 |
197 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3387195 rs760578575 |
198 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1045771057 CA360893287 |
201 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA360893293 rs1317879903 |
201 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA360893290 rs1227753181 |
201 | Q>R | No |
ClinGen TOPMed |
|
|
rs548355953 CA360893270 |
204 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548355953 CA3387194 |
204 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 205 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467035884 CA360892982 |
206 | I>T | No |
ClinGen TOPMed |
|
|
CA360892972 rs1179453266 |
207 | P>L | No |
ClinGen gnomAD |
|
|
rs778686327 CA3387164 |
207 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125980175 rs920528609 |
208 | C>R | No |
ClinGen Ensembl |
|
|
rs370960719 CA3387162 |
208 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs973707478 CA125980163 |
210 | M>V | No |
ClinGen Ensembl |
|
|
rs755600125 CA3387160 |
212 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA360892908 rs1283442180 |
213 | P>L | No |
ClinGen gnomAD |
|
|
CA360892847 rs1294714566 |
218 | E>D | No |
ClinGen TOPMed |
|
|
CA360892825 rs1310898179 |
220 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1217376363 CA360892782 |
223 | Y>* | No |
ClinGen gnomAD |
|
|
rs1388398891 CA360892784 |
223 | Y>F | No |
ClinGen gnomAD |
|
|
CA3387158 rs767371755 |
224 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA360892760 rs1280997255 |
227 | G>A | No |
ClinGen TOPMed |
|
|
CA3387157 rs761606203 |
229 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 230 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747684416 CA125980130 |
230 | V>L | No |
ClinGen Ensembl |
|
|
CA360892733 rs1367613284 |
231 | T>I | No |
ClinGen gnomAD |
|
|
CA360892712 rs1320415968 |
234 | P>R | No |
ClinGen TOPMed |
|
|
CA3387155 rs377748970 |
236 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3387156 rs377748970 |
236 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763066911 CA3387154 |
237 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA360892677 rs1161453733 |
239 | I>T | No |
ClinGen gnomAD |
|
|
rs1342911098 CA360892670 |
240 | N>I | No |
ClinGen TOPMed |
|
|
CA360892672 rs1342911098 |
240 | N>T | No |
ClinGen TOPMed |
|
|
CA3387153 rs765267157 |
242 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA3387152 rs765267157 |
242 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA360892656 rs1425092229 |
242 | N>K | No |
ClinGen gnomAD |
|
|
rs1410630358 CA360892648 |
243 | F>L | No |
ClinGen gnomAD |
|
|
CA3387150 rs777291729 |
245 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs759626203 CA3387151 |
245 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1261544137 CA360892635 |
246 | E>K | No |
ClinGen gnomAD |
|
|
rs1488210838 CA360892625 |
247 | R>K | No |
ClinGen TOPMed |
|
|
rs747445980 CA3387148 |
249 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207429250 CA360892608 |
250 | V>L | No |
ClinGen gnomAD |
|
|
CA3387147 rs773419230 |
251 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA125980048 rs748718016 |
251 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA360892598 rs1225065471 |
252 | I>V | No |
ClinGen gnomAD |
|
|
CA3387146 rs780924937 |
253 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3387145 COSM243643 rs748914764 |
253 | R>H | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA125980036 rs530036424 |
255 | S>T | No |
ClinGen 1000Genomes |
|
|
CA360892569 rs1166865817 |
256 | V>A | No |
ClinGen TOPMed |
|
|
CA360892562 rs1473398606 |
257 | E>A | No |
ClinGen gnomAD |
|
|
CA360892558 rs1580704118 |
258 | I>V | No |
ClinGen Ensembl |
|
|
rs376054470 CA3387144 |
260 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360892545 rs189429890 |
260 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376054470 CA125980035 |
260 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 263 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360892520 rs1359046250 |
264 | A>D | No |
ClinGen gnomAD |
|
|
rs1177398721 CA360892519 |
265 | L>I | No |
ClinGen gnomAD |
|
|
rs751408671 CA3387139 |
266 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs751408671 COSM3946794 CA3387140 |
266 | Q>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA360892283 rs1184959275 |
271 | I>F | No |
ClinGen gnomAD |
|
|
rs746952696 CA3387121 |
272 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs758141289 CA3387119 |
273 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs554304150 CA125978391 |
274 | C>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1263501318 CA360892255 |
275 | C>Y | No |
ClinGen gnomAD |
|
|
rs755222970 CA3387116 |
277 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs754023745 CA3387115 |
278 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3387114 rs766586380 |
278 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA3387113 rs760793869 |
281 | G>R | No |
ClinGen ExAC |
|
|
CA3387111 rs750895574 |
283 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA3387110 rs768006734 |
285 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1292212875 CA360892189 |
286 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 289 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3387108 rs774772594 |
290 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA3387107 rs769474267 |
291 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs376472074 CA360892130 |
295 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376472074 CA3387105 |
295 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376472074 CA360892131 |
295 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360892109 rs1346560152 |
298 | I>V | No |
ClinGen TOPMed |
|
|
CA125978285 rs1005621618 |
299 | N>S | No |
ClinGen gnomAD |
|
|
rs1303271560 CA360892095 |
300 | Q>E | No |
ClinGen gnomAD |
|
|
rs373217138 CA125978282 |
300 | Q>H | No |
ClinGen ESP TOPMed |
|
|
CA360892072 rs1209037666 |
303 | V>D | No |
ClinGen gnomAD |
|
|
rs369487998 CA3387104 |
304 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1250837043 CA360892046 |
306 | E>G | No |
ClinGen TOPMed |
|
|
rs777630050 CA3387102 |
306 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3387101 rs772046806 |
308 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA360892001 rs1308669170 |
310 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 313 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360891955 rs1385145285 |
314 | P>L | No |
ClinGen gnomAD |
|
|
CA125978262 rs1044626513 |
315 | N>D | No |
ClinGen gnomAD |
|
|
rs1171654367 CA360891943 |
316 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA360891891 rs1338103527 |
320 | K>Q | No |
ClinGen gnomAD |
|
|
CA3387099 rs778832006 |
322 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1562055947 CA360891840 |
323 | P>L | No |
ClinGen Ensembl |
|
|
rs895956986 CA125978247 |
324 | I>L | No |
ClinGen Ensembl |
|
|
CA125978217 rs1053264524 |
325 | P>S | No |
ClinGen Ensembl |
|
|
CA360891816 rs1365764641 |
326 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1480665917 CA360891818 |
326 | V>L | No |
ClinGen TOPMed |
|
|
rs1480665917 CA360891821 |
326 | V>M | No |
ClinGen TOPMed |
|
|
rs1304562610 CA360891806 |
327 | E>A | No |
ClinGen gnomAD |
|
|
rs1417528835 CA360891793 |
328 | L>P | No |
ClinGen gnomAD |
|
|
CA360891789 rs1194778440 |
329 | A>P | No |
ClinGen gnomAD |
|
|
CA360891777 rs1170449191 |
330 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 330 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360891763 rs372144017 |
331 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372144017 CA3387097 |
331 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754140711 CA3387096 |
334 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228406365 CA360891718 |
335 | S>C | No |
ClinGen Ensembl |
|
|
rs369012550 CA125978165 |
336 | V>A | No |
ClinGen ESP TOPMed |
|
|
CA3387093 rs750503065 |
339 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA360891651 rs1201818003 |
342 | G>S | No |
ClinGen gnomAD |
|
|
rs768696922 CA3387063 |
347 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA360891535 rs1306542606 |
347 | S>T | No |
ClinGen gnomAD |
|
|
rs1281006271 CA360891520 |
348 | L>S | No |
ClinGen gnomAD |
|
|
rs566199015 CA125977339 |
349 | I>V | No |
ClinGen Ensembl |
|
|
rs1348307177 CA360891500 |
350 | E>A | No |
ClinGen gnomAD |
|
|
CA360891488 rs1562053969 RCV000722958 |
351 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1302758450 CA360891460 |
354 | Q>* | No |
ClinGen gnomAD |
|
|
CA360891413 rs1367526243 |
357 | H>D | No |
ClinGen gnomAD |
|
|
CA3387060 rs749944654 |
357 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1409356450 CA360891362 |
361 | H>Y | No |
ClinGen gnomAD |
|
|
rs781206218 CA3387058 |
363 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3387057 rs376200854 |
363 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3387056 rs747078578 |
364 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1199697779 CA360891317 |
365 | K>E | No |
ClinGen gnomAD |
|
|
rs1490756370 CA360891301 |
366 | V>G | No |
ClinGen gnomAD |
|
|
CA125977301 rs999543272 |
367 | L>F | No |
ClinGen gnomAD |
|
|
CA3387055 rs778319451 |
368 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3387053 rs753113702 |
371 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 372 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 376 | T>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA125977228 rs981511783 |
376 | T>S | No |
ClinGen TOPMed |
|
|
CA125977220 rs370814149 |
377 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA360891173 rs1211254538 |
379 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs762960922 CA3387046 |
381 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs376121018 CA3387044 |
381 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3387045 rs762960922 |
381 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA125977180 rs997488622 |
382 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3387043 rs769660500 |
383 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs745593990 CA3387042 |
384 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3387040 rs747131868 |
385 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3387039 rs747131868 |
385 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1185381899 CA360891108 |
386 | V>F | No |
ClinGen gnomAD |
|
|
rs546926801 CA3387038 |
387 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546926801 CA360891093 |
387 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3387037 rs772094924 |
388 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA360891080 rs1207926317 |
389 | H>D | No |
ClinGen gnomAD |
|
|
rs373474119 CA125977138 |
390 | N>S | No |
ClinGen ESP |
|
|
CA360891045 rs1263466255 |
391 | Q>H | No |
ClinGen gnomAD |
|
|
rs755380584 CA3387034 |
393 | P>L | No |
ClinGen ExAC |
|
|
rs779223993 CA3387035 |
393 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 394 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360891001 rs1293726170 |
396 | K>R | No |
ClinGen gnomAD |
|
|
CA3387032 rs780961044 |
397 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs756939054 CA3387031 |
398 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs751164300 CA3387030 |
399 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 400 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776114102 CA3387029 RCV000503288 |
401 | E>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA125977109 rs1033108006 |
403 | E>A | No |
ClinGen TOPMed |
|
|
rs1295663557 CA360890905 |
404 | V>M | No |
ClinGen TOPMed |
|
|
CA360890870 rs1406003671 CA360890871 |
406 | S>R | No |
ClinGen gnomAD |
|
|
CA3387028 rs762511284 |
409 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3387027 rs752694535 |
411 | K>E | No |
ClinGen ExAC |
|
|
CA360890766 rs1471174056 |
411 | K>M | No |
ClinGen gnomAD |
|
|
rs1421992704 CA360890760 |
412 | D>N | No |
ClinGen gnomAD |
|
|
CA3387026 RCV001310861 rs375851614 |
415 | P>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3387010 rs756497720 |
420 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs751286843 CA3387009 |
420 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA360890482 rs751286843 |
420 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1473821278 CA360890473 |
421 | S>F | No |
ClinGen gnomAD |
|
|
CA360890463 rs1342208701 |
423 | V>A | No |
ClinGen Ensembl |
|
|
rs866098532 CA125975873 |
423 | V>L | No |
ClinGen gnomAD |
|
|
rs1020153671 CA125975854 |
426 | S>P | No |
ClinGen Ensembl |
|
|
CA360890433 rs1479083396 |
429 | Q>K | No |
ClinGen TOPMed |
|
|
rs971165608 CA125975848 |
429 | Q>R | No |
ClinGen TOPMed |
|
|
CA360890411 rs1394637775 |
432 | T>S | No |
ClinGen TOPMed |
|
|
CA3387006 rs368287993 |
435 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 438 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1358780626 CA360890364 |
440 | A>T | No |
ClinGen gnomAD |
|
|
CA360890353 rs1372233356 |
441 | S>L | No |
ClinGen TOPMed |
|
|
rs765259508 CA3387005 |
442 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA360890343 rs1410436154 |
443 | Q>R | No |
ClinGen TOPMed |
|
|
CA3387004 rs376984643 |
444 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360890320 rs1375003146 |
447 | V>I | No |
ClinGen gnomAD |
|
|
rs766197810 CA3387002 |
448 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360890306 rs760398173 |
449 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3387001 rs760398173 |
449 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs772264882 CA3386999 |
451 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA360890294 rs772264882 |
451 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1303544839 CA360890279 |
453 | H>Q | No |
ClinGen TOPMed |
|
|
rs1182201409 CA360890281 |
453 | H>R | No |
ClinGen gnomAD |
|
|
rs1265052926 CA360890267 |
455 | C>G | No |
ClinGen gnomAD |
|
|
CA360890256 rs1369724587 |
456 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 456 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3386996 rs371963448 |
458 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3386994 rs769253960 |
459 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3386995 rs774259311 |
459 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336329939 CA360890225 |
461 | R>T | No |
ClinGen gnomAD |
|
|
rs1260675266 CA360890214 |
462 | S>R | No |
ClinGen gnomAD |
|
|
CA360890203 rs776098623 |
464 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3386993 rs749782429 |
464 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3386991 rs770285697 |
465 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3386990 rs746223431 |
466 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA3386988 rs777637331 |
468 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747744221 CA3386986 |
471 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs757957032 CA3386987 |
471 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1271435600 CA360890156 |
472 | I>V | No |
ClinGen TOPMed |
|
|
rs368962962 CA125975694 |
473 | N>S | No |
ClinGen ESP TOPMed |
|
|
rs778311900 CA3386985 |
475 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360904318 rs776153661 |
477 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA360904291 rs1554102930 |
479 | S>L | No |
ClinGen Ensembl |
|
|
rs746276860 CA3386953 |
480 | Y>H | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 480 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748534461 CA126016764 |
481 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs771278625 CA3386951 |
482 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1180200818 CA360904226 |
483 | F>L | No |
ClinGen TOPMed |
|
|
rs1372562778 CA360904215 |
484 | G>A | No |
ClinGen gnomAD |
|
|
rs1224629218 CA360904189 |
486 | A>P | No |
ClinGen gnomAD |
|
|
rs778565703 CA3386949 |
488 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA360904155 rs754462811 |
489 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1060128 rs754462811 CA3386948 |
489 | I>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs780030706 CA3386946 |
490 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs748785905 CA3386947 |
490 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1193704594 CA360904102 |
492 | N>D | No |
ClinGen gnomAD |
|
|
CA3386945 rs756012659 |
492 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs750263985 CA3386944 |
493 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA360904086 rs750263985 |
493 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3386943 rs150887058 |
495 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3386942 rs757036777 |
497 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs764318008 CA3386940 |
498 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199509467 CA3386941 |
498 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 500 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3386938 rs775681866 |
501 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA3386939 rs763011720 |
501 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446598515 CA360903973 |
502 | E>K | No |
ClinGen TOPMed |
|
|
rs765894433 CA3386937 |
503 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1281947536 CA360903949 |
504 | F>V | No |
ClinGen TOPMed |
|
|
rs1168522207 CA360903919 |
506 | P>A | No |
ClinGen gnomAD |
|
|
rs760143575 CA3386936 |
507 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs777240906 CA3386935 |
509 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs771208443 CA3386934 |
510 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA3386933 rs761044697 |
511 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs937726693 CA126016689 |
515 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs937726693 CA360903760 |
515 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs926322685 CA126016684 |
516 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs926322685 CA126016687 |
516 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1290481187 CA360903741 |
517 | M>I | No |
ClinGen gnomAD |
|
|
CA126016682 rs374881013 |
517 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3386930 rs374881013 |
517 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA126016679 rs866730286 |
518 | P>S | No |
ClinGen Ensembl |
|
|
CA126016680 rs866730286 |
518 | P>T | No |
ClinGen Ensembl |
|
|
CA360903721 rs1208081321 |
519 | H>Y | No |
ClinGen TOPMed |
|
|
rs1038886116 CA126016675 |
524 | T>I | No |
ClinGen TOPMed |
|
|
rs567550166 CA3386929 |
525 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1277485362 CA360903587 |
527 | R>M | No |
ClinGen gnomAD |
|
|
rs141456953 CA126016105 |
531 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA360902896 rs1580689793 |
534 | L>Q | No |
ClinGen Ensembl |
|
|
rs754412344 CA3386914 |
536 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA360902854 rs1259129820 |
537 | K>E | No |
ClinGen TOPMed |
|
|
rs761014693 CA3386912 |
537 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1443785334 CA360902828 |
538 | D>V | No |
ClinGen TOPMed |
|
|
rs369010893 CA3386911 |
540 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 540 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360902802 rs1562044828 |
540 | M>V | No |
ClinGen Ensembl |
|
|
rs768238299 CA3386910 |
541 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242161523 CA360902743 |
543 | D>G | No |
ClinGen TOPMed |
|
|
rs1463172136 CA360902715 |
545 | L>F | No |
ClinGen gnomAD |
|
|
CA3386909 rs762613427 |
546 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA126016077 rs775080726 |
549 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs371674914 CA3386905 |
553 | L>F | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs371674914 CA360902612 |
553 | L>I | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
| TCGA novel | 554 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs75289011 CA360902532 |
557 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360902503 rs1239931954 |
560 | E>V | No |
ClinGen gnomAD |
|
|
CA360902481 rs1447527912 |
561 | K>N | No |
ClinGen gnomAD |
|
|
rs752975504 CA3386900 |
561 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360902470 rs1562044573 |
562 | T>S | No |
ClinGen Ensembl |
|
|
CA3386898 rs756487380 |
563 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs756487380 CA360902466 |
563 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs374367966 CA3386897 |
563 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 564 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761218363 CA3386895 |
566 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA360902406 rs1369809855 |
568 | N>D | No |
ClinGen gnomAD |
|
|
CA360902400 rs1287244706 |
568 | N>S | No |
ClinGen gnomAD |
|
|
CA3386894 rs750844479 |
570 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs143794094 CA3386893 |
571 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1336252873 CA360902313 |
574 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3386890 rs138301591 |
575 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1311250316 CA360902263 |
577 | Y>* | No |
ClinGen TOPMed |
|
|
CA360902222 rs1416701964 |
580 | S>N | No |
ClinGen gnomAD |
|
|
rs1249847160 CA360902204 |
581 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3386888 rs776183973 |
581 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360902211 rs776183973 |
581 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460678993 CA360902179 |
583 | V>A | No |
ClinGen gnomAD |
|
|
CA3386887 rs770298645 |
583 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3386886 rs746999442 |
584 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA360902154 rs1580689356 |
585 | A>V | No |
ClinGen Ensembl |
|
|
rs147430819 CA3386884 |
587 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147430819 CA3386885 |
587 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3386865 rs747999879 |
590 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 592 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3386864 rs774262475 |
592 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA360901397 rs1580685899 |
593 | I>M | No |
ClinGen Ensembl |
|
|
rs768518754 CA3386863 |
593 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 594 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360901382 rs1580685883 |
595 | D>N | No |
ClinGen Ensembl |
|
|
rs749553262 CA3386862 |
597 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs765358238 CA126015091 |
597 | S>C | No |
ClinGen gnomAD |
|
|
CA360901304 rs1291952872 |
600 | V>L | No |
ClinGen TOPMed |
|
|
CA126015088 rs998151698 |
601 | T>I | No |
ClinGen Ensembl |
|
|
CA126015078 rs1036873540 |
602 | L>P | No |
ClinGen Ensembl |
|
|
CA3386861 VAR_046126 rs6595440 |
602 | L>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs866718944 CA126015076 |
603 | E>* | No |
ClinGen Ensembl |
|
|
CA3386860 rs756230385 |
604 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA126015072 rs377627968 |
605 | Y>D | No |
ClinGen ESP TOPMed |
|
|
rs745920911 CA3386859 |
606 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360901179 rs1166586504 |
608 | V>L | No |
ClinGen gnomAD |
|
|
rs150132498 CA3386856 |
611 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758625645 CA3386855 |
611 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3386857 rs150132498 |
611 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360901134 rs1176824560 |
612 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 613 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753544415 CA3386853 |
615 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA360901082 rs1253986770 |
615 | I>T | No |
ClinGen gnomAD |
|
|
rs760302565 CA360901067 |
616 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765938298 CA3386852 |
616 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3386851 rs760302565 |
616 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3386850 rs749927089 |
618 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3386847 rs774387293 |
619 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3386846 CA360901010 rs768499816 |
620 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA360900950 rs1580685259 |
621 | G>C | No |
ClinGen Ensembl |
|
|
rs766153970 CA3386823 |
622 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 622 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360900921 rs1580685235 |
624 | A>T | No |
ClinGen Ensembl |
|
|
rs372774629 CA3386821 |
625 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA360900888 rs1427214273 |
626 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1580685182 CA360900879 |
627 | Q>P | No |
ClinGen Ensembl |
|
|
CA3386820 rs771013646 |
629 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA126014961 rs202022407 |
631 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1030364887 CA126014958 |
632 | L>F | No |
ClinGen Ensembl |
|
|
CA126014954 rs1055949660 |
633 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3386816 rs748599073 |
634 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs748599073 CA3386817 |
634 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs755325505 CA3386814 |
637 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779171048 CA3386815 |
637 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360900763 rs779171048 |
637 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224640988 CA360900747 |
638 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1619364 CA360900731 rs1298206776 |
639 | S>L | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3386812 rs780931121 |
640 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs936140336 CA126014936 |
640 | E>A | No |
ClinGen TOPMed |
|
|
rs1380286069 CA360900718 |
640 | E>D | No |
ClinGen gnomAD |
|
|
CA360900728 rs780931121 |
640 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3386811 rs756882176 |
641 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs147996416 CA3386809 |
643 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145348334 CA3386808 |
645 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1376003380 CA360900654 |
645 | P>S | No |
ClinGen Ensembl |
|
|
rs140232423 CA3386806 |
646 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3386807 rs140232423 |
646 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3386805 rs759270074 |
646 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1157148556 CA360900636 |
647 | E>K | No |
ClinGen TOPMed |
|
|
CA3386803 rs766586795 |
648 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199951702 CA3386804 |
648 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3386801 rs773146730 |
649 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280274264 CA360900589 |
650 | E>Q | No |
ClinGen gnomAD |
|
|
CA360900563 rs1580684838 |
652 | K>E | No |
ClinGen Ensembl |
|
|
rs772146880 CA3386800 |
653 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA360900551 rs1394285215 |
653 | A>T | No |
ClinGen TOPMed |
|
|
rs1330829981 CA360900529 |
655 | L>F | No |
ClinGen TOPMed |
|
|
rs1350517275 CA360900435 |
661 | K>E | No |
ClinGen TOPMed |
|
|
rs748630636 CA3386799 |
661 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3386797 rs769152785 |
663 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3386798 rs774852104 |
663 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA360900399 rs1286037629 |
663 | M>T | No |
ClinGen TOPMed |
|
|
CA360900390 rs749655305 |
664 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781056063 CA3386795 |
664 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA360900364 rs1224496946 |
665 | E>D | No |
ClinGen TOPMed |
|
|
CA3386794 rs756937372 |
666 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA360900359 rs756937372 |
666 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3386793 rs746566779 |
667 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994943114 CA126014860 |
667 | I>V | No |
ClinGen TOPMed |
|
|
rs1389953170 CA360900311 |
668 | F>Y | No |
ClinGen gnomAD |
|
|
CA3386792 rs777170601 |
669 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA360900268 rs760405806 |
671 | Q>H | No |
ClinGen gnomAD |
|
|
CA360900183 rs1245691908 |
672 | L>M | No |
ClinGen gnomAD |
|
|
CA3386775 rs746672502 |
674 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3386774 rs200116398 |
675 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757905925 CA3386773 |
677 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1290114435 CA360900105 |
678 | A>T | No |
ClinGen TOPMed |
|
|
rs1252413192 CA360900092 |
679 | H>Y | No |
ClinGen gnomAD |
|
|
CA126014502 rs902931055 |
680 | M>I | No |
ClinGen gnomAD |
|
|
CA3386772 rs747691256 |
680 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747691256 CA126014503 |
680 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778759232 CA3386771 |
681 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3386770 rs754891421 COSM3826633 |
682 | A>V | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA360900026 rs1274353519 |
683 | L>F | No |
ClinGen gnomAD |
|
|
CA3386769 rs753729269 |
687 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs753729269 CA360899957 |
687 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779859282 CA3386768 |
692 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA3386767 rs755836377 |
692 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs146677236 CA3386766 |
694 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 694 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389891396 CA360899845 |
695 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs571724744 CA360899815 |
697 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1423784324 CA360899802 |
698 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 700 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478941973 CA360899764 |
700 | K>R | No |
ClinGen gnomAD |
|
|
CA3386740 rs757477028 |
702 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA360899090 rs1378955021 |
702 | V>M | No |
ClinGen gnomAD |
|
|
CA3386739 rs751681726 |
703 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1430290575 CA360899068 |
704 | E>G | No |
ClinGen gnomAD |
|
|
rs1167424722 CA360899074 |
704 | E>K | No |
ClinGen gnomAD |
|
|
rs373838092 CA3386738 |
705 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360899055 rs373838092 |
705 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1580676581 CA360899050 |
706 | T>A | No |
ClinGen Ensembl |
|
|
CA3386736 rs144490830 |
708 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360899007 rs1182650395 |
710 | G>E | No |
ClinGen gnomAD |
|
|
rs765835879 CA3386735 |
711 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360898974 rs1279805679 |
713 | Q>H | No |
ClinGen TOPMed |
|
|
rs1018565997 CA126012438 |
713 | Q>K | No |
ClinGen TOPMed |
|
|
rs1204563273 CA360898977 |
713 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 714 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483451719 CA360898963 |
714 | K>N | No |
ClinGen gnomAD |
|
|
rs1562032662 CA360898972 |
714 | K>Q | No |
ClinGen Ensembl |
|
|
CA360898958 rs1487529677 |
715 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs989167861 CA126012433 |
717 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1321482629 CA360898941 |
717 | I>V | No |
ClinGen gnomAD |
|
|
CA126012413 rs891338561 |
720 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs552760651 CA3386730 |
722 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360898884 rs773930908 |
722 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3386729 rs773930908 |
722 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360898866 rs1301209506 |
724 | Q>* | No |
ClinGen gnomAD |
|
|
rs768163500 CA360898858 |
724 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360898863 rs1457396372 |
724 | Q>P | No |
ClinGen gnomAD |
|
|
rs184433622 CA126012405 |
725 | Q>E | No |
ClinGen 1000Genomes |
|
|
rs560737688 CA3386727 |
725 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360898850 rs1166655809 |
725 | Q>R | No |
ClinGen gnomAD |
|
|
rs780030615 CA3386726 |
727 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1181779136 CA360898829 |
727 | A>V | No |
ClinGen gnomAD |
|
|
CA360898824 rs1562032322 |
728 | S>N | No |
ClinGen Ensembl |
|
|
CA3386724 rs745696466 |
729 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458869066 CA360898807 |
730 | E>K | No |
ClinGen TOPMed |
|
|
rs1266366857 CA360898791 |
731 | S>L | No |
ClinGen gnomAD |
|
|
CA360898797 rs1562032262 |
731 | S>T | No |
ClinGen Ensembl |
|
|
CA360898732 rs77866854 |
733 | L>F | No |
ClinGen TOPMed |
|
|
rs77866854 CA126011920 |
733 | L>I | No |
ClinGen TOPMed |
|
|
rs754378673 CA3386694 |
733 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs766787576 CA3386693 |
735 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763787298 CA3386690 |
744 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA3386689 rs376401743 |
744 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1253616409 CA360898591 |
746 | R>W | No |
ClinGen gnomAD |
|
|
rs758912912 CA3386684 |
747 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1257259611 CA360898569 |
749 | Q>K | No |
ClinGen gnomAD |
|
|
rs776697238 CA3386683 |
749 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs770742339 CA3386682 |
751 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA360898536 rs1338530147 |
752 | Q>K | No |
ClinGen gnomAD |
|
|
rs773162369 CA3386680 |
752 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3386679 rs771949596 |
753 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA126011818 rs961591953 |
753 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA360898509 rs781639162 |
755 | I>L | No |
ClinGen Ensembl |
|
|
rs781639162 CA126011812 |
755 | I>V | No |
ClinGen Ensembl |
|
|
CA3386677 rs1005671778 |
756 | R>C | No |
ClinGen TOPMed |
|
|
rs74938108 CA3386676 |
756 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360898494 rs1428337491 |
757 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 757 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360898479 rs1207159609 |
758 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778941262 CA3386675 |
759 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA126011777 rs147259841 |
762 | C>G | No |
ClinGen ESP |
|
|
rs1367148174 CA360898427 |
762 | C>Y | No |
ClinGen gnomAD |
|
|
CA3386673 rs749327918 |
763 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3386671 rs756593532 |
764 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780654293 CA3386672 |
764 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1261149615 CA360898399 |
766 | V>I | No |
ClinGen gnomAD |
|
|
CA360898386 rs1482472714 |
767 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1232431478 CA360898392 |
767 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA917572367 rs1580674319 |
767 | E>VNYFS* | No |
ClinGen Ensembl |
|
|
CA3386668 rs757553206 |
769 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA126011751 rs1042044017 |
770 | R>K | No |
ClinGen TOPMed |
|
|
rs752408297 CA3386667 |
771 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360898318 rs1341328678 |
774 | K>R | No |
ClinGen gnomAD |
|
|
rs1408055072 CA360898300 |
776 | L>F | No |
ClinGen gnomAD |
|
|
rs145499906 CA3386662 |
777 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3386660 rs139865050 |
778 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3386661 rs200477463 |
778 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360898274 rs200477463 |
778 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761683300 CA3386659 |
779 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA360898243 rs1562030073 |
781 | H>R | No |
ClinGen Ensembl |
|
|
CA3386658 COSM1486243 rs774705290 |
782 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3386657 COSM1060125 rs768733124 |
782 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs768733124 CA360898233 |
782 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360898228 rs1249074092 |
783 | L>F | No |
ClinGen TOPMed |
|
|
rs780022174 CA3386655 |
786 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs780022174 CA360898190 |
786 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs775625012 CA3386638 |
787 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1268800291 CA360898050 |
788 | N>S | No |
ClinGen gnomAD |
|
|
CA3386637 rs769877354 |
789 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA360898045 rs769877354 |
789 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA360898037 rs1418160509 |
790 | A>S | No |
ClinGen TOPMed |
|
|
CA126008523 rs147467090 |
790 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 791 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1562022374 CA360898006 |
794 | Y>C | No |
ClinGen Ensembl |
|
|
rs1433848202 CA360897991 |
796 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs777188827 CA3386634 |
796 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs552076257 CA3386632 |
798 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360897981 rs552076257 |
798 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs865959521 CA126008497 |
799 | K>E | No |
ClinGen Ensembl |
|
|
rs747501393 CA3386631 |
800 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA360897966 rs747501393 |
800 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3386629 rs758721098 |
803 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs919081996 CA126008470 |
804 | F>L | No |
ClinGen Ensembl |
|
|
CA3386627 rs748904632 |
806 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA126008469 rs901176565 |
807 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs779835288 CA3386626 |
807 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs141424761 CA126008465 |
808 | Q>E | No |
ClinGen ESP TOPMed |
|
|
rs755748028 CA3386625 |
811 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA360897825 rs1218289301 |
812 | P>S | No |
ClinGen gnomAD |
|
|
rs757166785 CA3386622 |
815 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142792779 CA3386621 |
815 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1228099402 CA360897763 |
817 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA360897767 rs1228099402 |
817 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1207137767 CA360897715 |
820 | I>R | No |
ClinGen TOPMed |
|
|
CA3386618 rs775747603 |
820 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA126008431 rs1050246488 |
822 | L>I | No |
ClinGen TOPMed |
|
|
rs1412286610 CA360897698 |
823 | L>F | No |
ClinGen Ensembl |
|
|
rs776713978 CA3386615 |
824 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776713978 CA360897690 |
824 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752458010 CA3386600 |
828 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 828 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 832 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 832 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3386599 rs764961161 |
833 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA360897030 rs1422238452 |
834 | L>M | No |
ClinGen gnomAD |
|
|
rs759784931 CA3386598 |
835 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA360897013 rs1432457174 |
835 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1432457174 CA360897012 |
835 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3386597 rs753990487 |
838 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 839 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360896960 rs1191887887 |
839 | K>R | No |
ClinGen TOPMed |
|
|
rs766382269 CA3386596 |
841 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs760792250 CA3386595 |
841 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA126002052 rs951850572 |
843 | H>L | No |
ClinGen TOPMed |
|
|
RCV001268428 rs1770319706 |
844 | Y>missing | No |
ClinVar dbSNP |
|
|
CA360896918 rs1562009472 |
844 | Y>H | No |
ClinGen Ensembl |
|
|
rs1326586092 CA360896866 |
848 | W>* | No |
ClinGen gnomAD |
|
|
rs1253395570 CA360896855 |
849 | G>E | No |
ClinGen gnomAD |
|
|
rs772596480 CA3386593 |
850 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772596480 CA3386594 |
850 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs762321074 CA3386592 |
850 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 853 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360896808 COSM1060123 rs1273417578 |
854 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1234808941 CA360896807 |
854 | E>G | No |
ClinGen gnomAD |
|
|
CA3386591 rs774882184 |
856 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1287158541 CA360896776 |
857 | R>I | No |
ClinGen gnomAD |
|
|
CA360896766 rs1391862692 |
858 | L>H | No |
ClinGen gnomAD |
|
|
CA126002039 rs1050025164 |
858 | L>V | No |
ClinGen TOPMed |
|
|
CA126002033 rs28369320 |
860 | Q>R | No |
ClinGen Ensembl |
|
|
rs778683092 CA360895202 |
862 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA3386578 rs778683092 |
862 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA360895149 rs1460387393 |
866 | Q>R | No |
ClinGen TOPMed |
|
|
rs754114492 CA3386576 |
867 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs754709593 CA3386577 |
867 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3386575 rs371666277 |
869 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771132137 CA3386574 |
869 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253973441 CA360895089 |
872 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 872 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA125992056 rs963767744 |
873 | Q>H | No |
ClinGen TOPMed |
|
|
CA3386572 rs767450821 |
873 | Q>K | No |
ClinGen ExAC |
|
|
CA360895071 rs1580622446 |
873 | Q>R | No |
ClinGen Ensembl |
|
|
CA360895052 rs1247000662 |
875 | E>K | No |
ClinGen gnomAD |
|
|
rs762445605 CA3386571 |
876 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs200061679 CA3386570 |
878 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360895001 rs1366881820 |
879 | Q>* | No |
ClinGen TOPMed |
|
|
rs1047437 CA3386569 VAR_046127 |
879 | Q>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1253756929 CA360894999 |
879 | Q>R | No |
ClinGen gnomAD |
|
|
rs1225858943 CA360894984 |
880 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs763397454 CA360894992 |
880 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360894986 rs1305599231 |
880 | M>T | No |
ClinGen gnomAD |
|
|
rs763397454 CA3386568 |
880 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140306974 CA360894961 |
883 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3386566 rs368260761 |
883 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA125992044 rs368260761 |
883 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746550279 CA3386565 |
884 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs952982583 CA125992037 |
885 | L>I | No |
ClinGen TOPMed |
|
|
rs370748677 CA3386563 |
887 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360894911 rs1561987254 |
888 | E>K | No |
ClinGen Ensembl |
|
|
rs754830593 CA3386560 |
889 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA3386561 rs754830593 |
889 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 891 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1580622172 CA360894829 |
895 | T>I | No |
ClinGen Ensembl |
|
|
rs780184609 CA3386557 |
896 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360894823 rs780184609 |
896 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777687497 COSM448506 CA125991991 |
897 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs531728977 CA3386556 |
897 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772210718 CA125991988 |
898 | Q>P | No |
ClinGen Ensembl |
|
|
rs1166755572 CA360894794 |
899 | E>K | No |
ClinGen TOPMed |
|
|
CA3386555 rs750575622 |
900 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA3386554 rs767642497 |
901 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs747974605 CA125991986 |
901 | L>S | No |
ClinGen Ensembl |
|
|
CA3386552 rs752171934 |
902 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs757357277 CA3386553 |
902 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs757357277 CA360894759 |
902 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3386551 rs138517071 |
903 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM279822 rs763451025 CA3386550 |
904 | R>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA360894727 rs1228371775 |
905 | N>S | No |
ClinGen gnomAD |
|
|
rs1580621953 CA360894675 |
909 | R>M | No |
ClinGen Ensembl |
|
|
rs1356108727 CA360894308 |
913 | Q>* | No |
ClinGen gnomAD |
|
|
rs535548039 CA125989755 |
913 | Q>H | No |
ClinGen Ensembl |
|
|
CA3386529 rs753078173 |
917 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA360894248 rs1378707010 |
918 | Y>N | No |
ClinGen TOPMed |
|
|
rs1400834336 CA360894228 |
919 | Q>H | No |
ClinGen Ensembl |
|
|
CA360894203 rs1227601379 |
921 | S>F | No |
ClinGen TOPMed |
|
|
rs765648132 CA3386528 |
923 | E>* | No |
ClinGen ExAC |
|
|
CA360894185 rs1411996197 |
923 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3386527 rs767823007 |
924 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374325373 CA3386526 |
925 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1461641050 CA360894156 |
926 | S>N | No |
ClinGen gnomAD |
|
|
CA3386525 rs144585191 |
927 | G>E | No |
ClinGen ESP ExAC |
|
|
rs1350918549 CA360894140 |
928 | K>E | No |
ClinGen TOPMed |
|
|
rs773869647 CA3386523 |
929 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs749257683 CA3386521 |
933 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1252165679 CA360894059 |
935 | S>G | No |
ClinGen gnomAD |
|
|
rs538670405 CA3386519 |
935 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3386517 VAR_046128 rs2303721 |
936 | V>I | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
|
rs757533375 CA3386516 |
938 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757533375 CA360894027 |
938 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3386515 rs747180394 |
939 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 939 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280633208 CA360894007 |
940 | G>S | No |
ClinGen gnomAD |
|
|
CA125989646 rs1047438 |
942 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360893986 rs1580615500 |
942 | D>N | No |
ClinGen Ensembl |
|
|
CA3386512 rs758349807 |
943 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758349807 CA360893970 |
943 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436729854 CA360893960 |
944 | Y>H | No |
ClinGen TOPMed |
|
|
CA125989640 rs890197433 |
945 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
rs2303720 VAR_046129 CA3386510 |
947 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3386511 rs2303720 |
947 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375142939 CA125989607 |
949 | I>L | No |
ClinGen ESP TOPMed |
|
|
rs1156559479 CA360893905 |
949 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360893902 rs1156559479 |
949 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA360893898 rs1399616190 |
950 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 950 | E>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360893869 rs1231061881 |
952 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs370748348 CA3386506 |
954 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 954 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360893787 rs1194052004 |
958 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1255118536 CA360893779 |
959 | G>V | No |
ClinGen gnomAD |
|
|
rs763609517 CA360893775 |
960 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs763609517 CA3386504 |
960 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs142459804 CA3386502 |
963 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360893753 rs1207534207 |
963 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3386501 rs149191240 |
964 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA360893736 rs1225931771 |
965 | D>G | No |
ClinGen gnomAD |
|
|
CA3386500 rs759424375 |
966 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776592660 CA3386499 |
967 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1235437813 CA360893722 |
968 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3386497 rs747245800 |
972 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360893693 rs747245800 |
972 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429610035 CA360893690 |
972 | D>V | No |
ClinGen gnomAD |
|
|
rs201560025 CA3386496 |
973 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360893685 rs531202237 |
973 | R>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA125989591 rs531202237 |
973 | R>Q | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 974 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360893670 rs147730520 |
975 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145436175 CA3386494 |
976 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360893629 COSM274513 rs1388103552 |
981 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3386492 rs755457555 |
983 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs754300502 CA3386491 |
984 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3386490 rs780399076 |
985 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1580615005 CA360893595 |
986 | N>I | No |
ClinGen Ensembl |
|
|
CA3386489 rs377634928 |
987 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q8N960
4 regional properties for Q8N960
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| centriole | A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein C-terminus binding | Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| astral microtubule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of astral microtubules, any of the spindle microtubules that radiate in all directions from the spindle poles. |
| centrosome cycle | The cell cycle process in which centrosome duplication and separation takes place. The centrosome cycle can operate with a considerable degree of independence from other processes of the cell cycle. |
| cerebral cortex development | The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon. |
| interkinetic nuclear migration | The movement of the nucleus of the ventricular zone cell between the apical and the basal zone surfaces. Mitosis occurs when the nucleus is near the apical surface, that is, the lumen of the ventricle. |
| neurogenesis | Generation of cells within the nervous system. |
| positive regulation of centriole elongation | Any process that activates or increases the frequency, rate or extent of centriole elongation. |
| positive regulation of centrosome duplication | Any process that increases the frequency, rate or extent of centrosome duplication. Centrosome duplication is the replication of a centrosome, a structure comprised of a pair of centrioles and peri-centriolar material from which a microtubule spindle apparatus is organized. |
| positive regulation of cilium assembly | Any process that activates or increases the frequency, rate or extent of the formation of a cilium. |
| positive regulation of establishment of protein localization | Any process that activates or increases the frequency, rate or extent of establishment of protein localization. |
| stem cell proliferation | The multiplication or reproduction of stem cells, resulting in the expansion of a stem cell population. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7TSG1 | Cep120 | Centrosomal protein of 120 kDa | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVSKSDQLLI | VVSILEGRHF | PKRPKHMLVV | EAKFDGEQLA | TDPVDHTDQP | EFATELAWEI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DRKALHQHRL | QRTPIKLQCF | ALDPVTSAKE | TIGYIVLDLR | TAQETKQAPK | WYQLLSNKYT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KFKSEIQISI | ALETDTKPPV | DSFKAKGAPP | RDGKVPAILA | GLDPRDIVAV | LNEEGGYHQI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GPAEYCTDSF | IMSVTIAFAT | QLEQLIPCTM | KLPERQPEFF | FYYSLLGNDV | TNEPFNDLIN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PNFEPERASV | RIRSSVEILR | VYLALQSKLQ | IHLCCGDQSL | GSTEIPLTGL | LKKGSTEINQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HPVTVEGAFT | LDPPNRAKQK | LAPIPVELAP | TVGVSVALQR | EGIDSQSLIE | LKTQNEHEPE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HSKKKVLTPI | KEKTLTGPKS | PTVSPVPSHN | QSPPTKDDAT | ESEVESLQYD | KDTKPNPKAS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SSVPASLAQL | VTTSNASEVA | SGQKIAVPAT | SHHFCFSIDL | RSIHALEIGF | PINCILRYSY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PFFGSAAPIM | TNPPVEVRKN | MEVFLPQSYC | AFDFATMPHQ | LQDTFLRIPL | LVELWHKDKM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SKDLLLGIAR | IQLSNILSSE | KTRFLGSNGE | QCWRQTYSES | VPVIAAQGSN | NRIADLSYTV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TLEDYGLVKM | REIFISDSSQ | GVSAVQQKPS | SLPPAPCPSE | IQTEPRETLE | YKAALELEMW |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KEMQEDIFEN | QLKQKELAHM | QALAEEWKKR | DRERESLVKK | KVAEYTILEG | KLQKTLIDLE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KREQQLASVE | SELQREKKEL | QSERQRNLQE | LQDSIRRAKE | DCIHQVELER | LKIKQLEEDK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| HRLQQQLNDA | ENKYKILEKE | FQQFKDQQNN | KPEIRLQSEI | NLLTLEKVEL | ERKLESATKS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KLHYKQQWGR | ALKELARLKQ | REQESQMARL | KKQQEELEQM | RLRYLAAEEK | DTVKTERQEL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LDIRNELNRL | RQQEQKQYQD | STEIASGKKD | GPHGSVLEEG | LDDYLTRLIE | ERDTLMRTGV |
| 970 | 980 | ||||
| YNHEDRIISE | LDRQIREILA | KSNASN |