Q96RT8
PR
Gene name |
TUBGCP5 (GCP5, KIAA1899) |
Protein name |
Gamma-tubulin complex component 5 |
Names |
GCP-5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:114791 |
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
21 structures for Q96RT8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6L81 | X-ray | 220 A | A/C | 1-119 | PDB |
| 6V69 | EM | 420 A | J | 1-1024 | PDB |
| 6V6S | EM | 430 A | J | 1-1024 | PDB |
| 7AS4 | EM | 413 A | J | 1-1024 | PDB |
| 7QJ0 | EM | 532 A | J/l | 1-1024 | PDB |
| 7QJ1 | EM | 700 A | J/l | 1-1024 | PDB |
| 7QJ2 | EM | 860 A | J/l | 1-1024 | PDB |
| 7QJ3 | EM | 760 A | J/l | 1-1024 | PDB |
| 7QJ4 | EM | 900 A | J/l | 1-1024 | PDB |
| 7QJ5 | EM | 870 A | J/l | 1-1024 | PDB |
| 7QJ6 | EM | 780 A | J/l | 1-1024 | PDB |
| 7QJ7 | EM | 870 A | J/l | 1-1024 | PDB |
| 7QJ8 | EM | 870 A | J/l | 1-1024 | PDB |
| 7QJ9 | EM | 810 A | J/l | 1-1024 | PDB |
| 7QJA | EM | 920 A | J/l | 1-1024 | PDB |
| 7QJB | EM | 920 A | J/l | 1-1024 | PDB |
| 7QJC | EM | 1610 A | J/l | 1-1024 | PDB |
| 7QJD | EM | 710 A | J/l | 1-1024 | PDB |
| 7QJE | EM | 780 A | J | 1-1024 | PDB |
| 8Q62 | EM | 372 A | J | 1-1024 | PDB |
| AF-Q96RT8-F1 | Predicted | AlphaFoldDB |
854 variants for Q96RT8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA391313107 RCV000627063 rs1555436162 |
727 | F>C | Microcephaly [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7423054 rs756322332 |
2 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA267647528 rs773613527 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780446681 CA7423055 |
3 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391331702 rs749324731 |
3 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA7423056 rs749324731 |
3 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA391331709 rs780446681 |
3 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7423058 rs755112473 |
4 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs771740075 CA391331673 CA267647512 |
4 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748173821 CA7423059 |
4 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7423057 rs755112473 |
4 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777661174 CA7423061 |
5 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866729330 CA391331669 CA391331670 |
5 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs866729330 CA267647494 |
5 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA7423063 rs374208223 |
6 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7423064 rs374208223 |
6 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 7 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs574203342 CA7423066 |
7 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391331636 rs574203342 |
7 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7423067 rs574203342 |
7 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201313425 CA7423065 |
7 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767942242 CA7423070 |
8 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1325265394 CA391331602 |
8 | W>S | No |
ClinGen gnomAD |
|
|
CA391331588 rs1278287449 |
9 | S>N | No |
ClinGen gnomAD |
|
|
CA391331569 rs1207734957 |
10 | R>P | No |
ClinGen TOPMed |
|
|
CA7423072 rs750751827 |
10 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7423074 rs754179385 CA391331514 |
12 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7423073 rs766641480 |
12 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs755093930 CA7423075 |
13 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA391331461 rs1193737981 |
14 | Q>H | No |
ClinGen gnomAD |
|
|
rs375288021 CA391331471 |
14 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375288021 CA7423077 |
14 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391331390 rs1246116266 |
18 | D>G | No |
ClinGen TOPMed |
|
|
rs758313293 CA7423078 |
19 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs367581124 CA391331354 |
20 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1295723803 CA391331350 |
20 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs367581124 CA267647438 |
20 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7423080 rs746757405 |
21 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 21 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391331340 rs1383171680 |
21 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs770782750 CA267647418 |
22 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA391331317 rs1459995785 |
22 | L>P | No |
ClinGen TOPMed |
|
|
rs770782750 CA7423081 |
22 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7423083 rs745571227 |
23 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs563107079 CA267647398 |
24 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA7423084 rs769265721 |
25 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA267647397 rs769265721 |
25 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391331278 rs1322016594 |
25 | G>R | No |
ClinGen gnomAD |
|
|
rs1567179688 CA391331267 |
26 | V>F | No |
ClinGen Ensembl |
|
|
CA267647393 rs989788291 |
27 | A>G | No |
ClinGen TOPMed |
|
|
CA7423086 rs762394183 |
27 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs866592104 CA267647389 |
28 | G>D | No |
ClinGen gnomAD |
|
|
CA391331207 rs1330763716 |
30 | Q>H | No |
ClinGen TOPMed |
|
|
rs772573724 CA7423087 |
31 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391331168 rs1185975882 |
33 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA391331162 rs1451638546 |
33 | A>V | No |
ClinGen TOPMed |
|
|
CA391331152 rs1424620865 |
34 | D>Y | No |
ClinGen gnomAD |
|
|
CA391331122 rs1472165653 |
35 | P>L | No |
ClinGen TOPMed |
|
|
CA7423089 rs761115311 |
36 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA7423092 CA391331085 rs758290609 |
37 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391331073 rs1363067196 |
38 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7423094 rs765406124 |
39 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7423093 rs765406124 |
39 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764022602 CA267647349 |
40 | A>P | No |
ClinGen ExAC TOPMed |
|
|
CA7423097 rs764022602 |
40 | A>S | No |
ClinGen ExAC TOPMed |
|
|
rs764022602 CA391331048 |
40 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs757026119 CA7423099 |
42 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA267647334 rs1048333231 |
43 | F>L | No |
ClinGen TOPMed |
|
|
rs150671482 CA391330975 |
44 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150671482 CA7423100 RCV000890547 |
44 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7423102 rs755715700 |
45 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA267647305 rs896329856 |
46 | S>F | No |
ClinGen TOPMed |
|
|
rs748766914 CA7423104 |
47 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748766914 CA391330909 |
47 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313859288 CA391330866 |
49 | R>K | No |
ClinGen gnomAD |
|
|
CA7423131 rs770120813 |
50 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA391330436 rs1439952403 |
51 | H>L | No |
ClinGen gnomAD |
|
|
CA267645867 rs536419515 |
51 | H>N | No |
ClinGen 1000Genomes |
|
|
CA7423132 rs775762366 |
52 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs143778036 CA7423134 |
52 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143778036 CA7423133 |
52 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1444576972 CA391330403 |
54 | L>F | No |
ClinGen TOPMed |
|
|
rs761894583 CA7423136 |
56 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs750429373 CA7423139 |
57 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750429373 CA7423138 |
57 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391330360 rs1260281361 |
58 | S>R | No |
ClinGen gnomAD |
|
|
CA267645838 rs146471038 |
61 | I>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7423140 rs146471038 |
61 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 62 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139861476 CA7423141 |
62 | E>K | No |
ClinGen 1000Genomes ExAC |
|
|
CA391330297 rs1221367714 |
64 | T>A | No |
ClinGen gnomAD |
|
|
rs1247653908 CA391330294 |
64 | T>I | No |
ClinGen gnomAD |
|
|
CA391330292 rs1247653908 |
64 | T>K | No |
ClinGen gnomAD |
|
| TCGA novel | 64 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 64 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391330291 rs1247653908 |
64 | T>R | No |
ClinGen gnomAD |
|
|
rs1489757974 CA391330288 |
65 | I>V | No |
ClinGen gnomAD |
|
|
rs758752632 CA7423144 |
66 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315982494 CA391330271 |
67 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA391330221 rs1285743626 |
69 | Y>C | No |
ClinGen gnomAD |
|
|
rs1420066502 CA391330208 |
70 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 70 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773235533 CA7423176 |
71 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1298538560 CA391330163 |
74 | I>T | No |
ClinGen Ensembl |
|
|
CA7423177 rs148906556 |
74 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7423178 rs770711815 |
75 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776631151 CA391330125 |
77 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA267645712 rs1029868810 |
78 | L>V | No |
ClinGen TOPMed |
|
|
rs1237585867 CA391330114 |
79 | S>C | No |
ClinGen TOPMed |
|
|
rs186510547 CA7423180 |
80 | K>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765178257 CA7423181 |
83 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391330050 rs1219248684 |
84 | W>* | No |
ClinGen TOPMed |
|
|
CA391330040 rs1468269340 |
85 | K>R | No |
ClinGen gnomAD |
|
|
CA7423182 rs371479540 |
86 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7423183 rs762657607 |
87 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1007639596 CA267645695 |
88 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 90 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 92 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423184 rs201798693 |
94 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA391329900 rs766791904 |
97 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7423187 rs766791904 |
97 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1361180210 CA391329892 |
98 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7423188 rs546159988 |
98 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7423189 rs755315613 |
98 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA391329889 rs1361180210 |
98 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779288824 CA7423190 |
99 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242984122 CA391329827 |
101 | E>G | No |
ClinGen gnomAD |
|
|
rs1160258508 CA391329838 |
101 | E>K | No |
ClinGen TOPMed |
|
|
rs1273619927 CA391329809 |
102 | I>M | No |
ClinGen gnomAD |
|
|
CA391329392 rs1452117943 |
105 | D>G | No |
ClinGen gnomAD |
|
|
rs1200844818 CA391329383 |
106 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1476903526 CA391329378 |
107 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs768554804 CA7423222 |
110 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs761568096 CA7423224 |
111 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs956232888 CA267642990 |
113 | L>F | No |
ClinGen TOPMed |
|
|
CA391329342 rs772727272 |
113 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs772727272 CA7423226 |
113 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs750978950 CA267642954 |
116 | C>R | No |
ClinGen Ensembl |
|
|
rs1595906160 CA391329323 |
116 | C>W | No |
ClinGen Ensembl |
|
|
rs1242081292 CA391329316 |
118 | S>P | No |
ClinGen gnomAD |
|
|
CA391329317 rs1242081292 |
118 | S>T | No |
ClinGen gnomAD |
|
|
rs142215983 CA7423234 |
119 | D>N | Variant assessed as Somatic; 9.343e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA391329300 rs1436197846 |
120 | S>C | No |
ClinGen TOPMed |
|
|
rs751697977 CA7423237 |
121 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1487912787 CA391329297 |
121 | P>L | No |
ClinGen gnomAD |
|
|
rs751697977 CA7423236 |
121 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA7423238 rs373572376 |
122 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs905860571 CA267642940 CA267642941 |
123 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1263910180 CA391329282 |
124 | S>G | No |
ClinGen gnomAD |
|
|
rs1044350713 CA267642937 |
124 | S>T | No |
ClinGen Ensembl |
|
|
rs1478932547 CA391329270 |
125 | S>R | No |
ClinGen gnomAD |
|
|
rs1345700827 CA391329262 |
126 | Y>* | No |
ClinGen TOPMed |
|
|
CA391329263 rs1185628030 |
126 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1225259622 CA391329259 |
127 | V>M | No |
ClinGen TOPMed |
|
|
CA7423239 rs750465001 |
129 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 130 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 132 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595905918 TCGA novel CA391329228 |
132 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA267642909 rs558590946 |
133 | K>E | No |
ClinGen 1000Genomes gnomAD |
|
|
CA7423243 rs145933936 |
135 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754893350 CA7423263 |
137 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7423264 rs778728660 |
138 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1356745201 CA391328877 |
138 | K>T | No |
ClinGen TOPMed |
|
|
CA391328853 rs1298924235 |
140 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7423266 rs563540618 |
142 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1205747020 CA391328772 |
145 | K>I | No |
ClinGen gnomAD |
|
|
CA391328775 rs1205747020 |
145 | K>R | No |
ClinGen gnomAD |
|
|
rs776076722 CA7423270 |
148 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770394330 CA7423269 |
148 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs745386110 CA7423271 |
149 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431939383 CA391328704 |
149 | E>G | No |
ClinGen gnomAD |
|
|
CA391328688 rs1226966097 |
150 | D>G | No |
ClinGen TOPMed |
|
|
rs1026291161 CA267642592 |
150 | D>N | No |
ClinGen Ensembl |
|
|
rs762937995 CA267642587 |
154 | D>A | No |
ClinGen Ensembl |
|
|
rs1328819772 CA391328583 |
156 | G>S | No |
ClinGen gnomAD |
|
|
CA7423274 rs371086875 |
157 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA391328559 rs371086875 |
157 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA267642574 rs573311796 |
158 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1246362542 CA391328535 |
159 | M>V | No |
ClinGen TOPMed |
|
|
CA7423302 rs758291143 |
163 | N>S | No |
ClinGen ExAC TOPMed |
|
|
rs988057405 CA267642135 |
164 | W>L | No |
ClinGen Ensembl |
|
|
CA7423303 rs764038748 |
165 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs989183717 CA267642127 |
166 | E>K | No |
ClinGen TOPMed |
|
|
rs1160996742 CA391328186 |
170 | E>G | No |
ClinGen TOPMed |
|
|
CA7423306 rs780810091 |
170 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 172 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391328119 rs1367378611 |
172 | N>S | No |
ClinGen gnomAD |
|
|
CA391328064 rs1296490644 |
174 | Q>R | No |
ClinGen gnomAD |
|
|
CA7423308 rs376773828 |
175 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1272179217 CA391327785 CA391327782 |
185 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 187 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423310 rs200815257 |
187 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA267642064 rs867710758 |
189 | T>A | No |
ClinGen TOPMed |
|
|
CA7423312 rs772651127 |
190 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771477025 CA7423315 |
191 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA391327590 rs1374564972 |
194 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 195 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 195 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776889859 CA7423316 |
197 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7423317 rs759717000 |
198 | R>S | No |
ClinGen ExAC |
|
|
CA7423318 rs770084780 |
201 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 201 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775382508 CA7423320 |
202 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1405299133 CA391327492 |
202 | P>L | No |
ClinGen TOPMed |
|
|
CA7423319 rs775382508 |
202 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1472224284 CA391327485 |
203 | C>F | No |
ClinGen gnomAD |
|
|
CA267642033 rs986994507 |
204 | I>V | No |
ClinGen TOPMed |
|
|
CA391327464 rs1182304976 |
205 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746216761 CA7423354 |
208 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs746216761 CA391326565 |
208 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA267639697 rs113937971 |
209 | E>G | No |
ClinGen Ensembl |
|
|
rs756561461 CA7423355 |
209 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1469336901 CA391326528 |
210 | P>R | No |
ClinGen TOPMed |
|
|
rs376024134 CA7423357 |
211 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376024134 CA7423358 |
211 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376024134 CA391326512 |
211 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA267639675 rs979749341 |
213 | R>G | No |
ClinGen TOPMed |
|
|
rs774369754 CA7423359 |
213 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA391326477 rs1474469735 |
214 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 217 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423362 rs773264691 |
218 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1395918670 CA391326379 |
219 | H>R | No |
ClinGen TOPMed |
|
|
CA391326314 rs1452676563 |
222 | H>R | No |
ClinGen gnomAD |
|
|
CA391326275 rs1464262332 |
225 | W>R | No |
ClinGen gnomAD |
|
|
rs776388294 CA7423365 |
231 | Q>* | No |
ClinGen ExAC |
|
|
rs73409389 CA7423366 |
231 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1397635381 CA391326132 |
233 | P>L | No |
ClinGen gnomAD |
|
|
CA391326119 rs370426563 |
234 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7423367 rs370426563 |
234 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370426563 CA391326116 |
234 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7423369 rs150408740 |
237 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750990485 CA7423371 |
239 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs184459188 CA7423372 |
240 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA391326011 rs1292572452 |
241 | N>D | No |
ClinGen TOPMed |
|
|
CA391325954 rs1229495974 |
245 | V>I | No |
ClinGen TOPMed |
|
|
CA391325934 rs1251721196 |
246 | W>L | No |
ClinGen gnomAD |
|
|
rs928759723 CA267635885 |
247 | D>N | No |
ClinGen gnomAD |
|
|
CA7423391 rs751061960 |
248 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391325083 rs1567153403 |
249 | H>R | No |
ClinGen Ensembl |
|
|
CA391325100 rs1407206264 |
249 | H>Y | No |
ClinGen TOPMed |
|
|
rs368438507 CA7423393 |
251 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 254 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391324921 rs1408954317 |
255 | P>R | No |
ClinGen TOPMed |
|
|
CA391324884 rs1221268915 |
256 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA391324898 rs766889238 |
256 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs766889238 CA7423394 |
256 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA391324879 rs1352197119 |
257 | Y>H | No |
ClinGen TOPMed |
|
|
rs145668941 RCV000971405 CA7423395 |
258 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1333323295 CA391324770 |
262 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 262 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423396 rs755405540 |
262 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 263 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753009262 CA7423398 |
265 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391324670 rs1341048385 |
266 | T>A | No |
ClinGen TOPMed |
|
|
rs549962518 CA7423399 |
267 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1352823681 CA391324654 |
267 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs777865631 CA7423400 |
268 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1487005696 CA391324605 |
269 | Q>* | No |
ClinGen gnomAD |
|
|
CA267635798 rs948982897 |
271 | I>V | No |
ClinGen TOPMed |
|
|
CA391324513 rs1242962963 |
272 | R>G | No |
ClinGen gnomAD |
|
|
CA7423402 rs770933726 |
272 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 272 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199607815 CA7423403 |
274 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1238603479 CA391324452 |
275 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 276 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423405 rs769761402 |
276 | W>R | No |
ClinGen ExAC |
|
|
rs1336404872 CA391324248 |
279 | S>* | No |
ClinGen TOPMed |
|
|
rs1462467722 CA391324251 |
279 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 280 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773944428 CA7423426 |
281 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391324186 rs1365343716 |
283 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 286 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 286 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA267634626 rs991549087 |
286 | I>V | No |
ClinGen Ensembl |
|
|
rs1282645632 CA391324046 |
288 | Q>L | No |
ClinGen gnomAD |
|
|
CA7423429 rs777088676 |
290 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA267634608 rs777088676 |
290 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 296 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391323846 rs1490795109 |
297 | R>I | No |
ClinGen TOPMed |
|
|
rs1205607200 CA391323816 |
298 | N>K | No |
ClinGen gnomAD |
|
|
CA7423433 rs765751651 |
299 | N>S | No |
ClinGen ExAC |
|
|
CA267634579 rs1028319147 |
300 | I>V | No |
ClinGen Ensembl |
|
|
rs1221181783 CA391323774 |
301 | I>L | No |
ClinGen gnomAD |
|
|
CA7423435 rs144406450 |
301 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1054432326 CA267634554 |
301 | I>T | No |
ClinGen TOPMed |
|
|
rs531262881 CA7423436 |
302 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751785682 CA7423437 |
303 | T>I | No |
ClinGen ExAC |
|
|
rs552199253 CA7423438 |
304 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA391323701 rs552199253 |
304 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 305 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391323670 rs1428919279 |
306 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 307 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172191445 CA391323660 |
307 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs376655112 CA7423440 |
307 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391323650 rs1366294032 |
307 | H>R | No |
ClinGen TOPMed |
|
|
rs1172191445 CA391323653 |
307 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1316233224 CA391323350 |
308 | S>G | No |
ClinGen gnomAD |
|
|
CA7423457 rs767865662 |
309 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 311 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 311 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391323314 rs750464984 |
311 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750464984 CA7423458 |
311 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756332360 CA7423459 |
312 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs766328606 CA7423460 |
313 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA391323292 rs1381000975 |
314 | L>V | No |
ClinGen gnomAD |
|
|
rs1205909877 CA391323281 |
315 | E>* | No |
ClinGen TOPMed |
|
|
rs753770750 CA7423461 |
318 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA391323236 rs1316378927 |
319 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA391323234 rs1316378927 |
319 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs868159959 CA267633945 |
322 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 322 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362144651 CA391323208 |
322 | Q>R | No |
ClinGen gnomAD |
|
|
rs754768495 CA7423462 |
323 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391323193 rs1282932008 |
324 | V>M | No |
ClinGen gnomAD |
|
|
rs975207994 CA267633896 |
325 | F>I | No |
ClinGen Ensembl |
|
|
rs369588518 CA7423464 |
326 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA391323170 rs757984655 |
326 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs757984655 CA7423465 |
326 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA391323115 rs1244904118 |
331 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA267633805 rs912567316 |
335 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs372749974 CA7423470 |
335 | M>V | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 336 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171125748 CA391323038 |
338 | S>N | No |
ClinGen TOPMed |
|
|
rs749719540 CA7423471 |
339 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 340 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391323010 rs1449884016 |
341 | S>N | No |
ClinGen TOPMed |
|
|
CA7423472 rs377198414 |
341 | S>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs774800013 CA7423473 |
343 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs767851236 CA7423475 |
344 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1452384696 CA391322975 |
344 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA391322969 rs1337727696 |
345 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 345 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423476 rs773631120 |
350 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1440625407 CA391322912 |
350 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA391322833 rs1224924848 |
354 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA391322830 rs1224924848 |
354 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs531102064 CA7423478 |
354 | T>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs1204141103 CA391322746 |
358 | F>L | No |
ClinGen gnomAD |
|
|
rs1322316143 CA391322753 |
358 | F>S | No |
ClinGen gnomAD |
|
|
rs368909467 CA7423481 |
361 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7423482 rs368909467 |
361 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA267633721 rs373006979 |
362 | Q>* | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 364 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423483 rs752419016 |
365 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA391322621 rs1180964697 |
365 | M>V | No |
ClinGen gnomAD |
|
|
rs758256369 CA7423484 |
367 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777388921 CA7423485 |
367 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1243914414 CA391322539 |
368 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 371 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 372 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469477448 CA391322369 |
373 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 375 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 375 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423487 rs756967147 |
378 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391322233 rs756967147 |
378 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745396804 CA7423490 |
380 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7423489 rs745396804 |
380 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391322178 TCGA novel rs745396804 |
380 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA ExAC TOPMed gnomAD |
|
rs887239637 CA267633660 |
381 | E>D | No |
ClinGen TOPMed |
|
|
rs1474989637 CA391322171 |
381 | E>Q | No |
ClinGen TOPMed |
|
|
CA7423492 rs779634237 |
385 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7423493 rs748514697 |
386 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1280807275 CA391321871 |
389 | N>S | No |
ClinGen gnomAD |
|
|
rs1373977174 CA391321074 |
391 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1476697809 CA391321059 |
391 | T>N | No |
ClinGen gnomAD |
|
|
rs200590158 CA7423510 |
392 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs901740042 CA267632138 |
392 | T>S | No |
ClinGen TOPMed |
|
|
rs748709078 CA7423512 |
394 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA391320957 rs772740830 |
396 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs943198954 CA267632118 |
396 | A>S | No |
ClinGen Ensembl |
|
|
rs772740830 CA7423513 |
396 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA391320892 rs1310432887 |
399 | V>A | No |
ClinGen TOPMed |
|
|
CA7423515 rs747409916 |
404 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7423516 rs376134978 |
405 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391320793 rs759519001 |
405 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA7423518 rs759519001 |
405 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA391320739 rs1459872173 |
407 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1359991020 CA391320718 |
408 | Q>P | No |
ClinGen gnomAD |
|
|
rs775375377 CA7423520 |
409 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867288502 CA267632066 |
410 | K>Q | No |
ClinGen Ensembl |
|
|
rs1223884164 CA391320692 |
410 | K>R | No |
ClinGen TOPMed |
|
|
rs762829869 CA7423521 |
413 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1022474408 CA267632061 |
413 | H>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 414 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391320635 rs1162114085 |
414 | K>R | No |
ClinGen gnomAD |
|
|
CA391320613 rs1262648650 |
415 | V>G | No |
ClinGen gnomAD |
|
|
rs1390758099 CA391320616 |
415 | V>L | No |
ClinGen gnomAD |
|
|
CA391320589 rs1243075168 |
417 | S>G | No |
ClinGen gnomAD |
|
|
CA7423524 rs761735658 |
417 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 418 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567143407 CA391320550 |
419 | G>* | No |
ClinGen Ensembl |
|
| TCGA novel | 423 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423526 rs750142267 |
425 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs904100752 CA267632032 |
426 | D>G | No |
ClinGen TOPMed |
|
|
rs142189359 CA7423527 |
428 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7423528 rs142189359 |
428 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753418263 CA7423529 |
428 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs202052408 CA7423530 |
429 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs202052408 CA267632004 |
429 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7423532 rs747327037 |
431 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747327037 CA267631996 |
431 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 432 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754864981 CA267631967 |
432 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs751387795 CA7423533 |
432 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7423535 rs746142240 |
433 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA391320302 rs746142240 |
433 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7423536 rs770033949 |
434 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462193116 CA391320257 |
438 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 439 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391320184 rs1184076256 |
444 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 445 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA267631950 rs144094013 |
445 | L>V | No |
ClinGen 1000Genomes |
|
| TCGA novel | 447 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391320145 rs1418018432 |
447 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1418018432 CA391320146 |
447 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA391320126 rs1266561092 |
448 | D>E | No |
ClinGen gnomAD |
|
|
rs1446320110 CA391320120 |
449 | N>D | No |
ClinGen TOPMed |
|
|
CA7423539 rs749374861 |
449 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA391320087 rs1467892811 |
450 | V>A | No |
ClinGen gnomAD |
|
|
CA7423540 rs768578625 |
450 | V>F | No |
ClinGen ExAC TOPMed |
|
|
CA391320097 rs768578625 |
450 | V>I | No |
ClinGen ExAC TOPMed |
|
|
CA7423542 rs761494566 |
452 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA391320021 rs1296405651 |
454 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 455 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 456 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 457 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423544 rs767387373 |
457 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs267604131 CA267628809 |
459 | S>F | No |
ClinGen gnomAD |
|
|
CA391319097 rs1350750634 |
462 | F>S | No |
ClinGen gnomAD |
|
|
CA7423574 rs552958325 |
463 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774415086 CA267628777 |
464 | L>V | No |
ClinGen Ensembl |
|
|
CA267628775 rs146351379 |
465 | W>* | No |
ClinGen ESP |
|
|
CA7423575 rs767915486 |
466 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 467 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756531735 CA7423577 |
468 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7423582 rs748193647 |
470 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7423581 rs779005449 |
470 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241115120 CA391318940 |
472 | Y>C | No |
ClinGen gnomAD |
|
|
rs777634280 CA7423584 |
475 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs139868545 CA7423585 |
475 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770896534 CA391318849 |
477 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs770896534 CA7423586 |
477 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs199735590 CA7423588 |
478 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA391318756 rs775005857 |
481 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775005857 CA7423590 |
481 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391318695 rs1322967759 |
483 | G>E | No |
ClinGen gnomAD |
|
|
rs1458103118 CA391318704 |
483 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA391318619 rs1328118604 |
486 | W>* | No |
ClinGen TOPMed |
|
|
CA391318560 rs1284318205 |
487 | D>A | No |
ClinGen gnomAD |
|
|
CA391318571 rs1284318205 |
487 | D>G | No |
ClinGen gnomAD |
|
|
rs750978091 CA7423593 |
488 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs760999196 CA7423594 |
489 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7423596 rs754227064 |
493 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA267628607 rs932427307 |
494 | I>M | No |
ClinGen gnomAD |
|
|
rs921011513 CA267628602 |
496 | R>T | No |
ClinGen Ensembl |
|
|
CA391317954 rs1367836762 |
497 | N>K | No |
ClinGen TOPMed |
|
|
CA391317959 rs1273770220 |
497 | N>S | No |
ClinGen TOPMed |
|
|
CA267627751 rs1019999641 |
499 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 501 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA267627739 rs977679563 |
505 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs552236240 CA7423611 |
508 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 508 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761125639 CA7423612 |
510 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1344404194 CA391317777 |
513 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs759880547 CA7423615 |
517 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA391317678 rs1213891847 |
521 | T>I | No |
ClinGen gnomAD |
|
|
CA7423616 rs765480168 |
522 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765480168 CA267627660 |
522 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564148291 CA7423618 |
525 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs564148291 CA391317648 |
525 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 526 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1247417968 CA391317629 |
527 | M>I | No |
ClinGen TOPMed |
|
|
CA267627657 rs1055450571 |
527 | M>V | No |
ClinGen Ensembl |
|
|
CA7423620 rs149876873 |
530 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7423622 rs776491474 |
531 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 531 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781279214 CA7423623 |
532 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7423624 rs745662165 |
533 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA267627597 rs61738870 |
536 | G>S | No |
ClinGen Ensembl |
|
|
rs779727395 CA7423626 |
538 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391317543 rs1161128770 |
540 | G>V | No |
ClinGen gnomAD |
|
|
CA391317535 rs1364640382 |
541 | P>L | No |
ClinGen gnomAD |
|
|
CA267627595 rs940829310 |
543 | S>I | No |
ClinGen Ensembl |
|
|
rs940829310 CA391317525 |
543 | S>N | No |
ClinGen Ensembl |
|
|
CA7423627 rs375678883 |
544 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 544 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325330452 CA391317508 |
545 | Q>H | No |
ClinGen gnomAD |
|
|
CA391317488 rs1349989747 |
548 | M>R | No |
ClinGen TOPMed |
|
|
rs1349989747 CA391317489 |
548 | M>T | No |
ClinGen TOPMed |
|
|
rs1324502431 CA391317492 |
548 | M>V | No |
ClinGen gnomAD |
|
|
rs1429703607 CA391317484 |
549 | V>M | No |
ClinGen gnomAD |
|
|
CA391317467 rs1406326515 |
551 | F>C | No |
ClinGen TOPMed |
|
|
rs773796245 CA7423629 |
553 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777058488 CA7423632 |
557 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA391317425 rs1210625875 |
558 | Q>* | No |
ClinGen gnomAD |
|
|
rs749933236 CA7423633 |
558 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs775952603 CA7423635 |
559 | I>N | No |
ClinGen ExAC |
|
|
rs1349562329 CA391317408 |
560 | I>M | No |
ClinGen TOPMed |
|
|
rs1192840145 CA391317401 |
561 | M>I | No |
ClinGen gnomAD |
|
|
rs1249264325 CA391317396 |
562 | A>S | No |
ClinGen gnomAD |
|
|
CA7423637 rs764423949 |
562 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA391317368 rs1181274880 |
565 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1181274880 CA391317370 |
565 | S>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 566 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 572 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391317281 rs1367338573 |
574 | C>* | No |
ClinGen gnomAD |
|
|
rs373331655 CA7423643 |
574 | C>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756109913 CA7423642 |
574 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA7423644 rs753683572 |
575 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391317275 rs778607686 |
576 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778607686 CA7423646 |
576 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 577 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 582 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771616499 CA7423648 |
583 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1361697228 CA391317187 |
584 | A>G | No |
ClinGen TOPMed |
|
|
CA7423671 rs370737876 |
590 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7423672 rs202150544 |
591 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1209550534 CA391315963 |
592 | L>S | No |
ClinGen TOPMed |
|
|
rs1452089977 CA391315938 |
594 | T>A | No |
ClinGen gnomAD |
|
|
rs1159029131 CA391315925 |
595 | L>H | No |
ClinGen gnomAD |
|
|
rs777097006 CA7423673 |
595 | L>V | No |
ClinGen ExAC TOPMed |
|
|
rs375284734 CA267621639 |
596 | F>S | No |
ClinGen ESP TOPMed |
|
|
rs752165571 CA267621638 |
598 | E>A | No |
ClinGen Ensembl |
|
|
CA7423676 rs770131288 |
599 | S>F | No |
ClinGen ExAC |
|
| TCGA novel | 601 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467502804 CA391315809 |
603 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1055629382 CA267621631 |
603 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs145962755 CA7423677 |
605 | R>* | Variant assessed as Somatic; 0.0007853 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7423678 rs367571360 |
605 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769183457 CA7423679 |
607 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA391315685 rs1403555443 |
609 | D>H | No |
ClinGen gnomAD |
|
|
rs1313346847 CA391315643 |
611 | T>P | No |
ClinGen gnomAD |
|
|
CA391315596 rs1236031286 |
613 | Q>R | No |
ClinGen gnomAD |
|
|
CA391315579 rs1340870344 |
614 | V>G | No |
ClinGen gnomAD |
|
|
rs762080027 CA7423681 |
614 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs764403157 CA267621514 |
615 | L>V | No |
ClinGen Ensembl |
|
|
rs147816617 CA7423683 |
618 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7423684 rs200951085 |
619 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7423685 rs202095385 |
620 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391315454 rs1190457483 |
620 | A>T | No |
ClinGen gnomAD |
|
|
CA391315442 rs202095385 |
620 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759292383 CA7423687 |
622 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7423688 rs200804652 |
623 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1043100513 CA267621485 |
624 | N>D | No |
ClinGen TOPMed |
|
|
rs1372699088 CA391315339 |
624 | N>K | No |
ClinGen gnomAD |
|
|
rs752508968 CA7423689 |
624 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7423690 rs757986700 |
626 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA7423691 rs763805147 CA391315249 |
628 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751027394 CA7423692 |
629 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1314083101 CA391315227 |
630 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 632 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 633 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs903156404 CA267621457 |
633 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1294076933 CA391315113 |
634 | S>R | No |
ClinGen gnomAD |
|
|
rs756849007 CA7423693 |
635 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 635 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 636 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423695 rs749773975 |
637 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7423698 rs748531120 |
640 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs779365389 CA7423697 |
640 | D>N | No |
ClinGen ExAC |
|
|
rs1489349963 CA391314972 |
641 | V>D | No |
ClinGen gnomAD |
|
|
rs772183280 CA7423699 |
641 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391314945 rs1247412566 |
642 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA391314954 rs1184493504 |
642 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 643 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 643 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423700 rs773544431 |
643 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs755646582 CA267621426 |
646 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 651 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391314594 rs1458053423 CA391314596 |
652 | R>S | No |
ClinGen gnomAD |
|
|
CA391314575 rs755466275 CA7423714 |
653 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1445353102 CA391314545 |
656 | E>K | No |
ClinGen TOPMed |
|
|
rs1383914317 CA391314447 |
661 | H>D | No |
ClinGen TOPMed |
|
|
CA267620523 VAR_049252 rs35612840 |
662 | E>D | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA391314439 rs1295994236 |
662 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 663 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758841789 CA7423717 |
666 | G>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000973965 CA7423719 rs148108126 |
667 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA391314364 rs1275199195 |
668 | D>E | No |
ClinGen TOPMed |
|
|
rs1555436702 CA391314368 |
668 | D>V | No |
ClinGen Ensembl |
|
|
CA391314341 rs1287274687 |
670 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA391314344 rs1287274687 |
670 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7423722 rs776636432 |
674 | S>P | No |
ClinGen ExAC |
|
|
CA7423724 rs769719836 |
675 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs762634634 CA7423727 |
678 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA391313689 rs1484255186 |
680 | C>* | No |
ClinGen gnomAD |
|
|
rs1180323270 CA391313679 |
681 | Q>R | No |
ClinGen gnomAD |
|
|
CA7423728 rs763910057 |
683 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 685 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423729 rs774037218 |
686 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs767280519 CA7423731 |
689 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391313586 rs1423749991 |
689 | S>P | No |
ClinGen gnomAD |
|
|
rs1458475234 CA391313559 |
691 | L>P | No |
ClinGen gnomAD |
|
|
rs749945723 CA7423732 |
692 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA391313529 rs1350654682 |
694 | H>P | No |
ClinGen gnomAD |
|
|
rs939503861 CA267616553 |
694 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7423733 rs760315562 |
695 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344271382 CA391313494 |
697 | K>Q | No |
ClinGen gnomAD |
|
|
CA267616524 rs946784230 |
700 | L>I | No |
ClinGen TOPMed |
|
|
CA391313440 rs1219774326 |
701 | D>G | No |
ClinGen gnomAD |
|
|
rs1295466856 CA391313416 |
704 | G>A | No |
ClinGen gnomAD |
|
|
CA391313411 rs1406401491 |
705 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 706 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391313402 rs1471132976 |
706 | L>P | No |
ClinGen TOPMed |
|
|
rs765813230 CA7423734 |
708 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs752242764 CA7423735 |
708 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567117417 CA391313368 |
711 | K>N | No |
ClinGen Ensembl |
|
|
rs778153109 CA7423737 |
711 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA391313347 rs1427797973 |
713 | D>E | No |
ClinGen gnomAD |
|
| rs1432092958 | 713 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 713 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA267616486 rs372469011 |
713 | D>Y | No |
ClinGen ESP gnomAD |
|
|
rs1272441031 CA391313345 |
714 | Y>N | No |
ClinGen TOPMed |
|
|
CA391313321 rs1567117304 |
715 | R>K | No |
ClinGen Ensembl |
|
|
rs764516699 CA7423757 |
715 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 716 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs919133723 CA267615454 |
721 | Q>E | No |
ClinGen Ensembl |
|
|
CA7423758 rs751950870 |
721 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs757678167 CA7423759 |
722 | A>P | No |
ClinGen ExAC TOPMed |
|
|
rs757678167 CA267615432 |
722 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs781371535 CA7423760 |
722 | A>V | No |
ClinGen ExAC |
|
| TCGA novel | 724 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391313147 rs1434236008 |
725 | N>T | No |
ClinGen gnomAD |
|
| TCGA novel | 727 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 728 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750684165 CA7423762 |
728 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1229626403 CA391313078 |
729 | M>T | No |
ClinGen gnomAD |
|
|
rs749331880 CA7423764 |
731 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 734 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391312986 rs1275404429 |
735 | M>I | No |
ClinGen gnomAD |
|
|
rs944514590 CA267615369 |
735 | M>T | No |
ClinGen Ensembl |
|
|
CA267615370 rs139022772 |
735 | M>V | No |
ClinGen ESP TOPMed |
|
|
CA7423766 rs768632467 |
738 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1208675159 CA391312920 |
739 | Y>C | No |
ClinGen gnomAD |
|
|
rs772028976 CA7423769 |
740 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs375057442 CA7423772 |
744 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs577732850 CA7423773 |
745 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776142632 CA7423774 |
746 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179292835 CA391312818 |
746 | I>V | No |
ClinGen TOPMed |
|
|
CA7423775 rs759037728 |
747 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 747 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423776 rs764651082 |
748 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391312733 rs1164263444 |
751 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 751 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142203053 CA391312708 |
752 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142203053 CA7423777 |
752 | W>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 753 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 753 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423778 rs762134195 |
754 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA391312673 rs762134195 |
754 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7423779 rs767821264 |
755 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 758 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs181614580 CA391312607 CA7423780 |
759 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA391312609 rs1334884710 |
759 | N>S | No |
ClinGen TOPMed |
|
|
CA7423781 rs756260279 |
760 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs553762965 CA391312580 |
761 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA391312533 rs1269399730 |
765 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 765 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423783 rs753938135 |
769 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755058797 CA7423784 |
769 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs370065581 CA7423785 |
770 | Y>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA391312455 rs1291853416 |
773 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 773 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423787 rs146368727 |
776 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138440581 CA7423788 |
776 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765163172 CA267612844 |
778 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA391311843 rs757249943 |
779 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780801146 CA7423829 |
779 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7423828 rs757249943 |
779 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 780 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA267612799 rs965663497 |
783 | N>S | No |
ClinGen TOPMed |
|
|
rs1329763696 CA391311771 |
784 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1329763696 CA391311770 |
784 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs750236361 CA7423830 |
787 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755716963 CA7423832 |
790 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391311677 rs1181520664 |
791 | L>V | No |
ClinGen gnomAD |
|
|
rs370829274 CA7423834 |
792 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA267612746 rs540487781 |
793 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 793 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423835 rs768191916 |
795 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1567109487 CA391311634 |
795 | I>T | No |
ClinGen Ensembl |
|
|
CA391311589 rs1161859042 |
798 | G>V | No |
ClinGen gnomAD |
|
|
CA391311533 rs1386101898 |
803 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 803 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595833350 CA391311433 |
807 | W>* | No |
ClinGen Ensembl |
|
|
rs753445690 CA7423852 |
809 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391311388 rs1306982865 |
811 | I>V | No |
ClinGen gnomAD |
|
|
rs1297807650 CA391311362 |
813 | I>V | No |
ClinGen gnomAD |
|
|
rs778333589 CA7423854 |
815 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7423853 rs536316130 |
815 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 818 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1366801551 CA391311267 |
818 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 820 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 820 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423856 rs771343069 |
820 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA391311207 rs1343916746 |
821 | Y>* | No |
ClinGen gnomAD |
|
| TCGA novel | 823 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA267612594 rs895869914 |
823 | Q>E | No |
ClinGen Ensembl |
|
|
CA391311160 rs1304213707 |
823 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1055734059 CA267612587 |
830 | Q>E | No |
ClinGen gnomAD |
|
|
rs1438754012 CA391311028 |
831 | I>R | No |
ClinGen gnomAD |
|
|
CA391310998 rs1245543809 |
833 | W>L | No |
ClinGen gnomAD |
|
|
CA391310992 rs1477977928 |
834 | A>T | No |
ClinGen gnomAD |
|
|
rs770324327 CA7423859 |
836 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391310949 rs770324327 |
836 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391310917 rs1313282564 |
838 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 843 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391310833 rs1167588680 |
843 | F>S | No |
ClinGen gnomAD |
|
|
CA7423860 rs776031153 |
844 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 844 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1169078936 CA391310115 |
847 | V>I | No |
ClinGen TOPMed |
|
|
CA391310105 rs1282596550 |
848 | S>G | No |
ClinGen gnomAD |
|
|
CA7423881 rs748144410 |
850 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 851 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149608612 CA267612007 |
852 | K>* | No |
ClinGen ESP TOPMed |
|
|
rs772147315 CA7423882 |
852 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA391310043 rs1204078726 |
853 | P>L | No |
ClinGen gnomAD |
|
|
rs1376944857 CA391310052 |
853 | P>T | No |
ClinGen TOPMed |
|
|
CA7423883 rs773185385 |
854 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760543502 CA7423884 |
854 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 855 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 855 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391310015 rs1327525543 |
857 | E>K | No |
ClinGen TOPMed |
|
|
rs1433682401 CA391309995 |
858 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 860 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759388507 CA7423888 |
861 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144518620 CA7423887 |
861 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 862 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423889 rs148426483 |
862 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA391309958 rs1166814247 |
862 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 865 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs978415738 CA267611940 |
866 | V>A | No |
ClinGen Ensembl |
|
|
CA7423891 rs199994530 |
866 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA267611941 rs199994530 |
866 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 867 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 868 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391309862 rs1332443910 |
870 | G>E | No |
ClinGen gnomAD |
|
|
CA7423893 rs142514694 |
870 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA267611929 rs577165591 |
873 | K>T | No |
ClinGen gnomAD |
|
|
CA391309811 rs1415835154 |
874 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 875 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756624316 CA7423894 |
876 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA391309774 rs1238985878 |
878 | Q>E | No |
ClinGen gnomAD |
|
|
CA7423896 rs769881856 |
879 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs147127931 CA7423897 |
880 | I>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1198223386 CA391309737 |
881 | H>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs779175003 CA7423898 |
882 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202246817 CA7423899 |
882 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249392482 CA391309704 |
883 | M>V | No |
ClinGen gnomAD |
|
|
CA7423901 rs777839281 |
884 | F>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 890 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391309537 rs1375111287 |
892 | H>N | No |
ClinGen gnomAD |
|
| TCGA novel | 894 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423904 rs147846294 |
894 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1384370467 CA391309466 |
896 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 899 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1016186267 CA267611850 |
901 | I>L | No |
ClinGen TOPMed |
|
|
CA267611849 rs1016186267 |
901 | I>V | No |
ClinGen TOPMed |
|
|
CA391309372 rs1391112287 |
902 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 903 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 905 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 907 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 909 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391309082 rs1382457597 |
912 | E>K | No |
ClinGen gnomAD |
|
|
CA7423932 rs199679969 |
915 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391309009 rs1322414111 |
917 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 918 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371430453 CA391308946 |
920 | A>V | No |
ClinGen TOPMed |
|
|
CA391308934 rs374084062 |
921 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374084062 CA7423934 |
921 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA391308912 rs1336821682 |
922 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 924 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 928 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391308778 rs1485559168 |
930 | H>D | No |
ClinGen gnomAD |
|
|
CA391308770 rs1187346455 |
930 | H>P | No |
ClinGen gnomAD |
|
| TCGA novel | 930 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200928789 CA7423937 |
931 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391308762 rs1407116500 |
931 | Y>N | No |
ClinGen gnomAD |
|
|
rs200928789 CA7423938 |
931 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391308734 rs1474470455 |
932 | R>K | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA391308721 rs1419271181 |
933 | Y>D | No |
ClinGen gnomAD |
|
|
CA391308687 rs1157492062 |
935 | S>P | No |
ClinGen gnomAD |
|
|
rs751744028 CA7423941 |
936 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7423942 rs757493727 |
939 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs759151472 CA7423943 |
940 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA267610731 rs910553171 |
941 | C>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 941 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391308587 rs1378262711 |
941 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 944 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 945 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391308302 rs775903963 |
947 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7423956 rs775903963 |
947 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 950 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 953 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1202849947 CA391308249 |
954 | I>T | No |
ClinGen gnomAD |
|
|
CA391308253 rs1303001350 |
954 | I>V | No |
ClinGen Ensembl |
|
|
rs764396889 CA7423958 |
955 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 958 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423960 rs757403967 |
959 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 959 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 961 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 961 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391308158 rs1396507767 |
967 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs750505118 CA7423964 |
967 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396507767 CA391308156 |
967 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA391308147 rs1408059024 |
968 | W>C | No |
ClinGen gnomAD |
|
|
CA7423965 rs756187844 |
970 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 972 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423966 RCV000889837 rs149154554 |
974 | T>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs749130831 CA7423967 |
974 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs905395504 CA267609615 |
976 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA7423968 rs374265973 |
976 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7423992 rs770634413 |
978 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 979 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7423994 rs745451705 |
980 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs750302914 CA7423993 |
980 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 981 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA267607093 rs371486834 |
981 | E>G | No |
ClinGen ESP TOPMed |
|
|
CA7423996 rs774888805 |
983 | M>I | No |
ClinGen ExAC |
|
|
rs769140816 CA7423995 |
983 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs762338302 CA7423997 |
984 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7423999 rs773640040 |
985 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs772372724 CA7423998 |
985 | S>P | No |
ClinGen ExAC |
|
|
CA7424000 rs376855426 |
987 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA267607042 rs79724712 |
987 | F>L | No |
ClinGen Ensembl |
|
|
CA391308011 rs1166946484 |
988 | K>* | No |
ClinGen gnomAD |
|
|
rs1392982261 CA391308006 |
988 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 989 | N>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391307991 rs1398959381 |
990 | C>* | No |
ClinGen gnomAD |
|
|
CA7424002 rs201453400 |
991 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 992 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 994 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs936605832 CA267607033 |
997 | I>M | No |
ClinGen Ensembl |
|
|
CA391307919 rs1402302819 |
997 | I>V | No |
ClinGen gnomAD |
|
|
CA7424003 rs200342022 |
998 | L>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA267607030 rs200095071 |
999 | N>S | No |
ClinGen Ensembl |
|
|
CA391307862 rs1286413446 |
1002 | V>I | No |
ClinGen gnomAD |
|
|
rs1015068599 CA267607010 |
1003 | C>Y | No |
ClinGen TOPMed |
|
|
rs907352347 CA267606995 |
1005 | G>R | No |
ClinGen TOPMed |
|
|
CA391307817 rs1204020002 |
1006 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1008 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567093903 CA391307518 |
1012 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 1012 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs999556250 CA267606247 |
1013 | L>P | No |
ClinGen TOPMed |
|
|
rs1394733092 CA391307516 |
1013 | L>V | No |
ClinGen gnomAD |
|
|
CA7424033 rs779472082 |
1014 | A>V | No |
ClinGen ExAC |
|
|
rs1595810516 CA391307444 |
1020 | G>A | No |
ClinGen Ensembl |
|
|
rs1378473489 CA391307447 |
1020 | G>R | No |
ClinGen gnomAD |
|
|
CA391307442 rs1192178458 |
1021 | M>V | No |
ClinGen TOPMed |
|
|
rs1030924037 CA267606199 |
1022 | E>K | No |
ClinGen TOPMed |
|
|
rs374017281 CA7424034 |
1024 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1302313872 CA391307405 |
1025 | S>Y | No |
ClinGen gnomAD |
No associated diseases with Q96RT8
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| equatorial microtubule organizing center | A microtubule organizing center formed by a band of gamma-tubulin that is recruited to a circumferential band of F-actin at the midpoint of a cell and which nucleates microtubules from the cell division site at the end of mitosis. |
| gamma-tubulin complex | A multiprotein complex composed of gamma-tubulin and other non-tubulin proteins. Gamma-tubulin complexes are localized to microtubule organizing centers, and play an important role in the nucleation of microtubules. The number and complexity of non-tubulin proteins associated with these complexes varies between species. |
| gamma-tubulin large complex | A complex of gamma tubulin and associated proteins thought to be formed by multimerization of gamma-tubulin small complexes. An example of this structure is found in Schizosaccharomyces pombe. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| spindle pole | Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| gamma-tubulin binding | Binding to the microtubule constituent protein gamma-tubulin. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cytoplasmic microtubule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures formed of microtubules and associated proteins in the cytoplasm of a cell. |
| meiotic cell cycle | Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions. |
| microtubule nucleation | The process in which tubulin alpha-beta heterodimers begin aggregation to form an oligomeric tubulin structure (a microtubule seed). Microtubule nucleation is the initiating step in the formation of a microtubule in the absence of any existing microtubules ('de novo' microtubule formation). |
| mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
| spindle assembly | The aggregation, arrangement and bonding together of a set of components to form the spindle, the array of microtubules and associated molecules that serves to move duplicated chromosomes apart. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8BKN5 | Tubgcp5 | Gamma-tubulin complex component 5 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MARHGPPWSR | LDAQQERDVR | ELVRGVAGLQ | DEADPNFQLA | LNFAWSNFRF | HRFLDVNSHK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IEKTIEGIYE | KFVIHSDLSK | AASWKRLTEE | FLNAPLPSIK | EIKTDAHYSI | LSLLLCLSDS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PSNSSYVETP | RNKEVEKKDD | FDWGKYLMED | EEMDIGPYMD | TPNWSEESEE | ENDQQPLSRE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DSGIQVDRTP | LEEQDQNRKL | DPCISWKDEP | DDRSWLEHHV | VHQYWTARPS | QFPHSLHLHS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NLAAVWDQHL | YSSDPLYVPD | DRVLVTETQV | IRETLWLLSG | VKKLFIFQLI | DGKVTVRNNI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IVTHLTHSCL | RSVLEQIAAY | GQVVFRLQEF | IDEVMGHSSE | SMLPGSGSVP | KKSTEAPFRT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YQAFMWALYK | YFISFKEELA | EIEKCIINND | TTITLAIVVD | KLAPRLSQLK | VLHKVFSTGV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AEVPPDTRNV | VRASHLLNTL | YKAILEYDNV | GEASEQTVSL | LFSLWVETVR | PYLQTVDEWI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VHGHLWDGAR | EFIIQRNKNV | PVNHRDFWYA | TYTLYSVSEK | TENEEKMSDN | ASASSGSDQG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PSSRQHTMVS | FLKPVLKQII | MAGKSMQLLK | NLQCAESTTC | QAGARDAERK | SLYTLFLESV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QSRLRHGEDS | TPQVLTEQQA | TKENLMKMQS | IAESHLELDD | VHDPLLAINF | ARMYLEQSDF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| HEKFAGGDVC | VDRSSESVTC | QTFELTLRSC | LYPHIDKQYL | DCCGNLMQTL | KKDYRLVEYL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QAMRNFFLME | GGDTMYDFYT | SIFDKIREKE | TWQNVSFLNV | QLQEAVGQRY | PEDSSRLSIS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| FENVDTAKKK | LPVHILDGLT | LSYKVPWPVD | IVISLECQKI | YNQVFLLLLQ | IKWAKYSLDV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LLFGELVSTA | EKPRLKEGLI | HEQDTVAQFG | PQKEPVRQQI | HRMFLLRVKL | MHFVNSLHNY |
| 910 | 920 | 930 | 940 | 950 | 960 |
| IMTRILHSTG | LEFQHQVEEA | KDLDQLIKIH | YRYLSTIHDR | CLLREKVSFV | KEAIMKVLNL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| ALMFADGWQA | GLGTWRMESI | EKMESDFKNC | HMFLVTILNK | AVCRGSFPHL | ESLALSLMAG |
| MEQS |