Q96GE4
PR
Gene name |
CEP95 (CCDC45, CEP45) |
Protein name |
Centrosomal protein of 95 kDa |
Names |
Cep95, Coiled-coil domain-containing protein 45 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:90799 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q96GE4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96GE4-F1 | Predicted | AlphaFoldDB |
721 variants for Q96GE4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA400646894 rs1555673172 |
2 | A>T | No |
ClinGen gnomAD |
|
|
CA400646898 rs1555673173 |
2 | A>V | No |
ClinGen gnomAD |
|
|
CA400646911 rs1184816135 |
4 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1184816135 CA400646909 |
4 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1387610495 CA400646906 |
4 | S>T | No |
ClinGen TOPMed |
|
|
CA400646910 rs1184816135 |
4 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA293028942 rs781935947 |
5 | D>H | No |
ClinGen Ensembl |
|
|
CA400646923 rs1188669768 |
6 | A>G | No |
ClinGen TOPMed |
|
|
CA400646954 rs1555673699 |
9 | V>I | No |
ClinGen gnomAD |
|
|
rs376490545 CA8713881 |
10 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400646963 rs376490545 |
10 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369515401 CA8713883 |
11 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400646970 rs1555673707 |
12 | A>T | No |
ClinGen gnomAD |
|
|
CA293029866 rs998995320 |
12 | A>V | No |
ClinGen Ensembl |
|
|
COSM561911 rs750184995 CA293029876 COSM561910 |
13 | N>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1555673711 CA400646986 |
14 | N>S | No |
ClinGen gnomAD |
|
|
rs782310627 CA8713885 |
15 | L>F | No |
ClinGen ExAC |
|
|
rs373250422 CA8713886 |
15 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400646996 rs1340347319 |
16 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1340347319 CA400646995 |
16 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782821073 CA8713889 |
17 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs782821073 CA8713888 |
17 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs782136617 CA8713890 |
19 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs200913762 CA8713891 |
20 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1255446253 CA400647022 |
20 | H>Y | No |
ClinGen TOPMed |
|
|
rs782464005 CA8713893 |
21 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8713892 rs576870712 |
21 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446508769 CA400647046 |
23 | L>P | No |
ClinGen TOPMed |
|
|
rs755945888 CA293029909 |
23 | L>V | No |
ClinGen gnomAD |
|
|
rs782784729 CA8713894 |
24 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA8713895 rs781903572 |
25 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782488572 CA8713896 |
26 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400647077 rs1333810192 |
26 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA400647088 rs1555673731 |
27 | E>K | No |
ClinGen gnomAD |
|
|
rs782645291 CA8713897 |
28 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA400647106 rs1396806578 |
28 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs782482844 CA8713899 |
29 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782572983 CA8713900 |
30 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1174111314 CA400647140 |
31 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA400647176 rs1439021215 |
33 | A>G | No |
ClinGen TOPMed |
|
|
CA8713901 rs782196972 |
34 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs549631790 CA8713903 |
35 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400647217 rs782243536 |
36 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8713906 rs782810955 |
39 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1555673771 CA400647263 |
40 | Y>C | No |
ClinGen gnomAD |
|
|
CA8713907 rs782105906 |
40 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1555673772 CA400647276 |
41 | Q>* | No |
ClinGen gnomAD |
|
|
CA400647282 rs1198786131 |
41 | Q>P | No |
ClinGen TOPMed |
|
| TCGA novel | 41 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484318015 CA400647297 |
42 | S>F | No |
ClinGen TOPMed |
|
|
CA8713908 rs782711597 |
43 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1239987623 CA400647322 |
44 | L>F | No |
ClinGen TOPMed |
|
|
rs1555673794 CA400647327 |
45 | G>R | No |
ClinGen gnomAD |
|
|
rs1555673804 CA400647340 |
46 | E>* | No |
ClinGen gnomAD |
|
|
TCGA novel CA400647361 rs782777182 |
47 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs781861427 CA8713912 |
48 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8713913 rs782475306 |
49 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 49 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400647390 rs1555673825 |
50 | D>N | No |
ClinGen gnomAD |
|
|
rs782241869 CA8713952 |
52 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8713951 rs370399816 |
52 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782817741 CA293030727 |
54 | I>L | No |
ClinGen TOPMed |
|
|
rs1478822981 CA400647512 |
54 | I>T | No |
ClinGen TOPMed |
|
|
rs782384777 CA400647520 |
55 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8713954 rs782609312 |
55 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8713953 rs782384777 |
55 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA400647529 rs1246750948 |
56 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA8713955 rs376107290 |
56 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782303462 CA8713956 |
60 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM982918 CA400647589 rs1555674473 COSM982917 |
60 | D>G | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA400647586 rs1555674473 |
60 | D>V | No |
ClinGen gnomAD |
|
|
rs1056420252 CA293030742 |
60 | D>Y | No |
ClinGen Ensembl |
|
|
CA400647600 rs1205790962 |
61 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1555674478 CA400647594 |
61 | D>N | No |
ClinGen gnomAD |
|
|
rs1205790962 CA400647602 |
61 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA400647617 rs1555674481 |
62 | A>V | No |
ClinGen gnomAD |
|
|
rs1555674483 CA400647633 |
64 | N>D | No |
ClinGen gnomAD |
|
|
rs1346812474 CA400647646 |
65 | V>I | No |
ClinGen TOPMed |
|
|
COSM1283968 rs782421504 CA8713959 COSM1283969 |
66 | Q>K | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs781985737 CA400647671 |
67 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA8713960 rs781985737 |
67 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1555674488 CA400647668 |
67 | A>T | No |
ClinGen gnomAD |
|
|
rs782135433 CA8713961 |
68 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221119615 CA400647692 |
70 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA400647696 rs1221119615 |
70 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA400647711 CA400647710 rs1279016477 |
71 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8713962 rs782738977 |
72 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1047427445 CA293030767 |
75 | D>E | No |
ClinGen gnomAD |
|
|
CA400647761 rs1555674506 |
75 | D>H | No |
ClinGen gnomAD |
|
|
rs1352411636 CA400647778 |
75 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs372790513 CA8713966 |
78 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200297929 CA8713967 |
78 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs372790513 CA8713965 |
78 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400647843 rs1373982003 |
79 | V>I | No |
ClinGen TOPMed |
|
|
rs531548175 CA400647866 |
80 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8713968 rs531548175 |
80 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8713969 rs548051044 |
81 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1555674523 CA400647917 |
83 | H>D | No |
ClinGen gnomAD |
|
|
rs1555674523 CA400647915 |
83 | H>Y | No |
ClinGen gnomAD |
|
|
rs1157478609 CA400647943 |
84 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8713970 rs782488066 |
84 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219019449 CA400648652 |
88 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA400648663 rs781790590 |
89 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8713988 rs781790590 |
89 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782792266 CA293035090 |
89 | I>V | No |
ClinGen Ensembl |
|
|
CA8713989 rs782453647 |
93 | D>H | No |
ClinGen ExAC TOPMed |
|
|
rs368585776 CA8713990 |
93 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 95 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM982920 CA293035106 rs781801781 COSM982919 |
96 | S>Y | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA400648796 rs1555675853 |
97 | I>V | No |
ClinGen gnomAD |
|
|
CA400648851 rs1295988426 |
99 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1555675863 CA400648860 |
100 | L>F | No |
ClinGen gnomAD |
|
|
CA400648882 rs1555675867 |
101 | L>P | No |
ClinGen gnomAD |
|
|
rs1555675868 CA400648934 |
104 | F>S | No |
ClinGen gnomAD |
|
|
CA400648954 rs1555675871 |
105 | D>G | No |
ClinGen gnomAD |
|
|
rs1568127539 CA400648972 |
106 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1555675878 CA400649013 |
108 | L>S | No |
ClinGen gnomAD |
|
|
CA8713993 rs781905971 |
109 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA400649054 rs1555675881 |
110 | Y>C | No |
ClinGen gnomAD |
|
|
rs1162203909 CA400649081 |
112 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs557913316 CA400649103 |
114 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs557913316 CA293035122 |
114 | R>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs782643366 CA8713995 |
114 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA400649141 rs1555675893 |
116 | S>I | No |
ClinGen gnomAD |
|
|
CA400649219 rs1260703116 |
120 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs376967499 CA293035130 |
120 | H>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA400649948 rs1555676356 |
123 | S>N | No |
ClinGen gnomAD |
|
|
CA400649957 rs1555676358 |
124 | E>G | No |
ClinGen gnomAD |
|
|
CA8714025 rs782306825 |
127 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781936805 CA8714026 |
130 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA8714028 rs782420185 |
131 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA400650016 rs1555676383 |
132 | S>C | No |
ClinGen gnomAD |
|
|
CA8714029 rs575763735 |
134 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714030 rs376238247 |
134 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1555676390 CA400650032 |
135 | G>E | No |
ClinGen gnomAD |
|
|
rs1228752938 CA400650036 |
136 | E>Q | No |
ClinGen TOPMed |
|
|
rs1291620052 CA400650043 |
137 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs531549068 CA8714031 |
137 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368869395 CA8714032 |
138 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 138 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8714034 rs371452398 |
139 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371452398 CA8714033 |
139 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400650080 rs1399535026 |
141 | P>S | No |
ClinGen TOPMed |
|
|
rs782171821 CA8714036 |
142 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8714035 rs781897108 |
142 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8714038 rs781813116 |
145 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA293036504 rs548374799 |
147 | S>F | No |
ClinGen 1000Genomes |
|
|
CA400650142 rs1461223936 |
147 | S>P | No |
ClinGen TOPMed |
|
|
CA400650193 rs1555676406 |
152 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 153 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs561988667 CA8714039 |
154 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1555676411 CA400650227 |
155 | S>A | No |
ClinGen gnomAD |
|
|
rs1183978837 CA400645883 |
158 | R>S | No |
ClinGen TOPMed |
|
|
rs1419598741 CA400645942 |
160 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1555677127 CA400645911 |
160 | S>P | No |
ClinGen gnomAD |
|
|
rs1242341724 CA400645957 |
161 | L>S | No |
ClinGen TOPMed |
|
|
rs1048762027 CA292992600 |
162 | S>C | No |
ClinGen Ensembl |
|
|
CA400646029 rs1555677140 |
164 | E>A | No |
ClinGen gnomAD |
|
|
rs9910506 CA8714062 CA400646066 VAR_033666 |
165 | M>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8714063 rs781825137 |
167 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8714064 rs782490099 |
168 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1204632796 CA400646170 |
171 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA400646156 rs1263944538 |
171 | D>N | No |
ClinGen TOPMed |
|
|
rs1598205039 CA400646168 |
171 | D>V | No |
ClinGen Ensembl |
|
|
rs1348553674 CA400646200 |
173 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1281336057 CA400646238 |
175 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1316092 CA400646230 COSM1316093 rs1568134149 |
175 | A>T | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs943027217 CA292992638 |
177 | S>C | No |
ClinGen gnomAD |
|
|
CA400646257 rs1555677156 |
178 | T>I | No |
ClinGen gnomAD |
|
|
rs782198833 CA8714066 |
179 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA400646264 rs1568134230 |
180 | E>K | No |
ClinGen Ensembl |
|
|
CA400646289 rs1555677163 |
183 | R>G | No |
ClinGen gnomAD |
|
|
rs1568134281 CA400646293 |
183 | R>I | No |
ClinGen Ensembl |
|
|
CA8714069 rs188830334 |
186 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8714070 rs782337349 |
187 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714071 rs781961293 |
188 | A>G | No |
ClinGen ExAC |
|
| TCGA novel | 188 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555677170 CA400646397 |
189 | H>L | No |
ClinGen gnomAD |
|
|
rs782325750 CA8714073 |
189 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8714075 rs782156591 |
192 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs181848970 CA8714077 |
196 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1336915931 CA400646487 |
196 | N>S | No |
ClinGen TOPMed |
|
|
CA400646600 rs1378310060 |
197 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA400646598 rs1378310060 |
197 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA292994015 rs895460821 |
198 | A>G | No |
ClinGen Ensembl |
|
|
rs375465544 CA8714091 |
199 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA292994017 rs1014522145 |
200 | C>F | No |
ClinGen gnomAD |
|
|
CA400646617 rs1014522145 |
200 | C>Y | No |
ClinGen gnomAD |
|
|
rs782427568 CA8714092 |
201 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400646624 rs782427568 |
201 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714094 rs782278813 |
208 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 209 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8714095 rs782419355 |
209 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs201907583 CA8714098 |
214 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA292994091 rs369893098 |
217 | S>P | No |
ClinGen ESP |
|
|
CA8714099 rs200178960 |
218 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8714100 rs150732992 |
220 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1555677811 CA400646748 |
220 | D>H | No |
ClinGen gnomAD |
|
|
CA400646747 rs1555677811 |
220 | D>N | No |
ClinGen gnomAD |
|
|
CA400646758 rs782715885 |
221 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782715885 CA8714101 |
221 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714103 rs782175083 |
222 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA400646776 rs782781511 |
224 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781875470 CA8714105 |
224 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714104 rs782781511 |
224 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714107 rs200923114 |
225 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200923114 CA8714106 |
225 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782486349 CA400646785 |
226 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714108 rs782486349 |
226 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598210614 CA400646812 |
230 | K>* | No |
ClinGen Ensembl |
|
|
CA400646821 rs1299815442 |
231 | S>N | No |
ClinGen TOPMed |
|
|
rs782534703 CA8714109 |
232 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782683410 CA8714110 |
234 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782683410 CA400646842 |
234 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 238 | D>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782499032 CA8714133 |
239 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555678147 CA400647447 |
240 | E>D | No |
ClinGen gnomAD |
|
|
rs552376826 CA8714136 |
243 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8714137 rs782688761 |
244 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs201242288 CA292994936 |
246 | G>E | No |
ClinGen Ensembl |
|
|
rs782398246 CA8714139 |
247 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1447979647 CA400647525 |
248 | P>A | No |
ClinGen TOPMed |
|
|
CA400647524 rs1447979647 |
248 | P>S | No |
ClinGen TOPMed |
|
|
CA400647537 rs1598214110 |
249 | N>D | No |
ClinGen Ensembl |
|
|
rs1315205439 CA400647564 |
250 | A>V | No |
ClinGen TOPMed |
|
|
CA8714142 rs531625047 |
253 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8714143 rs782010350 |
254 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1360287145 CA400647628 |
255 | E>K | No |
ClinGen TOPMed |
|
|
CA400647644 rs1555678172 |
256 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 257 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782155467 CA8714144 |
257 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs371286401 CA8714145 |
258 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8714146 rs371286401 |
258 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782529622 CA292995003 |
258 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8714148 rs782749276 |
259 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400647693 rs1555678190 |
260 | A>T | No |
ClinGen gnomAD |
|
|
rs1568139170 CA400647723 |
261 | I>M | No |
ClinGen Ensembl |
|
|
rs781792125 CA8714149 |
261 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714152 rs782810607 |
264 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs781908567 CA8714153 |
265 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555678200 CA400647825 |
266 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1555678200 CA400647829 |
266 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8714154 rs782517407 |
266 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782657808 CA8714155 |
267 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA400647834 rs1555678204 |
267 | Y>H | No |
ClinGen gnomAD |
|
|
rs1213938662 CA400647879 |
268 | H>Q | No |
ClinGen TOPMed |
|
|
CA8714158 rs782579434 |
271 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA400647960 rs1555678237 |
272 | P>R | No |
ClinGen gnomAD |
|
|
CA8714160 rs782269958 |
273 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782269958 CA400647969 |
273 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400647976 rs782639472 |
273 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714161 rs782639472 |
273 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782253362 CA8714162 |
274 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8714163 rs551041753 |
275 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400648027 rs1555678266 |
277 | P>R | No |
ClinGen gnomAD |
|
|
CA8714165 rs368152443 |
278 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8714164 rs781963520 |
278 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA400648066 rs1555678282 |
280 | K>R | No |
ClinGen gnomAD |
|
|
rs1555678285 CA400648077 |
281 | E>* | No |
ClinGen gnomAD |
|
|
CA400648090 rs1555678291 |
282 | Y>N | No |
ClinGen gnomAD |
|
|
CA8714167 rs782018529 |
284 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA400648120 rs1287437538 |
284 | H>R | No |
ClinGen TOPMed |
|
|
CA400648118 rs782018529 |
284 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA400648128 rs1555678302 |
285 | S>* | No |
ClinGen gnomAD |
|
| TCGA novel | 286 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8714169 rs201746810 |
289 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1346531744 CA400648159 |
290 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1555678306 CA400648165 |
291 | A>T | No |
ClinGen gnomAD |
|
|
CA8714171 rs782006714 |
291 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM380134 COSM380135 rs782087429 CA8714172 |
292 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs782752393 CA8714173 |
293 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs782752393 CA400648178 |
293 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs781803433 CA400648189 |
295 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA400648191 rs1159215679 |
295 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs781803433 CA8714174 |
295 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA400648201 rs1555678321 |
297 | E>K | No |
ClinGen gnomAD |
|
|
rs782808247 CA8714176 |
299 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374645585 CA8714177 |
299 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs530062676 CA8714179 |
301 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400648229 rs1555678328 |
301 | F>Y | No |
ClinGen gnomAD |
|
|
CA8714180 rs782225177 |
302 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714181 rs782437630 |
303 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555678331 CA400648239 |
303 | G>R | No |
ClinGen gnomAD |
|
|
CA8714205 rs782598205 |
306 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1555678937 CA400648279 |
307 | D>Y | No |
ClinGen gnomAD |
|
|
CA8714206 rs782234603 |
309 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA292996946 rs782234603 |
309 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs782234603 CA8714207 |
309 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555678938 CA400648302 |
310 | F>L | No |
ClinGen gnomAD |
|
|
CA400648322 rs1555678939 |
313 | S>F | No |
ClinGen gnomAD |
|
|
rs782668950 CA400648326 |
314 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8714208 rs782668950 |
314 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs782289599 CA8714209 |
316 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8714210 rs782370862 |
316 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8714211 rs373744652 |
317 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8714212 rs373744652 |
317 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400648352 rs1555678943 |
318 | G>D | No |
ClinGen gnomAD |
|
|
CA292996994 rs965009425 |
321 | W>C | No |
ClinGen Ensembl |
|
|
CA400648388 rs1226110332 |
323 | V>E | No |
ClinGen TOPMed |
|
|
CA8714213 rs782354709 |
324 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA292996995 rs781934920 |
325 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA400648409 rs1555678952 |
326 | A>V | No |
ClinGen gnomAD |
|
|
CA400648410 rs1555678953 |
327 | Q>E | No |
ClinGen gnomAD |
|
|
CA400648414 rs1289374503 |
327 | Q>R | No |
ClinGen TOPMed |
|
|
rs782067637 CA8714215 |
330 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA400648447 rs1347848761 |
332 | R>M | No |
ClinGen TOPMed |
|
|
rs923494028 CA292997002 |
334 | R>K | No |
ClinGen Ensembl |
|
|
rs782786689 CA8714216 |
336 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1305217445 CA400648487 |
338 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs782120549 CA8714218 |
340 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs377096878 CA8714217 |
340 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8714219 rs782785993 |
341 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA400648526 rs1555679026 |
342 | N>I | No |
ClinGen gnomAD |
|
|
rs1481344357 CA400648551 |
344 | N>K | No |
ClinGen TOPMed |
|
|
rs1209349727 CA400648555 |
345 | R>G | No |
ClinGen TOPMed |
|
|
rs1568144428 CA400648581 |
347 | T>A | No |
ClinGen Ensembl |
|
|
rs782019223 CA8714234 |
347 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA8714235 rs782160701 |
350 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 351 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8714236 rs370512192 |
354 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1555679048 CA400648702 |
355 | F>L | No |
ClinGen gnomAD |
|
|
rs782382438 CA8714238 |
356 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs782090297 CA8714240 |
357 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782090297 CA8714241 |
357 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 357 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781796555 CA8714243 |
360 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782072764 CA8714244 |
362 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs782072764 CA400648837 |
362 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8714245 rs782794868 |
362 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400648865 rs1374186098 CA400648863 |
363 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs201814510 CA8714247 |
363 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400648893 rs1555679063 |
364 | T>I | No |
ClinGen gnomAD |
|
|
rs782723967 CA8714249 |
366 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM259977 CA8714250 COSM259976 rs781835053 |
367 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA400648998 rs1177776677 |
369 | H>D | No |
ClinGen TOPMed |
|
|
rs1457094511 CA400649004 |
369 | H>R | No |
ClinGen TOPMed |
|
|
CA400649046 rs1410137322 |
371 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8714253 rs377568385 |
374 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782583355 CA8714255 |
375 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA400649146 rs1555679071 |
375 | L>V | No |
ClinGen gnomAD |
|
|
rs782566258 CA8714257 |
378 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714256 rs782283049 |
378 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714258 rs782628418 |
380 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA400649248 rs1555679081 |
381 | E>Q | No |
ClinGen gnomAD |
|
|
rs189509203 CA8714259 |
383 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555679088 CA400649302 |
384 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 389 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555679252 CA400650156 |
389 | A>T | No |
ClinGen gnomAD |
|
|
rs1555679255 CA400650169 |
389 | A>V | No |
ClinGen gnomAD |
|
|
CA292997771 rs1010520041 |
391 | G>D | No |
ClinGen Ensembl |
|
|
rs782287005 CA8714280 |
391 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs367639602 CA8714281 |
393 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA292997776 rs371935148 |
394 | I>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs574517044 CA292997773 |
394 | I>V | No |
ClinGen Ensembl |
|
|
CA400650255 rs1555679262 |
395 | K>E | No |
ClinGen gnomAD |
|
|
rs199826881 CA292997798 |
396 | E>D | No |
ClinGen Ensembl |
|
|
rs200564391 CA400650285 |
397 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400650292 rs1555679267 |
398 | T>I | No |
ClinGen gnomAD |
|
|
CA400650299 rs1555679272 |
399 | D>E | No |
ClinGen gnomAD |
|
|
rs1168995194 CA626882279 |
400 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1568146072 CA400650301 |
400 | H>N | No |
ClinGen Ensembl |
|
|
rs781914989 CA8714285 |
400 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400650303 rs1568146072 |
400 | H>Y | No |
ClinGen Ensembl |
|
|
rs1420820733 CA400650313 |
401 | K>R | No |
ClinGen TOPMed |
|
|
CA8714286 rs782060431 |
404 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA8714288 rs782793249 |
409 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs782120062 CA400650371 CA8714290 |
409 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782793249 CA8714289 |
409 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA400650381 rs1479658846 |
411 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8714293 rs374558949 |
414 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA400650405 rs1490370902 |
415 | E>K | No |
ClinGen TOPMed |
|
|
CA8714294 rs782102110 |
416 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1555679292 CA400650439 |
420 | Q>E | No |
ClinGen gnomAD |
|
|
rs782696236 CA8714295 |
420 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1231775683 CA400650455 |
422 | S>N | No |
ClinGen TOPMed |
|
|
rs781810930 CA8714296 |
424 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs782544707 CA8714297 |
425 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs781868398 CA8714299 |
426 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400650486 rs1555679295 |
427 | E>* | No |
ClinGen Ensembl |
|
|
CA8714300 rs782462746 |
428 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA400650499 rs1555679298 |
429 | G>R | No |
ClinGen gnomAD |
|
|
CA8714301 rs782621467 |
431 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714302 rs782172808 |
434 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs567425550 CA292997877 |
435 | P>A | No |
ClinGen 1000Genomes |
|
|
rs377023210 CA400650572 |
438 | S>A | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA400650574 rs1369597060 |
438 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA400650573 rs1369597060 |
438 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs377023210 CA8714323 |
438 | S>P | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
| TCGA novel | 439 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464893006 CA400650579 |
439 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs782543732 CA8714325 |
439 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8714326 rs782641519 |
440 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782266733 CA8714328 |
440 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782266733 CA8714327 |
440 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs908179779 CA292998677 |
444 | P>R | No |
ClinGen Ensembl |
|
|
CA400650675 rs1555679747 |
445 | Y>C | No |
ClinGen gnomAD |
|
|
rs782620880 CA8714329 |
446 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs782189016 CA8714330 |
446 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs782015827 CA292998716 |
447 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8714332 rs782020863 |
448 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400650724 rs1254163112 |
448 | H>R | No |
ClinGen TOPMed |
|
|
CA8714334 rs782377222 |
449 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA400650761 rs1568149413 |
452 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 454 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1254940378 CA400650777 |
455 | V>I | No |
ClinGen TOPMed |
|
|
CA400650784 rs1230428188 |
456 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs573184058 CA8714337 |
458 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400650802 rs1555679788 |
458 | H>R | No |
ClinGen gnomAD |
|
|
rs553416493 CA8714335 |
458 | H>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
CA8714338 rs782096116 |
459 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs782313041 CA292998741 |
459 | K>R | No |
ClinGen Ensembl |
|
|
CA292998754 rs945402079 |
460 | Q>E | No |
ClinGen Ensembl |
|
|
CA400650824 rs1568149525 |
461 | F>L | No |
ClinGen Ensembl |
|
|
CA400650853 rs1555679799 |
465 | R>T | No |
ClinGen gnomAD |
|
|
rs782695685 CA8714339 |
466 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1555679804 | 467 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374329754 CA400650872 |
468 | Q>* | No |
ClinGen TOPMed |
|
|
rs544643355 CA8714341 |
469 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs200075663 CA8714342 |
469 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8714343 rs781852974 |
470 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1555679818 CA400650910 |
474 | T>A | No |
ClinGen gnomAD |
|
|
CA400650914 rs533713383 |
474 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA292998777 rs533713383 |
474 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1170954523 CA400650924 |
476 | V>L | No |
ClinGen TOPMed |
|
|
CA8714345 rs782723299 |
477 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714346 rs781841347 |
477 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400650932 rs781841347 |
477 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292999466 rs369950379 |
483 | A>E | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs781896543 CA8714367 |
483 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA292999455 rs369950379 |
483 | A>V | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
| TCGA novel | 485 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA292999473 rs1054024784 |
485 | T>N | No |
ClinGen Ensembl |
|
|
CA292999477 rs782567709 |
487 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400651018 rs868954469 |
487 | A>S | No |
ClinGen Ensembl |
|
|
rs782567709 CA8714369 |
487 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714371 rs782468680 |
493 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868938232 CA400651059 |
493 | R>I | No |
ClinGen Ensembl |
|
| TCGA novel | 494 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1023719223 CA292999509 |
497 | V>I | No |
ClinGen Ensembl |
|
|
CA400651092 rs868961119 |
498 | Q>E | No |
ClinGen gnomAD |
|
|
rs868961119 CA400651091 |
498 | Q>K | No |
ClinGen gnomAD |
|
|
rs782047465 CA292999519 |
498 | Q>R | No |
ClinGen gnomAD |
|
|
rs868928591 CA400651101 |
499 | E>* | No |
ClinGen Ensembl |
|
|
rs782654933 CA8714372 |
499 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA400651118 rs1221751011 |
501 | I>T | No |
ClinGen TOPMed |
|
|
rs1555680155 CA400651129 |
503 | P>S | No |
ClinGen gnomAD |
|
|
CA292999526 rs781953271 |
507 | H>N | No |
ClinGen TOPMed |
|
|
rs1353494003 CA400651157 |
507 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA400651152 rs781953271 |
507 | H>Y | No |
ClinGen TOPMed |
|
|
CA400651161 rs868940493 |
508 | E>* | No |
ClinGen Ensembl |
|
|
rs142127019 CA8714375 |
509 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376798231 CA292999858 |
516 | I>M | No |
ClinGen Ensembl |
|
|
rs1555680378 CA400651247 |
516 | I>T | No |
ClinGen gnomAD |
|
|
rs781873609 CA8714393 |
517 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400651251 rs781873609 |
517 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782517081 CA8714394 |
518 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA400651284 rs1555680380 |
521 | A>T | No |
ClinGen gnomAD |
|
|
rs782687267 CA8714397 |
522 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs782687267 CA8714396 |
522 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8714398 COSM256550 rs782452611 COSM256551 |
523 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8714399 rs782568738 |
523 | R>H | Variant assessed as Somatic; 4.745e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782225141 CA8714400 |
525 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8714401 rs782336259 |
526 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA400651336 rs1555680381 |
527 | P>R | No |
ClinGen gnomAD |
|
|
rs782236026 CA8714404 |
533 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs782236026 CA8714403 |
533 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA8714405 rs782013398 |
534 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400651403 rs1555680397 |
535 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 537 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781956286 CA8714408 |
537 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs782367488 CA8714407 |
537 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714410 rs199726407 COSM1385306 COSM1385307 |
542 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1555680417 CA400651492 |
546 | R>G | No |
ClinGen gnomAD |
|
|
CA400651502 rs1555680425 |
547 | G>A | No |
ClinGen gnomAD |
|
|
rs542115449 CA8714413 |
547 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA400651512 rs1438138860 |
549 | L>F | No |
ClinGen TOPMed |
|
|
CA400651518 rs1331220177 |
550 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA292999922 rs1031227435 |
551 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs781790194 CA8714415 |
555 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8714416 rs782485194 |
557 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs781910599 CA293000441 |
558 | M>I | No |
ClinGen gnomAD |
|
|
rs200401716 CA8714431 |
559 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400651626 rs1555680592 |
562 | E>G | No |
ClinGen gnomAD |
|
|
CA8714432 rs372672055 |
564 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782131231 CA400651641 |
564 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782131231 CA8714433 |
564 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781897645 CA8714435 |
566 | L>R | No |
ClinGen ExAC |
|
|
rs1451154794 CA400651658 |
567 | P>L | No |
ClinGen TOPMed |
|
|
rs201896272 CA8714437 |
567 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400651660 rs1212220659 |
568 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1555680609 CA400651677 |
570 | L>P | No |
ClinGen gnomAD |
|
|
rs1357652216 CA400651692 |
572 | Q>H | No |
ClinGen TOPMed |
|
|
rs782479856 CA8714439 |
572 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1555680612 CA400651701 |
573 | F>L | No |
ClinGen gnomAD |
|
|
rs782655699 CA8714440 |
574 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714442 rs782557048 |
575 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA400651718 rs1555680616 |
576 | L>P | No |
ClinGen gnomAD |
|
|
rs1362627076 CA400651715 |
576 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 577 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8714443 rs782660783 |
578 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA400651738 rs1555680620 |
579 | S>F | No |
ClinGen gnomAD |
|
|
CA400651761 rs1555680628 |
583 | L>R | No |
ClinGen gnomAD |
|
|
CA8714446 rs781970308 |
584 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400651775 rs1321012943 |
585 | K>N | No |
ClinGen TOPMed |
|
|
rs1555680637 CA400651773 |
585 | K>R | No |
ClinGen gnomAD |
|
|
rs1043607654 CA293000500 |
586 | M>I | No |
ClinGen gnomAD |
|
|
rs1555680648 CA400651791 |
587 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 589 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA293000501 rs926499981 |
589 | Q>R | No |
ClinGen Ensembl |
|
|
CA8714448 rs368231222 |
592 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368231222 COSM3388097 CA8714449 COSM3388098 |
592 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA8714450 rs782162055 |
593 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs782531825 CA8714451 |
594 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782531825 CA8714452 |
594 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 595 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555680674 CA400651867 |
598 | K>R | No |
ClinGen gnomAD |
|
|
rs1598246065 CA400651876 |
599 | K>R | No |
ClinGen Ensembl |
|
|
rs1391757108 CA400651882 |
600 | E>* | No |
ClinGen TOPMed |
|
|
rs782043221 CA8714454 |
601 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782043221 CA8714455 |
601 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245113744 CA400651891 |
601 | A>V | No |
ClinGen TOPMed |
|
|
rs1201016081 CA400651894 |
602 | C>G | No |
ClinGen TOPMed |
|
|
CA400651906 rs1555680688 |
603 | R>S | No |
ClinGen TOPMed |
|
|
rs781878279 CA8714456 |
604 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782508871 CA8714457 |
605 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA8714458 rs782817185 |
606 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA293000533 rs372545881 |
606 | R>P | No |
ClinGen ESP TOPMed |
|
|
CA400651922 rs372545881 |
606 | R>Q | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 607 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8714460 rs782450931 |
609 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1555680703 CA400651957 |
611 | L>P | No |
ClinGen gnomAD |
|
|
CA8714483 rs782681507 |
615 | I>T | No |
ClinGen ExAC TOPMed |
|
|
rs781886614 CA8714484 |
616 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400652010 rs1226559844 |
617 | E>* | No |
ClinGen TOPMed |
|
|
CA293000626 rs964924046 |
617 | E>A | No |
ClinGen gnomAD |
|
|
CA8714486 rs782560775 |
618 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA400652024 rs1555680754 |
619 | L>R | No |
ClinGen gnomAD |
|
|
CA400652026 rs1555680756 |
620 | R>G | No |
ClinGen gnomAD |
|
|
CA400652035 rs1555680758 |
621 | R>T | No |
ClinGen gnomAD |
|
|
rs782222198 CA8714487 |
622 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1555680763 CA400652049 |
623 | D>G | No |
ClinGen gnomAD |
|
|
CA293000663 rs375772750 |
623 | D>N | No |
ClinGen ESP TOPMed |
|
|
CA8714489 rs782399845 |
624 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400652054 rs1555680772 |
624 | L>H | No |
ClinGen gnomAD |
|
|
rs782399845 CA8714488 |
624 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400652064 rs1555680775 COSM1247523 COSM1247522 |
626 | T>A | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1555680776 CA400652068 |
626 | T>S | No |
ClinGen gnomAD |
|
|
CA400652071 rs1555680777 |
627 | T>A | No |
ClinGen gnomAD |
|
|
CA400652074 rs1555680781 |
627 | T>S | No |
ClinGen gnomAD |
|
|
CA8714490 rs782294013 |
628 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA400652083 rs782406587 |
629 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA8714491 rs782406587 |
629 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA8714492 rs781940766 |
630 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8714493 rs555264199 |
630 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 632 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8714494 rs369037009 |
632 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1357668845 CA400652110 |
633 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA400652117 rs1336454581 |
634 | E>A | No |
ClinGen TOPMed |
|
|
rs914581816 CA293000685 |
635 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1555680799 CA400652127 |
635 | H>L | No |
ClinGen gnomAD |
|
|
rs1555680799 CA400652125 |
635 | H>P | No |
ClinGen gnomAD |
|
|
CA400652124 rs914581816 |
635 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1555680810 CA400652144 |
637 | K>R | No |
ClinGen gnomAD |
|
|
rs1555681107 CA400652193 |
642 | F>S | No |
ClinGen gnomAD |
|
|
CA293001320 rs954498927 |
642 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs373009981 CA8714512 |
643 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs185494775 CA8714514 |
643 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8714513 rs185494775 |
643 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA400652213 rs1555681114 |
645 | C>Y | No |
ClinGen gnomAD |
|
|
rs781987477 CA8714515 |
646 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8714516 rs782286321 |
647 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8714517 rs782398984 |
647 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8714519 rs376750855 |
649 | Q>E | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1293512051 CA400652244 |
650 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA8714521 rs550794457 |
650 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8714522 rs782124781 |
652 | T>A | No |
ClinGen ExAC |
|
|
CA8714523 rs782817997 |
652 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570037230 CA8714526 |
653 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8714525 rs781889906 |
653 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM3820259 COSM3820260 CA400652269 rs1304063205 |
654 | S>* | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA8714529 rs1353511860 |
656 | I>K | No |
ClinGen TOPMed |
|
|
rs1353511860 CA400652281 |
656 | I>T | No |
ClinGen TOPMed |
|
|
rs370657417 CA8714528 |
656 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782474329 CA8714531 |
657 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs782651836 CA8714532 |
658 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1167743530 CA400652298 |
659 | N>H | No |
ClinGen TOPMed |
|
|
CA8714533 rs201158989 |
660 | R>* | Variant assessed as Somatic; 0.0006036 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8714534 rs115608072 |
660 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8714538 rs782301262 |
664 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs782301262 CA400652332 |
664 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8714539 rs376949691 |
665 | R>C | Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376949691 CA400652338 |
665 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8714540 rs782202745 |
665 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs376949691 CA400652337 |
665 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782381678 CA8714541 |
666 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8714542 rs782676364 |
667 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3421795 CA8714544 COSM3421796 rs370403874 |
667 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA400652351 rs1555681152 |
668 | K>* | No |
ClinGen gnomAD |
|
|
CA400652355 rs1555681154 |
668 | K>N | No |
ClinGen Ensembl |
|
|
rs782744733 CA8714548 |
670 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs150627155 CA8714547 |
670 | Y>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA400652372 rs371279591 |
671 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371279591 CA8714550 |
671 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782812536 CA8714551 |
672 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8714552 rs781888057 |
673 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714553 rs782455424 |
674 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354675698 CA400652428 |
678 | C>F | No |
ClinGen TOPMed |
|
|
CA400652424 rs1598251417 |
678 | C>R | No |
ClinGen Ensembl |
|
|
CA8714556 rs782554224 |
679 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374995934 CA8714557 |
679 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400652439 rs880000387 |
680 | K>R | No |
ClinGen Ensembl |
|
|
CA400652457 rs1555681192 |
682 | M>I | No |
ClinGen gnomAD |
|
|
rs572488187 CA8714559 |
682 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA293001424 rs917389853 |
684 | M>I | No |
ClinGen Ensembl |
|
|
CA400652469 rs1555681194 |
684 | M>V | No |
ClinGen gnomAD |
|
|
CA8714560 rs782300362 |
685 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA400652484 rs1555681200 |
686 | T>A | No |
ClinGen gnomAD |
|
|
rs782594800 CA8714562 |
687 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779577755 COSM982944 COSM982943 CA8714561 |
687 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1568158027 CA400652514 |
690 | M>I | No |
ClinGen Ensembl |
|
|
CA400652510 rs1555681208 |
690 | M>L | No |
ClinGen gnomAD |
|
|
CA293001434 rs190786161 |
690 | M>T | No |
ClinGen 1000Genomes TOPMed |
|
|
CA293003473 rs990061896 |
691 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs782125412 CA8714597 |
691 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555681568 CA400652539 |
692 | F>L | No |
ClinGen gnomAD |
|
|
rs1555681571 CA400652565 |
695 | L>P | No |
ClinGen gnomAD |
|
|
rs1314289123 CA400652576 |
697 | E>K | No |
ClinGen TOPMed |
|
|
rs928443778 CA293003484 |
698 | E>G | No |
ClinGen gnomAD |
|
|
rs550740598 CA8714599 |
698 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8714600 rs782066788 |
699 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448927939 CA400652620 |
703 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 705 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782719413 COSM3403123 COSM3403122 CA8714602 |
708 | R>* | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8714603 rs781849740 |
708 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302161794 CA400652681 |
712 | N>S | No |
ClinGen TOPMed |
|
|
CA400652698 rs1555681597 |
714 | A>V | No |
ClinGen gnomAD |
|
|
CA400652721 rs1555681598 |
717 | K>N | No |
ClinGen gnomAD |
|
|
COSM1385310 COSM1385311 rs567605055 CA8714604 |
718 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8714605 COSM1661106 rs536577178 COSM1661107 |
718 | R>Q | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1555681604 CA400652732 |
719 | D>E | No |
ClinGen Ensembl |
|
|
CA8714607 rs201601893 |
720 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8714606 rs781862252 |
720 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8714609 rs374766116 |
724 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8714610 rs538315010 |
724 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400652778 rs1555681616 |
726 | Q>R | No |
ClinGen gnomAD |
|
|
CA8714611 rs558623027 |
730 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs374710733 CA293003576 |
732 | M>L | No |
ClinGen Ensembl |
|
|
CA400652831 rs1555681620 |
733 | E>D | No |
ClinGen gnomAD |
|
|
rs1555681624 CA400652843 |
735 | Y>S | No |
ClinGen gnomAD |
|
|
CA400652851 rs1256135324 |
736 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8714613 rs782615131 |
736 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1555681631 CA400652856 |
737 | K>E | No |
ClinGen gnomAD |
|
|
CA8714645 rs782153861 |
742 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA400652915 rs1321788935 |
743 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1388646757 CA400652917 |
744 | A>T | No |
ClinGen TOPMed |
|
|
CA400652923 rs1598257553 |
745 | E>K | No |
ClinGen Ensembl |
|
|
CA400652931 rs1555681717 |
746 | A>T | No |
ClinGen gnomAD |
|
|
rs782325464 CA400652937 |
747 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782325464 CA8714646 |
747 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400652959 rs1464460198 |
750 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA400652962 rs1555681728 |
750 | E>D | No |
ClinGen gnomAD |
|
|
CA293003727 rs944328554 |
750 | E>K | No |
ClinGen gnomAD |
|
|
CA8714648 rs782097869 |
751 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs782721114 CA8714649 |
752 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781864941 CA8714650 |
753 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200122022 CA8714652 |
757 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782445438 CA8714654 |
759 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400653023 rs1555681736 |
759 | K>R | No |
ClinGen gnomAD |
|
|
rs373296848 CA8714655 |
760 | S>Y | Variant assessed as Somatic; 4.655e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8714656 rs376620472 |
762 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA293003769 rs893912103 |
763 | Q>H | No |
ClinGen Ensembl |
|
|
CA400653071 rs1555681892 |
765 | L>S | No |
ClinGen gnomAD |
|
|
rs782676857 CA8714677 |
766 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA400653097 rs782433279 |
769 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs782433279 CA8714679 |
769 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1234441681 CA400653098 |
769 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA293004085 rs915443061 |
770 | R>T | No |
ClinGen TOPMed |
|
|
rs1304867551 CA400653136 |
775 | K>E | No |
ClinGen TOPMed |
|
|
rs534035908 CA8714680 |
776 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA400653151 rs1373801756 |
777 | E>K | No |
ClinGen TOPMed |
|
|
CA400653181 rs1555681905 |
780 | I>M | No |
ClinGen gnomAD |
|
|
rs187173169 CA8714682 |
782 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377398294 CA8714681 |
782 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400653215 rs1377542522 |
785 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA400653213 rs1555681913 |
785 | D>G | No |
ClinGen gnomAD |
|
|
CA8714687 CA8714686 rs544761018 |
786 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs577106453 CA8714685 |
786 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782618398 CA8714684 |
786 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782237628 CA400653222 |
787 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8714688 rs782237628 |
787 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782349844 CA8714690 |
789 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA400653243 rs1180523278 |
790 | N>D | No |
ClinGen TOPMed |
|
|
CA8714693 rs782011259 COSM437160 COSM437159 |
791 | D>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA400653265 rs1555681934 |
793 | D>H | No |
ClinGen gnomAD |
|
|
rs1555681934 CA400653264 |
793 | D>N | No |
ClinGen gnomAD |
|
|
rs1259248062 CA400653274 |
794 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8714696 rs782819510 |
794 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA400653293 rs201451985 |
797 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8714698 rs575666923 |
797 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8714697 rs201451985 |
797 | R>W | Variant assessed as Somatic; 9.306e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA400653302 rs1311878920 |
798 | E>D | No |
ClinGen TOPMed |
|
|
rs1317403063 CA400653297 |
798 | E>K | No |
ClinGen TOPMed |
|
|
rs1231289400 CA400653304 |
799 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1231289400 CA400653305 |
799 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782687832 CA8714699 |
801 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8714700 rs781839865 |
802 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782779989 CA8714702 |
803 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555681942 CA400653331 |
803 | R>H | No |
ClinGen gnomAD |
|
|
rs781851961 CA400653334 |
804 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs781851961 CA8714703 |
804 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8714705 rs782669275 |
806 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs544396061 CA8714704 |
806 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370885507 CA8714707 |
807 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8714706 rs368369295 |
807 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA293004196 VAR_050751 rs11550922 |
811 | A>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA8714708 rs200397675 |
814 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1476427620 CA400653410 |
816 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1476427620 CA400653411 |
816 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs782383136 CA8714710 |
817 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA293004211 rs192102697 |
820 | S>F | No |
ClinGen 1000Genomes |
|
| TCGA novel | 820 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q96GE4
1 regional properties for Q96GE4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Phosphatidylethanolamine-binding, conserved site | 66 - 88 | IPR001858 |
3 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. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8BVV7 | Cep95 | Centrosomal protein of 95 kDa | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGSDAEWVT | IANNLLFKCH | IHLRIHELQD | CDANVFIALY | QSILGEKVPD | LIVIPRSQED |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DAHNVQAVID | SLALDYLQVS | LSHITGENIV | KGDKESIKNL | LEIFDGLLEY | LTERISETSH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EKSETEQYFK | ESDRGERLEE | PESTKESKSS | WKRVSFGRCS | LSSEMLGPSW | DGDEAESTGE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IIRLGDTAHT | FSLRSNGAQC | PNEMLSKKAL | ASPSSKSHED | MLYPPSVLSK | SRTSFVEDTE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TLSVSGIPNA | RKLGEPIRAA | IPLHPPYHPS | EPRAPCPIGK | EYLHSSHCSP | AVNSTGEHTE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FSGDLDDGLF | LISKLPKGSK | WEVYPAQVQG | PRTRKPPKGK | RNENRATASS | CNSPFPQRPR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KRLTEQELHD | VSEKLSQRLS | ELDWMLKSAL | GDRIKEKTDH | KEENTGNEEV | EDGTEETLSQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HSDGIVEYGP | KKSRPGLSMR | RKPPYRSHSL | SPSPVNKHKQ | FHLERKRQRK | PRETDVRQFQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AQAFTEAFER | ELRRHKVQEN | IGPLRIHEKE | EETEKIYRGE | AVRKGTPECS | QPWKIYSRKT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TTQSLRGGLP | KPNKAVPMKV | SEHSLLPLML | EQFPFLYVSG | PTLSKMWKQQ | IAQVEQLKKE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ACRENRSKKK | LQDEIEEALR | RHDLLTTLVK | KEYEHNKRLQ | DFKDCIRRQR | LTQSKIKENR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QQIVRARKYY | DDYRVQLCAK | MMRMRTREEM | IFKKLFEEGL | NIQKQRLRDL | RNYAKEKRDE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QRRRHQDELD | SMENYYKDQF | SLLAEAISQE | HQELKAREKS | QAQTLHKVKR | ELRSKMEKEI |
| 790 | 800 | 810 | 820 | ||
| QQLQDMITQN | DDDVFFRELE | AERFRSRLQL | ASFQYSKSPS | L |