Q9H0K4
PR
Gene name |
RSPH6A |
Protein name |
Radial spoke head protein 6 homolog A |
Names |
Radial spoke head-like protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:81492 |
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 Q9H0K4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H0K4-F1 | Predicted | AlphaFoldDB |
732 variants for Q9H0K4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA9523088 rs761196237 |
3 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1382075321 CA406417878 |
5 | P>L | No |
ClinGen gnomAD |
|
|
rs1310482774 CA406417857 |
6 | P>H | No |
ClinGen TOPMed |
|
|
rs978649638 CA309002780 |
6 | P>T | No |
ClinGen TOPMed |
|
|
rs746628926 CA9523085 |
8 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs775123898 CA9523084 |
10 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1163640253 CA406417754 |
12 | A>P | No |
ClinGen gnomAD |
|
|
CA406417716 rs1459516914 |
13 | Q>H | No |
ClinGen gnomAD |
|
|
rs771794563 CA9523083 |
14 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA309002771 rs745718111 |
15 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745718111 CA9523082 |
15 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778820448 CA406417662 |
16 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs778820448 CA9523081 |
16 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9523079 rs748158807 |
18 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406417632 rs770944981 |
18 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406417606 rs1211976089 |
19 | R>K | No |
ClinGen gnomAD |
|
|
rs1274193389 CA406417583 |
20 | T>I | No |
ClinGen TOPMed |
|
|
rs1252125268 CA406417565 |
21 | S>F | No |
ClinGen gnomAD |
|
|
CA309002762 rs1020220144 |
23 | A>S | No |
ClinGen TOPMed |
|
|
CA309002758 rs1006601814 |
24 | S>A | No |
ClinGen TOPMed |
|
|
rs751738242 CA9523076 |
24 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1600483177 CA406417471 |
26 | R>T | No |
ClinGen Ensembl |
|
|
CA406417449 rs1442260095 |
27 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA406417452 rs1303993698 |
27 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9523074 rs374435874 |
28 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9523073 rs369746898 |
29 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406417393 rs765817224 |
29 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406417406 rs369746898 |
29 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9523072 rs765817224 |
29 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406416558 rs754329866 |
30 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754329866 CA9523070 |
30 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762331797 CA9523071 |
30 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs760113704 CA9523068 |
32 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA9523067 rs775107351 |
33 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs759298444 CA9523065 |
34 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs374792584 CA9523064 |
34 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9523062 rs749210747 |
35 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523063 rs770658383 |
35 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749210747 CA406416486 |
35 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768724660 CA9523060 |
36 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9523061 rs151334205 |
36 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1301895263 CA406416457 |
37 | A>V | No |
ClinGen gnomAD |
|
|
CA406416443 rs1231350244 |
38 | A>V | No |
ClinGen gnomAD |
|
|
rs567033758 CA9523057 |
40 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 42 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779379990 CA9523055 |
42 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9523053 rs754309270 |
43 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA406416334 rs754309270 |
43 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1424144656 CA406416304 |
44 | Q>R | No |
ClinGen gnomAD |
|
|
CA309000443 rs995344873 |
47 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs752247079 CA9523050 |
47 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752247079 CA406416240 |
47 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61730713 CA9523049 |
48 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1484820025 CA406416199 |
49 | D>N | No |
ClinGen TOPMed |
|
|
rs12459916 CA9523048 |
50 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406416172 rs1253354231 |
50 | A>S | No |
ClinGen TOPMed |
|
|
rs12459916 CA9523047 VAR_037560 |
50 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1259943469 CA406416136 |
52 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1259943469 CA406416137 |
52 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA406416123 rs1211969809 |
53 | N>D | No |
ClinGen gnomAD |
|
|
CA9523046 rs770693674 |
54 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523044 rs773189806 |
55 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456072362 CA406416064 |
56 | G>A | No |
ClinGen TOPMed |
|
|
rs1568603089 CA406416073 |
56 | G>R | No |
ClinGen Ensembl |
|
|
CA406416005 rs1279602673 |
60 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769688353 CA9523043 |
61 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406415934 rs1419439056 |
64 | S>A | No |
ClinGen gnomAD |
|
|
CA406415930 rs1415125391 |
64 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA406415925 rs1415125391 |
64 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs772309204 CA406415898 |
65 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA406415882 rs1196796580 |
66 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA406415828 rs1385669144 |
68 | N>K | No |
ClinGen gnomAD |
|
|
CA406415774 rs1468682224 |
71 | M>I | No |
ClinGen gnomAD |
|
|
rs779012986 CA9523037 |
71 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs757624710 CA406415760 |
72 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523036 rs757624710 |
72 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61730712 CA406415733 |
73 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756666708 CA9523033 |
76 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9523032 rs753228589 |
80 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766979187 CA9523031 |
81 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448069188 CA406415584 |
81 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9523030 rs370119752 |
82 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1281674977 CA406415503 |
85 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1326494619 CA406415516 |
85 | M>L | No |
ClinGen gnomAD |
|
|
rs200874202 CA9523029 |
85 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523027 rs772927895 |
86 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523028 rs530811292 |
86 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406415422 rs1282203832 |
89 | S>C | No |
ClinGen gnomAD |
|
|
CA9523024 rs761801719 |
92 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA9523023 rs776714739 |
94 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA309000382 rs1042591421 |
95 | P>L | No |
ClinGen Ensembl |
|
|
rs1398985189 CA406415312 |
95 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1398985189 CA406415317 |
95 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1165812047 CA406415274 |
97 | E>G | No |
ClinGen gnomAD |
|
|
rs772217026 CA9523022 |
99 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA9523021 rs745999630 |
99 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA406415238 rs1416046796 |
99 | Q>P | No |
ClinGen gnomAD |
|
|
rs200426001 CA9523019 |
100 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9523020 rs774625431 |
100 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371215412 CA9523017 |
101 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1274469220 CA406415189 |
101 | Q>H | No |
ClinGen gnomAD |
|
|
CA406415202 rs1227780154 |
101 | Q>P | No |
ClinGen TOPMed |
|
|
CA9523015 rs529199371 |
102 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756505436 CA9523016 |
102 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs754472166 CA9523013 |
103 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751098497 CA9523011 |
105 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA406415059 rs766025467 |
108 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406415054 rs757936837 |
108 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs757936837 CA9523009 |
108 | R>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 108 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406415046 rs937709334 |
109 | M>L | No |
ClinGen TOPMed |
|
|
CA309000356 rs937709334 |
109 | M>V | No |
ClinGen TOPMed |
|
|
rs750121785 CA9523008 |
110 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA406415009 rs1348289265 |
111 | V>I | No |
ClinGen gnomAD |
|
|
rs377543353 CA9523007 |
112 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377543353 CA309000351 |
112 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9523004 rs764190896 |
113 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9523005 rs776692589 |
113 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201345094 CA9523003 |
115 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406414957 rs1254239487 |
115 | T>I | No |
ClinGen gnomAD |
|
|
CA9523002 rs201345094 |
115 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1172798371 CA406414946 |
116 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 120 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406414889 rs1467647046 |
121 | Q>* | No |
ClinGen gnomAD |
|
|
CA406414879 rs1244584342 |
121 | Q>L | No |
ClinGen gnomAD |
|
|
rs1244584342 CA406414883 |
121 | Q>P | No |
ClinGen gnomAD |
|
|
CA9522999 rs773491271 |
122 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs149887941 CA9523000 |
122 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200106454 CA9522998 |
124 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200106454 CA309000328 |
124 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309000324 rs1012725676 |
124 | Q>H | No |
ClinGen TOPMed |
|
|
CA406414840 rs1600482674 |
124 | Q>P | No |
ClinGen Ensembl |
|
|
rs189167732 CA309000321 |
125 | Q>H | No |
ClinGen Ensembl |
|
|
rs748570980 CA9522997 |
126 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA406414778 rs1600482657 |
127 | Q>P | No |
ClinGen Ensembl |
|
|
CA9522996 rs781663293 |
128 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365608610 CA406414744 |
128 | S>R | No |
ClinGen gnomAD |
|
|
CA406414752 rs1600482646 |
128 | S>T | No |
ClinGen Ensembl |
|
|
CA309000315 rs773692879 |
129 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 130 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369919857 CA9522995 CA9522994 |
131 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406414560 rs1436989552 |
136 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406414563 rs1436989552 |
136 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA406414555 rs757929235 |
137 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757929235 CA9522991 |
137 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749986050 CA9522990 |
140 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA406414455 rs1422420201 |
141 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 142 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9522988 rs757110417 |
143 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764098813 CA9522986 |
145 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309000292 rs760483481 |
146 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188594773 CA406414234 |
150 | N>S | No |
ClinGen TOPMed |
|
|
CA406414228 rs1188594773 |
150 | N>T | No |
ClinGen TOPMed |
|
| TCGA novel | 151 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773294180 CA9522981 |
152 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
COSM40561 rs1416970485 CA406414126 |
155 | D>N | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA406414097 rs1376471673 |
156 | Q>E | No |
ClinGen gnomAD |
|
|
CA406414085 rs1261695467 |
156 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9522979 rs202212190 |
159 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406414017 rs1160639236 |
160 | G>D | No |
ClinGen gnomAD |
|
|
rs141354888 CA309000277 |
161 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs540390229 CA9522976 |
164 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs900461380 CA309000271 |
165 | P>S | No |
ClinGen gnomAD |
|
|
rs900461380 CA406413959 |
165 | P>T | No |
ClinGen gnomAD |
|
|
rs138736390 CA9522975 |
167 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1187038213 CA406413928 |
167 | I>V | No |
ClinGen gnomAD |
|
|
CA406413899 rs771465829 |
169 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771465829 CA9522974 |
169 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600482499 CA406413878 |
170 | D>A | No |
ClinGen Ensembl |
|
|
rs1216509212 CA406413869 |
170 | D>E | No |
ClinGen gnomAD |
|
|
rs778674554 CA9522972 |
171 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9522973 rs745446064 |
171 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364047709 CA406413855 |
172 | A>T | No |
ClinGen TOPMed |
|
|
rs374704931 CA309000261 |
172 | A>V | No |
ClinGen ESP gnomAD |
|
|
rs753569714 CA309000256 |
173 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753569714 CA9522970 |
173 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146012403 CA9522968 |
175 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1453791503 CA406413792 |
176 | L>F | No |
ClinGen gnomAD |
|
|
CA9522967 rs752523978 |
177 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867824184 CA309000247 |
177 | P>S | No |
ClinGen Ensembl |
|
|
CA9522964 rs750543534 |
182 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA309000235 rs77094717 |
183 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9522963 rs77094717 |
183 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761980403 CA9522962 |
184 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406413676 rs1263717485 |
185 | Y>C | No |
ClinGen gnomAD |
|
|
rs1263717485 CA406413678 |
185 | Y>S | No |
ClinGen gnomAD |
|
|
CA9522960 rs764304251 |
186 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1211004751 CA406413662 |
186 | S>N | No |
ClinGen TOPMed |
|
|
rs200079375 CA9522959 |
186 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1215707001 CA406413651 |
187 | A>T | No |
ClinGen gnomAD |
|
|
rs961126431 CA309000222 |
187 | A>V | No |
ClinGen TOPMed |
|
|
rs775856821 CA9522958 |
189 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9522956 rs544366998 |
191 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748869950 CA9522953 |
193 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522952 rs748884692 |
194 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA406413553 rs1385614212 |
194 | P>S | No |
ClinGen TOPMed |
|
|
CA9522950 rs202165658 |
195 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522948 rs555098496 |
197 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9522946 rs535455466 |
198 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1178109817 CA406413487 |
199 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1178109817 CA406413484 |
199 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs757340184 CA9522944 |
199 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs757340184 CA406413495 |
199 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA406413481 rs1374563006 |
200 | Q>* | No |
ClinGen gnomAD |
|
|
rs1170937851 CA406413471 |
200 | Q>H | No |
ClinGen gnomAD |
|
|
rs754042823 CA9522943 |
201 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371400604 CA309000202 |
201 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9522942 rs200500980 |
203 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760915949 CA9522941 |
206 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309000197 rs760915949 |
206 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406413383 rs1227227153 |
208 | Q>* | No |
ClinGen gnomAD |
|
|
CA406413363 rs1340584768 |
209 | T>I | No |
ClinGen gnomAD |
|
|
rs1306269398 CA406413351 |
210 | S>I | No |
ClinGen gnomAD |
|
|
CA406413325 rs1235796716 |
212 | N>S | No |
ClinGen gnomAD |
|
|
CA9522938 rs745728424 |
213 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA9522939 rs142562775 |
213 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406413298 rs1600482264 |
214 | D>A | No |
ClinGen Ensembl |
|
|
rs1371951704 CA406413290 |
214 | D>E | No |
ClinGen gnomAD |
|
|
rs1269758138 CA406413301 |
214 | D>H | No |
ClinGen TOPMed |
|
|
CA406411858 rs772831381 |
218 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762525370 CA9522915 |
218 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs778938225 CA9522913 |
219 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522912 rs778938225 |
219 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776159398 CA9522911 |
220 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1268317588 CA406411819 |
221 | L>V | No |
ClinGen gnomAD |
|
|
CA9522909 rs746870294 |
222 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1612426 rs1339730620 CA406411776 |
223 | N>K | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA406411761 rs1406519147 |
225 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9522906 rs745826525 |
227 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915194514 CA308999161 |
228 | I>M | No |
ClinGen Ensembl |
|
|
rs1455841554 CA406411733 |
230 | N>T | No |
ClinGen gnomAD |
|
|
rs768862390 CA308999157 |
231 | Q>P | No |
ClinGen Ensembl |
|
|
CA9522904 rs756155161 |
232 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420374505 CA406411720 |
232 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9522902 rs781327425 |
233 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406411715 rs781327425 |
233 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308999152 rs935262125 |
233 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA308999148 rs901115877 |
237 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA406411680 rs1197860832 |
238 | S>F | No |
ClinGen TOPMed |
|
|
rs371876198 CA9522897 |
241 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9522896 rs371876198 |
241 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9522894 rs776338844 |
242 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761284283 CA9522895 |
242 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs768333124 CA9522893 |
243 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 244 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369180802 CA9522890 |
245 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs749446018 CA406411631 |
247 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749446018 CA9522889 |
247 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA406411598 rs1326864855 |
251 | W>C | No |
ClinGen gnomAD |
|
|
rs769905016 CA9522885 |
252 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs111424410 CA9522886 |
252 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406411581 rs1170073094 |
254 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs748244458 CA406411579 |
254 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs748244458 CA9522884 |
254 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA308999123 rs868074827 |
255 | K>N | No |
ClinGen Ensembl |
|
|
rs558441098 CA9522883 |
255 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406411569 rs1463182489 |
256 | L>P | No |
ClinGen gnomAD |
|
|
CA308999121 rs991653020 |
256 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755304600 COSM268197 CA9522882 |
258 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9522880 rs375713125 |
259 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9522881 rs747261667 |
259 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs576206235 CA308999111 |
260 | R>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
CA9522879 rs544760714 |
260 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406411544 rs1342719494 |
261 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9522877 rs765728382 |
262 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA406411538 rs1199225952 |
262 | D>V | No |
ClinGen TOPMed |
|
|
rs753333719 CA9522875 |
264 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289570648 CA406411481 |
270 | K>E | No |
ClinGen gnomAD |
|
|
CA9522872 rs775125828 |
270 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs888893141 CA308999096 |
272 | A>V | No |
ClinGen Ensembl |
|
|
CA406411451 rs1167284932 |
274 | K>T | No |
ClinGen gnomAD |
|
|
CA9522870 rs759308282 |
275 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9522869 rs770813972 |
277 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191340867 CA406411427 COSM712302 |
277 | A>P | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9522868 rs770813972 |
277 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308999088 rs567229484 |
278 | L>V | No |
ClinGen 1000Genomes |
|
|
rs1402300576 CA406411379 |
279 | F>L | No |
ClinGen Ensembl |
|
|
CA406411361 rs147742600 |
281 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780479280 CA9522863 |
281 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147742600 CA9522864 |
281 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406411316 rs1302054473 |
283 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1276026441 CA406411286 |
285 | G>A | No |
ClinGen TOPMed |
|
|
CA9522860 rs553772648 |
285 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9522859 rs757654871 |
286 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 286 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9522857 rs763525957 |
287 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522858 rs754399287 |
287 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9522854 rs369485410 |
289 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369485410 CA308999076 |
289 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1238172152 CA406411191 |
290 | Q>H | No |
ClinGen TOPMed |
|
|
rs1600479404 CA406411155 |
292 | M>T | No |
ClinGen Ensembl |
|
|
CA308999070 rs950148768 |
293 | E>K | No |
ClinGen Ensembl |
|
|
CA406411090 rs1600479392 |
296 | V>G | No |
ClinGen Ensembl |
|
|
CA406410208 rs766024656 |
297 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766024656 CA9522831 |
297 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762823067 CA9522830 |
298 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA406410150 rs1312523293 |
300 | P>A | No |
ClinGen gnomAD |
|
|
rs750379006 CA9522828 |
301 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9522827 rs765302960 |
303 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522825 rs775659187 |
304 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs183291224 CA9522824 |
305 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs1280089036 CA406409963 |
308 | A>G | No |
ClinGen TOPMed |
|
|
CA406409972 rs1318151756 |
308 | A>T | No |
ClinGen gnomAD |
|
|
CA9522822 rs191157410 |
309 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774645702 CA308997367 |
311 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406409876 rs771185702 COSM3668412 |
312 | E>* | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9522820 rs771185702 |
312 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 315 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141736119 CA9522819 |
315 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs79712545 CA9522817 |
316 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406409774 rs532215300 |
317 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs532215300 CA9522816 COSM1750996 |
317 | G>S | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs200549785 CA9522812 |
319 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754525303 CA9522813 |
319 | S>T | No |
ClinGen ExAC |
|
|
rs779817281 CA9522811 |
320 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308997341 rs887555513 |
321 | D>A | No |
ClinGen Ensembl |
|
|
rs114127736 CA406409665 CA406409663 |
321 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA308997345 rs769024808 |
321 | D>N | No |
ClinGen Ensembl |
|
|
CA406409656 rs1363798859 |
322 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA406409657 rs1363798859 |
322 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9522808 rs202183144 |
322 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761798011 CA9522807 |
323 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs753817608 CA9522806 |
324 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA9522805 rs144448874 |
325 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 325 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759718409 CA9522804 |
325 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9522802 rs771227158 |
327 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522803 rs771227158 |
327 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 329 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763281827 CA9522801 |
330 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404342573 CA406409436 |
331 | K>N | No |
ClinGen TOPMed |
|
|
rs773517937 CA9522800 |
332 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1301393122 CA406409423 |
332 | Q>P | No |
ClinGen TOPMed |
|
|
CA406409394 rs1388367975 |
334 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 335 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433970853 CA406409322 |
336 | Q>H | No |
ClinGen gnomAD |
|
|
CA406409308 rs749780403 |
337 | Q>* | No |
ClinGen gnomAD |
|
|
CA308997318 rs749780403 |
337 | Q>K | No |
ClinGen gnomAD |
|
|
CA308997314 rs944630254 |
338 | P>L | No |
ClinGen Ensembl |
|
|
rs770179606 CA9522798 |
338 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 340 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308997312 rs753137483 |
340 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs777210732 CA9522796 |
341 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA406409174 rs1271840138 |
343 | R>C | No |
ClinGen gnomAD |
|
|
rs372183342 CA9522795 |
343 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9522793 rs779547564 |
345 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522792 rs149664598 |
347 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367601467 CA9522790 |
351 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406408930 rs1490330466 |
352 | K>E | No |
ClinGen TOPMed |
|
|
rs191402721 CA9522788 |
353 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed |
|
rs1429023457 CA406407629 |
353 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs764158404 CA9522786 COSM347099 |
356 | L>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA308997297 rs932752250 |
359 | E>A | No |
ClinGen Ensembl |
|
|
rs751711796 CA9522784 |
359 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1437534712 CA406407505 |
360 | V>M | No |
ClinGen TOPMed |
|
|
rs200521659 CA9522782 |
361 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406407445 rs1252980678 |
362 | F>L | No |
ClinGen gnomAD |
|
|
CA308997295 rs146023718 |
362 | F>L | No |
ClinGen ESP TOPMed |
|
|
rs201879580 CA9522780 |
363 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522779 rs201879580 |
363 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3823443 CA9522781 rs773430445 |
363 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs142597031 CA9522777 |
366 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs531714669 CA9522776 |
369 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9522774 rs775021801 |
370 | E>D | No |
ClinGen ExAC |
|
|
CA308997292 rs956371435 |
370 | E>G | No |
ClinGen Ensembl |
|
|
rs745458815 CA9522772 |
373 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs771710064 CA9522773 |
373 | E>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1600475592 CA406407166 |
374 | V>G | No |
ClinGen Ensembl |
|
|
rs1336114179 CA406407107 |
377 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9522770 COSM267366 rs138038020 |
378 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA406407097 rs1338888773 |
378 | T>S | No |
ClinGen Ensembl |
|
|
rs1170957431 CA406407081 |
379 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA406407050 rs1459004837 |
380 | G>D | No |
ClinGen gnomAD |
|
|
rs1158801086 CA406407022 |
382 | E>K | No |
ClinGen gnomAD |
|
|
CA308997278 rs1022577465 |
384 | M>L | No |
ClinGen Ensembl |
|
|
rs1284646147 CA406406954 |
385 | E>K | No |
ClinGen gnomAD |
|
|
CA406406909 rs749147799 |
386 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522768 rs749147799 COSM1664000 |
386 | A>V | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1442394186 CA406406887 |
387 | H>D | No |
ClinGen gnomAD |
|
|
CA406406865 rs112133416 |
387 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406406849 rs766382171 |
388 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9522764 rs766382171 |
388 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9522762 rs371543007 |
389 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1568599389 CA406406777 |
390 | E>G | No |
ClinGen Ensembl |
|
|
CA9522761 rs143615549 |
390 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406406786 rs143615549 |
390 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406406748 rs1348244681 |
391 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs762058784 CA9522760 |
392 | G>A | No |
ClinGen ExAC |
|
|
rs141469854 CA406406672 |
393 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9522758 rs141469854 |
393 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9522757 rs148314106 |
394 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs115167023 CA9522755 |
395 | D>G | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs148871208 CA406406549 |
396 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs148871208 CA9522753 |
396 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771693680 CA9522750 |
398 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9522749 rs774115044 |
399 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774115044 CA9522748 |
399 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522744 rs777585850 |
400 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746581511 CA9522745 |
400 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250257320 CA406406355 |
401 | D>H | No |
ClinGen TOPMed |
|
|
rs748063699 CA9522742 |
402 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406406292 rs1450829366 |
403 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA406406261 rs1207673925 |
404 | P>S | No |
ClinGen gnomAD |
|
|
rs1428937575 CA406406193 |
406 | S>P | No |
ClinGen gnomAD |
|
|
CA9522740 rs370604505 |
407 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370604505 CA9522739 |
407 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1325187 CA9522736 rs186156470 |
410 | P>L | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9522737 rs186156470 |
410 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1417403434 CA406406063 |
410 | P>T | No |
ClinGen gnomAD |
|
|
rs761002062 CA9522734 |
411 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 412 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9522731 rs200271765 |
412 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9522732 rs768178245 |
412 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522729 rs138579958 |
413 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9522728 rs138579958 |
413 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772756653 CA9522727 |
414 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs45456391 CA9522725 |
417 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9522724 rs781080000 |
418 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950299024 CA406405851 |
419 | S>R | No |
ClinGen TOPMed |
|
|
CA308997217 rs768527879 |
420 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9522723 rs768527879 |
420 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA406405838 rs1187445150 |
420 | R>H | No |
ClinGen gnomAD |
|
|
CA406405839 rs1187445150 |
420 | R>L | No |
ClinGen gnomAD |
|
|
rs778895705 CA9522721 |
423 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA406405777 rs1600475379 |
423 | A>V | No |
ClinGen Ensembl |
|
|
CA406405769 rs1199255604 |
424 | N>D | No |
ClinGen gnomAD |
|
|
CA9522720 rs757295240 CA406405757 |
424 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406405718 rs1600475367 |
426 | Y>S | No |
ClinGen Ensembl |
|
|
CA9522718 rs777922860 |
428 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9522717 rs756469767 |
429 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 429 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760080479 CA9522715 |
433 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760080479 CA9522714 |
433 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752118848 CA9522713 |
433 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs765858852 CA9522712 |
434 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406405560 rs765858852 |
434 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478813495 CA406405550 |
435 | G>C | No |
ClinGen TOPMed |
|
|
rs1430934705 CA406405537 |
436 | L>R | No |
ClinGen gnomAD |
|
|
CA406405525 rs1194513584 |
437 | P>R | No |
ClinGen TOPMed |
|
|
CA406405530 COSM998317 rs1370502414 |
437 | P>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs772916169 CA9522710 |
438 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA406405520 rs1337662846 |
438 | W>R | No |
ClinGen gnomAD |
|
|
CA9522707 rs373915113 |
439 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9522706 rs141830079 |
439 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373915113 CA9522709 |
439 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141830079 CA406405498 |
439 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9522708 rs373915113 |
439 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775344131 CA9522704 |
440 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199908592 COSM1394694 CA9522705 |
440 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9522702 rs749365740 |
442 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522703 rs749365740 |
442 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522700 rs756241163 |
444 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs558606677 CA9522699 |
445 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538384690 CA9522697 |
446 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9522698 rs376586504 |
446 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9522693 rs749953529 |
448 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA9522694 rs757898392 |
448 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA406405381 rs757898392 |
448 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA308997170 rs764831392 |
450 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522692 rs764831392 |
450 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs45438200 CA9522691 |
451 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs145815212 CA9522689 |
452 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs778599931 CA9522688 |
453 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308997159 rs893107445 |
453 | R>Q | No |
ClinGen TOPMed |
|
|
CA9522685 rs771952343 |
456 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA308997157 rs1054488241 |
456 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9522686 rs775464232 |
456 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs201978285 CA308997149 |
460 | T>R | No |
ClinGen Ensembl |
|
|
CA406405193 rs373067748 |
461 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373067748 CA9522684 |
461 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370328882 CA9522683 |
465 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406405120 rs1484232311 |
466 | P>S | No |
ClinGen gnomAD |
|
|
rs1045794399 CA308997137 |
467 | V>A | No |
ClinGen gnomAD |
|
|
rs149814820 CA9522680 |
468 | V>I | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368262611 CA308997132 |
471 | P>L | No |
ClinGen Ensembl |
|
|
rs1193117194 CA406405071 |
471 | P>S | No |
ClinGen TOPMed |
|
|
COSM566809 rs76423334 CA9522679 |
474 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9522677 rs780592868 |
475 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9522675 rs764590296 |
477 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764590296 CA9522674 |
477 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600475202 CA406405027 |
478 | A>D | No |
ClinGen Ensembl |
|
|
rs1302859540 CA406405018 |
479 | N>K | No |
ClinGen gnomAD |
|
|
CA406405016 rs1451289935 |
480 | Y>N | No |
ClinGen gnomAD |
|
|
rs1600475190 CA406405013 |
480 | Y>S | No |
ClinGen Ensembl |
|
|
COSM712308 CA308997113 rs139803225 |
482 | R>P | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA |
|
rs763774926 CA9522671 |
482 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs752385323 CA9522669 |
485 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs567908602 CA9522670 |
485 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9522668 rs767376694 |
486 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308997103 rs767376694 |
486 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759326480 CA9522667 |
487 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM190964 rs774360093 CA9522666 |
487 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1442880239 CA406404972 |
488 | I>V | No |
ClinGen gnomAD |
|
|
CA406404961 rs1250032237 |
489 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1259321714 CA406404954 |
491 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA406404951 rs1355674538 |
491 | A>V | No |
ClinGen TOPMed |
|
|
CA406404947 rs1322778341 |
492 | T>A | No |
ClinGen gnomAD |
|
|
CA9522663 rs769052549 COSM1525648 |
492 | T>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9522662 rs769052549 |
492 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406404934 rs1568599075 |
494 | V>F | No |
ClinGen Ensembl |
|
|
CA406404931 rs1600475125 |
494 | V>G | No |
ClinGen Ensembl |
|
|
rs369615102 CA308997090 |
495 | S>N | No |
ClinGen ESP gnomAD |
|
|
CA9522660 rs747281514 |
496 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 498 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772496044 CA9522658 |
499 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 499 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162826166 CA406404864 |
504 | E>G | No |
ClinGen gnomAD |
|
|
rs561137010 CA308997080 |
505 | E>K | No |
ClinGen Ensembl |
|
|
CA406404842 rs1247443150 |
507 | G>D | No |
ClinGen TOPMed |
|
|
CA9522656 rs779461828 |
507 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9522655 rs756728011 |
508 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9522652 rs755723894 |
509 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs777286695 CA9522653 |
509 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA406404827 rs1489026799 |
510 | E>K | No |
ClinGen gnomAD |
|
|
rs1265278746 CA406404822 |
510 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA308997068 rs1028847309 |
511 | E>K | No |
ClinGen gnomAD |
|
|
rs759434603 CA9522649 |
513 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759434603 CA9522648 |
513 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522647 rs751449903 |
514 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs61749001 CA9522645 |
515 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766462573 CA9522646 |
515 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA308997053 rs61749001 |
515 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9522643 rs768892885 |
516 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760746284 CA9522641 |
517 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406404785 rs1169228931 |
517 | R>H | No |
ClinGen gnomAD |
|
|
CA406404762 rs746281353 |
520 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs772316278 CA9522638 |
520 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs779368622 CA406404760 |
521 | E>* | No |
ClinGen ExAC gnomAD |
|
|
COSM1712509 CA9522636 rs779368622 |
521 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs771377533 CA9522635 |
523 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA9522633 rs144552615 COSM385885 |
524 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs144552615 CA9522632 |
524 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9522634 rs749825484 |
524 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230045996 CA406404724 |
526 | F>S | No |
ClinGen TOPMed |
|
|
rs201903476 CA9522629 |
527 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9522627 rs766303296 |
527 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522628 rs201903476 |
527 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758375635 CA9522626 |
529 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1196948357 CA406404705 |
529 | I>S | No |
ClinGen TOPMed |
|
|
CA406404698 rs1282335798 |
530 | P>L | No |
ClinGen gnomAD |
|
|
rs149295201 CA9522625 |
531 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9522624 rs563015525 |
532 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs139826079 CA9522622 |
533 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9522623 rs760872135 |
533 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767828041 CA9522621 |
534 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA406404670 rs1428863302 COSM1394692 |
536 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs774657723 CA9522619 |
537 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA406404658 rs372117864 |
538 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749738592 CA9522618 |
538 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA9522616 rs372117864 |
538 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749738592 CA9522617 |
538 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA308997009 rs906753894 |
539 | A>V | No |
ClinGen TOPMed |
|
|
CA9522615 rs747736076 |
540 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9522614 rs747736076 |
540 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs780688498 CA9522613 |
541 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA406404640 rs1201690819 |
541 | W>R | No |
ClinGen gnomAD |
|
|
CA308997004 rs1047104933 |
542 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs150637164 CA9522612 |
543 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746693894 CA9522611 |
545 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 546 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9522609 rs529295373 |
550 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529295373 CA9522610 |
550 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9522607 rs765257237 |
551 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs765257237 CA406404513 |
551 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9522587 rs367835725 |
553 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA308996532 rs1013314608 |
553 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA406403095 rs1370135651 |
554 | C>R | No |
ClinGen TOPMed |
|
|
rs753723367 CA9522586 |
555 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1232074080 CA406403070 |
555 | T>I | No |
ClinGen TOPMed |
|
|
rs753723367 CA406403079 |
555 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs781274307 CA9522584 |
556 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406403058 rs1568598255 |
556 | W>S | No |
ClinGen Ensembl |
|
|
CA9522583 rs138318118 |
557 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs539948091 CA308996530 |
561 | Q>H | No |
ClinGen 1000Genomes |
|
|
CA406402965 rs1428946215 |
562 | K>N | No |
ClinGen gnomAD |
|
|
CA406402957 rs1333163718 |
563 | T>I | No |
ClinGen gnomAD |
|
|
rs766629769 CA9522581 |
565 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419669888 CA406402910 |
566 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA406402916 rs1431123158 |
566 | E>V | No |
ClinGen gnomAD |
|
|
CA406402819 rs1467502949 |
572 | E>D | No |
ClinGen TOPMed |
|
|
rs765554363 CA9522577 |
572 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs765554363 CA406402831 |
572 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1490146558 CA406402817 |
573 | E>K | No |
ClinGen gnomAD |
|
|
rs368109392 CA9522575 |
576 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762317657 CA9522576 |
576 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs368109392 CA308996523 |
576 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768203407 CA9522574 |
577 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA308996519 rs921494473 |
579 | G>R | No |
ClinGen TOPMed |
|
|
CA9522573 rs760298875 |
580 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1284269540 CA406402681 |
582 | E>K | No |
ClinGen gnomAD |
|
|
CA9522569 rs557286942 |
585 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770644325 CA9522568 |
586 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1310362589 CA406402617 |
586 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9522567 rs749235419 |
588 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406402589 rs1354605679 |
588 | G>S | No |
ClinGen gnomAD |
|
|
rs201992328 CA9522566 |
590 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201992328 CA9522564 |
590 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM328750 rs201992328 CA9522565 |
590 | P>R | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9522560 rs45565440 |
593 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406402508 rs1427004707 |
595 | L>F | No |
ClinGen gnomAD |
|
|
CA406402458 rs1184220198 |
598 | D>E | No |
ClinGen gnomAD |
|
|
CA9522557 rs754368616 |
599 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9522559 rs765584357 |
599 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9522558 rs754368616 |
599 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9522539 rs764560665 |
602 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 602 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753279973 CA9522537 |
605 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759009131 CA9522535 |
608 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs192997871 CA9522534 |
609 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9522533 rs368970645 COSM190962 |
610 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs762679225 CA9522532 |
610 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9522531 rs199759812 |
611 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748027158 CA9522529 |
613 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1392444298 CA406401431 |
615 | L>P | No |
ClinGen TOPMed |
|
|
rs1426543261 CA406401416 |
616 | C>F | No |
ClinGen gnomAD |
|
|
CA406401420 rs1426543261 |
616 | C>Y | No |
ClinGen gnomAD |
|
|
rs372373552 CA9522527 |
617 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9522524 rs779066587 |
621 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1187421522 CA406401331 |
622 | A>T | No |
ClinGen gnomAD |
|
|
CA9522520 COSM566811 rs189983010 |
623 | V>A | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs189983010 CA308995754 |
623 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA9522521 rs749557469 |
623 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244613321 CA406401296 |
624 | V>A | No |
ClinGen gnomAD |
|
|
rs1244613321 CA406401294 |
624 | V>G | No |
ClinGen gnomAD |
|
|
CA9522519 rs143367972 |
625 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375509570 CA9522518 |
625 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9522516 rs181208814 |
627 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750975123 CA308995733 |
628 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750975123 CA9522515 |
628 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 629 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762469971 CA9522513 |
631 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| rs765702412 | 632 | A>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200210042 CA9522512 |
632 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200210042 CA9522511 |
632 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9522509 rs45486500 |
632 | A>V | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs1422846137 CA406401159 |
633 | Y>C | No |
ClinGen gnomAD |
|
|
rs1356576233 CA406401145 |
634 | A>D | No |
ClinGen TOPMed |
|
|
rs761632612 CA9522507 |
637 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA9522488 rs760820793 |
640 | K>RV* | No |
ClinGen ExAC |
|
|
CA406455295 rs1421454030 |
641 | F>L | No |
ClinGen gnomAD |
|
|
COSM3707226 rs764932320 CA9522487 |
641 | F>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA406455298 rs764932320 |
641 | F>Y | No |
ClinGen ExAC |
|
|
CA9522486 rs761472615 |
642 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA406455279 rs753566555 |
643 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374276879 CA9522484 |
646 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201661072 CA309032416 |
646 | I>N | No |
ClinGen 1000Genomes |
|
|
rs374276879 CA9522483 |
646 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9522480 rs763191576 |
647 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs770885407 CA9522481 |
647 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413510869 CA406455241 |
648 | W>* | No |
ClinGen gnomAD |
|
|
rs1282473469 CA406455248 |
648 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1221600111 CA406455237 |
649 | G>C | No |
ClinGen gnomAD |
|
|
rs200691935 COSM1740504 CA9522478 |
651 | K>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1307712660 CA406455216 |
651 | K>N | No |
ClinGen gnomAD |
|
|
rs748384204 CA9522477 |
652 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1600469870 CA406455214 |
652 | Y>D | No |
ClinGen Ensembl |
|
|
CA309032361 rs908066449 |
653 | S>I | No |
ClinGen Ensembl |
|
|
rs781369953 CA9522475 |
654 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA406455189 rs145529811 |
655 | E>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9522473 rs145529811 |
655 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs372396438 CA9522472 |
655 | E>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA309032333 rs984102186 |
657 | F>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 658 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs550174347 CA9522471 |
659 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406455150 rs1181839803 |
660 | A>T | No |
ClinGen gnomAD |
|
|
CA9522468 rs577242494 COSM998315 |
662 | P>S | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1461537761 CA406455126 |
663 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1373054027 CA406455121 |
663 | A>V | No |
ClinGen gnomAD |
|
|
rs756866590 CA406455117 |
664 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406455116 rs1352706644 |
664 | P>L | No |
ClinGen gnomAD |
|
|
rs756866590 CA9522466 |
664 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 665 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753513198 CA406455111 |
665 | I>L | No |
ClinGen ExAC TOPMed |
|
|
rs1261266947 CA406455104 |
665 | I>M | No |
ClinGen gnomAD |
|
|
rs753513198 CA9522465 |
665 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA9522464 rs763776139 |
666 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334030911 CA406455082 |
668 | E>G | No |
ClinGen gnomAD |
|
|
rs866302058 CA309032245 |
669 | Y>* | No |
ClinGen Ensembl |
|
|
CA9522463 rs760560132 |
670 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs113672692 CA9522462 |
671 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522461 rs767548864 |
671 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 672 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375855559 CA9522460 |
674 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1600469770 CA406455015 |
676 | M>T | No |
ClinGen Ensembl |
|
|
rs1384296339 CA406455018 |
676 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs974347290 CA309032209 |
678 | M>I | No |
ClinGen Ensembl |
|
|
rs1460505549 CA406454981 |
680 | D>A | No |
ClinGen TOPMed |
|
|
rs765437101 CA406454975 |
681 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA9522458 rs765437101 |
681 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9522459 rs773359095 |
681 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 683 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406454936 rs1452330170 |
687 | Q>K | No |
ClinGen gnomAD |
|
|
rs1600469753 CA406454933 |
687 | Q>R | No |
ClinGen Ensembl |
|
|
rs1323477015 CA406454929 |
688 | A>T | No |
ClinGen TOPMed |
|
|
CA406454910 rs1396301427 |
691 | A>T | No |
ClinGen TOPMed |
|
|
CA406454898 rs1306025437 |
693 | Q>* | No |
ClinGen TOPMed |
|
|
rs201155665 CA9522457 |
695 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776957336 CA9522455 |
698 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA406454856 rs1280977736 |
699 | A>D | No |
ClinGen gnomAD |
|
|
rs191617125 CA309032150 |
700 | T>R | No |
ClinGen Ensembl |
|
|
rs61730714 CA9522449 |
701 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 701 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140872788 CA9522444 |
702 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746408485 CA9522442 |
703 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs937223405 CA309032102 |
703 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA406454834 rs937223405 |
703 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1351431559 CA406454826 |
704 | E>G | No |
ClinGen gnomAD |
|
|
rs200690733 CA309032095 |
704 | E>K | No |
ClinGen Ensembl |
|
|
rs777549051 CA9522434 |
705 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA309032075 rs557359374 |
705 | E>G | No |
ClinGen 1000Genomes |
|
|
rs372105700 CA9522439 |
705 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9522440 rs372105700 |
705 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs62639328 CA406454816 |
706 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs62639328 CA406454817 |
706 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs62639328 CA9522432 |
706 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 707 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs187895721 CA9522425 |
707 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 707 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318157847 CA633482057 |
708 | E>* | No |
ClinGen gnomAD |
|
|
rs1183130472 CA406454803 |
708 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA309032019 rs1055061527 |
709 | E>Q | No |
ClinGen Ensembl |
|
|
CA406454779 rs1568596033 |
711 | E>G | No |
ClinGen Ensembl |
|
|
CA9522421 rs754924366 |
711 | E>Q | No |
ClinGen ExAC |
|
|
rs1568596022 CA406454771 |
712 | G>D | No |
ClinGen Ensembl |
|
|
rs555414971 CA9522410 |
713 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA309031935 rs555414971 |
713 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA9522409 rs762022460 |
714 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs186719823 CA309031897 |
715 | T>A | No |
ClinGen Ensembl |
|
|
CA9522408 rs776710136 |
715 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9522407 COSM3692886 rs764430735 |
716 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA406454743 rs1373371079 |
717 | D>Y | No |
ClinGen gnomAD |
|
|
CA9522405 rs760815692 |
718 | D>G | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9H0K4
No regional properties for Q9H0K4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9H0K4 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| axoneme | The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| radial spoke | Protein complex that links the outer microtubule doublet of the ciliary or flagellum axoneme with the sheath that surrounds the central pair of microtubules. Composed of a stalk that attaches to each doublet microtubule and a globular structure (spoke head) that projects toward the central pair of microtubules. |
| sperm flagellum | A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| axoneme assembly | The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| cilium movement | The directed, self-propelled movement of a cilium. |
| cilium movement involved in cell motility | Movement of cilia mediated by motor proteins that contributes to the movement of a cell. |
| manchette disassembly | The disaggregation of a manchette into its constituent components. |
| motile cilium assembly | The aggregation, arrangement and bonding together of a set of components to form a motile cilium. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5TD94 | RSPH4A | Radial spoke head protein 4 homolog A | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGDLPPYPER | PAQQPPGRRT | SQASQRRHSR | DQAQALAADP | EERQQIPPDA | QRNAPGWSQR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GSLSQQENLL | MPQVFQAEEA | RLGGMEYPSV | NTGFPSEFQP | QPYSDESRMQ | VAELTTSLML |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QRLQQGQSSL | FQQLDPTFQE | PPVNPLGQFN | LYQTDQFSEG | AQHGPYIRDD | PALQFLPSEL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GFPHYSAQVP | EPEPLELAVQ | NAKAYLLQTS | INCDLSLYEH | LVNLLTKILN | QRPEDPLSVL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ESLNRTTQWE | WFHPKLDTLR | DDPEMQPTYK | MAEKQKALFT | RSGGGTEGEQ | EMEEEVGETP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VPNIMETAFY | FEQAGVGLSS | DESFRIFLAM | KQLVEQQPIH | TCRFWGKILG | IKRSYLVAEV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EFREGEEEAE | EEEVEEMTEG | GEVMEAHGEE | EGEEDEEKAV | DIVPKSVWKP | PPVIPKEESR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SGANKYLYFV | CNEPGLPWTR | LPHVTPAQIV | NARKIKKFFT | GYLDTPVVSY | PPFPGNEANY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LRAQIARISA | ATQVSPLGFY | QFSEEEGDEE | EEGGAGRDSY | EENPDFEGIP | VLELVDSMAN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| WVHHTQHILP | QGRCTWVNPL | QKTEEEEDLG | EEEEKADEGP | EEVEQEVGPP | LLTPLSEDAE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IMHLAPWTTR | LSCSLCPQYS | VAVVRSNLWP | GAYAYASGKK | FENIYIGWGH | KYSPESFNPA |
| 670 | 680 | 690 | 700 | 710 | |
| LPAPIQQEYP | SGPEIMEMSD | PTVEEEQALK | AAQEQALGAT | EEEEEGEEEE | EGEETDD |