Q14185
Gene name |
DOCK1 |
Protein name |
Dedicator of cytokinesis protein 1 |
Names |
180 kDa protein downstream of CRK, DOCK180 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1793 |
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

2 structures for Q14185
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
3L4C | X-ray | 237 A | A/B | 422-619 | PDB |
AF-Q14185-F1 | Predicted | AlphaFoldDB |
1384 variants for Q14185
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs758997336 RCV000624248 |
148 | K>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
rs767858333 RCV000623431 |
664 | E>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
CA215753437 rs1036873070 |
2 | T>M | No |
ClinGen TOPMed gnomAD |
|
CA378903891 rs867484120 |
3 | R>C | No |
ClinGen gnomAD |
|
CA215753438 rs867484120 |
3 | R>S | No |
ClinGen gnomAD |
|
rs1187500633 CA378903898 |
4 | W>S | No |
ClinGen TOPMed |
|
rs1359555616 CA378903912 |
6 | P>S | No |
ClinGen gnomAD |
|
CA5741783 rs768435458 |
9 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5741786 rs761671652 |
12 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1317871657 CA378904237 |
17 | F>I | No |
ClinGen TOPMed |
|
rs764444370 CA5741814 |
20 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA5741816 rs762217323 |
23 | R>G | No |
ClinGen ExAC gnomAD |
|
CA378904287 rs1161315852 |
23 | R>S | No |
ClinGen gnomAD |
|
TCGA novel | 23 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 24 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378904297 rs371087791 |
25 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5741817 rs371087791 |
25 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs946779078 CA215759880 |
29 | S>T | No |
ClinGen TOPMed |
|
CA215759881 rs1043592156 CA215759882 |
31 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA378904340 rs1399680843 |
32 | I>V | No |
ClinGen gnomAD |
|
rs779548919 CA5741820 |
33 | G>R | No |
ClinGen ExAC gnomAD |
|
rs377320265 CA5741821 |
35 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
CA215759883 rs937833335 |
35 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA5741822 rs754574678 |
37 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs771891784 CA378904410 |
42 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5741824 rs747836571 |
42 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs553053974 CA5741842 |
45 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA378904451 rs1192719948 |
46 | Y>C | No |
ClinGen gnomAD |
|
CA215760685 rs1054479346 |
47 | R>Q | No |
ClinGen TOPMed |
|
rs1260759480 CA378904466 |
49 | Y>H | No |
ClinGen TOPMed gnomAD |
|
rs757996239 CA5741843 |
50 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5741845 rs746815750 |
52 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs757172365 CA5741846 |
52 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
CA5741848 rs571267306 |
53 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1377543831 CA378904492 |
53 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs745842428 CA5741849 |
54 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs745842428 CA378904498 |
54 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378904497 rs745842428 |
54 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774630796 CA5741851 |
56 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378904511 rs1213564881 |
56 | K>R | No |
ClinGen TOPMed |
|
CA378904538 rs1467522499 |
58 | G>D | No |
ClinGen Ensembl |
|
CA5741879 rs779095586 |
59 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5741878 rs779095586 |
59 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772241085 CA5741880 |
61 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1025603420 CA215761174 |
62 | A>T | No |
ClinGen TOPMed |
|
CA5741881 rs773273898 |
67 | L>P | No |
ClinGen ExAC gnomAD |
|
CA5741883 rs771267415 |
69 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5741884 rs776990526 |
70 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5741887 rs775018138 |
71 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199845959 CA5741886 |
71 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA215761176 rs933923507 |
72 | V>I | No |
ClinGen TOPMed |
|
TCGA novel | 74 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5741899 rs373898575 |
77 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA378904693 rs1216288822 |
79 | E>D | No |
ClinGen TOPMed |
|
CA378904707 rs1317290044 |
81 | V>A | No |
ClinGen gnomAD |
|
rs377023959 CA5741902 |
83 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA215761895 rs377023959 |
83 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1309261176 CA378904717 |
83 | P>S | No |
ClinGen gnomAD |
|
rs1484796274 CA378904719 |
84 | G>S | No |
ClinGen gnomAD |
|
rs979119696 CA215761897 |
87 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1421070388 CA378904746 |
88 | L>F | No |
ClinGen gnomAD |
|
rs763584443 CA5741905 |
89 | I>M | No |
ClinGen ExAC gnomAD |
|
rs1436243796 CA378904751 |
89 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs1172446532 CA378904775 |
92 | V>A | No |
ClinGen gnomAD |
|
rs749011141 CA215761898 |
94 | T>A | No |
ClinGen gnomAD |
|
rs773928262 CA5741907 |
94 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770313952 CA5741909 |
95 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378904800 rs1271816524 |
97 | R>* | No |
ClinGen gnomAD |
|
rs1364200071 CA378904801 |
97 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs750147964 CA5741910 |
99 | W>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 105 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5741914 rs147989604 |
108 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5741913 rs147989604 |
108 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1362910752 CA378694183 |
110 | D>G | No |
ClinGen gnomAD |
|
TCGA novel | 110 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1468279043 CA378694187 |
111 | N>H | No |
ClinGen TOPMed gnomAD |
|
CA378694190 rs1157980910 |
111 | N>T | No |
ClinGen TOPMed |
|
rs772994764 CA5741929 |
114 | M>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel CA5741930 rs760460729 |
115 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
rs766026803 CA5741931 |
116 | R>* | No |
ClinGen ExAC gnomAD |
|
rs193160639 CA5741932 |
116 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1443265553 CA378694229 |
117 | S>G | No |
ClinGen gnomAD |
|
CA5741933 rs759349034 |
118 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA215381985 rs973298505 |
118 | V>M | No |
ClinGen TOPMed |
|
rs765245181 CA5741934 |
119 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5741936 rs757300109 |
119 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765245181 CA5741935 |
119 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378694251 rs1330163197 |
121 | M>V | No |
ClinGen gnomAD |
|
rs750631429 CA5741938 |
123 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1271767610 CA378694282 |
125 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA5741939 rs771234802 |
126 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 128 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1213815239 CA378694302 |
128 | W>R | No |
ClinGen gnomAD |
|
CA5741940 rs780941985 |
129 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749695334 CA5741941 |
129 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA5741942 rs374693322 |
130 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1233277486 CA378694320 |
131 | Q>* | No |
ClinGen gnomAD |
|
CA5741943 rs779529803 |
134 | S>P | No |
ClinGen ExAC gnomAD |
|
rs75555086 CA215382057 |
143 | K>R | No |
ClinGen Ensembl |
|
rs748731456 CA5741944 |
144 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs576434465 CA5741946 |
147 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA378694432 rs1565037687 |
148 | K>E | No |
ClinGen Ensembl |
|
CA378694437 rs1389891826 |
148 | K>N | No |
ClinGen gnomAD |
|
rs772859229 CA5741947 |
151 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA5741948 rs746572428 |
152 | K>R | No |
ClinGen ExAC gnomAD |
|
rs770644938 CA5741949 |
153 | I>T | No |
ClinGen ExAC gnomAD |
|
rs145105617 CA5741950 |
155 | Y>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs759356702 CA5741951 |
156 | G>R | No |
ClinGen ExAC gnomAD |
|
rs764984706 CA5741952 |
156 | G>V | No |
ClinGen ExAC gnomAD |
|
CA215386709 rs34385401 |
159 | I>V | No |
ClinGen Ensembl |
|
CA215386710 rs902631783 |
160 | L>I | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 160 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5741980 rs754076353 |
161 | D>G | No |
ClinGen ExAC gnomAD |
|
CA5741982 rs765627154 |
163 | D>E | No |
ClinGen ExAC gnomAD |
|
rs201203523 CA5741981 |
163 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5741984 rs758923428 |
165 | V>L | No |
ClinGen ExAC gnomAD |
|
rs752049755 CA5741986 |
167 | R>G | No |
ClinGen ExAC gnomAD |
|
CA378695336 rs1231667593 |
167 | R>T | No |
ClinGen gnomAD |
|
rs756789676 CA5741987 |
168 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1486840733 CA378695351 |
169 | E>D | No |
ClinGen gnomAD |
|
rs769441289 CA5741990 |
169 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs745471375 CA5741989 |
169 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA5741991 rs779785531 |
170 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378695375 rs1468050372 |
173 | I>V | No |
ClinGen gnomAD |
|
rs895703029 CA215386765 |
177 | E>G | No |
ClinGen TOPMed |
|
rs1014138360 CA215386772 |
179 | T>A | No |
ClinGen TOPMed |
|
CA5741994 rs774339613 |
179 | T>I | No |
ClinGen ExAC gnomAD |
|
rs770984148 CA5741996 |
181 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5741998 rs759788379 |
183 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5742000 TCGA novel rs765575115 |
183 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
rs1367828851 CA378695480 |
188 | H>N | No |
ClinGen TOPMed |
|
CA5742002 rs764623951 |
188 | H>R | No |
ClinGen ExAC gnomAD |
|
rs752097388 CA5742003 |
189 | E>K | No |
ClinGen ExAC gnomAD |
|
CA378695495 rs1367951186 |
190 | I>V | No |
ClinGen gnomAD |
|
CA5742004 rs757722252 |
196 | E>A | No |
ClinGen ExAC gnomAD |
|
rs775644781 CA215386815 |
196 | E>K | No |
ClinGen TOPMed |
|
CA378695535 rs775644781 |
196 | E>Q | No |
ClinGen TOPMed |
|
CA378695542 rs1318462259 |
197 | E>Q | No |
ClinGen gnomAD |
|
rs780686971 CA5742005 |
198 | R>M | No |
ClinGen ExAC gnomAD |
|
rs779660796 CA5742008 |
200 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs749004671 CA5742009 |
201 | E>K | No |
ClinGen ExAC gnomAD |
|
rs540730500 CA5742010 |
201 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 202 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378695579 rs1176770110 |
202 | E>Q | No |
ClinGen gnomAD |
|
CA378695586 rs1591580246 |
203 | K>E | No |
ClinGen Ensembl |
|
rs1030549055 CA215388389 |
205 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA5742038 rs777538072 |
205 | Q>L | No |
ClinGen ExAC gnomAD |
|
rs1331938155 CA378695638 |
208 | N>S | No |
ClinGen TOPMed |
|
rs747008222 CA5742039 |
209 | I>T | No |
ClinGen ExAC gnomAD |
|
rs1413608392 CA378695652 |
210 | D>G | No |
ClinGen TOPMed |
|
CA5742040 rs769983959 |
211 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378695663 rs1174993446 |
212 | N>D | No |
ClinGen TOPMed |
|
CA378695669 rs1312061447 |
212 | N>K | No |
ClinGen gnomAD |
|
CA5742041 rs775728846 |
213 | R>K | No |
ClinGen ExAC gnomAD |
|
rs749458340 CA5742042 |
214 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749458340 CA378695676 |
214 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5742043 rs768792329 |
215 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378695686 rs768792329 |
215 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs940598949 CA215388458 |
216 | K>E | No |
ClinGen TOPMed |
|
CA378695723 rs1414230034 |
221 | P>H | No |
ClinGen gnomAD |
|
rs564724729 CA5742046 |
221 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA378695740 rs1280071759 |
224 | A>D | No |
ClinGen gnomAD |
|
CA378695742 rs1280071759 |
224 | A>V | No |
ClinGen gnomAD |
|
CA5742048 rs761182932 |
228 | N>K | No |
ClinGen ExAC gnomAD |
|
CA378695768 rs1484867367 |
228 | N>S | No |
ClinGen gnomAD |
|
CA215388488 rs764826742 |
229 | L>F | No |
ClinGen Ensembl |
|
TCGA novel | 231 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 244 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1449699349 CA378695877 |
244 | M>L | No |
ClinGen gnomAD |
|
CA378695885 rs1172588978 |
245 | S>A | No |
ClinGen gnomAD |
|
rs752430840 CA5742053 |
247 | Y>D | No |
ClinGen ExAC gnomAD |
|
rs758095868 CA5742057 |
249 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758120817 CA215388544 |
249 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758120817 CA5742056 |
249 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378695937 rs1303011286 |
253 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs140799120 CA5742060 |
255 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA378695990 CA5742080 rs370347429 |
258 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1468453242 CA378695995 |
259 | Y>C | No |
ClinGen gnomAD |
|
rs765924730 CA5742081 |
262 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748248819 CA5742082 |
262 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs748248819 CA378696013 |
262 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 262 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378696030 rs778059635 |
265 | S>C | No |
ClinGen ExAC gnomAD |
|
rs778059635 CA5742084 |
265 | S>G | No |
ClinGen ExAC gnomAD |
|
CA5742088 CA378696077 rs777117151 |
272 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373741100 CA378696105 |
276 | H>N | No |
ClinGen ESP ExAC gnomAD |
|
CA378696108 rs1420239654 |
276 | H>R | No |
ClinGen TOPMed |
|
CA5742089 rs373741100 |
276 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
CA378696117 rs1591591284 |
277 | N>I | No |
ClinGen Ensembl |
|
TCGA novel | 278 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1591591295 CA378696122 |
278 | L>W | No |
ClinGen Ensembl |
|
CA378696127 rs769129811 |
279 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5742090 rs769129811 |
279 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378696131 rs1357802190 |
280 | A>T | No |
ClinGen gnomAD |
|
rs371112922 CA215389851 |
281 | V>M | No |
ClinGen ESP gnomAD |
|
rs761618116 CA5742112 |
284 | D>G | No |
ClinGen ExAC gnomAD |
|
CA378696214 rs1278248565 |
284 | D>N | No |
ClinGen TOPMed |
|
rs773087863 CA5742114 |
286 | G>A | No |
ClinGen ExAC gnomAD |
|
rs1447893528 CA378696243 |
286 | G>R | No |
ClinGen gnomAD |
|
TCGA novel | 292 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378696329 rs1235056841 |
292 | R>K | No |
ClinGen TOPMed |
|
CA378696344 rs1405054529 |
293 | E>G | No |
ClinGen gnomAD |
|
rs187171084 CA215390659 |
293 | E>K | No |
ClinGen 1000Genomes |
|
CA5742116 rs141906544 |
297 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs753758508 CA5742117 |
299 | C>G | No |
ClinGen ExAC gnomAD |
|
CA215390682 rs906422235 |
303 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA5742118 rs758467730 |
303 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5742121 rs140885933 |
304 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs374946985 CA5742122 |
306 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs746267114 CA5742123 |
306 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
rs756484607 CA5742124 |
307 | M>V | No |
ClinGen ExAC |
|
CA378696562 rs1363567975 |
310 | R>K | No |
ClinGen TOPMed |
|
CA378696585 rs1248951294 |
312 | N>D | No |
ClinGen gnomAD |
|
CA378696592 rs1453982412 |
312 | N>S | No |
ClinGen gnomAD |
|
CA378696611 rs1467028318 |
313 | N>K | No |
ClinGen TOPMed gnomAD |
|
rs200363456 CA5742127 |
313 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1591594258 CA378696659 |
317 | L>P | No |
ClinGen Ensembl |
|
rs768270400 CA5742128 |
319 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378696697 rs1264838643 |
321 | L>M | No |
ClinGen gnomAD |
|
CA5742131 rs771775279 |
322 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA5742132 rs772785460 |
323 | R>* | No |
ClinGen ExAC gnomAD |
|
rs772785460 CA5742133 |
323 | R>G | No |
ClinGen ExAC gnomAD |
|
CA5742134 rs563537294 |
323 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
rs776616886 CA5742135 |
329 | V>M | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 331 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1289100385 CA378696908 |
332 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1219429703 CA378696920 |
334 | D>N | No |
ClinGen gnomAD |
|
CA378696929 rs1247536525 |
335 | I>L | No |
ClinGen TOPMed |
|
rs746697217 CA5742153 |
335 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378696946 rs1204972110 |
337 | N>I | No |
ClinGen gnomAD |
|
CA378696945 rs1204972110 |
337 | N>S | No |
ClinGen gnomAD |
|
CA5742155 rs556342533 |
341 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1473863313 CA378696998 |
344 | D>E | No |
ClinGen gnomAD |
|
rs1412472477 CA378697031 |
348 | F>L | No |
ClinGen gnomAD |
|
rs1421595320 CA378697033 |
349 | I>F | No |
ClinGen gnomAD |
|
CA378697047 rs1166254775 |
351 | F>V | No |
ClinGen gnomAD |
|
CA215399335 rs560821920 |
352 | Q>K | No |
ClinGen Ensembl |
|
rs1350178554 CA378697060 |
353 | P>S | No |
ClinGen gnomAD |
|
CA378697239 rs1591641610 |
354 | V>G | No |
ClinGen Ensembl |
|
CA378697233 rs1244790249 |
354 | V>L | No |
ClinGen gnomAD |
|
CA378697231 rs1244790249 |
354 | V>M | No |
ClinGen gnomAD |
|
CA378697270 rs1478917155 |
357 | E>* | No |
ClinGen gnomAD |
|
rs746080157 CA215402324 |
357 | E>D | No |
ClinGen gnomAD |
|
CA5742198 rs200993205 |
362 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA215402339 rs367857182 |
363 | T>I | No |
ClinGen ESP TOPMed |
|
CA378697378 rs1565062863 |
365 | I>T | No |
ClinGen Ensembl |
|
rs576201052 CA215402343 |
369 | I>V | No |
ClinGen gnomAD |
|
rs543157521 CA5742200 |
370 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1049921083 CA215402359 |
371 | A>D | No |
ClinGen Ensembl |
|
CA215402352 rs995256286 |
371 | A>T | No |
ClinGen Ensembl |
|
CA378697469 rs1591641797 |
374 | V>I | No |
ClinGen Ensembl |
|
rs374940596 CA5742201 |
375 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1348327633 CA378697525 |
377 | K>N | No |
ClinGen gnomAD |
|
rs1478307594 CA378697518 |
377 | K>R | No |
ClinGen TOPMed |
|
CA378697856 rs199995435 |
381 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378697861 rs1373096449 |
382 | W>* | No |
ClinGen TOPMed |
|
CA378697876 rs1306912748 |
384 | T>I | No |
ClinGen TOPMed |
|
rs749969211 CA5742225 |
385 | L>F | No |
ClinGen ExAC gnomAD |
|
rs760275463 CA5742226 |
387 | L>V | No |
ClinGen ExAC gnomAD |
|
CA378697899 rs1206994380 |
388 | L>I | No |
ClinGen gnomAD |
|
CA378697906 rs1252534780 |
389 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA5742227 rs765913843 |
391 | D>V | No |
ClinGen ExAC |
|
rs778778518 CA5742230 |
392 | I>M | No |
ClinGen ExAC gnomAD |
|
CA5742229 rs754712267 |
392 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753590775 CA5742228 |
392 | I>V | No |
ClinGen ExAC gnomAD |
|
CA5742231 rs752509827 |
396 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA378697952 rs1389761562 |
396 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA378697959 rs1374460922 |
397 | K>R | No |
ClinGen TOPMed |
|
rs368944664 CA5742235 |
400 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1158959302 CA378697999 |
403 | V>M | No |
ClinGen TOPMed |
|
TCGA novel | 405 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 408 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs372560858 CA5742238 |
408 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs751481585 CA215408902 |
409 | V>L | No |
ClinGen gnomAD |
|
TCGA novel | 411 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5742239 rs774786886 |
411 | R>P | No |
ClinGen ExAC TOPMed |
|
rs772592699 CA5742241 |
413 | T>K | No |
ClinGen ExAC gnomAD |
|
CA215408937 rs1016113106 |
415 | F>V | No |
ClinGen gnomAD |
|
CA5742242 rs773745149 |
416 | P>L | No |
ClinGen ExAC gnomAD |
|
CA5742269 rs757225154 |
422 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA5742270 rs766333447 |
424 | V>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 427 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1227645266 CA378698176 |
428 | I>T | No |
ClinGen gnomAD |
|
CA5742271 rs753975651 |
429 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA378698179 rs1311909304 |
429 | Y>H | No |
ClinGen TOPMed |
|
rs779079768 CA5742273 |
430 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs529958746 CA5742274 |
431 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5742276 rs778112893 |
431 | T>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 431 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs529958746 CA5742275 |
431 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1208440375 CA378698196 |
432 | L>S | No |
ClinGen TOPMed gnomAD |
|
rs747473475 CA5742277 |
434 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA215418317 rs753729676 |
434 | Q>R | No |
ClinGen Ensembl |
|
CA378698215 rs1490665080 |
435 | G>E | No |
ClinGen gnomAD |
|
CA378698213 rs1467671398 |
435 | G>R | No |
ClinGen TOPMed |
|
CA5742278 rs374932663 |
436 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA378698249 rs1410365816 |
440 | G>R | No |
ClinGen gnomAD |
|
rs1473310885 CA378698258 |
441 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA378698267 rs1399975788 |
442 | K>R | No |
ClinGen TOPMed |
|
CA5742280 rs745351794 |
445 | A>V | No |
ClinGen ExAC gnomAD |
|
CA215418337 rs910579337 |
446 | K>N | No |
ClinGen TOPMed gnomAD |
|
rs1409161195 CA378698303 |
448 | V>M | No |
ClinGen gnomAD |
|
CA378698324 rs1288568021 |
451 | T>A | No |
ClinGen gnomAD |
|
rs551125851 CA5742283 |
451 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1225590018 CA378698329 |
452 | V>L | No |
ClinGen gnomAD |
|
CA5742286 rs761609326 |
455 | Y>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 455 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1294429988 CA378698353 |
456 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs1204850631 CA378698374 |
458 | D>V | No |
ClinGen gnomAD |
|
TCGA novel | 460 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5742289 rs755068207 |
461 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs765309599 CA5742290 |
461 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5742291 rs372790668 |
462 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200316381 CA378698421 |
464 | H>D | No |
ClinGen gnomAD |
|
rs764269961 CA5742310 |
464 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200316381 CA215419627 |
464 | H>Y | No |
ClinGen gnomAD |
|
rs1338767837 CA378698428 |
465 | V>M | No |
ClinGen gnomAD |
|
TCGA novel | 466 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5742311 rs201991461 |
468 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1434561401 CA378698449 |
468 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA378698453 rs1215503619 |
469 | G>R | No |
ClinGen gnomAD |
|
CA5742314 rs374761788 |
470 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1360356480 CA378698463 |
471 | G>S | No |
ClinGen TOPMed |
|
CA5742315 rs756721903 |
473 | E>K | No |
ClinGen ExAC gnomAD |
|
CA5742316 rs779665451 |
474 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378698499 rs1388879817 |
476 | S>* | No |
ClinGen TOPMed |
|
TCGA novel | 478 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1564741478 CA378698519 |
479 | K>E | No |
ClinGen Ensembl |
|
CA5742321 rs771828391 |
479 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5742322 rs771828391 |
479 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1190403810 CA378698532 |
481 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs760609272 CA5742323 |
482 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1481344953 CA378698567 |
486 | V>L | No |
ClinGen gnomAD |
|
rs373413868 CA5742324 |
489 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373413868 CA378698589 |
489 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA378698594 rs1456939677 |
490 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs776589124 CA378698596 |
490 | R>H | No |
ClinGen ExAC gnomAD |
|
CA5742325 rs776589124 |
490 | R>L | No |
ClinGen ExAC gnomAD |
|
rs763016476 CA5742327 |
495 | V>F | No |
ClinGen ExAC gnomAD |
|
rs907467357 CA215419694 |
496 | K>E | No |
ClinGen TOPMed |
|
CA5742328 rs544408185 |
496 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA378698825 rs1179750735 |
497 | V>M | No |
ClinGen gnomAD |
|
rs868221807 CA215421438 |
498 | A>D | No |
ClinGen TOPMed |
|
CA378698831 rs1470645685 |
498 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs868221807 CA215421439 |
498 | A>V | No |
ClinGen TOPMed |
|
CA378698854 rs1162617739 |
500 | P>S | No |
ClinGen TOPMed |
|
CA378698865 rs1427018541 |
501 | I>F | No |
ClinGen gnomAD |
|
rs1370503320 CA378698875 |
502 | E>K | No |
ClinGen gnomAD |
|
rs768714380 CA5742347 |
504 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs762048054 CA5742349 |
506 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5742350 rs150790785 |
506 | R>H | Variant assessed as Somatic; 0.0003247 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs150790785 CA378698942 |
506 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA215421489 rs762048054 |
506 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1384540848 CA378698949 |
507 | S>C | No |
ClinGen gnomAD |
|
CA5742351 rs773525849 |
507 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1340008027 CA378698996 |
510 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA378698992 rs1273560968 |
510 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA378699000 rs1273598919 |
511 | F>L | No |
ClinGen gnomAD |
|
CA5742353 rs200582355 |
512 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs201574191 CA5742354 |
514 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs754326476 CA215421550 |
514 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs754326476 CA5742355 |
514 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1392368693 CA378699048 |
515 | H>Y | No |
ClinGen TOPMed |
|
TCGA novel | 519 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA215426618 rs920079674 |
522 | K>R | No |
ClinGen gnomAD |
|
CA378700526 rs1178355665 |
523 | D>N | No |
ClinGen TOPMed |
|
TCGA novel | 523 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs931618115 CA215426622 |
524 | K>R | No |
ClinGen Ensembl |
|
CA378700557 rs1224167905 |
525 | S>T | No |
ClinGen gnomAD |
|
rs1260433091 CA378700606 |
528 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA5742378 rs765628505 |
533 | F>C | No |
ClinGen ExAC gnomAD |
|
CA5742379 rs753313500 |
537 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1208161011 CA378700744 |
539 | Y>C | No |
ClinGen TOPMed |
|
rs1490335008 CA378700753 |
540 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA378700845 rs1591745470 |
546 | D>G | No |
ClinGen Ensembl |
|
CA5742386 rs755980419 |
547 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1057180572 CA215426699 |
550 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA5742389 rs771991452 |
552 | I>T | No |
ClinGen ExAC gnomAD |
|
rs535572784 CA5742391 |
553 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5742393 rs373756074 |
554 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373756074 CA5742392 |
554 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 555 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378701035 rs1242213957 |
556 | A>T | No |
ClinGen gnomAD |
|
CA378701051 rs1185208689 |
557 | E>K | No |
ClinGen gnomAD |
|
CA5742419 rs761310036 |
558 | A>G | No |
ClinGen ExAC gnomAD |
|
CA378701173 rs1591747447 |
563 | D>V | No |
ClinGen Ensembl |
|
rs1591747467 CA378701200 |
564 | A>V | No |
ClinGen Ensembl |
|
rs1356201975 CA378701211 |
565 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA378701203 rs1356201975 |
565 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA5742423 rs766035033 |
566 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746067129 CA215427286 |
568 | L>F | No |
ClinGen Ensembl |
|
rs1253401024 CA378701285 |
569 | S>I | No |
ClinGen TOPMed |
|
rs1403065120 CA378701278 |
569 | S>R | No |
ClinGen gnomAD |
|
rs754857756 CA5742425 |
571 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1384057049 CA378701353 |
573 | T>A | No |
ClinGen gnomAD |
|
CA5742427 rs372005171 |
573 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 576 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1463359784 CA378701472 |
579 | E>A | No |
ClinGen TOPMed gnomAD |
|
CA378701464 rs1309768528 |
579 | E>K | No |
ClinGen gnomAD |
|
rs1204626691 CA378701507 |
581 | G>V | No |
ClinGen gnomAD |
|
CA5742429 rs781425786 |
582 | H>R | No |
ClinGen ExAC gnomAD |
|
CA5742430 rs368083273 |
583 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs754821075 CA215427374 |
583 | S>T | No |
ClinGen TOPMed gnomAD |
|
rs756381755 CA5742431 |
584 | A>D | No |
ClinGen ExAC gnomAD |
|
rs1306167561 CA378701570 |
586 | G>A | No |
ClinGen TOPMed |
|
CA378701564 rs749635446 |
586 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749635446 CA5742433 |
586 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378701626 rs769077651 CA5742434 |
589 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378701620 rs1428623506 |
589 | M>T | No |
ClinGen gnomAD |
|
CA378701614 rs1171513306 |
589 | M>V | No |
ClinGen gnomAD |
|
rs1332274941 CA378701633 |
590 | Q>* | No |
ClinGen TOPMed |
|
CA378701688 rs1436539401 |
592 | L>P | No |
ClinGen gnomAD |
|
CA378701700 rs1338989712 |
593 | G>E | No |
ClinGen gnomAD |
|
CA378701710 rs1407109652 |
594 | S>N | No |
ClinGen gnomAD |
|
rs748671173 CA5742436 |
595 | C>F | No |
ClinGen ExAC gnomAD |
|
rs774829252 CA5742435 |
595 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774829252 CA378701718 |
595 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748671173 CA378701724 |
595 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs1591747990 CA378701739 |
596 | T>I | No |
ClinGen Ensembl |
|
CA5742439 rs760148261 |
597 | I>T | No |
ClinGen ExAC gnomAD |
|
rs375864195 CA5742438 |
597 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA378701761 rs1465498890 |
598 | S>G | No |
ClinGen TOPMed |
|
CA215427433 rs540708875 |
598 | S>T | No |
ClinGen Ensembl |
|
rs1591748093 CA378701822 |
601 | S>F | No |
ClinGen Ensembl |
|
CA5742441 rs776210962 |
604 | I>F | No |
ClinGen ExAC gnomAD |
|
CA215427467 rs566255432 |
605 | S>F | No |
ClinGen TOPMed gnomAD |
|
CA5742443 rs765135339 |
605 | S>P | No |
ClinGen ExAC gnomAD |
|
CA378701876 rs566255432 |
605 | S>Y | No |
ClinGen TOPMed gnomAD |
|
CA5742444 rs752613726 |
606 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
TCGA novel | 607 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5742447 rs750494984 |
608 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1426153607 CA378701924 |
609 | C>W | No |
ClinGen gnomAD |
|
CA215427485 rs924154879 |
612 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA215427490 rs868796008 |
615 | Q>K | No |
ClinGen Ensembl |
|
rs1347271770 CA378702023 |
617 | V>M | No |
ClinGen gnomAD |
|
rs372475096 CA5742465 |
622 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
CA378702895 rs1357885669 |
622 | L>P | No |
ClinGen TOPMed gnomAD |
|
CA378702922 rs1407424333 |
626 | R>C | No |
ClinGen TOPMed |
|
CA5742467 rs753998108 |
626 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755211550 CA5742468 |
627 | S>F | No |
ClinGen ExAC gnomAD |
|
CA5742469 rs566128248 |
628 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA378702938 rs1591768418 |
629 | T>P | No |
ClinGen Ensembl |
|
rs959880312 CA215432610 |
630 | S>T | No |
ClinGen TOPMed |
|
CA5742470 rs753042267 |
634 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA378703003 rs1451414779 |
638 | Q>R | No |
ClinGen gnomAD |
|
rs540128098 CA378703025 CA378703026 |
641 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs747478024 CA5742473 |
641 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378703027 rs1337297926 |
642 | V>I | No |
ClinGen gnomAD |
|
rs745478937 CA5742477 |
643 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA5742478 rs769540835 |
644 | G>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 644 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378703067 rs1304946826 |
648 | V>L | No |
ClinGen TOPMed |
|
CA378703366 rs1466192762 |
650 | F>Y | No |
ClinGen gnomAD |
|
CA378703461 rs1382571749 |
657 | A>V | No |
ClinGen gnomAD |
|
rs748075720 CA5742511 |
659 | F>L | No |
ClinGen ExAC gnomAD |
|
rs758242756 CA215436549 |
660 | N>S | No |
ClinGen TOPMed |
|
rs771868772 CA5742513 |
663 | M>K | No |
ClinGen ExAC |
|
rs773196502 CA5742514 |
665 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773196502 CA378703543 |
665 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 667 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378703584 rs1343423456 |
668 | S>N | No |
ClinGen TOPMed |
|
rs759611299 CA5742516 |
669 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765309183 CA5742517 |
672 | D>E | No |
ClinGen ExAC gnomAD |
|
rs775635038 CA5742518 |
673 | T>M | No |
ClinGen ExAC gnomAD |
|
rs1314185345 CA378703646 |
673 | T>P | No |
ClinGen gnomAD |
|
CA378703700 rs1219227153 |
677 | D>G | No |
ClinGen TOPMed gnomAD |
|
rs1219227153 CA378703701 |
677 | D>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1287441421 CA378703706 |
678 | A>P | No |
ClinGen gnomAD |
|
CA378703707 rs1287441421 |
678 | A>S | No |
ClinGen gnomAD |
|
TCGA novel | 680 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA215436903 rs968353366 |
682 | I>T | No |
ClinGen TOPMed gnomAD |
|
rs775579849 CA5742535 |
682 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5742537 rs764200154 |
684 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1384335317 CA378703823 |
685 | L>M | No |
ClinGen gnomAD |
|
rs774692785 CA5742538 |
686 | I>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 691 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1350380468 CA378703918 |
693 | H>Y | No |
ClinGen gnomAD |
|
CA5742540 rs767998082 |
700 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5742541 rs750900337 |
702 | I>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 706 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378704031 rs1382568334 |
708 | A>V | No |
ClinGen gnomAD |
|
CA5742544 rs753252079 |
709 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778430296 CA5742546 |
710 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1226075729 CA378704045 |
711 | A>S | No |
ClinGen gnomAD |
|
TCGA novel | 711 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378704062 rs1249062472 |
713 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA215443296 rs933090160 |
717 | K>E | No |
ClinGen TOPMed |
|
CA5742564 rs534778303 |
717 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5742563 rs754439781 |
717 | K>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 718 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378704699 rs1470106864 |
720 | K>R | No |
ClinGen TOPMed |
|
CA378704721 rs1380330832 |
721 | N>K | No |
ClinGen TOPMed |
|
CA5742567 rs758080614 |
725 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5742566 rs752245963 |
725 | G>S | No |
ClinGen ExAC gnomAD |
|
CA5742569 rs751334535 |
726 | A>G | No |
ClinGen ExAC gnomAD |
|
rs777443663 CA5742568 |
726 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1171394109 CA378704795 |
728 | K>R | No |
ClinGen gnomAD |
|
CA5742570 rs757101826 |
729 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1202352194 CA378704802 |
729 | P>T | No |
ClinGen gnomAD |
|
CA5742571 rs780986950 |
732 | N>T | No |
ClinGen ExAC gnomAD |
|
rs932040229 CA215443352 |
733 | E>D | No |
ClinGen Ensembl |
|
rs372221636 CA5742573 |
733 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs745821655 CA5742572 |
733 | E>K | No |
ClinGen ExAC gnomAD |
|
rs372221636 CA5742574 |
733 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5742575 rs199584647 |
738 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5742577 rs773612844 |
739 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772389830 CA5742576 |
739 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 740 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378704902 rs765597446 |
741 | A>E | No |
ClinGen gnomAD |
|
CA215443368 rs765597446 |
741 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA5742580 rs776949839 |
745 | I>V | No |
ClinGen ExAC gnomAD |
|
CA378704933 rs1213382070 |
746 | F>C | No |
ClinGen gnomAD |
|
CA5742581 rs760112759 |
746 | F>V | No |
ClinGen ExAC |
|
rs1288084617 CA378704939 |
747 | K>T | No |
ClinGen gnomAD |
|
CA378704951 rs1488543680 |
748 | F>L | No |
ClinGen gnomAD |
|
CA5742582 rs558883419 |
749 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs902914475 CA378704959 |
750 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs902914475 CA215443399 |
750 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA215443404 rs999910753 |
751 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
TCGA novel | 752 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs752173506 CA5742583 |
754 | I>N | No |
ClinGen ExAC gnomAD |
|
CA378705000 rs1363016393 |
757 | N>H | No |
ClinGen gnomAD |
|
rs200247221 CA5742587 |
757 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 758 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 758 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1303046238 CA378705011 |
758 | Q>R | No |
ClinGen gnomAD |
|
TCGA novel | 762 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378694859 rs1458547725 |
765 | E>K | No |
ClinGen gnomAD |
|
rs1367250635 CA378694874 |
767 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1367250635 CA378694873 |
767 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA5742607 rs565353780 |
769 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs565353780 CA5742606 |
769 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs753889992 CA378694898 |
770 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5742608 rs376380186 |
770 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373010349 CA5742610 |
776 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA378694934 rs1400567493 |
776 | F>S | No |
ClinGen gnomAD |
|
rs778026459 CA5742611 |
777 | R>G | No |
ClinGen ExAC gnomAD |
|
rs377325661 CA5742613 |
780 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370953579 CA5742614 |
780 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1317440231 CA378694973 |
782 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA378695012 rs1260244336 |
786 | M>I | No |
ClinGen gnomAD |
|
CA378695008 rs1216873725 |
786 | M>L | No |
ClinGen gnomAD |
|
CA378695007 rs1216873725 |
786 | M>V | No |
ClinGen gnomAD |
|
CA5742616 rs374649102 |
787 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
CA378695029 rs1203458725 |
789 | Q>E | No |
ClinGen gnomAD |
|
rs933649201 CA215393295 |
789 | Q>H | No |
ClinGen TOPMed gnomAD |
|
CA378695032 rs1254462018 |
789 | Q>R | No |
ClinGen gnomAD |
|
rs1188908215 CA378695040 |
790 | T>S | No |
ClinGen gnomAD |
|
rs749808299 CA5742618 |
791 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378695047 rs1423910041 |
792 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA5742619 rs768105994 |
792 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1170622824 CA378695060 |
794 | K>R | No |
ClinGen gnomAD |
|
rs201249300 CA5742639 CA378700003 |
795 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs371126639 CA5742640 |
796 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5742641 rs771545500 |
797 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5742643 rs375666837 |
800 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1384528233 CA378700122 |
802 | P>L | No |
ClinGen gnomAD |
|
CA378700114 rs1159242265 |
802 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs199851857 CA5742644 |
803 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5742645 rs373968953 |
803 | T>M | Variant assessed as Somatic; 4.996e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs201701102 CA215425068 |
805 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs1310640476 CA378700181 |
806 | N>S | No |
ClinGen gnomAD |
|
rs924140488 CA215425073 |
806 | N>Y | No |
ClinGen Ensembl |
|
rs767508399 CA5742650 |
807 | D>H | No |
ClinGen ExAC gnomAD |
|
CA378700210 rs1266655656 |
808 | V>M | No |
ClinGen gnomAD |
|
TCGA novel | 811 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs750609368 CA5742651 |
812 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA215425081 rs935399816 |
813 | D>G | No |
ClinGen Ensembl |
|
rs756360164 CA5742652 |
813 | D>H | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 813 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1241224348 CA378700334 |
815 | K>R | No |
ClinGen TOPMed |
|
CA378700359 rs1255402162 |
816 | E>D | No |
ClinGen gnomAD |
|
rs1338820027 CA378700343 |
816 | E>K | No |
ClinGen TOPMed |
|
CA378700364 rs1421935688 |
817 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA378702224 rs1310276141 |
820 | M>T | No |
ClinGen gnomAD |
|
rs184254832 CA5742678 |
820 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs756894483 CA5742679 |
821 | F>C | No |
ClinGen ExAC gnomAD |
|
rs2379163 CA215427712 |
821 | F>I | No |
ClinGen Ensembl |
|
rs1461914120 CA378702250 |
821 | F>L | No |
ClinGen TOPMed |
|
rs921062915 CA215427722 |
822 | T>S | No |
ClinGen Ensembl |
|
rs780925155 CA5742681 |
825 | I>T | No |
ClinGen ExAC gnomAD |
|
CA5742682 rs61758436 |
827 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1187388499 CA378702362 |
829 | P>S | No |
ClinGen gnomAD |
|
CA215427782 rs912296017 |
830 | M>L | No |
ClinGen TOPMed gnomAD |
|
rs749146009 CA5742685 |
830 | M>T | No |
ClinGen ExAC gnomAD |
|
rs565727397 CA378702505 |
835 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1311332438 CA378702496 |
835 | I>S | No |
ClinGen TOPMed |
|
rs760735470 CA5742688 |
835 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5742690 rs776773235 |
836 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA5742691 rs759788937 |
837 | K>T | No |
ClinGen ExAC gnomAD |
|
rs1220764621 CA378702558 |
838 | L>F | No |
ClinGen gnomAD |
|
TCGA novel | 840 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs765539210 CA5742692 |
840 | C>S | No |
ClinGen ExAC gnomAD |
|
CA5742694 rs752986153 |
842 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764504730 CA5742695 |
843 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA5742697 rs369209061 |
845 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs780873777 CA5742698 |
846 | H>R | No |
ClinGen ExAC gnomAD |
|
rs769284782 CA215427854 |
850 | F>L | No |
ClinGen Ensembl |
|
CA5742700 rs755690198 |
852 | Q>L | No |
ClinGen ExAC gnomAD |
|
CA378702824 rs755690198 |
852 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs376145835 | 853 | H>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs140948917 CA5742701 |
853 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs376519025 CA5742721 |
854 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
CA5742722 rs747980358 |
855 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 857 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 858 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1480875553 CA378694541 |
858 | I>V | No |
ClinGen TOPMed |
|
CA378694554 rs1377138637 |
860 | L>F | No |
ClinGen gnomAD |
|
CA378694557 rs1592122602 |
860 | L>R | No |
ClinGen Ensembl |
|
CA5742723 rs771978308 |
861 | P>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 862 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs745935203 CA5742725 |
862 | M>V | No |
ClinGen ExAC gnomAD |
|
CA378694583 rs61733299 |
864 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs61733299 CA5742726 |
864 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs763260338 CA5742728 |
865 | D>H | No |
ClinGen ExAC gnomAD |
|
CA215419404 rs367890029 |
865 | D>V | No |
ClinGen ESP |
|
CA378694585 rs763260338 |
865 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA378694609 rs1473496748 |
868 | K>R | No |
ClinGen gnomAD |
|
rs562575974 CA215419430 |
874 | Q>P | No |
ClinGen 1000Genomes |
|
rs751037501 CA5742733 |
875 | E>K | No |
ClinGen ExAC gnomAD |
|
rs988131523 CA215419440 |
876 | D>N | No |
ClinGen gnomAD |
|
CA378694672 rs1413687539 |
877 | L>Q | No |
ClinGen gnomAD |
|
rs780385884 CA5742734 |
881 | C>S | No |
ClinGen ExAC gnomAD |
|
rs765922744 CA378694730 |
885 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1416712859 CA378694731 |
886 | H>N | No |
ClinGen gnomAD |
|
CA5742737 rs753380712 |
887 | I>M | No |
ClinGen ExAC |
|
rs747520696 CA5742740 |
893 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5742741 rs769237090 |
893 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA215419505 rs575962615 |
896 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs575962615 CA5742743 |
896 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs540787166 CA5742763 |
897 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5742764 rs370003810 |
899 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370003810 CA378695087 |
899 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1417956801 CA378695110 |
902 | H>R | No |
ClinGen gnomAD |
|
rs1161613892 CA378695108 |
902 | H>Y | No |
ClinGen TOPMed |
|
rs201486952 CA5742766 |
903 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs755175575 CA5742767 |
904 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779210116 CA5742768 |
905 | I>M | No |
ClinGen ExAC gnomAD |
|
CA5742769 rs748390399 |
906 | I>V | No |
ClinGen ExAC gnomAD |
|
CA5742771 rs773654503 |
907 | M>I | No |
ClinGen ExAC gnomAD |
|
rs199604643 CA5742770 |
907 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA378695188 rs1193178625 |
909 | K>N | No |
ClinGen TOPMed |
|
rs1288540444 CA378695190 |
910 | L>I | No |
ClinGen TOPMed |
|
rs1352072213 CA378695198 |
911 | L>F | No |
ClinGen gnomAD |
|
rs1352072213 CA378695196 |
911 | L>I | No |
ClinGen gnomAD |
|
CA378695203 rs1260759936 |
912 | R>Q | No |
ClinGen gnomAD |
|
CA5742772 rs747371637 |
912 | R>W | No |
ClinGen ExAC gnomAD |
|
CA378695206 rs1220944266 |
913 | T>S | No |
ClinGen TOPMed |
|
rs777074727 CA5742774 |
914 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5742775 rs564483519 |
916 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5742777 rs200822411 |
918 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5742779 rs763777130 CA378695259 |
921 | M>I | No |
ClinGen ExAC gnomAD |
|
rs751349226 CA5742780 |
922 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1364506709 CA378695267 |
923 | R>* | No |
ClinGen gnomAD |
|
CA5742782 rs376227113 |
925 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 927 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs750331091 CA5742783 |
928 | I>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 929 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 929 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA215468613 rs908098532 |
930 | N>Y | No |
ClinGen Ensembl |
|
CA5743246 rs772236426 |
931 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743248 rs761014552 |
932 | V>L | No |
ClinGen ExAC gnomAD |
|
rs76861764 CA5743250 |
934 | C>F | No |
ClinGen ExAC gnomAD |
|
rs759069075 CA5743252 |
935 | M>I | No |
ClinGen ExAC gnomAD |
|
CA378704312 rs1228123616 |
935 | M>V | No |
ClinGen gnomAD |
|
TCGA novel | 936 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1249580664 CA378704325 |
937 | A>T | No |
ClinGen TOPMed |
|
rs552636749 CA5743254 |
938 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA5743255 rs758055664 |
940 | R>* | No |
ClinGen ExAC gnomAD |
|
rs571040090 CA378704346 |
940 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs571040090 CA5743256 |
940 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1192580730 CA378704353 |
941 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs757013446 CA5743258 |
943 | E>D | No |
ClinGen ExAC |
|
rs538234861 CA5743257 |
943 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs781055542 CA5743259 |
947 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743260 rs745832837 |
948 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378704406 rs1413875006 |
948 | A>V | No |
ClinGen gnomAD |
|
rs1163988403 CA378704419 |
950 | L>F | No |
ClinGen gnomAD |
|
rs756081289 CA5743261 |
950 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1379341893 CA378704422 |
951 | I>V | No |
ClinGen Ensembl |
|
CA5743262 rs778946818 |
952 | K>R | No |
ClinGen ExAC gnomAD |
|
CA5743263 rs748238377 |
953 | T>I | No |
ClinGen ExAC gnomAD |
|
CA378704451 rs1383037723 |
955 | G>E | No |
ClinGen gnomAD |
|
rs1305219249 CA378704449 |
955 | G>R | No |
ClinGen gnomAD |
|
CA215468750 rs916062123 |
958 | R>T | No |
ClinGen TOPMed gnomAD |
|
rs772337291 CA5743264 |
959 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773312920 CA5743266 |
959 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743265 rs773312920 |
959 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772337291 CA215468784 |
959 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378704481 rs1173349146 |
960 | D>Y | No |
ClinGen TOPMed |
|
CA5743268 rs777238665 |
961 | V>M | No |
ClinGen ExAC gnomAD |
|
rs760088702 CA5743269 |
962 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760088702 CA5743270 |
962 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743286 rs781679502 |
963 | D>E | No |
ClinGen ExAC gnomAD |
|
CA5743285 rs771319631 |
963 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA378904024 rs1333982113 |
967 | E>K | No |
ClinGen gnomAD |
|
CA5743288 rs770357047 |
968 | T>A | No |
ClinGen ExAC gnomAD |
|
CA215762781 rs1009239241 |
969 | F>L | No |
ClinGen TOPMed |
|
TCGA novel | 970 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378904055 rs1337890337 |
971 | M>T | No |
ClinGen gnomAD |
|
CA5743290 rs762473066 |
973 | K>E | No |
ClinGen ExAC gnomAD |
|
CA5743291 rs762473066 |
973 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA5743292 rs773948788 |
978 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA215762783 rs922456430 |
980 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA378904125 rs1313661034 |
981 | Y>C | No |
ClinGen gnomAD |
|
rs1247285295 CA378904143 |
984 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1247285295 CA378904145 |
984 | D>Y | No |
ClinGen gnomAD |
|
rs750218824 CA5743296 |
986 | V>M | No |
ClinGen ExAC gnomAD |
|
CA378904171 rs1243900750 |
987 | I>M | No |
ClinGen gnomAD |
|
rs777306228 CA215762784 |
988 | M>V | No |
ClinGen Ensembl |
|
CA378904195 rs1475899705 |
990 | M>I | No |
ClinGen gnomAD |
|
rs933784636 CA215762785 |
990 | M>V | No |
ClinGen Ensembl |
|
CA5743297 rs760469931 |
992 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1052142234 CA215762786 |
994 | K>Q | No |
ClinGen Ensembl |
|
rs1405156269 CA378904906 |
995 | V>A | No |
ClinGen gnomAD |
|
rs1367093758 CA378904903 |
995 | V>I | No |
ClinGen gnomAD |
|
rs1398707029 CA378904924 |
998 | R>Q | No |
ClinGen TOPMed |
|
rs1348391916 CA378904927 |
999 | A>T | No |
ClinGen gnomAD |
|
rs1241104323 CA378904934 |
1000 | I>V | No |
ClinGen gnomAD |
|
CA5743310 rs773717326 |
1001 | N>K | No |
ClinGen ExAC gnomAD |
|
CA378904951 rs1300280923 |
1002 | Q>R | No |
ClinGen gnomAD |
|
CA378904970 rs556752202 |
1005 | D>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA215772802 rs556752202 |
1005 | D>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA378904979 rs1023316151 |
1006 | M>R | No |
ClinGen TOPMed gnomAD |
|
CA215772803 rs1023316151 |
1006 | M>T | No |
ClinGen TOPMed gnomAD |
|
CA378904977 rs1466606676 |
1006 | M>V | No |
ClinGen TOPMed |
|
rs1209277586 CA378904998 |
1009 | K>Q | No |
ClinGen gnomAD |
|
rs1289652913 CA378905002 |
1009 | K>R | No |
ClinGen gnomAD |
|
rs1223491742 CA378905046 |
1015 | A>V | No |
ClinGen gnomAD |
|
CA378905079 rs1471782044 |
1020 | Q>E | No |
ClinGen gnomAD |
|
rs747728321 CA5743311 |
1020 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA215773374 rs751082778 |
1024 | N>S | No |
ClinGen Ensembl |
|
rs750702181 CA5743322 |
1025 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1029 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1338552598 CA378905168 |
1031 | A>T | No |
ClinGen gnomAD |
|
CA215773375 rs754620266 |
1032 | F>S | No |
ClinGen Ensembl |
|
rs368330561 CA5743325 |
1034 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA378905193 rs1306029906 |
1035 | Q>E | No |
ClinGen gnomAD |
|
CA378905212 rs1229870963 |
1037 | S>F | No |
ClinGen gnomAD |
|
rs1344672799 CA378905228 |
1040 | L>V | No |
ClinGen gnomAD |
|
CA5743328 rs747602279 |
1045 | S>G | No |
ClinGen ExAC gnomAD |
|
CA5743329 rs771596017 |
1045 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1048 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs772813516 CA378905285 |
1048 | R>I | No |
ClinGen ExAC gnomAD |
|
rs772813516 CA5743330 |
1048 | R>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1055 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5743351 rs571598696 |
1056 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs769660658 CA5743353 |
1058 | M>I | No |
ClinGen ExAC gnomAD |
|
rs369729371 CA5743352 |
1058 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1228329689 CA378906507 |
1059 | R>M | No |
ClinGen TOPMed gnomAD |
|
rs955714301 CA215774786 |
1062 | I>T | No |
ClinGen Ensembl |
|
CA5743354 rs775462971 |
1063 | G>V | No |
ClinGen ExAC gnomAD |
|
CA215774787 rs987430227 |
1067 | R>G | No |
ClinGen TOPMed |
|
CA5743355 rs762958999 |
1069 | M>L | No |
ClinGen ExAC gnomAD |
|
CA5743356 rs768768253 |
1069 | M>T | No |
ClinGen ExAC gnomAD |
|
CA378906674 rs1310971854 |
1071 | Y>N | No |
ClinGen TOPMed |
|
rs538891858 CA215774788 |
1073 | L>V | No |
ClinGen 1000Genomes |
|
CA378907945 rs1356634716 |
1076 | H>D | No |
ClinGen gnomAD |
|
CA378907973 rs760626662 |
1077 | K>N | No |
ClinGen ExAC gnomAD |
|
rs771076238 CA5743379 |
1078 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1052198907 CA215775752 |
1081 | I>V | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1082 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs759783494 CA5743381 |
1085 | V>A | No |
ClinGen ExAC gnomAD |
|
rs776618144 CA5743380 |
1085 | V>L | No |
ClinGen ExAC gnomAD |
|
CA378908080 rs1212431084 |
1086 | G>V | No |
ClinGen gnomAD |
|
CA5743383 rs376332631 |
1087 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA378908105 rs1427462174 |
1088 | I>M | No |
ClinGen TOPMed gnomAD |
|
CA378908190 rs1185551682 |
1095 | P>A | No |
ClinGen gnomAD |
|
CA215775753 rs547210300 |
1096 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA5743388 rs547210300 |
1096 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA215775754 rs371052769 |
1097 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5743389 rs371052769 |
1097 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs769248529 CA5743391 |
1100 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs543711382 CA5743392 |
1100 | R>H | No |
ClinGen ExAC gnomAD |
|
rs778956657 CA5743394 |
1102 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1045658598 CA215775755 |
1105 | P>L | No |
ClinGen TOPMed |
|
rs559057300 CA5743396 |
1106 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 1109 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5743398 rs746002233 |
1110 | M>I | No |
ClinGen ExAC gnomAD |
|
CA5743397 rs376214107 |
1110 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA378908352 rs769937903 CA5743399 |
1111 | M>I | No |
ClinGen ExAC gnomAD |
|
CA378908350 rs1483945911 |
1111 | M>T | No |
ClinGen TOPMed |
|
CA5743400 rs775710859 |
1114 | E>D | No |
ClinGen ExAC gnomAD |
|
CA215775756 rs772802705 |
1117 | S>L | No |
ClinGen Ensembl |
|
rs538272737 CA5743403 |
1119 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA378908404 rs538272737 |
1119 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs762364778 CA5743404 |
1119 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1446442282 CA378908419 |
1121 | F>S | No |
ClinGen gnomAD |
|
CA5743407 rs755695055 |
1123 | M>T | No |
ClinGen ExAC gnomAD |
|
CA5743406 rs749876956 |
1123 | M>V | No |
ClinGen ExAC gnomAD |
|
rs754665616 CA5743427 |
1126 | N>K | No |
ClinGen ExAC |
|
rs764865801 CA5743428 |
1127 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1159849946 CA378908479 |
1127 | E>G | No |
ClinGen gnomAD |
|
CA5743429 rs372035320 |
1128 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs758143089 CA5743430 |
1129 | I>V | No |
ClinGen ExAC gnomAD |
|
CA5743431 rs777724701 |
1131 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378908521 rs1333959983 |
1134 | H>Y | No |
ClinGen gnomAD |
|
CA378908535 rs1241085681 |
1135 | E>D | No |
ClinGen gnomAD |
|
CA378908546 rs1354421706 |
1137 | E>G | No |
ClinGen gnomAD |
|
rs780093667 CA5743434 |
1139 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768795514 CA5743436 |
1143 | E>* | No |
ClinGen ExAC TOPMed |
|
CA378908585 rs1286713522 |
1143 | E>G | No |
ClinGen TOPMed |
|
rs768795514 CA378908584 |
1143 | E>K | No |
ClinGen ExAC TOPMed |
|
rs779014762 CA5743437 |
1144 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs748493017 CA5743438 |
1147 | V>M | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1150 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378908633 rs1319470770 |
1150 | D>N | No |
ClinGen TOPMed |
|
rs1565037121 CA378908670 |
1153 | L>F | No |
ClinGen Ensembl |
|
TCGA novel | 1154 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378908682 rs1424098787 |
1155 | E>A | No |
ClinGen gnomAD |
|
rs772390566 CA5743461 |
1156 | H>R | No |
ClinGen ExAC gnomAD |
|
rs778273756 CA5743462 |
1157 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373366495 CA5743463 |
1157 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA5743465 rs777293748 |
1159 | K>E | No |
ClinGen ExAC gnomAD |
|
CA5743466 rs759069214 |
1160 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769154273 CA5743467 |
1161 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762500269 CA378908735 |
1162 | Y>* | No |
ClinGen ExAC gnomAD |
|
rs1295063969 CA378908733 |
1162 | Y>C | No |
ClinGen gnomAD |
|
rs751285414 CA5743471 |
1164 | A>T | No |
ClinGen ExAC gnomAD |
|
CA5743472 rs761606041 |
1166 | T>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1167 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1035423763 CA215777189 |
1168 | E>G | No |
ClinGen Ensembl |
|
rs750388676 CA5743474 |
1168 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1204213099 CA378908782 |
1170 | F>S | No |
ClinGen gnomAD |
|
CA215777190 rs758548443 |
1174 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743478 rs758548443 |
1174 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1565037300 | 1175 | V>missing | Variant assessed as Somatic; 4.648e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
rs778147174 CA5743479 |
1176 | R>C | No |
ClinGen ExAC gnomAD |
|
CA5743480 rs138926927 |
1176 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5743481 rs138926927 |
1176 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA378908821 rs1479416720 |
1177 | L>S | No |
ClinGen TOPMed gnomAD |
|
CA378908831 rs1178427950 |
1178 | M>T | No |
ClinGen gnomAD |
|
CA215777191 rs1026633461 |
1179 | E>D | No |
ClinGen gnomAD |
|
CA5743488 rs768132044 |
1195 | N>H | No |
ClinGen ExAC gnomAD |
|
rs761553028 CA5743490 |
1196 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA5743491 rs574978022 |
1196 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA215777192 rs952439430 |
1201 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA378909006 rs1486678915 |
1202 | N>S | No |
ClinGen gnomAD |
|
rs1216796366 CA378909010 |
1203 | V>M | No |
ClinGen gnomAD |
|
rs1457952619 CA378909020 |
1204 | L>P | No |
ClinGen TOPMed |
|
CA215777896 rs768874978 |
1211 | E>G | No |
ClinGen Ensembl |
|
rs1392282691 CA378909081 |
1211 | E>K | No |
ClinGen gnomAD |
|
CA5743504 rs780621285 |
1213 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs968604499 CA215777897 |
1214 | E>K | No |
ClinGen Ensembl |
|
CA378909110 rs1590794584 |
1215 | M>V | No |
ClinGen Ensembl |
|
CA5743505 rs748694096 |
1217 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378909155 rs1290336805 |
1219 | Y>C | No |
ClinGen gnomAD |
|
CA378909170 rs1355201550 |
1221 | Y>C | No |
ClinGen gnomAD |
|
rs1350780731 CA378909182 |
1223 | L>F | No |
ClinGen TOPMed |
|
rs1306649331 CA378909192 |
1224 | C>S | No |
ClinGen TOPMed gnomAD |
|
rs1408753376 CA378909201 |
1225 | D>G | No |
ClinGen TOPMed |
|
CA5743519 rs61758437 |
1231 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA215777998 rs200279056 |
1236 | A>V | No |
ClinGen gnomAD |
|
rs1248295074 CA378909315 |
1241 | L>R | No |
ClinGen TOPMed |
|
rs1428247782 CA378909317 |
1242 | L>F | No |
ClinGen gnomAD |
|
CA378909326 rs1403147569 |
1243 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA5743525 rs778383052 |
1246 | L>F | No |
ClinGen ExAC gnomAD |
|
rs370406091 CA5743526 |
1248 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
rs1202144671 CA378909358 |
1248 | K>R | No |
ClinGen TOPMed |
|
rs1299687177 CA378697163 |
1249 | W>R | No |
ClinGen TOPMed |
|
rs1055960911 CA215434374 |
1250 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA5743553 rs772155501 |
1252 | D>E | No |
ClinGen ExAC gnomAD |
|
CA378697264 rs1488794823 |
1254 | C>Y | No |
ClinGen TOPMed gnomAD |
|
CA5743554 rs773211951 |
1255 | V>M | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1256 | A>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1257 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1260 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs766579453 CA5743556 |
1260 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA378697355 rs375009537 |
1261 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs765684085 CA5743559 |
1261 | R>Q | Variant assessed as Somatic; 4.675e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs375009537 CA5743558 |
1261 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs183890235 CA378697376 |
1262 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5743560 rs753234622 |
1262 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751096233 CA5743563 |
1263 | G>E | No |
ClinGen ExAC gnomAD |
|
CA5743562 rs188270898 |
1263 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs553671666 CA378697430 |
1266 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5743564 rs553671666 |
1266 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA215434471 rs994557124 |
1268 | T>M | No |
ClinGen TOPMed gnomAD |
|
rs780721120 CA5743565 |
1270 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1274 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378697565 rs1457579230 |
1275 | Q>H | No |
ClinGen gnomAD |
|
rs1200189195 CA378697582 |
1277 | Y>C | No |
ClinGen gnomAD |
|
CA5743567 rs756000164 |
1278 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA215434498 rs780031433 |
1278 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1279 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1280 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378697645 rs1380553869 |
1282 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1276490876 CA378697664 |
1283 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1423545706 CA378697657 |
1283 | Y>H | No |
ClinGen gnomAD |
|
CA378697693 rs1392611088 |
1285 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs1405941293 CA378697734 |
1288 | K>E | No |
ClinGen gnomAD |
|
CA5743615 rs749625059 |
1289 | M>L | No |
ClinGen ExAC gnomAD |
|
CA378701089 rs1590910412 |
1291 | E>D | No |
ClinGen Ensembl |
|
CA5743616 rs768871901 |
1291 | E>V | No |
ClinGen ExAC gnomAD |
|
rs903019098 CA215445127 |
1293 | A>S | No |
ClinGen TOPMed |
|
TCGA novel | 1295 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs772769660 CA5743619 |
1296 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743618 rs762210154 |
1296 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378701249 rs1300667749 |
1298 | K>R | No |
ClinGen gnomAD |
|
CA5743621 rs760276699 |
1301 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1378722148 CA378701339 |
1301 | A>V | No |
ClinGen gnomAD |
|
rs759277250 CA5743625 |
1302 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753464561 CA5743623 |
1302 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 1304 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1456888349 CA378701399 |
1304 | Y>N | No |
ClinGen gnomAD |
|
CA378701479 rs1295776732 |
1306 | N>S | No |
ClinGen gnomAD |
|
CA5743627 rs61758438 |
1307 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5743628 rs777699040 |
1308 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1378665575 CA378701541 |
1308 | M>T | No |
ClinGen gnomAD |
|
CA215445152 rs926045680 |
1308 | M>V | No |
ClinGen TOPMed gnomAD |
|
rs1377766992 CA378701605 |
1310 | D>A | No |
ClinGen TOPMed |
|
rs1377766992 CA378701613 |
1310 | D>G | No |
ClinGen TOPMed |
|
CA5743630 rs756213333 |
1313 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA5743631 rs780218829 |
1313 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743633 rs768979955 |
1315 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1198103347 CA378701748 |
1315 | S>N | No |
ClinGen gnomAD |
|
rs557378130 CA5743634 |
1316 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1179477977 CA378701817 |
1317 | L>F | No |
ClinGen gnomAD |
|
CA5743649 rs771320376 |
1319 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1320 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378702364 rs754014975 |
1321 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743650 rs754014975 |
1321 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1321 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1303281071 CA378702443 |
1326 | E>* | No |
ClinGen gnomAD |
|
rs969991889 CA215445734 |
1327 | N>K | No |
ClinGen Ensembl |
|
CA5743653 rs748476214 |
1329 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1279978319 CA378702530 |
1330 | K>R | No |
ClinGen gnomAD |
|
rs1227205955 CA378702545 |
1332 | I>F | No |
ClinGen TOPMed |
|
CA5743657 rs771529880 |
1334 | P>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1334 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs745390687 CA5743659 |
1335 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743660 rs769279030 |
1336 | P>L | No |
ClinGen ExAC gnomAD |
|
CA378702642 rs769279030 |
1336 | P>R | No |
ClinGen ExAC gnomAD |
|
CA5743661 rs775236644 |
1337 | D>G | No |
ClinGen ExAC gnomAD |
|
CA378702650 rs1488151491 |
1337 | D>H | No |
ClinGen gnomAD |
|
CA5743663 rs763850565 |
1338 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA378702694 rs1172013849 |
1339 | F>L | No |
ClinGen gnomAD |
|
rs1403163031 CA378702703 |
1341 | V>I | No |
ClinGen gnomAD |
|
rs1171489658 CA378702742 |
1344 | Y>C | No |
ClinGen gnomAD |
|
rs767493420 CA5743666 |
1345 | G>R | No |
ClinGen ExAC gnomAD |
|
CA378702780 rs1176302935 |
1347 | G>A | No |
ClinGen TOPMed gnomAD |
|
rs1176302935 CA378702778 |
1347 | G>E | No |
ClinGen TOPMed gnomAD |
|
CA378702784 rs1590916250 |
1348 | F>V | No |
ClinGen Ensembl |
|
CA215445776 rs774670516 |
1349 | P>L | No |
ClinGen Ensembl |
|
TCGA novel | 1351 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs755108989 CA5743668 |
1353 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1293651177 CA378702836 |
1353 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1472361796 CA378703094 |
1354 | G>E | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1354 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs200738890 CA5743690 |
1356 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5743691 rs570650112 |
1359 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA378703126 rs1326738890 |
1359 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs751916779 CA5743692 |
1360 | R>* | No |
ClinGen ExAC gnomAD |
|
CA378703134 rs1333578550 |
1360 | R>Q | No |
ClinGen gnomAD |
|
CA378703146 rs1489882175 |
1362 | K>R | No |
ClinGen TOPMed |
|
TCGA novel | 1363 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378703176 rs1234426888 |
1366 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA378703177 rs1256927561 |
1366 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA5743695 rs750915688 |
1367 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs781447632 CA5743694 |
1367 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1250824243 CA378703201 |
1370 | F>L | No |
ClinGen gnomAD |
|
CA5743696 rs756633592 |
1372 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA5743697 rs779535490 |
1372 | A>V | No |
ClinGen ExAC gnomAD |
|
CA378703221 rs1473117477 |
1373 | R>Q | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1373 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA215447446 rs539143909 |
1378 | F>S | No |
ClinGen 1000Genomes |
|
CA378703265 rs1169845204 |
1380 | N>D | No |
ClinGen gnomAD |
|
rs778556643 CA378703272 |
1381 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743700 rs778556643 |
1381 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA5743702 rs771871044 |
1382 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA215447453 rs940501936 |
1383 | K>E | No |
ClinGen TOPMed |
|
CA378703316 rs1395598829 |
1387 | T>P | No |
ClinGen gnomAD |
|
rs760648165 CA5743704 |
1391 | G>A | No |
ClinGen ExAC gnomAD |
|
rs760648165 CA378703342 |
1391 | G>V | No |
ClinGen ExAC gnomAD |
|
CA5743707 rs763142156 |
1392 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs543463732 CA378703351 |
1393 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743709 rs543463732 |
1393 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743710 rs761987434 |
1394 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs113965990 CA5743711 |
1396 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1485858176 CA378703433 |
1398 | P>S | No |
ClinGen gnomAD |
|
rs759675258 CA378703471 |
1400 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743727 rs768831824 |
1401 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA5743726 rs768831824 |
1401 | Y>F | No |
ClinGen ExAC gnomAD |
|
CA5743728 rs762086660 |
1403 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378703648 rs1181795810 |
1409 | P>S | No |
ClinGen gnomAD |
|
rs773566920 CA5743730 |
1412 | D>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1414 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378703734 rs1014668292 |
1415 | P>A | No |
ClinGen TOPMed gnomAD |
|
rs1359007352 CA378703737 |
1415 | P>L | No |
ClinGen gnomAD |
|
rs1014668292 CA215447516 |
1415 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA378703731 rs1014668292 |
1415 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA378703784 rs754314509 |
1419 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754314509 CA5743733 |
1419 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1385068190 CA378703802 |
1421 | V>M | No |
ClinGen Ensembl |
|
rs755529954 CA5743734 |
1422 | S>P | No |
ClinGen ExAC gnomAD |
|
CA378703832 rs1384588200 |
1423 | E>A | No |
ClinGen gnomAD |
|
CA5743735 rs764713332 |
1424 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs779179594 CA215447517 |
1424 | Q>H | No |
ClinGen Ensembl |
|
CA378703840 rs764713332 |
1424 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs752217390 CA5743736 |
1426 | V>I | No |
ClinGen ExAC gnomAD |
|
CA378703885 rs1238966148 |
1427 | S>C | No |
ClinGen gnomAD |
|
TCGA novel | 1428 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1431 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1433 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs777958830 CA5743764 |
1433 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA5743765 rs747221336 |
1434 | V>F | No |
ClinGen ExAC gnomAD |
|
CA5743766 rs747221336 |
1434 | V>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1436 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs932923212 CA378704132 |
1436 | R>G | No |
ClinGen TOPMed |
|
rs1050075199 CA215448062 |
1436 | R>Q | No |
ClinGen gnomAD |
|
CA378704139 rs1199952429 |
1437 | F>Y | No |
ClinGen TOPMed |
|
rs756231427 CA215448063 |
1439 | Y>* | No |
ClinGen Ensembl |
|
rs776914792 CA5743767 |
1441 | R>Q | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1441 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5743769 rs367916159 |
1443 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
rs759911543 CA5743768 |
1443 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs527767220 CA5743771 |
1444 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1590941742 CA378704201 |
1447 | E>A | No |
ClinGen Ensembl |
|
TCGA novel | 1448 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1376673571 CA378704217 |
1449 | N>T | No |
ClinGen gnomAD |
|
rs370398125 CA5743772 |
1450 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5743774 rs761487030 |
1451 | D>E | No |
ClinGen ExAC gnomAD |
|
CA5743773 rs751178935 |
1451 | D>G | No |
ClinGen ExAC gnomAD |
|
CA215448087 rs777850348 |
1453 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA5743775 rs200693040 |
1455 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA5743802 rs772966246 |
1456 | N>T | No |
ClinGen ExAC gnomAD |
|
rs760423213 CA5743803 |
1459 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369679951 CA5743805 |
1460 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1463 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5743807 rs765174319 |
1463 | I>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1463 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA215454612 rs926802049 |
1465 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA5743809 rs757362875 |
1465 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378704577 rs757362875 |
1465 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746070886 CA5743811 |
1466 | T>A | No |
ClinGen ExAC gnomAD |
|
rs766952825 CA215454634 |
1466 | T>I | No |
ClinGen Ensembl |
|
CA215454639 rs766952825 |
1466 | T>N | No |
ClinGen Ensembl |
|
TCGA novel | 1477 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5743814 rs780214260 |
1480 | K>N | No |
ClinGen ExAC gnomAD |
|
CA5743815 rs749672814 |
1481 | S>F | No |
ClinGen ExAC gnomAD |
|
rs914199655 CA215454656 |
1482 | V>F | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1482 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs370127033 | 1485 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs368027943 CA5743842 |
1485 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
rs571507465 CA5743844 |
1486 | E>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 1486 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1419055388 CA378705047 |
1488 | S>N | No |
ClinGen TOPMed |
|
rs762807328 CA5743846 |
1492 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs2229600 CA215456491 |
1494 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA215456481 rs1013682202 |
1494 | I>T | No |
ClinGen TOPMed gnomAD |
|
rs760837044 CA215456497 |
1495 | E>* | No |
ClinGen ExAC gnomAD |
|
CA5743849 rs760837044 |
1495 | E>K | No |
ClinGen ExAC gnomAD |
|
CA378705100 rs1213319025 |
1496 | T>I | No |
ClinGen TOPMed |
|
CA5743850 rs766407265 |
1498 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA5743852 rs557337834 |
1500 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA378705128 rs1197163041 |
1501 | N>D | No |
ClinGen gnomAD |
|
CA5743854 rs753116576 |
1501 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743856 rs369052092 |
1502 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA378705178 rs1404175202 |
1507 | M>I | No |
ClinGen Ensembl |
|
TCGA novel | 1507 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378705172 rs1259544454 |
1507 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA378705181 rs1328859274 |
1508 | V>M | No |
ClinGen TOPMed |
|
CA215456546 rs777096693 |
1511 | H>Q | No |
ClinGen Ensembl |
|
CA378705232 rs1188826384 |
1515 | P>T | No |
ClinGen gnomAD |
|
rs377456428 CA5743858 |
1516 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1460702393 CA378705239 |
1516 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA5743859 rs780618907 |
1517 | L>R | No |
ClinGen ExAC gnomAD |
|
rs1399534546 CA378705253 |
1518 | P>L | No |
ClinGen gnomAD |
|
CA378705255 rs1328402150 |
1519 | I>V | No |
ClinGen TOPMed |
|
CA5743861 rs769437313 |
1520 | N>S | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs369947359 CA215456574 |
1521 | P>L | No |
ClinGen ESP TOPMed |
|
rs774313094 CA5743865 |
1524 | M>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1525 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs185222787 CA5743868 |
1527 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1533 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378705361 rs1485989232 |
1535 | M>T | No |
ClinGen TOPMed gnomAD |
|
CA5743872 rs758865912 |
1538 | F>L | No |
ClinGen ExAC |
|
rs370120157 CA5743874 |
1539 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1345590772 CA378705401 |
1541 | Y>C | No |
ClinGen TOPMed |
|
rs1373864109 CA378705405 |
1542 | E>K | Variant assessed as Somatic; 4.718e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA5743876 rs780752467 |
1543 | K>E | No |
ClinGen ExAC gnomAD |
|
rs749893339 CA5743898 |
1544 | A>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1545 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1033275695 CA215457421 |
1547 | T>I | No |
ClinGen gnomAD |
|
CA378705455 rs1033275695 |
1547 | T>R | No |
ClinGen gnomAD |
|
rs779586829 CA5743900 |
1547 | T>S | No |
ClinGen ExAC gnomAD |
|
rs1445787407 CA378705457 |
1548 | D>N | No |
ClinGen gnomAD |
|
CA378705464 rs748922919 |
1549 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743902 rs754653090 |
1549 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748922919 CA5743901 |
1549 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1239652909 CA378705473 |
1550 | Y>* | No |
ClinGen gnomAD |
|
rs775545896 CA215457428 |
1550 | Y>F | No |
ClinGen Ensembl |
|
rs1261428829 CA378705477 |
1551 | L>P | No |
ClinGen gnomAD |
|
CA5743904 rs41282902 |
1553 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA378705495 rs1255143724 |
1554 | H>D | No |
ClinGen gnomAD |
|
rs771997714 CA5743905 |
1555 | P>S | No |
ClinGen ExAC gnomAD |
|
rs976087948 CA215457450 |
1557 | A>S | No |
ClinGen gnomAD |
|
rs1421443887 CA378705524 |
1558 | H>R | No |
ClinGen gnomAD |
|
rs1417724348 CA378705532 |
1559 | E>G | No |
ClinGen gnomAD |
|
rs1459433632 CA378705543 |
1560 | K>N | No |
ClinGen gnomAD |
|
CA215457460 rs377395109 |
1561 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA378705547 rs1268682204 |
1561 | I>N | No |
ClinGen TOPMed |
|
CA5743909 rs775773512 |
1562 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743910 rs370441071 |
1565 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375937964 CA215457482 |
1565 | K>R | No |
ClinGen ESP gnomAD |
|
rs1311957284 CA378705580 |
1566 | D>G | No |
ClinGen gnomAD |
|
rs774725509 CA5743912 |
1566 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378705588 rs1165198053 |
1567 | L>Q | No |
ClinGen TOPMed |
|
rs1353427528 CA378705591 |
1568 | I>F | No |
ClinGen gnomAD |
|
CA378705595 rs1282872622 |
1568 | I>M | No |
ClinGen TOPMed gnomAD |
|
CA378705593 rs1231536960 |
1568 | I>T | No |
ClinGen TOPMed gnomAD |
|
rs1275124433 CA378705599 |
1569 | A>G | No |
ClinGen TOPMed gnomAD |
|
rs912863246 CA215457483 |
1569 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA378705600 rs1275124433 |
1569 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1335797705 CA378705607 |
1570 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
TCGA novel | 1570 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs375042364 CA5743926 |
1573 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs771062074 CA5743927 |
1574 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378705661 rs1436543387 |
1576 | A>V | No |
ClinGen gnomAD |
|
CA5743929 rs368905884 |
1577 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5743930 rs371341893 |
1579 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1364431386 CA378705705 |
1583 | G>* | No |
ClinGen gnomAD |
|
CA378705707 rs1229385466 |
1583 | G>A | No |
ClinGen gnomAD |
|
CA378705709 rs1346206524 |
1584 | D>N | No |
ClinGen gnomAD |
|
TCGA novel | 1585 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378705718 rs1236890691 |
1585 | K>E | No |
ClinGen gnomAD |
|
CA378705735 rs1386524728 |
1587 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA378705741 rs1361816231 |
1588 | E>G | No |
ClinGen TOPMed |
|
CA5743933 rs772411152 |
1589 | A>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1590 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378705755 rs1243334883 |
1591 | R>G | No |
ClinGen gnomAD |
|
CA5743934 rs773632498 |
1592 | P>L | No |
ClinGen ExAC gnomAD |
|
CA5743935 rs773632498 |
1592 | P>R | No |
ClinGen ExAC gnomAD |
|
rs377304209 CA5743938 |
1595 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
CA215461572 rs549869641 |
1596 | R>S | No |
ClinGen 1000Genomes |
|
rs1173969057 CA378705801 |
1597 | M>I | No |
ClinGen gnomAD |
|
CA5743939 rs192122020 |
1598 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs752272582 CA5743940 |
1599 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1157084165 CA378705813 |
1599 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs777709012 CA5743942 |
1602 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1212201667 CA378705842 |
1603 | Q>L | No |
ClinGen TOPMed |
|
CA378705874 rs1368979040 |
1607 | K>N | No |
ClinGen gnomAD |
|
CA378705895 rs1486966000 |
1610 | K>R | No |
ClinGen TOPMed |
|
TCGA novel | 1612 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs745854253 CA5743946 |
1613 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743948 rs779105233 |
1614 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1354875886 CA378705925 |
1615 | R>* | No |
ClinGen TOPMed |
|
rs748312033 CA5743949 |
1615 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs773506065 CA5743951 |
1617 | M>L | No |
ClinGen ExAC gnomAD |
|
CA5743975 rs774808081 |
1620 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378705970 rs1290955727 |
1620 | S>T | No |
ClinGen gnomAD |
|
rs559196315 CA215468469 |
1622 | D>E | No |
ClinGen Ensembl |
|
rs1451999504 CA378705982 |
1622 | D>G | No |
ClinGen TOPMed |
|
rs762578228 CA5743976 |
1622 | D>H | No |
ClinGen ExAC gnomAD |
|
CA378705989 rs1244819995 |
1623 | D>G | No |
ClinGen gnomAD |
|
rs1565088975 CA378705985 |
1623 | D>N | No |
ClinGen Ensembl |
|
rs1244819995 CA378705990 |
1623 | D>V | No |
ClinGen gnomAD |
|
CA378706023 rs1336971745 |
1628 | R>C | No |
ClinGen gnomAD |
|
rs774121100 CA5743978 |
1628 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378706024 rs774121100 |
1628 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1485334624 CA378706031 |
1629 | P>L | No |
ClinGen gnomAD |
|
CA5743983 rs755946295 |
1630 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743982 rs755946295 |
1630 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750234584 CA5743981 |
1630 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378706034 rs1591041266 |
1631 | S>A | No |
ClinGen Ensembl |
|
CA378706044 rs1444218092 |
1632 | M>T | No |
ClinGen gnomAD |
|
CA378706041 rs1565089031 |
1632 | M>V | No |
ClinGen Ensembl |
|
CA378706052 rs1591041338 |
1633 | V>G | No |
ClinGen Ensembl |
|
CA5743984 rs542877171 |
1633 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs542877171 CA5743985 |
1633 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs374682976 CA5743987 |
1634 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs777880965 CA5743986 |
1634 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757545054 CA5743988 |
1637 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5743990 rs746260898 |
1641 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs886478094 CA215468545 |
1641 | S>L | No |
ClinGen Ensembl |
|
rs571051175 CA215468547 |
1643 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs776099873 CA5743992 |
1643 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA215468587 rs561000918 |
1651 | S>F | No |
ClinGen 1000Genomes TOPMed |
|
rs368031419 CA5743998 |
1655 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA378706185 rs753753747 |
1656 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5744000 rs766127221 |
1656 | D>H | No |
ClinGen ExAC gnomAD |
|
CA5744002 rs754968178 |
1657 | S>N | No |
ClinGen ExAC gnomAD |
|
CA378706196 rs1379145417 |
1658 | T>N | No |
ClinGen TOPMed |
|
rs764157392 CA5744003 |
1660 | S>P | No |
ClinGen ExAC gnomAD |
|
CA378706210 rs1190718970 |
1661 | R>G | No |
ClinGen gnomAD |
|
CA378706214 rs1248828022 |
1661 | R>I | No |
ClinGen gnomAD |
|
rs1248828022 CA378706212 |
1661 | R>K | No |
ClinGen gnomAD |
|
rs756475538 | 1665 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs750717801 CA5744007 |
1665 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378706244 rs1206625898 |
1666 | G>W | No |
ClinGen TOPMed |
|
CA215473221 rs886680655 |
1668 | A>P | No |
ClinGen TOPMed gnomAD |
|
rs1337389584 CA378706597 |
1668 | A>V | No |
ClinGen gnomAD |
|
CA378706603 rs1591064187 |
1669 | L>R | No |
ClinGen Ensembl |
|
rs1230384056 CA378706606 |
1670 | E>* | No |
ClinGen gnomAD |
|
CA378706614 rs1466809357 |
1671 | P>S | No |
ClinGen gnomAD |
|
CA215473223 rs575108104 |
1674 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA378706629 rs575108104 |
1674 | P>T | No |
ClinGen gnomAD |
|
CA5744022 rs765215139 |
1678 | H>D | No |
ClinGen ExAC gnomAD |
|
CA378706661 rs1179223260 |
1678 | H>P | No |
ClinGen gnomAD |
|
CA378706660 rs765215139 |
1678 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs555318752 CA215473241 |
1679 | S>A | No |
ClinGen Ensembl |
|
CA378706677 rs372787583 |
1680 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1212278173 CA378706674 |
1680 | R>T | No |
ClinGen TOPMed |
|
CA378706706 rs1013901279 |
1684 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA5744024 rs375994214 |
1684 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1317775622 CA378706708 |
1685 | L>V | No |
ClinGen TOPMed |
|
rs1182341810 CA378706716 |
1686 | D>G | No |
ClinGen gnomAD |
|
CA378706743 rs1416493583 |
1689 | D>E | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1689 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378706774 rs1474043534 |
1694 | K>E | No |
ClinGen gnomAD |
|
CA215473282 rs78422369 |
1696 | D>E | No |
ClinGen Ensembl |
|
rs1051019 CA378706821 |
1700 | E>* | No |
ClinGen gnomAD |
|
rs1372395240 CA378706824 |
1700 | E>G | No |
ClinGen TOPMed gnomAD |
|
rs1051019 CA215473309 |
1700 | E>K | No |
ClinGen gnomAD |
|
CA378706828 rs1410338574 |
1701 | K>E | No |
ClinGen gnomAD |
|
TCGA novel | 1702 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378706839 rs1308759525 |
1702 | R>K | No |
ClinGen gnomAD |
|
CA5744028 rs780565089 |
1704 | S>I | No |
ClinGen ExAC gnomAD |
|
CA378706879 rs1315130051 |
1707 | Q>H | No |
ClinGen gnomAD |
|
CA5744031 rs779605428 |
1709 | I>T | No |
ClinGen ExAC gnomAD |
|
rs755521993 CA5744030 |
1709 | I>V | No |
ClinGen ExAC gnomAD |
|
CA378706901 rs748484734 |
1710 | F>L | No |
ClinGen TOPMed gnomAD |
|
rs748634880 CA5744032 |
1712 | K>E | No |
ClinGen ExAC gnomAD |
|
CA5744033 rs540102365 |
1713 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1591064679 CA378706938 |
1715 | K>N | No |
ClinGen Ensembl |
|
rs772398292 CA5744034 |
1716 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5744035 rs551703160 |
1717 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 1717 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378706950 rs1183031479 |
1718 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs770554319 CA5744036 |
1719 | I>V | No |
ClinGen ExAC gnomAD |
|
rs867511436 CA215473358 |
1720 | S>F | No |
ClinGen gnomAD |
|
rs867511436 CA378706967 |
1720 | S>Y | No |
ClinGen gnomAD |
|
rs1189253467 CA378706973 |
1721 | L>P | No |
ClinGen TOPMed |
|
CA215473369 rs911868740 |
1722 | Q>H | No |
ClinGen Ensembl |
|
CA215473364 rs781248318 |
1722 | Q>L | No |
ClinGen Ensembl |
|
CA378707006 rs1168119339 |
1726 | A>G | No |
ClinGen gnomAD |
|
CA215473372 rs377511922 |
1726 | A>T | No |
ClinGen ESP TOPMed |
|
CA215473374 rs79347044 |
1727 | V>G | No |
ClinGen Ensembl |
|
TCGA novel | 1729 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5744037 rs369249792 |
1730 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs899262328 CA215473409 |
1731 | E>K | No |
ClinGen Ensembl |
|
CA5744039 rs34175019 |
1732 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1279908459 CA378707055 |
1733 | I>L | No |
ClinGen gnomAD |
|
CA378707054 rs1279908459 |
1733 | I>V | No |
ClinGen gnomAD |
|
rs1212969271 CA378707073 |
1735 | P>L | No |
ClinGen gnomAD |
|
CA378707070 rs1315839127 |
1735 | P>S | No |
ClinGen gnomAD |
|
CA378707080 rs1465060783 |
1737 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA5744059 rs768536912 |
1737 | R>W | Variant assessed as Somatic; 5.558e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs920786835 CA215477688 |
1739 | Q>H | No |
ClinGen Ensembl |
|
CA5744060 rs201179287 |
1741 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201179287 CA378707107 |
1741 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1741 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA378707112 rs1478989404 |
1742 | K>R | No |
ClinGen gnomAD |
|
rs1191730858 CA378707119 |
1743 | S>N | No |
ClinGen gnomAD |
|
CA378707144 CA378707145 rs1407095341 |
1746 | M>I | No |
ClinGen gnomAD |
|
rs1458588876 CA378707151 |
1747 | N>S | No |
ClinGen TOPMed |
|
rs201973019 CA5744064 |
1748 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1391185202 CA378707164 |
1749 | I>T | No |
ClinGen gnomAD |
|
rs1457947484 CA378707174 |
1750 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs765629500 CA5744065 |
1751 | S>G | No |
ClinGen ExAC gnomAD |
|
CA5744067 rs143736792 |
1751 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1315396631 CA378707198 |
1752 | E>D | No |
ClinGen TOPMed |
|
rs368735026 CA5744068 |
1752 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
CA5744069 rs751046805 |
1754 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5744070 rs756712008 |
1754 | R>H | No |
ClinGen ExAC gnomAD |
|
rs756712008 CA5744071 |
1754 | R>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1755 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs41314432 CA5744072 |
1756 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs774014626 CA5744074 |
1757 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA215477803 rs950666492 |
1758 | S>F | No |
ClinGen TOPMed gnomAD |
|
CA378707258 rs1453133145 |
1759 | P>S | No |
ClinGen gnomAD |
|
rs566240366 CA5744076 |
1760 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 1760 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs566240366 CA378707269 |
1760 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs748120235 CA5744078 |
1761 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5744079 rs771076657 |
1762 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA215477832 rs956007958 |
1762 | P>S | No |
ClinGen Ensembl |
|
rs373740290 CA5744081 |
1765 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5744082 rs765612707 |
1768 | P>H | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1768 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5744085 rs764547171 |
1769 | P>L | No |
ClinGen ExAC gnomAD |
|
CA5744084 rs763264898 |
1769 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751958118 CA5744086 |
1770 | P>A | No |
ClinGen ExAC gnomAD |
|
rs1350607994 CA378707377 |
1772 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs1232102829 CA378707384 |
1773 | P>L | No |
ClinGen gnomAD |
|
rs767014234 CA5744088 |
1776 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1777 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA215477877 rs975243988 |
1778 | S>G | No |
ClinGen Ensembl |
|
rs749997656 CA5744089 |
1778 | S>N | No |
ClinGen ExAC gnomAD |
|
rs755744605 CA5744090 |
1778 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779615103 CA5744091 |
1779 | F>I | No |
ClinGen ExAC gnomAD |
|
rs372329635 CA215477890 |
1781 | M>L | No |
ClinGen TOPMed |
|
CA5744092 rs377449039 |
1782 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
rs1483429564 CA378707503 |
1783 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
TCGA novel | 1783 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA5744094 rs778782461 |
1784 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1230942034 CA378706262 |
1784 | S>I | No |
ClinGen gnomAD |
|
TCGA novel | 1786 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs774680101 CA5744122 |
1786 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA5744123 rs748554704 |
1786 | E>V | No |
ClinGen ExAC gnomAD |
|
rs377311503 CA5744125 |
1789 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs368255250 CA5744126 |
1789 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
rs765740645 CA5744127 |
1791 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA378706312 rs1197399326 |
1792 | G>E | No |
ClinGen TOPMed gnomAD |
|
CA5744129 VAR_059971 rs869801 |
1793 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs375977899 CA5744130 |
1793 | A>V | Variant assessed as Somatic; 0.0001402 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs764000818 CA5744133 |
1795 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1256993806 CA378706332 |
1796 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA378706344 CA378706343 rs1384819860 |
1797 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs757219377 CA5744135 |
1797 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1798 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1303338144 CA378706356 |
1799 | P>L | No |
ClinGen gnomAD |
|
rs779989177 CA5744136 |
1801 | P>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1801 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA215449857 rs770399255 |
1801 | P>R | No |
ClinGen Ensembl |
|
TCGA novel | 1801 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1234141477 CA378706375 |
1803 | P>H | No |
ClinGen gnomAD |
|
TCGA novel | 1803 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1803 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs749438796 CA5744137 |
1804 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1327403817 CA378706387 |
1805 | K>R | No |
ClinGen gnomAD |
|
CA378706400 rs1210855739 |
1807 | S>N | No |
ClinGen gnomAD |
|
CA378706404 rs755126443 |
1807 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779069875 CA378706405 |
1808 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779069875 CA5744139 |
1808 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA5744140 rs748393302 |
1809 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA5744141 rs535574050 |
1810 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs773571301 CA5744142 |
1811 | Y>D | No |
ClinGen ExAC gnomAD |
|
rs201376871 CA5744143 |
1812 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5744144 rs771525670 |
1816 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA5744145 rs775981682 |
1819 | D>A | No |
ClinGen ExAC gnomAD |
|
CA5744146 rs759123439 |
1820 | L>F | No |
ClinGen ExAC gnomAD |
|
CA378706497 rs1445764860 |
1821 | L>P | No |
ClinGen gnomAD |
|
CA378706500 rs1391437088 |
1822 | G>C | No |
ClinGen gnomAD |
|
CA215449906 rs750265827 |
1823 | S>L | No |
ClinGen TOPMed gnomAD |
|
CA5744148 rs775231422 |
1824 | P>R | No |
ClinGen ExAC gnomAD |
|
rs1230242015 CA378706512 |
1824 | P>S | No |
ClinGen gnomAD |
|
CA5744149 rs762705029 |
1825 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1591101195 CA378706525 |
1826 | P>L | No |
ClinGen Ensembl |
|
rs1395832222 CA378706531 |
1827 | P>L | No |
ClinGen TOPMed |
|
rs757123723 CA5744152 |
1828 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378706533 rs751435075 |
1828 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751435075 CA5744151 |
1828 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA215449936 rs1051040175 |
1829 | P>L | No |
ClinGen gnomAD |
|
CA215449952 rs889763172 |
1830 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1483759886 CA378706549 |
1831 | P>L | No |
ClinGen gnomAD |
|
rs1179191359 CA378706562 |
1833 | Q>* | No |
ClinGen TOPMed |
|
rs1179191359 CA378706561 |
1833 | Q>E | No |
ClinGen TOPMed |
|
CA378706566 rs1375745164 |
1833 | Q>H | No |
ClinGen gnomAD |
|
CA5744157 rs778979577 |
1834 | R>G | No |
ClinGen ExAC gnomAD |
|
CA378706570 rs1166717804 |
1834 | R>T | No |
ClinGen gnomAD |
|
CA5744177 rs773681145 |
1840 | L>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1841 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1490298263 CA378707273 |
1841 | P>T | No |
ClinGen TOPMed |
|
rs1295844014 CA378707294 |
1842 | S>N | No |
ClinGen gnomAD |
|
rs1409926515 CA378707323 |
1843 | K>N | No |
ClinGen gnomAD |
|
CA378707320 rs1368035771 |
1843 | K>R | No |
ClinGen gnomAD |
|
rs765297075 CA5744178 |
1845 | P>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1845 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs868636153 CA215451429 |
1847 | P>L | No |
ClinGen Ensembl |
|
TCGA novel | 1847 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs778097474 CA5744181 |
1849 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA378707413 rs1295023705 |
1849 | P>L | No |
ClinGen TOPMed |
|
TCGA novel | 1849 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA215451432 rs778097474 |
1849 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1851 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs751759224 CA5744182 |
1852 | T>A | No |
ClinGen ExAC gnomAD |
|
rs781421126 CA5744184 |
1854 | R>C | No |
ClinGen ExAC gnomAD |
|
CA5744186 rs373416529 |
1854 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5744185 rs373416529 |
1854 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA378707517 rs2229603 |
1857 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA378707515 rs2229603 |
1857 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5744188 rs2229603 |
1857 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5744189 rs369390395 |
1858 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA378707527 rs369390395 |
1858 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA378707534 rs1407193831 |
1860 | D>N | No |
ClinGen gnomAD |
|
rs199537179 CA215451458 |
1862 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA5744193 rs377121875 |
1863 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA378707557 rs1391327078 |
1863 | I>T | No |
ClinGen gnomAD |
|
CA5744194 rs370457490 |
1864 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5744195 rs370457490 |
1864 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA5744196 rs752741957 |
1865 | Q>* | No |
ClinGen ExAC |
|
rs1366107215 CA378707566 |
1865 | Q>R | No |
ClinGen gnomAD |
|
TCGA novel | 1866 | Q>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q14185
9 regional properties for Q14185
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | SH3 domain | 9 - 70 | IPR001452 |
domain | C2 DOCK-type domain | 421 - 617 | IPR027007 |
domain | DOCKER domain | 1207 - 1617 | IPR027357 |
domain | Dedicator of cytokinesis, N-terminal domain | 73 - 416 | IPR032376 |
domain | DOCKER, Lobe A | 1202 - 1330 | IPR046769 |
domain | DOCKER, Lobe B | 1388 - 1469 | IPR046770 |
domain | DOCKER, Lobe C | 1508 - 1610 | IPR046773 |
domain | Dedicator of cytokinesis protein 1/5, SH3 domain | 13 - 68 | IPR047025 |
domain | Dedicator of cytokinesis protein 1, C2 domain | 424 - 619 | IPR047026 |
6 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
guanyl-nucleotide exchange factor complex | A protein complex that stimulates the exchange of guanyl nucleotides associated with a GTPase. |
nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
Name | Definition |
---|---|
GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
SH3 domain binding | Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins. |
small GTPase binding | Binding to a small monomeric GTPase. |
9 GO annotations of biological process
Name | Definition |
---|---|
apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
integrin-mediated signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
myoblast fusion | A process in which non-proliferating myoblasts fuse to existing fibers or to myotubes to form new fibers. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. |
phagocytosis, engulfment | The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis. |
positive regulation of epithelial cell migration | Any process that activates or increases the frequency, rate or extent of epithelial cell migration. |
positive regulation of substrate adhesion-dependent cell spreading | Any process that activates or increases the frequency, rate or extent of substrate adhesion-dependent cell spreading. |
signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
small GTPase mediated signal transduction | The series of molecular signals in which a small monomeric GTPase relays a signal. |
5 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q9H7D0 | DOCK5 | Dedicator of cytokinesis protein 5 | Homo sapiens (Human) | PR |
Q92608 | DOCK2 | Dedicator of cytokinesis protein 2 | Homo sapiens (Human) | PR |
Q8CIQ7 | Dock3 | Dedicator of cytokinesis protein 3 | Mus musculus (Mouse) | PR |
Q8C3J5 | Dock2 | Dedicator of cytokinesis protein 2 | Mus musculus (Mouse) | PR |
Q8BUR4 | Dock1 | Dedicator of cytokinesis protein 1 | Mus musculus (Mouse) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MTRWVPTKRE | EKYGVAFYNY | DARGADELSL | QIGDTVHILE | TYEGWYRGYT | LRKKSKKGIF |
70 | 80 | 90 | 100 | 110 | 120 |
PASYIHLKEA | IVEGKGQHET | VIPGDLPLIQ | EVTTTLREWS | TIWRQLYVQD | NREMFRSVRH |
130 | 140 | 150 | 160 | 170 | 180 |
MIYDLIEWRS | QILSGTLPQD | ELKELKKKVT | AKIDYGNRIL | DLDLVVRDED | GNILDPELTS |
190 | 200 | 210 | 220 | 230 | 240 |
TISLFRAHEI | ASKQVEERLQ | EEKSQKQNID | INRQAKFAAT | PSLALFVNLK | NVVCKIGEDA |
250 | 260 | 270 | 280 | 290 | 300 |
EVLMSLYDPV | ESKFISENYL | VRWSSSGLPK | DIDRLHNLRA | VFTDLGSKDL | KREKISFVCQ |
310 | 320 | 330 | 340 | 350 | 360 |
IVRVGRMELR | DNNTRKLTSG | LRRPFGVAVM | DVTDIINGKV | DDEDKQHFIP | FQPVAGENDF |
370 | 380 | 390 | 400 | 410 | 420 |
LQTVINKVIA | AKEVNHKGQG | LWVTLKLLPG | DIHQIRKEFP | HLVDRTTAVA | RKTGFPEIIM |
430 | 440 | 450 | 460 | 470 | 480 |
PGDVRNDIYV | TLVQGDFDKG | SKTTAKNVEV | TVSVYDEDGK | RLEHVIFPGA | GDEAISEYKS |
490 | 500 | 510 | 520 | 530 | 540 |
VIYYQVKQPR | WFETVKVAIP | IEDVNRSHLR | FTFRHRSSQD | SKDKSEKIFA | LAFVKLMRYD |
550 | 560 | 570 | 580 | 590 | 600 |
GTTLRDGEHD | LIVYKAEAKK | LEDAATYLSL | PSTKAELEEK | GHSATGKSMQ | SLGSCTISKD |
610 | 620 | 630 | 640 | 650 | 660 |
SFQISTLVCS | TKLTQNVDLL | GLLKWRSNTS | LLQQNLRQLM | KVDGGEVVKF | LQDTLDALFN |
670 | 680 | 690 | 700 | 710 | 720 |
IMMENSESET | FDTLVFDALV | FIIGLIADRK | FQHFNPVLET | YIKKHFSATL | AYTKLTKVLK |
730 | 740 | 750 | 760 | 770 | 780 |
NYVDGAEKPG | VNEQLYKAMK | ALESIFKFIV | RSRILFNQLY | ENKGEADFVE | SLLQLFRSIN |
790 | 800 | 810 | 820 | 830 | 840 |
DMMSSMSDQT | VRVKGAALKY | LPTIVNDVKL | VFDPKELSKM | FTEFILNVPM | GLLTIQKLYC |
850 | 860 | 870 | 880 | 890 | 900 |
LIEIVHSDLF | TQHDCREILL | PMMTDQLKYH | LERQEDLEAC | CQLLSHILEV | LYRKDVGPTQ |
910 | 920 | 930 | 940 | 950 | 960 |
RHVQIIMEKL | LRTVNRTVIS | MGRDSELIGN | FVACMTAILR | QMEDYHYAHL | IKTFGKMRTD |
970 | 980 | 990 | 1000 | 1010 | 1020 |
VVDFLMETFI | MFKNLIGKNV | YPFDWVIMNM | VQNKVFLRAI | NQYADMLNKK | FLDQANFELQ |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
LWNNYFHLAV | AFLTQESLQL | ENFSSAKRAK | ILNKYGDMRR | QIGFEIRDMW | YNLGQHKIKF |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
IPEMVGPILE | MTLIPETELR | KATIPIFFDM | MQCEFHSTRS | FQMFENEIIT | KLDHEVEGGR |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
GDEQYKVLFD | KILLEHCRKH | KYLAKTGETF | VKLVVRLMER | LLDYRTIMHD | ENKENRMSCT |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
VNVLNFYKEI | EREEMYIRYL | YKLCDLHKEC | DNYTEAAYTL | LLHAKLLKWS | EDVCVAHLTQ |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
RDGYQATTQG | QLKEQLYQEI | IHYFDKGKMW | EEAIALGKEL | AEQYENEMFD | YEQLSELLKK |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
QAQFYENIVK | VIRPKPDYFA | VGYYGQGFPT | FLRGKVFIYR | GKEYERREDF | EARLLTQFPN |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
AEKMKTTSPP | GDDIKNSPGQ | YIQCFTVKPK | LDLPPKFHRP | VSEQIVSFYR | VNEVQRFEYS |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
RPIRKGEKNP | DNEFANMWIE | RTIYTTAYKL | PGILRWFEVK | SVFMVEISPL | ENAIETMQLT |
1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
NDKINSMVQQ | HLDDPSLPIN | PLSMLLNGIV | DPAVMGGFAN | YEKAFFTDRY | LQEHPEAHEK |
1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
IEKLKDLIAW | QIPFLAEGIR | IHGDKVTEAL | RPFHERMEAC | FKQLKEKVEK | EYGVRIMPSS |
1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
LDDRRGSRPR | SMVRSFTMPS | SSRPLSVASV | SSLSSDSTPS | RPGSDGFALE | PLLPKKMHSR |
1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
SQDKLDKDDL | EKEKKDKKKE | KRNSKHQEIF | EKEFKPTDIS | LQQSEAVILS | ETISPLRPQR |
1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
PKSQVMNVIG | SERRFSVSPS | SPSSQQTPPP | VTPRAKLSFS | MQSSLELNGM | TGADVADVPP |
1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
PLPLKGSVAD | YGNLMENQDL | LGSPTPPPPP | PHQRHLPPPL | PSKTPPPPPP | KTTRKQASVD |
SGIVQ |