Q8N1F8
PR
Gene name |
STK11IP (KIAA1898, LIP1, LKB1IP, STK11IP1) |
Protein name |
Serine/threonine-protein kinase 11-interacting protein |
Names |
LKB1-interacting protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:114790 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8N1F8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N1F8-F1 | Predicted | AlphaFoldDB |
1005 variants for Q8N1F8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1276005370 CA350773873 |
2 | T>M | No |
ClinGen gnomAD |
|
|
rs1369038367 CA350773878 |
3 | T>A | No |
ClinGen TOPMed |
|
|
CA350773882 rs1310263808 |
3 | T>S | No |
ClinGen TOPMed |
|
|
rs1430843815 CA764995798 |
4 | A>* | No |
ClinGen TOPMed |
|
|
rs752503519 CA2132182 |
4 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132183 rs758333562 |
5 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2132184 rs777611626 |
7 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350773931 rs777611626 |
7 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777611626 CA66053644 |
7 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756461760 CA350773943 |
8 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA66053647 rs756461760 |
8 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs751528648 CA2132185 |
9 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2132186 rs756135219 |
11 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476806135 CA350773968 |
11 | W>R | No |
ClinGen gnomAD |
|
|
CA350774015 rs1162942987 |
14 | A>G | No |
ClinGen gnomAD |
|
|
rs749442571 CA350774009 |
14 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749442571 CA2132188 |
14 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132190 rs779325285 |
15 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2132189 rs768824936 |
15 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1360384961 CA350774034 |
16 | L>F | No |
ClinGen gnomAD |
|
|
CA350774026 rs1574608129 |
16 | L>V | No |
ClinGen Ensembl |
|
|
CA350774037 rs1398766836 |
17 | L>M | No |
ClinGen gnomAD |
|
|
CA2132191 rs748512477 |
17 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778592313 CA66053663 |
18 | R>L | No |
ClinGen gnomAD |
|
|
CA66053665 rs778592313 |
18 | R>P | No |
ClinGen gnomAD |
|
|
rs1243571199 CA350774061 |
19 | E>D | No |
ClinGen gnomAD |
|
|
CA350774067 rs1574608163 |
20 | S>A | No |
ClinGen Ensembl |
|
|
CA350774685 rs1201879522 |
22 | D>N | No |
ClinGen TOPMed |
|
|
rs779047512 CA2132209 |
22 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA66054655 rs868543404 |
23 | V>L | No |
ClinGen Ensembl |
|
|
rs748437601 CA2132210 |
24 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs564151932 CA66054660 |
26 | S>F | No |
ClinGen Ensembl |
|
|
CA66054663 rs763617174 |
28 | C>S | No |
ClinGen TOPMed |
|
|
CA2132211 rs758645805 |
31 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs778296357 CA2132212 |
33 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA350774756 rs1374239064 |
34 | L>P | No |
ClinGen gnomAD |
|
|
CA350774758 rs1574612134 |
35 | T>P | No |
ClinGen Ensembl |
|
|
CA350774766 rs1309369949 |
36 | P>H | No |
ClinGen gnomAD |
|
|
CA2132214 rs780065275 |
36 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1288794048 CA350774782 |
39 | Q>* | No |
ClinGen TOPMed |
|
|
rs373092696 CA2132217 |
40 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA66054677 rs373092696 |
40 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2132219 rs774957017 |
40 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132220 rs763807247 |
41 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2132221 rs561327289 |
43 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1200530458 CA350774816 |
44 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs199868761 CA2132223 |
44 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 44 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251414096 CA350774819 |
45 | F>L | No |
ClinGen gnomAD |
|
|
CA2132224 rs371638186 |
45 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1197437493 CA350774834 |
47 | L>Q | No |
ClinGen gnomAD |
|
|
CA350774841 rs1478539897 |
48 | H>L | No |
ClinGen gnomAD |
|
|
CA350774843 rs75826247 |
48 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754976848 CA2132225 |
48 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA66054701 rs886983186 |
49 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1334715620 CA350774857 |
51 | P>Q | No |
ClinGen gnomAD |
|
|
CA350774856 rs1331433107 |
51 | P>S | No |
ClinGen gnomAD |
|
|
CA2132229 rs778280073 |
58 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1559176087 CA350774905 |
58 | G>V | No |
ClinGen Ensembl |
|
|
rs1331632011 CA350774929 |
62 | L>P | No |
ClinGen gnomAD |
|
|
CA350774933 rs1423987158 |
63 | P>S | No |
ClinGen TOPMed |
|
|
rs1260631628 CA350774947 |
65 | H>R | No |
ClinGen TOPMed |
|
|
CA350774963 rs757805542 |
68 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs757805542 CA2132231 |
68 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1316287895 CA350774975 |
69 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1288772585 CA350774977 |
70 | P>A | No |
ClinGen TOPMed |
|
|
CA2132232 rs781749886 |
70 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288772585 CA350774978 |
70 | P>S | No |
ClinGen TOPMed |
|
|
CA2132234 rs769127632 |
72 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2132233 rs746408127 |
72 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775065155 CA2132235 |
75 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA350775009 rs1247114681 |
75 | L>R | No |
ClinGen TOPMed |
|
|
rs775065155 CA2132236 |
75 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA66054731 rs906299774 |
76 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2132238 rs774108128 |
80 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 86 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2132239 rs200252129 |
86 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767334877 CA2132240 |
88 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA350775097 rs1559176211 |
89 | K>* | No |
ClinGen Ensembl |
|
|
rs751772254 CA2132276 |
90 | L>M | No |
ClinGen ExAC |
|
|
CA350775167 rs751772254 |
90 | L>V | No |
ClinGen ExAC |
|
|
CA66054870 rs765021304 |
91 | V>F | No |
ClinGen Ensembl |
|
|
rs1357274281 CA350775195 |
92 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA350775192 rs1357274281 |
92 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2132279 rs750854313 |
92 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350775211 rs1330896115 |
94 | A>S | No |
ClinGen gnomAD |
|
|
CA2132281 rs199668217 |
95 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754376192 CA2132282 |
95 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs754439287 CA2132283 |
96 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 97 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367648188 CA66054881 |
98 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2132284 rs778411510 |
99 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA66054882 rs529162559 |
99 | T>P | No |
ClinGen 1000Genomes |
|
|
CA350775266 rs1310855674 |
100 | G>A | No |
ClinGen gnomAD |
|
|
CA2132285 rs747736591 |
101 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA350775276 rs747736591 |
101 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1263329102 CA350775271 |
101 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200836374 CA350775280 |
102 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1239534920 CA350775283 |
102 | I>T | No |
ClinGen gnomAD |
|
|
CA2132286 rs200836374 |
102 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1478619311 CA350775290 |
103 | K>E | No |
ClinGen TOPMed |
|
|
CA2132287 rs777418586 |
103 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs746872090 CA2132288 |
104 | I>V | No |
ClinGen ExAC |
|
|
rs546230825 CA66054890 |
107 | F>C | No |
ClinGen Ensembl |
|
|
rs1300748619 CA350775353 |
108 | K>I | No |
ClinGen gnomAD |
|
|
rs776580233 CA2132290 |
111 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132289 rs770744624 |
111 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350775416 rs1465359464 |
113 | L>M | No |
ClinGen gnomAD |
|
|
CA2132309 rs769910398 |
115 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2132310 rs774549015 |
116 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774549015 CA66054971 |
116 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350775461 rs1323414897 |
116 | R>Q | No |
ClinGen gnomAD |
|
|
rs183764781 CA2132311 |
117 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350775469 rs1487162016 |
118 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs760821894 CA2132314 |
123 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA2132315 rs766700356 |
124 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA350775511 rs766700356 |
124 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA66054981 rs377049449 |
126 | L>F | No |
ClinGen ESP |
|
|
CA2132316 rs777047546 |
127 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs760028020 CA66054985 |
127 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760028020 CA2132317 |
127 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA350775530 rs1398473664 |
128 | G>D | No |
ClinGen gnomAD |
|
|
rs1218650899 CA350775527 |
128 | G>S | No |
ClinGen TOPMed |
|
|
rs1559176796 CA350775539 |
129 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA350775534 rs1320697884 |
129 | I>V | No |
ClinGen gnomAD |
|
|
rs752175483 CA2132319 |
130 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559176805 CA350775552 |
131 | S>F | No |
ClinGen Ensembl |
|
|
CA2132320 rs201614873 |
132 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1384410819 CA350775562 |
133 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA350775563 rs1384410819 |
133 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2132321 rs763523414 |
133 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 134 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763981535 CA66054996 |
135 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 136 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751153311 CA2132322 |
138 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1285155253 CA350775591 |
138 | C>G | No |
ClinGen gnomAD |
|
|
rs756923341 CA2132324 |
140 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1187166924 CA350775613 |
141 | S>N | No |
ClinGen gnomAD |
|
|
rs1235777892 CA350775617 |
141 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 142 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2132326 rs745705625 |
142 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1380153172 CA350775633 |
144 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs946340241 CA66055006 |
146 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA350775906 rs1479673507 |
153 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754938165 CA2132348 |
153 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs781758823 CA2132350 |
154 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781355271 CA2132352 |
155 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781355271 CA2132353 |
155 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350775927 rs770075355 |
156 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1425898589 CA350775921 |
156 | F>L | No |
ClinGen TOPMed |
|
|
CA350775931 rs763500336 |
157 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs775781511 CA2132355 |
157 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132356 rs763500336 |
157 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA2132357 rs370915475 |
157 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1463030075 CA350775938 |
158 | S>C | No |
ClinGen gnomAD |
|
|
CA350775942 rs1195621799 |
159 | A>D | No |
ClinGen gnomAD |
|
|
CA350775939 rs1168009379 |
159 | A>T | No |
ClinGen gnomAD |
|
|
rs1389915338 CA350775948 |
160 | L>H | No |
ClinGen gnomAD |
|
|
CA66055146 rs981862938 |
162 | W>S | No |
ClinGen TOPMed |
|
|
rs773881250 CA2132358 |
163 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1385063875 CA350775966 |
163 | L>V | No |
ClinGen gnomAD |
|
|
rs1345951528 CA350775971 |
164 | A>S | No |
ClinGen gnomAD |
|
|
CA350775981 rs1488233052 |
166 | L>F | No |
ClinGen TOPMed |
|
|
CA350775988 rs1263725627 |
167 | S>P | No |
ClinGen gnomAD |
|
|
CA2132359 rs761188152 |
169 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866137001 CA66055152 |
170 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 171 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2132360 rs767155741 |
172 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA350776059 rs1335769418 |
173 | N>D | No |
ClinGen TOPMed |
|
|
CA350776069 rs551792044 |
173 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs551792044 CA2132362 |
173 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766272864 CA2132363 |
174 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2132364 rs753634566 |
176 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1342223222 CA350776135 |
179 | D>H | No |
ClinGen TOPMed |
|
|
CA2132399 rs746562641 |
183 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770509684 CA2132400 |
183 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA350776262 rs1305264983 |
185 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs374669590 CA2132401 |
188 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2132402 rs200687994 |
189 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764933484 CA2132403 |
189 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775320238 CA2132404 |
195 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350776400 rs1177057663 |
196 | N>S | No |
ClinGen TOPMed |
|
|
rs372709063 CA2132406 |
201 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1419406879 CA350776444 |
201 | C>Y | No |
ClinGen gnomAD |
|
|
rs1175114064 CA350776453 |
202 | Q>R | No |
ClinGen gnomAD |
|
|
rs1342712300 CA350776459 |
203 | G>E | No |
ClinGen TOPMed |
|
|
CA66055235 rs887967044 |
203 | G>R | No |
ClinGen TOPMed |
|
|
CA350776469 rs1428779394 |
204 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1257759739 CA350776465 |
204 | F>Y | No |
ClinGen TOPMed |
|
|
rs751528691 CA2132408 |
206 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA66017594 rs912553511 |
207 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 210 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2132423 rs762693009 |
212 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2132424 rs563541948 |
213 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200281034 CA66017599 |
214 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2132425 rs201999209 |
217 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA66017604 rs964157426 |
218 | Y>C | No |
ClinGen gnomAD |
|
|
CA350704679 rs1269785510 |
219 | N>D | No |
ClinGen gnomAD |
|
|
rs761812997 CA2132426 |
219 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs761812997 CA66017606 |
219 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA2132427 rs201840323 |
220 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1421800522 CA350704694 |
220 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2132428 rs552488643 |
223 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350704761 rs1229593166 |
225 | P>R | No |
ClinGen TOPMed |
|
|
CA2132429 rs759655731 |
225 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 226 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350704771 rs1304139577 |
226 | R>K | No |
ClinGen gnomAD |
|
|
CA350704805 rs1325486989 |
227 | M>I | No |
ClinGen gnomAD |
|
|
rs765597568 CA2132430 |
229 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765597568 CA350704834 |
229 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132433 rs147583671 |
232 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758790323 CA2132434 |
234 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350704970 rs1047781454 |
235 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1289429232 CA350704957 |
235 | G>R | No |
ClinGen gnomAD |
|
|
CA66017619 rs1047781454 |
235 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs938920742 CA66017622 |
238 | I>L | No |
ClinGen Ensembl |
|
|
rs201204373 CA2132437 |
240 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1186110125 CA350705057 |
240 | R>L | No |
ClinGen TOPMed |
|
|
CA350705093 rs1213967958 |
242 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2132438 rs372553874 |
245 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745419352 CA2132439 |
245 | R>Q | Variant assessed as Somatic; 5.109e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA66017632 rs372553874 |
245 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1383861853 CA350705176 |
247 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs769215476 CA2132440 |
248 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201253890 CA2132441 |
248 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2132460 rs754681319 |
249 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1384765011 CA350705226 |
249 | G>S | No |
ClinGen gnomAD |
|
|
rs1184409966 CA350705388 |
251 | E>Q | No |
ClinGen gnomAD |
|
|
CA2132462 rs778658741 |
252 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350705486 rs1395600234 |
255 | N>T | No |
ClinGen TOPMed |
|
|
rs1174099097 CA350705510 |
257 | R>Q | No |
ClinGen TOPMed |
|
|
CA2132463 rs370857054 |
257 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350705517 rs1469817875 |
258 | H>Y | No |
ClinGen gnomAD |
|
|
rs149218768 CA2132464 |
260 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350705743 rs1344683660 |
263 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA350705732 rs1329278347 |
263 | Y>C | No |
ClinGen gnomAD |
|
|
rs1402892631 CA350705782 |
264 | N>K | No |
ClinGen gnomAD |
|
|
rs1156813668 CA350705777 |
264 | N>S | No |
ClinGen TOPMed |
|
|
CA350705934 rs1347622934 |
267 | E>K | No |
ClinGen gnomAD |
|
|
rs1473545937 CA350705968 |
268 | G>V | No |
ClinGen TOPMed |
|
|
CA2132467 rs775781995 |
269 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2132468 rs572282702 |
270 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350705999 rs1337992060 |
270 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1490275054 CA350706010 |
271 | E>K | No |
ClinGen gnomAD |
|
|
rs1440335395 CA350706111 |
274 | P>Q | No |
ClinGen TOPMed |
|
|
CA350706079 rs1270509188 |
274 | P>S | No |
ClinGen gnomAD |
|
|
rs1202512397 CA350706139 |
275 | L>R | No |
ClinGen TOPMed |
|
|
CA2132470 rs543517557 |
277 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350706292 rs1463437899 |
280 | E>D | No |
ClinGen gnomAD |
|
|
CA2132472 rs145811191 |
282 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132473 rs370599212 |
282 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2132474 rs370599212 |
282 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2132476 rs753396486 |
283 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765859957 CA2132475 |
283 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156674123 CA350706600 |
284 | L>F | No |
ClinGen gnomAD |
|
|
rs867143766 CA66017888 |
286 | L>M | No |
ClinGen Ensembl |
|
|
rs143390649 CA2132502 |
290 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA66017901 rs143390649 |
290 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350706794 rs143390649 |
290 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 292 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA66017907 rs867589847 |
292 | W>L | No |
ClinGen Ensembl |
|
|
rs1380552020 CA350706883 |
293 | F>L | No |
ClinGen gnomAD |
|
|
CA350706892 rs1391170795 |
294 | H>Y | No |
ClinGen gnomAD |
|
|
CA2132503 rs569794444 |
295 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1305383094 CA350706936 |
295 | P>T | No |
ClinGen gnomAD |
|
|
CA350707680 rs1574619504 |
297 | H>P | No |
ClinGen Ensembl |
|
|
CA2132504 rs781224134 |
298 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2132505 rs745811449 |
298 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA350707711 rs1292036635 |
299 | A>T | No |
ClinGen TOPMed |
|
|
CA66017914 rs1033293298 |
299 | A>V | No |
ClinGen TOPMed |
|
|
rs1205031752 CA350707774 |
301 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA66017918 rs768788626 |
302 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2132506 rs768788626 |
302 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1175255879 CA350707876 |
307 | P>L | No |
ClinGen gnomAD |
|
|
CA350707865 rs1480306856 |
307 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA350707892 rs772230645 |
308 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA2132509 rs772230645 |
308 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs376333597 CA2132508 |
308 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350707907 rs1468247905 |
309 | A>D | No |
ClinGen gnomAD |
|
|
CA350707902 rs1428890815 |
309 | A>T | No |
ClinGen gnomAD |
|
|
CA350707961 rs1360234020 |
311 | D>G | No |
ClinGen gnomAD |
|
|
rs1178404215 CA350707942 |
311 | D>N | No |
ClinGen gnomAD |
|
|
CA2132511 rs760988732 |
312 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA66017928 rs866762396 |
313 | A>D | No |
ClinGen Ensembl |
|
|
rs1574619629 CA350707990 |
313 | A>P | No |
ClinGen Ensembl |
|
|
rs1352671659 CA350708013 |
314 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA350708008 rs1352671659 |
314 | T>N | No |
ClinGen gnomAD |
|
|
rs1410851509 CA350708029 |
315 | G>V | No |
ClinGen gnomAD |
|
|
rs774061715 CA2132555 |
316 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs773029570 CA2132558 |
319 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199837177 CA2132557 |
319 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773029570 CA350709629 |
319 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329881567 CA350709641 |
320 | G>S | No |
ClinGen gnomAD |
|
|
rs1574620098 CA350709758 |
323 | L>F | No |
ClinGen Ensembl |
|
|
CA2132559 rs760338662 |
324 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA350709770 rs1261572768 |
324 | S>P | No |
ClinGen gnomAD |
|
|
CA2132561 rs753653927 |
327 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350709883 rs753653927 |
327 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132562 rs755010894 |
329 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1387416144 CA350710230 |
330 | T>S | No |
ClinGen gnomAD |
|
|
rs200649338 CA2132600 |
332 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1432512625 CA350710376 |
336 | L>R | No |
ClinGen TOPMed |
|
|
rs762942732 CA2132601 |
339 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA350710514 rs1359119212 |
341 | P>L | No |
ClinGen gnomAD |
|
|
rs932588933 CA66018220 |
342 | P>R | No |
ClinGen TOPMed |
|
|
rs376980555 CA66018231 |
344 | P>S | No |
ClinGen ESP TOPMed |
|
|
rs1559180573 CA350710613 |
345 | W>* | No |
ClinGen Ensembl |
|
|
CA350710723 rs1204026994 |
348 | G>E | No |
ClinGen gnomAD |
|
|
rs1343864862 CA350710737 |
349 | S>N | No |
ClinGen TOPMed |
|
|
rs1195005772 CA350710778 |
350 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1195005772 CA350710772 |
350 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs760776682 CA2132606 |
351 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228691454 CA350710786 |
351 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 355 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1007954341 CA66018247 |
355 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1189094944 CA350710967 |
357 | P>L | No |
ClinGen gnomAD |
|
|
rs766583617 CA2132607 |
358 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs754029513 CA2132608 |
359 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755337172 CA2132609 |
360 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350711178 rs1158045347 |
364 | S>F | No |
ClinGen gnomAD |
|
|
rs1437405179 CA350711215 |
366 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1437405179 CA350711219 |
366 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA66018255 rs1004599497 |
367 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs777127863 CA2132615 |
372 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 373 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746571808 CA2132616 |
373 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350711433 rs1559180716 |
375 | H>R | No |
ClinGen Ensembl |
|
|
rs1265892617 CA350711423 |
375 | H>Y | No |
ClinGen gnomAD |
|
|
rs770382662 CA350711494 |
376 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350711455 rs1330527804 |
376 | K>Q | No |
ClinGen gnomAD |
|
|
rs780852567 CA2132619 |
377 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2132620 rs745519981 |
378 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748040290 CA2132645 |
380 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs748040290 CA350711756 |
380 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 380 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375742770 CA2132646 |
380 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2132647 rs776909841 |
382 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132648 rs17855575 VAR_038529 |
382 | R>H | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs17855575 CA350711863 |
382 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132649 rs17855575 |
382 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276554405 CA350711904 |
384 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs763330999 CA2132651 |
385 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201945229 CA2132650 |
385 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs559492414 CA66018464 |
387 | S>G | No |
ClinGen Ensembl |
|
|
rs1487516046 CA350712013 |
388 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2132653 rs553152265 |
389 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1294278568 CA350712113 |
391 | P>S | No |
ClinGen TOPMed |
|
|
CA2132654 rs757758978 |
392 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1167076614 CA350712181 |
393 | D>G | No |
ClinGen gnomAD |
|
|
rs766989458 CA2132655 |
393 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2132656 rs372789253 |
394 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201409370 CA2132658 |
395 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2132659 rs375636592 |
396 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350712327 rs375636592 |
396 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374039967 CA2132661 |
397 | E>A | No |
ClinGen ESP ExAC |
|
|
rs17855576 CA2132663 |
399 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA66018489 rs17855576 VAR_038530 |
399 | R>G | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs781391333 CA66018496 |
399 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132664 rs781391333 |
399 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA350712424 rs1559181059 |
400 | T>S | No |
ClinGen Ensembl |
|
|
rs745905689 CA2132665 |
401 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs763147026 CA2132668 |
403 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132667 rs775800426 |
403 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs542468937 CA2132669 |
404 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs542468937 CA350712513 |
404 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2132671 rs369050835 |
405 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765861442 CA2132693 |
408 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs533235446 CA2132695 |
410 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA350713046 rs1290334337 |
411 | Q>* | No |
ClinGen gnomAD |
|
|
rs764745357 CA2132696 |
413 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA66018954 rs1028096682 |
413 | H>Y | No |
ClinGen TOPMed |
|
|
rs758197677 CA350713157 |
414 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132699 rs376877250 |
414 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350713169 rs376877250 |
414 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758197677 CA2132698 |
414 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758197677 CA350713154 |
414 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 415 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350713232 rs1471431328 |
417 | E>G | No |
ClinGen gnomAD |
|
|
rs62181345 CA66018970 |
418 | L>I | No |
ClinGen Ensembl |
|
|
CA350713299 rs1477427688 |
419 | M>K | No |
ClinGen gnomAD |
|
|
rs1477427688 CA350713304 |
419 | M>T | No |
ClinGen gnomAD |
|
|
CA350713289 rs1411999309 |
419 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755119069 CA2132704 |
421 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2132705 rs200019076 |
422 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772413276 CA2132707 |
423 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA66018987 rs772413276 |
423 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132706 rs748417151 |
423 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197475139 CA350713429 |
424 | E>D | No |
ClinGen TOPMed |
|
|
CA66018996 rs932110334 |
424 | E>Q | No |
ClinGen Ensembl |
|
|
rs752863159 CA2132710 |
425 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132708 rs773632792 |
425 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350713491 rs1441043098 |
427 | G>D | No |
ClinGen TOPMed |
|
|
rs758927817 CA2132712 |
427 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132714 rs78461888 |
428 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2132715 rs368068218 |
428 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368068218 CA2132716 |
428 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350713550 rs1206807440 |
429 | N>K | No |
ClinGen gnomAD |
|
|
CA350713608 CA2132717 rs535956219 |
433 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371492791 CA2132721 |
438 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757143171 CA2132719 |
438 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748364877 CA2132724 |
441 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758658876 CA2132725 |
443 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs569362610 CA2132726 |
445 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 446 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA66019057 rs1040530191 |
447 | T>I | No |
ClinGen TOPMed |
|
|
CA350713926 rs1574622869 |
447 | T>P | No |
ClinGen Ensembl |
|
|
CA350713971 rs1324997564 |
449 | T>A | No |
ClinGen TOPMed |
|
|
CA2132729 rs776933681 |
449 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746397596 CA2132730 |
450 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs367636886 CA2132732 |
452 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs893084001 CA66019072 |
453 | P>L | No |
ClinGen Ensembl |
|
|
CA2132733 rs762676368 |
455 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251516876 CA350714119 |
456 | P>S | No |
ClinGen gnomAD |
|
|
rs900570106 CA66019084 |
457 | P>S | No |
ClinGen TOPMed |
|
|
rs763793832 CA2132734 |
458 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132735 rs763793832 |
458 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559182150 CA350714193 |
459 | S>R | No |
ClinGen Ensembl |
|
|
CA66019090 rs761636272 |
460 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132737 rs767360347 |
460 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132736 rs761636272 |
460 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750314855 CA2132738 |
461 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350714237 rs1468555466 |
461 | Q>R | No |
ClinGen gnomAD |
|
|
CA2132739 rs756144480 |
462 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451033661 CA350714276 |
463 | P>S | No |
ClinGen gnomAD |
|
|
rs752821805 CA2132741 |
464 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA350714299 rs752821805 |
464 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457640671 CA350714348 |
466 | A>T | No |
ClinGen gnomAD |
|
|
CA66019103 rs897088128 |
466 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1392925099 CA350714396 |
468 | R>T | No |
ClinGen gnomAD |
|
|
CA66019106 rs775288380 |
470 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 471 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320402284 CA350714473 |
471 | P>L | No |
ClinGen gnomAD |
|
|
rs1462037109 CA350714452 |
471 | P>S | No |
ClinGen gnomAD |
|
|
rs1181606743 CA350714484 |
472 | P>A | No |
ClinGen TOPMed |
|
|
CA2132743 rs534474699 |
472 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2132744 rs534474699 |
472 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA66019121 rs534474699 |
472 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA66019133 rs1030398253 |
473 | Q>R | No |
ClinGen Ensembl |
|
|
rs781661765 CA2132746 |
474 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs953569661 CA66019135 |
476 | A>G | No |
ClinGen TOPMed |
|
|
CA350714584 rs1334843887 |
476 | A>T | No |
ClinGen gnomAD |
|
|
rs953569661 CA350714597 |
476 | A>V | No |
ClinGen TOPMed |
|
|
CA2132747 rs746351899 |
478 | G>C | No |
ClinGen ExAC |
|
|
rs1314806457 CA350714661 |
478 | G>V | No |
ClinGen TOPMed |
|
|
CA350714685 rs1430055596 |
479 | P>L | No |
ClinGen TOPMed |
|
|
CA350714683 rs1430055596 |
479 | P>R | No |
ClinGen TOPMed |
|
|
CA350714717 rs552718945 |
480 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2132751 rs552718945 |
480 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2132753 rs774092239 |
481 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs867968455 CA66019152 |
486 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 488 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 488 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350714942 rs1158610732 |
489 | E>G | No |
ClinGen gnomAD |
|
|
CA2132757 rs773100134 |
490 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA350714984 rs1289989883 |
491 | R>K | No |
ClinGen gnomAD |
|
|
CA2132758 rs760507951 |
492 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201924740 CA2132760 |
494 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350715122 rs1355758264 |
496 | E>* | No |
ClinGen gnomAD |
|
|
rs1227237529 CA350715149 |
496 | E>D | No |
ClinGen gnomAD |
|
|
CA2132761 rs768877790 |
497 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574623334 CA350715176 |
498 | E>K | No |
ClinGen Ensembl |
|
|
CA350715241 rs1574623341 |
499 | E>A | No |
ClinGen Ensembl |
|
|
CA2132764 rs751764373 |
499 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA350715259 rs1559182415 |
500 | E>Q | No |
ClinGen Ensembl |
|
|
rs867018529 CA66019193 |
501 | K>Q | No |
ClinGen Ensembl |
|
|
rs13409340 CA66019195 |
502 | E>V | No |
ClinGen Ensembl |
|
|
rs541533974 CA2132767 |
504 | K>Q | No |
ClinGen 1000Genomes ExAC |
|
|
rs1486145344 CA350715468 |
505 | E>G | No |
ClinGen gnomAD |
|
|
CA350715511 rs1409786391 |
506 | E>V | No |
ClinGen gnomAD |
|
|
rs561488143 CA2132769 |
507 | K>E | No |
ClinGen 1000Genomes TOPMed |
|
|
CA350715544 rs1420988942 |
507 | K>R | No |
ClinGen gnomAD |
|
|
rs750755956 CA2132771 |
509 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2132772 rs756470123 |
512 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132773 rs780643110 |
513 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA350715934 rs1340362035 |
515 | Q>R | No |
ClinGen gnomAD |
|
|
CA2132776 rs749829000 |
518 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350716043 rs778633707 |
519 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA2132778 rs778633707 |
519 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs369827406 CA2132779 |
522 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771805777 CA2132780 |
524 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA350716217 rs1169588875 |
524 | E>G | No |
ClinGen TOPMed |
|
|
CA350716248 rs1341223839 |
525 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1249895528 CA350716300 |
526 | E>K | No |
ClinGen gnomAD |
|
|
CA350716345 rs1481624668 |
527 | E>D | No |
ClinGen gnomAD |
|
|
rs764219297 CA2132783 |
529 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193829896 CA350716375 |
529 | D>V | No |
ClinGen TOPMed |
|
|
rs140414283 CA2132784 |
530 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776490724 CA2132785 |
531 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2132786 rs536620372 |
533 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132799 rs777415481 |
535 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263833795 CA350716511 |
535 | A>T | No |
ClinGen gnomAD |
|
|
CA2132800 rs777415481 |
535 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs953523382 CA350718698 |
537 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs953523382 CA66019338 |
537 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2132801 rs770696759 |
539 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274349947 CA350718774 |
539 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA350718777 rs1274349947 |
539 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350718775 rs1274349947 |
539 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1036361462 CA66019342 |
541 | L>F | No |
ClinGen TOPMed |
|
|
CA2132802 rs200869047 |
543 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769768761 CA2132804 |
544 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs775323669 CA2132805 |
545 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132807 rs767510249 |
547 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165095094 CA350719060 |
548 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA350719168 rs1170077261 |
550 | E>D | No |
ClinGen Ensembl |
|
|
rs1260309533 CA350719110 |
550 | E>K | No |
ClinGen TOPMed |
|
|
CA350719111 rs1260309533 |
550 | E>Q | No |
ClinGen TOPMed |
|
|
rs1387773545 CA350719185 |
551 | G>D | No |
ClinGen gnomAD |
|
|
VAR_038531 CA2132810 rs673951 |
552 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA350719213 rs673951 |
552 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2132812 rs750923053 |
553 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132811 rs766820320 |
553 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283808340 CA350719265 |
554 | G>V | No |
ClinGen gnomAD |
|
|
rs200941016 CA2132813 |
557 | C>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2132815 rs753147630 |
558 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765799088 CA2132814 |
558 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs981105154 CA66019376 |
563 | S>F | No |
ClinGen Ensembl |
|
|
rs746667443 CA2132819 |
564 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777203435 CA2132817 |
564 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746667443 CA2132818 |
564 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745626247 CA2132821 |
566 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1424409735 CA350719625 |
567 | F>L | No |
ClinGen TOPMed |
|
|
rs1261131965 CA350719635 |
567 | F>S | No |
ClinGen TOPMed |
|
|
CA2132823 rs775443446 |
569 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 570 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772189920 CA2132825 |
571 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs773206151 CA2132826 |
571 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1395467063 CA350719767 |
572 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350719811 rs1331994080 |
573 | A>V | No |
ClinGen gnomAD |
|
|
rs201039349 CA2132827 |
575 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs766660134 CA2132828 |
575 | R>H | Variant assessed as Somatic; 4.658e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2132829 rs777024014 |
576 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2132830 rs369193971 |
579 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369193971 CA2132831 |
579 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350719963 rs753232181 |
579 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2132832 rs753232181 |
579 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132833 rs372516135 |
580 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1308862675 CA350720050 |
583 | Q>H | No |
ClinGen gnomAD |
|
|
CA2132834 rs763625414 |
586 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1278694347 CA350720162 |
588 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 588 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350720212 rs1350529552 |
590 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1559183137 CA350720232 |
590 | I>M | No |
ClinGen Ensembl |
|
|
rs1351167689 CA350720219 |
590 | I>T | No |
ClinGen gnomAD |
|
|
rs1350529552 CA350720213 |
590 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1218565772 CA350720246 |
591 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1218565772 CA350720239 |
591 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1029632408 CA66019435 |
592 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 592 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2132835 rs751075866 |
592 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA350720313 rs1183445024 |
593 | E>K | No |
ClinGen gnomAD |
|
|
CA350720357 rs1233359435 |
594 | A>T | No |
ClinGen gnomAD |
|
|
rs750094204 CA2132838 |
595 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1396621269 CA350720411 |
596 | A>T | No |
ClinGen gnomAD |
|
|
CA350720421 rs1435111009 |
596 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA350720442 rs1257658222 |
597 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs779782994 CA2132840 |
597 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1041555539 CA66019451 |
599 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2132841 rs749220928 |
599 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs778933497 CA2132843 |
600 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs972109588 CA66019459 |
601 | R>G | No |
ClinGen TOPMed |
|
|
CA2132844 rs747045150 |
602 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2132845 rs376437119 |
603 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 606 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559183527 CA350720719 |
608 | L>F | No |
ClinGen Ensembl |
|
|
CA350720738 rs1374965819 |
609 | P>R | No |
ClinGen gnomAD |
|
|
CA350720731 rs1237562703 |
609 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 609 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339571207 CA350720754 |
610 | G>V | No |
ClinGen gnomAD |
|
|
rs766985649 CA2132871 |
611 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309702559 CA350720772 |
613 | I>M | No |
ClinGen gnomAD |
|
|
rs772760158 CA2132872 |
613 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 614 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227668924 CA350720781 |
615 | S>C | No |
ClinGen gnomAD |
|
|
CA350720790 rs1258895481 |
616 | L>P | No |
ClinGen gnomAD |
|
|
rs1311459634 CA350720788 |
616 | L>V | No |
ClinGen gnomAD |
|
|
CA2132873 rs183004517 |
617 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350720794 rs1205571061 |
617 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2132876 rs753532382 |
622 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158946757 CA350720837 |
623 | P>L | No |
ClinGen gnomAD |
|
|
CA2132877 rs754671416 |
623 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350720838 rs1358923519 |
624 | D>N | No |
ClinGen TOPMed |
|
|
rs150279473 CA350720846 |
625 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2132881 rs200008222 |
625 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA2132880 rs200008222 |
625 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs150279473 CA2132879 |
625 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1401019682 CA350720857 |
627 | L>V | No |
ClinGen gnomAD |
|
|
CA66019639 rs1003766827 |
628 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs370479546 CA2132882 |
628 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350720864 rs1003766827 |
628 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2132883 rs146871592 |
629 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2132884 rs368637601 |
629 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA350720869 rs368637601 |
629 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749586079 CA2132885 |
630 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1239477499 CA350720885 |
632 | V>M | No |
ClinGen gnomAD |
|
|
rs768900685 CA2132886 |
633 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA66019655 rs991593019 |
634 | E>K | No |
ClinGen gnomAD |
|
|
CA2132887 rs543076522 |
635 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1486033971 CA350720920 |
637 | A>V | No |
ClinGen gnomAD |
|
|
rs772521158 CA2132889 |
638 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs185836682 CA2132891 |
638 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772521158 CA350720922 |
638 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA66019668 rs977131189 |
639 | A>T | No |
ClinGen TOPMed |
|
|
rs1175063811 CA350720940 |
641 | V>F | No |
ClinGen gnomAD |
|
|
rs1324073411 CA350720949 |
642 | Q>L | No |
ClinGen TOPMed |
|
|
rs775221455 CA2132932 |
643 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs769430627 CA2132931 |
643 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 646 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA66019765 rs542917038 |
646 | A>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA2132934 rs187483004 |
647 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2132933 rs187483004 |
647 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 651 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350721020 rs1398732570 |
653 | N>D | No |
ClinGen gnomAD |
|
|
rs761539646 CA2132937 |
653 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132936 rs761539646 |
653 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750332959 CA2132938 |
655 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs138178069 CA66019787 |
656 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765358247 CA2132940 |
656 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs765358247 CA2132941 |
656 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs138178069 CA2132939 |
656 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1416767532 CA350721042 |
657 | E>G | No |
ClinGen gnomAD |
|
|
rs201457639 CA2132942 |
657 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs11542701 CA66019802 |
658 | Q>H | No |
ClinGen Ensembl |
|
|
CA2132944 rs751899670 |
658 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA350721052 rs1559184117 |
659 | L>F | No |
ClinGen Ensembl |
|
|
CA350721055 rs1574625662 |
659 | L>P | No |
ClinGen Ensembl |
|
|
rs1286719614 CA350721069 |
661 | E>D | No |
ClinGen gnomAD |
|
|
rs79088373 CA66019808 |
661 | E>G | No |
ClinGen Ensembl |
|
|
CA66019810 rs929287079 |
662 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 663 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209619005 CA350721094 |
664 | D>A | No |
ClinGen gnomAD |
|
|
rs1209619005 CA350721096 |
664 | D>G | No |
ClinGen gnomAD |
|
|
rs781673637 CA2132946 |
665 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs149600925 CA2132947 |
672 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769426701 CA2132948 |
674 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779753330 CA2132949 |
674 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs769426701 CA350721236 |
674 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2132950 rs193260639 |
676 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350721280 rs1433884002 |
677 | H>N | No |
ClinGen gnomAD |
|
|
CA350721306 rs1304164373 |
678 | E>A | No |
ClinGen TOPMed |
|
|
rs1173234910 CA350721369 |
680 | K>T | No |
ClinGen gnomAD |
|
|
rs1373950027 CA350721432 |
682 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 683 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350721508 rs773907477 |
684 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs773907477 CA2132952 |
684 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs747910026 CA2132953 |
685 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1234092356 CA350721589 |
686 | M>I | No |
ClinGen gnomAD |
|
|
CA2132955 rs773121181 |
686 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350721659 rs1271631997 |
688 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs775596234 CA2132959 |
689 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 692 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350721945 rs1393479789 |
693 | G>D | No |
ClinGen gnomAD |
|
|
rs964313667 CA66019872 |
694 | W>C | No |
ClinGen Ensembl |
|
| TCGA novel | 695 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574625863 CA350722055 |
696 | P>L | No |
ClinGen Ensembl |
|
|
rs1173405170 CA350722047 |
696 | P>S | No |
ClinGen gnomAD |
|
|
rs1559184297 CA350722167 |
700 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 701 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781046940 CA2132997 |
704 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1432288353 CA350725026 |
704 | P>S | No |
ClinGen gnomAD |
|
|
rs1379289883 CA350725062 |
705 | A>P | No |
ClinGen gnomAD |
|
|
CA350725079 rs1371006261 |
705 | A>V | No |
ClinGen Ensembl |
|
|
rs1251143900 CA350725091 |
706 | V>L | No |
ClinGen TOPMed |
|
|
rs980485086 CA66020679 |
707 | C>W | No |
ClinGen Ensembl |
|
|
CA2132998 rs373066544 |
708 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2133000 rs768773712 |
710 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 712 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1440174903 CA350725310 |
713 | D>N | No |
ClinGen TOPMed |
|
|
rs774346753 CA2133001 |
715 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs987955325 CA66020690 |
716 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs913838032 CA66020693 |
717 | L>P | No |
ClinGen Ensembl |
|
|
CA350725518 rs1395478778 |
718 | L>F | No |
ClinGen TOPMed |
|
|
rs199930908 CA2133005 |
719 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2133006 rs761063871 |
721 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370383207 CA2133008 |
722 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2133007 rs766908488 |
722 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 723 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2133010 rs764779246 |
724 | T>A | No |
ClinGen ExAC |
|
|
rs752099058 CA2133011 |
724 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs751222341 CA2133014 |
726 | N>K | No |
ClinGen ExAC |
|
|
rs367627243 CA2133013 |
726 | N>S | No |
ClinGen ESP ExAC |
|
|
rs1041444256 CA66020727 |
728 | E>K | No |
ClinGen Ensembl |
|
|
CA2133016 rs199829451 |
729 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2133015 rs557215022 |
729 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376178918 CA2133018 |
732 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350725875 rs1559185922 |
732 | G>R | No |
ClinGen Ensembl |
|
|
CA2133019 rs769571874 |
734 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA2133020 rs780076073 |
737 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2133021 rs201409824 |
738 | P>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA350726096 rs1226868647 |
739 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA350726093 rs1226868647 |
739 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748113911 CA2133023 |
740 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs627530 CA350726172 |
741 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2133026 rs627530 VAR_038532 |
741 | S>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1252716842 CA350726252 |
745 | V>I | No |
ClinGen gnomAD |
|
|
rs1192509357 CA350726324 |
747 | H>P | No |
ClinGen gnomAD |
|
|
rs771393392 CA2133027 |
747 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA350726380 rs1427377138 |
748 | P>S | No |
ClinGen gnomAD |
|
|
rs776907199 CA2133028 |
749 | P>A | Variant assessed as Somatic; 0.0004177 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776907199 CA350726412 |
749 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 753 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1466042326 CA350726546 |
753 | D>N | No |
ClinGen gnomAD |
|
|
CA66020756 rs1027058521 |
755 | L>F | No |
ClinGen TOPMed |
|
|
rs759967189 CA2133029 |
755 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs765620317 CA2133030 |
756 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368618154 CA350726792 |
758 | A>D | No |
ClinGen gnomAD |
|
|
rs1295495702 CA350726775 |
758 | A>T | No |
ClinGen gnomAD |
|
|
rs1368618154 CA350726811 |
758 | A>V | No |
ClinGen gnomAD |
|
|
CA2133033 rs762387478 |
759 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 759 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350726974 rs1559186073 |
762 | P>L | No |
ClinGen Ensembl |
|
|
CA350726963 rs1449613384 |
762 | P>S | No |
ClinGen gnomAD |
|
|
CA2133034 rs763648179 |
763 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA2133035 rs751205760 |
764 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA2133037 rs780847120 |
766 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs2305053 CA2133039 |
769 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2133040 rs779801551 |
769 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs201356919 CA2133041 |
771 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350727249 rs1264630535 |
771 | H>Y | No |
ClinGen gnomAD |
|
|
rs781208565 CA2133042 |
772 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778041028 CA2133043 |
775 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA66020789 rs949421292 |
775 | S>I | No |
ClinGen TOPMed |
|
|
rs771227646 CA2133045 |
776 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2133047 rs776942634 |
777 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2133046 rs776942634 |
777 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574629135 CA350727517 |
778 | P>S | No |
ClinGen Ensembl |
|
|
CA2133070 rs774847500 |
779 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2133048 rs199715487 |
779 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761258829 CA2133072 |
780 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA350727686 rs1275843508 |
781 | E>K | No |
ClinGen gnomAD |
|
|
rs145503364 CA2133073 |
782 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2133074 rs772736228 |
782 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350727726 rs1232290702 |
783 | C>R | No |
ClinGen gnomAD |
|
|
CA350727739 rs1468405697 |
783 | C>Y | No |
ClinGen gnomAD |
|
|
CA350727759 rs1399000676 |
784 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs372428653 CA2133075 |
786 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2133076 rs766067644 |
786 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA66020863 rs1037610797 |
787 | S>F | No |
ClinGen Ensembl |
|
|
rs1173257498 CA350727849 |
788 | V>A | No |
ClinGen gnomAD |
|
|
rs753641040 CA2133077 |
788 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759433952 CA2133078 |
789 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2133079 rs755470447 |
791 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1354515267 CA350727892 |
791 | R>Q | No |
ClinGen gnomAD |
|
|
CA350727898 rs1444993294 |
792 | L>V | No |
ClinGen gnomAD |
|
|
CA2133081 rs757266751 |
793 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752695207 CA2133080 |
793 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350727961 rs1272729382 |
794 | L>H | No |
ClinGen gnomAD |
|
|
rs1559186410 CA350728030 |
797 | D>V | No |
ClinGen Ensembl |
|
|
rs750577551 CA2133083 |
798 | V>A | No |
ClinGen ExAC TOPMed |
|
|
CA350728052 rs750577551 |
798 | V>D | No |
ClinGen ExAC TOPMed |
|
|
rs1219372459 CA350728047 |
798 | V>I | No |
ClinGen gnomAD |
|
|
CA350728086 rs1574629494 |
799 | E>D | No |
ClinGen Ensembl |
|
|
rs375492599 CA66020885 |
799 | E>G | No |
ClinGen ESP |
|
|
CA350728109 rs1574629501 |
800 | V>G | No |
ClinGen Ensembl |
|
|
CA2133084 rs756406037 |
800 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs369762223 CA2133086 |
802 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2133087 rs148777814 |
802 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2133089 rs528373192 |
803 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2133090 rs771455696 |
804 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1245272930 CA350728208 |
805 | Q>L | No |
ClinGen gnomAD |
|
|
CA350728221 rs1479033577 |
806 | E>K | No |
ClinGen gnomAD |
|
|
rs772831214 CA2133091 |
807 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1574629551 CA350728367 |
812 | L>V | No |
ClinGen Ensembl |
|
|
rs1266952034 CA350729656 |
816 | V>A | No |
ClinGen gnomAD |
|
|
CA2133107 rs772585808 |
819 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350729753 rs772585808 |
819 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2133109 rs746459974 |
821 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs770358108 CA2133110 |
822 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA2133111 rs776406589 |
823 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA350729885 rs1186053875 |
824 | E>A | No |
ClinGen gnomAD |
|
|
CA2133112 rs373650041 |
825 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs941113660 CA66022587 |
827 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1574630709 CA350730044 |
828 | L>V | No |
ClinGen Ensembl |
|
|
CA350730148 rs1157625744 |
831 | V>G | No |
ClinGen gnomAD |
|
|
CA350730170 rs1396770296 |
832 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2133113 rs370366394 |
834 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2133114 rs374671989 |
834 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA350730218 rs374671989 |
834 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA350730208 rs370366394 |
834 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762677528 CA2133115 |
835 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323292291 CA350730268 |
836 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs764027038 CA2133116 |
837 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1238149380 CA350730489 |
845 | M>I | No |
ClinGen gnomAD |
|
|
CA2133120 rs116409665 |
846 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2133121 rs766513224 |
846 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2133150 rs758774048 |
847 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA350730755 rs1404042894 |
848 | P>R | No |
ClinGen TOPMed |
|
|
rs1447327373 CA350730809 |
849 | P>L | No |
ClinGen gnomAD |
|
|
rs1402179483 CA350730769 |
849 | P>S | No |
ClinGen gnomAD |
|
|
rs946889615 CA66022823 |
850 | A>V | No |
ClinGen TOPMed |
|
|
CA2133151 rs764429093 |
852 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1164224324 CA350731045 |
855 | L>Q | No |
ClinGen TOPMed |
|
|
CA2133152 rs752070892 |
856 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2133153 rs757887329 |
858 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2133154 rs781769842 |
859 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs755701042 CA2133156 |
860 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs774909778 CA2133155 |
860 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA2133157 rs779745489 |
862 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA350731185 rs1426976402 |
863 | D>V | No |
ClinGen gnomAD |
|
|
rs375380075 CA2133158 |
866 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375380075 CA2133159 |
866 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2133160 rs774067023 |
867 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs910851115 CA66022850 |
867 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs202180841 CA2133161 |
868 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350731351 rs1297800487 |
873 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 874 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759551934 CA2133164 |
874 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs866654375 CA350731459 |
877 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA66022861 rs866654375 |
877 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs552536155 CA2133165 |
877 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1295521906 CA350731486 |
879 | E>Q | No |
ClinGen gnomAD |
|
|
rs763120317 CA2133167 |
880 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs751820625 CA2133169 |
881 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA2133168 rs371739145 |
881 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762298614 CA2133170 |
882 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2133172 rs200418315 |
884 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2133171 rs768067989 |
884 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs200418315 CA2133173 |
884 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779471681 CA2133174 |
886 | R>C | Variant assessed as Somatic; 4.655e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753507704 CA2133175 |
886 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753507704 CA350731628 |
886 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778662011 CA2133177 |
888 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350731680 rs1425401131 |
891 | P>R | No |
ClinGen gnomAD |
|
|
CA350731678 rs1411292810 |
891 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2133178 rs199612477 |
892 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1366476050 CA350731688 |
892 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1419148187 CA350731691 |
893 | D>Y | No |
ClinGen gnomAD |
|
|
CA350731738 rs1296367117 |
895 | R>T | No |
ClinGen gnomAD |
|
|
rs1362572126 CA350731754 |
896 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 896 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 897 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377425935 CA350731792 |
898 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2133179 rs374055355 |
898 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1189183373 CA350731834 |
900 | F>I | No |
ClinGen TOPMed |
|
|
CA350731886 rs1574632686 |
902 | E>G | No |
ClinGen Ensembl |
|
|
CA2133181 rs747013040 |
903 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559188215 CA350731902 |
903 | E>V | No |
ClinGen Ensembl |
|
|
rs1352459963 CA350731923 |
904 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1559188224 CA350731950 |
905 | L>R | No |
ClinGen Ensembl |
|
|
rs929737061 CA66023024 |
907 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2133199 rs777580602 |
907 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA350732115 rs1240305323 |
909 | Q>* | No |
ClinGen gnomAD |
|
|
rs1470539738 CA350732139 |
910 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 910 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1003263030 CA66023032 |
911 | L>P | No |
ClinGen TOPMed |
|
|
rs781220891 CA2133202 |
912 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1321667188 CA350732169 |
913 | P>L | No |
ClinGen TOPMed |
|
|
rs1416588321 CA350732175 |
914 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 915 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350732198 rs1177799252 |
915 | W>R | No |
ClinGen gnomAD |
|
|
CA2133203 rs376576918 |
919 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1332923412 CA350732317 |
920 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA66023038 rs753673382 |
924 | E>Q | No |
ClinGen gnomAD |
|
|
CA2133204 rs768793736 |
925 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350732464 rs1315800258 |
928 | P>H | No |
ClinGen gnomAD |
|
|
rs1200356694 CA350732488 |
929 | Q>H | No |
ClinGen gnomAD |
|
| rs1559188516 | 929 | Q>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369639341 CA2133208 |
931 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2133207 rs549417233 |
931 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350732543 rs1574633180 |
932 | L>P | No |
ClinGen Ensembl |
|
|
CA2133233 rs772237207 |
937 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1361803299 CA350732666 |
937 | E>K | No |
ClinGen gnomAD |
|
|
CA350732692 rs1574633547 |
939 | D>A | No |
ClinGen Ensembl |
|
|
CA2133234 rs762481383 |
940 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1481027258 CA350732715 |
941 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1574633554 CA350732724 |
942 | L>W | No |
ClinGen Ensembl |
|
| TCGA novel | 943 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2133235 rs763670408 |
944 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200702532 CA2133236 |
945 | R>C | Variant assessed as Somatic; 9.282e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs185984035 CA2133237 |
945 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1251513720 CA350732774 |
946 | Q>H | No |
ClinGen TOPMed |
|
|
rs374546281 CA350732809 |
949 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350732805 rs1574633576 |
949 | Y>S | No |
ClinGen Ensembl |
|
|
CA2133241 rs191478025 |
951 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2133243 rs143777035 |
951 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2133242 rs143777035 |
951 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2133240 rs191478025 |
951 | R>W | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2133245 rs758569750 |
952 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2133244 rs758569750 |
952 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 955 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs113558781 CA66023177 |
956 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 957 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757285285 CA2133282 |
957 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757285285 CA2133283 |
957 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350733724 rs1399875597 |
958 | P>L | No |
ClinGen gnomAD |
|
|
CA2133284 rs750702361 |
959 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA350733785 rs1311544363 |
960 | T>I | No |
ClinGen gnomAD |
|
|
rs1215565691 CA350733775 |
960 | T>S | No |
ClinGen gnomAD |
|
|
CA2133286 rs780435951 |
961 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1559189283 CA350733819 |
962 | L>F | No |
ClinGen Ensembl |
|
|
CA2133288 rs755473286 |
963 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350733828 rs755473286 |
963 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2133289 rs779293635 |
964 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2133292 rs772918101 |
967 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1253857841 CA350733898 |
968 | T>I | No |
ClinGen gnomAD |
|
|
CA2133293 rs373789645 |
969 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350733921 rs1346901490 |
971 | T>I | No |
ClinGen TOPMed |
|
|
rs765152913 CA2133297 |
973 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1157519546 CA350733954 |
973 | F>L | No |
ClinGen gnomAD |
|
|
CA350733975 rs1432140129 |
974 | L>P | No |
ClinGen gnomAD |
|
|
CA350734041 rs1302561779 |
976 | D>A | No |
ClinGen gnomAD |
|
|
rs1381055492 CA350734057 |
976 | D>E | No |
ClinGen gnomAD |
|
|
rs761937831 CA2133299 |
978 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs761937831 CA2133300 |
978 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1352290059 CA350734094 |
979 | A>D | No |
ClinGen gnomAD |
|
|
CA350734090 rs1315387788 |
979 | A>T | No |
ClinGen gnomAD |
|
|
rs997735731 CA350734120 |
981 | G>E | No |
ClinGen TOPMed |
|
|
rs997735731 CA66023519 |
981 | G>V | No |
ClinGen TOPMed |
|
|
CA350734138 rs1413905778 |
982 | S>Y | No |
ClinGen Ensembl |
|
|
rs1317400410 CA350734148 |
983 | P>A | No |
ClinGen gnomAD |
|
|
rs111452619 CA2133304 |
983 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111452619 CA2133303 |
983 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1317400410 CA350734147 |
983 | P>S | No |
ClinGen gnomAD |
|
|
rs779465078 CA2133306 |
984 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs748673563 CA2133307 |
986 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1485144164 CA350734198 |
986 | P>L | No |
ClinGen TOPMed |
|
|
rs577871796 CA2133308 |
987 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1175507991 CA350734239 |
988 | P>L | No |
ClinGen gnomAD |
|
|
CA350734280 rs1244387376 |
991 | A>T | No |
ClinGen TOPMed |
|
|
CA2133309 rs777477941 |
992 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs889265612 CA66023544 |
994 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs770663524 CA2133311 |
997 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350734512 rs1559189463 |
997 | E>K | No |
ClinGen Ensembl |
|
|
rs776425161 CA350734561 |
998 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs776425161 CA2133312 |
998 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA350734592 rs1574634639 |
999 | V>G | No |
ClinGen Ensembl |
|
|
CA66023554 rs745597239 |
999 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745597239 CA2133313 |
999 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373448855 CA350734649 |
1001 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA350734660 rs1218566670 |
1001 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1373448855 CA350734652 |
1001 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2133314 rs200145952 |
1002 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775490829 CA2133315 |
1003 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2133317 rs762837831 |
1004 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2133320 rs760749535 |
1006 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760749535 CA66023578 |
1006 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766531848 CA2133322 |
1008 | V>A | No |
ClinGen ExAC |
|
|
rs754120575 CA2133323 |
1009 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191092033 CA350734813 |
1009 | R>H | No |
ClinGen gnomAD |
|
|
rs755368379 CA2133324 |
1010 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1056826602 CA66023592 |
1012 | E>Q | No |
ClinGen Ensembl |
|
|
CA2133325 rs765564569 |
1013 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2133326 rs753229778 |
1017 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA350735072 rs1400029790 |
1019 | L>Q | No |
ClinGen gnomAD |
|
|
rs1036132393 CA66023599 |
1020 | S>N | No |
ClinGen TOPMed |
|
|
rs369390904 CA2133328 |
1022 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA66023605 rs1012692224 |
1024 | L>F | No |
ClinGen gnomAD |
|
|
CA2133329 rs751043988 |
1024 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2133331 rs373635749 |
1026 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745571773 CA2133332 |
1026 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs745571773 CA2133333 |
1026 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA2133334 rs779762380 |
1027 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749139882 CA66023617 |
1028 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749139882 CA2133335 |
1028 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438444674 CA350735270 |
1029 | P>L | No |
ClinGen gnomAD |
|
|
CA350735265 rs1275428515 |
1029 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2133338 rs760731527 |
1031 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs200765370 CA2133340 |
1033 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759730728 CA2133342 |
1033 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200765370 CA2133341 |
1033 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763375972 CA2133345 |
1035 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2133346 rs764636297 |
1037 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1297572286 CA350735556 |
1039 | E>Q | No |
ClinGen gnomAD |
|
|
CA350735816 rs1222226693 |
1040 | V>A | No |
ClinGen gnomAD |
|
|
CA66023972 rs956718851 |
1040 | V>M | No |
ClinGen TOPMed |
|
|
rs758120259 CA2133383 |
1042 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2133382 rs769117994 |
1042 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350735855 rs1559190240 |
1044 | E>G | No |
ClinGen Ensembl |
|
|
CA350735876 rs1249302162 |
1045 | S>N | No |
ClinGen gnomAD |
|
|
CA350735877 rs1249302162 |
1045 | S>T | No |
ClinGen gnomAD |
|
|
rs765140630 CA66023983 |
1047 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2133385 rs767854169 |
1049 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs773828209 CA2133386 |
1050 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2133387 rs531254740 |
1050 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2133388 rs531254740 |
1050 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1180485128 CA350736030 |
1052 | V>A | No |
ClinGen TOPMed |
|
|
rs750610406 CA2133389 |
1052 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2133390 rs754580743 |
1053 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371500321 CA350736171 |
1058 | T>I | No |
ClinGen gnomAD |
|
|
CA350736162 rs1559190295 |
1058 | T>S | No |
ClinGen Ensembl |
|
|
rs1008718310 CA66024002 |
1061 | L>P | No |
ClinGen Ensembl |
|
|
rs756114545 CA2133397 |
1065 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756114545 CA66024009 |
1065 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2133396 rs756114545 |
1065 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2133395 rs747032089 |
1065 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2133398 rs749400929 |
1066 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774728576 CA2133400 |
1068 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748510870 CA350736489 |
1069 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2133401 rs748510870 |
1069 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772555639 CA350736543 |
1070 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2133402 rs772555639 |
1070 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1559190346 CA350736594 |
1071 | L>P | No |
ClinGen Ensembl |
|
|
rs17853279 VAR_038533 CA66024020 |
1074 | I>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs766821244 CA2133405 |
1075 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776082847 CA350736737 |
1077 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369526623 CA2133407 |
1077 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2133406 rs776082847 |
1077 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764807705 CA2133408 |
1078 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA2133410 rs199987598 |
1079 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2133411 rs199987598 |
1079 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA66024039 rs910182658 |
1083 | A>S | No |
ClinGen TOPMed |
|
|
CA2133414 rs376215443 |
1083 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs202148315 CA2133419 |
1088 | R>* | Variant assessed as Somatic; 0.001629 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1453716602 CA350737075 |
1088 | R>Q | No |
ClinGen gnomAD |
No associated diseases with Q8N1F8
3 regional properties for Q8N1F8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Leucine-rich repeat | 233 - 254 | IPR001611-1 |
| repeat | Leucine-rich repeat | 255 - 276 | IPR001611-2 |
| domain | LKB1 serine/threonine kinase interacting protein 1, N-terminal | 6 - 93 | IPR031782 |
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| azurophil granule lumen | The volume enclosed by the membrane of an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTTAQRDSLL | WKLAGLLRES | GDVVLSGCST | LSLLTPTLQQ | LNHVFELHLG | PWGPGQTGFV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ALPSHPADSP | VILQLQFLFD | VLQKTLSLKL | VHVAGPGPTG | PIKIFPFKSL | RHLELRGVPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HCLHGLRGIY | SQLETLICSR | SLQALEELLS | ACGGDFCSAL | PWLALLSANF | SYNALTALDS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SLRLLSALRF | LNLSHNQVQD | CQGFLMDLCE | LHHLDISYNR | LHLVPRMGPS | GAALGVLILR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GNELRSLHGL | EQLRNLRHLD | LAYNLLEGHR | ELSPLWLLAE | LRKLYLEGNP | LWFHPEHRAA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TAQYLSPRAR | DAATGFLLDG | KVLSLTDFQT | HTSLGLSPMG | PPLPWPVGST | PETSGGPDLS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DSLSSGGVVT | QPLLHKVKSR | VRVRRASISE | PSDTDPEPRT | LNPSPAGWFV | QQHPELELMS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SFRERFGRNW | LQYRSHLEPS | GNPLPATPTT | SAPSAPPASS | QGPDTAPRPS | PPQEEARGPQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ESPQKMSEEV | RAEPQEEEEE | KEGKEEKEEG | EMVEQGEEEA | GEEEEEEQDQ | KEVEAELCRP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LLVCPLEGPE | GVRGRECFLR | VTSAHLFEVE | LQAARTLERL | ELQSLEAAEI | EPEAQAQRSP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RPTGSDLLPG | APILSLRFSY | ICPDRQLRRY | LVLEPDAHAA | VQELLAVLTP | VTNVAREQLG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EARDLLLGRF | QCLRCGHEFK | PEEPRMGLDS | EEGWRPLFQK | TESPAVCPNC | GSDHVVLLAV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SRGTPNRERK | QGEQSLAPSP | SASPVCHPPG | HGDHLDRAKN | SPPQAPSTRD | HGSWSLSPPP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ERCGLRSVDH | RLRLFLDVEV | FSDAQEEFQC | CLKVPVALAG | HTGEFMCLVV | VSDRRLYLLK |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VTGEMREPPA | SWLQLTLAVP | LQDLSGIELG | LAGQSLRLEW | AAGAGRCVLL | PRDARHCRAF |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LEELLDVLQS | LPPAWRNCVS | ATEEEVTPQH | RLWPLLEKDS | SLEARQFFYL | RAFLVEGPST |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| CLVSLLLTPS | TLFLLDEDAA | GSPAEPSPPA | ASGEASEKVP | PSGPGPAVRV | REQQPLSSLS |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| SVLLYRSAPE | DLRLLFYDEV | SRLESFWALR | VVCQEQLTAL | LAWIREPWEE | LFSIGLRTVI |
| QEALALDR |