Q9BZL4
PR
Gene name |
PPP1R12C |
Protein name |
Protein phosphatase 1 regulatory subunit 12C |
Names |
Protein phosphatase 1 myosin-binding subunit of 85 kDa, Protein phosphatase 1 myosin-binding subunit p85 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54776 |
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 Q9BZL4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BZL4-F1 | Predicted | AlphaFoldDB |
712 variants for Q9BZL4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1237021325 CA407426778 |
3 | G>E | No |
ClinGen TOPMed |
|
|
rs1320694921 CA407426766 |
4 | E>G | No |
ClinGen gnomAD |
|
|
rs1279213311 CA407426737 |
6 | G>C | No |
ClinGen gnomAD |
|
|
rs1180369182 CA407426719 |
7 | P>Q | No |
ClinGen gnomAD |
|
|
rs1180369182 CA407426718 |
7 | P>R | No |
ClinGen gnomAD |
|
|
rs1260193590 CA407426721 |
7 | P>S | No |
ClinGen TOPMed |
|
|
CA407426711 rs1233105415 |
8 | A>E | No |
ClinGen gnomAD |
|
|
rs1482850860 CA407426716 |
8 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1233105415 CA407426698 |
8 | A>V | No |
ClinGen gnomAD |
|
|
CA407426687 rs1377479389 |
9 | A>D | No |
ClinGen gnomAD |
|
|
CA407426658 rs1304759224 |
11 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1304759224 CA407426653 |
11 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA407426648 rs1485523651 |
12 | G>R | No |
ClinGen TOPMed |
|
|
CA407426623 rs1353944920 |
13 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1416644228 CA407426607 |
14 | A>T | No |
ClinGen TOPMed |
|
|
rs1424305645 CA407426598 |
14 | A>V | No |
ClinGen gnomAD |
|
|
rs1474080205 CA407426581 |
15 | A>G | No |
ClinGen gnomAD |
|
|
rs1163905458 CA407426593 |
15 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA407426579 rs1474080205 |
15 | A>V | No |
ClinGen gnomAD |
|
|
rs1415716741 CA407426562 |
16 | A>V | No |
ClinGen gnomAD |
|
|
rs1480107325 CA407426553 |
17 | A>T | No |
ClinGen gnomAD |
|
|
rs1056617231 CA310120895 |
18 | A>V | No |
ClinGen TOPMed |
|
|
CA407426505 rs1200039222 |
19 | R>L | No |
ClinGen gnomAD |
|
|
CA407426506 rs1200039222 |
19 | R>Q | No |
ClinGen gnomAD |
|
|
rs1310635145 CA407426498 |
20 | E>Q | No |
ClinGen TOPMed |
|
|
rs1459461835 CA407426473 |
21 | R>W | No |
ClinGen gnomAD |
|
|
rs1259226460 CA407426434 |
23 | R>L | No |
ClinGen gnomAD |
|
|
rs1320232753 CA407426395 |
25 | Q>H | No |
ClinGen gnomAD |
|
|
CA407426340 rs1321847604 |
29 | W>* | No |
ClinGen gnomAD |
|
|
rs1371153920 CA407426270 |
34 | G>S | No |
ClinGen TOPMed |
|
|
rs908080954 CA310120891 |
38 | G>S | No |
ClinGen TOPMed |
|
|
rs930653942 CA310120888 |
39 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs922039970 CA310120886 |
39 | P>L | No |
ClinGen TOPMed |
|
|
rs930653942 CA407426179 |
39 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761580796 CA9667192 |
41 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239567498 CA407426119 |
42 | R>C | No |
ClinGen TOPMed |
|
|
rs572616835 CA9667191 |
44 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA310120882 rs912410451 |
45 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA407426042 rs1440948149 |
47 | V>I | No |
ClinGen TOPMed |
|
|
rs1325078929 CA407425946 |
51 | R>L | No |
ClinGen gnomAD |
|
|
CA407425927 rs1456338843 |
53 | A>T | No |
ClinGen gnomAD |
|
|
CA407425868 rs1351332934 |
55 | F>L | No |
ClinGen gnomAD |
|
|
CA407425788 rs1165298049 |
57 | A>V | No |
ClinGen gnomAD |
|
|
rs1394140296 CA407425780 |
58 | A>T | No |
ClinGen TOPMed |
|
|
rs1405396482 CA407425768 |
58 | A>V | No |
ClinGen gnomAD |
|
|
CA407425706 rs1180162427 |
60 | A>V | No |
ClinGen gnomAD |
|
|
CA407425684 rs1352535494 |
61 | G>A | No |
ClinGen TOPMed |
|
|
CA407425691 rs1439726798 |
61 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1439726798 CA407425694 |
61 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1298634263 CA407425593 |
66 | E>* | No |
ClinGen TOPMed |
|
|
rs1377788747 CA407425547 |
67 | A>V | No |
ClinGen TOPMed |
|
|
CA9667190 rs768764037 |
69 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301314140 CA407425463 |
72 | R>C | No |
ClinGen TOPMed |
|
|
CA407425442 rs1370607658 |
73 | A>D | No |
ClinGen TOPMed |
|
|
rs1281175051 CA407425378 |
79 | G>S | No |
ClinGen TOPMed |
|
|
CA407425360 rs1458337848 |
80 | A>V | No |
ClinGen gnomAD |
|
|
rs1204466839 CA407425337 |
82 | L>F | No |
ClinGen TOPMed |
|
|
CA310120875 rs1030909322 |
83 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1459458720 CA407425320 |
84 | P>S | No |
ClinGen TOPMed |
|
|
rs1478188335 CA407425263 |
89 | P>R | No |
ClinGen TOPMed |
|
|
CA310120872 rs967720011 |
90 | A>T | No |
ClinGen TOPMed |
|
|
rs1409117998 CA407425248 |
91 | R>C | No |
ClinGen TOPMed |
|
|
CA407425235 rs1170847006 |
92 | A>V | No |
ClinGen TOPMed |
|
|
CA310120866 rs1012015103 |
95 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1302768709 CA407425214 |
95 | D>Y | No |
ClinGen gnomAD |
|
|
rs1369704344 CA407425199 |
96 | S>Y | No |
ClinGen gnomAD |
|
|
rs1293869118 CA407425188 |
97 | T>N | No |
ClinGen gnomAD |
|
|
rs1252749881 CA407425174 |
98 | N>T | No |
ClinGen gnomAD |
|
|
CA407425169 rs1160022321 |
99 | A>T | No |
ClinGen gnomAD |
|
|
CA407425156 rs1393954074 |
100 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA407425155 rs1393954074 |
100 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1431921477 CA407425141 |
101 | G>D | No |
ClinGen gnomAD |
|
|
rs1485718158 CA407425118 |
103 | S>N | No |
ClinGen gnomAD |
|
|
rs1284337409 CA407425109 |
104 | A>S | No |
ClinGen gnomAD |
|
|
rs1218982535 CA407425100 |
104 | A>V | No |
ClinGen gnomAD |
|
|
CA407425098 rs1354768348 |
105 | L>M | No |
ClinGen gnomAD |
|
|
rs759038069 CA9667167 |
110 | I>T | No |
ClinGen ExAC |
|
|
rs1348760830 CA407423704 |
110 | I>V | No |
ClinGen TOPMed |
|
|
CA407423688 rs1200948754 |
111 | D>V | No |
ClinGen gnomAD |
|
|
CA407423695 rs1244950046 |
111 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA407423683 rs1409268050 |
112 | E>K | No |
ClinGen TOPMed |
|
|
rs1603007600 CA407423655 |
114 | L>M | No |
ClinGen Ensembl |
|
|
CA407423629 rs1603007585 |
116 | V>G | No |
ClinGen Ensembl |
|
|
rs563546776 CA9667166 |
117 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9667164 rs142080632 |
118 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407423610 rs1213998737 |
118 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1213998737 CA407423608 |
118 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs142080632 CA9667165 |
118 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9667163 rs769134366 |
123 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217845023 CA407423556 |
123 | Q>R | No |
ClinGen TOPMed |
|
|
CA9667162 rs768950556 |
124 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs780603817 CA9667160 |
125 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9667159 rs756614673 |
126 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1182264743 CA407423504 |
128 | N>K | No |
ClinGen TOPMed |
|
|
CA9667157 rs781286398 |
128 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298040335 CA407423491 |
130 | A>V | No |
ClinGen gnomAD |
|
|
CA407423468 rs1603007461 |
133 | E>G | No |
ClinGen Ensembl |
|
|
CA407423471 rs1603007466 |
133 | E>K | No |
ClinGen Ensembl |
|
|
CA407423448 rs1389546458 |
136 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9667154 rs145116714 |
136 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 141 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9667151 rs765132319 |
142 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA407423409 rs1422640339 |
142 | A>V | No |
ClinGen gnomAD |
|
|
CA9667150 rs139315383 |
143 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310119018 rs1024441822 |
145 | G>A | No |
ClinGen Ensembl |
|
|
rs776034597 CA9667149 |
146 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA9667147 rs772905991 |
148 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs771708445 CA9667145 |
148 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772905991 CA9667146 |
148 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs572001448 CA9667144 |
149 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202214879 CA9667142 COSM1001392 |
150 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1455822068 CA407423363 |
150 | A>V | No |
ClinGen gnomAD |
|
|
CA407423342 rs1320368857 |
152 | Y>H | No |
ClinGen gnomAD |
|
|
CA407423340 rs1603007093 |
152 | Y>S | No |
ClinGen Ensembl |
|
|
rs775750659 CA9667125 |
157 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1272408814 CA407423303 |
158 | A>T | No |
ClinGen TOPMed |
|
|
rs929133017 CA310118948 |
159 | N>I | No |
ClinGen TOPMed |
|
|
CA407423292 rs746378307 |
159 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs929133017 CA407423294 |
159 | N>T | No |
ClinGen TOPMed |
|
|
rs139818172 CA9667121 |
161 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs150636628 CA9667119 |
162 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778583495 CA9667117 |
163 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778583495 CA9667116 |
163 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9667115 rs754858541 |
164 | N>S | No |
ClinGen ExAC |
|
|
rs780079854 CA9667113 |
166 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1603006936 CA407423246 |
167 | G>R | No |
ClinGen Ensembl |
|
|
CA9667109 rs761462356 |
168 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9667110 rs761462356 |
168 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9667111 rs749959033 |
168 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs749959033 CA9667112 |
168 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA310118925 rs368107107 |
170 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs751167555 CA9667108 |
171 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs376375476 CA9667107 |
174 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760014683 CA9667106 |
175 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9667105 rs530796599 |
176 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407423186 rs374885966 |
177 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407423193 rs1320330549 |
177 | D>N | No |
ClinGen gnomAD |
|
|
CA9667102 rs773426543 |
178 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000882528 CA9667100 rs116840455 |
179 | M>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs779261538 CA407423178 |
179 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779261538 CA9667099 |
179 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9667101 rs116840455 |
179 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407423137 rs1374028315 |
185 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 186 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407423133 rs1603006780 |
186 | E>G | No |
ClinGen Ensembl |
|
|
rs750296515 CA407423114 |
189 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407423113 rs1418784432 |
189 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs750296515 CA9667094 |
189 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9667093 rs143271686 |
190 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407500223 rs1408986667 |
191 | G>D | No |
ClinGen gnomAD |
|
|
CA407500212 rs1226501161 |
192 | V>M | No |
ClinGen gnomAD |
|
|
CA9667072 rs199900093 |
193 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407500070 rs2532060 |
195 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759800562 CA310119533 |
197 | A>T | No |
ClinGen Ensembl |
|
|
CA407499952 rs1255534032 |
199 | R>Q | No |
ClinGen gnomAD |
|
|
COSM3713047 CA310119529 rs965220723 |
199 | R>W | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA407499913 rs1198844018 |
201 | E>K | No |
ClinGen gnomAD |
|
|
CA310119519 rs868012018 |
207 | H>Y | No |
ClinGen Ensembl |
|
|
CA9667068 rs764967403 |
209 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA407499595 rs1431498160 |
210 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA407499586 rs1602992423 |
211 | C>G | No |
ClinGen Ensembl |
|
|
COSM1221727 rs774521264 CA9667063 |
217 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA407499237 rs1292137694 |
220 | E>K | No |
ClinGen TOPMed |
|
|
CA407499138 rs763251993 |
222 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9667061 COSM1001391 rs763251993 |
222 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9667062 rs142523925 |
222 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9667058 rs370156392 |
225 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776391214 CA9667057 |
225 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 227 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243832862 CA407498911 |
229 | S>C | No |
ClinGen gnomAD |
|
|
rs757901789 CA9667053 |
232 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1568814460 CA407498754 |
235 | A>V | No |
ClinGen Ensembl |
|
|
CA407498727 rs1196197701 |
236 | A>V | No |
ClinGen gnomAD |
|
|
rs1263261115 CA407498685 |
238 | G>S | No |
ClinGen gnomAD |
|
|
CA9667051 rs778746272 |
240 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1023163912 CA310119452 |
240 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1246551581 CA407498649 |
240 | I>V | No |
ClinGen gnomAD |
|
|
rs1446678747 CA407498534 |
242 | V>A | No |
ClinGen gnomAD |
|
|
CA407498531 rs1446678747 |
242 | V>G | No |
ClinGen gnomAD |
|
|
CA407496047 rs1388506041 |
249 | A>D | No |
ClinGen TOPMed |
|
|
rs773087357 CA407495935 |
252 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9667037 rs773087357 |
252 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1602985472 CA407495929 |
252 | D>V | No |
ClinGen Ensembl |
|
|
CA407495900 rs1338150136 |
253 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA407495863 rs1159006713 |
254 | E>D | No |
ClinGen gnomAD |
|
|
CA9667036 rs772012344 |
256 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1396500 rs1224522177 CA407495846 |
256 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1293460806 CA407495822 |
258 | G>R | No |
ClinGen TOPMed |
|
|
rs1214021996 CA407495773 |
261 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 262 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206228600 CA407495757 |
263 | P>H | No |
ClinGen gnomAD |
|
|
rs768453946 CA407495754 |
264 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781630779 CA9667030 |
266 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA407495737 rs1346561232 |
266 | A>V | No |
ClinGen gnomAD |
|
|
CA407495730 rs1398387336 |
268 | A>T | No |
ClinGen gnomAD |
|
|
rs950003693 CA310117298 |
269 | H>Q | No |
ClinGen TOPMed |
|
|
CA9667028 rs200144525 |
269 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407495698 rs1319130163 |
270 | W>* | No |
ClinGen gnomAD |
|
|
rs1440705985 CA407495680 |
271 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1476413559 CA407495667 |
272 | V>A | No |
ClinGen TOPMed |
|
|
CA9667026 COSM3423175 rs569277962 |
272 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs752799308 CA9667025 |
277 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9667024 rs765264618 |
277 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA310117285 rs765264618 |
277 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765264618 CA407495591 |
277 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407495525 rs754114232 |
281 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754114232 CA9667022 |
281 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9667019 rs773034958 |
284 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA407495444 rs1313181678 |
285 | G>V | No |
ClinGen TOPMed |
|
|
rs761801728 CA9667017 |
286 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA9667018 rs771923906 |
286 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1261757632 CA407495392 |
288 | S>T | No |
ClinGen gnomAD |
|
|
CA9667014 rs768223326 |
291 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs748794982 CA9667013 |
292 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1444040659 | 293 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9666993 rs775044714 |
293 | G>R | No |
ClinGen ExAC TOPMed |
|
|
rs1354905294 CA407495232 |
295 | R>H | No |
ClinGen gnomAD |
|
|
rs1403310792 CA407495209 |
297 | C>S | No |
ClinGen gnomAD |
|
|
CA407495178 rs773457762 |
301 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666990 rs773457762 |
301 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407495163 rs1380182147 |
303 | E>K | No |
ClinGen gnomAD |
|
|
CA9666989 rs145564651 |
306 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310117199 rs956444109 |
306 | S>R | No |
ClinGen TOPMed |
|
|
rs145564651 CA9666988 |
306 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407495053 rs1294007922 |
312 | A>T | No |
ClinGen gnomAD |
|
|
CA9666986 rs755467091 |
313 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666985 rs749343076 COSM1001390 |
313 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9666987 rs755467091 |
313 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666984 rs780116569 |
315 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1025850140 CA310115240 |
318 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA407492443 rs201139942 |
319 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201139942 CA9666958 |
319 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1602978838 CA407492452 |
319 | R>W | No |
ClinGen Ensembl |
|
|
rs765058608 CA9666956 |
321 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA407492383 rs759156073 |
321 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666955 rs759156073 |
321 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766036107 CA9666953 |
322 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs766036107 CA9666954 |
322 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760256920 CA9666952 |
322 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs774731090 CA9666951 |
323 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325419638 CA407492368 |
323 | E>K | No |
ClinGen gnomAD |
|
|
rs769016882 CA9666950 |
326 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs202008761 CA407492210 |
328 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200106781 CA9666948 |
328 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200106781 CA9666947 |
328 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202008761 COSM1526398 CA9666949 |
328 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA310115224 rs905204640 |
330 | Q>R | No |
ClinGen gnomAD |
|
|
CA407492111 rs1468758946 |
331 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs898692203 CA310115222 |
331 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1164640129 CA407492101 |
332 | P>S | No |
ClinGen TOPMed |
|
|
rs781360589 CA9666945 |
333 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM193189 rs771280782 CA9666944 |
334 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 335 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407492019 rs1385123728 |
336 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA310115217 rs1046597727 |
337 | S>T | No |
ClinGen Ensembl |
|
|
rs1039836207 CA310115215 |
339 | K>Q | No |
ClinGen TOPMed |
|
|
CA9666942 rs777729269 |
339 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310115174 rs1044220036 |
344 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9666912 rs756800736 |
347 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1247480692 CA407491690 |
347 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1318685099 CA407491660 |
349 | S>G | No |
ClinGen TOPMed |
|
|
rs1175211969 CA407491644 |
349 | S>R | No |
ClinGen gnomAD |
|
|
CA9666908 rs760139609 |
351 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407491611 rs1602978246 |
351 | R>H | No |
ClinGen Ensembl |
|
|
rs766957445 CA9666906 |
352 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs777322752 CA9666907 |
352 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407491603 rs777322752 |
352 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1301546955 | 353 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322911629 COSM263071 CA407491585 |
353 | K>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA310115164 rs371858407 |
354 | I>L | No |
ClinGen ESP |
|
|
rs1426561681 CA407491561 |
355 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 358 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157921671 CA407491516 |
358 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1479741301 CA407491469 |
360 | S>P | No |
ClinGen TOPMed |
|
|
CA9666904 rs773111892 |
361 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA407491448 rs1177018310 |
361 | K>R | No |
ClinGen TOPMed |
|
|
CA9666902 rs748281333 CA407491415 |
362 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666901 rs140456089 |
363 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9666899 rs749053309 |
364 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs768490350 CA9666900 |
364 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9666898 rs780033063 |
365 | P>A | No |
ClinGen ExAC TOPMed |
|
|
CA407491348 rs1568807986 |
366 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 367 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407491341 rs1490351688 |
367 | G>R | No |
ClinGen gnomAD |
|
|
CA407491323 rs1205036644 |
368 | A>T | No |
ClinGen gnomAD |
|
|
rs1428067509 CA407491292 |
369 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 370 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756031415 CA9666897 |
370 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756963072 CA9666894 |
371 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs756963072 CA407491250 |
371 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9666896 rs780500451 |
371 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA9666895 rs780500451 |
371 | P>T | No |
ClinGen ExAC TOPMed |
|
|
CA407491234 rs1281535334 |
372 | P>S | No |
ClinGen gnomAD |
|
|
rs35641913 CA407491142 |
375 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs991338054 CA407491160 |
375 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs991338054 CA310115146 |
375 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA407491121 rs755429378 |
376 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1387001727 CA407491133 |
376 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9666890 rs755429378 |
376 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1469048916 CA407491051 |
378 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1181553389 CA407491061 |
378 | E>G | No |
ClinGen gnomAD |
|
|
CA407490954 rs1480587325 |
382 | G>A | No |
ClinGen gnomAD |
|
|
CA9666888 rs767010711 |
382 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761199182 CA9666887 |
384 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9666886 rs534791014 |
384 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148658340 CA9666884 |
385 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs148658340 CA407490897 |
385 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA310115110 rs374556912 |
386 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA9666861 rs569940225 |
387 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764312985 CA407490735 |
387 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764312985 CA9666862 |
387 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407490707 rs1225330585 |
388 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 388 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225330585 CA407490705 |
388 | P>S | No |
ClinGen TOPMed |
|
|
CA9666859 rs769527456 |
390 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA310115102 rs925452595 |
391 | P>L | No |
ClinGen gnomAD |
|
|
rs759350705 CA9666858 |
392 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs776469590 CA9666857 |
393 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9666854 rs777355794 |
394 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1443891283 CA407490429 |
395 | N>H | No |
ClinGen gnomAD |
|
|
rs771884138 CA9666853 |
395 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 396 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442354722 CA407490372 |
396 | G>D | No |
ClinGen TOPMed |
|
|
CA407490388 rs1421216480 |
396 | G>S | No |
ClinGen TOPMed |
|
|
CA9666852 rs182130382 |
397 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407490353 rs182130382 |
397 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778687136 CA9666851 |
398 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA9666848 rs539068589 |
399 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407490276 rs539068589 |
399 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9666850 rs756478153 |
399 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs539068589 CA9666849 |
399 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1175807481 CA407490258 |
400 | P>L | No |
ClinGen gnomAD |
|
|
rs757724527 CA9666847 |
400 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs763184433 CA9666844 |
401 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1252738123 CA407490247 |
401 | P>T | No |
ClinGen gnomAD |
|
|
CA407490228 rs1430120589 |
402 | H>Y | No |
ClinGen TOPMed |
|
|
rs1289452907 CA407490170 |
404 | S>G | No |
ClinGen TOPMed |
|
|
rs1043745092 CA310115085 |
405 | P>L | No |
ClinGen TOPMed |
|
|
rs1244028154 CA407490061 |
406 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs946675925 CA310115082 |
407 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9666839 rs200041199 |
408 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 409 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177077828 CA407489555 |
410 | Q>L | No |
ClinGen gnomAD |
|
|
CA9666811 rs776880358 |
413 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs771374523 CA9666810 |
414 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9666808 rs201640646 |
415 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201640646 CA9666809 |
415 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407489328 rs1339579852 |
416 | F>L | No |
ClinGen TOPMed |
|
|
rs35849605 VAR_048310 CA9666807 |
419 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs368299707 CA9666806 |
419 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA310114982 rs368299707 |
419 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA407489290 rs35849605 |
419 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs561720084 CA9666805 |
421 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866291154 CA310114978 |
422 | L>H | No |
ClinGen Ensembl |
|
|
CA9666803 rs754141456 |
422 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1305240775 CA407489163 |
423 | L>P | No |
ClinGen gnomAD |
|
|
CA9666801 rs756041093 |
427 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA9666800 rs750231915 |
428 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA407488946 rs1404808294 |
430 | A>V | No |
ClinGen gnomAD |
|
|
CA407488884 rs1602976491 |
433 | P>L | No |
ClinGen Ensembl |
|
|
CA407488898 rs1371385613 |
433 | P>T | No |
ClinGen gnomAD |
|
|
CA310114968 rs904093926 |
434 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA407488869 rs904093926 |
434 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA407488828 rs1372724558 |
436 | R>G | No |
ClinGen TOPMed |
|
|
CA310114964 rs763610881 |
437 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666796 rs763610881 |
437 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666797 rs773764451 |
437 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666795 rs372006702 |
439 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1568807163 CA407488682 |
441 | G>E | No |
ClinGen Ensembl |
|
|
CA407488660 rs769323887 |
442 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666793 rs769323887 |
442 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407488410 rs866828610 |
449 | R>C | No |
ClinGen TOPMed |
|
|
CA407488405 rs1205185628 |
449 | R>H | No |
ClinGen gnomAD |
|
|
CA310114956 rs866828610 |
449 | R>S | No |
ClinGen TOPMed |
|
|
rs369646112 CA9666791 |
450 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1050830685 CA310114954 |
450 | S>P | No |
ClinGen Ensembl |
|
|
rs369646112 CA407488368 |
450 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407488265 rs1602976319 |
453 | S>F | No |
ClinGen Ensembl |
|
|
COSM1001389 TCGA novel CA9666790 rs772602704 |
455 | W>* | Variant assessed as Somatic; 0.0 impact. endometrium Variant assessed as Somatic; impact. [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9666789 rs374902588 |
456 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA407488121 rs1391011334 |
457 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA407488115 rs1391011334 |
457 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9666788 rs375991934 |
459 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1365108610 CA407487974 |
462 | Q>K | No |
ClinGen gnomAD |
|
|
CA9666774 rs762587386 |
464 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310114918 rs568157388 |
466 | L>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1413998089 CA407487680 |
466 | L>V | No |
ClinGen gnomAD |
|
|
rs370400749 CA9666773 |
467 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9666772 rs764881065 COSM3713046 |
467 | R>H | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1451700314 CA407487537 |
469 | A>P | No |
ClinGen gnomAD |
|
|
rs1451700314 CA407487538 |
469 | A>T | No |
ClinGen gnomAD |
|
|
CA9666770 rs773591801 |
470 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407487479 rs1327506392 |
470 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 471 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772476310 CA9666769 |
472 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407487342 rs1323040604 |
473 | P>A | No |
ClinGen gnomAD |
|
|
rs762056914 CA9666768 |
473 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1323040604 CA407487339 |
473 | P>S | No |
ClinGen gnomAD |
|
|
rs779758764 CA310114906 |
474 | T>A | No |
ClinGen Ensembl |
|
|
CA407487298 rs1331763220 |
474 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1331763220 CA407487290 |
474 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs779758764 CA407487319 |
474 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 475 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9666766 rs769031424 |
476 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407487190 rs529514990 |
477 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779932431 CA9666764 |
477 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779932431 CA407487172 |
477 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666765 rs529514990 |
477 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407487154 rs1173984819 |
478 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1404936283 CA407487083 |
479 | L>Q | No |
ClinGen TOPMed |
|
|
CA9666762 rs374745798 |
480 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407486991 rs1193073095 |
482 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA310114897 rs1049401768 |
483 | S>A | No |
ClinGen TOPMed |
|
|
rs751307002 CA9666759 |
483 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1261317464 CA407486756 |
488 | V>L | No |
ClinGen Ensembl |
|
|
rs1254148332 CA407486652 |
491 | P>L | No |
ClinGen TOPMed |
|
|
rs372592192 CA310114736 |
493 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA9666744 rs377524915 |
494 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 496 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285773586 CA407486530 |
496 | E>K | No |
ClinGen gnomAD |
|
|
rs763331146 CA9666743 |
498 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775732875 CA9666742 |
499 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA9666740 rs745911836 |
502 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369559413 CA9666738 |
505 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9666739 rs369559413 |
505 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373932501 CA310114730 |
505 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 506 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9666736 rs377413098 |
506 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1232458943 CA407486232 |
506 | E>G | No |
ClinGen gnomAD |
|
|
CA407486246 rs1473343436 |
506 | E>K | No |
ClinGen gnomAD |
|
|
rs1473343436 CA407486245 |
506 | E>Q | No |
ClinGen gnomAD |
|
|
rs34972456 CA407486203 |
507 | P>H | No |
ClinGen TOPMed |
|
|
rs34972456 CA310114727 |
507 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 508 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9666734 rs748089061 |
509 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407486139 rs748089061 |
509 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221610107 CA407486130 |
510 | P>A | No |
ClinGen gnomAD |
|
|
CA9666733 rs373151753 |
511 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9666731 rs753337144 |
512 | K>R | No |
ClinGen ExAC |
|
|
CA9666730 rs78085086 |
514 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1372347061 CA407485981 |
515 | V>A | No |
ClinGen gnomAD |
|
|
CA9666729 rs755655737 |
517 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs764318597 CA407485850 |
520 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs764318597 CA9666727 |
520 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA9666726 rs763353251 |
521 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9666725 rs142994105 |
522 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759747513 CA9666723 |
524 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776790606 CA9666722 |
525 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9666721 rs771184538 |
527 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1198723390 CA407485601 |
528 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1487551917 CA407485564 |
529 | R>G | No |
ClinGen gnomAD |
|
|
rs771805284 CA9666719 |
529 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666720 rs771805284 |
529 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771805284 CA9666718 |
529 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1316102582 CA407485539 |
530 | R>Q | No |
ClinGen gnomAD |
|
|
rs141058127 CA9666716 |
530 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753112450 CA9666689 |
535 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407484048 rs1351169558 |
535 | M>L | No |
ClinGen TOPMed |
|
|
rs147320612 CA9666688 |
536 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147320612 CA310114633 |
536 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754442993 CA9666686 |
537 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407484001 rs754442993 |
537 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407483963 rs1484005173 |
538 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA407483955 rs1203135964 |
539 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1273097564 CA407483935 |
540 | E>K | No |
ClinGen gnomAD |
|
|
rs1231326793 CA407483892 |
541 | E>* | No |
ClinGen gnomAD |
|
|
rs562026249 CA407483891 |
541 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs562026249 CA9666684 |
541 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9666682 rs767638972 |
545 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9666681 rs761984310 |
547 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 550 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1526399 rs774155396 CA9666680 |
551 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1170401591 CA407483646 |
551 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 552 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407483583 rs1251976987 |
554 | R>L | No |
ClinGen TOPMed |
|
|
CA310114622 rs372439178 |
557 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA407483456 rs775356044 |
561 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666677 rs775356044 |
561 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770610718 CA9666643 |
562 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 562 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 564 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391140725 CA407483026 |
565 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 565 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746483392 CA9666642 |
566 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746483392 CA407482998 |
566 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1602970202 CA407482986 |
567 | D>A | No |
ClinGen Ensembl |
|
|
CA9666641 rs771795975 |
568 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs771795975 CA9666640 |
568 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9666638 rs780427157 |
573 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666637 rs756602850 |
573 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9666636 rs143084391 |
575 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9666635 rs781643455 |
575 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1194973050 CA407482797 |
576 | G>V | No |
ClinGen gnomAD |
|
|
rs757393360 CA9666634 |
578 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666631 rs764313032 |
585 | A>E | No |
ClinGen ExAC |
|
|
CA407482610 rs764313032 |
585 | A>G | No |
ClinGen ExAC |
|
|
rs1273194477 CA407482599 |
586 | Q>R | No |
ClinGen gnomAD |
|
|
rs752462715 CA9666629 |
587 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA407482581 rs752462715 |
587 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA9666630 rs752462715 |
587 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs765030172 CA9666628 |
588 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs760652845 CA9666605 |
589 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA310114411 rs942279716 |
589 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA407482457 rs1365246336 |
590 | P>H | No |
ClinGen TOPMed |
|
|
CA310114409 rs113908581 |
590 | P>T | No |
ClinGen gnomAD |
|
|
CA407482443 rs1168804316 |
592 | R>* | No |
ClinGen gnomAD |
|
|
rs749976198 CA9666604 |
592 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9666601 rs774121657 |
595 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774121657 CA407482417 |
595 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666600 rs376301631 |
595 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9666599 rs376301631 |
595 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs540022262 CA9666598 |
596 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9666595 rs778227427 |
597 | P>L | No |
ClinGen ExAC TOPMed |
|
|
rs1273659194 CA407482403 |
597 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs780914415 CA310114400 |
598 | G>V | No |
ClinGen Ensembl |
|
|
rs1242883272 CA407482379 |
599 | V>A | No |
ClinGen gnomAD |
|
|
CA407482387 rs1193338621 |
599 | V>M | No |
ClinGen TOPMed |
|
|
rs772230789 CA9666594 |
600 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9666593 rs748169165 |
602 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs909434587 CA310114397 |
605 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs755091587 CA9666590 |
606 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753721742 CA9666589 |
606 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9666588 rs137981480 |
607 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755951106 CA9666587 |
608 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1157297987 CA407482185 |
609 | A>V | No |
ClinGen gnomAD |
|
|
rs568988371 CA9666564 |
612 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407482138 rs1408864834 |
612 | P>S | No |
ClinGen gnomAD |
|
|
CA407482123 rs939996057 |
613 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1001885599 CA407482130 |
613 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA310114357 rs1001885599 |
613 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs763459937 CA9666562 |
614 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310114353 rs1025170316 |
616 | G>C | No |
ClinGen TOPMed |
|
|
CA407482087 rs1316964166 |
617 | P>L | No |
ClinGen gnomAD |
|
|
CA310114350 rs888453132 |
621 | A>T | No |
ClinGen TOPMed |
|
|
CA9666560 rs752386250 |
621 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867747001 CA310114347 |
622 | A>S | No |
ClinGen gnomAD |
|
|
rs867747001 CA407482027 |
622 | A>T | No |
ClinGen gnomAD |
|
|
rs1455572684 CA407481963 |
625 | H>Q | No |
ClinGen gnomAD |
|
|
CA9666558 rs374417640 |
625 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1346040982 CA407481959 |
626 | R>C | No |
ClinGen gnomAD |
|
|
CA407481947 rs773384260 |
626 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9666557 rs773384260 |
626 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1353661479 CA407481942 |
627 | K>Q | No |
ClinGen TOPMed |
|
|
CA9666556 rs368987700 |
628 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1294174396 CA407481896 |
630 | K>E | No |
ClinGen TOPMed |
|
|
rs1448630492 CA407481890 |
630 | K>R | No |
ClinGen gnomAD |
|
|
rs1006305878 CA310114342 |
631 | E>K | No |
ClinGen TOPMed |
|
|
rs76507214 CA310114340 |
632 | W>G | No |
ClinGen Ensembl |
|
|
rs375785615 CA9666555 |
634 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1255079386 CA407481812 |
635 | P>H | No |
ClinGen gnomAD |
|
|
CA407481817 rs768901309 |
635 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768901309 CA9666553 |
635 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198139590 CA407481711 CA407481713 |
638 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA407481715 rs1198139590 |
638 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs553651907 CA310114301 |
639 | E>D | No |
ClinGen gnomAD |
|
|
CA407481674 rs1243111109 |
640 | E>A | No |
ClinGen gnomAD |
|
|
CA407481672 rs1243111109 |
640 | E>G | No |
ClinGen gnomAD |
|
|
rs546483263 CA9666528 |
640 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9666527 rs776885787 |
641 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA407481621 rs866652278 |
643 | P>L | No |
ClinGen gnomAD |
|
|
rs866652278 CA310114296 |
643 | P>Q | No |
ClinGen gnomAD |
|
|
rs1227793857 CA407481598 |
645 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1227793857 CA407481596 |
645 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA407481583 rs1348781448 |
646 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs187012282 CA407481581 |
646 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9666526 rs187012282 |
646 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187012282 CA9666525 |
646 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1348781448 CA407481586 |
646 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9666524 rs777628046 |
647 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA407481567 rs777628046 |
647 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA407481458 rs1192380663 |
652 | T>I | No |
ClinGen gnomAD |
|
|
CA9666505 rs748133844 |
652 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768117989 CA9666503 |
653 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310114260 rs768585035 |
654 | E>D | No |
ClinGen Ensembl |
|
|
rs1188360638 CA407481453 |
654 | E>K | No |
ClinGen gnomAD |
|
|
CA9666502 rs200760446 |
655 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407481446 rs1445441867 |
655 | G>R | No |
ClinGen gnomAD |
|
|
CA407481438 rs1344483998 |
656 | G>D | No |
ClinGen gnomAD |
|
|
rs751898536 CA9666499 |
657 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA407480039 rs751898536 |
657 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9666500 rs755728440 |
657 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs765833938 CA9666495 |
659 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407480020 rs1327774481 |
659 | A>T | No |
ClinGen gnomAD |
|
|
rs765833938 CA407480004 |
659 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759592134 CA9666494 |
660 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167321601 CA407479974 |
661 | R>K | No |
ClinGen TOPMed |
|
|
rs766512009 CA9666492 CA407479945 |
662 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA407479935 rs1168286113 |
663 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9666491 rs760904606 |
663 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474632005 CA407479879 |
665 | Q>P | No |
ClinGen gnomAD |
|
|
rs374636098 CA407479873 |
666 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771894836 CA407479867 |
666 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771894836 CA9666489 |
666 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666490 rs374636098 |
666 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774335028 CA310114243 |
667 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs774335028 CA9666486 |
667 | D>Y | No |
ClinGen ExAC TOPMed |
|
|
CA9666484 rs748755584 |
668 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666485 rs748755584 |
668 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745562251 CA9666482 |
670 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666481 rs745562251 |
670 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666483 rs775028111 |
670 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371437059 CA310114237 |
672 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9666480 rs371437059 |
672 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs758896679 CA9666479 |
674 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1341298334 CA407479697 |
675 | E>Q | No |
ClinGen gnomAD |
|
|
rs1270400181 CA407479665 |
676 | S>W | No |
ClinGen gnomAD |
|
|
CA407479661 rs1243682788 |
677 | E>K | No |
ClinGen gnomAD |
|
|
rs1602967946 CA407479638 |
678 | E>Q | No |
ClinGen Ensembl |
|
|
CA407479592 rs1602967933 |
680 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 681 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407479512 rs1414877984 |
684 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA407479509 rs1414877984 |
684 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA407479475 rs1308029935 |
685 | T>M | No |
ClinGen gnomAD |
|
|
CA9666439 rs145289973 |
687 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780625542 CA9666438 |
690 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666437 rs770222759 |
691 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs201585471 CA9666436 |
691 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310114178 rs996713399 |
693 | E>D | No |
ClinGen TOPMed |
|
|
rs781202887 CA9666435 |
693 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA310114175 rs140226007 |
694 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9666434 rs757308192 |
694 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758268194 CA407479166 |
695 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9666432 COSM1001384 rs146764513 |
695 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA407479179 rs146764513 |
695 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407479159 rs1306036735 |
696 | R>W | No |
ClinGen gnomAD |
|
|
rs375084368 CA9666430 |
697 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1361448614 CA407479146 |
697 | L>P | No |
ClinGen gnomAD |
|
|
CA9666429 rs765270058 |
698 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1003533607 CA310114170 |
698 | R>L | No |
ClinGen Ensembl |
|
|
CA407479131 rs1345909309 |
699 | E>K | No |
ClinGen gnomAD |
|
|
CA9666427 rs753420266 |
700 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467371332 CA407479080 |
703 | E>D | No |
ClinGen TOPMed |
|
|
CA9666423 rs771567964 |
704 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1193562666 CA407479058 |
705 | T>A | No |
ClinGen TOPMed |
|
|
CA407479052 rs1448649608 |
705 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs763383987 CA9666422 |
706 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA407479024 rs1485897225 |
707 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA407478998 rs1208147077 |
709 | A>T | No |
ClinGen gnomAD |
|
|
CA9666421 rs775681286 |
709 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9666420 rs770310511 |
710 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs781639038 CA407478977 CA9666418 |
710 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478737074 CA407478985 |
710 | Q>P | No |
ClinGen TOPMed |
|
|
CA407478967 rs1307339264 |
711 | L>H | No |
ClinGen gnomAD |
|
|
CA310114159 rs922401461 |
713 | V>G | No |
ClinGen Ensembl |
|
|
rs1293670898 CA407478931 |
714 | E>Q | No |
ClinGen gnomAD |
|
|
CA407478913 rs1216586050 |
715 | L>P | No |
ClinGen gnomAD |
|
|
rs1054586402 CA310114156 |
718 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9666415 rs778066902 |
719 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310114046 rs370039898 |
721 | R>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA407478628 rs1309069729 |
724 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA407478630 rs1309069729 |
724 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9666395 rs773125943 |
726 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9666396 rs773125943 |
726 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9666393 rs748366996 |
729 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407478534 rs748366996 |
729 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310114038 rs1020512840 |
731 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 733 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407478447 rs1398807170 |
734 | L>V | No |
ClinGen TOPMed |
|
|
rs1362554238 CA407478412 |
736 | R>G | No |
ClinGen gnomAD |
|
|
CA9666391 rs754880291 |
737 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1237080789 CA407478230 |
738 | E>D | No |
ClinGen TOPMed |
|
|
rs558485178 CA9666362 |
739 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs558485178 CA407478229 |
739 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407478224 rs1318359712 |
739 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1413632110 CA407478216 |
740 | R>G | No |
ClinGen gnomAD |
|
|
rs1375309664 CA407478181 |
741 | A>V | No |
ClinGen gnomAD |
|
|
CA310113991 rs1048934703 |
742 | L>V | No |
ClinGen TOPMed |
|
|
rs373087491 CA9666361 |
744 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373087491 CA407478145 |
744 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766702126 CA9666359 |
744 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766702126 CA9666360 |
744 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373087491 CA407478144 |
744 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1167723935 CA407478101 |
746 | A>T | No |
ClinGen gnomAD |
|
|
CA407478092 rs1474528297 |
746 | A>V | No |
ClinGen gnomAD |
|
|
CA407478079 rs768010986 |
747 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768010986 CA9666356 |
747 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA407478047 rs1474954875 |
748 | E>G | No |
ClinGen gnomAD |
|
|
rs1602965740 CA407477955 |
752 | E>G | No |
ClinGen Ensembl |
|
|
CA407477917 rs1376141839 |
754 | K>R | No |
ClinGen TOPMed |
|
|
rs747600217 CA9666321 |
756 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1254511631 CA407477706 |
759 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1254511631 CA407477707 |
759 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9666319 rs140838315 |
760 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9666317 rs200677433 |
760 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200677433 CA9666318 |
760 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752182487 CA9666315 |
761 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994474731 CA310113941 |
762 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 762 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407477582 rs1234023684 |
763 | N>K | No |
ClinGen gnomAD |
|
|
CA407477587 rs1310400961 |
763 | N>S | No |
ClinGen gnomAD |
|
|
CA407477571 rs1368975826 |
764 | Q>P | No |
ClinGen gnomAD |
|
|
CA9666313 rs142871287 |
765 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9666312 rs752751585 |
765 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9666311 rs765406163 |
766 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA407477514 rs1324065676 |
767 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 767 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380851961 CA407477439 |
769 | E>D | No |
ClinGen gnomAD |
|
|
CA407477403 rs1172724171 |
771 | A>T | No |
ClinGen gnomAD |
|
|
COSM3693082 rs1396504637 CA407477374 |
772 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 774 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA310113935 rs548846993 |
774 | I>M | No |
ClinGen 1000Genomes |
|
|
CA407477319 rs1602965293 |
774 | I>T | No |
ClinGen Ensembl |
|
|
CA9666306 rs773190646 |
775 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771931355 CA9666305 COSM193187 |
775 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9666304 rs747643608 |
776 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407477278 rs747643608 |
776 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287381925 CA407477261 |
777 | I>V | No |
ClinGen gnomAD |
|
|
rs1568802592 CA407477193 |
779 | K>R | No |
ClinGen Ensembl |
|
|
rs530315073 CA9666303 |
780 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9666302 rs768030104 |
781 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs373537158 CA310113928 |
782 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with Q9BZL4
3 regional properties for Q9BZL4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Ankyrin repeat | 59 - 165 | IPR002110-1 |
| repeat | Ankyrin repeat | 220 - 291 | IPR002110-2 |
| domain | cGMP-dependent protein kinase, interacting domain | 683 - 782 | IPR031775 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| enzyme inhibitor activity | Binds to and stops, prevents or reduces the activity of an enzyme. |
| phosphatase regulator activity | Binds to and modulates the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule. |
| 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 |
|---|---|
| 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. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O60237 | PPP1R12B | Protein phosphatase 1 regulatory subunit 12B | Homo sapiens (Human) | PR |
| Q96T49 | PPP1R16B | Protein phosphatase 1 regulatory inhibitor subunit 16B | Homo sapiens (Human) | PR |
| Q8BG95 | Ppp1r12b | Protein phosphatase 1 regulatory subunit 12B | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGEDGPAAG | PGAAAAAARE | RRREQLRQWG | ARAGAEPGPG | ERRARTVRFE | RAAEFLAACA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GGDLDEARLM | LRAADPGPGA | ELDPAAPPPA | RAVLDSTNAD | GISALHQACI | DENLEVVRFL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VEQGATVNQA | DNEGWTPLHV | AASCGYLDIA | RYLLSHGANI | AAVNSDGDLP | LDLAESDAME |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GLLKAEIARR | GVDVEAAKRA | EEELLLHDTR | CWLNGGAMPE | ARHPRTGASA | LHVAAAKGYI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EVMRLLLQAG | YDPELRDGDG | WTPLHAAAHW | GVEDACRLLA | EHGGGMDSLT | HAGQRPCDLA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DEEVLSLLEE | LARKQEDLRN | QKEASQSRGQ | EPQAPSSSKH | RRSSVCRLSS | REKISLQDLS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KERRPGGAGG | PPIQDEDEGE | EGPTEPPPAE | PRTLNGVSSP | PHPSPKSPVQ | LEEAPFSRRF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GLLKTGSSGA | LGPPERRTAE | GAPGAGLQRS | ASSSWLEGTS | TQAKELRLAR | ITPTPSPKLP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EPSVLSEVTK | PPPCLENSSP | PSRIPEPESP | AKPNVPTAST | APPADSRDRR | RSYQMPVRDE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ESESQRKARS | RLMRQSRRST | QGVTLTDLKE | AEKAAGKAPE | SEKPAQSLDP | SRRPRVPGVE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NSDSPAQRAE | APDGQGPGPQ | AAREHRKVGK | EWRGPAEGEE | AEPADRSQES | STLEGGPSAR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RQRWQRDLNP | EPEPESEEPD | GGFRTLYAEL | RRENERLREA | LTETTLRLAQ | LKVELERATQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RQERFAERPA | LLELERFERR | ALERKAAELE | EELKALSDLR | ADNQRLKDEN | AALIRVISKL |
| SK |