Q96S38
PR
Gene name |
RPS6KC1 (RPK118) |
Protein name |
Ribosomal protein S6 kinase delta-1 |
Names |
S6K-delta-1, 52 kDa ribosomal protein S6 kinase, Ribosomal S6 kinase-like protein with two PSK domains 118 kDa protein, SPHK1-binding protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26750 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
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
946-966 (Activation loop from InterPro)
Target domain |
794-1056 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1 structures for Q96S38
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96S38-F1 | Predicted | AlphaFoldDB |
845 variants for Q96S38
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1387665 rs61751035 RCV000491199 |
904 | G>S | Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA174552 rs193921071 COSM1178136 RCV000149198 |
1055 | F>L | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1452261433 CA344812096 |
2 | T>I | No |
ClinGen gnomAD |
|
|
CA1387003 rs758603225 |
3 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs758603225 CA1387001 |
3 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs758603225 CA1387002 |
3 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1387004 rs770811305 |
4 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA36912377 rs915475056 |
5 | R>L | No |
ClinGen TOPMed |
|
|
rs915475056 CA344812150 |
5 | R>P | No |
ClinGen TOPMed |
|
|
CA1387007 rs745845443 |
5 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1357449306 CA344812185 |
7 | R>L | No |
ClinGen gnomAD |
|
|
rs1572193114 CA344812202 |
8 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 10 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292928433 CA344812262 |
12 | A>S | No |
ClinGen gnomAD |
|
|
CA344812273 rs1301589030 |
13 | R>C | No |
ClinGen TOPMed |
|
|
rs1558218701 CA344812282 |
13 | R>P | No |
ClinGen Ensembl |
|
|
CA344812298 rs1160102378 |
14 | F>S | No |
ClinGen TOPMed |
|
|
rs1376644443 CA344812311 |
15 | Y>H | No |
ClinGen gnomAD |
|
|
CA1387009 rs774932502 |
16 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA344812378 rs1306903908 |
18 | T>I | No |
ClinGen gnomAD |
|
|
CA1387012 rs373786068 CA344812391 |
19 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1387011 rs763853562 |
19 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1387014 rs766899937 |
20 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761152136 CA1387013 |
20 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs144865741 CA1387015 |
22 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755502592 CA1387016 |
22 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765345008 CA1387017 |
23 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528790309 CA344812445 |
24 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368815923 CA1387019 |
24 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs528790309 CA1387018 |
24 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1387020 rs777998280 |
26 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344812465 rs777998280 |
26 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1387021 rs746753919 |
27 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA344812567 rs1270489534 |
34 | A>V | No |
ClinGen gnomAD |
|
|
CA344812569 rs1361030233 |
35 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1387050 rs776983847 |
39 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs770282885 CA1387052 |
42 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs56087470 CA344798498 |
42 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1387051 rs56087470 VAR_040647 |
42 | P>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1387053 rs775834541 |
46 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA344799584 rs1410025564 |
48 | I>K | No |
ClinGen gnomAD |
|
| TCGA novel | 49 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344799603 rs1306945641 |
49 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1387074 rs770026707 |
50 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA1387073 rs746720778 |
50 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs373067977 CA1387077 |
55 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774349575 CA1387078 |
55 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 58 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761914833 CA1387079 |
58 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs750589957 CA1387081 |
62 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 62 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148829724 CA1387082 |
65 | W>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA344799930 rs1471704842 |
67 | I>V | No |
ClinGen TOPMed |
|
|
CA36905743 rs866335983 |
68 | H>Y | No |
ClinGen Ensembl |
|
|
CA1387083 rs766074020 |
70 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947663016 CA36905761 |
71 | L>F | No |
ClinGen Ensembl |
|
|
rs754894764 CA1387085 |
72 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202093150 CA1387086 COSM1626798 |
73 | R>* | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs752202818 CA1387087 COSM1241685 |
73 | R>Q | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1265149718 CA344800103 |
74 | H>D | No |
ClinGen TOPMed |
|
|
CA344800120 rs1558270521 |
74 | H>R | No |
ClinGen Ensembl |
|
|
CA36905803 rs867016731 |
79 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1387090 rs746640177 |
80 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA344800312 rs1401130849 |
81 | F>L | No |
ClinGen gnomAD |
|
|
CA344800319 rs1395807669 |
82 | A>T | No |
ClinGen gnomAD |
|
|
CA344800349 rs1310947003 |
82 | A>V | No |
ClinGen gnomAD |
|
|
rs1328579091 CA344800376 |
83 | K>E | No |
ClinGen gnomAD |
|
|
CA344800434 rs1377451274 |
85 | I>V | No |
ClinGen TOPMed |
|
|
rs1340094311 CA344800472 |
86 | V>G | No |
ClinGen gnomAD |
|
|
CA344800451 rs1341580520 |
86 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs905868077 CA36905841 |
87 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 88 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 88 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344805830 rs1469713567 |
89 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA344805834 rs1435362272 |
89 | R>Q | No |
ClinGen TOPMed |
|
|
rs1558323237 CA344805928 |
93 | T>I | No |
ClinGen Ensembl |
|
|
rs1390451614 CA344805931 |
94 | V>I | No |
ClinGen TOPMed |
|
|
CA1387113 rs56056039 |
95 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344805959 rs1266002945 |
95 | I>T | No |
ClinGen gnomAD |
|
|
CA344805951 rs1191718546 |
95 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 96 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364062412 CA344805985 |
96 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM903650 VAR_040648 CA1387114 rs56032860 |
96 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA1387115 rs755313697 |
97 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1389325752 CA344806017 |
98 | R>* | No |
ClinGen TOPMed |
|
| TCGA novel | 98 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA36916039 rs1000791116 |
98 | R>T | No |
ClinGen TOPMed |
|
|
rs779290829 CA1387116 |
101 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs748588160 CA36916045 |
104 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773097405 CA1387119 |
105 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1255439112 CA344806159 |
106 | L>P | No |
ClinGen gnomAD |
|
|
rs776968881 CA344806170 |
107 | Q>P | No |
ClinGen ExAC TOPMed |
|
|
rs776968881 CA1387122 |
107 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
CA344806227 rs1236080155 |
111 | N>S | No |
ClinGen TOPMed |
|
|
CA36916055 rs866439738 |
113 | P>S | No |
ClinGen Ensembl |
|
|
CA1387123 rs200402765 |
114 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344806269 rs1558323640 |
114 | A>V | No |
ClinGen Ensembl |
|
|
rs1222169861 CA344806281 |
115 | L>R | No |
ClinGen gnomAD |
|
|
CA1387124 COSM1224266 rs374091106 |
115 | L>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA36916064 rs1008424132 |
116 | Y>C | No |
ClinGen TOPMed |
|
|
rs1264830429 CA344806285 |
116 | Y>H | No |
ClinGen gnomAD |
|
|
rs1487204129 CA344806302 |
117 | N>D | No |
ClinGen gnomAD |
|
|
rs1178486862 CA344806308 |
117 | N>S | No |
ClinGen gnomAD |
|
|
rs565143487 CA1387126 |
118 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1572548269 CA344806338 |
118 | S>R | No |
ClinGen Ensembl |
|
|
rs1365763624 CA344806359 |
119 | K>N | No |
ClinGen gnomAD |
|
|
CA1387127 rs764100273 |
121 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA344806446 rs1572548361 |
124 | F>I | No |
ClinGen Ensembl |
|
|
CA344806469 rs1572548412 |
125 | F>I | No |
ClinGen Ensembl |
|
| TCGA novel | 125 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750046943 CA1387131 |
126 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA36919513 rs889339128 |
127 | G>D | No |
ClinGen Ensembl |
|
| TCGA novel | 129 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334288191 CA344808943 |
129 | I>V | No |
ClinGen TOPMed |
|
|
rs1282017958 CA344808954 |
130 | I>S | No |
ClinGen gnomAD |
|
|
rs1442572227 CA344808961 |
131 | N>I | No |
ClinGen gnomAD |
|
|
rs763607331 CA36919515 |
131 | N>K | No |
ClinGen TOPMed |
|
|
rs781366466 CA1387156 |
133 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1482500915 CA344808989 |
135 | E>V | No |
ClinGen gnomAD |
|
|
CA344809000 rs1191028149 |
137 | I>V | No |
ClinGen gnomAD |
|
|
CA1387158 rs770105520 |
138 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1166862383 CA344809016 |
139 | P>L | No |
ClinGen gnomAD |
|
|
rs1448921377 CA344809013 |
139 | P>S | No |
ClinGen gnomAD |
|
|
CA1387159 rs780349584 |
140 | A>G | No |
ClinGen ExAC |
|
|
CA1387160 rs577745586 |
143 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768466924 COSM344960 CA1387161 |
144 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA344809060 rs774083131 |
146 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1387162 rs774083131 |
146 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772666453 CA1387165 |
148 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs772000767 CA1387164 |
148 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236488222 CA344809081 |
150 | T>A | No |
ClinGen gnomAD |
|
|
rs760199956 CA344809084 |
150 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760199956 CA1387166 |
150 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765921686 CA1387167 |
151 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264079023 CA344809088 |
151 | F>S | No |
ClinGen TOPMed |
|
|
rs776312238 CA1387168 |
153 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1304920169 CA344809099 |
153 | E>Q | No |
ClinGen gnomAD |
|
|
CA1387170 rs146013577 |
154 | C>G | No |
ClinGen ESP ExAC |
|
|
rs751886508 CA1387171 |
154 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs757774704 CA1387172 |
155 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs768174092 CA1387173 |
156 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1387174 rs768174092 |
156 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572639179 CA344809125 |
157 | E>* | No |
ClinGen Ensembl |
|
|
rs1348335050 CA344886051 |
160 | S>C | No |
ClinGen TOPMed |
|
|
rs1209799016 CA344886048 |
160 | S>P | No |
ClinGen TOPMed |
|
|
rs753879162 CA1387196 |
161 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA344886053 rs753879162 |
161 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1387197 COSM3418722 rs755186439 |
163 | S>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM209848 CA344886092 rs1473663053 |
166 | V>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1382908249 CA344886099 |
167 | S>F | No |
ClinGen TOPMed |
|
|
CA1387199 rs535231866 |
169 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1455483280 CA344886122 |
171 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA37266680 rs200064577 |
173 | D>E | No |
ClinGen Ensembl |
|
|
CA37266679 rs553554592 |
173 | D>Y | No |
ClinGen 1000Genomes |
|
|
rs1558378495 CA344886142 |
174 | S>F | No |
ClinGen Ensembl |
|
|
CA344886144 rs1391439829 |
175 | L>V | No |
ClinGen gnomAD |
|
|
rs1414488321 CA344886150 |
176 | A>S | No |
ClinGen TOPMed |
|
|
rs1320934669 CA344886161 |
177 | E>D | No |
ClinGen gnomAD |
|
|
rs367564641 CA1387201 |
179 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367564641 CA1387200 |
179 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1387202 rs746933743 |
181 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA37266683 rs375756109 |
185 | N>S | No |
ClinGen gnomAD |
|
|
rs1350222944 CA344886217 |
186 | Q>K | No |
ClinGen gnomAD |
|
|
rs770783438 CA1387203 |
189 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA344886245 rs1170526648 |
190 | I>V | No |
ClinGen TOPMed |
|
|
rs1286455391 CA344886259 |
192 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 192 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1387205 rs745404182 |
193 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA1387206 rs745404182 |
193 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs372834454 CA1387209 |
195 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1572712737 CA344886281 |
196 | N>H | No |
ClinGen Ensembl |
|
|
CA1387210 rs773772139 |
196 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA37266684 rs377208928 |
197 | L>P | No |
ClinGen ESP TOPMed |
|
|
CA1387211 rs761187700 |
198 | S>P | No |
ClinGen ExAC |
|
|
CA344886301 rs766825388 |
199 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1387212 rs766825388 |
199 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs958349038 CA37266685 |
200 | D>N | No |
ClinGen TOPMed |
|
|
COSM1264589 CA1387213 rs753903508 |
202 | S>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs141240814 CA1387215 |
204 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs191838083 CA1387216 |
206 | A>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA37266686 rs878931355 |
207 | V>A | No |
ClinGen gnomAD |
|
|
CA1387217 rs758673123 |
207 | V>I | No |
ClinGen ExAC |
|
|
rs139296657 CA1387218 |
208 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751357136 CA1387219 |
209 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757182331 CA1387220 |
210 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA37266687 rs77602608 |
210 | D>Y | No |
ClinGen Ensembl |
|
|
rs1397423876 CA344886363 |
211 | S>G | No |
ClinGen gnomAD |
|
|
rs1341466610 CA344886374 |
212 | E>G | No |
ClinGen gnomAD |
|
|
rs1244646438 CA344886387 |
214 | S>G | No |
ClinGen gnomAD |
|
|
CA1387222 rs745870658 |
214 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA344886419 rs1274179856 |
218 | E>G | No |
ClinGen gnomAD |
|
|
rs779777949 CA1387225 |
219 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs199560994 CA1387226 |
219 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1387229 rs369704036 |
220 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369704036 CA1387228 |
220 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768437981 CA344886430 |
220 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1387230 rs771374489 |
221 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1392003572 CA344886434 |
221 | E>A | No |
ClinGen gnomAD |
|
|
rs1392003572 CA344886435 |
221 | E>G | No |
ClinGen gnomAD |
|
|
CA344886433 rs771374489 |
221 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1390091754 CA344886440 |
222 | S>G | No |
ClinGen TOPMed |
|
|
CA1387232 rs755598192 |
223 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1387233 COSM414636 rs765284722 |
223 | R>H | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs765284722 CA1387234 |
223 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA1387231 rs755598192 |
223 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372361416 CA1387236 |
227 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756984597 CA1387238 |
229 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1387239 rs376958657 |
232 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 233 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756134497 CA1387241 |
233 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195388968 CA344886517 |
234 | L>V | No |
ClinGen gnomAD |
|
|
rs748813450 CA1387243 |
236 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1387242 rs779655205 |
236 | K>R | No |
ClinGen ExAC |
|
|
rs769346061 CA344886536 |
237 | R>K | No |
ClinGen gnomAD |
|
|
CA37266688 rs769346061 |
237 | R>T | No |
ClinGen gnomAD |
|
|
rs781402869 COSM3689340 CA1387245 |
238 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1387246 rs747874894 |
241 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs891877033 CA37266689 |
242 | K>E | No |
ClinGen TOPMed |
|
|
CA344886576 rs1572713893 |
243 | A>T | No |
ClinGen Ensembl |
|
|
CA344886591 rs1455802198 |
245 | E>G | No |
ClinGen gnomAD |
|
|
rs777108160 CA1387248 |
245 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1387249 rs746298886 |
246 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA344886602 rs1572713999 |
247 | I>L | No |
ClinGen Ensembl |
|
|
rs1250014430 CA344886630 |
251 | L>S | No |
ClinGen TOPMed |
|
|
rs1010225886 CA37266690 |
253 | K>Q | No |
ClinGen TOPMed |
|
|
rs150727119 CA1387251 |
256 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344886678 rs573792172 |
257 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144929190 CA1387254 |
258 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1387255 rs770063633 |
259 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1387256 rs147945661 |
261 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1387257 rs767203661 |
261 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1387258 rs750246745 |
262 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs756050938 CA1387259 |
264 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1460035328 CA344886737 |
266 | Y>C | No |
ClinGen gnomAD |
|
|
rs1330187754 CA344886764 |
270 | V>A | No |
ClinGen gnomAD |
|
|
rs753873638 CA1387261 |
270 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1269733828 CA344886768 |
271 | D>Y | No |
ClinGen gnomAD |
|
|
CA1387262 rs754504568 |
276 | G>S | No |
ClinGen ExAC |
|
|
CA1387263 rs778631756 |
276 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA344886808 rs1307210351 |
277 | V>A | No |
ClinGen TOPMed |
|
|
rs1367374869 CA344887550 |
279 | G>E | No |
ClinGen TOPMed |
|
|
rs1055066798 CA37270784 |
280 | E>Q | No |
ClinGen Ensembl |
|
|
CA344887567 rs1572974098 |
282 | S>G | No |
ClinGen Ensembl |
|
|
rs1252715630 CA344887575 |
283 | P>S | No |
ClinGen gnomAD |
|
|
CA1387292 rs368914061 |
284 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368914061 CA344887579 |
284 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148984854 CA1387293 |
285 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344887588 rs1426015677 |
285 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA344887590 rs1423844997 |
286 | R>* | No |
ClinGen Ensembl |
|
|
rs1166149101 CA344887591 |
286 | R>Q | No |
ClinGen gnomAD |
|
|
rs1364204225 CA344887602 |
288 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1387294 rs769165349 |
288 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310070075 CA344887609 |
289 | V>M | No |
ClinGen gnomAD |
|
|
rs778792223 CA1387295 |
290 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA344887620 rs1409442360 |
291 | R>G | No |
ClinGen gnomAD |
|
|
rs374003961 CA1387296 |
291 | R>I | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 292 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427389649 CA344887641 |
294 | A>P | No |
ClinGen TOPMed |
|
|
rs1381098208 CA344887644 |
294 | A>V | No |
ClinGen gnomAD |
|
|
CA37270785 rs1050537762 |
295 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA344887666 CA1387298 rs773450346 |
298 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs761043603 CA1387301 |
299 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370851168 CA1387302 |
299 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761043603 COSM903656 CA1387300 |
299 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA344887700 rs1572974619 |
303 | I>F | No |
ClinGen Ensembl |
|
|
rs1231486910 CA344887710 |
304 | S>F | No |
ClinGen gnomAD |
|
|
CA37270787 rs1047585955 |
305 | S>N | No |
ClinGen Ensembl |
|
|
rs886188654 CA37270788 |
308 | G>A | No |
ClinGen Ensembl |
|
|
rs1484465576 CA344887763 |
312 | L>P | No |
ClinGen gnomAD |
|
|
CA1387304 rs759476637 |
313 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1387303 rs759476637 |
313 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310088301 CA344887774 |
314 | D>G | No |
ClinGen TOPMed |
|
|
CA1387305 rs556701673 |
314 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1014878313 CA37270790 |
316 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA344887784 rs762499668 |
316 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762499668 CA1387306 |
316 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1387307 rs763556033 |
317 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA37271698 rs922391159 |
318 | P>L | No |
ClinGen TOPMed |
|
|
CA1387329 rs56369827 VAR_040649 |
319 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1321176560 CA344888236 |
319 | P>S | No |
ClinGen gnomAD |
|
|
rs539665935 CA1387331 |
320 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs539665935 CA1387332 |
320 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 321 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867724873 CA37271699 |
323 | S>R | No |
ClinGen Ensembl |
|
|
rs1321887953 CA344888273 |
325 | R>S | No |
ClinGen gnomAD |
|
|
CA344888277 rs1439290270 |
326 | P>L | No |
ClinGen TOPMed |
|
|
rs1008665647 CA37271700 |
327 | L>F | No |
ClinGen Ensembl |
|
|
rs1018986778 CA37271701 |
327 | L>P | No |
ClinGen Ensembl |
|
|
rs1269380289 CA344888284 |
328 | W>R | No |
ClinGen gnomAD |
|
|
CA1387339 rs367794519 |
331 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1248533350 CA344888307 |
331 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 332 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478446850 CA344888319 |
332 | S>R | No |
ClinGen gnomAD |
|
|
CA344888322 rs1198996790 |
333 | P>S | No |
ClinGen gnomAD |
|
|
rs1031211345 CA37271702 |
335 | E>K | No |
ClinGen gnomAD |
|
|
rs1031211345 CA344888333 |
335 | E>Q | No |
ClinGen gnomAD |
|
|
rs1371867012 COSM1689816 CA344888339 |
336 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA37271704 rs376318262 |
339 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1387342 rs749194764 |
342 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1324878832 CA344888401 |
345 | V>A | No |
ClinGen gnomAD |
|
|
rs773812205 CA1387344 |
347 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA344888422 rs1337830361 |
348 | K>T | No |
ClinGen TOPMed |
|
|
rs566838689 CA1387365 |
349 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1005593756 CA37277845 |
350 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1435904448 CA344888703 |
351 | L>F | No |
ClinGen gnomAD |
|
|
rs77163540 CA37277846 |
352 | V>L | No |
ClinGen Ensembl |
|
|
CA1387366 rs765974995 |
353 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1387368 rs534298090 |
355 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs534298090 CA1387367 |
355 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs900726146 CA37277848 |
357 | T>K | No |
ClinGen TOPMed |
|
| TCGA novel | 358 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752106541 CA1387370 |
360 | T>I | No |
ClinGen ExAC TOPMed |
|
|
CA1387371 rs762470213 |
361 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA344888774 rs1429939292 |
362 | I>V | No |
ClinGen gnomAD |
|
|
rs1166996263 CA344888782 |
363 | L>S | No |
ClinGen gnomAD |
|
|
CA344888809 rs1235721768 |
365 | G>D | No |
ClinGen gnomAD |
|
|
CA344888812 rs1283634591 |
366 | L>I | No |
ClinGen gnomAD |
|
|
rs760653129 CA1387395 |
369 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1387396 rs766524414 |
372 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs755203550 CA1387398 |
375 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1387400 rs752516948 |
377 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs148124485 CA1387402 |
380 | I>L | No |
ClinGen ESP ExAC |
|
|
CA344888913 rs1558591191 |
380 | I>N | No |
ClinGen Ensembl |
|
|
CA1387403 rs375560038 |
382 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344888924 rs375560038 |
382 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1387404 rs770341753 |
382 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA37277995 rs372891671 |
384 | V>L | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 385 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1387405 rs780811370 |
385 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs745462541 CA1387406 |
386 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1469368781 CA344888960 |
387 | M>I | No |
ClinGen TOPMed |
|
|
rs979512618 CA37277996 |
388 | V>A | No |
ClinGen Ensembl |
|
|
CA344888969 rs1282548869 |
389 | C>Y | No |
ClinGen gnomAD |
|
|
rs1265696912 CA344888983 |
391 | H>P | No |
ClinGen TOPMed |
|
|
CA1387407 rs769576259 |
394 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769576259 CA344889003 |
394 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769576259 CA1387408 |
394 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762294650 CA1387409 |
395 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 397 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344889030 rs1284210994 |
398 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 401 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344616472 CA344889058 |
402 | L>F | No |
ClinGen gnomAD |
|
|
CA344889069 rs1289987020 |
404 | L>V | No |
ClinGen gnomAD |
|
|
rs773564191 CA1387411 |
405 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA344889086 rs1308748103 |
406 | H>Q | No |
ClinGen TOPMed |
|
|
CA1387413 rs116671995 |
407 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1465104582 CA344889124 |
410 | G>D | No |
ClinGen TOPMed |
|
|
rs759586554 CA1387432 |
411 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1387433 rs765340292 |
411 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775684340 CA1387434 |
413 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA344889156 rs1422931963 |
415 | Y>C | No |
ClinGen gnomAD |
|
|
CA344889168 rs1354871455 |
417 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 418 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA37278889 rs761551460 |
420 | L>I | No |
ClinGen Ensembl |
|
|
CA344889210 rs1432848640 |
423 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs56183862 VAR_040650 CA1387435 |
424 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs763737046 CA1387436 |
425 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1387437 rs751376105 |
427 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA344889239 rs1453308072 |
427 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs376486080 CA1387438 |
428 | F>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1387441 rs547173893 |
434 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 436 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779779960 CA1387442 |
436 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308433350 CA344889309 |
437 | T>A | No |
ClinGen gnomAD |
|
|
CA1387444 rs139398884 |
438 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA37278890 rs139398884 |
438 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1387445 rs200446126 |
439 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344889321 rs200446126 |
439 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200446126 CA344889322 |
439 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1387448 rs777090616 |
441 | V>D | No |
ClinGen ExAC |
|
|
CA1387446 rs370571049 |
441 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1387447 rs370571049 |
441 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1387449 rs746441092 |
442 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1273584592 CA344889342 |
443 | L>V | No |
ClinGen TOPMed |
|
|
rs540244780 CA1387450 |
444 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540244780 CA1387451 |
444 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763020161 CA1387452 |
446 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA344889378 rs1167984421 |
449 | S>G | No |
ClinGen gnomAD |
|
|
rs768955544 CA1387453 |
450 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1387455 rs761647610 |
452 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773968828 CA1387454 |
452 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1387456 rs767464296 |
453 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA344889415 rs1432354729 |
454 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 455 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344889427 rs1314179932 |
456 | F>I | No |
ClinGen TOPMed |
|
|
rs1314179932 CA344889428 |
456 | F>L | No |
ClinGen TOPMed |
|
|
rs1369539999 CA344889433 |
456 | F>L | No |
ClinGen TOPMed |
|
|
CA37278892 rs970493687 |
461 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA37278893 rs1015665554 |
464 | G>R | No |
ClinGen TOPMed |
|
|
CA1387458 rs760754964 |
466 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1387459 rs547388721 |
469 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1387460 rs753416076 |
471 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs145337135 CA1387461 |
473 | K>N | No |
ClinGen ESP ExAC |
|
|
CA344889549 rs1204841173 |
474 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778602363 CA1387462 |
474 | S>N | No |
ClinGen ExAC TOPMed |
|
|
rs183778510 CA1387464 |
475 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs183778510 CA1387463 |
475 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344889561 rs1217954198 |
476 | L>V | No |
ClinGen gnomAD |
|
|
rs781594497 CA1387465 |
477 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA344889570 rs781594497 |
477 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA344889576 rs1437923640 |
478 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA344889573 rs1185034112 |
478 | P>T | No |
ClinGen gnomAD |
|
|
rs1482149027 CA344889578 |
479 | S>G | No |
ClinGen TOPMed |
|
|
CA344889613 rs1431120389 |
483 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA37278895 rs4307536 |
483 | D>V | No |
ClinGen Ensembl |
|
|
rs537045561 CA344889625 |
485 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1387466 rs537045561 |
485 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1175603564 CA344889633 |
486 | Q>R | No |
ClinGen gnomAD |
|
|
rs770288249 CA1387467 |
487 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1387468 rs144042840 |
488 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA344889644 rs1196645790 |
488 | D>H | No |
ClinGen TOPMed |
|
|
CA1387470 rs186781395 |
489 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749410128 CA1387469 |
489 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140824568 CA1387472 |
490 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1387474 rs773158201 |
491 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA1387475 rs144593105 |
491 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 492 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA37278896 rs764780652 |
493 | S>G | No |
ClinGen gnomAD |
|
|
CA1387476 rs139942392 |
494 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1387477 rs139942392 |
494 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1558610404 CA344889690 |
495 | P>L | No |
ClinGen Ensembl |
|
|
CA1387478 rs367579615 |
496 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA37278897 rs367579615 |
496 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs529542893 CA1387479 |
498 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA37278898 rs150362956 |
500 | S>A | No |
ClinGen ESP TOPMed |
|
|
CA1387481 rs758058253 |
508 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA37278899 rs762841850 |
509 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA344889790 rs1558610659 |
510 | T>S | No |
ClinGen Ensembl |
|
|
rs1406579889 CA344889792 |
510 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 511 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399037477 CA344889821 |
514 | T>R | No |
ClinGen TOPMed |
|
|
CA344889830 rs1365737167 |
516 | C>S | No |
ClinGen gnomAD |
|
|
CA1387483 rs143588119 |
517 | N>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA37278900 rs143588119 |
517 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA344889844 rs1302870708 |
518 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1329744937 CA344889854 |
519 | Y>D | No |
ClinGen gnomAD |
|
|
rs756566751 CA1387484 |
520 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 520 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350034189 CA344889868 |
521 | Q>P | No |
ClinGen gnomAD |
|
|
CA1387487 rs572714784 |
524 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1387490 rs772430840 |
526 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs748347626 CA1387489 |
526 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA37278901 rs916213046 |
527 | G>R | No |
ClinGen Ensembl |
|
|
rs143902583 CA37278902 |
529 | L>S | No |
ClinGen 1000Genomes |
|
|
CA344889925 rs1439392482 |
530 | N>D | No |
ClinGen gnomAD |
|
|
CA344889932 rs1182421163 |
531 | E>K | No |
ClinGen gnomAD |
|
|
rs1232299956 CA344889947 |
532 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA344889951 rs1468535421 |
533 | P>H | No |
ClinGen gnomAD |
|
|
CA344889953 rs1468535421 |
533 | P>L | No |
ClinGen gnomAD |
|
|
rs558135115 CA1387491 |
534 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1387492 rs766303599 |
534 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344889966 rs1389000164 |
535 | M>I | No |
ClinGen gnomAD |
|
|
CA344889961 rs1161327500 |
535 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1387493 rs770886352 |
540 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1387494 rs144668404 COSM289765 |
541 | G>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA344890004 rs1335622927 |
541 | G>S | No |
ClinGen gnomAD |
|
|
CA344890008 rs144668404 |
541 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344890010 rs1317191373 |
542 | V>L | No |
ClinGen gnomAD |
|
|
rs35281247 VAR_040651 RCV000969149 CA1387495 |
546 | A>P | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 548 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1387496 rs200113819 |
554 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| VAR_040652 | 554 | L>I | a lung neuroendocrine carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs368605950 CA1387497 |
554 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1558611569 CA344890113 |
557 | D>G | No |
ClinGen Ensembl |
|
|
CA37278904 rs897342362 |
558 | S>G | No |
ClinGen Ensembl |
|
|
rs995515158 CA37278905 |
559 | D>G | No |
ClinGen Ensembl |
|
|
rs1327808333 CA344890134 |
560 | S>N | No |
ClinGen TOPMed |
|
|
VAR_051635 CA1387499 RCV000900966 rs17020314 |
561 | P>R | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1387498 rs762551179 |
561 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435955942 CA344890153 |
563 | T>S | No |
ClinGen gnomAD |
|
|
CA344890170 rs1243188420 |
566 | R>G | No |
ClinGen gnomAD |
|
|
rs756439990 CA1387501 |
566 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344890189 rs754360220 |
568 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755457477 CA1387504 |
571 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs371947868 CA344890238 |
575 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_040653 CA1387506 rs56060894 |
575 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs533269129 CA1387509 |
576 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs533269129 CA1387508 |
576 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA37278907 rs923738046 |
577 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1406898617 CA344890252 |
578 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1387510 rs747873585 |
580 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1387511 rs747873585 |
580 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1193283221 CA344890267 |
580 | A>V | No |
ClinGen TOPMed |
|
|
CA344890280 rs1254677778 |
582 | S>T | No |
ClinGen TOPMed |
|
|
CA344890296 rs1573539278 |
585 | R>G | No |
ClinGen Ensembl |
|
|
rs1206694765 CA344890304 |
586 | T>A | No |
ClinGen TOPMed |
|
|
rs1446365029 CA344890308 |
586 | T>I | No |
ClinGen TOPMed |
|
|
rs769649294 CA1387513 |
589 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769649294 CA1387514 |
589 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763634024 CA1387516 |
596 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA344890379 rs1273848728 |
597 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 599 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 600 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199765911 CA1387519 |
601 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 603 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199708203 CA1387522 |
603 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755474543 CA1387521 |
603 | I>R | No |
ClinGen ExAC gnomAD |
|
|
CA1387520 rs754160451 |
603 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1387523 rs753294293 |
604 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344890430 rs753294293 |
604 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1387524 rs758543785 |
605 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA344890441 rs1447171109 |
606 | K>E | No |
ClinGen gnomAD |
|
|
rs1402488018 CA344890451 |
607 | D>G | No |
ClinGen TOPMed |
|
|
CA344890457 rs1372841583 |
608 | S>G | No |
ClinGen gnomAD |
|
|
CA1387528 rs780999446 |
609 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA344890464 rs182116576 |
609 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs182116576 CA1387527 |
609 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344890470 rs1301112898 |
610 | S>G | No |
ClinGen gnomAD |
|
|
CA1387530 rs769681037 |
611 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA37278908 rs1013094895 |
612 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1387532 rs749291747 |
614 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA37278909 rs1021841790 |
615 | L>I | No |
ClinGen TOPMed |
|
|
rs761391411 CA1387535 |
621 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs187036422 CA1387534 |
621 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771657969 CA1387536 |
622 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA344890555 rs1186463024 |
623 | S>G | No |
ClinGen TOPMed |
|
|
rs772963271 CA344890590 |
628 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772963271 CA1387537 |
628 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344890622 rs759784155 |
632 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1490738705 CA344890636 |
634 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1490738705 CA344890635 |
634 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1201966198 CA344890639 |
635 | L>I | No |
ClinGen gnomAD |
|
|
rs753239280 CA1387540 |
638 | G>E | No |
ClinGen ExAC |
|
|
rs200457587 CA1387541 |
639 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344890670 rs1440175081 |
640 | S>G | No |
ClinGen TOPMed |
|
|
CA344890674 rs1174621793 |
640 | S>N | No |
ClinGen gnomAD |
|
|
CA1387544 rs764201065 |
641 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764201065 CA37278911 |
641 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344890697 rs1158208292 |
644 | S>N | No |
ClinGen gnomAD |
|
|
rs751720775 CA1387545 |
646 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs757452045 CA1387546 |
647 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757452045 CA344890717 |
647 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201311957 CA1387547 |
647 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs561217079 CA37278914 |
652 | V>L | No |
ClinGen Ensembl |
|
|
CA344890764 rs1433523828 |
653 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 653 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 657 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755859762 CA1387549 |
657 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA1387550 rs779883641 |
658 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA344890818 rs1312354790 |
661 | S>N | No |
ClinGen TOPMed |
|
|
rs868812201 CA37278915 |
661 | S>R | No |
ClinGen Ensembl |
|
| VAR_040654 | 663 | G>A | an ovarian mucinous carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs1435510864 CA344890832 |
663 | G>D | No |
ClinGen TOPMed |
|
|
CA344890830 rs1237619777 |
663 | G>R | No |
ClinGen gnomAD |
|
|
rs1167024559 CA344890846 |
665 | D>G | No |
ClinGen TOPMed |
|
|
CA344890863 rs1409126750 |
668 | V>M | No |
ClinGen TOPMed |
|
|
rs1283274674 CA344890870 |
669 | P>S | No |
ClinGen gnomAD |
|
|
rs1361092065 CA344890885 |
671 | I>T | No |
ClinGen gnomAD |
|
|
rs143609307 CA1387553 |
674 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1387552 rs143609307 |
674 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344890915 rs1275723734 |
675 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1169528279 CA344890912 |
675 | D>Y | No |
ClinGen TOPMed |
|
|
rs76987106 CA1387554 |
676 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1558613568 CA344890927 |
677 | A>G | No |
ClinGen Ensembl |
|
|
rs1253368631 CA344890940 |
679 | D>V | No |
ClinGen gnomAD |
|
|
CA1387555 rs1316789902 |
681 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1387557 rs771648518 |
683 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs772731949 CA1387558 |
684 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs760431303 CA1387559 |
684 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1387560 rs770222266 |
685 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA344890994 rs1249123785 |
687 | G>A | No |
ClinGen TOPMed |
|
|
CA344890990 rs1364712569 |
687 | G>R | No |
ClinGen gnomAD |
|
|
CA1387562 rs763512133 |
688 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1373890310 CA344891001 |
688 | R>S | No |
ClinGen gnomAD |
|
|
rs201317387 CA1387564 |
689 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201317387 CA1387563 |
689 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA37278918 rs889893171 |
690 | D>V | No |
ClinGen Ensembl |
|
|
CA344891016 rs1274182698 |
691 | L>H | No |
ClinGen TOPMed |
|
|
CA344891018 rs1274182698 |
691 | L>R | No |
ClinGen TOPMed |
|
|
CA344891021 rs1558613923 |
692 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 692 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761768731 CA1387565 |
692 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1387566 rs767703830 |
695 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 696 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344891052 rs1293280717 |
697 | G>C | No |
ClinGen TOPMed |
|
|
CA1387568 rs756373688 |
700 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA1387569 rs779760939 |
700 | E>V | No |
ClinGen ExAC |
|
|
rs910646645 CA37278919 |
705 | A>V | No |
ClinGen TOPMed |
|
|
rs1198607585 CA344891130 |
709 | G>R | No |
ClinGen gnomAD |
|
|
CA344891140 rs1446575403 |
710 | P>L | No |
ClinGen gnomAD |
|
|
CA37278920 rs1020005073 |
710 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA344891136 rs1020005073 |
710 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs965417293 CA37278921 |
711 | T>A | No |
ClinGen Ensembl |
|
|
CA1387571 rs754865122 |
711 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs965417293 CA37278922 |
711 | T>S | No |
ClinGen Ensembl |
|
|
rs1172200323 CA344891147 |
712 | K>T | No |
ClinGen gnomAD |
|
|
rs1354926914 CA344891157 |
713 | F>C | No |
ClinGen gnomAD |
|
|
rs778803830 CA1387572 |
714 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757830537 CA37278923 |
718 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757830537 CA1387574 |
718 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407637305 CA344891192 |
718 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1030964021 CA37278925 |
719 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA37278924 rs999406621 |
719 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1215986001 CA344891206 |
720 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA344891211 rs1298139155 |
721 | I>T | No |
ClinGen gnomAD |
|
|
CA1387575 rs777347529 |
723 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1387576 rs368836189 |
725 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770737175 CA1387577 |
726 | L>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 726 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775947585 CA1387579 |
728 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1573542513 CA344891287 |
732 | L>F | No |
ClinGen Ensembl |
|
|
rs1387307387 CA344891297 |
734 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1387581 rs769183528 |
735 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA1387582 rs774716131 |
737 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA344891314 rs1573542573 |
737 | S>R | No |
ClinGen Ensembl |
|
|
CA37278926 rs957851459 |
738 | T>A | No |
ClinGen gnomAD |
|
|
CA344891326 rs1480755350 |
739 | E>K | No |
ClinGen TOPMed |
|
|
CA344891338 rs1419937115 |
740 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA37278927 rs566102618 |
743 | A>E | No |
ClinGen Ensembl |
|
|
CA1387583 rs548020129 |
744 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344891367 rs1273077600 |
744 | H>Q | No |
ClinGen TOPMed |
|
|
rs548020129 CA1387584 |
744 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs566092126 CA37278928 |
745 | E>K | No |
ClinGen 1000Genomes |
|
|
CA344891382 rs1558615002 |
746 | E>D | No |
ClinGen Ensembl |
|
|
rs1168439549 CA344891377 |
746 | E>Q | No |
ClinGen gnomAD |
|
|
CA344891386 rs1431265433 |
747 | K>E | No |
ClinGen gnomAD |
|
|
CA1387585 rs200816287 |
747 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1387586 rs185451843 |
748 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766615286 CA1387587 |
749 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754112281 CA1387588 |
750 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1289142840 CA344891431 |
754 | D>Y | No |
ClinGen gnomAD |
|
|
rs1304999083 CA344891461 |
758 | P>R | No |
ClinGen TOPMed |
|
|
CA1387590 rs765070398 |
761 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1387592 rs570315239 |
762 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1387591 rs570315239 |
762 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1326208305 CA344891497 |
764 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 765 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344891521 rs1277963226 |
767 | H>R | No |
ClinGen gnomAD |
|
|
rs145921318 CA1387593 |
768 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1310567656 CA344891526 |
768 | Y>N | No |
ClinGen gnomAD |
|
|
rs981895292 CA37278930 |
770 | Q>* | No |
ClinGen Ensembl |
|
|
rs746549262 CA1387594 |
772 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA37278931 rs906168658 |
774 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA344891572 rs1270809331 |
774 | R>S | No |
ClinGen gnomAD |
|
|
rs940371204 CA37278933 |
775 | M>I | No |
ClinGen Ensembl |
|
|
rs927585842 CA37278932 |
775 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 776 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1387596 rs749435495 |
777 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs745584620 CA1387597 |
777 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs769130007 CA1387598 COSM678682 |
778 | V>A | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA344891593 rs1422424143 |
778 | V>I | No |
ClinGen gnomAD |
|
|
CA344891595 rs1422424143 |
778 | V>L | No |
ClinGen gnomAD |
|
|
CA344891600 rs1401999731 |
779 | A>S | No |
ClinGen gnomAD |
|
|
CA1387600 rs748538758 |
780 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1387599 rs774793269 |
780 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs772669621 CA37278935 |
781 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA1387601 rs772669621 |
781 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs760152468 CA1387602 |
783 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1387603 rs760725377 |
784 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA37278936 rs1010695013 |
785 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 787 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776817908 CA1387606 |
788 | D>H | No |
ClinGen ExAC |
|
|
rs759764646 CA37278937 |
789 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759764646 CA1387607 |
789 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344891662 rs1225469433 |
789 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA344891668 rs1457647901 |
790 | S>P | No |
ClinGen gnomAD |
|
|
CA344891676 rs1353198220 |
791 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 793 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258981309 CA344891696 |
794 | S>N | No |
ClinGen TOPMed |
|
|
CA1387608 rs764870180 |
795 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372285935 CA1387610 |
798 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372285935 CA1387609 |
798 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764069777 CA1387611 |
799 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1198069082 CA344891740 |
800 | Q>H | No |
ClinGen gnomAD |
|
|
CA344891744 rs1244980812 |
801 | G>E | No |
ClinGen gnomAD |
|
|
CA344891760 rs1309392527 |
804 | V>L | No |
ClinGen TOPMed |
|
|
rs756824538 CA344891777 |
806 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344891792 rs1177225810 |
809 | V>I | No |
ClinGen gnomAD |
|
|
CA344891791 rs1177225810 |
809 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780906912 CA1387614 |
810 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1417442639 CA344891806 |
811 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs755834057 CA1387617 |
819 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1387618 rs779416023 |
820 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1387619 rs748570547 COSM414635 |
820 | R>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs772375000 CA1387620 |
821 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA344891886 rs1310025103 |
823 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs138148824 CA1387621 |
824 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138148824 CA1387622 |
824 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1387624 rs776693648 |
826 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs573814230 CA1387625 |
826 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1356785709 CA344891908 |
827 | G>S | No |
ClinGen gnomAD |
|
|
rs1208950899 CA344891922 |
829 | N>D | No |
ClinGen gnomAD |
|
|
rs770076392 CA1387626 |
831 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA1387627 rs775621948 |
832 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA37278942 rs901169034 |
832 | I>V | No |
ClinGen TOPMed |
|
|
rs762777581 CA1387628 |
833 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1338311323 CA344891970 |
836 | D>A | No |
ClinGen gnomAD |
|
|
rs375818673 CA1387630 |
836 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 836 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344891969 rs1437340682 |
836 | D>Y | No |
ClinGen gnomAD |
|
|
rs761856856 CA1387631 |
839 | K>E | No |
ClinGen ExAC |
|
|
rs1186494018 CA344891992 |
839 | K>N | No |
ClinGen TOPMed |
|
|
rs767069949 CA1387633 |
842 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA344892012 rs1389063352 |
842 | E>V | No |
ClinGen gnomAD |
|
|
CA1387634 rs749986537 |
843 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755780959 CA1387635 |
846 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344892037 rs1399629121 |
846 | F>L | No |
ClinGen gnomAD |
|
|
CA1387636 rs779737542 |
847 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1338791314 CA344892049 |
848 | D>G | No |
ClinGen gnomAD |
|
|
rs1347441807 CA344892067 |
851 | D>H | No |
ClinGen TOPMed |
|
|
CA1387637 rs34080597 VAR_040655 |
853 | L>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs758790395 CA1387638 |
855 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1282179939 CA344892097 |
855 | K>R | No |
ClinGen gnomAD |
|
|
CA1387639 rs185611165 |
856 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1387641 rs771457186 |
858 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs144436274 CA1387642 |
859 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745924670 CA1387643 |
865 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1573545524 CA344892193 |
869 | K>R | No |
ClinGen Ensembl |
|
|
CA1387644 rs772676951 |
870 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545170643 CA1387645 |
872 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA344892245 rs1172010054 |
877 | E>G | No |
ClinGen gnomAD |
|
|
rs566966061 CA1387650 |
878 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1010845448 CA37278945 |
880 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 880 | K>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1387652 COSM1338708 rs767587139 |
880 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1387653 rs750438195 |
883 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1332504906 CA344892294 |
884 | Q>R | No |
ClinGen gnomAD |
|
|
rs369229582 CA1387654 |
886 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 886 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344892338 rs1400310464 |
890 | D>G | No |
ClinGen gnomAD |
|
|
rs765875749 CA1387656 |
891 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs939322979 CA37278946 |
892 | K>E | No |
ClinGen TOPMed |
|
| rs755980697 | 892 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1387658 rs754587710 |
896 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 896 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753468979 CA1387657 |
896 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1488417294 CA344892384 |
897 | S>F | No |
ClinGen gnomAD |
|
|
rs1263497249 CA344892379 |
897 | S>P | No |
ClinGen gnomAD |
|
|
CA37278947 rs1054787801 |
898 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA37278948 rs199577296 |
898 | R>K | No |
ClinGen 1000Genomes TOPMed |
|
|
CA344892387 rs199577296 |
898 | R>T | No |
ClinGen 1000Genomes TOPMed |
|
|
CA1387660 rs751940321 |
899 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA344892400 rs1378258913 |
900 | Y>C | No |
ClinGen gnomAD |
|
|
CA1387662 rs149870413 |
901 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145246683 CA1387661 |
901 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756205721 CA1387664 |
903 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558172252 CA1387666 |
904 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs768792578 CA1387667 |
906 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330000796 CA344892449 |
908 | R>G | No |
ClinGen gnomAD |
|
|
CA1387668 rs774240362 |
908 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353917630 CA344892466 |
910 | A>S | No |
ClinGen gnomAD |
|
|
rs1353917630 CA344892464 |
910 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 912 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227982452 CA344892497 |
914 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 915 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268585658 CA344892516 |
917 | L>P | No |
ClinGen gnomAD |
|
|
CA344892524 rs1328225394 |
918 | D>E | No |
ClinGen Ensembl |
|
|
rs765844338 CA1387673 |
919 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1387674 rs776032708 |
920 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA344892531 rs1196787408 |
920 | L>V | No |
ClinGen gnomAD |
|
|
rs759176388 CA1387675 |
922 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs764846282 CA1387676 |
924 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs180891474 CA344892570 |
926 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs180891474 CA1387677 |
926 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757612838 CA1387678 |
928 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757612838 CA1387679 |
928 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750884868 CA344892584 COSM463915 |
928 | R>H | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs750884868 CA1387680 |
928 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs756584530 CA1387681 |
935 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 936 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377053160 CA344892647 |
937 | L>W | No |
ClinGen gnomAD |
|
|
CA1387683 rs749351424 |
940 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1387706 rs746756314 |
943 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA1387707 rs770797967 |
944 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA344892705 rs770797967 |
944 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1424178002 CA344892721 |
946 | T>M | No |
ClinGen gnomAD |
|
|
rs1167867731 CA344892774 |
953 | E>G | No |
ClinGen gnomAD |
|
|
CA37278965 rs377432736 |
955 | E>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA344892788 rs377432736 |
955 | E>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA344892795 rs1360429335 |
956 | D>G | No |
ClinGen gnomAD |
|
|
rs745874632 CA344892809 |
958 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs745874632 CA1387709 |
958 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs745874632 CA344892808 |
958 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1387710 rs370222314 |
960 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1202849337 CA344892832 |
961 | D>V | No |
ClinGen TOPMed |
|
|
rs1023554844 CA37278967 COSM209851 |
962 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1387713 rs768320759 |
963 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA1387712 rs762553182 |
963 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344892846 rs1314074886 |
964 | E>Q | No |
ClinGen gnomAD |
|
|
rs376274594 CA37278968 |
966 | M>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1387714 rs774103391 |
968 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA37278970 rs766243475 |
970 | P>L | No |
ClinGen Ensembl |
|
|
rs760084367 CA1387737 |
976 | T>I | No |
ClinGen ExAC |
|
|
CA344887849 rs1197404504 |
977 | E>G | No |
ClinGen TOPMed |
|
|
rs1002915831 CA37280972 |
981 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1031874479 CA37280973 |
991 | L>V | No |
ClinGen Ensembl |
|
|
CA344887964 rs1237620559 |
993 | E>G | No |
ClinGen gnomAD |
|
|
rs1330391509 CA344887981 |
996 | T>A | No |
ClinGen gnomAD |
|
|
CA344888034 rs1295672459 |
1002 | E>G | No |
ClinGen TOPMed |
|
|
rs1237002804 COSM1338710 CA344888039 |
1003 | C>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| VAR_040656 | 1003 | C>Y | a lung adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs1253966317 CA344888056 |
1005 | P>S | No |
ClinGen gnomAD |
|
|
CA1387760 rs764023565 |
1008 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1239595354 CA344888082 |
1009 | N>S | No |
ClinGen gnomAD |
|
|
rs143714274 CA1387762 |
1011 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867339115 CA37281074 |
1012 | T>N | No |
ClinGen Ensembl |
|
|
CA1387765 rs371668209 |
1013 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1387764 rs750692103 |
1013 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399587120 CA344888111 |
1014 | L>S | No |
ClinGen gnomAD |
|
|
CA1387768 rs754953349 |
1016 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1387767 rs753704824 |
1016 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139038185 CA1387766 |
1016 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1387769 rs778233900 |
1017 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219124711 CA344888136 |
1018 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs747667208 CA1387770 |
1018 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344888165 rs1048776820 COSM1338711 |
1022 | E>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| VAR_040657 | 1022 | E>K | a breast infiltrating ductal carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA37281075 rs1048776820 |
1022 | E>V | No |
ClinGen TOPMed |
|
|
rs886216273 CA37281076 |
1024 | A>V | No |
ClinGen TOPMed |
|
|
rs777557634 CA1387772 COSM1582222 |
1025 | R>C | Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs746728308 CA344888183 |
1025 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746728308 CA1387773 |
1025 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463699113 CA344888189 |
1026 | S>L | No |
ClinGen gnomAD |
|
|
rs780581430 CA1387775 |
1026 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA344888196 rs1573691546 |
1028 | I>L | No |
ClinGen Ensembl |
|
| TCGA novel | 1028 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367780807 CA1387776 |
1029 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344888442 rs1558673288 |
1031 | L>P | No |
ClinGen Ensembl |
|
|
CA37282072 rs555050807 |
1035 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1205632825 CA344888477 |
1036 | P>H | No |
ClinGen TOPMed |
|
|
rs780526542 CA1387794 |
1039 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1289525209 CA344888494 |
1039 | R>Q | No |
ClinGen TOPMed |
|
|
rs1382760533 CA344888499 |
1040 | L>I | No |
ClinGen gnomAD |
|
|
CA344888516 rs1243421199 |
1043 | G>R | No |
ClinGen TOPMed |
|
|
CA344888545 rs1323678821 |
1048 | E>K | No |
ClinGen gnomAD |
|
|
rs768949933 CA1387796 |
1050 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1316165972 CA344888562 |
1050 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1231637923 CA344888571 |
1051 | K>R | No |
ClinGen gnomAD |
|
|
CA344888584 rs1314402270 |
1053 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1053 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353961020 CA344888592 |
1054 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201703424 CA1387797 |
1054 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1387799 rs748667933 |
1055 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA37282074 rs1008229945 |
1057 | T>A | No |
ClinGen Ensembl |
|
|
CA344888610 rs772070565 |
1057 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772070565 CA1387800 |
1057 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344888617 rs1468038637 |
1058 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1059 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1387802 rs760833758 |
1060 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA344888634 rs1219814203 |
1061 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA344888636 rs1219814203 |
1061 | W>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1062 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558674011 CA344888666 |
1065 | M>I | No |
ClinGen Ensembl |
|
|
rs1382460822 CA344888660 |
1065 | M>L | No |
ClinGen gnomAD |
|
|
CA344888681 rs1486463533 |
1067 | R>C | No |
ClinGen gnomAD |
No associated diseases with Q96S38
5 regional properties for Q96S38
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CRIB domain | 123 - 179 | IPR000095 |
| domain | Protein kinase domain | 360 - 639 | IPR000719 |
| domain | Pleckstrin homology domain | 3 - 120 | IPR001849 |
| active_site | Serine/threonine-protein kinase, active site | 503 - 515 | IPR008271 |
| domain | p21 activated kinase binding domain | 121 - 165 | IPR033923 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| phosphatidylinositol binding | Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| 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. |
24 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P18652 | RPS6KA | Ribosomal protein S6 kinase 2 alpha | Gallus gallus (Chicken) | SS |
| Q5F3L1 | RPS6KA5 | Ribosomal protein S6 kinase alpha-5 | Gallus gallus (Chicken) | SS |
| Q9UK32 | RPS6KA6 | Ribosomal protein S6 kinase alpha-6 | Homo sapiens (Human) | SS |
| O75676 | RPS6KA4 | Ribosomal protein S6 kinase alpha-4 | Homo sapiens (Human) | SS |
| P51812 | RPS6KA3 | Ribosomal protein S6 kinase alpha-3 | Homo sapiens (Human) | EV |
| Q15349 | RPS6KA2 | Ribosomal protein S6 kinase alpha-2 | Homo sapiens (Human) | SS |
| Q15418 | RPS6KA1 | Ribosomal protein S6 kinase alpha-1 | Homo sapiens (Human) | EV |
| O75582 | RPS6KA5 | Ribosomal protein S6 kinase alpha-5 | Homo sapiens (Human) | SS |
| Q9Y5W7 | SNX14 | Sorting nexin-14 | Homo sapiens (Human) | PR |
| Q9Y5W8 | SNX13 | Sorting nexin-13 | Homo sapiens (Human) | PR |
| Q96BR1 | SGK3 | Serine/threonine-protein kinase Sgk3 | Homo sapiens (Human) | SS |
| Q9WUT3 | Rps6ka2 | Ribosomal protein S6 kinase alpha-2 | Mus musculus (Mouse) | SS |
| Q9Z2B9 | Rps6ka4 | Ribosomal protein S6 kinase alpha-4 | Mus musculus (Mouse) | SS |
| P18654 | Rps6ka3 | Ribosomal protein S6 kinase alpha-3 | Mus musculus (Mouse) | SS |
| Q8C050 | Rps6ka5 | Ribosomal protein S6 kinase alpha-5 | Mus musculus (Mouse) | PR |
| P18653 | Rps6ka1 | Ribosomal protein S6 kinase alpha-1 | Mus musculus (Mouse) | SS |
| Q6PHS6 | Snx13 | Sorting nexin-13 | Mus musculus (Mouse) | PR |
| Q3ZT31 | Snx25 | Sorting nexin-25 | Mus musculus (Mouse) | PR |
| Q9ERE3 | Sgk3 | Serine/threonine-protein kinase Sgk3 | Mus musculus (Mouse) | PR |
| Q8BHY8 | Snx14 | Sorting nexin-14 | Mus musculus (Mouse) | PR |
| Q8BLK9 | Rps6kc1 | Ribosomal protein S6 kinase delta-1 | Mus musculus (Mouse) | PR |
| Q63531 | Rps6ka1 | Ribosomal protein S6 kinase alpha-1 | Rattus norvegicus (Rat) | SS |
| Q18846 | rskn-2 | Putative ribosomal protein S6 kinase alpha-2 | Caenorhabditis elegans | PR |
| Q21734 | rskn-1 | Putative ribosomal protein S6 kinase alpha-1 | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTSYRERSAD | LARFYTVTEP | QRHPRGYTVY | KVTARVVSRR | NPEDVQEIIV | WKRYSDFKKL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HKELWQIHKN | LFRHSELFPP | FAKGIVFGRF | DETVIEERRQ | CAEDLLQFSA | NIPALYNSKQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LEDFFKGGII | NDSSELIGPA | EAHSDSLIDT | FPECSTEGFS | SDSDLVSLTV | DVDSLAELDD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GMASNQNSPI | RTFGLNLSSD | SSALGAVASD | SEQSKTEEER | ESRSLFPGSL | KPKLGKRDYL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EKAGELIKLA | LKKEEEDDYE | AASDFYRKGV | DLLLEGVQGE | SSPTRREAVK | RRTAEYLMRA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ESISSLYGKP | QLDDVSQPPG | SLSSRPLWNL | RSPAEELKAF | RVLGVIDKVL | LVMDTRTEQT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FILKGLRKSS | EYSRNRKTII | PRCVPNMVCL | HKYIISEESV | FLVLQHAEGG | KLWSYISKFL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NRSPEESFDI | KEVKKPTLAK | VHLQQPTSSP | QDSSSFESRG | SDGGSMLKAL | PLKSSLTPSS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QDDSNQEDDG | QDSSPKWPDS | GSSSEEECTT | SYLTLCNEYG | QEKIEPGSLN | EEPFMKTEGN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GVDTKAIKSF | PAHLAADSDS | PSTQLRAHEL | KFFPNDDPEA | VSSPRTSDSL | SRSKNSPMEF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FRIDSKDSAS | ELLGLDFGEK | LYSLKSEPLK | PFFTLPDGDS | ASRSFNTSES | KVEFKAQDTI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SRGSDDSVPV | ISFKDAAFDD | VSGTDEGRPD | LLVNLPGELE | STREAAAMGP | TKFTQTNIGI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| IENKLLEAPD | VLCLRLSTEQ | CQAHEEKGIE | ELSDPSGPKS | YSITEKHYAQ | EDPRMLFVAA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VDHSSSGDMS | LLPSSDPKFQ | GLGVVESAVT | ANNTEESLFR | ICSPLSGANE | YIASTDTLKT |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EEVLLFTDQT | DDLAKEEPTS | LFQRDSETKG | ESGLVLEGDK | EIHQIFEDLD | KKLALASRFY |
| 910 | 920 | 930 | 940 | 950 | 960 |
| IPEGCIQRWA | AEMVVALDAL | HREGIVCRDL | NPNNILLNDR | GHIQLTYFSR | WSEVEDSCDS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| DAIERMYCAP | EVGAITEETE | ACDWWSLGAV | LFELLTGKTL | VECHPAGINT | HTTLNMPECV |
| 1030 | 1040 | 1050 | 1060 | ||
| SEEARSLIQQ | LLQFNPLERL | GAGVAGVEDI | KSHPFFTPVD | WAELMR |