P27987
PR
Gene name |
ITPKB |
Protein name |
Inositol-trisphosphate 3-kinase B |
Names |
Inositol 1,4,5-trisphosphate 3-kinase B, IP3 3-kinase B, IP3K B, InsP 3-kinase B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3707 |
EC number |
2.7.1.127: Phosphotransferases with an alcohol group as acceptor |
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 P27987
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P27987-F1 | Predicted | AlphaFoldDB |
877 variants for P27987
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs778363277 CA1424301 |
4 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1254696906 CA345049409 |
5 | C>Y | No |
ClinGen TOPMed |
|
|
CA38631295 rs934109894 |
6 | Y>C | No |
ClinGen TOPMed |
|
|
CA345049395 rs1355062121 |
7 | A>S | No |
ClinGen gnomAD |
|
|
CA1424298 rs765887744 |
8 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA345049382 rs1370245190 |
9 | N>S | No |
ClinGen gnomAD |
|
|
CA1424296 rs750217174 |
10 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345049363 rs1300134424 |
12 | V>E | No |
ClinGen gnomAD |
|
|
rs1040140504 CA38631249 |
14 | M>I | No |
ClinGen Ensembl |
|
|
rs1558103788 CA345049349 |
14 | M>R | No |
ClinGen Ensembl |
|
|
rs371157097 CA38631251 |
14 | M>V | No |
ClinGen Ensembl |
|
|
rs541837953 CA345049329 |
17 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA38631244 rs541837953 |
17 | A>T | No |
ClinGen gnomAD |
|
|
rs774107670 CA1424293 |
19 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM136220 CA345049317 rs1415939415 |
19 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1415939415 CA345049316 |
19 | E>Q | No |
ClinGen gnomAD |
|
|
rs1476635866 CA345049302 |
20 | M>I | No |
ClinGen gnomAD |
|
|
CA345049307 rs1185564860 |
20 | M>K | No |
ClinGen gnomAD |
|
|
CA1424292 rs764123914 |
22 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs533746547 CA1424291 |
22 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1485083848 CA345049282 |
23 | G>D | No |
ClinGen gnomAD |
|
|
CA345049273 rs1237392584 |
25 | G>C | No |
ClinGen gnomAD |
|
|
rs777113953 CA1424287 |
26 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777113953 CA1424288 |
26 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs989400163 CA38631180 |
26 | P>S | No |
ClinGen Ensembl |
|
|
rs1231226747 CA345049255 |
28 | P>L | No |
ClinGen gnomAD |
|
|
CA345049248 rs1218186133 |
29 | S>R | No |
ClinGen gnomAD |
|
|
rs1332729825 CA345049254 |
29 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1424285 rs747405213 |
30 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1424284 rs778072532 |
30 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA345049241 rs1558103711 |
31 | S>G | No |
ClinGen Ensembl |
|
|
rs1384427100 CA345049218 |
34 | P>L | No |
ClinGen TOPMed |
|
|
CA1424280 rs755736300 |
34 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566805698 CA1424279 |
35 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1409160041 CA345049209 |
36 | P>A | No |
ClinGen gnomAD |
|
|
rs757007573 CA345049200 |
37 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs757007573 CA1424277 |
37 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA345049199 rs1425291445 |
38 | R>G | No |
ClinGen gnomAD |
|
|
rs1225490518 CA345049197 |
38 | R>K | No |
ClinGen TOPMed |
|
|
COSM3705568 COSM3705569 rs751375947 CA1424276 |
39 | R>K | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA345049161 rs1484533620 |
44 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1047671866 CA38631040 |
45 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1410178681 CA345049155 |
45 | G>S | No |
ClinGen gnomAD |
|
|
CA345049149 rs1456746601 |
46 | S>R | No |
ClinGen gnomAD |
|
|
CA1424271 rs759710127 |
49 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1571885177 CA345049118 |
50 | P>H | No |
ClinGen Ensembl |
|
|
CA38631004 rs990498340 |
50 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA345049114 rs1379830706 |
51 | G>E | No |
ClinGen gnomAD |
|
|
CA1424269 rs539639164 |
51 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1558103652 CA345049110 |
52 | R>* | No |
ClinGen Ensembl |
|
|
CA345049109 rs1330374800 |
52 | R>K | No |
ClinGen gnomAD |
|
|
rs982138289 CA38630989 |
53 | G>R | No |
ClinGen TOPMed |
|
|
CA345049097 rs1174220903 |
54 | A>S | No |
ClinGen TOPMed |
|
|
CA345049094 rs1444285449 |
54 | A>V | No |
ClinGen gnomAD |
|
|
rs1357259163 CA345049089 |
55 | S>C | No |
ClinGen TOPMed |
|
|
CA345049072 rs1366143053 |
58 | F>L | No |
ClinGen gnomAD |
|
|
CA345049067 rs748732202 |
58 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166323361 CA345049069 |
58 | F>S | No |
ClinGen gnomAD |
|
|
rs1415116717 CA345049063 |
59 | P>S | No |
ClinGen gnomAD |
|
|
rs200397350 CA1424263 |
60 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345049058 rs745414158 |
60 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745414158 CA1424262 |
60 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200397350 CA1424264 |
60 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs958194817 CA38630917 |
62 | E>* | No |
ClinGen TOPMed |
|
|
CA345049050 rs958194817 |
62 | E>K | No |
ClinGen TOPMed |
|
|
CA345049043 rs1571885092 |
63 | S>T | No |
ClinGen Ensembl |
|
|
rs1263704976 CA345049034 |
64 | L>P | No |
ClinGen gnomAD |
|
|
CA345049028 rs1223902613 |
65 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1223902613 CA345049027 |
65 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA345049029 rs1223902613 |
65 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs942722979 CA38630895 |
66 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1424258 rs763988155 |
69 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535597209 CA1424257 |
69 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763988155 CA345049004 |
69 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424255 rs765292630 |
70 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38630830 rs893820182 |
72 | P>A | No |
ClinGen Ensembl |
|
|
CA1424252 rs766692739 |
73 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1424250 rs773421011 |
74 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs77775944 CA1424251 |
74 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1265492392 CA345048968 |
75 | W>C | No |
ClinGen gnomAD |
|
|
rs377301585 CA1424249 |
76 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377301585 CA345048964 |
76 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1424248 rs762110288 |
79 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1424246 rs769157073 |
80 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286420489 CA345048942 |
80 | R>L | No |
ClinGen gnomAD |
|
|
rs1046688186 CA38630759 |
81 | R>G | No |
ClinGen gnomAD |
|
|
CA345048935 rs1366386565 |
81 | R>S | No |
ClinGen TOPMed |
|
|
CA345048928 rs1224524385 |
83 | N>D | No |
ClinGen TOPMed |
|
|
rs1302937752 CA345048921 |
83 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs780740491 CA1424244 |
84 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs528454205 CA38630756 |
85 | S>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1424243 rs564818443 |
85 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1418352175 CA345048908 |
85 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1424242 rs746722872 |
87 | G>S | No |
ClinGen ExAC |
|
|
rs949260075 CA38630741 |
87 | G>V | No |
ClinGen Ensembl |
|
|
rs1219418145 CA345048894 |
88 | S>G | No |
ClinGen TOPMed |
|
|
rs201514855 CA38630724 |
90 | S>R | No |
ClinGen Ensembl |
|
|
CA38630698 rs200752967 |
92 | S>G | No |
ClinGen Ensembl |
|
|
rs1376355976 CA345048866 |
92 | S>N | No |
ClinGen gnomAD |
|
|
CA1424235 rs752436079 |
93 | S>R | No |
ClinGen ExAC |
|
|
rs1558103412 CA345048853 |
94 | G>R | No |
ClinGen Ensembl |
|
|
rs1571884889 CA345048848 |
94 | G>V | No |
ClinGen Ensembl |
|
|
rs1401940379 CA345048846 |
95 | S>G | No |
ClinGen TOPMed |
|
|
CA345048839 rs1558103396 |
96 | S>G | No |
ClinGen Ensembl |
|
|
CA1424228 rs755020532 CA1424229 |
96 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489336217 CA345048831 |
97 | V>L | No |
ClinGen gnomAD |
|
|
CA345048832 rs1489336217 |
97 | V>M | No |
ClinGen gnomAD |
|
|
rs753960233 CA1424227 |
98 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA345048824 rs1349075472 |
98 | S>N | No |
ClinGen TOPMed |
|
|
rs1342605352 CA345048809 |
100 | P>Q | No |
ClinGen gnomAD |
|
|
CA38630613 rs990530815 |
100 | P>S | No |
ClinGen Ensembl |
|
|
rs1257544580 TCGA novel CA345048806 |
101 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA345048795 rs1233447080 |
102 | W>S | No |
ClinGen gnomAD |
|
|
rs766608971 CA345048785 |
103 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs766608971 CA1424226 |
103 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs372742295 CA1424225 |
104 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1424224 rs372742295 |
104 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA38630557 rs908915278 |
105 | R>L | No |
ClinGen gnomAD |
|
|
rs1395967009 CA345048769 |
107 | R>* | No |
ClinGen gnomAD |
|
|
CA38630496 rs1046494192 |
107 | R>Q | No |
ClinGen TOPMed |
|
|
rs983062846 CA38630494 |
108 | G>E | No |
ClinGen TOPMed |
|
|
CA1424222 rs762170571 |
109 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1424220 rs769140718 |
110 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769140718 CA345048754 |
110 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424218 rs776095130 |
112 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424216 rs746531750 |
114 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424217 rs770425816 |
114 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1424215 rs777413397 |
115 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424212 rs778915847 |
117 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747940345 CA1424213 |
117 | G>S | No |
ClinGen ExAC |
|
|
CA1424210 rs202228212 |
119 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345048695 rs1317919486 |
120 | S>C | No |
ClinGen gnomAD |
|
|
rs750473642 CA345048689 |
121 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs750473642 CA1424207 |
121 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs751919520 CA1424204 |
122 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424203 rs200899003 |
124 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763328399 CA1424202 |
125 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA38630275 rs563769960 |
126 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 126 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs531138740 CA1424201 |
126 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760169839 CA1424199 |
127 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs771750478 CA1424197 |
128 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA345048645 rs1370083560 |
129 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs144653273 CA1424196 |
130 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1236143652 CA345048631 |
131 | L>Q | No |
ClinGen gnomAD |
|
|
rs749127079 CA1424193 |
132 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs745950428 CA1424191 |
133 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424188 rs757472640 |
136 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA38630209 rs367980126 |
136 | R>S | No |
ClinGen ESP gnomAD |
|
|
CA38630191 rs893891607 |
139 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 141 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751729437 CA1424187 |
141 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs764327476 CA1424186 |
142 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs758691510 CA1424185 |
146 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345048523 rs1207998479 |
147 | V>A | No |
ClinGen TOPMed |
|
|
CA38630152 rs1053809820 |
147 | V>L | No |
ClinGen Ensembl |
|
|
CA1424184 rs753073172 |
148 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA345048521 rs1558103207 |
148 | G>R | No |
ClinGen Ensembl |
|
|
rs765760618 CA1424183 |
149 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1424182 rs760027588 |
150 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378202095 CA345048500 |
151 | E>K | No |
ClinGen gnomAD |
|
|
rs1180314932 CA345048494 |
152 | A>T | No |
ClinGen gnomAD |
|
|
CA1424181 rs772745613 |
152 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424180 rs766987113 |
153 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1424179 rs761432448 |
154 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424178 rs774108669 |
155 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223800652 CA345048468 |
156 | A>P | No |
ClinGen gnomAD |
|
|
CA1424177 rs768427676 |
158 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA345048443 rs1284265625 |
159 | S>Y | No |
ClinGen gnomAD |
|
|
COSM533048 rs573808314 CA1424174 |
160 | A>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1424175 rs573808314 |
160 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs745835383 CA1424173 |
161 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1424172 rs201786981 |
162 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345048428 rs1434666589 |
162 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 163 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345048422 rs1332850583 |
163 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs540247930 CA1424171 |
164 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA38630008 rs1046325684 |
164 | P>T | No |
ClinGen Ensembl |
|
|
rs374302618 CA1424168 |
165 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374302618 CA1424170 |
165 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374302618 CA1424169 |
165 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1424167 rs753100926 |
166 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1424164 rs3754416 |
167 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1424165 rs3754416 |
167 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779183289 CA1424166 |
167 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 168 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424288317 CA345048398 |
168 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA345048380 rs1364543532 |
171 | R>T | No |
ClinGen TOPMed |
|
|
rs766941679 CA1424163 |
172 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs866561198 CA38629966 |
172 | A>V | No |
ClinGen Ensembl |
|
|
rs3754415 CA1424162 |
173 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345048369 rs3754415 |
173 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1424161 rs751127784 |
174 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1205475792 CA345048352 |
176 | S>F | No |
ClinGen TOPMed |
|
|
CA1424158 rs3754414 |
176 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1424157 rs769528326 |
177 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769528326 CA345048347 |
177 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345048345 rs1374394451 |
178 | C>R | No |
ClinGen TOPMed |
|
|
rs1217640849 CA345048342 |
178 | C>Y | No |
ClinGen gnomAD |
|
|
CA1424156 rs759403950 |
179 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA345048329 rs1284213530 |
180 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1424155 rs776363141 COSM1339317 |
181 | R>H | Variant assessed as Somatic; 0.0001036 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1299960975 CA345048319 |
182 | S>G | No |
ClinGen gnomAD |
|
|
CA345048305 rs1431400436 |
183 | S>R | No |
ClinGen gnomAD |
|
|
rs1358299747 CA345048298 |
184 | S>R | No |
ClinGen gnomAD |
|
|
rs1415777896 CA345048289 |
185 | Q>H | No |
ClinGen gnomAD |
|
|
rs1331972069 CA345048294 |
185 | Q>K | No |
ClinGen gnomAD |
|
|
rs770864555 CA345048287 |
186 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770864555 CA1424154 |
186 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772250184 CA1424152 |
187 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424151 rs772250184 |
187 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424150 rs140720675 |
189 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144143668 CA1424149 |
189 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1424148 rs755259174 |
190 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1237224691 CA345048268 |
190 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1329496802 CA345048256 |
192 | V>A | No |
ClinGen TOPMed |
|
|
rs144805708 CA1424146 |
192 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1424147 rs144805708 |
192 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345048250 rs1316075389 |
193 | Q>R | No |
ClinGen gnomAD |
|
|
rs756747083 CA1424145 |
194 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs370629682 CA1424143 |
195 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370629682 CA1424142 |
195 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1449927340 CA345048236 |
196 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA38629736 CA1424139 RCV000957793 rs16846447 |
197 | S>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345048208 rs1266110977 |
200 | R>Q | No |
ClinGen TOPMed |
|
|
rs1463560680 CA345048195 |
202 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1424136 rs137905849 |
204 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA1424135 rs534663523 CA38629698 |
205 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1422771284 CA345048174 |
205 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1422771284 CA345048175 |
205 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1424134 rs534719664 |
206 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345048167 rs1198234553 |
207 | E>Q | No |
ClinGen TOPMed |
|
|
rs1456626771 CA345048139 |
210 | P>R | No |
ClinGen gnomAD |
|
|
rs570710738 CA345048131 |
211 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552845071 CA1424129 |
212 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1321243260 CA345048117 |
214 | G>R | No |
ClinGen gnomAD |
|
|
rs780636799 CA1424128 |
216 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA1424127 rs199585718 |
217 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345048092 rs1383167101 |
218 | G>W | No |
ClinGen gnomAD |
|
|
CA1424125 rs781770888 |
219 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA345048081 rs1571884295 |
220 | K>E | No |
ClinGen Ensembl |
|
|
CA1424123 rs752262931 |
221 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA38629570 rs936688875 |
222 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs754723327 CA1424121 |
226 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404605442 CA345048042 |
226 | C>S | No |
ClinGen TOPMed |
|
|
rs1571884262 CA345048035 |
227 | S>C | No |
ClinGen Ensembl |
|
|
CA1424120 rs746982540 |
228 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 230 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 231 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1438266261 CA345047995 |
233 | G>R | No |
ClinGen gnomAD |
|
|
rs1252897177 CA345047987 |
234 | M>T | No |
ClinGen gnomAD |
|
|
CA345047977 rs1178054590 |
235 | P>L | No |
ClinGen gnomAD |
|
|
rs773094695 CA1424117 |
236 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1424116 rs767447670 |
237 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761742131 CA1424115 |
238 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA38629528 rs1032441054 |
238 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1424112 rs749567746 |
239 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571884201 CA345047953 |
240 | R>L | No |
ClinGen Ensembl |
|
|
rs1571884201 CA345047955 |
240 | R>Q | No |
ClinGen Ensembl |
|
|
rs770236702 CA345047948 |
241 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 241 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770236702 CA1424110 |
241 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA345047944 rs1307261913 |
242 | A>V | No |
ClinGen gnomAD |
|
|
rs781739803 CA1424108 |
243 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA1424109 rs777658082 |
243 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1424107 rs757837062 |
244 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA345047933 rs1407249961 |
244 | T>I | No |
ClinGen gnomAD |
|
|
rs1366697687 CA345047921 |
246 | S>L | No |
ClinGen gnomAD |
|
|
CA1424105 rs778524851 |
247 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 249 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1424104 rs145241067 |
250 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345047899 rs1365980144 |
250 | G>S | No |
ClinGen gnomAD |
|
|
rs1265295022 CA345047889 COSM1160896 |
251 | P>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1432832364 CA345047894 |
251 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs563985567 CA38629451 |
252 | S>C | No |
ClinGen 1000Genomes gnomAD |
|
|
rs563985567 CA345047884 |
252 | S>F | No |
ClinGen 1000Genomes gnomAD |
|
|
rs766050198 CA1424102 |
253 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1424101 rs755840786 |
253 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM131085 CA345047869 rs1261111211 |
255 | V>L | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1424099 rs548833775 |
257 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1232018375 CA345047856 |
257 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1424100 rs750233514 |
257 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1232018375 CA345047857 |
257 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs774267306 CA1424097 |
258 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs761878359 CA1424098 |
258 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs72754588 CA38629376 |
260 | G>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1424095 rs763150338 |
261 | I>T | No |
ClinGen ExAC |
|
|
rs964542556 CA38629375 |
261 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 261 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775818400 CA1424094 |
262 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs984533443 CA38629358 |
262 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1424093 rs770150702 |
263 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA345047812 rs1366841813 |
264 | S>R | No |
ClinGen TOPMed |
|
|
rs777197995 COSM3360715 CA1424091 COSM3360714 |
266 | R>C | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1424090 rs143170772 |
266 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA345047789 rs1191349461 |
268 | G>V | No |
ClinGen gnomAD |
|
|
CA1424089 rs144978072 |
270 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1424088 rs778164404 |
272 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs950463843 CA38629310 |
272 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA345047763 rs1372340400 |
273 | M>L | No |
ClinGen TOPMed |
|
|
rs1203975476 CA345047761 |
273 | M>T | No |
ClinGen gnomAD |
|
|
CA1424085 rs368372143 |
275 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748802247 CA1424086 |
275 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 276 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1349868150 CA345047720 |
279 | G>S | No |
ClinGen gnomAD |
|
|
CA1424084 rs755822329 |
280 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750215157 CA1424083 |
281 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA345047707 rs1395795761 |
281 | P>S | No |
ClinGen gnomAD |
|
|
rs781083720 CA1424082 |
282 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399583186 CA345047694 |
283 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA345047685 rs1476457186 |
285 | T>S | No |
ClinGen gnomAD |
|
|
rs763972727 CA1424079 |
286 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1426901369 CA345047680 |
286 | R>W | No |
ClinGen gnomAD |
|
|
CA1424078 rs763066529 |
287 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA345047673 rs763066529 |
287 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763066529 CA345047674 |
287 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 289 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345047657 rs1442536143 |
290 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1424077 rs145808681 |
290 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1424075 rs540281009 |
291 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA1424076 rs540281009 |
291 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1424072 rs760976456 |
292 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38629136 rs994418984 |
292 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs201331239 CA38629121 |
293 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA38629119 rs1012844780 |
293 | L>W | No |
ClinGen TOPMed |
|
|
CA1424069 rs145342884 |
294 | G>E | No |
ClinGen ESP ExAC TOPMed |
|
|
rs140811669 CA1424070 |
294 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769406538 CA345047623 |
296 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483907427 CA345047630 |
296 | F>L | No |
ClinGen Ensembl |
|
|
CA1424066 rs139236399 |
297 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345047613 rs1453604994 |
298 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1453604994 CA345047612 |
298 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA345047608 rs1403734252 |
299 | S>N | No |
ClinGen TOPMed |
|
|
rs1376402405 CA345047591 |
301 | T>M | No |
ClinGen gnomAD |
|
|
CA1424065 rs780735244 |
303 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1571883915 CA345047576 |
304 | T>P | No |
ClinGen Ensembl |
|
|
CA345047566 rs1397381771 |
305 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1397381771 CA345047567 |
305 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA345047569 rs1488101959 |
305 | E>K | No |
ClinGen gnomAD |
|
|
CA345047570 rs1488101959 |
305 | E>Q | No |
ClinGen gnomAD |
|
|
rs902547766 CA38629056 |
306 | V>M | No |
ClinGen TOPMed |
|
|
rs12097311 CA1424064 |
307 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs12097311 COSM904765 CA38629054 |
307 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs751319232 CA1424063 |
308 | A>G | No |
ClinGen ExAC gnomAD |
|
|
COSM425465 CA1424062 rs777749333 |
309 | R>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs985680024 CA38629038 |
310 | V>L | No |
ClinGen TOPMed |
|
|
rs1438895458 CA345047534 |
311 | T>K | No |
ClinGen gnomAD |
|
|
CA1424060 rs752789388 |
312 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1424058 rs759710042 |
314 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA345047515 rs766513710 |
315 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1424055 rs761044431 |
315 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766513710 CA1424056 |
315 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs773508986 CA345047502 |
317 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424054 rs773508986 |
317 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142505897 CA1424053 |
317 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1277997673 CA345047488 |
319 | Q>R | No |
ClinGen gnomAD |
|
|
rs35957083 RCV000884163 CA1424051 |
320 | D>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345047485 rs780279284 |
320 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs780279284 CA38628893 |
320 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
VAR_053444 rs3754413 CA1424050 |
322 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1424049 rs745402631 COSM369471 |
322 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs776283583 CA1424048 |
323 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424047 rs770544171 |
324 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs746812748 CA1424046 |
326 | P>S | No |
ClinGen ExAC |
|
|
CA38628767 rs967186920 |
327 | S>A | No |
ClinGen gnomAD |
|
|
rs967186920 CA345047445 |
327 | S>P | No |
ClinGen gnomAD |
|
|
CA38628751 rs756373333 |
328 | G>A | No |
ClinGen TOPMed |
|
|
CA345047439 rs1420445557 |
328 | G>R | No |
ClinGen TOPMed |
|
|
rs1013992181 CA38628718 |
329 | R>G | No |
ClinGen gnomAD |
|
|
rs1271661855 CA345047434 |
329 | R>T | No |
ClinGen gnomAD |
|
|
CA345047422 rs1223967867 |
331 | R>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 331 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748048875 CA1424043 |
331 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs748048875 CA1424044 |
331 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA345047424 rs1223967867 |
331 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1424042 rs779024314 |
332 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA345047401 rs1337281633 |
334 | E>D | No |
ClinGen TOPMed |
|
|
CA345047393 rs755039028 |
335 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351707760 CA345047386 |
337 | Q>K | No |
ClinGen gnomAD |
|
|
CA38628689 rs1006057056 |
337 | Q>R | No |
ClinGen gnomAD |
|
|
rs1427988170 CA345047376 |
338 | P>L | No |
ClinGen TOPMed |
|
|
rs753875402 CA1424040 |
339 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1362145916 CA345047361 |
340 | E>D | No |
ClinGen TOPMed |
|
|
CA345047358 rs1571883736 |
341 | A>S | No |
ClinGen Ensembl |
|
|
rs1571883736 CA345047360 |
341 | A>T | No |
ClinGen Ensembl |
|
|
CA345047351 rs1343168085 |
342 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA345047352 rs1343168085 |
342 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs199795545 CA1424038 |
343 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1273534455 CA345047344 |
344 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1265490662 CA345047334 |
345 | R>K | No |
ClinGen TOPMed |
|
|
rs767919907 CA1424036 |
346 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA345047280 rs1558102471 |
353 | E>Q | No |
ClinGen Ensembl |
|
|
rs776069380 CA345047252 |
357 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776069380 CA1424031 |
357 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750561260 CA38628670 |
357 | A>V | No |
ClinGen Ensembl |
|
|
rs535284459 CA1424030 |
358 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1424029 rs746685185 |
360 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA345047235 rs1428047592 |
360 | R>K | No |
ClinGen gnomAD |
|
|
CA1424028 rs371265531 |
362 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345047224 rs1447985911 |
362 | G>R | No |
ClinGen gnomAD |
|
|
rs771951636 CA1424027 |
363 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345047214 rs368044845 |
364 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368044845 CA38628625 |
364 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368044845 CA1424025 |
364 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs187169541 CA1424023 |
365 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1359746447 CA345047210 |
365 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1431187066 CA345047201 |
366 | G>E | No |
ClinGen gnomAD |
|
|
rs558038469 CA38628595 |
366 | G>R | No |
ClinGen Ensembl |
|
|
rs756338655 CA1424021 |
368 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs756338655 CA345047186 |
368 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1470758458 CA345047180 |
369 | P>L | No |
ClinGen gnomAD |
|
|
rs750565607 CA1424020 |
370 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 371 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371621818 CA1424018 |
372 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA345047163 rs1300879318 |
372 | M>T | No |
ClinGen TOPMed |
|
|
rs1345287765 CA345047148 |
374 | K>R | No |
ClinGen TOPMed |
|
|
rs751937959 CA1424017 |
375 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1025197313 CA38628559 CA345047144 |
375 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs936873356 CA345047120 |
379 | C>G | No |
ClinGen gnomAD |
|
|
CA38628549 rs936873356 |
379 | C>R | No |
ClinGen gnomAD |
|
|
CA38628545 rs1012480218 |
380 | G>V | No |
ClinGen TOPMed |
|
|
CA1424014 rs753362652 |
381 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345047099 rs1264036185 |
382 | P>S | No |
ClinGen gnomAD |
|
|
CA38628541 rs553053957 |
383 | G>D | No |
ClinGen 1000Genomes |
|
|
CA38628535 rs201649438 |
384 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1424013 rs201649438 |
384 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199687729 CA1424012 |
386 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1424011 rs772931431 |
387 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1424010 rs771863706 |
388 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1383026833 CA345047055 |
390 | G>S | No |
ClinGen gnomAD |
|
|
CA1424006 rs569859868 |
391 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1558102344 CA345047039 |
392 | R>T | No |
ClinGen Ensembl |
|
| TCGA novel | 392 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150169246 CA1424004 |
393 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1424005 rs150169246 |
393 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 394 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1424003 rs745954165 |
396 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745954165 CA1424002 |
396 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345047001 rs1446875550 |
398 | V>A | No |
ClinGen gnomAD |
|
|
CA345047003 rs1162026389 |
398 | V>M | No |
ClinGen gnomAD |
|
|
rs374593738 CA1424001 CA345046991 |
400 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374593738 CA38628484 |
400 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1479658584 CA345046986 |
401 | Q>E | No |
ClinGen gnomAD |
|
|
rs1025495031 CA38628483 |
401 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA345046984 rs1025495031 |
401 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs992232838 CA38628478 |
403 | A>E | No |
ClinGen TOPMed |
|
|
rs751886884 CA1424000 |
403 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA1423999 rs751886884 |
403 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA38628471 rs902603532 |
404 | E>G | No |
ClinGen TOPMed |
|
|
CA1423998 rs778155846 |
405 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371559058 CA1423995 |
406 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1243825779 CA345046948 |
407 | D>G | No |
ClinGen TOPMed |
|
|
CA1423994 rs6667260 VAR_023768 |
408 | S>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345046943 rs6667260 |
408 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs6667260 CA345046944 |
408 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200121771 CA1423992 |
410 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1423989 rs768287698 |
415 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768287698 CA1423990 |
415 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345046894 rs1365486555 |
416 | R>M | No |
ClinGen gnomAD |
|
|
rs200399460 CA1423988 |
417 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345046885 rs1386258603 |
417 | A>V | No |
ClinGen gnomAD |
|
|
rs1417576917 CA345046858 |
420 | S>A | No |
ClinGen gnomAD |
|
|
rs943292541 CA38628402 |
420 | S>F | No |
ClinGen TOPMed |
|
|
rs530318369 CA1423986 |
421 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1357435785 CA345046830 |
422 | G>D | No |
ClinGen gnomAD |
|
|
rs866706391 CA38628371 |
423 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 424 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202027962 CA38628361 |
424 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs769999928 CA1423985 |
424 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201162163 CA1423984 |
425 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1423983 rs771115954 |
426 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA345046773 rs771115954 |
426 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 427 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1048888287 CA38628341 |
427 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1048888287 CA345046767 |
427 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1423982 rs747182839 |
428 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA345046757 rs1318319248 |
428 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA345046749 rs1571883375 |
428 | S>R | No |
ClinGen Ensembl |
|
|
rs374372124 CA38628337 |
430 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374372124 CA1423981 |
430 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA38628316 rs919018229 |
431 | P>L | No |
ClinGen TOPMed |
|
|
rs1248519045 CA345046723 |
431 | P>T | No |
ClinGen TOPMed |
|
|
rs755608656 CA1423977 |
432 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779274972 CA345046708 |
432 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779274972 CA1423978 |
432 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1423976 rs767184522 CA1423975 COSM1501423 |
434 | G>R | Variant assessed as Somatic; 0.0 impact. lung haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs751217706 CA1423973 |
435 | G>R | No |
ClinGen ExAC gnomAD |
|
| rs766562741 | 436 | R>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345046653 rs1427293784 |
436 | R>L | No |
ClinGen gnomAD |
|
|
rs1427293784 CA345046654 |
436 | R>P | No |
ClinGen gnomAD |
|
| TCGA novel | 436 | R>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 437 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1423970 rs762600084 |
438 | Q>K | No |
ClinGen ExAC |
|
|
CA1423969 rs775417113 |
439 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 439 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345046612 rs775417113 |
439 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1423968 rs199875970 |
441 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345046590 rs1261005403 |
441 | D>Y | No |
ClinGen gnomAD |
|
|
rs759515207 CA1423967 |
442 | R>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 442 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571883298 CA345046554 |
443 | V>A | No |
ClinGen Ensembl |
|
|
rs770956320 CA1423965 |
444 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1202647694 CA345046546 |
444 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 445 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747092913 CA1423964 |
445 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs773248818 CA1423963 |
447 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs748457093 CA1423961 |
448 | P>L | No |
ClinGen ExAC |
|
|
rs772394345 CA1423962 |
448 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1423960 rs759258462 |
449 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs749765819 CA1423959 |
449 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1423958 rs749765819 COSM904762 |
449 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA345046309 rs1475307050 |
451 | G>D | No |
ClinGen TOPMed |
|
|
CA1423956 rs756763486 |
451 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA38628160 rs373903959 |
454 | G>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1423954 rs763645018 |
454 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA345046258 rs758139747 |
455 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs758139747 CA1423953 |
455 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA345046239 rs752409559 |
456 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345046227 rs1191023981 |
457 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1372418959 CA345046233 |
457 | P>S | No |
ClinGen gnomAD |
|
|
rs370595082 CA1423949 |
461 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1423950 rs35823273 |
461 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1423946 rs773407407 |
464 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1431723743 CA345046182 |
464 | G>R | No |
ClinGen TOPMed |
|
|
CA38628069 rs997584012 |
466 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs528224612 CA345046152 |
468 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM321075 rs528224612 CA1423944 |
468 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs769103833 CA1423942 |
469 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA345046145 rs1380829809 |
470 | I>V | No |
ClinGen gnomAD |
|
|
CA1423941 rs200314048 |
471 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA38628015 rs887708061 |
471 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA38628024 rs200314048 |
471 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780653192 CA1423940 |
472 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1423939 rs200706684 |
472 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390509598 CA345046129 |
473 | G>D | No |
ClinGen gnomAD |
|
|
CA1423935 rs752350855 |
478 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1423936 rs752350855 |
478 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1423934 rs778538440 |
479 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1479628872 CA345046080 |
481 | C>R | No |
ClinGen TOPMed |
|
|
CA1423933 rs754707590 |
481 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs753690167 CA1423932 COSM1339312 |
484 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA345046050 rs766298121 |
485 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345046052 rs992211791 |
485 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA345046051 rs992211791 |
485 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA38627933 rs992211791 |
485 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766298121 CA1423931 |
485 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750447410 CA1423929 |
486 | K>E | No |
ClinGen ExAC gnomAD |
|
|
COSM904760 rs767585580 CA1423928 |
487 | D>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 490 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345046013 rs1330001114 |
491 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 492 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453523055 CA345046000 |
492 | Q>H | No |
ClinGen gnomAD |
|
|
rs376931152 CA38627903 |
493 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376931152 CA1423926 |
493 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201909512 CA38627870 |
494 | P>R | No |
ClinGen gnomAD |
|
|
CA1423925 rs545516725 |
494 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs545516725 CA1423924 |
494 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345045985 rs1402797016 |
495 | P>L | No |
ClinGen TOPMed |
|
|
CA345045988 rs1342154589 COSM361447 |
495 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA1423921 rs530493513 |
497 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1423922 rs770397722 |
497 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776068073 CA1423923 |
497 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1423920 rs781578386 |
498 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422508480 CA345045958 |
500 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 500 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235289872 CA345045944 |
502 | Q>H | No |
ClinGen TOPMed |
|
|
rs563266870 CA1423918 |
502 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1163418977 CA345045937 |
503 | P>L | No |
ClinGen gnomAD |
|
|
CA1423917 rs541675872 |
504 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345045936 CA345045935 rs1469329681 |
504 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1423916 rs541675872 |
504 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1483131358 CA345045916 |
507 | R>K | No |
ClinGen gnomAD |
|
|
rs1558101937 CA345045900 |
509 | W>* | No |
ClinGen Ensembl |
|
|
CA345045892 rs1205369223 |
510 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 511 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753599178 CA1423915 |
512 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA38627769 rs1026661546 |
513 | M>V | No |
ClinGen Ensembl |
|
|
rs779873291 CA1423914 |
514 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs755884492 CA1423913 |
516 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345045780 rs1199087761 |
517 | G>S | No |
ClinGen TOPMed |
|
|
rs761896861 CA1423911 |
519 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs761896861 CA1423910 |
519 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs751749592 CA1423909 |
521 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA1423906 rs775979938 |
522 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1423907 rs775979938 |
522 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351254316 CA345045695 |
522 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA345045697 rs775979938 |
522 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345045669 rs1282482354 |
523 | G>A | No |
ClinGen gnomAD |
|
|
CA345045658 rs1403039562 |
524 | T>I | No |
ClinGen gnomAD |
|
|
CA38627685 rs888865677 |
526 | V>E | No |
ClinGen gnomAD |
|
|
CA345045622 rs888865677 |
526 | V>G | No |
ClinGen gnomAD |
|
|
CA1423904 rs759820662 |
526 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571882956 CA345045609 |
527 | Q>R | No |
ClinGen Ensembl |
|
|
CA1423902 rs771396569 |
529 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1054145585 CA38627682 |
530 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 531 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 532 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747687121 CA1423901 |
532 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA345045502 rs778433758 |
534 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1423900 rs778433758 |
534 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1423899 rs552789538 |
535 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1249014159 CA345045478 |
536 | R>Q | No |
ClinGen gnomAD |
|
|
rs541198818 CA1423898 |
536 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1363897750 CA345045461 |
537 | Q>R | No |
ClinGen TOPMed |
|
|
CA345045445 rs1571882917 |
538 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 538 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1423896 rs755872666 |
539 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs745665378 CA1423895 |
539 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA345045419 rs1571882910 |
539 | S>R | No |
ClinGen Ensembl |
|
|
CA345045427 rs745665378 |
539 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA345045385 rs1424240399 |
541 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA38627629 rs865857179 |
542 | L>F | No |
ClinGen Ensembl |
|
|
CA38627627 rs56336740 |
542 | L>P | No |
ClinGen Ensembl |
|
|
rs868844316 CA345045337 |
543 | P>Q | No |
ClinGen TOPMed |
|
|
rs868844316 CA38627619 |
543 | P>R | No |
ClinGen TOPMed |
|
|
rs149543375 CA38627596 |
545 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs149543375 CA1423894 |
545 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149543375 CA345045304 |
545 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345045313 rs1262615684 |
545 | P>T | No |
ClinGen gnomAD |
|
|
CA345045274 rs1275424506 |
547 | L>Q | No |
ClinGen gnomAD |
|
|
CA345045240 rs751661834 |
549 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1423892 rs751661834 |
549 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1423891 rs764323520 |
550 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758577617 CA1423890 |
551 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1423889 rs708776 |
552 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs708776 CA1423888 VAR_022380 |
552 | P>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs708776 CA345045183 |
552 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345045190 rs1356889550 |
552 | P>T | No |
ClinGen TOPMed |
|
|
CA1423886 rs376357327 |
553 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345045146 rs1386746066 |
555 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1386746066 CA345045150 |
555 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA345045119 rs1180530598 |
556 | F>L | No |
ClinGen TOPMed |
|
|
rs1427856557 CA345045090 |
558 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA345045041 rs925572367 |
560 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1423883 rs773730694 |
560 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1423884 rs773730694 |
560 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38627529 rs925572367 |
560 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1423882 rs777746139 |
561 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345045000 rs1201838974 |
562 | S>N | No |
ClinGen gnomAD |
|
|
rs918114216 CA38627425 |
563 | P>L | No |
ClinGen Ensembl |
|
|
CA1423881 rs151260470 |
563 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1203838395 CA345044954 |
564 | S>R | No |
ClinGen gnomAD |
|
|
CA1423880 rs373148743 |
565 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373148743 CA345044950 |
565 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149227914 CA1423879 |
565 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345044931 rs1244864256 |
566 | I>V | No |
ClinGen TOPMed |
|
|
CA345044878 rs1435590368 |
568 | A>V | No |
ClinGen gnomAD |
|
|
CA345044860 rs1315239053 |
570 | I>V | No |
ClinGen TOPMed |
|
|
CA345044841 rs1334355990 |
571 | I>V | No |
ClinGen gnomAD |
|
|
CA38627370 rs752267534 |
572 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs746898157 CA1423875 |
574 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345044750 rs1417764736 |
575 | G>D | No |
ClinGen gnomAD |
|
|
CA345044757 rs1409921400 |
575 | G>S | No |
ClinGen gnomAD |
|
|
rs758490713 CA1423873 |
576 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1423874 rs777853871 |
576 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394738636 CA345044718 |
577 | Q>R | No |
ClinGen Ensembl |
|
|
CA38627358 rs747976781 |
578 | E>G | No |
ClinGen gnomAD |
|
|
CA38627353 rs555308473 |
579 | D>N | No |
ClinGen 1000Genomes |
|
|
rs1357512835 CA345044668 |
580 | G>A | No |
ClinGen gnomAD |
|
|
rs752879393 CA1423872 |
580 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs765490286 CA38627347 |
581 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1423871 rs765490286 |
581 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs146361736 CA1423870 |
581 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754207011 CA1423869 |
582 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345044607 rs1435972762 |
583 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766603628 CA1423868 |
584 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA345044554 rs192959669 |
585 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1423867 rs192959669 |
585 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1027595052 CA38627331 |
588 | S>N | No |
ClinGen TOPMed |
|
|
rs952158529 CA38627326 |
589 | P>L | No |
ClinGen Ensembl |
|
|
rs774932416 CA345044487 |
590 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1423863 COSM904752 rs774932416 |
590 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs548041016 CA1423864 |
590 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141636221 CA1423862 |
592 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776372934 CA1423860 |
594 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570471678 CA1423859 |
595 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1423858 rs369692488 |
596 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1501424 CA1423857 rs777837462 |
602 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1331006941 CA345044409 |
604 | S>A | No |
ClinGen Ensembl |
|
|
rs866991300 CA38627287 |
604 | S>F | No |
ClinGen Ensembl |
|
|
CA1423855 rs143130106 |
606 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345044366 rs1261747272 |
611 | S>Y | No |
ClinGen TOPMed |
|
| rs762021610 | 611 | S>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 618 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 621 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345044252 rs375439829 |
623 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs750845751 CA1423849 |
623 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs375439829 CA1423850 |
623 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1423846 rs34777857 |
625 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1423847 rs34777857 |
625 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1423845 rs764606849 |
625 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1019940921 CA38627202 |
626 | T>I | No |
ClinGen Ensembl |
|
|
CA345044213 rs1462148734 |
627 | L>R | No |
ClinGen Ensembl |
|
|
CA1423843 rs373285675 |
629 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs868481435 CA38627193 |
630 | N>K | No |
ClinGen TOPMed |
|
|
CA1423842 rs146855114 |
630 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs976254609 CA38627151 |
632 | A>P | No |
ClinGen TOPMed |
|
|
CA345044162 rs1182756734 |
633 | F>L | No |
ClinGen gnomAD |
|
|
rs1287869681 CA345044147 |
634 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 635 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345044133 rs1209803610 |
636 | T>A | No |
ClinGen gnomAD |
|
|
CA1423840 rs773178904 |
636 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1266736777 CA345044125 |
637 | L>M | No |
ClinGen gnomAD |
|
|
CA345044124 rs1266736777 |
637 | L>V | No |
ClinGen gnomAD |
|
|
CA345044116 rs1294406321 |
638 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1294406321 CA345044113 |
638 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1259713566 CA345044065 |
642 | P>S | No |
ClinGen gnomAD |
|
|
rs747985163 CA1423838 |
643 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA345044058 rs1330542610 |
643 | R>K | No |
ClinGen gnomAD |
|
|
CA345042719 rs1418063339 |
645 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs879094428 CA38611865 |
649 | R>K | No |
ClinGen Ensembl |
|
|
rs1179846302 CA345042635 |
651 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 653 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484213148 CA345042600 |
654 | M>I | No |
ClinGen gnomAD |
|
|
CA1423798 rs774241564 |
654 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs775416657 CA1423795 |
660 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs745974661 CA345042519 |
661 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1423793 rs745974661 |
661 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776816083 CA1423792 |
662 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38611804 rs999332082 |
664 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs771229146 CA1423791 |
666 | K>Q | No |
ClinGen ExAC |
|
|
CA345042180 COSM425460 rs1336927158 |
677 | A>T | lung Variant assessed as Somatic; impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs763889785 CA1423778 |
678 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 679 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345041579 rs1571838003 |
681 | K>R | No |
ClinGen Ensembl |
|
|
rs1477209879 CA345041570 |
682 | A>V | No |
ClinGen gnomAD |
|
|
CA345041568 rs1571837995 |
683 | A>P | No |
ClinGen Ensembl |
|
|
CA345041561 rs1199807328 |
684 | A>G | No |
ClinGen gnomAD |
|
|
rs762657431 CA1423777 |
684 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA345041536 rs1571837982 |
688 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 689 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372438913 CA1423775 |
695 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750492550 CA1423773 |
698 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs771048902 CA1423772 |
698 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771048902 CA345041462 |
698 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs750492550 CA38611119 |
698 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1217420804 CA345041456 |
699 | C>F | No |
ClinGen gnomAD |
|
|
rs1275187394 CA345041415 |
702 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs201575747 CA1423771 |
702 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345041376 rs1571837953 |
705 | V>G | No |
ClinGen Ensembl |
|
|
rs552266927 CA1423770 |
707 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779540406 CA1423767 |
709 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050203577 CA345041265 |
712 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA38611039 rs1050203577 |
712 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1427917874 CA345041233 |
714 | A>T | No |
ClinGen gnomAD |
|
|
rs1449307011 CA345041144 |
717 | G>E | No |
ClinGen gnomAD |
|
|
CA1423765 rs745366609 |
718 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465359045 CA345041099 |
719 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs372098524 CA345041020 |
722 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345041024 rs1208159250 |
722 | D>V | No |
ClinGen gnomAD |
|
|
CA345040963 rs1400865402 |
725 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 725 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345040689 rs1381347610 |
735 | D>E | No |
ClinGen gnomAD |
|
|
rs765158296 CA1423758 |
735 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs931390834 CA345040640 |
737 | D>E | No |
ClinGen gnomAD |
|
|
CA345040652 rs1449651016 |
737 | D>N | No |
ClinGen gnomAD |
|
|
rs753788592 CA1423756 |
738 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 739 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772232395 CA1423752 |
746 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1423753 rs773435795 |
746 | M>V | No |
ClinGen ExAC |
|
| TCGA novel | 749 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1423726 rs140588026 |
757 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771586213 CA1423725 |
757 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA1423722 rs200031424 |
760 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1423721 rs200031424 |
760 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1423723 rs200871560 |
760 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA38608211 rs374484908 |
761 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1455765540 CA345039345 |
762 | K>E | No |
ClinGen gnomAD |
|
|
CA345039296 rs1159824630 |
766 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1432325367 CA345039204 |
771 | Q>E | No |
ClinGen gnomAD |
|
|
CA1423717 rs767646058 |
775 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571835351 CA345039117 |
777 | D>A | No |
ClinGen Ensembl |
|
|
CA345039127 rs1247090631 |
777 | D>N | No |
ClinGen gnomAD |
|
|
rs757416349 CA1423716 |
778 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs764431826 COSM1339308 CA1423714 |
779 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1423712 rs775754706 |
781 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs751539212 CA1423710 COSM1285621 |
783 | E>K | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA345039011 rs751539212 |
783 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1423707 rs771533128 |
786 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1390942767 CA345038862 |
787 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA345038844 rs747681774 |
788 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189038655 COSM464042 CA345038833 |
789 | R>Q | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1442556939 CA345038837 |
789 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1423704 rs377292206 |
792 | T>I | No |
ClinGen ESP ExAC |
|
|
rs984753711 CA38608121 |
795 | R>W | No |
ClinGen gnomAD |
|
|
rs1169570081 CA345038612 |
797 | M>L | No |
ClinGen TOPMed |
|
| TCGA novel | 801 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571835301 CA345038502 |
801 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 803 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433624793 CA345038469 |
803 | I>V | No |
ClinGen gnomAD |
|
|
rs1186295177 CA345038390 |
806 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1423699 rs781307539 |
807 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1423698 rs757359522 |
807 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA38608067 rs974972430 |
811 | F>V | No |
ClinGen Ensembl |
|
| TCGA novel | 815 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs552071294 | 818 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112559528 CA1423665 |
820 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs759372377 CA1423666 |
820 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1423664 rs746879876 |
821 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1423663 rs746879876 COSM1339306 |
821 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1423662 rs777802198 |
822 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755294781 CA1423658 COSM293137 |
825 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA345037245 rs778973917 |
825 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1423657 rs749640530 |
827 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs189824231 CA38606861 |
829 | K>E | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1423656 rs780337875 |
830 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA1423654 rs750886696 |
833 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1423652 rs757822088 |
834 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1423653 rs763524253 |
834 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 836 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1321301160 CA345037099 |
837 | T>A | No |
ClinGen TOPMed |
|
|
COSM1295925 CA1423650 rs564970025 |
838 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1364769485 CA345037055 |
843 | F>Y | No |
ClinGen gnomAD |
|
|
rs549936621 CA1423648 |
848 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs142841950 CA1423647 |
849 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1558298707 CA345036522 |
852 | I>V | No |
ClinGen Ensembl |
|
|
rs767344981 CA1423622 |
853 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1423623 rs41314270 |
853 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1426759301 CA345036510 |
854 | Y>C | No |
ClinGen gnomAD |
|
|
rs1174457089 CA345036503 |
855 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1423621 rs761753956 |
856 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1423619 rs768680944 |
857 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1423620 rs774159006 |
857 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245492112 CA345036487 |
858 | L>P | No |
ClinGen TOPMed |
|
|
CA345036463 rs1558298687 |
862 | R>G | No |
ClinGen Ensembl |
|
|
rs142586470 CA1423618 |
862 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA345036453 rs1236764775 |
864 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1423616 rs139555467 |
867 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA38605674 rs746210669 |
869 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1423615 rs746210669 |
869 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747513871 CA1423611 |
872 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs577260600 CA1423586 |
876 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs577260600 CA345035917 |
876 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1160209336 CA345035893 |
877 | I>T | No |
ClinGen TOPMed |
|
|
rs1215663566 CA345035865 |
879 | S>N | No |
ClinGen gnomAD |
|
|
CA1423584 rs764010154 |
879 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs765231627 CA1423581 |
886 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759559694 CA1423580 |
889 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1571831462 CA345035677 |
891 | A>V | No |
ClinGen Ensembl |
|
|
CA1423579 rs776891963 |
892 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 894 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330505139 CA345035627 |
894 | W>S | No |
ClinGen TOPMed |
|
|
rs1468545461 CA345035615 |
895 | M>V | No |
ClinGen gnomAD |
|
|
rs900260287 CA38603499 |
897 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA345035536 rs1326847567 |
899 | G>A | No |
ClinGen TOPMed |
|
|
CA38603483 rs979697450 |
901 | T>P | No |
ClinGen Ensembl |
|
|
rs112742624 CA38603464 |
902 | T>M | No |
ClinGen gnomAD |
|
|
CA345035486 rs1367164360 |
904 | L>V | No |
ClinGen gnomAD |
|
|
rs773771846 CA1423576 |
905 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs772579308 CA1423575 |
913 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1423571 rs745416833 |
914 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs148881608 CA1423572 |
914 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1423573 rs148881608 |
914 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143399880 CA38603427 |
917 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1423570 rs200463975 |
918 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1454296913 CA345035255 |
921 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345035252 rs1454296913 |
921 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1423568 rs746790634 |
921 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs368531804 CA1423567 |
927 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345035131 rs1216868392 |
929 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA345035127 rs1216868392 |
929 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1423563 rs755057596 |
930 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 931 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs554325553 CA1423561 COSM904742 |
933 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA345035095 rs554325553 |
933 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345035086 rs1380661104 |
934 | D>G | No |
ClinGen gnomAD |
|
|
CA345035090 rs1307246640 |
934 | D>N | No |
ClinGen TOPMed |
|
|
rs141265042 CA38603354 |
937 | T>N | No |
ClinGen ESP |
|
|
CA345035058 rs1242167363 |
938 | E>D | No |
ClinGen TOPMed |
|
|
CA345035063 rs1373422478 |
938 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1423556 rs774974157 |
939 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1423555 rs769082765 |
940 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA1423554 rs144277668 |
941 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1423553 rs545126789 |
943 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429778143 CA345035021 |
944 | P>L | No |
ClinGen gnomAD |
|
|
CA1423552 rs41268733 |
945 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1423549 rs202144792 |
946 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with P27987
No regional properties for P27987
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P27987 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.1.127 | Phosphotransferases with an alcohol group as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| inositol hexakisphosphate kinase activity | Catalysis of the reaction: ATP + 1D-myo-inositol 1,2,3,4,5,6-hexakisphosphate = ADP + diphospho-1D-myo-inositol-pentakisphosphate. The isomeric configuration of diphospho-1D-myo-inositol-pentakisphosphate (PP-IP5) is unknown. |
| inositol-1,4,5-trisphosphate 3-kinase activity | Catalysis of the reaction: 1D-myo-inositol 1,4,5-trisphosphate + ATP = 1D-myo-inositol 1,3,4,5-tetrakisphosphate + ADP + 2 H(+). |
| kinase activity | Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
16 GO annotations of biological process
| Name | Definition |
|---|---|
| cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| cellular response to calcium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
| common myeloid progenitor cell proliferation | The multiplication or reproduction of common myeloid progenitor cells, resulting in the expansion of a cell population. A common myeloid progenitor cell is a progenitor cell committed to the myeloid lineage. |
| inositol phosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of an inositol phosphate, 1,2,3,4,5,6-cyclohexanehexol, with one or more phosphate groups attached. |
| inositol trisphosphate metabolic process | The chemical reactions and pathways involving myo-inositol phosphate, 1,2,3,4,5,6-cyclohexanehexol, with three phosphate groups attached. |
| MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| myeloid cell homeostasis | The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. |
| negative regulation of myeloid cell differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid cell differentiation. |
| negative regulation of neutrophil apoptotic process | Any process that stops, prevents, or reduces the frequency, rate, or extent of neutrophil apoptotic process. |
| phosphatidylinositol phosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate. |
| phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
| positive regulation of alpha-beta T cell differentiation | Any process that activates or increases the frequency, rate or extent of alpha-beta T cell differentiation. |
| positive regulation of Ras protein signal transduction | Any process that activates or increases the frequency, rate or extent of Ras protein signal transduction. |
| positive thymic T cell selection | The process of sparing immature T cells in the thymus which react with self-MHC protein complexes with low affinity levels from apoptotic death. |
| regulation of protein phosphorylation | Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in 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. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q92551 | IP6K1 | Inositol hexakisphosphate kinase 1 | Homo sapiens (Human) | PR |
| Q96DU7 | ITPKC | Inositol-trisphosphate 3-kinase C | Homo sapiens (Human) | PR |
| P23677 | ITPKA | Inositol-trisphosphate 3-kinase A | Homo sapiens (Human) | PR |
| Q8R071 | Itpka | Inositol-trisphosphate 3-kinase A | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAVYCYALNS | LVIMNSANEM | KSGGGPGPSG | SETPPPPRRA | VLSPGSVFSP | GRGASFLFPP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AESLSPEEPR | SPGGWRSGRR | RLNSSSGSGS | GSSGSSVSSP | SWAGRLRGDR | QQVVAAGTLS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PPGPEEAKRK | LRILQRELQN | VQVNQKVGMF | EAHIQAQSSA | IQAPRSPRLG | RARSPSPCPF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RSSSQPPGRV | LVQGARSEER | RTKSWGEQCP | ETSGTDSGRK | GGPSLCSSQV | KKGMPPLPGR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AAPTGSEAQG | PSAFVRMEKG | IPASPRCGSP | TAMEIDKRGS | PTPGTRSCLA | PSLGLFGASL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TMATEVAARV | TSTGPHRPQD | LALTEPSGRA | RELEDLQPPE | ALVERQGQFL | GSETSPAPER |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GGPRDGEPPG | KMGKGYLPCG | MPGSGEPEVG | KRPEETTVSV | QSAESSDSLS | WSRLPRALAS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VGPEEARSGA | PVGGGRWQLS | DRVEGGSPTL | GLLGGSPSAQ | PGTGNVEAGI | PSGRMLEPLP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CWDAAKDLKE | PQCPPGDRVG | VQPGNSRVWQ | GTMEKAGLAW | TRGTGVQSEG | TWESQRQDSD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ALPSPELLPQ | DPDKPFLRKA | CSPSNIPAVI | ITDMGTQEDG | ALEETQGSPR | GNLPLRKLSS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SSASSTGFSS | SYEDSEEDIS | SDPERTLDPN | SAFLHTLDQQ | KPRVSKSWRK | IKNMVHWSPF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VMSFKKKYPW | IQLAGHAGSF | KAAANGRILK | KHCESEQRCL | DRLMVDVLRP | FVPAYHGDVV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KDGERYNQMD | DLLADFDSPC | VMDCKMGIRT | YLEEELTKAR | KKPSLRKDMY | QKMIEVDPEA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PTEEEKAQRA | VTKPRYMQWR | ETISSTATLG | FRIEGIKKED | GTVNRDFKKT | KTREQVTEAF |
| 850 | 860 | 870 | 880 | 890 | 900 |
| REFTKGNHNI | LIAYRDRLKA | IRTTLEVSPF | FKCHEVIGSS | LLFIHDKKEQ | AKVWMIDFGK |
| 910 | 920 | 930 | 940 | ||
| TTPLPEGQTL | QHDVPWQEGN | REDGYLSGLN | NLVDILTEMS | QDAPLA |