Q5TCZ1
SS
Gene name |
SH3PXD2A (FISH, KIAA0418, SH3MD1, TKS5) |
Protein name |
SH3 and PX domain-containing protein 2A |
Names |
Adapter protein TKS5 , Five SH3 domain-containing protein , SH3 multiple domains protein 1 , Tyrosine kinase substrate with five SH3 domains |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9644 |
EC number |
|
Protein Class |
|
Descriptions
The scaffold protein SH3 and PX domain-containing protein 2B (SH3PXD2B, also known as Tks4) is a member of the p47phox-related organizer superfamily and plays a key role in cell motility by affecting the formation of podosomes and invadopodia. In addition, Tks4 is involved in the epidermal growth factor (EGF) signaling pathway, in which EGF induces the translocation of Tks4 from the cytoplasm to the plasma membrane. Tks4 contains an N-terminal region: a phosphoinositide-binding PX domain is followed by two SH3 domains (tandem SH3) and a proline-rich region (PRR). The PRR is followed by a third and a fourth SH3 domain connected by a long (~420 residues) unstructured region. In the autoinhibited state, the tandem SH3 domain of Tks4 binds the PRR and thus the third SH3 domain interacts with the PX domain. The association of the PX domain and the third SH3 domain contributes to the formation of the autoinhibited conformation, and the PRR following the second SH3 domain folds back and associates with the tandem SH3, yielding a compact conformation.
Autoinhibitory domains (AIDs)
Target domain |
4-128 (PX domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
5 structures for Q5TCZ1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DNU | NMR | - | A | 268-325 | PDB |
| 2EGA | NMR | - | A | 168-224 | PDB |
| 2EGC | NMR | - | A | 1072-1133 | PDB |
| 2EKH | NMR | - | A | 842-908 | PDB |
| AF-Q5TCZ1-F1 | Predicted | AlphaFoldDB |
1170 variants for Q5TCZ1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1005117513 | 2 | L>F | No |
TOPMed gnomAD |
|
| rs1360021870 | 2 | L>P | No |
TOPMed gnomAD |
|
| rs1313364610 | 3 | A>T | No |
TOPMed gnomAD |
|
| rs1842930397 | 4 | Y>C | No | gnomAD | |
| rs1589487228 | 4 | Y>H | No | Ensembl | |
| rs1842930355 | 5 | C>R | No | TOPMed | |
| rs754861600 | 5 | C>S | No |
ExAC TOPMed gnomAD |
|
| rs754861600 | 5 | C>Y | No |
ExAC TOPMed gnomAD |
|
| rs753738859 | 6 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs753738859 | 6 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2134337226 | 8 | D>V | No | Ensembl | |
| rs1842930225 | 9 | A>V | No | TOPMed | |
| rs1485231470 | 10 | T>A | No |
TOPMed gnomAD |
|
| TCGA novel | 10 | T>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1589487207 | 11 | V>A | No | Ensembl | |
| rs1842930098 | 12 | V>E | No | Ensembl | |
| rs1842930076 | 14 | V>A | No | Ensembl | |
| rs1589487205 | 15 | E>A | No | Ensembl | |
| rs1842930040 | 17 | R>W | No | Ensembl | |
| rs1257619915 | 18 | R>K | No | gnomAD | |
| rs2134337185 | 19 | N>T | No | Ensembl | |
| rs1842929939 | 20 | P>R | No | Ensembl | |
| rs1842929862 | 24 | Y>F | No | TOPMed | |
| rs1190371040 | 27 | I>V | No |
TOPMed gnomAD |
|
| rs961692005 | 29 | N>D | No |
TOPMed gnomAD |
|
| rs566845122 | 29 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1202685286 | 31 | T>I | No |
TOPMed gnomAD |
|
| rs746470700 | 35 | S>A | No | Ensembl | |
| rs1589460543 | 36 | T>P | No | Ensembl | |
| rs748432001 | 37 | S>C | No |
ExAC gnomAD |
|
| COSM3433890 | 37 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM914443 | 39 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1589460539 | 39 | T>S | No | Ensembl | |
| rs779004473 | 40 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1433448388 | 41 | Y>C | No | TOPMed | |
| rs1450453209 | 42 | R>Q | No |
TOPMed gnomAD |
|
| rs1589460534 | 42 | R>W | No | Ensembl | |
| rs1353675755 | 43 | R>K | No |
TOPMed gnomAD |
|
| COSM914442 | 47 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2039144383 | 48 | F>S | No | Ensembl | |
| rs142363666 | 49 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs766880400 | 52 | M>V | No |
ExAC gnomAD |
|
| TCGA novel | 56 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1043329139 | 56 | D>V | No |
TOPMed gnomAD |
|
| rs761240387 | 57 | K>E | No |
ExAC gnomAD |
|
| rs1165422933 | 59 | P>S | No |
TOPMed gnomAD |
|
| rs2038763260 | 60 | I>F | No | Ensembl | |
| rs1337528700 | 60 | I>T | No |
TOPMed gnomAD |
|
| COSM4011412 | 63 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs943566522 | 65 | K>N | No |
TOPMed gnomAD |
|
| rs2038763108 | 66 | D>Y | No | TOPMed | |
| rs1304573101 | 68 | K>M | No | gnomAD | |
| rs773270349 | 69 | Q>K | No |
ExAC gnomAD |
|
| rs772086631 | 70 | R>G | No |
ExAC gnomAD |
|
| rs1438282546 | 73 | P>S | No | gnomAD | |
| rs1168652934 | 80 | L>F | No |
TOPMed gnomAD |
|
| rs1168652934 | 80 | L>I | No |
TOPMed gnomAD |
|
| rs2038373180 | 81 | F>L | No | TOPMed | |
| rs1476517906 | 82 | R>C | No | gnomAD | |
| rs200780520 | 82 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs768916662 | 83 | R>K | No |
ExAC gnomAD |
|
| rs1380286672 | 84 | S>N | No |
TOPMed gnomAD |
|
| rs1259473323 | 86 | I>F | No | gnomAD | |
| rs775793318 | 87 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs749529339 | 87 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs769645818 | 88 | D>N | No |
ExAC gnomAD |
|
| COSM3790449 | 88 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs140324699 | 89 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs140324699 | 89 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 91 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1286422479 | 92 | K>R | No |
TOPMed gnomAD |
|
| rs1340179182 | 96 | P>S | No | gnomAD | |
| rs1277117176 | 97 | I>V | No | gnomAD | |
| rs1398442660 | 98 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs758059765 | 102 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs143409187 | 102 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs143409187 | 102 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs758059765 | 102 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| COSM6128098 | 103 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs372408078 | 103 | A>S | No |
ESP gnomAD |
|
|
rs372408078 COSM1345615 |
103 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA gnomAD |
| rs2134172317 | 103 | A>V | No | Ensembl | |
| rs2038216443 | 104 | L>V | No | Ensembl | |
| COSM914441 | 105 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2038216409 | 105 | V>F | No |
TOPMed gnomAD |
|
| rs139971124 | 106 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs2038216314 | 106 | R>W | No | TOPMed | |
| rs764693058 | 109 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs764693058 | 109 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs764693058 | 109 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs149867987 | 110 | H>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs149867987 | 110 | H>N | No |
ESP ExAC TOPMed gnomAD |
|
|
rs777796332 COSM5068029 |
110 | H>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| COSM5747181 | 110 | H>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs149867987 | 110 | H>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs1166375374 | 112 | S>L | No | TOPMed | |
|
COSM3433888 rs1176333434 |
116 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1176333434 | 116 | E>Q | No |
TOPMed gnomAD |
|
| rs1243361641 | 117 | V>L | No | gnomAD | |
| rs778464772 | 118 | F>L | No | TOPMed | |
| COSM683464 | 119 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs537392376 | 119 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs760527451 | 119 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs867071115 | 122 | E>K | No |
TOPMed gnomAD |
|
| COSM914439 | 123 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs139050830 | 124 | R>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs200891786 | 124 | R>L | No |
TOPMed gnomAD |
|
| rs200891786 | 124 | R>Q | No |
TOPMed gnomAD |
|
| rs1398061001 | 125 | P>A | No | gnomAD | |
| rs773914702 | 125 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs748879853 | 126 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs200059409 | 128 | V>I | No | Ensembl | |
| rs1252197515 | 129 | N>K | No |
TOPMed gnomAD |
|
| rs552256820 | 129 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs552256820 | 129 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs1425147269 | 131 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs200512666 | 133 | E>G | No |
1000Genomes ExAC gnomAD |
|
| rs200512666 | 133 | E>V | No |
1000Genomes ExAC gnomAD |
|
| rs1306879501 | 135 | Y>C | No | gnomAD | |
| rs914094677 | 136 | G>S | No |
TOPMed gnomAD |
|
| rs769317587 | 137 | S>N | No |
ExAC gnomAD |
|
| rs759297756 | 138 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs759297756 | 138 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs1324926595 | 138 | S>P | No | gnomAD | |
| rs2037778000 | 140 | R>T | No | Ensembl | |
| rs551918548 | 141 | K>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2037777837 | 142 | S>L | No | Ensembl | |
| rs149386041 | 144 | W>* | No |
1000Genomes ExAC gnomAD |
|
| rs1592291585 | 146 | S>A | No | Ensembl | |
| rs913500077 | 147 | S>G | No | Ensembl | |
| rs1330815454 | 147 | S>I | No | gnomAD | |
| rs1405864132 | 147 | S>R | No |
TOPMed gnomAD |
|
| rs1415818432 | 150 | E>* | No | gnomAD | |
| rs2037416161 | 150 | E>D | No | TOPMed | |
| rs2037416194 | 150 | E>G | No | Ensembl | |
| rs1592291572 | 151 | S>A | No | Ensembl | |
| rs200454434 | 151 | S>L | No |
1000Genomes ExAC gnomAD |
|
| rs2037415974 | 152 | P>S | No | Ensembl | |
| rs763250710 | 153 | K>R | No |
ExAC gnomAD |
|
| rs866919000 | 154 | K>N | No | Ensembl | |
| rs770243854 | 155 | D>V | No |
ExAC gnomAD |
|
| rs370795778 | 156 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs370795778 | 156 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1221724532 | 157 | T>I | No |
TOPMed gnomAD |
|
| rs1221724532 | 157 | T>R | No |
TOPMed gnomAD |
|
| rs772220322 | 158 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs1452855343 | 158 | G>R | No |
TOPMed gnomAD |
|
| rs1190180926 | 159 | A>T | No | gnomAD | |
|
COSM3367881 COSM4908014 |
160 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1261389191 | 160 | D>N | No |
TOPMed gnomAD |
|
| rs778626806 | 161 | A>T | No |
ExAC gnomAD |
|
| rs954522846 | 161 | A>V | No |
TOPMed gnomAD |
|
| rs1260567777 | 162 | T>N | No | gnomAD | |
| rs1484613264 | 163 | A>G | No |
TOPMed gnomAD |
|
| rs1211083764 | 163 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs548414943 | 164 | E>D | No |
1000Genomes ExAC gnomAD |
|
| rs749994972 | 164 | E>K | No |
ExAC gnomAD |
|
| rs2037291614 | 168 | L>P | No | gnomAD | |
| rs1398081631 | 169 | E>G | No | gnomAD | |
| rs1279938709 | 169 | E>Q | No |
TOPMed gnomAD |
|
| rs753101031 | 170 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs772430992 | 171 | Y>H | No |
ExAC TOPMed gnomAD |
|
|
rs1175310067 COSM1345613 COSM4783203 |
172 | V>A | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
| rs1175310067 | 172 | V>E | No | gnomAD | |
| rs754292436 | 172 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs754292436 | 172 | V>M | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 173 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs766899736 | 175 | S>F | No |
ExAC gnomAD |
|
| rs566015876 | 176 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs566015876 | 176 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs773325825 | 177 | Y>H | No | ExAC | |
| rs956302804 | 179 | K>T | No | Ensembl | |
| rs2037290844 | 181 | E>A | No | TOPMed | |
|
COSM4867424 COSM914438 |
181 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3433887 COSM4894610 |
182 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1173441198 | 182 | N>S | No | gnomAD | |
| rs2037290719 | 183 | S>T | No | gnomAD | |
| rs2037290624 | 184 | E>G | No | Ensembl | |
| rs761878823 | 186 | S>N | No |
ExAC gnomAD |
|
| rs1564856885 | 187 | L>F | No | Ensembl | |
| rs1592287512 | 188 | Q>H | No | Ensembl | |
| rs1312431998 | 189 | A>D | No |
TOPMed gnomAD |
|
| rs768289473 | 189 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs768289473 | 189 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1414110348 | 190 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1592287501 | 192 | V>G | No | Ensembl | |
| rs1235904657 | 192 | V>M | No | gnomAD | |
| rs1592287499 | 193 | V>G | No | Ensembl | |
| rs2037289951 | 196 | I>F | No | Ensembl | |
| rs774661042 | 197 | E>K | No | Ensembl | |
| rs1564856867 | 200 | E>D | No | TOPMed | |
| rs769902522 | 200 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs769902522 | 200 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs2037289665 | 201 | S>C | No | TOPMed | |
| rs1216715805 | 202 | G>S | No | gnomAD | |
| rs777256655 | 209 | S>C | No |
ExAC gnomAD |
|
| rs777256655 | 209 | S>Y | No |
ExAC gnomAD |
|
| rs1179938628 | 211 | E>K | No | gnomAD | |
| rs1268864724 | 212 | Q>E | No |
TOPMed gnomAD |
|
| rs756487203 | 215 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs2036710751 | 216 | P>L | No | TOPMed | |
| rs370026425 | 217 | A>V | No |
ESP ExAC gnomAD |
|
| rs2036710645 | 220 | L>V | No | Ensembl | |
| rs2036710613 | 222 | A>V | No | gnomAD | |
| rs1790515567 | 224 | N>S | No | Ensembl | |
| TCGA novel | 224 | N>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751711689 | 225 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs376429114 | 226 | T>I | No |
ESP TOPMed gnomAD |
|
| rs973127894 | 227 | R>G | No |
TOPMed gnomAD |
|
| rs573274664 | 227 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs973127894 | 227 | R>W | No |
TOPMed gnomAD |
|
| rs199652969 | 228 | D>E | No | Ensembl | |
| rs879181251 | 228 | D>G | No | Ensembl | |
| rs763334045 | 228 | D>N | No |
ExAC gnomAD |
|
| rs763334045 | 228 | D>Y | No |
ExAC gnomAD |
|
| TCGA novel | 229 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3866434 COSM3433886 |
230 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs147297499 | 231 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs776390133 | 232 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1303116164 | 233 | N>D | No |
TOPMed gnomAD |
|
| rs770939335 | 233 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs144033187 | 235 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs772833585 | 236 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs2036709804 | 238 | G>R | No | gnomAD | |
| rs771704485 | 239 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1453401781 | 239 | E>V | No | gnomAD | |
| rs2036623228 | 240 | V>A | No | Ensembl | |
| rs2133949316 | 242 | K>* | No | Ensembl | |
| rs925458185 | 242 | K>R | No |
TOPMed gnomAD |
|
| rs2036623125 | 243 | R>K | No | Ensembl | |
| rs746206752 | 244 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs1341449107 | 244 | R>H | No |
TOPMed gnomAD |
|
| rs1592267709 | 246 | A>T | No | Ensembl | |
| rs2036622868 | 247 | H>Y | No | TOPMed | |
| rs893064778 | 249 | R>L | No |
TOPMed gnomAD |
|
| rs893064778 | 249 | R>Q | No |
TOPMed gnomAD |
|
| rs1009820415 | 249 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1054273824 | 250 | R>C | No |
TOPMed gnomAD |
|
| rs910209228 | 250 | R>H | No |
TOPMed gnomAD |
|
| rs537151936 | 253 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes NCI-TCGA TOPMed gnomAD |
| rs1472972520 | 253 | R>H | No |
TOPMed gnomAD |
|
| rs578015462 | 254 | R>L | No |
1000Genomes TOPMed gnomAD |
|
| rs578015462 | 254 | R>Q | No |
1000Genomes TOPMed gnomAD |
|
| rs1370037332 | 254 | R>W | No |
TOPMed gnomAD |
|
| rs1443673334 | 255 | W>R | No | gnomAD | |
| rs2036622321 | 256 | T>A | No | TOPMed | |
| rs1238229110 | 257 | L>V | No | gnomAD | |
| rs1197396033 | 258 | G>R | No | gnomAD | |
| rs1197396033 | 258 | G>S | No | gnomAD | |
| rs1045559878 | 259 | G>A | No |
TOPMed gnomAD |
|
| rs927146287 | 259 | G>R | No |
TOPMed gnomAD |
|
| rs927146287 | 259 | G>W | No |
TOPMed gnomAD |
|
| rs971974123 | 260 | M>I | No | TOPMed | |
| rs1195745446 | 260 | M>V | No | gnomAD | |
| rs1564846600 | 263 | R>S | No | Ensembl | |
| rs1317684227 | 266 | S>N | No |
TOPMed gnomAD |
|
| rs2036621897 | 267 | R>* | No |
TOPMed gnomAD |
|
| rs557881180 | 267 | R>Q | No |
1000Genomes TOPMed gnomAD |
|
| rs2036621765 | 268 | E>Q | No | Ensembl | |
| rs775020448 | 269 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1406563761 | 271 | Y>F | No | gnomAD | |
| rs747363516 | 271 | Y>H | No |
ExAC gnomAD |
|
| rs1271631505 | 274 | V>E | No | gnomAD | |
| rs138514344 | 274 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs2036533678 | 275 | Q>H | No | TOPMed | |
| rs779197677 | 277 | Y>H | No |
ExAC TOPMed gnomAD |
|
| rs375071473 | 278 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs375071473 | 278 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs900349964 | 279 | S>N | No | TOPMed | |
| rs780174314 | 283 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs2036533471 | 283 | D>N | No | Ensembl | |
| rs750272182 | 284 | E>D | No |
ExAC gnomAD |
|
| rs755909162 | 284 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1283856620 | 285 | I>M | No |
TOPMed gnomAD |
|
| rs1378075924 | 288 | E>K | No |
TOPMed gnomAD |
|
|
COSM4814567 COSM427022 |
288 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1395793197 | 289 | K>N | No |
TOPMed gnomAD |
|
| rs767433126 | 290 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs751502344 | 291 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1008944183 | 292 | T>R | No | Ensembl | |
| rs1226877575 | 293 | V>A | No | Ensembl | |
| rs754882553 | 294 | E>D | No | TOPMed | |
| rs1592264677 | 295 | V>A | No | Ensembl | |
| rs1592264677 | 295 | V>G | No | Ensembl | |
| rs143819462 | 297 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1428185989 | 297 | R>W | No |
TOPMed gnomAD |
|
|
COSM1225584 rs1470631641 |
298 | K>N | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
| rs769369053 | 300 | L>V | No |
ExAC gnomAD |
|
| rs199626166 | 301 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs577209053 | 301 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1424761157 | 302 | G>A | No |
TOPMed gnomAD |
|
| rs1204892775 | 302 | G>S | No | gnomAD | |
| rs1188604535 | 303 | W>R | No |
TOPMed gnomAD |
|
| rs1187868099 | 305 | Y>C | No |
TOPMed gnomAD |
|
| rs1485117246 | 305 | Y>H | No | gnomAD | |
| rs2036532113 | 307 | R>K | No | Ensembl | |
| rs2036454647 | 309 | L>V | No | TOPMed | |
| rs2036454470 | 312 | E>D | No | TOPMed | |
|
COSM200410 rs984514262 |
315 | A>V | large_intestine central_nervous_system [Cosmic] | No |
cosmic curated gnomAD |
| rs138730731 | 320 | L>V | No |
ESP TOPMed |
|
| rs2036454081 | 322 | K>E | No | TOPMed | |
| rs1564844181 | 326 | D>G | No | Ensembl | |
| TCGA novel | 328 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1592262532 | 329 | T>A | No | Ensembl | |
| rs201054626 | 330 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs746032143 | 330 | R>W | No |
ExAC TOPMed gnomAD |
|
|
COSM914437 COSM4871316 |
331 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1184644032 | 332 | K>N | No | gnomAD | |
| rs2036453678 | 333 | N>H | No | gnomAD | |
| TCGA novel | 333 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs373027762 | 336 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs542587373 | 340 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs758325237 | 341 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs1254969661 | 344 | I>V | No |
TOPMed gnomAD |
|
| rs754545170 | 345 | M>T | No |
ExAC gnomAD |
|
| rs1357018704 | 347 | I>M | No | gnomAD | |
| rs868692298 | 348 | S>G | No | Ensembl | |
| rs1290516560 | 350 | L>V | No |
TOPMed gnomAD |
|
| rs150202723 | 355 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs150202723 | 355 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1162455322 | 357 | G>R | No |
TOPMed gnomAD |
|
| rs1373173349 | 358 | D>E | No | gnomAD | |
| rs1304308845 | 359 | K>E | No | gnomAD | |
| rs1364114968 | 360 | E>D | No | gnomAD | |
| rs763304996 | 360 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs763304996 | 360 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs776079197 | 361 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs776079197 | 361 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs776079197 | 361 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs759644147 | 362 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1365585866 | 362 | P>S | No | gnomAD | |
| rs2036452177 | 364 | A>T | No | Ensembl | |
| rs141288204 | 365 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs2036452014 | 366 | G>S | No | TOPMed | |
| rs2036451853 | 367 | E>D | No | TOPMed | |
| rs747972923 | 367 | E>K | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 369 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1258602227 | 370 | E>A | No | gnomAD | |
| rs1312269041 | 373 | I>T | No |
TOPMed gnomAD |
|
| rs1184173429 | 373 | I>V | No | Ensembl | |
| rs779013852 | 374 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1214859105 | 376 | K>E | No |
TOPMed gnomAD |
|
| rs1275653645 | 376 | K>N | No | TOPMed | |
| rs2036451311 | 378 | I>N | No | TOPMed | |
| rs2036451244 | 379 | S>G | No | Ensembl | |
| rs754494273 | 380 | L>V | No |
ExAC gnomAD |
|
| rs2133931319 | 381 | P>L | No | Ensembl | |
| rs932594485 | 382 | I>L | No | TOPMed | |
| rs1315959324 | 383 | L>F | No | gnomAD | |
| rs1564844090 | 385 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs779841429 | 387 | S>T | No |
ExAC gnomAD |
|
| rs755901745 | 388 | N>H | No |
ExAC gnomAD |
|
| rs764308411 | 388 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs764308411 | 388 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs2036450760 | 389 | G>C | No | TOPMed | |
| rs1430150659 | 390 | S>G | No | gnomAD | |
| rs1009485 | 390 | S>I | No | gnomAD | |
| rs117568095 | 391 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs553552960 COSM2060085 COSM3806382 |
392 | V>M | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1448548703 | 393 | G>D | No |
TOPMed gnomAD |
|
| rs2036450147 | 394 | V>A | No | gnomAD | |
|
COSM164313 rs771136503 |
394 | V>I | breast [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs760741994 | 395 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs1264530315 | 396 | D>Y | No | gnomAD | |
| rs574187550 | 398 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1034382171 | 399 | V>D | No |
TOPMed gnomAD |
|
| rs1034382171 | 399 | V>G | No |
TOPMed gnomAD |
|
| rs1321974064 | 399 | V>I | No |
TOPMed gnomAD |
|
| rs2036449901 | 400 | S>C | No | TOPMed | |
| rs1355863959 | 402 | L>P | No |
TOPMed gnomAD |
|
| rs748002576 | 403 | A>V | No |
ExAC gnomAD |
|
| rs1564844047 | 404 | Q>H | No | Ensembl | |
| rs2036449600 | 404 | Q>K | No | Ensembl | |
| TCGA novel | 404 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs919966470 | 405 | G>D | No |
TOPMed gnomAD |
|
| rs1445364525 | 405 | G>R | No |
TOPMed gnomAD |
|
| rs919966470 | 405 | G>V | No |
TOPMed gnomAD |
|
|
COSM3806381 COSM3806380 |
406 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778960704 | 407 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs2036449397 | 408 | A>V | No | TOPMed | |
| rs776005134 | 409 | V>A | No |
TOPMed gnomAD |
|
| rs1234327195 | 409 | V>M | No |
TOPMed gnomAD |
|
| rs768774482 | 411 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs748805333 | 411 | R>S | No |
ExAC gnomAD |
|
| rs779355515 | 412 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs755667357 | 413 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs749994408 | 414 | P>H | No |
ExAC gnomAD |
|
| rs749994408 | 414 | P>L | No |
ExAC gnomAD |
|
| rs758662098 | 416 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs758662098 | 416 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs780930094 | 416 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs753107754 | 418 | Q>H | No |
ExAC gnomAD |
|
| TCGA novel | 418 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760101816 | 420 | S>C | No |
ExAC gnomAD |
|
| rs1360619411 | 420 | S>R | No |
TOPMed gnomAD |
|
| rs779180648 | 421 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs779180648 | 421 | S>Y | No |
ExAC TOPMed gnomAD |
|
|
rs755348691 COSM4725691 COSM4725690 |
422 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs202011870 | 424 | L>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs756112682 | 425 | R>G | No |
ExAC gnomAD |
|
| rs747631325 | 425 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs756112682 | 425 | R>W | No |
ExAC gnomAD |
|
| TCGA novel | 428 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762031781 | 430 | P>T | No |
ExAC gnomAD |
|
|
COSM1225582 COSM4784499 rs370598379 |
431 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs201296459 | 431 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1391573822 | 432 | R>G | No |
TOPMed gnomAD |
|
| TCGA novel | 433 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs142706485 | 433 | E>Q | No |
ESP TOPMed gnomAD |
|
| TCGA novel | 434 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1159748911 | 434 | S>Y | No | gnomAD | |
| rs2036292779 | 438 | F>I | No | gnomAD | |
| rs1477908828 | 439 | Q>H | No | gnomAD | |
| rs1242858651 | 440 | L>M | No | gnomAD | |
| rs201074203 | 442 | K>N | No |
1000Genomes gnomAD |
|
| rs2036292583 | 448 | S>P | No | TOPMed | |
| rs1445350044 | 449 | V>I | No | gnomAD | |
| rs767579345 | 450 | E>V | No |
ExAC TOPMed gnomAD |
|
| rs757439029 | 452 | E>Q | No |
ExAC gnomAD |
|
| COSM3367880 | 455 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2036292411 | 455 | T>S | No | TOPMed | |
| rs948607166 | 457 | A>T | No |
TOPMed gnomAD |
|
| rs2036292337 | 457 | A>V | No | TOPMed | |
| COSM6128099 | 458 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs148490577 | 458 | E>D | No |
ESP TOPMed |
|
|
rs764452321 COSM914436 |
458 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs764452321 | 458 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs762820471 | 461 | S>L | No |
ExAC gnomAD |
|
| rs2036292036 | 463 | I>S | No | Ensembl | |
| rs2036292073 | 463 | I>V | No | Ensembl | |
| rs908565357 | 464 | S>A | No |
TOPMed gnomAD |
|
| rs866309156 | 465 | D>N | No |
TOPMed gnomAD |
|
| rs1336872292 | 465 | D>V | No | gnomAD | |
| rs776445357 | 466 | G>A | No |
ExAC gnomAD |
|
| rs2036291758 | 467 | I>V | No | Ensembl | |
| rs1467494100 | 468 | S>N | No |
TOPMed gnomAD |
|
| rs374221356 | 470 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM1345610 rs374221356 |
470 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1213617503 | 470 | R>W | No |
TOPMed gnomAD |
|
| rs2133914296 | 471 | G>S | No | Ensembl | |
| rs2036291505 | 472 | G>E | No | Ensembl | |
| rs750376276 | 477 | V>F | No | ExAC | |
| rs766966921 | 477 | V>G | No | ExAC | |
| rs2133910110 | 479 | D>H | No | Ensembl | |
| rs2036257527 | 482 | S>A | No | Ensembl | |
| rs1374642845 | 487 | Y>N | No | gnomAD | |
| rs1036074765 | 488 | V>L | No |
TOPMed gnomAD |
|
| rs1036074765 | 488 | V>M | No |
TOPMed gnomAD |
|
| rs941171217 | 491 | G>D | No |
TOPMed gnomAD |
|
| rs1366771506 | 491 | G>S | No | gnomAD | |
| rs199737235 | 492 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs777205961 | 493 | K>E | No |
ExAC gnomAD |
|
| rs1592256340 | 494 | E>A | No | Ensembl | |
| TCGA novel | 496 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs771429951 |
496 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC gnomAD NCI-TCGA |
| rs1592256322 | 497 | A>P | No | Ensembl | |
| rs770908636 | 497 | A>V | No | Ensembl | |
| rs2133909977 | 498 | P>A | No | Ensembl | |
| rs747458165 | 499 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs570018935 | 501 | Y>F | No |
1000Genomes ExAC gnomAD |
|
| rs1564841622 | 502 | I>L | No | Ensembl | |
| rs779173732 | 503 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs1375127496 | 504 | K>T | No |
TOPMed gnomAD |
|
| rs749103006 | 505 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs779769042 | 505 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs779769042 | 505 | R>L | No |
ExAC gnomAD |
|
| rs749103006 | 505 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs755927002 | 509 | N>K | No |
ExAC gnomAD |
|
| rs1592256293 | 509 | N>T | No | Ensembl | |
| rs2036256261 | 511 | S>G | No | TOPMed | |
| rs2036256234 | 511 | S>R | No |
TOPMed gnomAD |
|
| rs2133909886 | 511 | S>T | No | Ensembl | |
|
COSM1293278 rs750321416 |
512 | R>C | cervix Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs767484015 | 512 | R>H | No |
ExAC TOPMed gnomAD |
|
|
COSM272187 rs751092364 |
513 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs763801052 | 513 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1048712396 | 514 | T>K | No | Ensembl | |
| rs775293260 | 515 | S>G | No |
ExAC gnomAD |
|
| rs761148021 | 516 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs931913063 | 518 | T>I | No | TOPMed | |
| rs931913063 | 518 | T>N | No | TOPMed | |
| rs1201268825 | 519 | R>G | No |
TOPMed gnomAD |
|
| rs1431236944 | 519 | R>Q | No | gnomAD | |
| rs1201268825 | 519 | R>W | No |
TOPMed gnomAD |
|
| rs2036255378 | 522 | V>A | No | Ensembl | |
| rs1266161823 | 522 | V>L | No |
TOPMed gnomAD |
|
| rs1266161823 | 522 | V>M | No |
TOPMed gnomAD |
|
| rs773819318 | 524 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1265736101 | 527 | P>A | No | gnomAD | |
| rs917334009 | 527 | P>L | No | TOPMed | |
| rs1265736101 | 527 | P>T | No | gnomAD | |
| COSM270136 | 529 | S>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 529 | S>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774359387 | 532 | K>M | No |
ExAC TOPMed gnomAD |
|
|
rs774359387 COSM323306 |
532 | K>R | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs267602351 | 533 | E>K | No | Ensembl | |
| rs1383030240 | 535 | E>D | No |
TOPMed gnomAD |
|
|
rs1300843206 COSM1345608 |
535 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs956097860 | 537 | G>D | No |
TOPMed gnomAD |
|
| rs1364147478 | 537 | G>S | No | gnomAD | |
| rs1318568970 | 538 | P>R | No | gnomAD | |
| rs1652470637 | 538 | P>T | No | gnomAD | |
| rs975966157 | 539 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs768783739 | 539 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs975966157 | 539 | T>P | No |
TOPMed gnomAD |
|
| rs768783739 | 539 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs780286964 | 541 | A>T | No |
ExAC gnomAD |
|
| rs2036254121 | 542 | S>N | No | Ensembl | |
| rs1193408799 | 542 | S>R | No |
TOPMed gnomAD |
|
| rs965874831 | 544 | S>N | No |
TOPMed gnomAD |
|
| rs2036253957 | 545 | Q>H | No | gnomAD | |
| rs755873630 | 546 | D>N | No |
ExAC TOPMed gnomAD |
|
|
COSM914435 rs367962270 |
548 | P>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs777092853 COSM683466 |
549 | R>Q | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs751523064 | 549 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs376475072 | 550 | K>T | No |
ESP ExAC gnomAD |
|
| rs752354197 | 551 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs2036253549 | 552 | K>N | No | TOPMed | |
| rs2133909536 | 552 | K>Q | No | Ensembl | |
| rs761098740 | 553 | Y>C | No |
ExAC gnomAD |
|
| rs761098740 | 553 | Y>F | No |
ExAC gnomAD |
|
| rs765018486 | 553 | Y>H | No |
ExAC gnomAD |
|
| TCGA novel | 554 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750875523 | 557 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs2036253284 | 557 | E>K | No | TOPMed | |
| rs2036253284 | 557 | E>Q | No | TOPMed | |
|
COSM1178571 rs373020614 |
559 | D>E | prostate [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs1463359085 | 559 | D>N | No | gnomAD | |
| COSM3433884 | 561 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1479477578 | 562 | A>T | No | gnomAD | |
| rs1286877734 | 562 | A>V | No | TOPMed | |
| rs2036252775 | 564 | G>D | No | Ensembl | |
| rs775667785 | 564 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1354330557 | 565 | F>S | No | Ensembl | |
| rs1209359707 | 566 | D>E | No | TOPMed | |
| rs2036252578 | 567 | S>* | No | Ensembl | |
| rs1292750103 | 567 | S>A | No |
TOPMed gnomAD |
|
| rs2133909391 | 569 | P>L | No | Ensembl | |
| rs770063317 | 571 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs140387928 | 572 | S>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs140387928 | 572 | S>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs746869156 | 572 | S>R | No |
ExAC gnomAD |
|
| rs777794207 | 573 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs2036252178 | 575 | P>H | No | gnomAD | |
| rs958928190 | 575 | P>S | No | Ensembl | |
| rs377100440 | 576 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs377100440 | 576 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs2036251986 | 578 | D>Y | No | TOPMed | |
| rs2133909300 | 579 | R>T | No | Ensembl | |
| rs1438039517 | 582 | G>W | No | Ensembl | |
| rs1038678480 | 583 | E>D | No |
TOPMed gnomAD |
|
| rs1368539136 | 583 | E>K | No | gnomAD | |
| rs941256865 | 584 | R>K | No |
TOPMed gnomAD |
|
| rs764711625 | 585 | R>Q | No |
ExAC gnomAD |
|
| rs372858484 | 585 | R>W | No |
ESP ExAC |
|
| rs763008226 | 587 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs2036251565 | 587 | A>V | No | TOPMed | |
| rs1427424381 | 588 | Q>K | No | Ensembl | |
| rs775618751 | 590 | H>P | No |
ExAC gnomAD |
|
| rs759699398 | 591 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs759699398 | 591 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1044167049 | 591 | R>W | No |
TOPMed gnomAD |
|
| rs776936856 | 593 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs143941309 | 594 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1244095931 | 596 | S>F | No |
TOPMed gnomAD |
|
| rs747656273 | 600 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
COSM914433 rs772194389 |
600 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs778498635 | 601 | A>S | No |
ExAC gnomAD |
|
| rs140108315 | 602 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs748853817 | 602 | R>H | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 604 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1253928509 | 604 | K>R | No | TOPMed | |
| rs2036250572 | 605 | V>M | No | Ensembl | |
| rs1564841432 | 606 | G>C | No | Ensembl | |
| rs752019733 | 606 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs1351190759 | 607 | E>* | No | gnomAD | |
| rs1351190759 | 607 | E>K | No | gnomAD | |
| rs2036250380 | 608 | S>C | No | Ensembl | |
| rs764508570 | 610 | E>K | No |
ExAC gnomAD |
|
| rs2036250298 | 612 | V>A | No | Ensembl | |
| rs2036250191 | 613 | A>D | No | Ensembl | |
| rs1159617170 | 615 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2133908949 | 617 | E>D | No | Ensembl | |
| rs2036249880 | 619 | I>V | No | TOPMed | |
| rs1181865196 | 620 | Y>F | No | gnomAD | |
| rs765256036 | 621 | E>K | No |
ExAC gnomAD |
|
| rs1418680379 | 623 | E>D | No | gnomAD | |
| rs759640059 | 626 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs866392337 | 626 | R>W | No | Ensembl | |
| rs1219718561 | 627 | P>L | No | gnomAD | |
| COSM914432 | 627 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2036249579 | 628 | Y>H | No | Ensembl | |
| rs776683814 | 630 | E>K | No | ExAC | |
| rs776683814 | 630 | E>Q | No | ExAC | |
| rs1405548785 | 631 | D>A | No | gnomAD | |
| rs2036249425 | 632 | T>A | No | Ensembl | |
| rs900135284 | 632 | T>I | No | TOPMed | |
| rs2036249310 | 633 | L>P | No | Ensembl | |
| rs1040319628 | 633 | L>V | No |
TOPMed gnomAD |
|
| rs1285096168 | 636 | R>I | No | gnomAD | |
| rs141568792 | 639 | S>F | No |
ESP TOPMed gnomAD |
|
| rs1592256002 | 639 | S>P | No | Ensembl | |
| rs376504935 | 640 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1592255990 | 641 | D>G | No | Ensembl | |
| rs773124770 | 642 | S>N | No |
ExAC gnomAD |
|
| rs145692705 | 643 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2036248864 | 644 | S>F | No | TOPMed | |
| rs201710367 | 644 | S>T | No |
1000Genomes ExAC TOPMed |
|
| rs2036248833 | 646 | G>C | No | gnomAD | |
| rs2036248770 | 647 | S>I | No | TOPMed | |
|
COSM427021 rs748881031 |
649 | S>* | Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs748881031 | 649 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs530029154 | 649 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs748881031 | 649 | S>W | No |
ExAC TOPMed gnomAD |
|
| rs1159095161 | 650 | L>P | No | gnomAD | |
| rs2036247666 | 652 | L>M | No | Ensembl | |
| rs1242521341 | 656 | N>Y | No |
TOPMed gnomAD |
|
| rs2036247514 | 658 | P>S | No | gnomAD | |
| rs1477794207 | 659 | K>I | No |
TOPMed gnomAD |
|
|
VAR_030781 rs11818820 |
659 | K>Q | No |
UniProt Ensembl dbSNP |
|
| TCGA novel | 659 | K>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1477794207 | 659 | K>R | No |
TOPMed gnomAD |
|
| rs1477794207 | 659 | K>T | No |
TOPMed gnomAD |
|
| rs373377492 | 661 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs753165090 | 661 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs765769948 | 663 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs765769948 | 663 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1313704536 | 665 | S>L | No |
TOPMed gnomAD |
|
| rs2036247028 | 665 | S>P | No | TOPMed | |
| rs754002774 | 666 | S>P | No |
ExAC gnomAD |
|
| rs2036246821 | 667 | S>L | No | TOPMed | |
| rs1592255937 | 667 | S>P | No | Ensembl | |
| rs2036246776 | 668 | L>V | No | Ensembl | |
| rs766501746 | 669 | L>P | No |
ExAC gnomAD |
|
| rs2036246635 | 670 | K>R | No | TOPMed | |
| rs1419729334 | 671 | L>F | No |
TOPMed gnomAD |
|
| rs199610107 | 674 | E>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs199610107 | 674 | E>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 674 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773318680 | 676 | N>T | No |
ExAC gnomAD |
|
| rs2133908558 | 681 | M>L | No | Ensembl | |
| rs1320473470 | 682 | G>E | No | gnomAD | |
| rs767370392 | 683 | K>T | No |
ExAC gnomAD |
|
| rs761742438 | 684 | N>T | No |
ExAC gnomAD |
|
| rs1414263919 | 685 | H>Q | No | gnomAD | |
| rs774410030 | 685 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs768772475 | 686 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs1314818700 | 687 | S>L | No | gnomAD | |
| rs1247533067 | 690 | F>L | No | gnomAD | |
| rs368518233 | 691 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs1484164452 | 692 | S>A | No | gnomAD | |
| rs1248707588 | 692 | S>L | No | gnomAD | |
| rs372307133 | 694 | I>T | No | ESP | |
| rs780857190 | 696 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1592255867 | 697 | N>S | No | Ensembl | |
| rs748558870 | 700 | C>Y | No |
ExAC gnomAD |
|
| rs779374922 | 701 | C>F | No |
ExAC gnomAD |
|
| rs779374922 | 701 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs779374922 | 701 | C>Y | No |
ExAC gnomAD |
|
|
rs755571944 COSM3686487 |
702 | S>C | large_intestine [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1362835722 | 703 | S>F | No | Ensembl | |
| rs754305451 | 704 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs754305451 | 704 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs1381889407 | 705 | S>F | No |
TOPMed gnomAD |
|
| rs1381889407 | 705 | S>Y | No |
TOPMed gnomAD |
|
| rs1301618974 | 706 | S>A | No | gnomAD | |
| rs368378897 | 708 | S>F | No |
ESP TOPMed gnomAD |
|
| rs780122955 | 710 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs750632370 | 714 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs761689383 | 715 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs2036244167 | 716 | G>D | No | TOPMed | |
| rs142806486 | 717 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
|
TCGA novel rs2036243873 |
720 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs775317115 | 720 | P>S | No | ExAC | |
| rs769310841 | 721 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs776241188 | 721 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs776241188 | 721 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs776241188 | 721 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs2036243783 | 722 | S>C | No | gnomAD | |
| rs748503679 | 724 | S>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 724 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2036243620 | 725 | D>G | No | Ensembl | |
| COSM3433883 | 725 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs371681573 | 726 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1319459698 | 727 | G>D | No |
TOPMed gnomAD |
|
| rs74788555 | 729 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs756197834 | 729 | R>H | No |
ExAC TOPMed gnomAD |
|
| COSM6128101 | 730 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs757488196 | 730 | G>D | No |
ExAC gnomAD |
|
| rs781560745 | 730 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs781560745 | 730 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs987762902 | 731 | T>I | No | TOPMed | |
| rs2036243104 | 731 | T>P | No | Ensembl | |
| rs2133908084 | 732 | P>A | No | Ensembl | |
| rs751847787 | 732 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs2133908084 | 732 | P>S | No | Ensembl | |
| rs762690039 | 733 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs763904336 | 733 | K>Q | No |
ExAC gnomAD |
|
| rs2133908026 | 736 | A>V | No | Ensembl | |
| rs759030837 | 739 | D>A | No |
ExAC gnomAD |
|
| rs1375558676 | 739 | D>N | No | gnomAD | |
| rs1375558676 | 739 | D>Y | No | gnomAD | |
| rs1267594370 | 740 | A>S | No | gnomAD | |
| rs765874609 | 742 | A>E | No |
ExAC gnomAD |
|
|
COSM5068766 rs765874609 |
742 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs2133907960 | 743 | N>D | No | Ensembl | |
| rs200036703 | 743 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 744 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772872849 | 744 | A>T | No |
ExAC gnomAD |
|
| rs1409401302 | 745 | G>R | No |
TOPMed gnomAD |
|
| rs150357234 | 747 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs776052876 | 748 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs2133907893 | 748 | S>F | No | Ensembl | |
| rs776052876 | 748 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs758091143 | 748 | S>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs370188836 | 749 | C>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs746382788 | 750 | P>A | No |
ExAC gnomAD |
|
| rs746382788 | 750 | P>T | No |
ExAC gnomAD |
|
| rs2036241859 | 751 | R>G | No | gnomAD | |
| rs537290745 | 751 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs537290745 | 751 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2036241859 | 751 | R>W | No | gnomAD | |
| rs937413307 | 752 | A>D | No | gnomAD | |
| rs937413307 | 752 | A>G | No | gnomAD | |
| rs200758401 | 752 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2133907809 | 753 | K>N | No | Ensembl | |
| rs2036241626 | 754 | P>A | No | TOPMed | |
| rs2036241626 | 754 | P>S | No | TOPMed | |
| rs758192955 | 755 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs758192955 | 755 | S>W | No |
ExAC TOPMed gnomAD |
|
| rs1456502400 | 756 | V>I | No | gnomAD | |
| rs140391413 | 757 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs368491495 | 757 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1564841152 | 758 | P>S | No | Ensembl | |
| rs2036241223 | 760 | P>L | No | TOPMed | |
| rs2133907734 | 760 | P>S | No | Ensembl | |
| rs1431043329 | 761 | F>L | No | gnomAD | |
| rs1405737727 | 762 | L>V | No | gnomAD | |
| rs765825254 | 764 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs371640427 | 764 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs151231944 | 765 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs151231944 | 765 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2036240850 | 766 | E>G | No | Ensembl | |
| rs767134244 | 767 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2133907637 | 767 | S>T | No | Ensembl | |
| rs2036240618 | 768 | Q>H | No | TOPMed | |
| rs751083934 | 770 | Q>E | No |
TOPMed gnomAD |
|
| rs1257007198 | 771 | E>A | No | gnomAD | |
| rs1592255665 | 771 | E>K | No | Ensembl | |
| rs1233915900 | 775 | I>V | No |
TOPMed gnomAD |
|
| rs1235921376 | 776 | S>R | No |
TOPMed gnomAD |
|
| rs1310623410 | 778 | L>S | No | gnomAD | |
| rs775652634 | 779 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs775652634 | 779 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
rs866660950 COSM5836182 |
779 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs770297794 | 780 | R>C | No |
ExAC gnomAD |
|
|
rs746331786 COSM1225581 |
780 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs746331786 | 780 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs2133907512 | 781 | Q>* | No | Ensembl | |
| rs1015145135 | 781 | Q>H | No |
TOPMed gnomAD |
|
| rs144157162 | 784 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1043570658 | 785 | T>I | No |
TOPMed gnomAD |
|
| rs140520112 | 787 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2133907437 | 788 | L>P | No | Ensembl | |
| rs200938753 | 789 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs748404899 | 789 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs748404899 | 789 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs549957850 | 790 | G>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs549957850 | 790 | G>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs531825547 | 791 | G>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1753461663 | 791 | G>R | No |
TOPMed gnomAD |
|
| rs531825547 | 791 | G>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs370445275 | 792 | L>H | No |
ESP ExAC TOPMed gnomAD |
|
|
TCGA novel rs766343336 |
792 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
| rs370445275 | 792 | L>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs766343336 | 792 | L>V | No |
ExAC gnomAD |
|
| rs767058255 | 794 | G>V | No |
ExAC gnomAD |
|
| rs199845605 | 795 | S>F | No |
ExAC gnomAD |
|
| rs2133907342 | 795 | S>P | No | Ensembl | |
| rs2133907342 | 795 | S>T | No | Ensembl | |
| rs751249053 | 796 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs147580812 | 797 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
| COSM914430 | 798 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2036239149 | 799 | D>E | No | gnomAD | |
| rs760021106 | 799 | D>N | No |
ExAC gnomAD |
|
| rs564423308 | 800 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes NCI-TCGA TOPMed gnomAD |
| rs765045700 | 800 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs1564841035 | 803 | P>H | No | Ensembl | |
| rs1564841035 | 803 | P>L | No | Ensembl | |
| rs1252421492 | 803 | P>S | No |
TOPMed gnomAD |
|
| rs1252421492 | 803 | P>T | No |
TOPMed gnomAD |
|
| rs200869697 | 804 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs200869697 | 804 | P>R | No |
ExAC TOPMed gnomAD |
|
|
rs2036238715 COSM1265500 |
804 | P>S | oesophagus [Cosmic] | No |
cosmic curated Ensembl |
| rs772204272 | 805 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs772204272 | 805 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs1168220305 | 806 | T>A | No | TOPMed | |
|
COSM116493 rs1167375308 |
806 | T>M | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1168220305 | 806 | T>S | No | TOPMed | |
| TCGA novel | 807 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2036238336 | 809 | E>G | No | Ensembl | |
| rs145150116 | 809 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs368830374 | 810 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 811 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1325420705 | 812 | S>G | No | TOPMed | |
| rs2133907177 | 812 | S>N | No | Ensembl | |
| rs1257317325 | 813 | E>Q | No | gnomAD | |
| rs750389881 | 814 | G>E | No |
ExAC gnomAD |
|
| rs74816343 | 814 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2133907140 | 816 | R>M | No | Ensembl | |
| rs1357216583 | 818 | S>T | No | gnomAD | |
| rs2036237887 | 819 | S>L | No | TOPMed | |
| rs751143465 | 820 | S>C | No |
ExAC gnomAD |
|
| rs1592255514 | 821 | D>A | No | Ensembl | |
|
rs1288697872 COSM4725686 |
821 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1246273846 | 822 | L>F | No |
TOPMed gnomAD |
|
| rs2036237534 | 823 | I>V | No | TOPMed | |
| rs2036237447 | 824 | T>I | No | TOPMed | |
| rs754318200 | 824 | T>P | No |
ExAC gnomAD |
|
| rs766851049 | 825 | L>P | No |
ExAC gnomAD |
|
| rs761026913 | 827 | A>D | No |
ExAC TOPMed gnomAD |
|
| COSM683467 | 827 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2036237300 | 828 | T>P | No | gnomAD | |
| TCGA novel | 831 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773787673 | 831 | P>L | No |
ExAC gnomAD |
|
| rs773787673 | 831 | P>Q | No |
ExAC gnomAD |
|
| rs1456796388 | 832 | C>R | No | gnomAD | |
| rs1456796388 | 832 | C>S | No | gnomAD | |
| rs772003670 | 832 | C>Y | No |
ExAC TOPMed gnomAD |
|
| rs2036237142 | 834 | T>I | No | TOPMed | |
| COSM3806379 | 835 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM683468 | 837 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1183255272 | 839 | E>Q | No | gnomAD | |
| rs1249869892 | 840 | G>A | No |
TOPMed gnomAD |
|
| rs1473782576 | 840 | G>R | No | gnomAD | |
| rs370213162 | 841 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs927397763 | 842 | A>V | No | Ensembl | |
| rs774534870 | 843 | T>A | No |
ExAC gnomAD |
|
|
COSM378942 rs200823844 |
844 | S>L | lung ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1334020584 | 846 | M>L | No |
TOPMed gnomAD |
|
| rs1334020584 | 846 | M>V | No |
TOPMed gnomAD |
|
| rs1268697641 | 847 | T>P | No | gnomAD | |
| rs2036236597 | 848 | C>R | No | TOPMed | |
| rs1383589003 | 848 | C>W | No | TOPMed | |
| COSM6064753 | 849 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764554398 | 850 | A>S | No |
ExAC TOPMed gnomAD |
|
|
COSM1321558 rs764554398 |
850 | A>T | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs781233284 | 851 | Y>C | No |
ExAC gnomAD |
|
| rs756702640 | 853 | K>N | No |
ExAC gnomAD |
|
| rs1564840960 | 854 | V>F | No | Ensembl | |
| rs1564840960 | 854 | V>I | No | Ensembl | |
| rs375509622 | 856 | D>A | No |
ESP ExAC gnomAD |
|
| rs1439522201 | 856 | D>Y | No | gnomAD | |
| rs998693437 | 857 | S>L | No |
TOPMed gnomAD |
|
| rs998693437 | 857 | S>W | No |
TOPMed gnomAD |
|
| rs777567669 | 858 | E>K | No |
ExAC gnomAD |
|
| rs1259530747 | 859 | I>V | No |
TOPMed gnomAD |
|
| rs2036235969 | 860 | S>G | No |
TOPMed gnomAD |
|
| TCGA novel | 862 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750862901 | 863 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs766798828 | 863 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs766798828 | 863 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs750862901 | 863 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2036235738 | 864 | G>D | No | Ensembl | |
| TCGA novel | 865 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs144776136 | 865 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1592255412 | 867 | V>G | No | Ensembl | |
| rs763115087 | 869 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs763115087 | 869 | V>G | No |
ExAC TOPMed gnomAD |
|
| rs1051725499 | 869 | V>M | No |
TOPMed gnomAD |
|
| rs2133906677 | 874 | E>D | No | Ensembl | |
| TCGA novel | 874 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1018712885 | 875 | S>R | No |
TOPMed gnomAD |
|
| rs775722872 | 876 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs2036235114 | 877 | W>C | No | TOPMed | |
| rs1592255399 | 877 | W>G | No | Ensembl | |
| rs1592255398 | 878 | W>G | No | Ensembl | |
| rs769448356 | 879 | Y>D | No |
ExAC gnomAD |
|
| rs769448356 | 879 | Y>H | No |
ExAC gnomAD |
|
| rs371163946 | 880 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1343975196 | 882 | F>I | No |
TOPMed gnomAD |
|
| rs1415409676 | 883 | G>E | No |
TOPMed gnomAD |
|
| rs1318030195 | 883 | G>R | No | gnomAD | |
| rs776424440 | 884 | E>K | No | ExAC | |
| rs2036234533 | 888 | W>* | No | TOPMed | |
| rs1020623940 | 889 | A>T | No |
TOPMed gnomAD |
|
| rs777355965 | 890 | P>L | No |
ExAC gnomAD |
|
| rs2036234381 | 890 | P>S | No | Ensembl | |
| rs1251641633 | 891 | S>P | No | gnomAD | |
| rs893694799 | 893 | Y>C | No |
TOPMed gnomAD |
|
| rs758001725 | 895 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs758001725 | 895 | V>M | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 896 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1276057685 | 897 | D>E | No | gnomAD | |
| rs778746354 | 897 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs1456864379 | 898 | E>G | No |
TOPMed gnomAD |
|
| rs1342229195 | 899 | N>K | No | gnomAD | |
| rs1233166415 | 899 | N>S | No |
TOPMed gnomAD |
|
| rs756410726 | 900 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs756410726 | 900 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1592255323 | 901 | Q>H | No | Ensembl | |
| rs750858104 | 902 | P>R | No |
ExAC gnomAD |
|
| rs1592255312 | 903 | D>A | No | Ensembl | |
| rs540725379 | 903 | D>H | No |
1000Genomes ExAC gnomAD |
|
| rs199832355 | 904 | P>H | No |
1000Genomes ExAC gnomAD |
|
| rs199832355 | 904 | P>L | No |
1000Genomes ExAC gnomAD |
|
| rs199832355 | 904 | P>R | No |
1000Genomes ExAC gnomAD |
|
| rs1361331813 | 904 | P>S | No |
TOPMed gnomAD |
|
| rs775670087 | 906 | G>D | No |
ExAC gnomAD |
|
| rs372246713 | 907 | K>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs2036233189 | 908 | E>G | No | Ensembl | |
| rs1426824183 | 910 | D>E | No | gnomAD | |
| rs770642110 | 913 | P>H | No |
ExAC gnomAD |
|
| rs776423838 | 913 | P>S | No |
ExAC gnomAD |
|
| rs201439736 | 914 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs201439736 | 914 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs907916733 | 915 | K>N | No |
TOPMed gnomAD |
|
| rs969758090 | 916 | G>C | No | gnomAD | |
| COSM271963 | 916 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs969758090 | 916 | G>S | No | gnomAD | |
| rs865812386 | 917 | R>G | No | Ensembl | |
| rs543627417 | 919 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM4011409 | 919 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs371255618 | 920 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs371255618 | 920 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1305961804 | 921 | G>D | No |
TOPMed gnomAD |
|
| rs1305961804 | 921 | G>V | No |
TOPMed gnomAD |
|
| rs4917396 | 922 | K>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1291774298 | 924 | D>H | No | gnomAD | |
| rs1291774298 | 924 | D>Y | No | gnomAD | |
| rs1414555899 | 925 | S>I | No | gnomAD | |
| rs1414555899 | 925 | S>N | No | gnomAD | |
| rs1799844326 | 926 | L>P | No | TOPMed | |
| rs2036232120 | 928 | K>R | No |
TOPMed gnomAD |
|
| rs368480262 | 929 | I>M | No |
1000Genomes ExAC gnomAD |
|
| rs1337306228 | 929 | I>T | No | gnomAD | |
| rs778304934 | 930 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1354047753 | 931 | R>G | No | gnomAD | |
| rs2036231903 | 931 | R>K | No |
TOPMed gnomAD |
|
| TCGA novel | 931 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2036231903 | 931 | R>T | No |
TOPMed gnomAD |
|
| rs866797689 | 932 | R>C | No | TOPMed | |
| rs752844276 | 932 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs201405675 | 933 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs201405675 | 933 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1031587899 | 934 | Q>R | No |
TOPMed gnomAD |
|
| rs999203137 | 936 | L>M | No |
TOPMed gnomAD |
|
|
rs773259897 COSM4725685 |
939 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs773259897 | 939 | V>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 940 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs201840553 | 941 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1223167738 | 942 | S>R | No |
TOPMed gnomAD |
|
| rs1315978128 | 945 | A>D | No |
TOPMed gnomAD |
|
| rs773844696 | 945 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1315978128 | 945 | A>V | No |
TOPMed gnomAD |
|
| rs768074717 | 946 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs768074717 | 946 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1290409624 | 947 | P>L | No | gnomAD | |
| rs1290409624 | 947 | P>R | No | gnomAD | |
| rs867560929 | 948 | P>L | No | Ensembl | |
| rs889168754 | 949 | I>M | No | TOPMed | |
| rs1339935968 | 949 | I>T | No | Ensembl | |
| rs779614766 | 950 | P>T | No |
ExAC gnomAD |
|
| rs987252491 | 953 | P>S | No | Ensembl | |
| rs747434163 | 954 | P>R | No |
ExAC gnomAD |
|
| rs2036230111 | 955 | G>E | No | Ensembl | |
| rs138239379 | 955 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD NCI-TCGA |
| rs138239379 | 955 | G>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs778997216 | 956 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs778997216 | 956 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs142016930 | 958 | G>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1168718265 | 958 | G>D | No |
TOPMed gnomAD |
|
| rs142016930 | 958 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2133905873 | 959 | K>R | No | Ensembl | |
| rs1192369048 | 960 | T>I | No | gnomAD | |
| rs766754098 | 961 | S>L | No |
ExAC gnomAD |
|
| rs1213660252 | 962 | G>D | No | gnomAD | |
| rs750309437 | 963 | T>A | No |
ExAC gnomAD |
|
| rs2036229426 | 963 | T>S | No | TOPMed | |
| rs1372844934 | 964 | P>A | No |
TOPMed gnomAD |
|
| rs767423459 | 965 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs767423459 | 965 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2036229253 | 966 | V>A | No | TOPMed | |
| rs762420881 | 968 | M>L | No |
ExAC gnomAD |
|
| rs775197757 | 969 | R>K | No |
ExAC gnomAD |
|
|
COSM1345607 rs2036229050 |
969 | R>S | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
| rs1034023749 | 971 | G>R | No |
TOPMed gnomAD |
|
| rs2036228940 | 972 | V>A | No |
TOPMed gnomAD |
|
| COSM6064754 | 972 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs745528071 | 973 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs769506617 | 973 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs377387586 | 975 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs377387586 | 975 | V>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs527994174 | 976 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM4011408 rs373805914 |
976 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs2036228502 | 977 | V>A | No | Ensembl | |
| rs2133905695 | 978 | R>S | No | Ensembl | |
| rs1203707949 | 979 | P>H | No |
TOPMed gnomAD |
|
| rs1203707949 | 979 | P>L | No |
TOPMed gnomAD |
|
| rs756338086 | 979 | P>S | No |
ExAC gnomAD |
|
| rs756338086 | 979 | P>T | No |
ExAC gnomAD |
|
| rs1203701944 | 981 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs915654185 | 983 | F>L | No |
TOPMed gnomAD |
|
| rs751492735 | 984 | V>A | No |
ExAC gnomAD |
|
| rs757043804 | 984 | V>L | No |
ExAC gnomAD |
|
| rs757043804 | 984 | V>M | No |
ExAC gnomAD |
|
| rs886507644 | 985 | S>F | No |
TOPMed gnomAD |
|
| rs1592255078 | 985 | S>P | No | Ensembl | |
| rs886507644 | 985 | S>Y | No |
TOPMed gnomAD |
|
| rs763997405 | 986 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1302705445 | 986 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1302705445 | 986 | P>T | No |
TOPMed gnomAD |
|
| rs1196315274 | 988 | P>S | No | Ensembl | |
| rs2036227827 | 989 | K>E | No | Ensembl | |
| rs1427730888 | 989 | K>N | No | Ensembl | |
| rs774799645 | 990 | D>V | No |
ExAC gnomAD |
|
| rs938345700 | 991 | N>D | No | TOPMed | |
| rs764743915 | 992 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs764743915 | 992 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs924301774 | 992 | N>Y | No |
TOPMed gnomAD |
|
| rs968999172 | 994 | S>P | No | TOPMed | |
| rs373175288 | 996 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs146203698 | 998 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs146203698 | 998 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs561745856 | 998 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs749805561 | 999 | R>K | No |
ExAC gnomAD |
|
| rs543566354 | 999 | R>S | No |
1000Genomes ExAC gnomAD |
|
| rs781615764 | 1001 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs781615764 | 1001 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1285159868 | 1002 | S>L | No |
TOPMed gnomAD |
|
| rs757063786 | 1004 | T>M | No |
ExAC TOPMed gnomAD |
|
| COSM3433880 | 1010 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs576268163 | 1010 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| COSM1321559 | 1011 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs75922594 RCV000889911 |
1012 | V>I | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1030401662 | 1013 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs776241091 | 1013 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs776241091 | 1013 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs766002032 | 1014 | R>P | No |
ExAC TOPMed gnomAD |
|
|
COSM287549 rs766002032 |
1014 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1431104402 | 1014 | R>W | No |
TOPMed gnomAD |
|
| rs762231638 | 1016 | S>A | No |
ExAC gnomAD |
|
| rs1461878903 | 1016 | S>Y | No |
TOPMed gnomAD |
|
| rs998038121 | 1017 | S>P | No | gnomAD | |
| rs998038121 | 1017 | S>T | No | gnomAD | |
| rs2036225737 | 1019 | S>N | No | gnomAD | |
| rs769077940 | 1019 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs776180564 | 1020 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs776180564 | 1020 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs746003902 | 1021 | A>G | No |
ExAC gnomAD |
|
| rs746003902 | 1021 | A>V | No |
ExAC gnomAD |
|
|
rs79061932 RCV000893435 |
1022 | R>C | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs79061932 | 1022 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs369836291 | 1022 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs145059341 | 1024 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs145059341 | 1024 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs778867319 | 1026 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs752596549 | 1026 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs778867319 | 1026 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1327560167 | 1027 | E>G | No | gnomAD | |
| rs765916483 | 1027 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1392063287 | 1028 | A>V | No | gnomAD | |
| rs74661743 | 1031 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs553818409 COSM4011407 |
1031 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs553818409 | 1031 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1362282270 | 1033 | A>S | No | gnomAD | |
| rs142382313 | 1033 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs371597796 | 1034 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs760123155 | 1035 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs3781365 | 1035 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3781365 RCV000879617 VAR_030782 |
1035 | R>Q | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs760123155 | 1035 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs148771539 | 1036 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs148771539 | 1036 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs994928529 | 1038 | S>T | No | gnomAD | |
| rs556209599 | 1039 | Q>H | No |
1000Genomes ExAC gnomAD |
|
| rs2036223618 | 1040 | G>S | No | Ensembl | |
| rs1372585961 | 1040 | G>V | No | gnomAD | |
| rs866980537 | 1042 | D>A | No | Ensembl | |
| rs537959543 | 1042 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs374861488 | 1043 | S>P | No |
ESP TOPMed gnomAD |
|
| rs747998608 | 1044 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1319313039 | 1044 | P>S | No | gnomAD | |
| rs778820299 | 1045 | L>V | No |
ExAC gnomAD |
|
| rs1397025949 | 1047 | P>R | No | gnomAD | |
| rs754844848 | 1048 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1248576447 | 1048 | A>V | No | gnomAD | |
| rs779383403 | 1049 | Q>E | No |
ExAC gnomAD |
|
| COSM6064755 | 1049 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs755681659 | 1050 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs368557851 | 1050 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs368557851 | 1050 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs368557851 | 1050 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs2133904881 | 1051 | N>H | No | Ensembl | |
| rs148790099 | 1051 | N>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs148790099 | 1051 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1052 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs866060165 | 1052 | S>R | No | Ensembl | |
| rs4918031 | 1053 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1232932928 | 1054 | P>R | No | gnomAD | |
| rs375554787 | 1055 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs375554787 | 1055 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs770881149 | 1056 | S>F | No |
ExAC gnomAD |
|
| rs1564840562 | 1056 | S>T | No | Ensembl | |
| rs1343844629 | 1058 | V>M | No | gnomAD | |
|
COSM2060035 rs201065560 |
1059 | R>C | pancreas [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs749914163 | 1059 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs772350449 | 1060 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs12765045 | 1061 | K>N | No | Ensembl | |
| rs12765383 | 1062 | P>H | No | Ensembl | |
| rs1390704543 | 1063 | I>V | No | gnomAD | |
| rs774075815 | 1064 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs749185172 | 1065 | K>N | No |
ExAC gnomAD |
|
| TCGA novel | 1066 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs139773955 | 1067 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs375843443 | 1069 | I>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs375843443 | 1069 | I>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs375843443 | 1069 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs765653843 | 1070 | H>L | No |
ExAC TOPMed gnomAD |
|
|
rs2036221366 COSM1739627 |
1071 | N>S | NS [Cosmic] | No |
cosmic curated Ensembl |
| rs1274287791 | 1072 | N>D | No | gnomAD | |
|
VAR_056993 rs12764700 |
1073 | L>P | No |
UniProt Ensembl dbSNP |
|
| rs2133904636 | 1074 | K>Q | No | Ensembl | |
| rs1449645836 | 1077 | Y>C | No | gnomAD | |
| TCGA novel | 1077 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs561681082 | 1078 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1316784618 | 1079 | S>C | No | gnomAD | |
| rs1224789654 | 1081 | A>S | No |
TOPMed gnomAD |
|
|
COSM914428 rs1224789654 |
1081 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs201558536 | 1084 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs201558536 | 1084 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs2036220716 | 1085 | G>E | No | TOPMed | |
| rs376965715 | 1087 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs2036220535 | 1090 | A>G | No | gnomAD | |
| TCGA novel | 1090 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2036220535 | 1090 | A>V | No | gnomAD | |
| rs1320629210 | 1091 | G>S | No |
TOPMed gnomAD |
|
| rs1172645567 | 1093 | Q>R | No |
TOPMed gnomAD |
|
| rs767600514 | 1094 | E>D | No |
ExAC gnomAD |
|
| rs2036220282 | 1095 | G>A | No | TOPMed | |
| rs761976124 | 1095 | G>R | No |
ExAC gnomAD |
|
| COSM1345606 | 1096 | V>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1592254725 | 1096 | V>G | No | Ensembl | |
| rs980387372 | 1096 | V>L | No | TOPMed | |
| rs902920852 | 1098 | M>V | No | TOPMed | |
| rs149361354 | 1099 | E>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2133904457 | 1100 | V>L | No | Ensembl | |
| rs1483084884 | 1106 | N>S | No | gnomAD | |
| rs745804582 | 1109 | W>G | No |
ExAC gnomAD |
|
| rs780798156 | 1110 | Y>D | No |
ExAC gnomAD |
|
| rs756855521 | 1110 | Y>F | No | ExAC | |
| COSM4011406 | 1110 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs746626117 | 1112 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs1306202356 | 1112 | Q>L | No | gnomAD | |
| rs777612981 | 1113 | I>F | No |
ExAC gnomAD |
|
| rs1186898754 | 1115 | D>G | No | gnomAD | |
| rs754299114 | 1116 | G>S | No |
ExAC gnomAD |
|
| COSM914427 | 1119 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1468192546 | 1119 | P>S | No | TOPMed | |
| TCGA novel | 1120 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2036219018 | 1121 | K>I | No | Ensembl | |
| TCGA novel | 1123 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1592254668 | 1124 | V>G | No | Ensembl | |
| rs1291642030 | 1126 | S>F | No | gnomAD | |
| rs951329846 | 1127 | N>S | No |
TOPMed gnomAD |
|
| rs951329846 | 1127 | N>T | No |
TOPMed gnomAD |
|
| rs1592254661 | 1130 | E>G | No | Ensembl | |
| rs1592254660 | 1132 | K>R | No | Ensembl | |
| rs2036218587 | 1133 | N>S | No | Ensembl |
No associated diseases with Q5TCZ1
12 regional properties for Q5TCZ1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SH3 domain | 166 - 225 | IPR001452-1 |
| domain | SH3 domain | 266 - 325 | IPR001452-2 |
| domain | SH3 domain | 448 - 507 | IPR001452-3 |
| domain | SH3 domain | 840 - 899 | IPR001452-4 |
| domain | SH3 domain | 1072 - 1133 | IPR001452-5 |
| domain | Phox homology | 3 - 128 | IPR001683 |
| domain | SH3PXD2A, SH3 domain 3 | 451 - 504 | IPR035449 |
| domain | SH3PXD2A, SH3 domain 1 | 170 - 222 | IPR035450 |
| domain | SH3PXD2A, SH3 domain 2 | 269 - 322 | IPR035452 |
| domain | SH3PXD2A, SH3 domain 4 | 844 - 896 | IPR035453 |
| domain | SH3PXD2A, SH3 domain 5 | 1076 - 1132 | IPR035454 |
| domain | SH3PXD2, PX domain | 6 - 124 | IPR037961 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| podosome | An actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell, contain an F-actin-rich core surrounded by a ring structure containing proteins such as vinculin and talin, and have a diameter of 0.5 mm. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidylinositol-3,4-bisphosphate binding | Binding to phosphatidylinositol-3,4-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' and 4' positions. |
| phosphatidylinositol-3-phosphate binding | Binding to phosphatidylinositol-3-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' position. |
| phosphatidylinositol-4,5-bisphosphate binding | Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions. |
| phosphatidylinositol-4-phosphate binding | Binding to phosphatidylinositol-4-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' position. |
| phosphatidylinositol-5-phosphate binding | Binding to phosphatidylinositol-5-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 5' position. |
| protease binding | Binding to a protease or a peptidase. |
| superoxide-generating NADPH oxidase activator activity | Binds to and increases the activity of the enzyme superoxide-generating NADPH oxidase. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| osteoclast fusion | The plasma membrane fusion process that results in fusion of mononuclear osteoclasts to form a multinuclear osteoclast. |
| superoxide anion generation | The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways. |
| superoxide metabolic process | The chemical reactions and pathways involving superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O00443 | PIK3C2A | Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha | Homo sapiens (Human) | PR |
| P14598 | NCF1 | Neutrophil cytosol factor 1 | Homo sapiens (Human) | EV |
| A1X283 | SH3PXD2B | SH3 and PX domain-containing protein 2B | Homo sapiens (Human) | EV |
| A6NI72 | NCF1B | Putative neutrophil cytosol factor 1B | Homo sapiens (Human) | SS |
| A8MVU1 | NCF1C | Putative neutrophil cytosol factor 1C | Homo sapiens (Human) | SS |
| Q61194 | Pik3c2a | Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha | Mus musculus (Mouse) | PR |
| A2AAY5 | Sh3pxd2b | SH3 and PX domain-containing protein 2B | Mus musculus (Mouse) | SS |
| O89032 | Sh3pxd2a | SH3 and PX domain-containing protein 2A | Mus musculus (Mouse) | SS |
| F1M707 | Ncf1 | Neutrophil cytosolic factor 1 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLAYCVQDAT | VVDVEKRRNP | SKHYVYIINV | TWSDSTSQTI | YRRYSKFFDL | QMQLLDKFPI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EGGQKDPKQR | IIPFLPGKIL | FRRSHIRDVA | VKRLKPIDEY | CRALVRLPPH | ISQCDEVFRF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FEARPEDVNP | PKEDYGSSKR | KSVWLSSWAE | SPKKDVTGAD | ATAEPMILEQ | YVVVSNYKKQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ENSELSLQAG | EVVDVIEKNE | SGWWFVSTSE | EQGWVPATYL | EAQNGTRDDS | DINTSKTGEV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SKRRKAHLRR | LDRRWTLGGM | VNRQHSREEK | YVTVQPYTSQ | SKDEIGFEKG | VTVEVIRKNL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EGWWYIRYLG | KEGWAPASYL | KKAKDDLPTR | KKNLAGPVEI | IGNIMEISNL | LNKKASGDKE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TPPAEGEGHE | APIAKKEISL | PILCNASNGS | AVGVPDRTVS | RLAQGSPAVA | RIAPQRAQIS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SPNLRTRPPP | RRESSLGFQL | PKPPEPPSVE | VEYYTIAEFQ | SCISDGISFR | GGQKAEVIDK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NSGGWWYVQI | GEKEGWAPAS | YIDKRKKPNL | SRRTSTLTRP | KVPPPAPPSK | PKEAEEGPTG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ASESQDSPRK | LKYEEPEYDI | PAFGFDSEPE | LSEEPVEDRA | SGERRPAQPH | RPSPASSLQR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ARFKVGESSE | DVALEEETIY | ENEGFRPYAE | DTLSARGSSG | DSDSPGSSSL | SLTRKNSPKS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GSPKSSSLLK | LKAEKNAQAE | MGKNHSSASF | SSSITINTTC | CSSSSSSSSS | LSKTSGDLKP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RSASDAGIRG | TPKVRAKKDA | DANAGLTSCP | RAKPSVRPKP | FLNRAESQSQ | EKMDISTLRR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| QLRPTGQLRG | GLKGSKSEDS | ELPPQTASEA | PSEGSRRSSS | DLITLPATTP | PCPTKKEWEG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| PATSYMTCSA | YQKVQDSEIS | FPAGVEVQVL | EKQESGWWYV | RFGELEGWAP | SHYLVLDENE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| QPDPSGKELD | TVPAKGRQNE | GKSDSLEKIE | RRVQALNTVN | QSKKATPPIP | SKPPGGFGKT |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SGTPAVKMRN | GVRQVAVRPQ | SVFVSPPPKD | NNLSCALRRN | ESLTATDGLR | GVRRNSSFST |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| ARSAAAEAKG | RLAERAASQG | SDSPLLPAQR | NSIPVSPVRP | KPIEKSQFIH | NNLKDVYVSI |
| 1090 | 1100 | 1110 | 1120 | 1130 | |
| ADYEGDEETA | GFQEGVSMEV | LERNPNGWWY | CQILDGVKPF | KGWVPSNYLE | KKN |