Q9Y2K3
Gene name |
MYH15 (KIAA1000) |
Protein name |
Myosin-15 |
Names |
Myosin heavy chain 15 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:22989 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
97-791 (Myosin head, motor domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

1 structures for Q9Y2K3
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q9Y2K3-F1 | Predicted | AlphaFoldDB |
2235 variants for Q9Y2K3
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
COSM258946 rs763213333 |
1 | M>? | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
rs1268774454 | 2 | D>A | No | gnomAD | |
rs1268774454 | 2 | D>G | No | gnomAD | |
rs779875755 | 2 | D>Y | No |
ExAC TOPMed gnomAD |
|
rs375887587 | 4 | S>L | No |
ESP ExAC TOPMed gnomAD |
|
rs745482063 | 5 | D>G | No |
ExAC gnomAD |
|
rs1328037293 | 6 | L>V | No |
TOPMed gnomAD |
|
rs1265772667 | 7 | G>R | No |
TOPMed gnomAD |
|
rs200229973 | 8 | E>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 8 | E>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs547047848 | 10 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs547047848 | 10 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs372618528 | 11 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
rs2107253060 | 11 | A>S | No | Ensembl | |
rs372618528 | 11 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 13 | L>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1417634 | 13 | L>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1417633 rs752868848 |
14 | R>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
rs752868848 | 14 | R>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1369477159 | 18 | A>V | No |
TOPMed gnomAD |
|
rs765552964 | 23 | L>R | No |
ExAC TOPMed gnomAD |
|
rs201499449 | 24 | Q>* | No |
ExAC TOPMed gnomAD |
|
rs201499449 | 24 | Q>E | No |
ExAC TOPMed gnomAD |
|
rs1266423157 | 27 | A>S | No |
TOPMed gnomAD |
|
rs2083513330 TCGA novel |
28 | L>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs1212210978 | 29 | D>G | No | Ensembl | |
COSM727396 rs372618528 |
31 | K>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs767676639 | 32 | K>R | No |
ExAC gnomAD |
|
rs763034162 | 34 | C>S | No |
ExAC gnomAD |
|
rs554464644 | 35 | W>C | No |
1000Genomes ExAC gnomAD |
|
rs776364938 | 37 | P>S | No |
ExAC gnomAD |
|
rs1227527331 | 38 | D>Y | No | gnomAD | |
TCGA novel | 39 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs746631219 | 39 | G>S | No |
ExAC gnomAD |
|
rs1373537363 | 41 | N>K | No | Ensembl | |
rs2083471487 | 41 | N>S | No | TOPMed | |
rs2083471487 | 41 | N>T | No | TOPMed | |
rs771555483 | 42 | A>S | No |
ExAC TOPMed gnomAD |
|
rs771555483 | 42 | A>T | No |
ExAC TOPMed gnomAD |
|
rs201795160 | 42 | A>V | No |
ExAC gnomAD |
|
rs779220108 | 43 | Y>C | No | ExAC | |
rs2083471360 | 43 | Y>D | No | Ensembl | |
rs749567907 | 44 | I>T | No |
ExAC gnomAD |
|
rs1397838449 | 44 | I>V | No | gnomAD | |
rs963614768 | 45 | E>K | No | gnomAD | |
rs756446624 | 46 | A>V | No |
ExAC gnomAD |
|
rs2083471159 | 47 | E>D | No |
TOPMed gnomAD |
|
rs1277790387 | 47 | E>G | No | gnomAD | |
rs1436986544 | 47 | E>Q | No | gnomAD | |
rs533310183 | 47 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1475560357 | 49 | K>* | No | gnomAD | |
rs1184896197 | 49 | K>N | No | gnomAD | |
rs1367506163 | 49 | K>R | No | gnomAD | |
TCGA novel | 50 | G>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
rs2083471058 | 50 | G>R | No | TOPMed | |
rs2083471015 | 51 | S>N | No | Ensembl | |
rs757410583 | 53 | D>G | No |
ExAC TOPMed gnomAD |
|
rs1553773459 | 54 | D>N | No | Ensembl | |
COSM3584996 rs765150954 |
55 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs2083470824 | 55 | G>A | No | TOPMed | |
rs2083470824 | 55 | G>E | No | TOPMed | |
rs759403724 | 56 | T>A | No |
ExAC TOPMed gnomAD |
|
rs2083470711 | 57 | V>A | No | Ensembl | |
rs766172799 | 58 | I>T | No |
ExAC gnomAD |
|
rs1207699249 | 60 | E>Q | No |
TOPMed gnomAD |
|
rs1576274142 | 61 | T>A | No | Ensembl | |
rs760375675 | 62 | A>T | No |
ExAC gnomAD |
|
rs2107244916 COSM3845758 |
65 | E>K | breast [Cosmic] | No |
cosmic curated Ensembl |
rs1436986544 COSM4846024 |
67 | L>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
rs768192824 | 67 | L>P | No |
ExAC TOPMed gnomAD |
|
rs1380179641 | 67 | L>V | No | TOPMed | |
COSM727399 | 68 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1413483447 | 69 | I>L | No |
TOPMed gnomAD |
|
rs2083441137 | 69 | I>M | No | gnomAD | |
rs1159084370 | 69 | I>T | No |
TOPMed gnomAD |
|
rs1413483447 | 69 | I>V | No |
TOPMed gnomAD |
|
rs750652915 | 70 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
TCGA novel | 72 | D>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1390010884 | 72 | D>V | No | gnomAD | |
rs1244827853 | 73 | K>E | No | gnomAD | |
rs1200690630 | 75 | Q>H | No | gnomAD | |
rs762283092 | 77 | M>K | No | Ensembl | |
rs770289708 | 77 | M>L | No |
ExAC gnomAD |
|
rs770289708 | 77 | M>V | No |
ExAC gnomAD |
|
rs2083440952 | 78 | N>H | No | TOPMed | |
rs1324781823 | 80 | P>A | No | TOPMed | |
rs1207012043 | 82 | F>C | No | gnomAD | |
rs1207012043 | 82 | F>S | No | gnomAD | |
rs1448671335 | 83 | E>G | No | Ensembl | |
rs1331326244 | 83 | E>Q | No |
TOPMed gnomAD |
|
rs1219219123 | 84 | M>T | No | gnomAD | |
rs987157021 | 85 | I>T | No | TOPMed | |
rs777019977 | 87 | D>N | No |
ExAC gnomAD |
|
rs967028556 | 88 | M>T | No | Ensembl | |
rs754882550 | 89 | A>S | No |
TOPMed gnomAD |
|
rs754882550 | 89 | A>T | No |
TOPMed gnomAD |
|
rs1020830997 | 89 | A>V | No |
TOPMed gnomAD |
|
COSM1036067 | 91 | L>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs776063061 COSM4896804 |
92 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs2083440527 | 92 | T>S | No | Ensembl | |
TCGA novel | 93 | H>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2083440503 | 93 | H>Y | No | Ensembl | |
rs528646816 | 95 | N>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs528646816 | 95 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs528646816 | 95 | N>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1413875702 | 97 | A>S | No | gnomAD | |
rs1413875702 | 97 | A>T | No | gnomAD | |
rs758497842 | 98 | S>C | No |
ExAC gnomAD |
|
rs200749942 | 99 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
rs201256099 | 100 | L>M | No |
1000Genomes ExAC gnomAD |
|
rs750178279 | 101 | H>N | No |
ExAC gnomAD |
|
rs2083440199 | 101 | H>P | No | TOPMed | |
rs367847435 | 102 | T>I | No |
ESP ExAC gnomAD |
|
rs367847435 | 102 | T>N | No |
ESP ExAC gnomAD |
|
rs1331326244 | 103 | L>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs751212371 | 103 | L>V | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 104 | K>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs762460620 | 105 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs755793931 | 105 | R>W | No |
ExAC TOPMed gnomAD |
|
rs1343488441 COSM4850103 |
106 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs765794873 | 108 | G>S | No |
ExAC TOPMed gnomAD |
|
rs1437607819 | 108 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs2083440017 | 109 | Q>R | No | TOPMed | |
rs2083439963 | 111 | M>I | No | TOPMed | |
rs139026854 | 112 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs777181444 | 113 | Y>C | No |
ExAC gnomAD |
|
rs777181444 | 113 | Y>F | No |
ExAC gnomAD |
|
rs1366873692 | 113 | Y>H | No | gnomAD | |
rs1168730539 | 116 | S>A | No |
TOPMed gnomAD |
|
rs777269595 | 117 | G>D | No |
ExAC gnomAD |
|
COSM3584995 | 118 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1430095884 | 120 | C>G | No |
TOPMed gnomAD |
|
rs761040479 | 120 | C>Y | No |
ExAC TOPMed gnomAD |
|
rs773327072 | 121 | V>M | No |
1000Genomes ExAC |
|
rs761909691 | 124 | N>H | No |
ExAC TOPMed gnomAD |
|
rs774463469 | 125 | P>A | No |
ExAC gnomAD |
|
rs768709718 | 125 | P>L | No |
ExAC gnomAD |
|
rs774463469 | 125 | P>T | No |
ExAC gnomAD |
|
rs2083425746 | 126 | Y>* | No | Ensembl | |
rs2083425765 | 126 | Y>C | No | TOPMed | |
rs1281379382 | 126 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs749863386 | 126 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs2083425793 | 126 | Y>H | No | TOPMed | |
rs1265168755 | 127 | K>R | No | gnomAD | |
rs745873630 | 128 | W>* | No |
ExAC gnomAD |
|
rs745873630 | 128 | W>C | No |
ExAC gnomAD |
|
COSM3914484 | 130 | P>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1319548603 | 130 | P>A | No | gnomAD | |
rs1319548603 | 130 | P>S | No | gnomAD | |
rs770648126 | 131 | V>M | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 131 | V>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1286416318 | 133 | Q>* | No | gnomAD | |
rs746772108 | 135 | E>G | No |
ExAC gnomAD |
|
rs777325938 | 136 | V>I | No |
ExAC gnomAD |
|
COSM3584994 | 136 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2107236371 | 137 | M>V | No | Ensembl | |
rs758114957 | 138 | A>P | No |
ExAC gnomAD |
|
rs182324086 | 139 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs182324086 | 139 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1165863212 | 140 | Y>C | No |
TOPMed gnomAD |
|
rs2083425445 | 140 | Y>N | No | Ensembl | |
rs1456806753 | 141 | K>E | No | gnomAD | |
rs1409763026 | 142 | G>A | No | gnomAD | |
rs754408180 | 143 | K>* | No |
ExAC TOPMed gnomAD |
|
rs760976748 | 144 | R>S | No |
ExAC TOPMed gnomAD |
|
rs750839847 | 145 | R>* | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 146 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs917834045 | 146 | S>L | No | TOPMed | |
rs1254520657 | 147 | E>A | No | gnomAD | |
rs1213888673 | 148 | A>T | No | gnomAD | |
rs190819544 | 148 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs565193489 | 149 | P>S | No |
1000Genomes ExAC gnomAD |
|
rs1486679929 | 150 | P>A | No | TOPMed | |
rs768729797 | 150 | P>R | No |
ExAC gnomAD |
|
rs1486679929 | 150 | P>S | No | TOPMed | |
rs1317408466 | 151 | H>P | No |
TOPMed gnomAD |
|
rs762965361 | 151 | H>Q | No |
ExAC gnomAD |
|
rs1317408466 | 151 | H>R | No |
TOPMed gnomAD |
|
rs2083424963 | 151 | H>Y | No | Ensembl | |
rs1205321702 | 152 | I>T | No |
TOPMed gnomAD |
|
rs776574998 | 152 | I>V | No |
ExAC gnomAD |
|
rs1463337088 | 156 | A>D | No |
TOPMed gnomAD |
|
rs2083424809 | 156 | A>P | No | TOPMed | |
rs1463337088 | 156 | A>V | No |
TOPMed gnomAD |
|
rs201879926 | 157 | N>S | No |
ESP TOPMed gnomAD |
|
rs777677674 | 159 | A>G | No |
ExAC gnomAD |
|
rs1165863212 | 160 | F>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1003278469 | 161 | Q>* | No |
TOPMed gnomAD |
|
rs1003278469 | 161 | Q>E | No |
TOPMed gnomAD |
|
rs376723541 | 161 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
rs866505881 | 161 | Q>R | No | Ensembl | |
COSM4899668 | 162 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs904975916 | 162 | D>G | No | gnomAD | |
rs1560432598 COSM3584992 |
162 | D>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs1365579579 | 163 | M>K | No | TOPMed | |
COSM6095824 | 163 | M>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1365579579 | 163 | M>R | No | TOPMed | |
rs1365579579 | 163 | M>T | No | TOPMed | |
rs1377538303 | 163 | M>V | No |
TOPMed gnomAD |
|
rs767751424 COSM3584991 |
165 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs1174518267 | 166 | N>D | No |
TOPMed gnomAD |
|
rs779673886 | 167 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs1216764436 | 170 | Q>H | No | Ensembl | |
rs755576266 | 170 | Q>K | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 170 | Q>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 171 | S>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1253334242 | 171 | S>T | No |
TOPMed gnomAD |
|
rs746391808 | 172 | I>V | No |
ExAC gnomAD |
|
rs781496642 | 173 | L>H | No |
ExAC TOPMed gnomAD |
|
rs781496642 | 173 | L>P | No |
ExAC TOPMed gnomAD |
|
rs781496642 | 173 | L>R | No |
ExAC TOPMed gnomAD |
|
rs202126707 | 175 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1162545774 | 177 | E>D | No |
TOPMed gnomAD |
|
rs1576270517 | 177 | E>G | No | Ensembl | |
rs2083408342 | 177 | E>Q | No | TOPMed | |
rs2083408251 | 179 | G>D | No | TOPMed | |
COSM3695737 rs200291167 |
179 | G>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs2083408251 | 179 | G>V | No | TOPMed | |
rs2083408230 | 180 | A>T | No | Ensembl | |
rs554365103 | 181 | G>A | No |
1000Genomes ExAC gnomAD |
|
rs2083408156 | 182 | K>E | No | TOPMed | |
rs757788759 | 182 | K>N | No |
ExAC gnomAD |
|
rs1182942294 | 182 | K>R | No |
TOPMed gnomAD |
|
rs747461461 | 183 | T>N | No |
ExAC TOPMed gnomAD |
|
rs747461461 | 183 | T>S | No |
ExAC TOPMed gnomAD |
|
rs1308704175 | 184 | V>A | No | TOPMed | |
rs1408203040 | 186 | S>G | No | TOPMed | |
rs758761125 | 186 | S>R | No |
ExAC gnomAD |
|
rs748925913 COSM1308363 |
187 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
COSM5423421 | 187 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs545571474 | 188 | H>P | No |
TOPMed gnomAD |
|
rs545571474 | 188 | H>R | No |
TOPMed gnomAD |
|
rs755127410 | 189 | I>F | No |
ExAC TOPMed gnomAD |
|
rs753897625 | 190 | I>V | No |
ExAC gnomAD |
|
rs1230048689 | 191 | Q>* | No |
TOPMed gnomAD |
|
rs2107232948 | 191 | Q>R | No | Ensembl | |
rs1576270462 | 192 | Y>F | No | Ensembl | |
rs374454873 | 192 | Y>H | No |
ESP TOPMed gnomAD |
|
rs2083407562 | 193 | F>I | No | Ensembl | |
rs1267567924 | 194 | A>D | No |
TOPMed gnomAD |
|
rs766518957 | 196 | I>K | No |
ExAC gnomAD |
|
rs766518957 | 196 | I>T | No |
ExAC gnomAD |
|
rs1353429791 | 196 | I>V | No |
TOPMed gnomAD |
|
rs2083407382 | 197 | A>G | No | Ensembl | |
rs963971875 | 197 | A>T | No |
TOPMed gnomAD |
|
rs1233013473 | 198 | A>T | No | gnomAD | |
rs751475198 | 199 | M>T | No | ExAC | |
rs761855234 | 199 | M>V | No |
ExAC TOPMed gnomAD |
|
rs1323487444 | 200 | I>S | No |
TOPMed gnomAD |
|
rs1323487444 | 200 | I>T | No |
TOPMed gnomAD |
|
rs2083407006 | 201 | E>K | No | Ensembl | |
rs923453724 | 203 | R>T | No | Ensembl | |
rs764045947 | 205 | K>T | No |
ExAC TOPMed gnomAD |
|
rs201549171 | 206 | Q>* | No |
ESP ExAC TOPMed gnomAD |
|
rs2107232820 | 206 | Q>P | No | Ensembl | |
rs751604307 | 208 | A>S | No |
ExAC TOPMed gnomAD |
|
rs751604307 | 208 | A>T | No |
ExAC TOPMed gnomAD |
|
rs374854107 | 208 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
rs2107229090 | 210 | E>D | No | Ensembl | |
COSM3974066 rs1468974093 |
210 | E>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs765030360 | 211 | D>N | No |
ExAC TOPMed gnomAD |
|
rs558881421 | 212 | Q>P | No |
1000Genomes ExAC gnomAD |
|
rs2083385666 | 214 | M>V | No | TOPMed | |
rs1034067952 | 215 | Q>* | No | gnomAD | |
COSM2916945 | 215 | Q>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1034067952 | 215 | Q>E | No | gnomAD | |
rs776196034 | 215 | Q>L | No |
ExAC gnomAD |
|
rs773751137 | 218 | T>A | No |
ExAC TOPMed gnomAD |
|
rs1271852010 | 219 | I>T | No | gnomAD | |
rs772489004 | 220 | L>W | No |
ExAC TOPMed gnomAD |
|
rs2083385390 | 221 | E>* | No | Ensembl | |
COSM3914483 | 222 | A>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1435136450 | 223 | F>L | No | gnomAD | |
rs779160426 | 223 | F>L | No |
ExAC TOPMed gnomAD |
|
rs768998401 | 223 | F>S | No |
ExAC TOPMed gnomAD |
|
rs2083385265 | 224 | G>R | No | TOPMed | |
rs1369645677 | 225 | N>S | No |
TOPMed gnomAD |
|
rs1025290016 | 226 | A>T | No | Ensembl | |
rs545411477 | 227 | K>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs780409842 | 231 | N>D | No |
ExAC TOPMed gnomAD |
|
rs186710312 | 232 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs745909802 | 233 | N>S | No |
ExAC TOPMed gnomAD |
|
rs1019950988 | 235 | S>P | No | Ensembl | |
rs374667460 | 236 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
rs374667460 | 236 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
rs201981854 | 236 | R>H | No |
1000Genomes ESP TOPMed gnomAD |
|
rs374667460 | 236 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
rs770490422 | 236 | R>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs2090697640 | 239 | K>T | No | Ensembl | |
COSM1417631 | 239 | K>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2083366604 | 240 | F>I | No | TOPMed | |
rs2083366570 | 241 | I>L | No | TOPMed | |
rs770170822 | 241 | I>S | No |
ExAC gnomAD |
|
rs770170822 | 241 | I>T | No |
ExAC gnomAD |
|
rs1466767125 | 242 | R>G | No |
TOPMed gnomAD |
|
rs1321910681 | 243 | M>L | No | gnomAD | |
rs746036501 | 243 | M>T | No |
ExAC TOPMed gnomAD |
|
rs1233864195 | 244 | H>Y | No |
TOPMed gnomAD |
|
rs372476083 | 247 | A>T | No | Ensembl | |
rs1225267690 | 249 | G>D | No |
TOPMed gnomAD |
|
rs2083366180 | 249 | G>S | No | TOPMed | |
TCGA novel | 250 | M>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1424556338 | 252 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs748097818 | 252 | S>L | No |
ExAC TOPMed gnomAD |
|
rs2107600013 | 253 | S>F | No | Ensembl | |
rs1438960893 | 253 | S>P | No | gnomAD | |
rs781378758 COSM3914482 |
254 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs754811850 | 254 | V>L | No | ExAC | |
TCGA novel | 254 | V>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs199543416 | 256 | I>T | No |
ExAC TOPMed gnomAD |
|
rs766115701 | 257 | D>Y | No |
ExAC gnomAD |
|
rs755777461 | 258 | I>T | No |
ExAC gnomAD |
|
rs750011997 | 259 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs2083359582 | 259 | Y>S | No | gnomAD | |
rs777677211 | 260 | L>F | No |
ExAC gnomAD |
|
rs1375006787 | 262 | E>K | No | TOPMed | |
rs779830624 | 263 | K>N | No |
ExAC TOPMed gnomAD |
|
rs1394841983 | 264 | S>F | No | TOPMed | |
rs2083359293 | 265 | R>G | No | TOPMed | |
rs750102040 | 265 | R>K | No |
ExAC gnomAD |
|
rs374694357 | 266 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
rs756757735 | 267 | I>F | No |
ExAC TOPMed gnomAD |
|
rs751110103 | 268 | F>L | No |
ExAC gnomAD |
|
rs1053126426 | 269 | Q>* | No | Ensembl | |
rs374250280 | 269 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1391852990 | 270 | Q>H | No |
TOPMed gnomAD |
|
rs763565180 | 271 | A>T | No |
ExAC gnomAD |
|
rs765759935 | 272 | G>A | No |
ExAC gnomAD |
|
rs765759935 | 272 | G>E | No |
ExAC gnomAD |
|
rs2083358827 | 272 | G>R | No | TOPMed | |
rs1355367769 | 273 | E>G | No | gnomAD | |
rs1417012167 | 276 | Y>N | No | gnomAD | |
COSM283022 | 278 | I>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs751145789 | 278 | I>L | No |
ExAC TOPMed gnomAD |
|
rs1039673975 | 278 | I>M | No |
TOPMed gnomAD |
|
rs751145789 | 278 | I>V | No |
ExAC TOPMed gnomAD |
|
COSM1036066 | 281 | Q>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2083358401 | 283 | L>P | No | gnomAD | |
rs760762410 | 284 | S>C | No |
ExAC gnomAD |
|
rs760762410 | 284 | S>Y | No |
ExAC gnomAD |
|
rs773358183 | 285 | G>* | No |
ExAC gnomAD |
|
rs749291407 | 286 | Q>H | No |
ExAC gnomAD |
|
rs772074722 | 286 | Q>P | No |
ExAC TOPMed gnomAD |
|
rs779955020 | 288 | E>G | No |
ExAC TOPMed gnomAD |
|
rs769624537 | 289 | L>V | No |
ExAC gnomAD |
|
rs2083357993 | 290 | H>Q | No |
TOPMed gnomAD |
|
rs1212739368 | 290 | H>R | No |
TOPMed gnomAD |
|
rs2083307546 | 291 | D>E | No | TOPMed | |
rs2107596418 | 292 | L>M | No | Ensembl | |
rs2083307490 | 294 | L>P | No | gnomAD | |
rs775445184 | 295 | V>G | No |
ExAC gnomAD |
|
rs2083307432 | 296 | S>F | No | TOPMed | |
rs577166845 | 298 | N>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs577166845 | 298 | N>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1226269302 | 299 | P>A | No | gnomAD | |
rs1279629198 | 299 | P>L | No | TOPMed | |
rs1308920038 | 301 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
COSM262217 | 303 | H>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs895810750 | 303 | H>L | No |
TOPMed gnomAD |
|
rs895810750 | 303 | H>R | No |
TOPMed gnomAD |
|
rs1463001431 | 308 | G>R | No | gnomAD | |
rs1157857057 | 309 | A>G | No | gnomAD | |
TCGA novel | 309 | A>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1417630 | 312 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1179544977 | 312 | V>M | No |
TOPMed gnomAD |
|
rs367787967 | 313 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs367787967 | 313 | E>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2083306924 | 313 | E>V | No | gnomAD | |
COSM71740 | 315 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs974707812 | 316 | D>E | No | TOPMed | |
rs1365097106 | 316 | D>V | No |
TOPMed gnomAD |
|
rs1576263906 | 316 | D>Y | No | Ensembl | |
rs746741042 | 317 | D>G | No |
ExAC TOPMed gnomAD |
|
rs777551238 | 321 | L>F | No |
ExAC TOPMed gnomAD |
|
rs758028047 | 322 | L>V | No |
ExAC TOPMed gnomAD |
|
rs1261648781 | 324 | T>A | No | gnomAD | |
rs2107595794 | 326 | Q>E | No | Ensembl | |
rs2107595792 | 327 | A>T | No | Ensembl | |
rs2083295919 | 328 | M>I | No | TOPMed | |
rs764021597 | 328 | M>V | No |
ExAC gnomAD |
|
rs2083295886 | 329 | D>H | No | Ensembl | |
rs373644630 | 334 | L>F | No |
ESP TOPMed gnomAD |
|
rs373644630 | 334 | L>V | No |
ESP TOPMed gnomAD |
|
rs2107595775 | 336 | D>E | No | 1000Genomes | |
rs754576197 | 336 | D>Y | No |
TOPMed gnomAD |
|
rs2083295704 | 337 | E>* | No | Ensembl | |
rs563417689 | 338 | K>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2083295667 | 338 | K>R | No | TOPMed | |
rs746754535 | 339 | Y>* | No |
ExAC TOPMed gnomAD |
|
rs2083295543 | 339 | Y>C | No | gnomAD | |
rs1415227906 | 339 | Y>D | No | gnomAD | |
rs2083295543 | 339 | Y>F | No | gnomAD | |
rs1415227906 | 339 | Y>H | No | gnomAD | |
COSM1036065 | 339 | Y>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1393961108 | 340 | G>E | No | TOPMed | |
rs2107595758 | 341 | C>* | No | Ensembl | |
rs543542368 | 341 | C>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs771877706 | 342 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs1476399406 | 342 | Y>H | No | gnomAD | |
rs771877706 | 342 | Y>S | No |
ExAC TOPMed gnomAD |
|
COSM2916928 | 343 | K>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1036064 rs1560417803 |
347 | A>V | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs1484906522 | 348 | I>F | No | gnomAD | |
rs1484906522 | 348 | I>V | No | gnomAD | |
rs2083295105 | 349 | M>I | No | TOPMed | |
rs2083295134 | 349 | M>K | No | TOPMed | |
COSM1417628 | 349 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2083295073 | 350 | H>R | No | Ensembl | |
rs2083295040 | 351 | F>L | No | Ensembl | |
rs2083295024 | 352 | G>R | No | Ensembl | |
rs2083295000 | 353 | N>D | No | Ensembl | |
rs530028325 | 354 | M>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs754442718 | 358 | Q>K | No |
ExAC gnomAD |
|
rs1483804192 | 358 | Q>P | No | gnomAD | |
rs1271785084 | 359 | K>N | No |
TOPMed gnomAD |
|
rs1212303219 | 360 | P>A | No |
TOPMed gnomAD |
|
rs200238777 | 360 | P>H | No |
ESP ExAC TOPMed gnomAD |
|
rs1325089156 | 361 | R>T | No | Ensembl | |
rs1195558394 | 362 | E>K | No | gnomAD | |
rs750739017 | 363 | E>* | No | Ensembl | |
rs143858387 | 363 | E>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1232582582 | 364 | Q>K | No | gnomAD | |
rs2083294571 | 366 | E>Q | No | Ensembl | |
rs756543125 | 367 | A>V | No |
ExAC TOPMed gnomAD |
|
rs750816941 | 368 | D>E | No |
ExAC gnomAD |
|
rs764247983 | 369 | G>C | No |
TOPMed gnomAD |
|
rs764247983 | 369 | G>S | No |
TOPMed gnomAD |
|
rs2107595687 | 370 | T>I | No | Ensembl | |
rs767821296 | 370 | T>P | No |
ExAC gnomAD |
|
rs746314486 | 372 | N>I | No |
ExAC TOPMed gnomAD |
|
rs746314486 | 372 | N>S | No |
ExAC TOPMed gnomAD |
|
rs374773217 | 373 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
rs950714565 | 374 | D>G | No |
TOPMed gnomAD |
|
rs867439451 | 375 | K>R | No |
TOPMed gnomAD |
|
rs867439451 | 375 | K>T | No |
TOPMed gnomAD |
|
rs2083222630 | 376 | A>D | No | TOPMed | |
COSM4940844 | 376 | A>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2083222630 | 376 | A>V | No | TOPMed | |
rs1270875839 | 378 | F>L | No |
TOPMed gnomAD |
|
COSM4943000 | 378 | F>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2083222539 | 378 | F>S | No | Ensembl | |
rs757610613 | 379 | L>F | No |
ExAC TOPMed gnomAD |
|
rs2083222459 | 379 | L>H | No | gnomAD | |
rs2083222391 | 380 | M>I | No | Ensembl | |
rs777834304 | 380 | M>T | No |
ExAC gnomAD |
|
rs778269071 | 380 | M>V | No |
ExAC TOPMed gnomAD |
|
rs758542722 | 381 | G>A | No |
ExAC TOPMed gnomAD |
|
rs758542722 | 381 | G>D | No |
ExAC TOPMed gnomAD |
|
COSM3845757 | 381 | G>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1189493879 | 382 | I>N | No |
TOPMed gnomAD |
|
rs1466697667 | 382 | I>V | No | gnomAD | |
rs752745056 | 383 | N>S | No |
ExAC gnomAD |
|
rs1474913116 | 384 | S>P | No | TOPMed | |
rs2083221966 | 385 | S>C | No | Ensembl | |
rs901641175 | 386 | E>G | No | Ensembl | |
rs901641175 | 386 | E>V | No | Ensembl | |
rs2083221775 | 388 | V>A | No | TOPMed | |
COSM419465 | 391 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs750385192 | 393 | H>R | No |
ExAC gnomAD |
|
rs867027541 | 393 | H>Y | No | Ensembl | |
rs767478721 | 394 | P>T | No |
ExAC gnomAD |
|
rs761679187 | 397 | K>E | No |
ExAC gnomAD |
|
rs201158244 | 398 | V>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1380535875 | 398 | V>F | No |
1000Genomes gnomAD |
|
rs1380535875 | 398 | V>I | No |
1000Genomes gnomAD |
|
rs768226020 | 399 | G>R | No |
ExAC TOPMed gnomAD |
|
rs762615979 | 400 | N>D | No |
ExAC TOPMed gnomAD |
|
rs769226804 | 401 | E>D | No |
ExAC TOPMed gnomAD |
|
rs267599529 | 401 | E>K | No |
TOPMed gnomAD |
|
rs1249756980 | 401 | E>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs746439397 | 404 | T>N | No |
ExAC TOPMed gnomAD |
|
rs1355612761 | 406 | G>C | No | TOPMed | |
rs771330367 | 407 | Q>* | No |
ExAC gnomAD |
|
rs370092066 | 407 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
rs2083220784 | 409 | I>M | No | gnomAD | |
rs1314064997 | 409 | I>R | No |
TOPMed gnomAD |
|
rs2083220844 | 409 | I>V | No | TOPMed | |
rs1019657113 | 410 | E>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs778156814 | 411 | Q>* | No | ExAC | |
rs1291067970 | 411 | Q>H | No | TOPMed | |
rs747495477 | 413 | T>I | No |
ExAC TOPMed gnomAD |
|
rs747495477 | 413 | T>N | No |
ExAC TOPMed gnomAD |
|
rs1219756091 | 414 | C>R | No | gnomAD | |
rs773455934 | 415 | A>S | No |
ExAC gnomAD |
|
rs563821846 | 416 | V>F | No |
1000Genomes ExAC gnomAD |
|
rs563821846 | 416 | V>I | No |
1000Genomes ExAC gnomAD |
|
rs1302996122 | 417 | G>D | No |
TOPMed gnomAD |
|
rs781328238 | 417 | G>R | No | gnomAD | |
rs779256964 | 418 | A>G | No |
ExAC TOPMed gnomAD |
|
rs779256964 | 418 | A>V | No |
ExAC TOPMed gnomAD |
|
rs2083167731 | 419 | L>V | No | TOPMed | |
rs1397475191 | 420 | S>A | No |
TOPMed gnomAD |
|
rs1172787673 | 420 | S>F | No | gnomAD | |
rs1397475191 | 420 | S>T | No |
TOPMed gnomAD |
|
rs1416969740 | 423 | M>I | No | gnomAD | |
rs930250533 | 423 | M>T | No |
TOPMed gnomAD |
|
rs1185159336 | 424 | Y>H | No | gnomAD | |
rs755149252 | 425 | E>* | No |
ExAC gnomAD |
|
rs976900741 | 425 | E>A | No |
TOPMed gnomAD |
|
rs2107587207 | 425 | E>D | No | Ensembl | |
rs755149252 | 425 | E>K | No |
ExAC gnomAD |
|
rs142178990 | 427 | M>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM6162792 | 427 | M>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs749413131 | 427 | M>T | No |
ExAC TOPMed gnomAD |
|
COSM3974065 | 428 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2083167380 | 428 | F>L | No |
TOPMed gnomAD |
|
rs1199899116 | 428 | F>S | No | gnomAD | |
rs1199899116 | 428 | F>Y | No | gnomAD | |
rs757272054 | 429 | K>N | No |
ExAC TOPMed gnomAD |
|
rs1247445652 | 430 | W>* | No | gnomAD | |
rs1313052992 | 433 | A>T | No | gnomAD | |
rs566515743 | 433 | A>V | No |
TOPMed gnomAD |
|
rs763862200 | 434 | R>G | No |
ExAC TOPMed gnomAD |
|
VAR_030235 rs4299484 |
434 | R>Q | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs763862200 | 434 | R>W | No |
ExAC TOPMed gnomAD |
|
rs1465638015 | 435 | I>M | No |
TOPMed gnomAD |
|
COSM1036063 | 435 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2083166893 | 436 | N>S | No | TOPMed | |
rs781328238 | 437 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1304139756 | 437 | R>W | No |
TOPMed gnomAD |
|
rs956018224 | 438 | A>D | No |
TOPMed gnomAD |
|
rs1393649090 | 438 | A>T | No | gnomAD | |
rs2107587151 | 441 | A>D | No | Ensembl | |
TCGA novel | 442 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs752338176 | 442 | K>R | No |
ExAC TOPMed gnomAD |
|
rs1459271805 | 443 | L>M | No |
TOPMed gnomAD |
|
rs2083166638 | 443 | L>R | No | TOPMed | |
rs1459271805 | 443 | L>V | No |
TOPMed gnomAD |
|
rs764834314 | 444 | S>L | No |
ExAC gnomAD |
|
rs1174248124 | 446 | Q>H | No |
TOPMed gnomAD |
|
rs2083166510 | 446 | Q>K | No | Ensembl | |
rs776138024 | 446 | Q>P | No |
ExAC gnomAD |
|
TCGA novel | 446 | Q>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 447 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs199535299 | 449 | I>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2083166420 | 449 | I>V | No | TOPMed | |
rs1351058349 | 450 | G>C | No | TOPMed | |
COSM3408098 | 451 | I>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs761155417 | 451 | I>V | No |
ExAC TOPMed gnomAD |
|
rs202140390 | 453 | D>N | No |
ExAC TOPMed gnomAD |
|
rs1271858882 | 454 | I>N | No | gnomAD | |
rs977736264 | 455 | T>P | No |
TOPMed gnomAD |
|
rs772374911 | 456 | G>S | No |
ExAC gnomAD |
|
rs1208029402 | 458 | E>K | No |
TOPMed gnomAD |
|
COSM445266 rs956018224 |
458 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs200023296 | 459 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1287746933 | 462 | Y>C | No |
TOPMed gnomAD |
|
rs753486570 | 462 | Y>N | No |
ExAC gnomAD |
|
rs1287746933 | 462 | Y>S | No |
TOPMed gnomAD |
|
rs1274147157 | 463 | N>D | No |
TOPMed gnomAD |
|
rs765935868 | 464 | S>N | No |
ExAC TOPMed gnomAD |
|
rs760214534 | 464 | S>R | No |
ExAC TOPMed gnomAD |
|
rs1272567948 | 465 | L>F | No | gnomAD | |
TCGA novel | 465 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs750934547 | 466 | E>* | No |
ExAC TOPMed gnomAD |
|
rs762179606 | 467 | Q>* | No |
ExAC TOPMed gnomAD |
|
rs762179606 | 467 | Q>K | No |
ExAC TOPMed gnomAD |
|
rs769074721 | 468 | L>F | No |
ExAC TOPMed gnomAD |
|
rs769074721 | 468 | L>V | No |
ExAC TOPMed gnomAD |
|
rs183838764 | 469 | C>* | No |
1000Genomes ExAC gnomAD |
|
rs2083160177 | 469 | C>R | No | TOPMed | |
rs189002397 | 469 | C>Y | No |
1000Genomes ExAC gnomAD |
|
rs1012927501 | 470 | I>F | No |
TOPMed gnomAD |
|
rs2083160055 | 470 | I>N | No | gnomAD | |
rs1012927501 | 470 | I>V | No |
TOPMed gnomAD |
|
rs1434339473 | 473 | T>A | No | gnomAD | |
rs769813232 | 474 | N>I | No |
ExAC TOPMed gnomAD |
|
rs769813232 | 474 | N>S | No |
ExAC TOPMed gnomAD |
|
COSM1036062 | 475 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 480 | F>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1221535615 | 480 | F>S | No |
TOPMed gnomAD |
|
rs200523411 | 482 | N>S | No |
1000Genomes ExAC gnomAD |
|
rs754756905 | 483 | W>* | No |
ExAC TOPMed gnomAD |
|
rs754756905 | 483 | W>C | No |
ExAC TOPMed gnomAD |
|
rs2107586725 | 483 | W>R | No | Ensembl | |
rs9868484 VAR_030236 |
484 | H>Y | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs374184872 | 485 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
rs779729382 | 485 | M>L | No |
ExAC gnomAD |
|
COSM460960 rs750934547 |
486 | F>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC TOPMed gnomAD |
rs749972581 | 487 | V>A | No |
ExAC gnomAD |
|
rs2083159438 | 487 | V>I | No | Ensembl | |
rs370509544 | 492 | E>* | No |
ESP ExAC TOPMed gnomAD |
|
rs2083159312 | 492 | E>D | No | gnomAD | |
rs762388881 | 493 | Y>* | No |
ExAC gnomAD |
|
rs1345055012 | 493 | Y>C | No | gnomAD | |
rs752106756 | 494 | K>E | No |
ExAC gnomAD |
|
rs2083159179 | 494 | K>N | No | TOPMed | |
rs2083159131 | 496 | E>A | No | Ensembl | |
rs2083159031 | 497 | S>G | No | Ensembl | |
rs763387205 | 497 | S>N | No |
ExAC TOPMed gnomAD |
|
rs1357652980 | 498 | I>S | No | gnomAD | |
rs1357652980 | 498 | I>T | No | gnomAD | |
rs1156434689 | 498 | I>V | No |
TOPMed gnomAD |
|
TCGA novel | 499 | E>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs934882375 | 499 | E>K | No |
TOPMed gnomAD |
|
rs934882375 | 499 | E>Q | No |
TOPMed gnomAD |
|
rs775890404 | 500 | W>R | No |
ExAC gnomAD |
|
rs1163895980 | 501 | V>A | No | gnomAD | |
rs373089482 | 502 | S>F | No |
ESP ExAC gnomAD |
|
rs2083158496 | 502 | S>P | No | Ensembl | |
rs564969651 | 503 | I>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs564969651 | 503 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2083158370 | 504 | G>V | No | gnomAD | |
rs1471976264 | 506 | G>D | No | gnomAD | |
rs1187695866 | 506 | G>S | No | gnomAD | |
rs2083158240 | 507 | L>P | No | TOPMed | |
rs1560401063 | 508 | D>G | No | Ensembl | |
rs76832287 | 509 | L>F | No |
ExAC gnomAD |
|
rs753497088 | 510 | Q>R | No | Ensembl | |
rs1211735056 | 511 | A>V | No | gnomAD | |
rs1442540969 | 512 | C>F | No | gnomAD | |
COSM4892747 rs370509544 |
512 | C>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1256866403 | 514 | D>G | No | gnomAD | |
TCGA novel | 516 | I>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 516 | I>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2083157949 | 516 | I>V | No | Ensembl | |
rs768484232 | 518 | K>E | No |
ExAC TOPMed gnomAD |
|
rs1278693369 | 518 | K>R | No | gnomAD | |
rs1441059259 | 519 | P>S | No |
TOPMed gnomAD |
|
rs1348060424 | 520 | M>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
COSM6095827 | 520 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs780684537 | 520 | M>V | No |
ExAC TOPMed gnomAD |
|
rs2083101373 | 521 | G>D | No | Ensembl | |
rs2083101319 | 522 | I>V | No | TOPMed | |
TCGA novel | 522 | I>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs746544618 | 525 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1487813987 | 526 | L>F | No | gnomAD | |
rs1284174391 | 527 | E>K | No | gnomAD | |
rs528506562 | 528 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs765693363 | 529 | E>* | No |
ExAC TOPMed gnomAD |
|
rs765693363 | 529 | E>K | No |
ExAC TOPMed gnomAD |
|
rs1217490781 | 529 | E>V | No | gnomAD | |
rs1312566927 | 530 | C>R | No | gnomAD | |
rs1294590651 | 531 | M>I | No |
TOPMed gnomAD |
|
rs369870197 | 531 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
rs2083100946 | 531 | M>V | No | TOPMed | |
rs1176944388 | 532 | F>C | No | TOPMed | |
rs2083100828 | 533 | P>S | No | Ensembl | |
rs754133409 | 534 | K>T | No |
ExAC TOPMed gnomAD |
|
rs2083100764 | 535 | A>T | No | gnomAD | |
rs766623729 | 536 | T>A | No |
ExAC gnomAD |
|
rs1464575940 | 537 | D>E | No |
TOPMed gnomAD |
|
rs2083100692 | 537 | D>H | No | Ensembl | |
rs760837884 | 538 | L>M | No |
ExAC gnomAD |
|
rs773294770 | 538 | L>P | No |
ExAC TOPMed gnomAD |
|
rs773294770 | 538 | L>Q | No |
ExAC TOPMed gnomAD |
|
COSM200948 rs2107583462 |
540 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA Cosmic |
rs767520849 | 541 | K>R | No |
ExAC gnomAD |
|
rs2083100533 | 543 | K>* | No | Ensembl | |
COSM3584986 | 544 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs192522176 | 544 | L>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs192522176 | 544 | L>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2083100467 | 545 | F>L | No | Ensembl | |
rs2083100441 | 545 | F>S | No | Ensembl | |
rs377215115 | 547 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs769677172 | 548 | H>P | No |
ExAC TOPMed gnomAD |
|
rs2083100332 | 549 | F>C | No | Ensembl | |
rs770913205 | 550 | G>A | No |
ExAC gnomAD |
|
rs577325025 | 551 | K>N | No |
1000Genomes ExAC gnomAD |
|
rs1487867790 | 551 | K>T | No | gnomAD | |
rs78421779 RCV000911276 |
552 | S>L | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs777423353 | 553 | V>I | No |
ExAC gnomAD |
|
rs1313975769 | 555 | L>P | No | gnomAD | |
rs748740422 | 559 | K>E | No |
ExAC gnomAD |
|
rs779260669 | 560 | P>T | No |
ExAC gnomAD |
|
rs755474705 | 561 | D>N | No |
ExAC gnomAD |
|
rs1280479719 | 562 | K>E | No |
TOPMed gnomAD |
|
rs2083099574 | 563 | K>E | No | Ensembl | |
rs187501694 | 565 | F>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs187501694 | 565 | F>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1464120486 | 567 | A>V | No | gnomAD | |
rs1360366482 | 568 | H>L | No |
TOPMed gnomAD |
|
rs1207927099 | 570 | E>A | No | TOPMed | |
rs1177114948 | 571 | L>F | No | gnomAD | |
rs1477451563 | 571 | L>P | No |
1000Genomes gnomAD |
|
rs1477451563 | 571 | L>R | No |
1000Genomes gnomAD |
|
rs750641020 | 572 | V>F | No |
ExAC gnomAD |
|
rs761774880 | 573 | H>P | No |
ExAC TOPMed gnomAD |
|
rs761774880 | 573 | H>R | No |
ExAC TOPMed gnomAD |
|
rs1303236433 | 574 | Y>C | No |
TOPMed gnomAD |
|
rs752718954 | 574 | Y>N | No |
ExAC gnomAD |
|
rs757975090 | 574 | Y>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs942728799 | 576 | G>A | No | TOPMed | |
rs759465045 | 577 | V>M | No |
ExAC gnomAD |
|
rs773105172 | 578 | V>A | No |
ExAC gnomAD |
|
rs760517838 | 578 | V>L | No |
ExAC gnomAD |
|
rs1391896335 | 579 | P>L | No |
TOPMed gnomAD |
|
TCGA novel | 579 | P>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs771649700 | 579 | P>S | No |
ExAC gnomAD |
|
rs1000618392 | 580 | Y>C | No | gnomAD | |
TCGA novel | 581 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2083085896 | 582 | I>T | No | Ensembl | |
rs2083085872 | 584 | G>D | No | Ensembl | |
rs1161260425 | 585 | W>* | No | gnomAD | |
COSM1216191 | 585 | W>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 586 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs202235922 | 588 | K>T | No |
TOPMed gnomAD |
|
rs1459192448 | 589 | N>K | No | gnomAD | |
rs761475222 | 590 | K>E | No |
ExAC gnomAD |
|
rs773739662 | 591 | D>G | No |
ExAC TOPMed gnomAD |
|
rs2083085711 | 591 | D>N | No | Ensembl | |
rs768209260 | 592 | L>F | No |
ExAC TOPMed gnomAD |
|
rs1318905301 | 593 | L>F | No |
TOPMed gnomAD |
|
rs202208116 | 593 | L>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs749820395 | 594 | N>D | No |
ExAC gnomAD |
|
rs749820395 | 594 | N>H | No |
ExAC gnomAD |
|
TCGA novel | 595 | E>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM4112068 rs2083098745 |
595 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
COSM3584984 | 597 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs780519629 | 597 | V>M | No |
ExAC gnomAD |
|
rs770181748 | 599 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1265813043 | 600 | V>I | No | gnomAD | |
rs1428770120 | 602 | Q>R | No |
TOPMed gnomAD |
|
rs2083085925 COSM6162793 |
602 | Q>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs1212007385 | 603 | K>* | No | gnomAD | |
COSM3584982 | 604 | S>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1285249699 | 605 | S>P | No | TOPMed | |
rs1223168429 | 606 | N>K | No |
TOPMed gnomAD |
|
rs2083085288 | 607 | R>G | No | Ensembl | |
rs144190634 | 608 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2083085201 | 609 | L>P | No |
TOPMed gnomAD |
|
rs28565077 | 610 | A>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs28565077 | 610 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2107582388 | 610 | A>T | No | Ensembl | |
rs28565077 | 610 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1239071729 | 611 | S>N | No |
TOPMed gnomAD |
|
rs369600445 | 611 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
rs768209260 COSM727405 |
612 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs1321461145 | 613 | F>L | No |
TOPMed gnomAD |
|
COSM4900958 | 615 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2083084951 | 615 | N>T | No | TOPMed | |
rs1365935762 | 616 | Y>C | No |
TOPMed gnomAD |
|
rs1418094358 | 619 | T>A | No | gnomAD | |
rs1382309756 | 619 | T>I | No | gnomAD | |
rs1159232108 | 620 | D>G | No | gnomAD | |
rs1477700442 | 621 | S>G | No | gnomAD | |
rs766452446 | 621 | S>R | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 622 | A>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1200279183 | 622 | A>G | No |
TOPMed gnomAD |
|
rs1361848680 | 623 | I>M | No | Ensembl | |
COSM3584980 | 623 | I>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2083061098 | 623 | I>T | No | Ensembl | |
rs779079183 | 623 | I>V | No |
ExAC gnomAD |
|
rs750385253 | 625 | F>S | No |
ExAC TOPMed gnomAD |
|
rs1342119001 | 626 | G>A | No |
TOPMed gnomAD |
|
rs748418471 | 627 | E>K | No |
TOPMed gnomAD |
|
rs767277272 | 630 | R>L | No |
ExAC TOPMed gnomAD |
|
rs767277272 | 630 | R>P | No |
ExAC TOPMed gnomAD |
|
rs2083060648 | 633 | G>E | No | TOPMed | |
rs757055798 | 633 | G>R | No |
ExAC gnomAD |
|
rs2083060567 | 634 | A>S | No | TOPMed | |
rs1330428163 | 634 | A>V | No |
TOPMed gnomAD |
|
rs751213071 | 635 | S>L | No |
ExAC TOPMed gnomAD |
|
rs753869502 | 637 | Q>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs370614771 | 638 | T>K | No |
ESP ExAC gnomAD |
|
rs370614771 | 638 | T>M | No |
ESP ExAC gnomAD |
|
rs969399607 | 639 | V>A | No | gnomAD | |
rs2107580688 | 639 | V>F | No | Ensembl | |
TCGA novel | 639 | V>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2083060141 | 640 | A>T | No | Ensembl | |
rs771247217 | 643 | H>R | No |
ExAC gnomAD |
|
rs761134573 | 644 | K>E | No |
ExAC TOPMed gnomAD |
|
rs768236701 | 645 | E>V | No | Ensembl | |
rs372985354 | 646 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
rs2083052836 | 649 | K>T | No | TOPMed | |
rs1447567943 | 650 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
COSM4112067 rs767277272 |
650 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs1225477202 | 651 | M>L | No |
TOPMed gnomAD |
|
rs1225477202 | 651 | M>V | No |
TOPMed gnomAD |
|
rs2083052741 | 652 | T>A | No | gnomAD | |
rs2083052741 | 652 | T>S | No | gnomAD | |
rs528326951 | 653 | N>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs528326951 | 653 | N>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2083052518 | 653 | N>S | No |
TOPMed gnomAD |
|
rs770912310 | 654 | L>M | No |
ExAC TOPMed gnomAD |
|
rs1304653369 | 656 | S>* | No |
TOPMed gnomAD |
|
rs1304653369 | 656 | S>L | No |
TOPMed gnomAD |
|
rs2083052350 | 657 | T>A | No |
TOPMed gnomAD |
|
rs1466606718 | 657 | T>I | No | TOPMed | |
rs1424889834 | 659 | P>R | No | gnomAD | |
rs2083052264 | 660 | H>D | No |
TOPMed gnomAD |
|
rs2083060103 TCGA novel |
660 | H>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs777607293 | 661 | F>L | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 661 | F>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1395222008 | 662 | V>M | No |
TOPMed gnomAD |
|
rs1420315098 | 663 | R>K | No | gnomAD | |
rs370013713 | 664 | C>R | No |
ESP TOPMed |
|
rs758176683 | 664 | C>W | No |
ExAC gnomAD |
|
rs1190533862 | 665 | I>V | No | gnomAD | |
rs1021406992 | 668 | N>S | No |
TOPMed gnomAD |
|
rs778503625 | 668 | N>Y | No |
ExAC gnomAD |
|
rs547076458 | 669 | V>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs547076458 | 669 | V>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 671 | K>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1011739529 | 672 | I>L | No |
TOPMed gnomAD |
|
rs200125882 | 672 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
rs751011526 | 674 | G>D | No |
ExAC gnomAD |
|
rs2107580205 | 674 | G>S | No | 1000Genomes | |
rs751011526 | 674 | G>V | No |
ExAC gnomAD |
|
COSM3584979 | 675 | I>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs201634509 | 675 | I>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs757793113 | 675 | I>M | No |
ExAC gnomAD |
|
rs201634509 | 675 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs548545110 | 676 | L>Q | No |
1000Genomes ExAC gnomAD |
|
rs2083024811 | 678 | P>L | No | Ensembl | |
rs1180225970 | 678 | P>S | No | gnomAD | |
rs2107578781 | 683 | Q>L | No | Ensembl | |
rs764483316 | 684 | Q>K | No |
ExAC gnomAD |
|
rs1409620131 | 684 | Q>L | No |
TOPMed gnomAD |
|
rs1462527519 | 685 | L>M | No |
TOPMed gnomAD |
|
rs764665272 | 686 | R>G | No |
ExAC TOPMed gnomAD |
|
rs776650354 | 686 | R>H | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 687 | C>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3584978 rs560378764 |
687 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs2083024395 | 688 | N>D | No | TOPMed | |
rs1307720156 | 688 | N>S | No |
TOPMed gnomAD |
|
rs772012997 | 689 | G>S | No |
ExAC gnomAD |
|
COSM3845756 | 693 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 694 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
rs2107578749 | 694 | T>I | No | Ensembl | |
rs2107578742 | 695 | R>S | No | Ensembl | |
rs1371097497 | 695 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs768324215 | 696 | I>R | No |
ExAC gnomAD |
|
rs749022371 | 697 | C>G | No |
ExAC gnomAD |
|
rs993897837 | 698 | R>C | No | Ensembl | |
rs779545620 | 698 | R>H | No |
ExAC TOPMed gnomAD |
|
rs755755124 | 700 | G>C | No |
ExAC gnomAD |
|
rs1161882115 | 700 | G>V | No | gnomAD | |
rs372960265 | 704 | R>* | No |
ESP ExAC TOPMed gnomAD |
|
rs912664365 | 704 | R>L | No |
TOPMed gnomAD |
|
rs912664365 | 704 | R>Q | No |
TOPMed gnomAD |
|
rs764665272 | 706 | Q>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs528517434 | 707 | Y>C | No |
1000Genomes ExAC gnomAD |
|
TCGA novel | 709 | D>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs911109043 | 711 | K>R | No | Ensembl | |
rs2083023255 | 712 | Q>E | No | TOPMed | |
rs764573693 | 712 | Q>L | No |
ExAC TOPMed gnomAD |
|
rs764573693 | 712 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs774251215 | 715 | C>R | No |
ExAC gnomAD |
|
rs550383018 | 716 | I>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs550383018 | 716 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1292003318 | 718 | N>D | No | gnomAD | |
rs762692013 COSM727406 |
718 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC gnomAD NCI-TCGA Cosmic |
rs1347895796 | 719 | P>A | No |
TOPMed gnomAD |
|
rs199597424 | 719 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs745444189 | 721 | T>A | No |
ExAC TOPMed gnomAD |
|
rs745444189 | 721 | T>S | No |
ExAC TOPMed gnomAD |
|
COSM3914480 | 722 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs912664365 COSM727407 |
724 | K>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs2083014851 | 725 | S>C | No | TOPMed | |
rs1346416474 | 726 | K>N | No | gnomAD | |
rs747564425 | 727 | F>L | No |
ExAC gnomAD |
|
rs778111275 | 727 | F>S | No |
ExAC gnomAD |
|
rs1008484498 | 729 | S>G | No | TOPMed | |
rs2083014567 | 730 | S>I | No | gnomAD | |
rs1253894885 | 731 | R>S | No | Ensembl | |
COSM6162795 | 732 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1451028040 | 733 | A>T | No | gnomAD | |
rs1387192147 | 733 | A>V | No | gnomAD | |
rs1159719538 | 734 | A>P | No | gnomAD | |
rs758897572 | 735 | E>K | No |
ExAC gnomAD |
|
rs2083014339 | 736 | E>G | No | TOPMed | |
rs2083014305 | 737 | L>I | No | Ensembl | |
rs953904162 | 739 | G>S | No |
TOPMed gnomAD |
|
rs2083014207 | 740 | S>A | No | TOPMed | |
TCGA novel | 740 | S>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs889045635 | 742 | E>G | No |
TOPMed gnomAD |
|
rs2083014157 | 742 | E>K | No | Ensembl | |
rs1362111661 | 743 | I>K | No |
TOPMed gnomAD |
|
rs1362111661 | 743 | I>R | No |
TOPMed gnomAD |
|
rs1362111661 | 743 | I>T | No |
TOPMed gnomAD |
|
rs144221103 RCV000963291 |
745 | H>D | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2072297318 | 746 | T>A | No | TOPMed | |
rs1560384428 | 746 | T>I | No | Ensembl | |
rs754046893 | 747 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs2083013907 | 747 | Q>R | No | Ensembl | |
rs1390538784 | 748 | Y>C | No | TOPMed | |
rs2083013840 | 748 | Y>H | No | TOPMed | |
rs760717886 | 749 | R>* | No |
ExAC TOPMed gnomAD |
|
rs750480643 | 749 | R>L | No |
ExAC TOPMed gnomAD |
|
rs1305724527 | 750 | F>S | No |
TOPMed gnomAD |
|
rs2083013676 | 751 | G>V | No | gnomAD | |
rs966339069 | 752 | I>V | No |
TOPMed gnomAD |
|
rs2082999779 | 755 | V>A | No |
TOPMed gnomAD |
|
rs2082999731 | 756 | F>C | No |
TOPMed gnomAD |
|
rs1244220679 | 758 | K>N | No | gnomAD | |
rs1263799971 | 759 | A>V | No | gnomAD | |
COSM4478923 | 760 | G>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs752663847 | 764 | Q>* | No |
ExAC gnomAD |
|
rs983405322 | 765 | L>R | No |
TOPMed gnomAD |
|
rs759370560 | 766 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs199678295 | 767 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1282804358 | 768 | I>T | No |
TOPMed gnomAD |
|
rs750480643 COSM2916898 |
769 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs917805770 | 769 | R>T | No |
TOPMed gnomAD |
|
COSM727408 | 770 | D>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1168111608 | 771 | E>K | No | gnomAD | |
rs1224172652 | 772 | R>I | No | gnomAD | |
rs1214120812 | 773 | L>P | No | TOPMed | |
rs1214120812 | 773 | L>R | No | TOPMed | |
rs200731611 | 775 | K>N | No |
ESP TOPMed gnomAD |
|
rs771599362 | 776 | V>G | No |
ExAC gnomAD |
|
rs772601227 | 776 | V>I | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 777 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 778 | T>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs200428962 | 778 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2082999020 | 779 | L>* | No | gnomAD | |
rs2082999020 | 779 | L>S | No | gnomAD | |
COSM3584976 | 780 | F>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1009761776 | 781 | Q>E | No | Ensembl | |
COSM1036060 | 781 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs749679527 | 784 | A>T | No |
ExAC TOPMed gnomAD |
|
rs373706528 | 785 | Q>K | No |
ESP ExAC gnomAD |
|
rs756335958 | 785 | Q>L | No |
ExAC TOPMed gnomAD |
|
rs756335958 | 785 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs1317267401 | 786 | G>S | No | gnomAD | |
rs746095022 | 786 | G>V | No |
ExAC gnomAD |
|
rs1302489660 | 788 | L>V | No |
TOPMed gnomAD |
|
rs757333706 | 789 | M>I | No |
ExAC TOPMed gnomAD |
|
COSM3584975 | 789 | M>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs781183879 | 789 | M>V | No |
ExAC TOPMed gnomAD |
|
rs201762535 | 790 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
COSM3974064 | 790 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs765296436 | 790 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs754913321 | 792 | K>* | No |
ExAC gnomAD |
|
rs1363268042 | 793 | F>C | No | gnomAD | |
rs769557794 | 795 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 795 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 797 | L>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2082998351 | 798 | E>K | No | Ensembl | |
rs77864349 | 799 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs766209183 | 800 | R>K | No |
ExAC gnomAD |
|
rs1560373156 | 801 | D>E | No | Ensembl | |
rs1263020564 | 802 | A>T | No |
TOPMed gnomAD |
|
rs1056578602 | 803 | L>F | No | TOPMed | |
COSM1417624 | 805 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2082914920 | 806 | I>V | No | TOPMed | |
rs1291549060 | 807 | Q>* | No |
TOPMed gnomAD |
|
rs1427856299 | 807 | Q>R | No |
TOPMed gnomAD |
|
rs780043827 | 808 | W>* | No |
ExAC gnomAD |
|
rs1044785108 | 809 | N>S | No |
TOPMed gnomAD |
|
COSM1036058 rs201762535 |
810 | I>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1047456392 | 810 | I>L | No |
TOPMed gnomAD |
|
rs1286612242 | 810 | I>T | No |
TOPMed gnomAD |
|
rs1047456392 | 810 | I>V | No |
TOPMed gnomAD |
|
rs1432234171 | 811 | R>G | No | gnomAD | |
rs914915512 | 812 | A>P | No | TOPMed | |
COSM4839524 | 812 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs373555994 | 814 | M>I | No |
ESP TOPMed gnomAD |
|
rs755906960 | 815 | A>S | No |
ExAC gnomAD |
|
rs935279951 | 815 | A>V | No | TOPMed | |
rs74614944 | 816 | V>G | No | Ensembl | |
rs202175542 | 816 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2082914401 | 817 | K>R | No | gnomAD | |
rs761316899 | 819 | W>* | No |
ExAC gnomAD |
|
rs199667941 | 819 | W>* | No |
ExAC gnomAD |
|
rs751078894 | 823 | R>K | No |
ExAC gnomAD |
|
rs1428158578 | 824 | L>F | No | gnomAD | |
rs763593177 | 824 | L>P | No |
ExAC TOPMed gnomAD |
|
rs2082914066 | 827 | K>E | No | Ensembl | |
rs1220692624 | 829 | K>E | No | gnomAD | |
rs775950006 | 830 | P>A | No |
ExAC gnomAD |
|
rs1445884048 | 830 | P>L | No |
TOPMed gnomAD |
|
rs1202324817 | 832 | V>D | No | gnomAD | |
rs770092602 | 833 | K>T | No |
ExAC gnomAD |
|
rs1264156074 | 834 | S>P | No | gnomAD | |
rs868106144 | 835 | S>L | No | Ensembl | |
rs1227063986 | 835 | S>P | No | gnomAD | |
TCGA novel | 835 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs759973580 | 836 | E>D | No |
ExAC gnomAD |
|
rs2082913799 | 836 | E>V | No | Ensembl | |
rs201317902 | 837 | V>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs776810608 | 837 | V>I | No |
ExAC TOPMed gnomAD |
|
rs776810608 | 837 | V>L | No |
ExAC TOPMed gnomAD |
|
rs975066764 | 838 | G>A | No | gnomAD | |
rs1320349738 | 839 | E>G | No | gnomAD | |
rs747161753 | 839 | E>Q | No |
ExAC gnomAD |
|
rs150652144 | 840 | E>V | No |
1000Genomes ExAC gnomAD |
|
rs1461261234 | 841 | V>I | No |
TOPMed gnomAD |
|
TCGA novel | 844 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 845 | K>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs141734511 | 847 | E>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs544597065 | 847 | E>D | No |
ExAC TOPMed gnomAD |
|
rs2082913295 | 847 | E>Q | No | Ensembl | |
rs1244245804 | 848 | C>G | No | gnomAD | |
rs751203641 | 848 | C>Y | No |
ExAC gnomAD |
|
rs763639811 | 849 | A>E | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 849 | A>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1249303626 | 850 | Q>* | No | gnomAD | |
rs769042271 | 852 | Q>R | No |
TOPMed gnomAD |
|
rs1313755881 | 853 | K>T | No | gnomAD | |
rs2082913030 | 854 | A>D | No | gnomAD | |
rs2082913030 | 854 | A>V | No | gnomAD | |
rs1243052228 | 855 | L>* | No | gnomAD | |
rs1243052228 | 855 | L>S | No | gnomAD | |
COSM3584973 | 858 | S>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs898988719 | 859 | E>* | No | Ensembl | |
rs199891355 | 859 | E>V | No |
1000Genomes ExAC gnomAD |
|
COSM1036057 | 860 | F>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs148022324 | 861 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2082912856 | 861 | Q>R | No |
TOPMed gnomAD |
|
rs1370903467 | 862 | R>K | No |
TOPMed gnomAD |
|
rs765793229 | 862 | R>S | No |
ExAC TOPMed gnomAD |
|
rs780174718 | 862 | R>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA |
rs2107571410 | 862 | R>W | No | Ensembl | |
rs956051156 | 863 | E>K | No |
TOPMed gnomAD |
|
rs956051156 | 863 | E>Q | No |
TOPMed gnomAD |
|
rs759901067 | 864 | E>K | No |
ExAC gnomAD |
|
rs1426571425 | 865 | L>P | No | gnomAD | |
COSM5397738 rs1384670877 |
866 | K>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
COSM3845755 | 867 | A>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2082912570 | 867 | A>T | No | TOPMed | |
rs771195898 | 868 | K>R | No |
ExAC gnomAD |
|
rs761035350 | 869 | Q>H | No |
ExAC gnomAD |
|
COSM727409 | 869 | Q>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2082912409 | 870 | V>E | No | TOPMed | |
rs375541161 | 870 | V>I | No |
ExAC TOPMed gnomAD |
|
rs375541161 | 870 | V>L | No |
ExAC TOPMed gnomAD |
|
rs952191001 | 873 | T>I | No |
TOPMed gnomAD |
|
rs748263267 | 873 | T>P | No | ExAC | |
rs778804255 | 874 | Q>* | No |
ExAC gnomAD |
|
rs2082912243 | 875 | E>D | No | Ensembl | |
TCGA novel | 876 | K>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs769778010 | 876 | K>Q | No |
ExAC gnomAD |
|
rs201541992 | 877 | N>I | No |
ESP ExAC TOPMed gnomAD |
|
rs2082912073 | 878 | D>E | No | Ensembl | |
rs1333849906 | 878 | D>V | No |
TOPMed gnomAD |
|
TCGA novel | 879 | L>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1308883914 | 879 | L>P | No | gnomAD | |
COSM1308361 | 879 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs370952356 | 879 | L>V | No | Ensembl | |
TCGA novel | 881 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs781102092 | 882 | Q>* | No |
ExAC TOPMed gnomAD |
|
COSM4112066 | 882 | Q>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs757020043 | 882 | Q>R | No |
ExAC gnomAD |
|
rs754911212 | 883 | L>P | No | Ensembl | |
rs1301495884 | 884 | Q>R | No | gnomAD | |
rs1406883954 | 885 | A>S | No | gnomAD | |
rs1406883954 | 885 | A>T | No | gnomAD | |
rs746700628 | 885 | A>V | No |
ExAC gnomAD |
|
rs912463985 | 886 | E>D | No | Ensembl | |
rs770838164 | 887 | Q>R | No | Ensembl | |
rs1460754103 | 888 | E>* | No | gnomAD | |
rs200340625 | 891 | A>T | No | Ensembl | |
rs2082883051 | 891 | A>V | No | Ensembl | |
COSM1327129 | 892 | N>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2082883027 | 892 | N>H | No | TOPMed | |
rs1397344653 | 892 | N>K | No | TOPMed | |
rs954000195 | 893 | V>A | No |
TOPMed gnomAD |
|
rs766817556 | 893 | V>I | No |
ExAC TOPMed gnomAD |
|
rs1173344613 | 895 | E>K | No |
TOPMed gnomAD |
|
rs767992111 | 897 | C>G | No |
ExAC gnomAD |
|
rs1560372432 | 897 | C>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs767992111 | 897 | C>R | No |
ExAC gnomAD |
|
rs1299080711 | 897 | C>S | No |
TOPMed gnomAD |
|
rs1339139446 | 898 | E>D | No |
TOPMed gnomAD |
|
rs774418341 | 898 | E>K | No |
ExAC TOPMed gnomAD |
|
rs774418341 | 898 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs2082882672 | 899 | W>L | No | TOPMed | |
TCGA novel | 901 | I>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs764270931 | 901 | I>V | No |
ExAC gnomAD |
|
rs1166924897 | 902 | K>E | No | gnomAD | |
rs2082882542 | 904 | K>E | No |
TOPMed gnomAD |
|
rs775588566 | 905 | I>M | No |
ExAC gnomAD |
|
rs182671464 | 905 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2107568941 | 907 | L>P | No | Ensembl | |
rs368092347 | 913 | E>A | No |
ESP TOPMed gnomAD |
|
rs1442768045 | 913 | E>Q | No | gnomAD | |
rs773055758 | 915 | S>* | No |
ExAC TOPMed gnomAD |
|
rs1279287258 | 915 | S>P | No | TOPMed | |
rs1245285712 | 917 | R>S | No | gnomAD | |
rs1576235582 | 918 | V>G | No | Ensembl | |
TCGA novel | 919 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1381251861 | 919 | E>K | No |
TOPMed gnomAD |
|
rs1381251861 | 919 | E>Q | No |
TOPMed gnomAD |
|
TCGA novel | 919 | E>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs987276966 | 919 | E>V | No |
TOPMed gnomAD |
|
rs1449264862 | 920 | E>K | No | gnomAD | |
rs778462834 | 921 | E>G | No |
ExAC TOPMed gnomAD |
|
rs370643790 | 923 | E>A | No | ESP | |
rs1474177084 | 923 | E>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs768305577 | 923 | E>K | No |
ExAC TOPMed gnomAD |
|
rs748763738 | 924 | I>M | No |
ExAC gnomAD |
|
rs2082881710 | 924 | I>V | No | Ensembl | |
rs1443942160 | 926 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs367785801 | 927 | E>G | No |
ESP TOPMed |
|
VAR_030237 rs12638212 |
929 | T>I | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs12638212 | 929 | T>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2082881509 | 930 | A>S | No | Ensembl | |
rs750956706 | 930 | A>V | No |
ExAC TOPMed gnomAD |
|
rs1383362656 | 931 | R>K | No |
TOPMed gnomAD |
|
rs1345340125 | 932 | G>E | No | TOPMed | |
rs1345340125 | 932 | G>V | No | TOPMed | |
rs1317895575 | 933 | R>G | No | TOPMed | |
rs781725412 | 933 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs2082881281 | 935 | L>F | No | Ensembl | |
COSM2916885 rs773055758 |
935 | L>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs1275449060 | 936 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs764240985 | 937 | D>A | No |
ExAC gnomAD |
|
rs752722233 | 938 | E>D | No |
ExAC gnomAD |
|
rs1225460554 | 939 | C>F | No |
TOPMed gnomAD |
|
rs2082881089 | 939 | C>R | No | TOPMed | |
rs2082881025 | 940 | F>S | No | Ensembl | |
rs1307622889 | 941 | E>A | No |
TOPMed gnomAD |
|
rs1275560159 | 942 | L>W | No | gnomAD | |
rs371327462 | 944 | K>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1357328549 | 945 | E>A | No | gnomAD | |
COSM4962874 rs779646861 |
946 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs760661921 | 946 | I>T | No | ExAC | |
rs2082880807 | 947 | D>G | No | TOPMed | |
rs373858705 | 947 | D>H | No | TOPMed | |
rs373858705 | 947 | D>N | No | TOPMed | |
rs1206930448 | 950 | E>G | No | TOPMed | |
TCGA novel | 950 | E>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs761535712 | 951 | T>A | No |
ExAC TOPMed gnomAD |
|
rs761535712 | 951 | T>P | No |
ExAC TOPMed gnomAD |
|
rs2107568838 COSM6095828 |
951 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs768199591 | 952 | M>T | No |
ExAC gnomAD |
|
rs1284405027 | 952 | M>V | No | Ensembl | |
rs1308242960 | 953 | L>* | No | gnomAD | |
TCGA novel | 953 | L>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs765618753 | 953 | L>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
COSM2916881 rs1317895575 |
953 | L>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
rs2107568765 | 954 | V>A | No | Ensembl | |
rs748967211 | 954 | V>L | No |
ExAC gnomAD |
|
rs748967211 | 954 | V>M | No |
ExAC gnomAD |
|
rs751907919 | 956 | S>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1363164319 | 956 | S>L | No | gnomAD | |
rs2107568755 | 958 | K>R | No | Ensembl | |
rs2082880362 | 959 | E>K | No | Ensembl | |
rs983004146 | 961 | R>C | No | gnomAD | |
COSM4844222 | 961 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs75221360 | 962 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2082880174 | 965 | H>L | No | TOPMed | |
rs1245407296 | 966 | K>E | No | TOPMed | |
rs746421802 | 966 | K>R | No |
ExAC gnomAD |
|
rs1191872448 | 968 | K>E | No | gnomAD | |
rs768487321 | 969 | N>T | No |
ExAC TOPMed gnomAD |
|
rs775255953 | 970 | L>V | No |
ExAC gnomAD |
|
rs2082871976 | 972 | E>G | No | gnomAD | |
rs1255360466 | 972 | E>K | No | TOPMed | |
rs1310095779 | 973 | E>D | No | gnomAD | |
rs376731688 | 973 | E>V | No |
ESP TOPMed gnomAD |
|
rs2082871807 | 974 | V>A | No | Ensembl | |
rs2082871830 | 974 | V>I | No | TOPMed | |
rs372918633 | 975 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs2082871671 | 979 | E>G | No | TOPMed | |
rs2082871694 | 979 | E>K | No | TOPMed | |
rs200445273 | 980 | D>G | No |
ExAC TOPMed gnomAD |
|
rs1029964169 | 980 | D>N | No |
TOPMed gnomAD |
|
rs200445273 | 980 | D>V | No |
ExAC TOPMed gnomAD |
|
rs779771539 | 981 | I>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs771343367 | 981 | I>V | No |
ExAC gnomAD |
|
rs371434654 | 982 | S>N | No | gnomAD | |
rs2082871473 | 985 | N>S | No | TOPMed | |
rs2082871381 | 987 | A>V | No | TOPMed | |
rs1318125569 | 988 | A>D | No | TOPMed | |
rs778054496 | 988 | A>S | No |
ExAC TOPMed gnomAD |
|
rs370239153 | 989 | K>E | No |
ESP ExAC TOPMed gnomAD |
|
rs376434201 | 989 | K>N | No |
ESP ExAC TOPMed gnomAD |
|
rs2082871224 | 989 | K>T | No | TOPMed | |
rs1365452515 | 990 | V>F | No |
TOPMed gnomAD |
|
rs1225567763 | 991 | V>L | No | TOPMed | |
rs1225567763 | 991 | V>M | No | TOPMed | |
rs1262927327 | 993 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs2082871077 | 994 | A>S | No | TOPMed | |
rs1289128504 | 995 | H>R | No | TOPMed | |
TCGA novel rs2107567947 |
997 | Q>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs755135787 | 997 | Q>P | No |
ExAC gnomAD |
|
rs755135787 | 997 | Q>R | No |
ExAC gnomAD |
|
rs1190529781 | 998 | T>I | No |
TOPMed gnomAD |
|
rs1190529781 | 998 | T>N | No |
TOPMed gnomAD |
|
rs1190529781 | 998 | T>S | No |
TOPMed gnomAD |
|
rs2107567848 | 999 | L>P | No | Ensembl | |
rs202235173 | 1000 | D>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs766477573 | 1001 | D>G | No |
ExAC gnomAD |
|
rs2107567838 | 1003 | H>P | No | Ensembl | |
rs1037963328 | 1004 | M>V | No |
TOPMed gnomAD |
|
rs2082870839 | 1005 | E>K | No | TOPMed | |
rs2082870785 | 1006 | E>* | No |
TOPMed gnomAD |
|
COSM1036054 | 1006 | E>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1007 | E>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1210368147 | 1009 | L>R | No | gnomAD | |
rs1306496118 | 1010 | S>N | No | gnomAD | |
rs1322506623 | 1010 | S>R | No | TOPMed | |
rs1306496118 | 1010 | S>T | No | gnomAD | |
rs920191078 | 1013 | S>R | No | TOPMed | |
rs2082870601 | 1014 | K>N | No | TOPMed | |
rs763837928 | 1015 | A>G | No |
ExAC gnomAD |
|
rs763837928 | 1015 | A>V | No |
ExAC gnomAD |
|
rs1560366758 | 1016 | N>I | No | Ensembl | |
rs2082870331 | 1018 | K>M | No | Ensembl | |
rs2107567786 | 1018 | K>N | No | Ensembl | |
rs1365872682 | 1018 | K>Q | No | gnomAD | |
rs775372825 | 1019 | L>V | No |
ExAC TOPMed gnomAD |
|
rs201884560 | 1020 | E>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201884560 | 1020 | E>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1343924771 | 1021 | Q>* | No | gnomAD | |
rs1343924771 | 1021 | Q>E | No | gnomAD | |
rs2082870185 | 1021 | Q>R | No | Ensembl | |
rs776345232 | 1022 | Q>K | No |
ExAC gnomAD |
|
rs2082870109 | 1023 | V>I | No | Ensembl | |
COSM1036053 | 1024 | D>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs376633073 | 1025 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs1462153058 | 1026 | L>F | No |
TOPMed gnomAD |
|
rs1462153058 | 1026 | L>V | No |
TOPMed gnomAD |
|
rs367902528 | 1028 | G>A | No |
ESP ExAC TOPMed gnomAD |
|
rs1167000457 | 1028 | G>S | No |
TOPMed gnomAD |
|
rs1283823116 | 1029 | A>D | No | gnomAD | |
rs2082870732 COSM1417623 |
1029 | A>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
rs1207486197 | 1029 | A>T | No | gnomAD | |
rs1283823116 | 1029 | A>V | No | gnomAD | |
rs2082852008 | 1030 | L>F | No | Ensembl | |
rs894085846 | 1033 | E>* | No | gnomAD | |
rs2082851801 | 1033 | E>D | No | gnomAD | |
rs749554821 | 1034 | R>I | No |
ExAC TOPMed gnomAD |
|
rs780357939 | 1034 | R>S | No |
ExAC TOPMed gnomAD |
|
rs1560364383 | 1035 | K>R | No | Ensembl | |
rs200949025 | 1036 | A>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1246479721 | 1036 | A>T | No | gnomAD | |
rs200949025 | 1036 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1045390645 | 1037 | R>G | No | TOPMed | |
rs1345042590 | 1038 | M>R | No | gnomAD | |
rs1347139536 | 1038 | M>V | No | TOPMed | |
rs2082851242 | 1040 | C>* | No |
TOPMed gnomAD |
|
rs371742031 | 1040 | C>S | No | gnomAD | |
rs906671832 | 1041 | E>D | No | gnomAD | |
TCGA novel | 1041 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3584970 | 1042 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs371676709 | 1043 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1044 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs758474084 | 1045 | H>D | No |
ExAC gnomAD |
|
rs758474084 | 1045 | H>N | No |
ExAC gnomAD |
|
rs367685351 | 1046 | K>Q | No |
ESP ExAC TOPMed gnomAD |
|
COSM4830197 | 1047 | L>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3845754 | 1047 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3845753 | 1048 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2082850964 | 1049 | G>D | No |
TOPMed gnomAD |
|
rs754788223 | 1050 | N>S | No |
ExAC gnomAD |
|
COSM3914479 rs894085846 |
1053 | L>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs753535923 | 1053 | L>P | No |
ExAC gnomAD |
|
rs749554821 | 1054 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs760178988 | 1055 | R>L | No |
ExAC TOPMed gnomAD |
|
rs760178988 | 1055 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs1268054279 | 1056 | E>A | No | gnomAD | |
rs1268054279 | 1056 | E>V | No | gnomAD | |
rs1209072266 | 1058 | M>T | No |
TOPMed gnomAD |
|
rs762354812 | 1058 | M>V | No |
ExAC TOPMed gnomAD |
|
rs1323114620 | 1059 | E>K | No |
TOPMed gnomAD |
|
rs371025167 | 1060 | N>Y | No |
ESP ExAC TOPMed gnomAD |
|
rs2082850195 | 1063 | S>G | No |
TOPMed gnomAD |
|
rs2082850145 | 1064 | S>N | No | Ensembl | |
rs1242678200 | 1064 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs148843085 | 1065 | Q>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1065 | Q>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs775654821 | 1066 | R>* | No |
ExAC TOPMed gnomAD |
|
rs542819427 | 1066 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs746076141 | 1067 | H>Y | No |
ExAC TOPMed gnomAD |
|
COSM4919513 | 1068 | L>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2082849807 | 1069 | A>G | No | TOPMed | |
rs771115343 | 1069 | A>S | No |
ExAC TOPMed gnomAD |
|
rs771115343 | 1069 | A>T | No |
ExAC TOPMed gnomAD |
|
rs907796116 | 1071 | E>* | No |
TOPMed gnomAD |
|
rs907796116 | 1071 | E>K | No |
TOPMed gnomAD |
|
rs1424485261 | 1074 | K>E | No |
TOPMed gnomAD |
|
rs2082773670 | 1075 | K>* | No | gnomAD | |
rs2082773639 | 1075 | K>N | No |
TOPMed gnomAD |
|
rs201356810 | 1075 | K>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1228265579 | 1076 | E>D | No |
TOPMed gnomAD |
|
rs1276046275 COSM3845752 |
1076 | E>G | breast Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated gnomAD NCI-TCGA Cosmic |
rs2082773601 | 1076 | E>Q | No | gnomAD | |
rs2082773502 | 1077 | L>F | No | gnomAD | |
COSM3914478 | 1077 | L>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs375840214 | 1078 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
rs1576228990 | 1078 | E>Q | No | Ensembl | |
rs1449143215 | 1079 | L>M | No | gnomAD | |
rs2082773285 | 1082 | M>I | No | Ensembl | |
rs534599773 | 1082 | M>T | No |
ExAC TOPMed gnomAD |
|
rs961889513 | 1087 | E>D | No |
TOPMed gnomAD |
|
rs1404700124 | 1088 | N>S | No | gnomAD | |
rs1411488605 | 1089 | E>* | No | gnomAD | |
rs780842719 | 1091 | G>C | No |
ExAC gnomAD |
|
rs1379477255 | 1093 | V>E | No |
TOPMed gnomAD |
|
rs756842073 | 1094 | A>S | No |
ExAC gnomAD |
|
rs1227195542 | 1094 | A>V | No |
TOPMed gnomAD |
|
rs751069085 | 1095 | Q>* | No |
ExAC gnomAD |
|
rs199968089 | 1095 | Q>R | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1096 | L>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2082772763 | 1096 | L>P | No | TOPMed | |
TCGA novel | 1098 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs139487163 | 1099 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs369281600 | 1100 | V>F | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel rs2082772630 |
1100 | V>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
gnomAD NCI-TCGA |
rs777087691 | 1102 | E>D | No |
ExAC gnomAD |
|
rs765676734 | 1102 | E>K | No | ExAC | |
rs573415100 | 1103 | L>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM4856295 | 1105 | T>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs3900940 VAR_030238 |
1105 | T>A | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs3900940 | 1105 | T>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM4932326 | 1107 | I>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM4834896 | 1109 | D>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1389710892 | 1110 | L>S | No |
TOPMed gnomAD |
|
rs1309912551 | 1111 | K>N | No | TOPMed | |
rs955221115 | 1111 | K>T | No | TOPMed | |
rs1028623466 | 1112 | E>* | No | TOPMed | |
rs372228938 | 1115 | E>G | No | ESP | |
rs776471445 | 1116 | A>G | No |
ExAC TOPMed gnomAD |
|
rs759460238 | 1116 | A>T | No |
ExAC gnomAD |
|
rs2082772738 COSM4488553 |
1117 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
rs2082751262 | 1118 | R>S | No | TOPMed | |
rs2082751218 | 1119 | T>A | No | gnomAD | |
rs376230773 | 1119 | T>I | No |
ExAC TOPMed gnomAD |
|
rs1191166824 | 1120 | T>I | No | TOPMed | |
RCV000955162 rs61744539 |
1121 | R>* | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs777324136 | 1121 | R>Q | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1123 | K>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2107560367 | 1124 | M>L | No | Ensembl | |
rs1261020935 | 1124 | M>T | No | gnomAD | |
rs1310006371 | 1125 | E>K | No | gnomAD | |
rs1280163980 | 1126 | R>G | No | gnomAD | |
rs2082750626 | 1127 | E>A | No |
TOPMed gnomAD |
|
rs1159962758 | 1127 | E>Q | No | TOPMed | |
rs2082750526 | 1129 | A>D | No | Ensembl | |
COSM262216 | 1129 | A>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1130 | D>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1362382385 | 1131 | L>P | No | gnomAD | |
TCGA novel | 1132 | T>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs755610397 | 1133 | Q>* | No |
ExAC TOPMed |
|
rs755610397 | 1133 | Q>E | No |
ExAC TOPMed |
|
rs1446099713 | 1134 | D>E | No |
TOPMed gnomAD |
|
rs2082750386 | 1134 | D>G | No | Ensembl | |
rs780604345 | 1136 | A>G | No |
ExAC gnomAD |
|
rs267599528 | 1138 | L>F | No |
TOPMed gnomAD |
|
rs1388908021 | 1139 | N>K | No | gnomAD | |
rs2082750223 | 1139 | N>S | No | gnomAD | |
rs1366554743 | 1140 | E>* | No | TOPMed | |
rs1325149626 | 1141 | R>W | No | gnomAD | |
rs558561858 | 1142 | L>M | No |
ExAC TOPMed gnomAD |
|
rs558561858 | 1142 | L>V | No |
ExAC TOPMed gnomAD |
|
rs750765531 | 1143 | E>G | No |
ExAC gnomAD |
|
rs767645025 | 1144 | E>D | No |
ExAC gnomAD |
|
rs1576227736 | 1144 | E>G | No | Ensembl | |
rs747627053 | 1144 | E>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs762025709 | 1145 | V>E | No |
ExAC gnomAD |
|
rs762025709 | 1145 | V>G | No |
ExAC gnomAD |
|
COSM727413 rs1159962758 |
1147 | G>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
rs1365090289 | 1147 | G>R | No | TOPMed | |
rs367780224 | 1149 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
rs999832007 COSM200934 |
1149 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs757793524 | 1152 | Q>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
COSM3584968 | 1152 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1153 | L>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs759523336 | 1153 | L>P | No |
ExAC TOPMed gnomAD |
|
COSM3584967 | 1154 | E>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs776521999 | 1154 | E>G | No |
ExAC gnomAD |
|
rs1041348549 | 1156 | T>I | No | gnomAD | |
rs2082749621 | 1158 | K>E | No |
TOPMed gnomAD |
|
rs1311782015 | 1159 | Q>E | No | gnomAD | |
rs141309745 | 1160 | E>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs141309745 | 1160 | E>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs760486327 | 1161 | T>I | No |
ExAC TOPMed gnomAD |
|
rs760486327 | 1161 | T>N | No |
ExAC TOPMed gnomAD |
|
rs1221491720 | 1162 | K>T | No | TOPMed | |
rs1409363355 | 1163 | F>C | No | gnomAD | |
rs1409363355 | 1163 | F>S | No | gnomAD | |
rs1368776864 | 1164 | Q>L | No | gnomAD | |
rs1368776864 | 1164 | Q>R | No | gnomAD | |
rs2082749325 | 1165 | K>E | No |
TOPMed gnomAD |
|
rs765247899 | 1166 | L>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1045523804 | 1166 | L>P | No |
TOPMed gnomAD |
|
rs1368348537 | 1167 | H>N | No | gnomAD | |
rs2107560221 | 1167 | H>R | No | Ensembl | |
rs1425888536 | 1168 | R>* | No |
TOPMed gnomAD |
|
rs1419662386 | 1169 | D>N | No | gnomAD | |
rs1482490490 | 1172 | E>A | No | gnomAD | |
rs1248989110 | 1174 | T>A | No | gnomAD | |
rs1480931862 | 1175 | L>Q | No | gnomAD | |
rs768249808 | 1175 | L>V | No |
ExAC TOPMed gnomAD |
|
rs2082747001 | 1178 | E>G | No |
TOPMed gnomAD |
|
rs1386435836 | 1178 | E>K | No | gnomAD | |
rs2107560178 | 1179 | T>A | No | Ensembl | |
rs746794416 | 1179 | T>I | No |
ExAC TOPMed gnomAD |
|
rs746794416 | 1179 | T>K | No |
ExAC TOPMed gnomAD |
|
rs1347693066 | 1180 | T>A | No | TOPMed | |
rs1226352060 | 1180 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs746220980 | 1182 | A>G | No |
ExAC gnomAD |
|
rs756628630 | 1182 | A>T | No |
ExAC gnomAD |
|
rs781612328 | 1183 | S>P | No |
ExAC gnomAD |
|
rs926717023 | 1185 | K>E | No |
TOPMed gnomAD |
|
rs1055738725 | 1186 | K>E | No | TOPMed | |
rs757474471 | 1186 | K>M | No |
ExAC TOPMed gnomAD |
|
rs1392011106 | 1187 | R>G | No | gnomAD | |
rs1360108818 | 1187 | R>K | No | Ensembl | |
rs776507202 | 1188 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1287455788 | 1188 | H>R | No |
TOPMed gnomAD |
|
rs1354440888 | 1188 | H>Y | No |
TOPMed gnomAD |
|
rs1437952234 | 1189 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1470992548 | 1190 | D>H | No |
TOPMed gnomAD |
|
rs752727698 | 1190 | D>V | No |
ExAC TOPMed gnomAD |
|
rs867794998 | 1191 | S>N | No | TOPMed | |
COSM4112063 | 1192 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs979381478 | 1193 | A>V | No | Ensembl | |
rs920617781 | 1196 | E>K | No |
TOPMed gnomAD |
|
rs2082746050 | 1197 | G>A | No | Ensembl | |
rs760541250 | 1197 | G>S | No |
ExAC gnomAD |
|
rs2082746017 | 1198 | Q>* | No | TOPMed | |
rs972055713 | 1199 | V>I | No |
TOPMed gnomAD |
|
rs2082745878 | 1201 | N>K | No | Ensembl | |
rs2082745852 | 1202 | L>V | No | Ensembl | |
rs1419121317 | 1203 | Q>* | No | gnomAD | |
rs772948146 | 1203 | Q>H | No |
ExAC TOPMed |
|
rs2082745749 | 1205 | V>G | No | Ensembl | |
rs1576227505 | 1206 | K>R | No | Ensembl | |
rs1287455788 | 1208 | K>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs552849827 | 1211 | K>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs962322078 | 1213 | K>E | No | TOPMed | |
rs2107560064 | 1213 | K>R | No | Ensembl | |
rs774084626 | 1214 | S>N | No |
ExAC gnomAD |
|
COSM727415 | 1214 | S>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1207822793 | 1215 | D>H | No |
TOPMed gnomAD |
|
rs1327400879 | 1218 | L>P | No | gnomAD | |
rs1019158777 | 1219 | E>D | No | TOPMed | |
rs60283165 | 1219 | E>Q | No |
TOPMed gnomAD |
|
rs1239936980 | 1220 | V>A | No | gnomAD | |
rs573226732 | 1220 | V>L | No |
TOPMed gnomAD |
|
rs988064748 | 1221 | D>V | No | Ensembl | |
rs1443882759 | 1222 | D>E | No | TOPMed | |
rs2082745261 | 1222 | D>G | No | TOPMed | |
rs2082745290 | 1222 | D>H | No | Ensembl | |
rs866128091 | 1223 | L>F | No | TOPMed | |
COSM727416 | 1223 | L>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs953544596 | 1225 | T>A | No | Ensembl | |
rs1389038644 | 1225 | T>I | No | gnomAD | |
rs775070165 | 1226 | R>C | No |
ExAC TOPMed gnomAD |
|
rs775070165 | 1226 | R>G | No |
ExAC TOPMed gnomAD |
|
rs770487770 | 1226 | R>H | No |
ExAC TOPMed gnomAD |
|
rs2082744784 | 1227 | V>A | No | Ensembl | |
rs1386051551 | 1227 | V>L | No |
TOPMed gnomAD |
|
rs370631377 | 1229 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
rs746369043 | 1229 | Q>R | No |
ExAC gnomAD |
|
COSM3584966 | 1230 | M>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs757614231 | 1230 | M>T | No |
ExAC gnomAD |
|
rs747300219 | 1231 | T>A | No |
ExAC TOPMed gnomAD |
|
rs777995938 | 1231 | T>R | No |
ExAC gnomAD |
|
rs747300219 | 1231 | T>S | No |
ExAC TOPMed gnomAD |
|
rs2082744547 | 1233 | A>T | No | gnomAD | |
rs377694016 | 1235 | A>S | No |
ESP TOPMed gnomAD |
|
rs377694016 | 1235 | A>T | No |
ESP TOPMed gnomAD |
|
rs2082680933 | 1236 | N>K | No |
TOPMed gnomAD |
|
rs1376714406 | 1237 | A>T | No |
TOPMed gnomAD |
|
rs2082680811 | 1239 | K>R | No | TOPMed | |
rs755115200 | 1240 | L>F | No |
ExAC TOPMed gnomAD |
|
rs1226862701 | 1240 | L>P | No |
TOPMed gnomAD |
|
rs1307537910 | 1241 | C>S | No | gnomAD | |
rs753811965 | 1241 | C>Y | No |
ExAC TOPMed gnomAD |
|
rs1560344099 | 1242 | T>S | No | Ensembl | |
COSM1036050 rs2082680339 |
1243 | L>P | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
rs781200673 | 1243 | L>V | No |
ExAC gnomAD |
|
rs912925356 | 1244 | Y>* | No |
TOPMed gnomAD |
|
rs1002122178 | 1244 | Y>H | No |
TOPMed gnomAD |
|
rs201690373 | 1247 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs139021012 | 1247 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs764759782 | 1248 | L>F | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1249 | H>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs369737961 | 1249 | H>D | No |
ESP ExAC TOPMed gnomAD |
|
rs369737961 | 1249 | H>N | No |
ESP ExAC TOPMed gnomAD |
|
rs2082679786 | 1249 | H>P | No | TOPMed | |
rs369737961 | 1249 | H>Y | No |
ESP ExAC TOPMed gnomAD |
|
rs892574778 | 1252 | T>A | No |
TOPMed gnomAD |
|
rs1472326446 | 1253 | A>V | No |
TOPMed gnomAD |
|
rs2082679626 | 1254 | K>Q | No | gnomAD | |
rs1190315730 | 1256 | D>G | No | gnomAD | |
rs771476681 | 1256 | D>H | No |
ExAC gnomAD |
|
rs1460968262 | 1257 | K>E | No |
TOPMed gnomAD |
|
rs1475627315 | 1257 | K>N | No |
TOPMed gnomAD |
|
rs2082679411 | 1257 | K>T | No | TOPMed | |
TCGA novel | 1258 | V>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs530559081 | 1258 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1203063480 | 1260 | Q>* | No | gnomAD | |
rs2082679238 | 1260 | Q>L | No | TOPMed | |
rs773624503 | 1262 | A>V | No |
ExAC gnomAD |
|
rs748471051 | 1263 | N>H | No |
ExAC gnomAD |
|
rs779129105 | 1264 | D>N | No |
ExAC TOPMed gnomAD |
|
rs779129105 | 1264 | D>Y | No |
ExAC TOPMed gnomAD |
|
COSM1417619 rs1560344013 |
1265 | L>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs1313951956 | 1267 | A>P | No | Ensembl | |
rs1313951956 | 1267 | A>T | No | Ensembl | |
rs2082678945 | 1269 | K>T | No | gnomAD | |
rs2082678920 | 1270 | T>A | No | gnomAD | |
rs768700526 | 1270 | T>I | No |
ExAC gnomAD |
|
rs1355653899 | 1272 | L>R | No | gnomAD | |
rs2082678845 | 1273 | W>R | No | Ensembl | |
rs1171272569 | 1273 | W>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs548436782 | 1274 | S>G | No |
1000Genomes ExAC |
|
rs2107552082 | 1279 | F>V | No | Ensembl | |
rs372218284 | 1281 | R>L | No |
ESP ExAC gnomAD |
|
rs372218284 | 1281 | R>Q | No |
ESP ExAC gnomAD |
|
rs375553224 | 1281 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1576220227 | 1282 | R>S | No | TOPMed | |
rs1194697296 | 1284 | E>D | No | gnomAD | |
rs2082638700 | 1286 | K>Q | No | TOPMed | |
TCGA novel | 1287 | E>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs778571430 | 1287 | E>V | No |
ExAC gnomAD |
|
rs368413041 | 1288 | A>T | No |
ESP TOPMed gnomAD |
|
rs1292895525 | 1289 | L>P | No |
TOPMed gnomAD |
|
rs1218084481 | 1290 | I>M | No | gnomAD | |
rs557994087 | 1290 | I>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1318280411 | 1290 | I>V | No | gnomAD | |
rs1156575987 | 1292 | Q>R | No |
TOPMed gnomAD |
|
rs1480565646 | 1294 | S>A | No | TOPMed | |
rs2082638280 | 1294 | S>C | No | Ensembl | |
rs2082638239 | 1295 | R>G | No | Ensembl | |
rs1380182896 | 1295 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1194562270 | 1295 | R>M | No |
TOPMed gnomAD |
|
rs1194562270 | 1295 | R>T | No |
TOPMed gnomAD |
|
rs2082638138 | 1296 | E>G | No | TOPMed | |
COSM1308360 | 1296 | E>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs755026210 | 1297 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
rs1187695951 | 1297 | K>E | No |
TOPMed gnomAD |
|
rs1028801593 | 1298 | S>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1576220149 | 1299 | N>S | No | Ensembl | |
rs755642380 | 1300 | F>V | No |
ExAC gnomAD |
|
rs1416624151 | 1300 | F>Y | No | TOPMed | |
rs2082637955 | 1301 | T>I | No | Ensembl | |
rs374236023 | 1302 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
rs1433192016 | 1304 | I>M | No | gnomAD | |
rs1286832407 | 1304 | I>T | No |
TOPMed gnomAD |
|
rs538713855 | 1306 | D>N | No |
1000Genomes ExAC gnomAD |
|
rs2082637719 | 1307 | L>P | No | gnomAD | |
rs368413041 | 1308 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
rs2082637695 | 1308 | R>T | No | TOPMed | |
rs1412801804 | 1309 | G>E | No | gnomAD | |
rs2107551999 | 1309 | G>R | No | Ensembl | |
rs2082637517 | 1310 | Q>H | No | TOPMed | |
rs1174799788 | 1310 | Q>K | No |
TOPMed gnomAD |
|
rs2082637457 | 1312 | E>G | No | Ensembl | |
TCGA novel | 1312 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs775603465 | 1313 | K>R | No |
ExAC TOPMed gnomAD |
|
rs775603465 | 1313 | K>T | No |
ExAC TOPMed gnomAD |
|
rs1166087449 | 1314 | E>D | No |
TOPMed gnomAD |
|
TCGA novel | 1314 | E>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1377266671 | 1315 | T>I | No |
TOPMed gnomAD |
|
COSM3584962 | 1316 | K>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1409266128 | 1318 | Q>* | No | gnomAD | |
rs143032325 | 1320 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs143032325 | 1320 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs143032325 | 1320 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2082618454 | 1321 | L>Q | No | Ensembl | |
rs370801864 | 1322 | A>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA |
rs1462890372 | 1322 | A>V | No | gnomAD | |
rs2082618325 | 1323 | H>L | No | TOPMed | |
rs983728172 | 1323 | H>Y | No |
TOPMed gnomAD |
|
rs2082618264 | 1325 | L>V | No |
TOPMed gnomAD |
|
rs2107550478 | 1326 | Q>H | No | Ensembl | |
TCGA novel | 1326 | Q>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1036049 | 1328 | A>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1459564622 | 1328 | A>S | No | gnomAD | |
rs761850104 | 1329 | Q>* | No |
ExAC gnomAD |
|
rs774187672 | 1330 | R>C | No |
ExAC TOPMed gnomAD |
|
rs768579358 | 1330 | R>P | No |
ExAC TOPMed gnomAD |
|
rs774187672 | 1330 | R>S | No |
ExAC TOPMed gnomAD |
|
rs1178893274 | 1331 | D>A | No |
TOPMed gnomAD |
|
rs1178893274 | 1331 | D>G | No |
TOPMed gnomAD |
|
TCGA novel | 1332 | C>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs377392126 | 1332 | C>R | No |
ESP ExAC TOPMed gnomAD |
|
rs779820215 | 1332 | C>Y | No |
ExAC gnomAD |
|
COSM4112062 | 1334 | L>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2082618009 | 1334 | L>F | No | gnomAD | |
rs769492679 | 1334 | L>R | No |
ExAC gnomAD |
|
rs200052069 | 1336 | R>* | No |
ESP ExAC TOPMed gnomAD |
|
rs780716253 | 1337 | E>A | No |
ExAC gnomAD |
|
rs2082617880 | 1338 | Q>* | No | Ensembl | |
rs756789079 | 1338 | Q>H | No |
ExAC gnomAD |
|
rs546844287 | 1340 | E>A | No | Ensembl | |
rs1374753275 | 1341 | E>K | No | gnomAD | |
TCGA novel | 1342 | E>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs111313475 | 1345 | V>I | No | gnomAD | |
rs758876374 | 1347 | A>P | No |
ExAC TOPMed gnomAD |
|
rs758876374 | 1347 | A>T | No |
ExAC TOPMed gnomAD |
|
rs753074133 | 1348 | E>A | No |
ExAC gnomAD |
|
COSM1036048 rs768579358 |
1350 | H>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs1165179951 | 1350 | H>P | No | gnomAD | |
rs2082617471 | 1350 | H>Y | No | TOPMed | |
TCGA novel | 1351 | R>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs202066788 | 1351 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
rs202066788 | 1351 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs373059438 | 1351 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
rs1301703596 | 1352 | T>I | No | Ensembl | |
rs2082617282 | 1353 | L>V | No | Ensembl | |
COSM727417 | 1353 | L>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1490415576 | 1354 | S>Y | No |
TOPMed gnomAD |
|
rs2082617225 | 1355 | K>N | No | TOPMed | |
rs1456283634 | 1356 | V>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1267055483 | 1357 | N>S | No | gnomAD | |
rs2082617801 TCGA novel |
1359 | E>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs375146447 | 1360 | M>I | No |
ESP TOPMed gnomAD |
|
rs1208466700 | 1360 | M>V | No | gnomAD | |
rs891502172 | 1362 | Q>P | No |
TOPMed gnomAD |
|
rs1253934735 | 1363 | W>* | No | gnomAD | |
rs2082617021 | 1363 | W>C | No | TOPMed | |
rs1221593372 | 1364 | R>I | No |
TOPMed gnomAD |
|
rs1221593372 | 1364 | R>K | No |
TOPMed gnomAD |
|
TCGA novel | 1365 | M>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs762935140 | 1365 | M>T | No |
ExAC TOPMed gnomAD |
|
rs1002797651 | 1367 | Y>* | No |
TOPMed gnomAD |
|
rs1053167985 | 1367 | Y>C | No | Ensembl | |
rs199899076 | 1367 | Y>H | No |
TOPMed gnomAD |
|
TCGA novel | 1368 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs373333965 | 1369 | N>D | No |
ESP ExAC TOPMed gnomAD |
|
rs1239830731 | 1369 | N>T | No | gnomAD | |
rs769543583 | 1370 | N>I | No |
ExAC gnomAD |
|
rs769543583 | 1370 | N>S | No |
ExAC gnomAD |
|
rs1372197006 | 1372 | I>T | No | gnomAD | |
rs1237032832 | 1372 | I>V | No | gnomAD | |
rs1252454656 | 1374 | R>K | No | gnomAD | |
rs1320231406 | 1375 | T>I | No | gnomAD | |
TCGA novel | 1377 | D>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1382264485 | 1377 | D>V | No |
TOPMed gnomAD |
|
rs745618134 | 1378 | L>V | No |
ExAC gnomAD |
|
rs1453818274 | 1379 | E>K | No | gnomAD | |
rs888151612 | 1381 | A>T | No |
TOPMed gnomAD |
|
rs1560335288 | 1381 | A>V | No |
TOPMed gnomAD |
|
COSM727418 | 1382 | K>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs770556828 | 1382 | K>M | No |
ExAC gnomAD |
|
rs1272886772 | 1383 | K>* | No | gnomAD | |
rs1272886772 | 1383 | K>Q | No | gnomAD | |
rs2082588253 | 1383 | K>T | No | gnomAD | |
rs772650447 | 1386 | A>P | No |
ExAC gnomAD |
|
rs772650447 | 1386 | A>T | No |
ExAC gnomAD |
|
rs1227715330 | 1388 | R>* | No | gnomAD | |
rs1290954193 | 1391 | E>Q | No | gnomAD | |
rs1416054612 | 1392 | A>T | No | gnomAD | |
rs542966194 | 1393 | A>T | No |
1000Genomes ExAC gnomAD |
|
rs781352497 | 1393 | A>V | No |
ExAC TOPMed gnomAD |
|
rs780451767 | 1395 | A>D | No |
ExAC TOPMed gnomAD |
|
rs767591890 | 1396 | M>I | No |
ExAC TOPMed gnomAD |
|
rs1376759057 | 1396 | M>T | No | gnomAD | |
rs138368273 | 1396 | M>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2082587624 | 1397 | G>E | No | TOPMed | |
rs757376618 | 1397 | G>R | No |
ExAC TOPMed gnomAD |
|
rs371195676 | 1398 | V>L | No |
ExAC TOPMed gnomAD |
|
rs371195676 | 1398 | V>M | No |
ExAC TOPMed gnomAD |
|
COSM3845750 | 1399 | A>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs868809361 | 1400 | N>D | No | Ensembl | |
COSM4942169 | 1400 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs759468299 | 1400 | N>S | No |
ExAC TOPMed gnomAD |
|
rs200032613 | 1401 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs766179051 | 1402 | R>G | No |
ExAC TOPMed gnomAD |
|
rs1456831437 | 1402 | R>T | No |
TOPMed gnomAD |
|
rs1270875950 | 1403 | N>K | No | gnomAD | |
rs1333750850 | 1403 | N>S | No | gnomAD | |
rs1171234434 | 1403 | N>Y | No | gnomAD | |
rs1234654753 | 1404 | A>D | No |
TOPMed gnomAD |
|
COSM2916842 rs267599527 |
1404 | A>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs2107548194 | 1404 | A>T | No | Ensembl | |
rs985210195 | 1405 | S>A | No |
TOPMed gnomAD |
|
COSM4112061 | 1408 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2082587056 | 1409 | A>D | No | TOPMed | |
rs202050761 | 1409 | A>S | No |
ExAC TOPMed gnomAD |
|
rs202050761 | 1409 | A>T | No |
ExAC TOPMed gnomAD |
|
rs2082587056 | 1409 | A>V | No | TOPMed | |
COSM1484407 rs1310644215 |
1410 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs2082587026 | 1410 | R>K | No | TOPMed | |
TCGA novel | 1411 | H>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs771576259 | 1412 | Q>* | No |
ExAC gnomAD |
|
rs2082586895 | 1413 | L>M | No |
TOPMed gnomAD |
|
TCGA novel | 1414 | Q>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2107548162 | 1414 | Q>H | No | Ensembl | |
rs749735364 | 1414 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs2082586838 | 1415 | L>Q | No | TOPMed | |
rs1392625609 | 1416 | E>A | No | gnomAD | |
rs2107548159 | 1416 | E>K | No | Ensembl | |
rs1447490980 | 1417 | L>F | No |
TOPMed gnomAD |
|
rs116812035 | 1418 | G>E | No | 1000Genomes | |
rs368538771 | 1418 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
rs368538771 | 1418 | G>W | No |
ESP ExAC TOPMed gnomAD |
|
rs769342956 | 1419 | D>H | No |
ExAC TOPMed gnomAD |
|
rs769342956 | 1419 | D>N | No |
ExAC TOPMed gnomAD |
|
rs1560331467 | 1420 | A>V | No | TOPMed | |
rs371874774 | 1422 | S>P | No |
ESP ExAC TOPMed gnomAD |
|
rs1576216173 | 1423 | D>A | No | Ensembl | |
rs894730283 | 1424 | L>F | No | TOPMed | |
rs2082586360 | 1424 | L>R | No | TOPMed | |
rs368421301 | 1425 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs368421301 | 1425 | G>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs374123168 | 1427 | V>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1428 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs367795542 | 1428 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs760289290 | 1428 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1368518788 | 1429 | S>P | No | gnomAD | |
rs2082586096 | 1430 | A>V | No | Ensembl | |
rs2082586026 | 1433 | R>K | No | Ensembl | |
rs572542760 | 1434 | L>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2107548089 | 1434 | L>P | No | Ensembl | |
rs768249620 | 1438 | Q>E | No |
ExAC TOPMed gnomAD |
|
rs768249620 | 1438 | Q>K | No |
ExAC TOPMed gnomAD |
|
rs2082585814 | 1439 | L>R | No | gnomAD | |
rs376553191 | 1440 | Q>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1420598901 | 1443 | K>R | No | TOPMed | |
rs770137501 | 1444 | A>G | No |
ExAC TOPMed gnomAD |
|
rs770137501 | 1444 | A>V | No |
ExAC TOPMed gnomAD |
|
rs2082585614 | 1445 | L>P | No | TOPMed | |
rs746244616 | 1446 | A>T | No |
ExAC gnomAD |
|
COSM75513 | 1447 | D>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
VAR_046376 RCV000963823 rs1078456 |
1447 | D>N | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1414594733 | 1448 | W>* | No | gnomAD | |
rs780642878 | 1448 | W>* | No | Ensembl | |
rs370569963 COSM3584960 |
1448 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs367795542 COSM4112060 |
1448 | W>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM445264 | 1448 | W>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs747213332 | 1449 | K>E | No |
ExAC TOPMed gnomAD |
|
rs747213332 | 1449 | K>Q | No |
ExAC TOPMed gnomAD |
|
rs777874794 | 1450 | Q>* | No |
ExAC gnomAD |
|
rs758508554 | 1451 | K>R | No |
ExAC TOPMed gnomAD |
|
rs1210090412 | 1452 | H>P | No | gnomAD | |
rs1219568383 | 1453 | E>D | No | gnomAD | |
rs370933466 | 1453 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs767396705 | 1454 | E>D | No |
ExAC TOPMed gnomAD |
|
rs755940003 | 1454 | E>G | No |
ExAC TOPMed gnomAD |
|
rs1433077539 | 1455 | S>T | No | gnomAD | |
TCGA novel rs2082584847 |
1455 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
gnomAD NCI-TCGA |
rs761597478 | 1456 | Q>* | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1456 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs763787418 | 1457 | A>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs377336538 | 1457 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
rs774793459 | 1460 | D>G | No |
ExAC gnomAD |
|
rs2082584447 | 1460 | D>Y | No | TOPMed | |
COSM419466 | 1461 | A>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2082584364 | 1461 | A>T | No | Ensembl | |
rs770397276 | 1462 | S>C | No |
ExAC gnomAD |
|
rs770397276 | 1462 | S>F | No |
ExAC gnomAD |
|
rs2082584255 | 1463 | Q>* | No | TOPMed | |
COSM397217 rs776083168 |
1464 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs2082584112 | 1466 | V>G | No | TOPMed | |
rs2107547976 | 1466 | V>I | No | Ensembl | |
rs2082584022 | 1468 | A>G | No | Ensembl | |
rs1438341493 | 1468 | A>T | No |
TOPMed gnomAD |
|
rs752487450 | 1470 | S>R | No |
TOPMed gnomAD |
|
rs370933466 | 1473 | L>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs2107547956 | 1475 | K>E | No | Ensembl | |
COSM3584959 | 1475 | K>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs759950008 | 1476 | L>V | No |
ExAC TOPMed gnomAD |
|
rs1382006987 | 1477 | K>N | No | TOPMed | |
rs771258799 | 1477 | K>R | No |
ExAC gnomAD |
|
rs763787418 | 1477 | K>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1440550641 | 1479 | T>I | No | TOPMed | |
rs747338176 | 1480 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs2082583401 | 1480 | Y>D | No |
TOPMed gnomAD |
|
rs1270553658 | 1481 | E>K | No | gnomAD | |
rs1158282074 | 1482 | E>D | No | TOPMed | |
COSM445263 rs2107547981 |
1483 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs1341319382 | 1484 | I>V | No | gnomAD | |
rs2082582937 | 1485 | V>A | No | Ensembl | |
COSM3584958 | 1485 | V>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs200554722 | 1485 | V>L | No |
ExAC TOPMed gnomAD |
|
rs200554722 | 1485 | V>M | No |
ExAC TOPMed gnomAD |
|
rs369183075 | 1486 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
COSM6162796 | 1487 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1461860635 | 1487 | Q>R | No | gnomAD | |
rs1435008713 | 1488 | E>K | No |
TOPMed gnomAD |
|
rs925048760 | 1489 | T>A | No |
TOPMed gnomAD |
|
COSM1417616 | 1489 | T>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs925048760 | 1489 | T>S | No |
TOPMed gnomAD |
|
rs1353132762 | 1490 | L>H | No |
TOPMed gnomAD |
|
rs781234433 | 1491 | R>G | No |
ExAC TOPMed gnomAD |
|
rs781234433 | 1491 | R>W | No |
ExAC TOPMed gnomAD |
|
rs1240335586 | 1492 | R>M | No |
TOPMed gnomAD |
|
TCGA novel | 1492 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs757140894 | 1493 | E>K | No |
ExAC TOPMed gnomAD |
|
rs1276596924 | 1494 | N>S | No |
TOPMed gnomAD |
|
rs979203030 | 1495 | K>R | No |
TOPMed gnomAD |
|
rs751338053 | 1496 | N>Y | No |
ExAC TOPMed gnomAD |
|
COSM1036047 | 1497 | L>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs745415744 | 1498 | Q>R | No |
TOPMed gnomAD |
|
TCGA novel | 1502 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs558321309 | 1502 | S>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs372774335 | 1503 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
rs753287606 | 1507 | Q>* | No |
1000Genomes ExAC gnomAD |
|
rs1321203717 | 1509 | R>K | No | TOPMed | |
rs1321203717 | 1509 | R>T | No | TOPMed | |
rs761166970 | 1510 | E>D | No |
ExAC gnomAD |
|
TCGA novel | 1510 | E>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1343431349 | 1512 | T>S | No | gnomAD | |
rs1160387619 | 1515 | L>* | No | gnomAD | |
rs767741062 | 1516 | T>A | No |
ExAC gnomAD |
|
rs199782617 | 1516 | T>I | No |
ExAC TOPMed gnomAD |
|
rs199782617 | 1516 | T>N | No |
ExAC TOPMed gnomAD |
|
rs1435167074 | 1520 | K>E | No | gnomAD | |
rs768865349 | 1520 | K>N | No |
ExAC TOPMed gnomAD |
|
rs1472766675 | 1521 | V>F | No |
TOPMed gnomAD |
|
rs1472766675 COSM4929450 |
1521 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
TOPMed gnomAD NCI-TCGA Cosmic |
TCGA novel | 1521 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs900443265 | 1522 | K>N | No |
TOPMed gnomAD |
|
rs1033473783 | 1522 | K>R | No |
TOPMed gnomAD |
|
rs1195459776 | 1524 | L>P | No |
TOPMed gnomAD |
|
rs749378700 | 1525 | I>N | No | ExAC | |
rs749378700 | 1525 | I>T | No | ExAC | |
rs1347742774 | 1528 | E>G | No | gnomAD | |
rs771047749 | 1529 | K>E | No |
ExAC TOPMed gnomAD |
|
rs2082561585 | 1531 | E>* | No | Ensembl | |
rs2082561585 | 1531 | E>Q | No | Ensembl | |
rs967907047 | 1532 | V>F | No |
TOPMed gnomAD |
|
rs967907047 | 1532 | V>I | No |
TOPMed gnomAD |
|
rs2082561525 | 1533 | Q>E | No | TOPMed | |
RCV000998120 rs1332521067 |
1533 | Q>H | No |
ClinVar dbSNP gnomAD |
|
rs758161683 | 1534 | V>A | No |
ExAC gnomAD |
|
rs2082561470 | 1534 | V>M | No | TOPMed | |
rs1381236156 | 1535 | T>A | No | gnomAD | |
rs1381236156 | 1535 | T>S | No | gnomAD | |
rs2082561324 | 1539 | T>A | No | Ensembl | |
rs2082561275 | 1540 | E>G | No | Ensembl | |
rs1576214333 | 1540 | E>K | No |
TOPMed gnomAD |
|
rs759650578 | 1542 | A>D | No |
ExAC TOPMed gnomAD |
|
rs747904706 | 1545 | R>H | No |
ExAC TOPMed gnomAD |
|
rs747904706 | 1545 | R>L | No |
ExAC TOPMed gnomAD |
|
rs200741935 | 1545 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
rs1193912770 | 1546 | N>S | No |
TOPMed gnomAD |
|
TCGA novel | 1547 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1402675031 | 1548 | S>N | No |
TOPMed gnomAD |
|
rs1167068280 | 1548 | S>R | No |
1000Genomes gnomAD |
|
rs868715468 | 1551 | L>F | No | gnomAD | |
rs2082539305 | 1552 | H>R | No | TOPMed | |
COSM3584956 | 1553 | F>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2082539273 | 1554 | Q>* | No | gnomAD | |
rs778768191 | 1559 | E>D | No |
ExAC gnomAD |
|
rs2082539249 | 1559 | E>Q | No | Ensembl | |
TCGA novel | 1560 | A>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1255409643 | 1560 | A>T | No | gnomAD | |
rs371486534 | 1560 | A>V | No |
ESP ExAC gnomAD |
|
rs2082539158 | 1561 | K>N | No | gnomAD | |
rs530022684 | 1563 | E>G | No |
ExAC TOPMed gnomAD |
|
rs200741935 COSM1036046 |
1565 | E>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1250293917 | 1565 | E>G | No | gnomAD | |
rs1025284099 | 1568 | L>F | No |
TOPMed gnomAD |
|
rs1315730279 | 1570 | E>K | No | gnomAD | |
rs559291875 | 1571 | K>E | No | Ensembl | |
rs779639902 | 1572 | D>N | No |
ExAC gnomAD |
|
rs1333546119 | 1573 | E>V | No | gnomAD | |
TCGA novel | 1575 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM727420 | 1575 | I>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1246944831 | 1575 | I>M | No |
TOPMed gnomAD |
|
rs2082538624 | 1576 | E>K | No | TOPMed | |
rs749874957 | 1578 | F>L | No |
ExAC TOPMed gnomAD |
|
rs2082538510 | 1579 | R>M | No | gnomAD | |
rs1442039698 | 1580 | R>K | No | gnomAD | |
rs1442039698 | 1580 | R>T | No | gnomAD | |
rs1381354737 | 1581 | K>E | No | gnomAD | |
rs1193369139 | 1581 | K>T | No | gnomAD | |
rs1453475365 | 1582 | Q>* | No |
TOPMed gnomAD |
|
rs1453475365 | 1582 | Q>K | No |
TOPMed gnomAD |
|
COSM1036045 | 1583 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1307270266 | 1584 | C>R | No |
TOPMed gnomAD |
|
rs2082486776 | 1585 | T>N | No | gnomAD | |
COSM3914475 rs1194402426 |
1586 | I>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs199960886 | 1586 | I>T | No |
ExAC TOPMed gnomAD |
|
rs768410828 | 1587 | D>N | No |
ExAC gnomAD |
|
rs1226104113 | 1588 | S>Y | No |
TOPMed gnomAD |
|
rs779691599 | 1590 | Q>* | No |
ExAC TOPMed gnomAD |
|
rs779691599 | 1590 | Q>K | No |
ExAC TOPMed gnomAD |
|
rs769365824 | 1590 | Q>L | No |
ExAC TOPMed gnomAD |
|
rs1355715908 | 1591 | S>C | No | gnomAD | |
rs2107541094 | 1591 | S>P | No | Ensembl | |
rs1286524347 | 1592 | S>N | No |
TOPMed gnomAD |
|
rs746834075 | 1594 | D>A | No |
ExAC TOPMed gnomAD |
|
rs2082486491 | 1594 | D>F | No | Ensembl | |
COSM1036044 | 1596 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs957547956 | 1597 | A>G | No | Ensembl | |
COSM1036043 | 1597 | A>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1036042 | 1598 | K>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1177991578 | 1598 | K>E | No |
TOPMed gnomAD |
|
rs1305033001 | 1598 | K>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1250147372 | 1599 | S>G | No | TOPMed | |
rs1365823809 | 1599 | S>N | No | gnomAD | |
TCGA novel | 1599 | S>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs780739948 | 1604 | T>I | No |
ExAC TOPMed gnomAD |
|
rs747517918 | 1605 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs757752612 | 1605 | R>W | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1606 | L>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2082486197 | 1606 | L>Q | No | Ensembl | |
rs758857596 | 1608 | K>N | No |
ExAC TOPMed gnomAD |
|
rs1173470254 | 1609 | K>R | No |
TOPMed gnomAD |
|
rs368978117 | 1610 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
rs919775943 | 1612 | E>A | No | TOPMed | |
rs1169706408 | 1612 | E>D | No | gnomAD | |
rs1024468519 | 1613 | D>N | No | TOPMed | |
rs376603685 | 1613 | D>V | No |
ESP ExAC gnomAD |
|
TCGA novel | 1614 | L>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs372576258 | 1615 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
rs201556869 | 1617 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
rs1576208641 | 1619 | L>F | No | TOPMed | |
rs1286628474 | 1620 | Q>H | No | gnomAD | |
COSM4112059 | 1621 | L>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1191689121 | 1621 | L>V | No |
TOPMed gnomAD |
|
rs1490905200 | 1623 | C>* | No | gnomAD | |
rs1209972324 | 1624 | A>D | No |
TOPMed gnomAD |
|
rs1310220313 | 1625 | N>H | No |
TOPMed gnomAD |
|
rs766463242 | 1625 | N>S | No |
ExAC gnomAD |
|
rs774364586 | 1626 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs761699091 | 1626 | R>W | No |
ExAC TOPMed gnomAD |
|
rs1576208608 | 1628 | V>G | No | Ensembl | |
rs763958814 | 1628 | V>L | No |
ExAC TOPMed gnomAD |
|
rs1401913242 | 1629 | S>* | No |
TOPMed gnomAD |
|
rs775256596 | 1630 | E>K | No |
ExAC gnomAD |
|
rs775256596 | 1630 | E>Q | No |
ExAC gnomAD |
|
rs2082485266 | 1631 | A>E | No | TOPMed | |
COSM3584955 | 1631 | A>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs187218353 | 1634 | S>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs187218353 | 1634 | S>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1177191360 | 1638 | L>I | No | gnomAD | |
rs1418321575 | 1639 | Q>H | No | gnomAD | |
rs746457416 | 1639 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs2107540987 | 1640 | I>L | No | Ensembl | |
rs888294046 | 1643 | K>N | No | gnomAD | |
COSM1130382 | 1643 | K>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs772767610 | 1645 | L>F | No |
ExAC gnomAD |
|
rs748647507 | 1645 | L>H | No |
ExAC TOPMed gnomAD |
|
rs2082482542 | 1647 | M>V | No | Ensembl | |
rs1409447903 | 1649 | L>Q | No | Ensembl | |
rs1223649976 | 1650 | D>E | No |
TOPMed gnomAD |
|
rs201940859 | 1651 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs981779706 | 1651 | D>G | No |
TOPMed gnomAD |
|
rs769098475 | 1652 | S>N | No |
ExAC TOPMed gnomAD |
|
rs769098475 | 1652 | S>T | No |
ExAC TOPMed gnomAD |
|
rs1442792908 | 1654 | Q>* | No |
TOPMed gnomAD |
|
COSM1036041 | 1654 | Q>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs749555644 | 1656 | N>D | No |
ExAC gnomAD |
|
rs780325073 | 1657 | S>G | No |
ExAC gnomAD |
|
COSM3584954 | 1661 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs376922583 | 1662 | Q>E | No |
ESP ExAC TOPMed gnomAD |
|
rs1165414478 | 1665 | V>L | No |
TOPMed gnomAD |
|
rs1165414478 | 1665 | V>M | No |
TOPMed gnomAD |
|
rs1426187801 | 1667 | E>K | No |
TOPMed gnomAD |
|
rs758371116 | 1668 | R>W | No |
ExAC TOPMed gnomAD |
|
rs76478083 RCV000970923 |
1669 | R>C | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs76478083 | 1669 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs765108967 | 1669 | R>H | No |
ExAC TOPMed gnomAD |
|
rs765108967 | 1669 | R>L | No |
ExAC TOPMed gnomAD |
|
COSM479192 | 1670 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3584953 | 1670 | N>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs900963129 | 1671 | S>C | No | Ensembl | |
rs900963129 | 1671 | S>F | No | Ensembl | |
rs759391413 | 1672 | L>F | No |
ExAC TOPMed gnomAD |
|
rs759391413 | 1672 | L>I | No |
ExAC TOPMed gnomAD |
|
rs1189613677 | 1674 | Q>P | No |
TOPMed gnomAD |
|
rs1560317075 COSM4550555 |
1678 | E>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs766123249 | 1679 | D>A | No |
ExAC TOPMed gnomAD |
|
rs756282159 COSM1417614 |
1679 | D>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
COSM3584952 | 1681 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs760232088 | 1681 | R>S | No |
ExAC gnomAD |
|
rs2082481493 | 1681 | R>T | No | TOPMed | |
rs2082481404 | 1684 | Q>K | No | Ensembl | |
rs550107506 | 1684 | Q>R | No |
ExAC gnomAD |
|
rs761370381 | 1685 | E>K | No |
ExAC TOPMed gnomAD |
|
rs369988310 | 1686 | Q>* | No |
ESP ExAC TOPMed gnomAD |
|
rs2082481264 | 1686 | Q>H | No | Ensembl | |
rs2082481232 | 1687 | T>I | No | TOPMed | |
rs2082481185 | 1688 | E>D | No | TOPMed | |
rs1384658269 | 1688 | E>G | No | gnomAD | |
COSM1417613 rs368123037 |
1688 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs537723723 | 1689 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs537723723 | 1689 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs764524701 | 1691 | R>C | No |
ExAC TOPMed gnomAD |
|
rs372228730 | 1691 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs372228730 | 1691 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2082480912 | 1695 | E>A | No |
TOPMed gnomAD |
|
rs1560316858 | 1695 | E>K | No | Ensembl | |
rs1196252569 | 1697 | E>D | No | gnomAD | |
rs369223108 | 1700 | E>D | No |
ESP ExAC gnomAD |
|
rs1420075428 | 1700 | E>G | No | gnomAD | |
rs1576208222 | 1701 | A>V | No | Ensembl | |
rs1403454236 | 1702 | T>I | No |
TOPMed gnomAD |
|
rs2082480652 | 1703 | E>Q | No |
TOPMed gnomAD |
|
rs2082481404 COSM3357628 |
1704 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs891088990 | 1704 | R>K | No |
TOPMed gnomAD |
|
rs1435075475 | 1705 | I>V | No | gnomAD | |
rs757349603 | 1706 | N>S | No |
ExAC gnomAD |
|
TCGA novel | 1707 | L>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs751582439 | 1708 | F>L | No |
ExAC gnomAD |
|
rs1409476513 | 1709 | Y>C | No |
TOPMed gnomAD |
|
rs377115294 COSM1036040 |
1709 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs778917137 | 1710 | T>I | No |
ExAC TOPMed gnomAD |
|
rs1265973860 | 1711 | Q>K | No |
TOPMed gnomAD |
|
rs1217910012 | 1711 | Q>R | No | gnomAD | |
rs777701757 | 1712 | N>D | No |
ExAC gnomAD |
|
rs754992429 | 1712 | N>S | No |
ExAC gnomAD |
|
rs2082441848 | 1713 | T>A | No | Ensembl | |
rs749153098 | 1714 | S>G | No |
ExAC gnomAD |
|
rs1219203790 | 1714 | S>N | No |
TOPMed gnomAD |
|
rs755997920 | 1715 | L>F | No |
ExAC TOPMed gnomAD |
|
COSM3584949 | 1716 | L>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1402567456 | 1717 | S>I | No | gnomAD | |
rs2082441653 | 1718 | Q>* | No | TOPMed | |
TCGA novel | 1718 | Q>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs756953705 | 1718 | Q>H | No |
ExAC gnomAD |
|
rs566783911 | 1718 | Q>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs566783911 | 1718 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1402586815 | 1719 | K>R | No |
TOPMed gnomAD |
|
COSM1417612 rs891088990 |
1724 | A>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
COSM6095829 rs891088990 |
1724 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs1472787731 | 1724 | A>V | No | gnomAD | |
rs199685285 | 1725 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
rs1190129868 | 1726 | V>I | No | gnomAD | |
rs763478257 | 1727 | A>S | No |
ExAC TOPMed gnomAD |
|
TCGA novel rs56118396 |
1728 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA 1000Genomes ESP ExAC TOPMed gnomAD |
RCV000954610 rs56118396 |
1728 | R>Q | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs762484892 | 1728 | R>W | No |
ExAC TOPMed gnomAD |
|
rs1488242419 | 1729 | M>V | No | TOPMed | |
rs1456140961 | 1730 | Q>* | No | gnomAD | |
rs765715704 | 1730 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs1271456362 | 1731 | K>E | No |
TOPMed gnomAD |
|
rs1560311882 | 1731 | K>R | No | gnomAD | |
rs2082441096 | 1732 | E>K | No |
TOPMed gnomAD |
|
rs1355641609 | 1733 | A>G | No | gnomAD | |
rs748625019 | 1733 | A>T | No |
TOPMed gnomAD |
|
rs1355641609 | 1733 | A>V | No | gnomAD | |
rs2082440988 | 1734 | E>D | No | TOPMed | |
rs1023483846 | 1734 | E>Q | No | Ensembl | |
rs914390358 | 1735 | E>Q | No | Ensembl | |
rs759899590 | 1736 | V>M | No |
ExAC TOPMed gnomAD |
|
rs539212121 | 1738 | Q>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1308209819 | 1739 | E>Q | No | gnomAD | |
COSM289728 | 1740 | C>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2082440805 | 1740 | C>S | No | gnomAD | |
rs1444895313 | 1743 | A>T | No |
TOPMed gnomAD |
|
TCGA novel | 1744 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs377291770 | 1745 | E>K | No | Ensembl | |
rs771201540 | 1748 | K>E | No |
ExAC TOPMed gnomAD |
|
rs570321819 | 1750 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs570321819 | 1750 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs773384843 | 1752 | I>F | No |
ExAC TOPMed gnomAD |
|
TCGA novel rs2082441096 |
1752 | I>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs372356011 | 1752 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
rs773384843 | 1752 | I>V | No |
ExAC TOPMed gnomAD |
|
rs2082425470 | 1754 | A>E | No | gnomAD | |
COSM445262 | 1754 | A>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs745764881 | 1754 | A>T | No |
ExAC gnomAD |
|
rs1012454161 | 1756 | N>I | No | gnomAD | |
rs1450211542 | 1760 | E>K | No | TOPMed | |
rs1313233236 | 1762 | K>E | No | TOPMed | |
rs770871970 | 1763 | K>R | No |
ExAC gnomAD |
|
rs770871970 | 1763 | K>T | No |
ExAC gnomAD |
|
TCGA novel | 1764 | K>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs376429464 | 1764 | K>Q | No |
ExAC TOPMed gnomAD |
|
rs2082425227 | 1766 | D>A | No | Ensembl | |
rs2082425197 | 1767 | T>I | No | Ensembl | |
rs2082425168 | 1768 | I>V | No | TOPMed | |
rs758063978 | 1769 | A>S | No |
ExAC gnomAD |
|
rs758063978 | 1769 | A>T | No |
ExAC gnomAD |
|
rs1388584907 | 1770 | H>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
COSM4893256 | 1770 | H>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs778372674 | 1770 | H>Y | No |
ExAC TOPMed gnomAD |
|
rs758293096 | 1771 | L>V | No |
ExAC gnomAD |
|
rs139977838 | 1773 | R>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs553524264 | 1775 | R>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs760962927 | 1777 | N>H | No |
ExAC TOPMed gnomAD |
|
rs767687880 | 1778 | M>T | No |
ExAC gnomAD |
|
rs144095279 | 1778 | M>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1779 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2107536122 | 1780 | Q>H | No | Ensembl | |
rs1001246772 | 1780 | Q>K | No |
TOPMed gnomAD |
|
rs1480479864 | 1780 | Q>R | No |
TOPMed gnomAD |
|
rs1484867151 | 1781 | T>A | No |
TOPMed gnomAD |
|
rs376222726 | 1781 | T>K | No |
ESP ExAC gnomAD |
|
rs2082424723 | 1782 | I>V | No |
TOPMed gnomAD |
|
rs2082424694 | 1783 | T>I | No |
TOPMed gnomAD |
|
rs2082424604 | 1786 | Q>E | No | Ensembl | |
rs1489205410 | 1786 | Q>H | No | gnomAD | |
rs1191442855 | 1786 | Q>R | No |
TOPMed gnomAD |
|
rs1160215544 | 1787 | K>Q | No |
TOPMed gnomAD |
|
rs2082424450 | 1788 | R>S | No | TOPMed | |
rs752209256 COSM6095830 |
1789 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs1475571835 | 1789 | L>V | No |
TOPMed gnomAD |
|
rs774608324 | 1792 | A>G | No |
ExAC TOPMed gnomAD |
|
rs1166805441 | 1792 | A>P | No |
TOPMed gnomAD |
|
TCGA novel rs2107536142 |
1793 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs1436483207 | 1794 | Q>H | No |
TOPMed gnomAD |
|
TCGA novel rs2082424317 |
1795 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
TCGA novel | 1795 | M>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM460961 | 1796 | A>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs746844591 | 1798 | M>V | No |
ExAC TOPMed gnomAD |
|
rs2082424173 | 1799 | G>E | No | TOPMed | |
rs777612139 | 1799 | G>R | No |
ExAC TOPMed gnomAD |
|
rs1284039673 | 1802 | K>Q | No | gnomAD | |
rs1446277621 | 1803 | Q>K | No | gnomAD | |
rs2082424064 | 1807 | L>Q | No | TOPMed | |
rs200687966 | 1807 | L>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs747807566 | 1809 | S>T | No |
ExAC TOPMed gnomAD |
|
rs778499172 | 1810 | R>S | No |
ExAC TOPMed gnomAD |
|
COSM3584946 | 1810 | R>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1370216187 | 1811 | V>D | No |
TOPMed gnomAD |
|
rs757653082 | 1812 | R>G | No |
ExAC TOPMed gnomAD |
|
rs751904357 | 1812 | R>H | No |
ExAC TOPMed gnomAD |
|
rs143417195 | 1813 | E>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs143417195 | 1813 | E>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs752875083 | 1816 | G>S | No |
ExAC TOPMed gnomAD |
|
rs763076926 | 1816 | G>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
COSM4893372 rs2107536069 |
1818 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs2082404701 | 1819 | E>D | No |
TOPMed gnomAD |
|
rs1309085513 | 1819 | E>Q | No | TOPMed | |
rs759496300 | 1823 | R>H | No |
ExAC TOPMed gnomAD |
|
rs186001749 | 1824 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs767302033 | 1824 | R>L | No |
ExAC TOPMed gnomAD |
|
rs540997456 | 1825 | S>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs540997456 | 1825 | S>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1378191227 | 1825 | S>T | No |
TOPMed gnomAD |
|
rs2082403628 | 1827 | E>G | No | TOPMed | |
rs1161579210 | 1827 | E>K | No | gnomAD | |
rs1161579210 | 1827 | E>Q | No | gnomAD | |
TCGA novel | 1829 | Q>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs768359376 | 1830 | R>K | No |
ExAC gnomAD |
|
COSM445261 rs757653082 |
1832 | A>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
COSM727421 | 1832 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1832 | A>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1266807318 | 1832 | A>P | No |
TOPMed gnomAD |
|
rs372963200 | 1833 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
rs372963200 COSM5708413 |
1833 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD NCI-TCGA Cosmic |
rs201084859 | 1833 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201084859 | 1833 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs375021950 | 1834 | R>K | No |
ESP ExAC TOPMed gnomAD |
|
RCV000889553 rs61745216 |
1835 | L>F | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1317116761 | 1836 | E>G | No | gnomAD | |
rs1240796703 | 1836 | E>K | No |
TOPMed gnomAD |
|
rs545685374 | 1837 | R>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs956633840 | 1838 | C>S | No |
TOPMed gnomAD |
|
rs752999805 | 1839 | I>V | No |
ExAC gnomAD |
|
rs1576202316 | 1840 | K>* | No | Ensembl | |
rs2082404680 COSM3584945 |
1840 | K>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs1576202316 | 1840 | K>E | No | Ensembl | |
rs1367227451 | 1840 | K>T | No |
TOPMed gnomAD |
|
rs765329028 COSM222001 |
1843 | T>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
COSM1417611 rs767302033 |
1844 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs756008161 | 1845 | Q>* | No | TOPMed | |
rs896106956 | 1845 | Q>H | No |
TOPMed gnomAD |
|
rs755102483 | 1845 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs1462351503 | 1846 | A>V | No |
TOPMed gnomAD |
|
COSM6095831 | 1847 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1483014754 | 1849 | D>G | No |
TOPMed gnomAD |
|
rs1263272406 | 1849 | D>H | No |
TOPMed gnomAD |
|
rs1263272406 | 1849 | D>Y | No |
TOPMed gnomAD |
|
rs2082369159 | 1850 | K>M | No | TOPMed | |
rs2082369144 | 1851 | K>Q | No |
TOPMed gnomAD |
|
rs755153026 | 1852 | N>S | No |
ExAC TOPMed |
|
COSM3584943 rs1266807318 |
1852 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs1189524287 | 1852 | N>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs779979246 | 1853 | L>Q | No |
ExAC gnomAD |
|
rs754012561 | 1853 | L>V | No |
ExAC gnomAD |
|
rs1560302306 | 1856 | M>I | No | Ensembl | |
rs973798055 | 1856 | M>L | No |
TOPMed gnomAD |
|
rs1261432997 | 1856 | M>T | No | gnomAD | |
rs374175389 | 1857 | Q>H | No |
ESP ExAC gnomAD |
|
rs1170561820 | 1857 | Q>K | No | TOPMed | |
rs576556260 | 1857 | Q>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
rs751516410 | 1858 | T>A | No |
ExAC gnomAD |
|
rs1286990597 | 1859 | Q>E | No | Ensembl | |
rs1422195993 | 1860 | M>I | No |
TOPMed gnomAD |
|
rs763959028 | 1860 | M>K | No |
ExAC gnomAD |
|
rs1002120484 | 1860 | M>L | No | gnomAD | |
rs1002120484 | 1860 | M>V | No | gnomAD | |
rs2082368657 | 1861 | D>G | No | TOPMed | |
rs2082368690 | 1861 | D>H | No | gnomAD | |
COSM1327130 | 1863 | L>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM4847493 | 1865 | L>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1576199706 | 1866 | K>Q | No | Ensembl | |
rs762738180 | 1867 | V>M | No |
ExAC gnomAD |
|
rs752428375 | 1868 | Q>* | No |
ExAC TOPMed gnomAD |
|
rs1169023362 | 1868 | Q>H | No |
TOPMed gnomAD |
|
rs771645089 | 1871 | K>Q | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1871 | K>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1367125059 | 1871 | K>N | No |
TOPMed gnomAD |
|
rs2082368389 | 1872 | Q>* | No | gnomAD | |
rs759088952 | 1872 | Q>H | No |
ExAC gnomAD |
|
rs1265430678 | 1872 | Q>P | No | gnomAD | |
rs2082368251 | 1873 | Q>E | No | TOPMed | |
rs1265376001 | 1874 | V>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs370570528 | 1875 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs370570528 | 1875 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs773872034 | 1876 | V>E | No |
ExAC gnomAD |
|
rs773872034 | 1876 | V>G | No |
ExAC gnomAD |
|
rs772642933 | 1877 | A>S | No |
ExAC gnomAD |
|
rs747814109 | 1877 | A>V | No |
ExAC TOPMed gnomAD |
|
rs770049114 | 1878 | E>* | No | ExAC | |
rs1553761684 | 1878 | E>G | No | Ensembl | |
TCGA novel | 1879 | T>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs746058501 | 1879 | T>K | No |
ExAC gnomAD |
|
rs78006088 | 1880 | Q>* | No |
ExAC gnomAD |
|
rs78006088 | 1880 | Q>K | No |
ExAC gnomAD |
|
rs747054348 | 1880 | Q>R | No | ExAC | |
rs768636537 | 1881 | A>P | No |
ExAC gnomAD |
|
rs768636537 | 1881 | A>S | No |
ExAC gnomAD |
|
rs768636537 | 1881 | A>T | No |
ExAC gnomAD |
|
rs749155812 | 1881 | A>V | No | ExAC | |
rs2082360183 | 1882 | N>K | No | Ensembl | |
rs1576198819 | 1882 | N>S | No | TOPMed | |
rs779976121 | 1883 | Q>K | No | ExAC | |
rs2082360104 | 1886 | S>C | No | gnomAD | |
rs1398652270 | 1887 | K>R | No | gnomAD | |
rs1459499591 | 1888 | Y>H | No | gnomAD | |
rs369307732 | 1892 | Q>* | No |
ESP ExAC TOPMed gnomAD |
|
rs1477417578 | 1892 | Q>P | No | gnomAD | |
rs1479201910 | 1893 | H>R | No | TOPMed | |
rs2082359856 | 1895 | L>F | No | Ensembl | |
rs1426531776 | 1897 | E>* | No | gnomAD | |
rs201882141 | 1897 | E>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
rs1201545211 | 1897 | E>G | No |
TOPMed gnomAD |
|
COSM3914472 rs770049114 |
1898 | V>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA |
rs2082359792 | 1899 | K>T | No | TOPMed | |
rs1016823703 | 1900 | E>D | No | TOPMed | |
rs2082359753 | 1900 | E>K | No | TOPMed | |
rs780834351 | 1901 | R>G | No |
ExAC gnomAD |
|
rs2107530959 | 1902 | A>E | No | Ensembl | |
COSM1308358 | 1903 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs559813965 | 1903 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs756722476 | 1903 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs2082359580 | 1905 | A>S | No | Ensembl | |
TCGA novel | 1907 | S>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1321534000 | 1908 | Q>R | No | gnomAD | |
rs764564051 | 1909 | V>I | No |
ExAC gnomAD |
|
rs764564051 | 1909 | V>L | No |
ExAC gnomAD |
|
TCGA novel | 1909 | V>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs199682590 | 1910 | N>S | No |
ExAC TOPMed gnomAD |
|
rs1400821039 | 1913 | K>E | No |
TOPMed gnomAD |
|
rs765620642 | 1916 | A>V | No |
ExAC TOPMed gnomAD |
|
rs1413516994 | 1918 | E>K | No | gnomAD | |
rs1438540435 | 1918 | E>V | No | TOPMed | |
TCGA novel | 1919 | F>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs759844449 | 1920 | G>R | No |
ExAC TOPMed gnomAD |
|
rs1422819017 | 1922 | K>N | No | gnomAD | |
rs201226192 RCV000881219 |
1923 | V>F | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201226192 | 1923 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs372854885 | 1925 | E>K | No |
ESP TOPMed gnomAD |
|
rs757283771 | 1925 | E>S | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1926 | E>D | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs757862284 | 1926 | E>K | No | ExAC | |
rs1560298435 | 1927 | E>Q | No | Ensembl | |
rs2082343547 | 1927 | E>W | No | Ensembl |
No associated diseases with Q9Y2K3
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. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
myofibril | The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism. |
myosin filament | A supramolecular fiber containing myosin heavy chains, plus associated light chains and other proteins, in which the myosin heavy chains are arranged into a filament. |
myosin II complex | A myosin complex containing two class II myosin heavy chains, two myosin essential light chains and two myosin regulatory light chains. Also known as classical myosin or conventional myosin, the myosin II class includes the major muscle myosin of vertebrate and invertebrate muscle, and is characterized by alpha-helical coiled coil tails that self assemble to form a variety of filament structures. |
4 GO annotations of molecular function
Name | Definition |
---|---|
actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
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. |
microfilament motor activity | A motor activity that generates movement along a microfilament, driven by ATP hydrolysis. |
No GO annotations of biological process
Name | Definition |
---|---|
No GO annotations for biological process |
46 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q9BE40 | MYH1 | Myosin-1 | Bos taurus (Bovine) | SS |
Q9BE41 | MYH2 | Myosin-2 | Bos taurus (Bovine) | SS |
Q27991 | MYH10 | Myosin-10 | Bos taurus (Bovine) | SS |
Q9BE39 | MYH7 | Myosin-7 | Bos taurus (Bovine) | SS |
P10587 | MYH11 | Myosin-11 | Gallus gallus (Chicken) | SS |
P14105 | MYH9 | Myosin-9 | Gallus gallus (Chicken) | SS |
P02565 | MYH1B | Myosin-1B | Gallus gallus (Chicken) | SS |
P13538 | Myosin heavy chain, skeletal muscle, adult | Gallus gallus (Chicken) | SS | |
Q99323 | zip | Myosin heavy chain, non-muscle | Drosophila melanogaster (Fruit fly) | SS |
P05661 | Mhc | Myosin heavy chain, muscle | Drosophila melanogaster (Fruit fly) | SS |
A7E2Y1 | MYH7B | Myosin-7B | Homo sapiens (Human) | SS |
P11055 | MYH3 | Myosin-3 | Homo sapiens (Human) | SS |
P12882 | MYH1 | Myosin-1 | Homo sapiens (Human) | SS |
P12883 | MYH7 | Myosin-7 | Homo sapiens (Human) | EV |
P13533 | MYH6 | Myosin-6 | Homo sapiens (Human) | SS |
P13535 | MYH8 | Myosin-8 | Homo sapiens (Human) | SS |
Q9UKX3 | MYH13 | Myosin-13 | Homo sapiens (Human) | SS |
Q9Y623 | MYH4 | Myosin-4 | Homo sapiens (Human) | SS |
Q9UKX2 | MYH2 | Myosin-2 | Homo sapiens (Human) | SS |
P35580 | MYH10 | Myosin-10 | Homo sapiens (Human) | SS |
P35749 | MYH11 | Myosin-11 | Homo sapiens (Human) | SS |
P35579 | MYH9 | Myosin-9 | Homo sapiens (Human) | SS |
Q7Z406 | MYH14 | Myosin-14 | Homo sapiens (Human) | SS |
Q8VDD5 | Myh9 | Myosin-9 | Mus musculus (Mouse) | SS |
Q5SX39 | Myh4 | Myosin-4 | Mus musculus (Mouse) | SS |
P13542 | Myh8 | Myosin-8 | Mus musculus (Mouse) | SS |
Q02566 | Myh6 | Myosin-6 | Mus musculus (Mouse) | SS |
O08638 | Myh11 | Myosin-11 | Mus musculus (Mouse) | SS |
A2AQP0 | Myh7b | Myosin-7B | Mus musculus (Mouse) | SS |
Q61879 | Myh10 | Myosin-10 | Mus musculus (Mouse) | SS |
Q91Z83 | Myh7 | Myosin-7 | Mus musculus (Mouse) | SS |
Q6URW6 | Myh14 | Myosin-14 | Mus musculus (Mouse) | SS |
P13541 | Myh3 | Myosin-3 | Mus musculus (Mouse) | SS |
Q5SX40 | Myh1 | Myosin-1 | Mus musculus (Mouse) | SS |
P79293 | MYH7 | Myosin-7 | Sus scrofa (Pig) | SS |
Q9TV63 | MYH2 | Myosin-2 | Sus scrofa (Pig) | SS |
P12847 | Myh3 | Myosin-3 | Rattus norvegicus (Rat) | SS |
P02563 | Myh6 | Myosin-6 | Rattus norvegicus (Rat) | SS |
P02564 | Myh7 | Myosin-7 | Rattus norvegicus (Rat) | SS |
Q62812 | Myh9 | Myosin-9 | Rattus norvegicus (Rat) | SS |
Q29RW1 | Myh4 | Myosin-4 | Rattus norvegicus (Rat) | SS |
Q9JLT0 | Myh10 | Myosin-10 | Rattus norvegicus (Rat) | SS |
P02566 | unc-54 | Myosin-4 | Caenorhabditis elegans | SS |
P02567 | myo-1 | Myosin-1 | Caenorhabditis elegans | SS |
P12844 | myo-3 | Myosin-3 | Caenorhabditis elegans | SS |
P12845 | myo-2 | Myosin-2 | Caenorhabditis elegans | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MDLSDLGEAA | AFLRRSEAEL | LLLQATALDG | KKKCWIPDGE | NAYIEAEVKG | SEDDGTVIVE |
70 | 80 | 90 | 100 | 110 | 120 |
TADGESLSIK | EDKIQQMNPP | EFEMIEDMAM | LTHLNEASVL | HTLKRRYGQW | MIYTYSGLFC |
130 | 140 | 150 | 160 | 170 | 180 |
VTINPYKWLP | VYQKEVMAAY | KGKRRSEAPP | HIFAVANNAF | QDMLHNRENQ | SILFTGESGA |
190 | 200 | 210 | 220 | 230 | 240 |
GKTVNSKHII | QYFATIAAMI | ESRKKQGALE | DQIMQANTIL | EAFGNAKTLR | NDNSSRFGKF |
250 | 260 | 270 | 280 | 290 | 300 |
IRMHFGARGM | LSSVDIDIYL | LEKSRVIFQQ | AGERNYHIFY | QILSGQKELH | DLLLVSANPS |
310 | 320 | 330 | 340 | 350 | 360 |
DFHFCSCGAV | TVESLDDAEE | LLATEQAMDI | LGFLPDEKYG | CYKLTGAIMH | FGNMKFKQKP |
370 | 380 | 390 | 400 | 410 | 420 |
REEQLEADGT | ENADKAAFLM | GINSSELVKC | LIHPRIKVGN | EYVTRGQTIE | QVTCAVGALS |
430 | 440 | 450 | 460 | 470 | 480 |
KSMYERMFKW | LVARINRALD | AKLSRQFFIG | ILDITGFEIL | EYNSLEQLCI | NFTNEKLQQF |
490 | 500 | 510 | 520 | 530 | 540 |
FNWHMFVLEQ | EEYKKESIEW | VSIGFGLDLQ | ACIDLIEKPM | GILSILEEEC | MFPKATDLTF |
550 | 560 | 570 | 580 | 590 | 600 |
KTKLFDNHFG | KSVHLQKPKP | DKKKFEAHFE | LVHYAGVVPY | NISGWLEKNK | DLLNETVVAV |
610 | 620 | 630 | 640 | 650 | 660 |
FQKSSNRLLA | SLFENYMSTD | SAIPFGEKKR | KKGASFQTVA | SLHKENLNKL | MTNLKSTAPH |
670 | 680 | 690 | 700 | 710 | 720 |
FVRCINPNVN | KIPGILDPYL | VLQQLRCNGV | LEGTRICREG | FPNRLQYADF | KQRYCILNPR |
730 | 740 | 750 | 760 | 770 | 780 |
TFPKSKFVSS | RKAAEELLGS | LEIDHTQYRF | GITKVFFKAG | FLGQLEAIRD | ERLSKVFTLF |
790 | 800 | 810 | 820 | 830 | 840 |
QARAQGKLMR | IKFQKILEER | DALILIQWNI | RAFMAVKNWP | WMRLFFKIKP | LVKSSEVGEE |
850 | 860 | 870 | 880 | 890 | 900 |
VAGLKEECAQ | LQKALEKSEF | QREELKAKQV | SLTQEKNDLI | LQLQAEQETL | ANVEEQCEWL |
910 | 920 | 930 | 940 | 950 | 960 |
IKSKIQLEAR | VKELSERVEE | EEEINSELTA | RGRKLEDECF | ELKKEIDDLE | TMLVKSEKEK |
970 | 980 | 990 | 1000 | 1010 | 1020 |
RTTEHKVKNL | TEEVEFLNED | ISKLNRAAKV | VQEAHQQTLD | DLHMEEEKLS | SLSKANLKLE |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
QQVDELEGAL | EQERKARMNC | ERELHKLEGN | LKLNRESMEN | LESSQRHLAE | ELRKKELELS |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
QMNSKVENEK | GLVAQLQKTV | KELQTQIKDL | KEKLEAERTT | RAKMERERAD | LTQDLADLNE |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
RLEEVGGSSL | AQLEITKKQE | TKFQKLHRDM | EEATLHFETT | SASLKKRHAD | SLAELEGQVE |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
NLQQVKQKLE | KDKSDLQLEV | DDLLTRVEQM | TRAKANAEKL | CTLYEERLHE | ATAKLDKVTQ |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
LANDLAAQKT | KLWSESGEFL | RRLEEKEALI | NQLSREKSNF | TRQIEDLRGQ | LEKETKSQSA |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
LAHALQKAQR | DCDLLREQYE | EEQEVKAELH | RTLSKVNAEM | VQWRMKYENN | VIQRTEDLED |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
AKKELAIRLQ | EAAEAMGVAN | ARNASLERAR | HQLQLELGDA | LSDLGKVRSA | AARLDQKQLQ |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
SGKALADWKQ | KHEESQALLD | ASQKEVQALS | TELLKLKNTY | EESIVGQETL | RRENKNLQEE |
1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
ISNLTNQVRE | GTKNLTEMEK | VKKLIEEEKT | EVQVTLEETE | GALERNESKI | LHFQLELLEA |
1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
KAELERKLSE | KDEEIENFRR | KQQCTIDSLQ | SSLDSEAKSR | IEVTRLKKKM | EEDLNEMELQ |
1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
LSCANRQVSE | ATKSLGQLQI | QIKDLQMQLD | DSTQLNSDLK | EQVAVAERRN | SLLQSELEDL |
1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
RSLQEQTERG | RRLSEEELLE | ATERINLFYT | QNTSLLSQKK | KLEADVARMQ | KEAEEVVQEC |
1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
QNAEEKAKKA | AIEAANLSEE | LKKKQDTIAH | LERTRENMEQ | TITDLQKRLA | EAEQMALMGS |
1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
RKQIQKLESR | VRELEGELEG | EIRRSAEAQR | GARRLERCIK | ELTYQAEEDK | KNLSRMQTQM |
1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
DKLQLKVQNY | KQQVEVAETQ | ANQYLSKYKK | QQHELNEVKE | RAEVAESQVN | KLKIKAREFG |
KKVQEE |