Descriptions
Intersectin 1 is a guanine nucleotide exchange factor (GEF) protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. The GEF activity of Intersectin 1 is mediated by its short SH3-DH domain linker, rather than by its SH3 domains. The specific amino acid W1221 within this linker is a key residue for establishing the inhibitory interaction. This mechanism serves to prevent the unregulated activation of the GEF, thereby conserving cellular resources and ensuring precise control of downstream signaling pathways. As SH3 domains are not involved in the autoinhibition, the interaction with the proline-rich region of N-WASP is unable to release the autoinhibition. Although the mechanism by which the autoinhibition is relieved remains unidentified, the activity of Intersectin 1 may be alleviated by transient interactions with binding partners that could mask W1221.
Autoinhibitory domains (AIDs)
Target domain |
1201-1550 (DH-PH domains) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Kintscher C et al. (2010) "Autoinhibition of GEF activity in Intersectin 1 is mediated by the short SH3-DH domain linker", Protein science : a publication of the Protein Society, 19, 2164-74
- Gerth F et al. (2019) "Exon Inclusion Modulates Conformational Plasticity and Autoinhibition of the Intersectin 1 SH3A Domain", Structure (London, England : 1993), 27, 977-987.e5
- Ahmad KF et al. (2010) "The minimal autoinhibited unit of the guanine nucleotide exchange factor intersectin", PloS one, 5, e11291
- Murayama K et al. (2007) "Crystal structure of the rac activator, Asef, reveals its autoinhibitory mechanism", The Journal of biological chemistry, 282, 4238-4242
Autoinhibited structure
Activated structure
9 structures for Q9NZM3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1J3T | NMR | - | A | 898-958 | PDB |
| 1UDL | NMR | - | A | 1103-1187 | PDB |
| 1UE9 | NMR | - | A | 1056-1122 | PDB |
| 1UFF | NMR | - | A | 762-842 | PDB |
| 1UHF | NMR | - | A | 983-1038 | PDB |
| 3GF9 | X-ray | 250 A | A | 1130-1406 | PDB |
| 3JZY | X-ray | 156 A | A | 1201-1692 | PDB |
| 4IIO | X-ray | 170 A | A/B | 901-955 | PDB |
| AF-Q9NZM3-F1 | Predicted | AlphaFoldDB |
1676 variants for Q9NZM3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA346033651 RCV000625853 rs1553340826 |
1403 | D>G | Landau-Kleffner syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| rs142953089 | 2 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1254439072 | 3 | A>T | No |
TOPMed gnomAD |
|
| rs1685352729 | 3 | A>V | No | TOPMed | |
| rs1023108879 | 4 | Q>* | No |
TOPMed gnomAD |
|
| rs1211442144 | 4 | Q>R | No | gnomAD | |
| rs779144117 | 8 | A>G | No |
ExAC gnomAD |
|
| rs1353426696 | 9 | M>I | No |
TOPMed gnomAD |
|
| rs80075089 | 9 | M>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1685349240 | 10 | N>S | No |
TOPMed gnomAD |
|
| rs1259514422 | 11 | G>R | No | gnomAD | |
| rs147319050 | 12 | G>R | No |
ESP TOPMed gnomAD |
|
| rs767083809 | 13 | P>L | No |
ExAC gnomAD |
|
| rs148176656 | 13 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs774973140 | 15 | M>I | No | ExAC | |
| rs138417754 | 15 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs914599793 | 15 | M>V | No | TOPMed | |
| rs1558614287 | 16 | W>R | No | Ensembl | |
| rs140770063 | 18 | I>L | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM1631933 COSM1631934 rs140770063 |
18 | I>V | liver [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs1683756764 | 21 | E>K | No | Ensembl | |
|
COSM183698 rs749695277 |
23 | R>C | large_intestine [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1232558704 | 23 | R>H | No | TOPMed | |
| rs773510274 | 24 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs770144635 | 24 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs748445624 | 26 | H>Y | No |
ExAC gnomAD |
|
| rs953437669 | 27 | D>A | No | Ensembl | |
| rs1683753215 | 27 | D>E | No | TOPMed | |
| rs755131394 | 27 | D>H | No |
ExAC gnomAD |
|
| rs755131394 | 27 | D>N | No |
ExAC gnomAD |
|
| rs755131394 | 27 | D>Y | No |
ExAC gnomAD |
|
| rs1260280450 | 28 | R>G | No | gnomAD | |
| rs745759531 | 28 | R>K | No |
ExAC gnomAD |
|
| rs1574282639 | 34 | K>N | No | Ensembl | |
| rs1201313479 | 34 | K>R | No |
TOPMed gnomAD |
|
| rs1273908882 | 35 | P>S | No | gnomAD | |
| rs1683750613 | 39 | Y>N | No | TOPMed | |
| rs1316355011 | 40 | I>K | No | gnomAD | |
| rs756949948 | 40 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs746351031 | 41 | T>R | No |
ExAC gnomAD |
|
| rs777030345 | 43 | D>N | No |
ExAC gnomAD |
|
|
COSM183697 rs768573927 |
44 | Q>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC NCI-TCGA gnomAD |
| rs865918504 | 45 | A>S | No | Ensembl | |
| rs778661436 | 45 | A>V | No |
ExAC TOPMed gnomAD |
|
|
COSM3722215 rs770910409 COSM3722216 |
46 | R>C | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs371930652 | 46 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs371930652 | 46 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1399045118 | 47 | N>D | No | gnomAD | |
| rs1399389064 | 47 | N>T | No |
TOPMed gnomAD |
|
| rs777533726 | 50 | L>P | No |
ExAC gnomAD |
|
| rs752316946 | 51 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs1214658843 | 51 | Q>R | No |
TOPMed gnomAD |
|
| rs1683516034 | 53 | G>D | No | TOPMed | |
| rs1310102004 | 53 | G>S | No | TOPMed | |
| rs368640072 | 54 | L>P | No | ESP | |
| rs765871624 | 55 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs765871624 | 55 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs751083872 | 55 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1683513496 | 59 | L>S | No | TOPMed | |
| rs1194506232 | 60 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs766979601 | 64 | A>G | No |
TOPMed gnomAD |
|
| rs766979601 | 64 | A>V | No |
TOPMed gnomAD |
|
| rs758020245 | 66 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs199506980 | 68 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 71 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754237682 | 72 | G>A | No | ExAC | |
| rs1360504995 | 72 | G>R | No | gnomAD | |
|
rs764437126 COSM1306628 COSM1306627 |
73 | K>N | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC gnomAD |
| rs1683351217 | 73 | K>Q | No | TOPMed | |
| rs1683350880 | 73 | K>T | No | Ensembl | |
| rs1683349344 | 79 | F>L | No | Ensembl | |
| rs921974617 | 80 | S>C | No | TOPMed | |
| rs921974617 | 80 | S>Y | No | TOPMed | |
| rs1249687980 | 81 | I>T | No | gnomAD | |
| rs775626234 | 81 | I>V | No |
ExAC gnomAD |
|
|
COSM1306626 COSM1306625 |
82 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1175643824 | 83 | M>R | No | gnomAD | |
| rs1683347445 | 86 | I>T | No | TOPMed | |
| rs759645866 | 87 | K>I | No |
ExAC TOPMed gnomAD |
|
| rs1683346629 | 87 | K>N | No | TOPMed | |
| rs759645866 | 87 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1683346291 | 88 | L>R | No | TOPMed | |
| rs773084425 | 90 | L>R | No |
ExAC gnomAD |
|
| rs370279890 | 91 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM4942677 COSM4942676 |
94 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 99 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1558608174 | 99 | L>H | No | Ensembl | |
| rs1683342829 | 101 | P>S | No |
TOPMed gnomAD |
|
| rs1215315339 | 102 | I>T | No | TOPMed | |
| rs768383486 | 102 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1683341912 | 103 | M>V | No | Ensembl | |
| rs978440528 | 104 | K>R | No | TOPMed | |
| rs779600727 | 105 | Q>K | No |
ExAC gnomAD |
|
| rs1175351484 | 106 | P>S | No |
TOPMed gnomAD |
|
| rs2151746673 | 108 | M>I | No | Ensembl | |
| rs1340412125 | 108 | M>R | No | gnomAD | |
| rs1340412125 | 108 | M>T | No | gnomAD | |
| rs757930094 | 108 | M>V | No |
ExAC TOPMed gnomAD |
|
|
COSM3580206 rs999374892 COSM3580205 |
111 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs779493029 | 112 | L>F | No |
ExAC TOPMed gnomAD |
|
|
COSM3839131 COSM3839130 |
112 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3839128 COSM3839129 |
113 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs903281709 | 113 | I>V | No |
TOPMed gnomAD |
|
| TCGA novel | 114 | S>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757838248 | 116 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs754364930 | 116 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs754364930 | 116 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs757838248 | 116 | R>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 117 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 117 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs145742275 | 119 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 119 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1683153135 | 121 | S>I | No | Ensembl | |
| rs1683152514 | 122 | M>I | No | TOPMed | |
| rs2151737109 | 123 | P>R | No | Ensembl | |
| rs1265867730 | 123 | P>S | No | Ensembl | |
| COSM282032 | 124 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs972748293 | 124 | N>S | No | TOPMed | |
| rs1177634798 | 126 | S>P | No |
TOPMed gnomAD |
|
| rs763672361 | 127 | I>F | No |
TOPMed gnomAD |
|
| rs763672361 | 127 | I>V | No |
TOPMed gnomAD |
|
| rs756453174 | 128 | P>L | No |
ExAC gnomAD |
|
| rs756453174 | 128 | P>R | No |
ExAC gnomAD |
|
| TCGA novel | 128 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151736961 | 129 | Q>K | No | Ensembl | |
| rs373219511 | 129 | Q>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs373219511 | 129 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs755178777 | 130 | P>S | No |
ExAC gnomAD |
|
| rs1184568591 | 132 | P>L | No |
TOPMed gnomAD |
|
| rs1363175077 | 132 | P>T | No | gnomAD | |
|
rs144746035 COSM1326288 COSM1326287 |
133 | P>A | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs144746035 | 133 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1039495775 | 134 | A>P | No | TOPMed | |
| rs1683145773 | 135 | A>V | No | TOPMed | |
| rs368920828 | 136 | P>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs368920828 | 136 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs368920828 | 136 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1252740262 | 136 | P>S | No | gnomAD | |
| rs1179551780 | 137 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1683143915 | 138 | T>A | No | TOPMed | |
| rs958566660 | 138 | T>I | No | TOPMed | |
| rs775418018 | 139 | S>P | No |
ExAC gnomAD |
|
| rs759244028 | 141 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs1288553685 | 142 | S>P | No |
TOPMed gnomAD |
|
| rs770528803 | 143 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs748758417 | 148 | N>K | No |
ExAC gnomAD |
|
| rs150905984 | 148 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1248137887 COSM4402339 COSM4402340 |
149 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs267599297 | 151 | P>A | No |
TOPMed gnomAD |
|
| rs267599297 | 151 | P>S | No |
TOPMed gnomAD |
|
| rs781512775 | 153 | M>T | No |
ExAC gnomAD |
|
| rs1260656298 | 153 | M>V | No |
TOPMed gnomAD |
|
| rs1267194142 | 154 | M>I | No | gnomAD | |
| rs755374816 | 154 | M>K | No |
ExAC gnomAD |
|
| rs1683137576 | 155 | P>L | No | Ensembl | |
| rs1019922996 | 157 | P>A | No | gnomAD | |
|
COSM3580204 COSM3580203 |
157 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1019922996 | 157 | P>S | No | gnomAD | |
| rs1019922996 | 157 | P>T | No | gnomAD | |
| rs751739977 | 159 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1274595348 | 160 | P>A | No |
TOPMed gnomAD |
|
| rs1274595348 | 160 | P>S | No |
TOPMed gnomAD |
|
|
rs1284289801 COSM3910071 COSM3910070 |
161 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1009859362 | 161 | S>P | No | Ensembl | |
| rs1239925131 | 162 | V>I | No | gnomAD | |
| rs1482099760 | 164 | T>I | No |
TOPMed gnomAD |
|
| rs1482099760 | 164 | T>K | No |
TOPMed gnomAD |
|
| rs780276544 | 165 | S>A | No |
ExAC gnomAD |
|
| rs1574264703 | 167 | L>F | No | Ensembl | |
| rs1330607379 | 168 | P>Q | No | gnomAD | |
| rs750469443 | 169 | N>K | No |
ExAC gnomAD |
|
| rs1683132573 | 169 | N>S | No |
TOPMed gnomAD |
|
| rs1683131909 | 170 | G>* | No | TOPMed | |
| rs1401753260 | 170 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs765422304 | 171 | T>P | No |
ExAC gnomAD |
|
| rs767393012 | 172 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs767393012 | 172 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2151735991 | 173 | S>G | No | Ensembl | |
| rs1683129336 | 175 | I>N | No | gnomAD | |
| rs988282642 | 176 | Q>H | No |
TOPMed gnomAD |
|
| rs1473017848 | 177 | P>S | No | TOPMed | |
| rs759439868 | 179 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs759439868 | 179 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1368675093 | 180 | I>L | No |
TOPMed gnomAD |
|
| rs1683127024 | 181 | P>S | No | Ensembl | |
| rs774098689 | 183 | S>A | No |
ExAC gnomAD |
|
| rs145563967 | 185 | S>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1683121881 | 186 | T>A | No | TOPMed | |
| rs1037001179 | 187 | L>F | No |
TOPMed gnomAD |
|
| rs1388234921 | 188 | P>L | No | TOPMed | |
|
COSM3939030 COSM3939029 rs1025541867 |
188 | P>S | oesophagus [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs374136596 | 189 | H>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs374136596 | 189 | H>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs374136596 | 189 | H>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs550046461 | 190 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
| rs772533023 | 190 | G>R | No |
ExAC TOPMed gnomAD |
|
|
COSM6157765 COSM6157766 |
195 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1683101779 | 196 | M>K | No |
TOPMed gnomAD |
|
| rs749392913 | 197 | M>K | No |
ExAC TOPMed gnomAD |
|
| rs781209556 | 198 | G>E | No |
ExAC gnomAD |
|
| rs1683100775 | 199 | G>R | No | Ensembl | |
| rs1416645826 | 200 | F>V | No | gnomAD | |
| rs754963285 | 201 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs766055449 | 204 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs1170877689 | 204 | S>I | No | TOPMed | |
| rs1170877689 | 204 | S>N | No | TOPMed | |
| rs1683097659 | 205 | I>T | No | Ensembl | |
| rs1376525074 | 205 | I>V | No | Ensembl | |
| rs1180737129 | 207 | K>R | No | gnomAD | |
| rs758241870 | 208 | A>S | No |
ExAC gnomAD |
|
| rs758241870 | 208 | A>T | No |
ExAC gnomAD |
|
| rs1683096263 | 208 | A>V | No | TOPMed | |
| rs560892975 | 214 | L>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1402527853 | 214 | L>I | No | TOPMed | |
| TCGA novel | 215 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1363477510 | 215 | G>E | No | TOPMed | |
| rs776111206 | 217 | S>G | No |
ExAC gnomAD |
|
| rs763649991 | 217 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs763649991 | 217 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs1264295452 | 219 | S>P | No | TOPMed | |
| rs1398189526 | 220 | T>A | No |
TOPMed gnomAD |
|
| TCGA novel | 221 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772038579 COSM4504466 COSM4504465 |
222 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1682868849 | 224 | A>V | No | TOPMed | |
| rs1402546081 | 226 | L>P | No | gnomAD | |
| rs1481288377 | 228 | G>R | No |
TOPMed gnomAD |
|
| rs1461390060 | 229 | N>K | No |
TOPMed gnomAD |
|
| TCGA novel | 231 | P>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs147609708 | 233 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1682865287 | 233 | T>S | No | Ensembl | |
| rs2151723441 | 234 | G>E | No | Ensembl | |
|
COSM1482975 COSM442660 |
234 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1053011810 | 235 | T>I | No |
TOPMed gnomAD |
|
|
COSM1482974 COSM442659 rs1320241886 |
236 | S>L | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs367583934 | 239 | A>S | No |
ESP gnomAD |
|
| rs1056160777 | 242 | Q>L | No | Ensembl | |
| rs752260897 | 243 | P>L | No |
ExAC gnomAD |
|
| rs926903259 | 248 | Y>C | No | Ensembl | |
| rs185661764 | 249 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs928548382 | 249 | R>W | No |
TOPMed gnomAD |
|
| rs1682859312 | 252 | F>L | No | gnomAD | |
| rs1447763409 | 253 | N>I | No | gnomAD | |
| rs1558599537 | 253 | N>K | No | Ensembl | |
| rs1447763409 | 253 | N>S | No | gnomAD | |
|
rs6744320 VAR_024287 |
254 | T>A | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs752056227 | 254 | T>I | No |
ExAC gnomAD |
|
| rs752056227 | 254 | T>S | No |
ExAC gnomAD |
|
| rs915295079 | 257 | K>E | No |
TOPMed gnomAD |
|
| rs763430628 | 257 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1682856241 | 258 | S>R | No | gnomAD | |
| rs1456388560 | 259 | M>I | No | gnomAD | |
|
COSM1614650 rs373744022 COSM1614649 |
259 | M>V | liver [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs1222529134 | 261 | G>R | No |
TOPMed gnomAD |
|
| rs948562931 | 262 | Y>C | No |
TOPMed gnomAD |
|
| rs948562931 | 262 | Y>S | No |
TOPMed gnomAD |
|
| rs750812494 | 266 | F>I | No |
ExAC gnomAD |
|
| rs868349271 | 268 | A>D | No | TOPMed | |
| rs868349271 | 268 | A>G | No | TOPMed | |
| rs1682127322 | 268 | A>T | No | Ensembl | |
| rs765750056 | 269 | R>G | No |
ExAC gnomAD |
|
| TCGA novel | 269 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1665146718 | 271 | A>P | No | Ensembl | |
|
COSM1407034 COSM1407035 |
271 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs951327497 | 273 | L>F | No |
TOPMed gnomAD |
|
| rs377620364 | 273 | L>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs375747198 | 274 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM2157017 COSM2157018 |
275 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1170241134 | 276 | N>D | No | gnomAD | |
| TCGA novel | 276 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1170241134 | 276 | N>Y | No | gnomAD | |
| rs1429120961 | 278 | S>P | No |
TOPMed gnomAD |
|
| rs2151687673 | 280 | T>S | No | 1000Genomes | |
| rs1195029630 | 283 | A>V | No | gnomAD | |
| rs1682120918 | 285 | I>V | No | TOPMed | |
| rs1682120557 | 286 | W>L | No | Ensembl | |
| rs754041111 | 287 | T>A | No |
ExAC gnomAD |
|
| rs1681837656 | 287 | T>S | No | TOPMed | |
| rs1358193106 | 288 | L>V | No |
TOPMed gnomAD |
|
| rs1338751183 | 289 | A>V | No |
TOPMed gnomAD |
|
|
VAR_024288 rs7603997 RCV001677922 |
291 | V>I | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1332746726 | 293 | G>D | No | gnomAD | |
| rs986634772 | 294 | D>N | No | Ensembl | |
|
COSM4093186 COSM4093185 |
295 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs796354962 | 295 | G>V | No | Ensembl | |
| rs1353210499 | 296 | Q>* | No | gnomAD | |
| rs1328779225 | 296 | Q>R | No | gnomAD | |
| rs1681831346 | 298 | K>E | No | Ensembl | |
| rs1681830956 | 299 | A>T | No | gnomAD | |
| rs376543213 | 300 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs1681828708 | 306 | M>T | No | Ensembl | |
| rs373051329 | 306 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1214938239 | 307 | H>N | No | Ensembl | |
| rs1681827802 | 308 | L>F | No | Ensembl | |
| rs1681827212 | 310 | D>E | No | TOPMed | |
| rs1681825685 | 311 | M>I | No | TOPMed | |
| rs376397736 | 311 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1028174212 | 311 | M>V | No |
TOPMed gnomAD |
|
| rs768189159 | 312 | A>T | No |
ExAC gnomAD |
|
| rs373316215 | 312 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1224853328 | 313 | K>R | No | Ensembl | |
| rs146120506 | 316 | Q>E | No |
ESP TOPMed gnomAD |
|
| TCGA novel | 316 | Q>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746333956 | 316 | Q>R | No |
ExAC gnomAD |
|
| TCGA novel | 318 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1353914308 | 322 | L>V | No | gnomAD | |
|
COSM1019105 COSM1592007 |
323 | P>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1221509681 | 324 | P>R | No | gnomAD | |
| rs1311017045 | 324 | P>S | No | gnomAD | |
| rs867795326 | 325 | E>A | No | TOPMed | |
| rs754160618 | 326 | L>F | No |
ExAC gnomAD |
|
| rs1187444779 | 329 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
COSM71228 rs1352164233 |
330 | S>C | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
| rs1352164233 | 330 | S>F | No |
TOPMed gnomAD |
|
| rs1352164233 | 330 | S>Y | No |
TOPMed gnomAD |
|
| rs778271349 | 331 | F>Y | No |
ExAC TOPMed gnomAD |
|
| rs749864598 | 335 | K>Q | No |
ExAC gnomAD |
|
| rs777978072 | 335 | K>R | No |
ExAC gnomAD |
|
| rs756515465 | 337 | I>V | No |
ExAC gnomAD |
|
| rs1198597659 | 338 | D>G | No | gnomAD | |
| rs1427034814 | 338 | D>Y | No | gnomAD | |
| rs138489908 | 339 | S>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs138489908 | 339 | S>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs137910641 | 340 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1681683595 | 341 | N>S | No | Ensembl | |
| rs1681684176 | 341 | N>Y | No | TOPMed | |
| rs1681682434 | 344 | L>Q | No |
TOPMed gnomAD |
|
| rs751583641 | 345 | P>L | No |
ExAC gnomAD |
|
| rs2151667082 | 345 | P>T | No | Ensembl | |
|
COSM3798852 COSM3798851 |
346 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1316828044 | 348 | Q>H | No | TOPMed | |
| rs753854204 | 348 | Q>K | No |
ExAC gnomAD |
|
| rs1574222176 | 350 | M>I | No | Ensembl | |
| rs1574222195 | 350 | M>T | No | Ensembl | |
| rs1223406571 | 353 | E>D | No | gnomAD | |
| rs1465539128 | 353 | E>K | No |
TOPMed gnomAD |
|
| rs763941340 | 354 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1319260162 | 354 | E>G | No | gnomAD | |
| rs1681675824 | 361 | V>L | No | TOPMed | |
| rs1194705800 | 362 | T>A | No | TOPMed | |
| rs1248015996 | 363 | F>S | No | TOPMed | |
| rs1313961327 | 364 | E>G | No |
TOPMed gnomAD |
|
|
COSM3798850 COSM3798849 |
364 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4093184 COSM4093183 |
366 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1336121305 | 367 | R>Q | No |
TOPMed gnomAD |
|
| rs779962692 | 367 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs758536553 | 369 | A>T | No | ExAC | |
| rs1444395471 | 370 | N>S | No | TOPMed | |
| rs371731551 | 371 | Y>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs1398476604 | 373 | R>* | No | gnomAD | |
| rs1167369542 | 373 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1028647210 | 374 | G>R | No |
TOPMed gnomAD |
|
| rs1223136831 | 375 | N>D | No | gnomAD | |
| rs1681533193 | 376 | M>I | No | gnomAD | |
| rs767478815 | 376 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs534447630 | 376 | M>V | No |
ExAC gnomAD |
|
| rs759089134 | 377 | E>Q | No |
ExAC gnomAD |
|
| rs746428169 | 380 | K>E | No |
TOPMed gnomAD |
|
| rs1681531748 | 380 | K>R | No | TOPMed | |
| rs1178652700 | 381 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1178652700 | 381 | R>G | No |
TOPMed gnomAD |
|
| rs774093059 | 381 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs762550534 | 382 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs781391253 | 382 | R>H | No |
TOPMed gnomAD |
|
| rs1681529127 | 383 | Q>E | No | TOPMed | |
| rs773654831 | 383 | Q>R | No |
ExAC gnomAD |
|
| rs1681528081 | 384 | A>D | No | TOPMed | |
| rs1681528440 | 384 | A>T | No | Ensembl | |
| rs1277820765 | 386 | M>I | No | gnomAD | |
| rs770278075 | 386 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs770278075 | 386 | M>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 387 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748709867 | 392 | E>K | No |
ExAC gnomAD |
|
| rs141131412 | 393 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs776955379 | 393 | A>S | No |
ExAC gnomAD |
|
| rs141131412 | 393 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1558581440 | 394 | E>G | No | Ensembl | |
|
COSM6157768 COSM6157767 |
394 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs367839713 | 395 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs374912990 | 395 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs374912990 | 395 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1681522575 | 396 | K>E | No | gnomAD | |
|
COSM1592009 COSM1019101 |
397 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1681522229 | 398 | Q>E | No | TOPMed | |
| rs1391400729 | 402 | E>K | No |
TOPMed gnomAD |
|
| rs1681520355 | 403 | E>D | No |
TOPMed gnomAD |
|
|
COSM6157769 COSM6157770 |
404 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1258919694 | 406 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
|
COSM1407028 rs1422527003 COSM1407029 |
406 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs745962189 | 407 | K>N | No |
ExAC gnomAD |
|
| rs1681518975 | 409 | R>K | No | Ensembl | |
| rs1681517940 | 410 | E>D | No |
TOPMed gnomAD |
|
| rs1681518296 | 410 | E>G | No | gnomAD | |
| rs1574216599 | 412 | Q>* | No | Ensembl | |
| rs143043462 | 415 | E>G | No |
ESP ExAC gnomAD |
|
| rs1681516335 | 418 | K>Q | No | gnomAD | |
| TCGA novel | 418 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 421 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1681515312 | 422 | L>S | No | TOPMed | |
|
COSM3580202 COSM3580201 |
423 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs751818988 | 425 | R>C | No |
ExAC TOPMed gnomAD |
|
|
COSM183694 rs777801668 |
425 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs181552771 | 430 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs372641484 | 430 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1681511784 | 435 | Q>E | No | gnomAD | |
|
rs766072107 COSM1407027 COSM1407026 |
436 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1238446619 | 436 | R>L | No | gnomAD | |
|
rs1238446619 COSM5973716 COSM5973715 |
436 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
| rs147837423 | 437 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs573240350 | 438 | E>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs902136959 | 439 | E>A | No |
TOPMed gnomAD |
|
| rs1403099759 | 439 | E>Q | No |
TOPMed gnomAD |
|
| rs764772611 | 440 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1344625260 | 440 | R>W | No |
TOPMed gnomAD |
|
| rs61757119 | 441 | R>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs61757119 | 441 | R>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs768853789 | 443 | D>E | No |
ExAC gnomAD |
|
| rs1341896729 | 443 | D>G | No |
TOPMed gnomAD |
|
| rs777149905 | 443 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs761114130 | 444 | I>V | No |
ExAC gnomAD |
|
| rs775507437 | 445 | E>A | No |
ExAC gnomAD |
|
| TCGA novel | 445 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1681506176 | 446 | R>G | No | gnomAD | |
|
COSM3798845 COSM3798846 |
446 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772332880 | 447 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs772332880 | 447 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs746153312 | 447 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1681504708 | 448 | E>K | No | gnomAD | |
| rs1354420333 | 450 | A>G | No |
TOPMed gnomAD |
|
| rs1361971304 | 451 | K>T | No | TOPMed | |
| rs2151648163 | 452 | Q>K | No | Ensembl | |
| rs2151648124 | 454 | L>H | No | Ensembl | |
|
COSM3735571 COSM3735570 rs764665587 |
456 | R>* | Variant assessed as Somatic; HIGH impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs553033900 | 456 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes NCI-TCGA TOPMed gnomAD |
| rs116395701 | 457 | Q>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs775911766 | 458 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
rs200633067 COSM4093181 COSM4093182 |
458 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs150014134 | 459 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs151243708 | 459 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs771090681 | 460 | L>F | No |
ExAC gnomAD |
|
| rs1056131931 | 462 | W>C | No |
TOPMed gnomAD |
|
| rs1681331132 | 462 | W>R | No | Ensembl | |
| rs749396727 | 463 | E>K | No |
ExAC gnomAD |
|
|
COSM4399941 COSM4399940 |
464 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs938940108 | 464 | R>I | No |
TOPMed gnomAD |
|
| rs938940108 | 464 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs780927701 | 466 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs370689520 | 466 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1407024 rs780927701 COSM1407025 |
466 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1334075840 | 467 | R>* | No | gnomAD | |
| rs146154232 | 467 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs146154232 | 467 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1681327272 | 468 | Q>E | No | Ensembl | |
| rs146204203 | 468 | Q>R | No |
ESP TOPMed gnomAD |
|
| rs758215922 | 471 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs199779306 | 472 | N>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs980353512 | 472 | N>S | No | TOPMed | |
|
COSM1306623 COSM1306624 |
473 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1407022 COSM1407023 |
474 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778548633 | 475 | N>I | No |
ExAC gnomAD |
|
| rs753339407 | 475 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs778548633 | 475 | N>S | No |
ExAC gnomAD |
|
| rs763568544 | 476 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs1445410527 | 476 | R>S | No |
TOPMed gnomAD |
|
| rs1387348610 | 477 | E>D | No | gnomAD | |
| rs1681323115 | 477 | E>G | No | Ensembl | |
| rs139536148 | 478 | Q>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs372590104 | 478 | Q>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs372590104 | 478 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1206525916 | 479 | E>D | No | gnomAD | |
| TCGA novel | 480 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1372241215 | 480 | E>D | No |
TOPMed gnomAD |
|
| rs760002580 | 480 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs377396485 | 481 | I>M | No | TOPMed | |
| rs1681319534 | 481 | I>N | No | Ensembl | |
| rs770237898 | 481 | I>V | No | TOPMed | |
| rs766717134 | 482 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs766717134 | 482 | V>D | No |
ExAC TOPMed gnomAD |
|
| rs774661145 | 482 | V>I | No |
ExAC gnomAD |
|
| rs763336031 | 487 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1055779984 | 489 | K>E | No |
TOPMed gnomAD |
|
| rs141655958 | 489 | K>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs370935977 | 490 | N>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs370935977 | 490 | N>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs1376990709 | 490 | N>T | No | gnomAD | |
| rs376517605 | 491 | L>F | No |
ESP ExAC gnomAD |
|
| rs1681313735 | 492 | H>R | No | TOPMed | |
| rs112891258 | 494 | E>G | No | Ensembl | |
| TCGA novel | 495 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs745667157 | 495 | L>V | No |
ExAC gnomAD |
|
|
COSM3580200 COSM3580199 |
496 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1681312117 | 497 | A>T | No | TOPMed | |
| rs1681311732 | 497 | A>V | No | Ensembl | |
| rs770754200 | 499 | N>K | No |
ExAC gnomAD |
|
| rs774108400 | 499 | N>Y | No |
ExAC gnomAD |
|
| rs375173687 | 500 | G>S | No | Ensembl | |
| rs1373538436 | 502 | H>R | No | Ensembl | |
| rs1177065750 | 503 | Q>L | No |
TOPMed gnomAD |
|
| rs1177065750 | 503 | Q>R | No |
TOPMed gnomAD |
|
| rs748932440 | 504 | Q>H | No |
ExAC gnomAD |
|
| rs2151628486 | 505 | I>M | No | Ensembl | |
| TCGA novel | 507 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs997127653 | 507 | G>D | No | Ensembl | |
| rs183568596 | 509 | L>F | No |
1000Genomes ExAC gnomAD |
|
| rs1680884651 | 511 | D>G | No | TOPMed | |
| rs1198447655 | 512 | V>G | No |
TOPMed gnomAD |
|
| rs1574196372 | 512 | V>I | No | Ensembl | |
| rs755593710 | 513 | R>G | No |
ExAC gnomAD |
|
| rs747619276 | 513 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs868821504 | 515 | K>R | No | TOPMed | |
| rs868821504 | 515 | K>T | No | TOPMed | |
| TCGA novel | 516 | K>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1680881501 | 518 | T>A | No | TOPMed | |
| TCGA novel | 519 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780920883 | 519 | Q>P | No |
ExAC TOPMed gnomAD |
|
| rs1388200738 | 520 | K>E | No |
TOPMed gnomAD |
|
| rs1680879817 | 521 | T>A | No | TOPMed | |
| rs1680878233 | 522 | E>D | No | Ensembl | |
| rs1224624127 | 522 | E>G | No | gnomAD | |
| rs1281733732 | 525 | V>I | No | gnomAD | |
| rs2151628142 | 527 | D>G | No | Ensembl | |
| rs1680875534 | 527 | D>N | No | gnomAD | |
| rs758707433 | 529 | Q>K | No |
ExAC gnomAD |
|
| rs1428971259 | 531 | D>Y | No |
TOPMed gnomAD |
|
| rs1680873869 | 533 | E>K | No | TOPMed | |
| rs1680873311 | 534 | I>F | No | Ensembl | |
| rs750597212 | 535 | M>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 535 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3580198 COSM3580197 |
536 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1680871672 | 537 | I>V | No |
TOPMed gnomAD |
|
| rs994072366 | 538 | K>N | No |
TOPMed gnomAD |
|
| rs1337525740 | 539 | Q>R | No | gnomAD | |
| TCGA novel | 542 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1404831048 | 542 | Q>K | No | TOPMed | |
|
TCGA novel rs1680868913 |
543 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1318255754 | 544 | L>F | No | TOPMed | |
|
COSM2911262 COSM2911261 |
545 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2151614713 | 546 | E>G | No | Ensembl | |
|
TCGA novel rs1680590085 |
548 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs747466536 | 550 | K>Q | No |
ExAC TOPMed gnomAD |
|
| rs1401123440 | 551 | L>F | No | gnomAD | |
| rs113248702 | 552 | I>M | No | Ensembl | |
| rs780716440 | 552 | I>T | No |
ExAC gnomAD |
|
| rs758719170 | 553 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs750748470 | 554 | L>R | No |
ExAC gnomAD |
|
| rs1018118741 | 555 | V>L | No |
TOPMed gnomAD |
|
| rs779392501 | 556 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs757396773 | 557 | E>G | No |
ExAC gnomAD |
|
| rs754098157 | 558 | K>R | No |
ExAC gnomAD |
|
| rs1380668048 | 562 | N>S | No | gnomAD | |
| rs1680582447 | 564 | R>G | No | TOPMed | |
| rs1183907404 | 565 | I>S | No |
TOPMed gnomAD |
|
| rs1312144868 | 565 | I>V | No | gnomAD | |
| rs370428258 | 567 | N>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs368084622 | 568 | M>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1386531355 | 569 | Q>H | No |
TOPMed gnomAD |
|
| rs1680579882 | 569 | Q>L | No | Ensembl | |
| rs1428891271 | 570 | F>L | No |
TOPMed gnomAD |
|
| rs772873432 | 571 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs2151614102 | 572 | N>D | No | Ensembl | |
| rs952507792 | 573 | T>I | No |
TOPMed gnomAD |
|
| rs952507792 | 573 | T>K | No |
TOPMed gnomAD |
|
| rs769682850 | 574 | P>A | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 575 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2151560078 | 575 | D>V | No | Ensembl | |
| rs1558568509 | 575 | D>Y | No | Ensembl | |
| rs761709930 | 576 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs764888398 | 576 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs1266635956 | 577 | G>R | No |
TOPMed gnomAD |
|
| rs760460574 | 579 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs1189564664 | 584 | K>I | No |
TOPMed gnomAD |
|
|
COSM3580196 COSM3580195 |
585 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1558554933 | 585 | S>P | No | Ensembl | |
| rs561496605 | 587 | E>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1012484092 | 587 | E>K | No | gnomAD | |
| rs959686517 | 589 | E>G | No | Ensembl | |
| rs1679500624 | 589 | E>K | No | TOPMed | |
| TCGA novel | 591 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774946179 | 592 | C>R | No |
ExAC TOPMed gnomAD |
|
| rs774946179 | 592 | C>S | No |
ExAC TOPMed gnomAD |
|
| rs1454922582 | 593 | Q>* | No |
TOPMed gnomAD |
|
| rs749659099 | 593 | Q>H | No |
ExAC gnomAD |
|
| rs540086853 | 593 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1266264334 | 594 | R>K | No | gnomAD | |
| rs1679495760 | 594 | R>S | No |
TOPMed gnomAD |
|
|
COSM4093179 COSM4093180 |
595 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778178433 | 596 | K>Q | No |
ExAC gnomAD |
|
| TCGA novel | 597 | E>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1019099 COSM1592010 |
597 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs201163358 | 597 | E>D | No |
1000Genomes ExAC gnomAD |
|
| rs1034162319 | 598 | Q>H | No |
TOPMed gnomAD |
|
| rs748420023 | 598 | Q>K | No |
ExAC gnomAD |
|
| TCGA novel | 600 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs781105386 | 600 | D>H | No |
ExAC gnomAD |
|
| rs1032914723 | 601 | A>S | No |
TOPMed gnomAD |
|
| rs1679492343 | 602 | L>F | No | Ensembl | |
| rs557667575 | 602 | L>R | No |
1000Genomes TOPMed gnomAD |
|
| rs750265777 | 604 | K>R | No |
ExAC gnomAD |
|
|
COSM1019097 COSM1592011 |
605 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs765220600 | 605 | E>A | No |
ExAC gnomAD |
|
| rs1178963743 | 605 | E>Q | No | gnomAD | |
| rs1553372333 | 606 | T>I | No | Ensembl | |
| rs764027494 | 607 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs753671030 | 607 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs753671030 | 607 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs764027494 | 607 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1208220749 | 608 | S>F | No | gnomAD | |
| TCGA novel | 612 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1679485474 | 613 | M>I | No | gnomAD | |
| rs1201758801 | 614 | D>Y | No | gnomAD | |
| rs1344025343 | 615 | S>T | No | gnomAD | |
|
COSM4841088 COSM4841089 rs1270590523 |
615 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1001744395 | 616 | F>S | No |
TOPMed gnomAD |
|
| TCGA novel | 617 | N>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs764712925 | 617 | N>I | No | Ensembl | |
| rs545374077 | 618 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1679482624 | 619 | Q>E | No | TOPMed | |
| rs1446402051 | 622 | C>Y | No | gnomAD | |
| rs780052794 | 624 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs1679254584 | 624 | N>S | No | TOPMed | |
| rs1182362537 | 625 | M>V | No |
TOPMed gnomAD |
|
| rs1679253553 | 628 | S>F | No | Ensembl | |
| rs1679252421 | 631 | Q>H | No | Ensembl | |
| rs1679251466 | 632 | C>* | No | Ensembl | |
| rs1679251896 | 632 | C>S | No | Ensembl | |
| rs757237119 | 632 | C>W | No |
ExAC gnomAD |
|
| rs1679250701 | 641 | N>S | No | TOPMed | |
| rs1679250314 | 642 | N>D | No | gnomAD | |
| rs1679249943 | 643 | L>F | No | Ensembl | |
| rs1369155292 | 643 | L>P | No |
TOPMed gnomAD |
|
| rs1679249163 | 645 | L>H | No | Ensembl | |
| rs753865373 | 647 | L>F | No |
ExAC gnomAD |
|
|
COSM4093178 COSM4093177 |
647 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs770099796 | 649 | E>G | No |
ExAC gnomAD |
|
| rs1256165930 | 650 | L>P | No |
TOPMed gnomAD |
|
| TCGA novel | 652 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762239685 | 652 | E>K | No |
ExAC gnomAD |
|
| rs1022103485 | 653 | T>A | No |
TOPMed gnomAD |
|
| rs1677942605 | 653 | T>I | No | TOPMed | |
|
COSM6157773 COSM6157774 |
654 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776923346 | 654 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs148952288 | 655 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs201871479 | 656 | T>P | No |
1000Genomes ExAC gnomAD |
|
| rs1677940414 | 657 | Q>R | No | gnomAD | |
| rs780248525 | 660 | A>T | No |
ExAC gnomAD |
|
| rs772309141 | 660 | A>V | No |
ExAC gnomAD |
|
| rs77507357 | 663 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1558535611 | 664 | L>F | No | TOPMed | |
| rs777868051 | 665 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs755906029 | 666 | K>E | No |
ExAC gnomAD |
|
|
rs752534798 COSM1291481 COSM1291482 |
668 | K>R | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs144528455 | 669 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
|
rs754639750 COSM1592012 COSM1019095 |
669 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs754639750 | 669 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs914781923 | 670 | D>Y | No | gnomAD | |
| rs1677934944 | 671 | K>E | No | TOPMed | |
| TCGA novel | 671 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751213029 | 672 | L>V | No |
ExAC TOPMed gnomAD |
|
|
COSM4849869 COSM4849870 |
674 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs762475583 | 677 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs762475583 | 677 | R>M | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 678 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1677932857 | 678 | K>T | No | Ensembl | |
| rs151296844 | 679 | R>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs765724763 | 679 | R>S | No |
ExAC gnomAD |
|
| rs777028668 | 682 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs148637980 | 683 | M>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs576035492 | 685 | K>R | No | Ensembl | |
| TCGA novel | 687 | K>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1677928150 | 688 | L>P | No | gnomAD | |
| rs149446996 | 689 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs1677926929 | 690 | D>G | No |
TOPMed gnomAD |
|
| rs772221041 | 690 | D>Y | No |
ExAC gnomAD |
|
| rs745948518 | 691 | E>K | No |
ExAC gnomAD |
|
| rs894692726 | 692 | A>T | No | TOPMed | |
| rs769759639 | 693 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs1677924985 | 693 | A>T | No | Ensembl | |
| rs769759639 | 693 | A>V | No |
ExAC TOPMed gnomAD |
|
|
COSM1149063 COSM720806 rs774551081 |
694 | R>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs748087015 | 694 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1236056507 | 694 | R>M | No |
TOPMed gnomAD |
|
| rs770959079 | 696 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs867000240 | 697 | K>R | No | gnomAD | |
| rs867000240 | 697 | K>T | No | gnomAD | |
| rs1397660658 | 699 | G>R | No | gnomAD | |
| rs768444434 | 703 | L>V | No |
ExAC gnomAD |
|
| rs1350768525 | 704 | W>L | No | TOPMed | |
| rs746798833 | 704 | W>R | No |
ExAC TOPMed gnomAD |
|
| rs370513777 | 706 | E>V | No |
ExAC gnomAD |
|
| rs1385262201 | 709 | R>I | No | gnomAD | |
| rs1385262201 | 709 | R>T | No | gnomAD | |
| rs2151462833 | 710 | K>M | No | Ensembl | |
| rs1677405240 | 711 | E>* | No | Ensembl | |
| rs2151462746 | 711 | E>D | No | Ensembl | |
| rs1677405240 | 711 | E>Q | No | Ensembl | |
| rs1677404884 | 712 | E>* | No | Ensembl | |
| rs745556945 | 713 | E>* | No |
ExAC gnomAD |
|
| rs745556945 | 713 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs756739307 | 714 | E>* | No |
ExAC gnomAD |
|
| rs1677403015 | 714 | E>G | No | TOPMed | |
| rs756739307 | 714 | E>K | No |
ExAC gnomAD |
|
| rs756739307 | 714 | E>Q | No |
ExAC gnomAD |
|
| rs754313036 | 716 | Q>K | No |
ExAC gnomAD |
|
| rs1677401448 | 717 | K>M | No | Ensembl | |
| rs1677401448 | 717 | K>R | No | Ensembl | |
| rs1677401448 | 717 | K>T | No | Ensembl | |
|
COSM1019093 COSM1592013 rs1254470703 |
718 | R>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs551809311 | 718 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM477200 COSM1136647 |
720 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1341749147 | 721 | E>K | No | gnomAD | |
| rs756711322 | 722 | E>* | No |
ExAC gnomAD |
|
| rs753099885 | 722 | E>V | No |
ExAC gnomAD |
|
| TCGA novel | 724 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 724 | T>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749857755 | 724 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs1311898369 | 724 | T>P | No | gnomAD | |
| rs774747288 | 725 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs766436632 | 727 | K>E | No | ExAC | |
| TCGA novel | 728 | I>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1677395017 | 729 | Q>R | No | gnomAD | |
| rs1305982400 | 732 | E>K | No |
TOPMed gnomAD |
|
| rs776569610 | 733 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1365818286 | 733 | R>Q | No |
TOPMed gnomAD |
|
| rs776569610 | 733 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs980141247 | 734 | K>R | No |
TOPMed gnomAD |
|
|
COSM1482972 COSM1482973 |
735 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1182218696 | 735 | A>T | No | TOPMed | |
| rs1455922427 | 737 | E>K | No |
TOPMed gnomAD |
|
| rs1367455187 | 738 | K>I | No | gnomAD | |
| rs771882498 | 738 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1367455187 | 738 | K>R | No | gnomAD | |
| rs778442538 | 740 | R>C | No |
ExAC TOPMed gnomAD |
|
|
COSM2911233 COSM2911234 rs533253036 |
740 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs533253036 | 740 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs778442538 | 740 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1482813125 | 741 | K>Q | No | gnomAD | |
| rs1433493341 | 742 | D>G | No | TOPMed | |
| rs200012358 | 743 | K>E | No | 1000Genomes | |
| rs777401087 | 743 | K>M | No |
ExAC gnomAD |
|
| rs1264974436 | 744 | D>G | No |
TOPMed gnomAD |
|
| rs372166348 | 744 | D>Y | No |
ESP TOPMed gnomAD |
|
| rs1239648613 | 746 | L>V | No | gnomAD | |
| rs753298525 | 747 | K>Q | No |
ExAC gnomAD |
|
| rs368906736 | 748 | A>T | No |
ESP ExAC gnomAD |
|
| rs751750609 | 749 | E>K | No |
ExAC gnomAD |
|
| rs1213351254 | 752 | K>Q | No |
TOPMed gnomAD |
|
| rs763290734 | 753 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs763290734 | 753 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1016798185 | 753 | R>H | No | gnomAD | |
| rs113455352 | 754 | E>G | No | Ensembl | |
|
rs1362476428 COSM397198 |
754 | E>K | lung [Cosmic] | No |
cosmic curated gnomAD |
| rs1558526596 | 755 | T>I | No | TOPMed | |
| rs755331180 | 755 | T>P | No |
ExAC gnomAD |
|
| rs755331180 | 755 | T>S | No |
ExAC gnomAD |
|
| rs1457211238 | 757 | S>G | No | gnomAD | |
| rs1677237114 | 757 | S>N | No | Ensembl | |
| rs751870106 | 760 | V>E | No |
ExAC TOPMed gnomAD |
|
| rs1677236028 | 761 | N>H | No | gnomAD | |
| rs944273163 | 761 | N>S | No | gnomAD | |
| rs1677235344 | 762 | Y>C | No | Ensembl | |
| rs568177519 | 763 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1189522111 | 764 | A>P | No |
TOPMed gnomAD |
|
| rs1189522111 | 764 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs367574973 | 765 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs1677232616 | 766 | Y>* | No | TOPMed | |
| rs1302598595 | 767 | P>R | No |
TOPMed gnomAD |
|
| rs752562191 | 767 | P>S | No |
ExAC gnomAD |
|
| rs1677231610 | 769 | E>Q | No | TOPMed | |
| rs546834128 | 770 | A>T | No |
1000Genomes gnomAD |
|
| rs758303580 | 772 | N>S | No | Ensembl | |
| rs138970950 | 773 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs887029276 | 773 | H>R | No | Ensembl | |
| rs1677230258 | 773 | H>Y | No | Ensembl | |
| TCGA novel | 775 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1343776132 | 776 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1677228630 | 776 | M>K | No | TOPMed | |
| rs762475726 | 776 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs762475726 | 776 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1677227999 | 777 | S>N | No | Ensembl | |
| rs772942669 | 778 | F>L | No |
ExAC gnomAD |
|
| rs1677227307 | 781 | G>A | No | TOPMed | |
| rs1230241233 | 782 | D>N | No | gnomAD | |
| rs1677226254 | 783 | I>M | No | Ensembl | |
| rs769373625 | 783 | I>R | No |
ExAC gnomAD |
|
| rs769373625 | 783 | I>T | No |
ExAC gnomAD |
|
| rs1056199734 | 784 | I>T | No | Ensembl | |
| rs747668909 | 784 | I>V | No |
ExAC gnomAD |
|
| rs2151453967 | 785 | Q>H | No | Ensembl | |
| rs1029957537 | 787 | D>E | No | Ensembl | |
| rs990811545 | 787 | D>G | No |
TOPMed gnomAD |
|
|
COSM442658 COSM1482971 |
787 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1472454788 | 788 | E>Q | No | gnomAD | |
| COSM272246 | 790 | T>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs546355561 | 790 | T>N | No | gnomAD | |
| rs776246314 | 790 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs866573608 | 791 | V>E | No | Ensembl | |
|
rs377521295 COSM4093173 COSM4093174 |
791 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs776075309 | 794 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1223109671 | 794 | P>S | No | TOPMed | |
| rs746238382 | 795 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs772257015 | 795 | G>C | No |
ExAC gnomAD |
|
| rs746238382 | 795 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs1675890783 | 798 | Y>* | No | Ensembl | |
| rs1675891242 | 798 | Y>C | No | gnomAD | |
| rs1675891242 | 798 | Y>F | No | gnomAD | |
| rs1334804077 | 800 | S>G | No | gnomAD | |
|
COSM3933597 COSM3933596 rs866331481 |
802 | Q>* | urinary_tract [Cosmic] | No |
cosmic curated Ensembl |
| TCGA novel | 806 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1230632708 | 806 | G>V | No | gnomAD | |
| TCGA novel | 807 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1206594661 | 807 | W>G | No | TOPMed | |
| rs757448690 | 807 | W>S | No |
ExAC TOPMed gnomAD |
|
| rs760058596 | 808 | F>L | No | gnomAD | |
| rs760058596 | 808 | F>V | No | gnomAD | |
| rs2151392154 | 810 | C>R | No | Ensembl | |
| rs374228841 | 811 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1675885459 | 811 | N>Y | No |
TOPMed gnomAD |
|
| rs766350770 | 813 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs1675882282 | 814 | E>G | No | Ensembl | |
| TCGA novel | 814 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750234138 | 815 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs1164794034 | 815 | K>R | No |
TOPMed gnomAD |
|
| TCGA novel | 816 | M>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 816 | M>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765177896 | 817 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs753579835 | 819 | S>G | No | ExAC | |
| rs377548804 | 819 | S>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs760247631 | 822 | E>G | No |
ExAC gnomAD |
|
| rs1006412443 | 822 | E>K | No | Ensembl | |
| rs1006412443 | 822 | E>Q | No | Ensembl | |
| rs1558510339 | 823 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs774922380 | 823 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1675876432 | 824 | A>S | No | Ensembl | |
|
COSM3798842 COSM3798841 |
824 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772629088 | 825 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1327480135 | 826 | S>T | No | gnomAD | |
| rs1447566481 | 827 | P>L | No |
TOPMed gnomAD |
|
| rs760001258 | 827 | P>S | No |
ExAC gnomAD |
|
| rs1300917572 | 828 | K>R | No | Ensembl | |
| rs1675872400 | 829 | K>M | No |
TOPMed gnomAD |
|
| rs1675872400 | 829 | K>T | No |
TOPMed gnomAD |
|
| rs201281903 | 830 | A>T | No |
1000Genomes TOPMed gnomAD |
|
| rs1273082248 | 832 | L>F | No |
TOPMed gnomAD |
|
| rs1273082248 | 832 | L>V | No |
TOPMed gnomAD |
|
| rs867528189 | 833 | P>A | No | TOPMed | |
| rs867528189 | 833 | P>S | No | TOPMed | |
|
rs1440247493 COSM345308 |
834 | P>S | lung [Cosmic] | No |
cosmic curated gnomAD |
| rs774675994 | 835 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1675866022 | 836 | V>I | No |
TOPMed gnomAD |
|
| rs1675866022 | 836 | V>L | No |
TOPMed gnomAD |
|
| rs1455621600 | 837 | S>A | No | gnomAD | |
| rs771306107 | 837 | S>C | No |
ExAC gnomAD |
|
| rs1455621600 | 837 | S>P | No | gnomAD | |
| rs1675864613 | 838 | L>S | No | TOPMed | |
|
COSM1482970 COSM442657 |
839 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1415759171 | 841 | T>A | No | gnomAD | |
| rs1002870954 | 841 | T>I | No | TOPMed | |
| rs1415759171 | 841 | T>P | No | gnomAD | |
| rs146540075 | 843 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs146540075 | 843 | T>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs748243387 | 844 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs769702442 | 844 | S>P | No |
ExAC gnomAD |
|
| rs757324407 | 847 | P>R | No |
ExAC gnomAD |
|
| rs1675812418 | 847 | P>T | No | TOPMed | |
| rs1675811183 | 848 | L>F | No | TOPMed | |
| rs1423337180 | 848 | L>P | No |
TOPMed gnomAD |
|
| rs1675809771 | 849 | S>P | No | TOPMed | |
| rs893472315 | 850 | S>L | No | Ensembl | |
| rs140712903 | 854 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1412024683 | 856 | V>M | No | gnomAD | |
| rs1433692056 | 857 | T>I | No | TOPMed | |
| rs933080346 | 859 | Y>C | No | Ensembl | |
| rs767013020 | 861 | N>Y | No |
ExAC TOPMed gnomAD |
|
| rs1675803788 | 862 | V>I | No | TOPMed | |
| rs1203366307 | 863 | S>F | No |
TOPMed gnomAD |
|
| rs149813443 | 863 | S>P | No |
ESP ExAC gnomAD |
|
|
COSM1019091 COSM1592014 rs1203366307 |
863 | S>Y | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 866 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs766856525 | 867 | L>R | No |
ExAC gnomAD |
|
| rs1292376819 | 868 | T>P | No |
TOPMed gnomAD |
|
| rs1675799752 | 869 | V>I | No |
TOPMed gnomAD |
|
| rs1675799374 | 870 | N>S | No | TOPMed | |
| rs773591277 | 872 | S>L | No |
ExAC gnomAD |
|
| TCGA novel | 873 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1265799401 | 873 | W>G | No | TOPMed | |
| TCGA novel | 876 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1675797426 | 876 | K>R | No | Ensembl | |
|
COSM3719365 rs1675796623 COSM3719364 |
878 | A>P | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated gnomAD |
| rs974399486 | 878 | A>V | No | Ensembl | |
| rs1675795478 | 880 | T>A | No | TOPMed | |
| rs1286037953 | 880 | T>I | No |
TOPMed gnomAD |
|
| rs1286037953 | 880 | T>N | No |
TOPMed gnomAD |
|
| rs376087707 | 881 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1675794129 | 882 | T>N | No | TOPMed | |
| rs762060306 | 883 | V>L | No |
ExAC gnomAD |
|
| rs1294806839 | 884 | S>C | No |
TOPMed gnomAD |
|
| rs1294806839 | 884 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1294806839 | 884 | S>Y | No |
TOPMed gnomAD |
|
| rs985355260 | 885 | P>A | No | gnomAD | |
| rs985355260 | 885 | P>T | No | gnomAD | |
| rs1164905577 | 886 | G>R | No | gnomAD | |
| rs41281487 | 887 | S>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs775781759 | 888 | V>L | No |
ExAC gnomAD |
|
|
COSM3798840 COSM3798839 |
889 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4093172 COSM4093171 |
890 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1675788991 | 891 | I>V | No | TOPMed | |
|
COSM3910065 COSM3910064 |
892 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs41281485 | 893 | G>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs41281485 | 893 | G>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777575598 COSM3673672 COSM3673671 |
894 | Q>H | prostate [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
|
COSM1149061 COSM720808 rs764409422 |
895 | G>E | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1675297613 | 896 | Q>E | No | Ensembl | |
| rs1675297613 | 896 | Q>K | No | Ensembl | |
| rs1005373584 | 896 | Q>L | No |
TOPMed gnomAD |
|
| rs1675296676 | 897 | V>A | No | gnomAD | |
|
COSM4093169 COSM4093170 rs1252504986 |
898 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1675295722 | 898 | V>L | No | TOPMed | |
| rs1219077875 | 900 | N>S | No |
TOPMed gnomAD |
|
| rs373121938 | 904 | Q>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs775689966 | 905 | A>G | No |
ExAC gnomAD |
|
| rs775689966 | 905 | A>V | No |
ExAC gnomAD |
|
| rs1675291409 | 907 | C>F | No | TOPMed | |
| rs1204348602 | 908 | S>C | No | gnomAD | |
| rs772300952 | 909 | W>R | No |
ExAC gnomAD |
|
|
COSM4093167 COSM4093168 |
910 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs369856366 | 911 | A>T | No |
ESP TOPMed gnomAD |
|
|
COSM6157778 COSM6157777 |
912 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1675289261 | 912 | K>R | No | gnomAD | |
| rs1675288425 | 913 | K>E | No | TOPMed | |
| rs773026273 | 914 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs773026273 | 914 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs1346486887 | 916 | H>N | No | gnomAD | |
| rs769572706 | 916 | H>Q | No |
ExAC gnomAD |
|
|
COSM4133737 COSM4133738 rs1675286423 |
917 | L>F | thyroid [Cosmic] | No |
cosmic curated TOPMed |
| rs747880311 | 918 | N>H | No |
ExAC TOPMed gnomAD |
|
| rs1316607920 | 920 | S>* | No | gnomAD | |
| rs781029012 | 920 | S>A | No |
ExAC gnomAD |
|
| rs1675284727 | 922 | H>R | No | Ensembl | |
| rs1381995542 | 924 | I>T | No |
TOPMed gnomAD |
|
| rs1377979189 | 926 | T>A | No | TOPMed | |
| rs754591201 | 927 | V>F | No |
ExAC gnomAD |
|
| rs1675282649 | 929 | E>G | No |
TOPMed gnomAD |
|
| rs1174501808 | 931 | Q>R | No | gnomAD | |
|
COSM1136646 rs1675281799 COSM477199 |
933 | N>D | kidney [Cosmic] | No |
cosmic curated TOPMed |
| rs376802389 | 935 | W>* | No |
ESP TOPMed gnomAD |
|
| rs376802389 | 935 | W>C | No |
ESP TOPMed gnomAD |
|
| rs1675281010 | 935 | W>L | No | TOPMed | |
| TCGA novel | 936 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1338564163 | 938 | E>D | No | gnomAD | |
|
COSM4093166 COSM4093165 |
939 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs566079251 | 939 | V>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1389555264 | 941 | G>E | No |
TOPMed gnomAD |
|
|
COSM5862245 COSM5862244 |
942 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1675276672 | 943 | R>K | No | Ensembl | |
| rs943640098 | 944 | G>E | No |
TOPMed gnomAD |
|
| rs1675276276 | 944 | G>R | No | gnomAD | |
| rs1192470864 | 946 | F>C | No |
TOPMed gnomAD |
|
| rs1442760069 | 946 | F>L | No | gnomAD | |
| TCGA novel | 948 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1208215410 | 949 | S>Y | No | gnomAD | |
| TCGA novel | 952 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4405878 rs1309123340 COSM4405877 |
956 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1255887438 | 956 | G>W | No |
TOPMed gnomAD |
|
| rs1374782848 | 957 | S>N | No |
TOPMed gnomAD |
|
| rs1476691616 | 959 | V>I | No | Ensembl | |
| rs199820366 | 961 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
|
rs547842218 COSM1211192 COSM1211191 |
961 | R>W | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| rs1675269708 | 962 | E>Q | No | gnomAD | |
| rs914032591 | 963 | E>* | No | TOPMed | |
| rs1231829614 | 967 | L>F | No |
TOPMed gnomAD |
|
| rs1674755825 | 967 | L>S | No | Ensembl | |
| rs1188024227 | 969 | A>T | No | TOPMed | |
| rs1246198079 | 969 | A>V | No |
TOPMed gnomAD |
|
| rs1355301928 | 971 | V>A | No |
TOPMed gnomAD |
|
| rs1674753159 | 972 | N>S | No | Ensembl | |
| rs757685193 | 974 | K>N | No |
ExAC gnomAD |
|
| rs754418665 | 975 | P>T | No |
ExAC gnomAD |
|
| rs778243517 | 977 | S>L | No |
ExAC TOPMed gnomAD |
|
|
COSM1153770 COSM1019089 |
978 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1464329992 | 978 | A>V | No | TOPMed | |
| rs201295238 | 980 | Y>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1674749848 | 980 | Y>D | No | TOPMed | |
| rs1424974850 | 982 | V>A | No |
TOPMed gnomAD |
|
| rs2151341302 | 982 | V>F | No | Ensembl | |
| rs1674748693 | 984 | E>G | No | TOPMed | |
| TCGA novel | 985 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1468454956 | 986 | Y>F | No | gnomAD | |
| rs1199183187 | 987 | I>V | No |
TOPMed gnomAD |
|
| rs756742871 | 988 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs748516929 | 988 | A>V | No |
ExAC gnomAD |
|
| rs1283817758 | 990 | Y>C | No | gnomAD | |
| rs2151328338 | 994 | S>G | No | Ensembl | |
| rs755130466 | 995 | V>L | No |
ExAC gnomAD |
|
| TCGA novel | 996 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 997 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 999 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1362004822 | 1000 | L>F | No | Ensembl | |
| rs1313438214 | 1000 | L>M | No |
TOPMed gnomAD |
|
| rs751825938 | 1000 | L>W | No |
ExAC gnomAD |
|
| rs1674469207 | 1001 | T>S | No | Ensembl | |
| rs886418021 | 1003 | T>I | No |
TOPMed gnomAD |
|
| rs1274539628 | 1004 | E>G | No |
TOPMed gnomAD |
|
| rs766325505 | 1005 | G>D | No | ExAC | |
| rs1558492603 | 1008 | I>M | No | TOPMed | |
| rs1415846586 | 1010 | V>A | No | gnomAD | |
| rs750564014 | 1010 | V>M | No |
ExAC gnomAD |
|
| rs760649496 | 1011 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1454173028 | 1011 | T>I | No | gnomAD | |
| rs767368945 | 1014 | D>G | No |
ExAC gnomAD |
|
|
COSM3839127 COSM3839126 |
1016 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3839125 COSM3839124 |
1016 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs371892239 | 1017 | W>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs1472602870 | 1018 | W>G | No | TOPMed | |
| rs774058347 | 1019 | T>A | No |
ExAC gnomAD |
|
| rs770288630 | 1021 | S>N | No |
ExAC gnomAD |
|
| rs144152229 | 1022 | I>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs748794693 | 1022 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1674460540 | 1024 | D>Y | No | gnomAD | |
| rs1386904180 | 1025 | R>K | No |
TOPMed gnomAD |
|
| rs1674459720 | 1026 | S>N | No | TOPMed | |
| rs1233642492 | 1027 | G>V | No | gnomAD | |
| rs1277910698 | 1030 | P>Q | No | gnomAD | |
| TCGA novel | 1030 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1674457166 | 1032 | N>S | No | TOPMed | |
| rs770391864 | 1033 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs770391864 | 1033 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs1674454914 | 1036 | P>L | No | TOPMed | |
| rs1416176440 | 1036 | P>S | No | gnomAD | |
| rs1674454045 | 1037 | K>N | No | TOPMed | |
| rs1328975107 | 1037 | K>R | No | TOPMed | |
| rs1328975107 | 1037 | K>T | No | TOPMed | |
| rs1674453670 | 1038 | D>V | No | TOPMed | |
| rs1373251234 | 1039 | Q>K | No | gnomAD | |
| rs1311948804 | 1039 | Q>R | No | gnomAD | |
| rs1295976779 | 1041 | S>N | No | gnomAD | |
| rs762733333 | 1042 | F>C | No |
ExAC gnomAD |
|
| rs2151301626 | 1046 | S>R | No | Ensembl | |
| rs377235423 | 1047 | K>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1187434575 | 1048 | S>P | No | gnomAD | |
|
COSM1134543 COSM461066 |
1051 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1252680270 | 1052 | N>D | No | gnomAD | |
| rs1175574988 | 1052 | N>I | No | gnomAD | |
| rs1439217602 | 1054 | K>R | No | TOPMed | |
| TCGA novel | 1055 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1055 | P>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1195369368 | 1057 | I>T | No | gnomAD | |
| rs1553354757 | 1060 | V>E | No | TOPMed | |
| rs970863879 | 1060 | V>I | No | gnomAD | |
| rs536603640 | 1061 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1486763383 | 1063 | A>V | No | gnomAD | |
| rs776075610 | 1064 | Y>C | No |
ExAC gnomAD |
|
| rs1414397347 | 1068 | G>D | No |
TOPMed gnomAD |
|
| rs1673722244 | 1068 | G>S | No | TOPMed | |
| rs1673720321 | 1072 | L>F | No | Ensembl | |
| rs1673719906 | 1073 | S>I | No | TOPMed | |
| rs574146488 | 1075 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs771201742 | 1075 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1453345587 | 1077 | G>A | No |
TOPMed gnomAD |
|
| rs749381614 | 1077 | G>R | No |
ExAC gnomAD |
|
| rs1395723550 | 1078 | Q>R | No | gnomAD | |
|
COSM1407020 COSM1407021 rs777752845 |
1079 | L>F | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC gnomAD |
| rs754920695 | 1080 | I>V | No |
ExAC gnomAD |
|
| rs369244541 | 1081 | L>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs751472744 | 1081 | L>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1448496809 | 1084 | K>T | No | gnomAD | |
| rs376221823 | 1087 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs1206059900 | 1087 | T>K | No | TOPMed | |
| rs1483377609 | 1094 | E>Q | No | gnomAD | |
| rs1394601292 | 1097 | A>T | No |
TOPMed gnomAD |
|
| rs1573992943 | 1099 | G>E | No | Ensembl | |
| rs1336752404 | 1100 | K>N | No |
TOPMed gnomAD |
|
| rs756889559 | 1100 | K>R | No |
ExAC gnomAD |
|
|
rs763594277 COSM1019085 COSM1592016 |
1102 | R>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs763594277 | 1102 | R>G | No |
ExAC TOPMed gnomAD |
|
|
rs755592783 COSM1407019 COSM1407018 |
1102 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1673440878 | 1103 | Q>K | No | Ensembl | |
| TCGA novel | 1104 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1167326761 | 1106 | W>C | No | gnomAD | |
| TCGA novel | 1108 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1042593994 | 1111 | H>L | No |
TOPMed gnomAD |
|
| rs1367698367 | 1111 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1419827441 | 1112 | V>I | No | gnomAD | |
| rs1673437081 | 1113 | K>* | No | TOPMed | |
| rs768009822 | 1114 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs1673434842 | 1116 | G>D | No | Ensembl | |
| rs150778548 | 1116 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs561513632 | 1117 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1183373665 | 1118 | S>I | No |
TOPMed gnomAD |
|
| rs1183373665 | 1118 | S>N | No |
TOPMed gnomAD |
|
| TCGA novel | 1119 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs763194281 | 1120 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs766675476 | 1120 | E>Q | No |
ExAC gnomAD |
|
|
COSM4853061 COSM4853060 |
1121 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1127 | H>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3991213 COSM3991212 |
1128 | P>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs369959748 | 1128 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1160008825 | 1129 | V>G | No | gnomAD | |
| rs970507910 | 1130 | C>F | No | Ensembl | |
| rs202114029 | 1130 | C>R | No |
ExAC TOPMed gnomAD |
|
| rs2151288670 | 1133 | I>V | No | Ensembl | |
| rs752171365 | 1135 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs755864479 | 1135 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs755864479 | 1135 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1212192983 | 1137 | D>N | No | gnomAD | |
| rs1673360151 | 1138 | Y>H | No | TOPMed | |
| rs1558478429 | 1138 | Y>S | No | Ensembl | |
| rs2151288521 | 1140 | A>T | No | Ensembl | |
| rs755428344 | 1141 | N>S | No |
ExAC gnomAD |
|
| rs1225739810 | 1142 | N>S | No | gnomAD | |
| rs752091654 | 1143 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1308666029 | 1145 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs766696152 | 1147 | S>R | No |
ExAC gnomAD |
|
| rs529026492 | 1147 | S>T | No |
1000Genomes ExAC gnomAD |
|
| rs750854443 | 1152 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs750854443 | 1152 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs765369357 | 1152 | Q>L | No |
ExAC TOPMed gnomAD |
|
| rs2151288299 | 1155 | N>D | No | Ensembl | |
| rs1673352253 | 1156 | V>F | No | Ensembl | |
| rs776806777 | 1157 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs1362313714 | 1158 | N>K | No | TOPMed | |
| rs768892970 | 1158 | N>S | No |
ExAC gnomAD |
|
| rs1381786388 | 1162 | P>S | No |
TOPMed gnomAD |
|
| rs371100189 | 1165 | W>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs1673347222 | 1168 | E>D | No | gnomAD | |
| rs1397423491 | 1168 | E>G | No |
TOPMed gnomAD |
|
|
COSM442656 COSM1482969 |
1168 | E>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs749035374 | 1169 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs770959633 | 1169 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1000496533 | 1170 | N>I | No |
TOPMed gnomAD |
|
| rs1000496533 | 1170 | N>S | No |
TOPMed gnomAD |
|
| rs1673344071 | 1171 | G>A | No | Ensembl | |
| rs367952937 | 1171 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs561453795 | 1172 | V>L | No |
1000Genomes TOPMed gnomAD |
|
| rs561453795 | 1172 | V>M | No |
1000Genomes TOPMed gnomAD |
|
| rs1673341884 | 1173 | T>A | No | Ensembl | |
| rs1350232575 | 1174 | G>S | No | gnomAD | |
| rs1218626491 | 1179 | N>K | No | gnomAD | |
| rs368615176 | 1181 | V>D | No | Ensembl | |
|
COSM3695419 COSM3695420 rs755203715 |
1181 | V>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1673337819 | 1182 | K>Q | No | Ensembl | |
| rs780640516 | 1183 | M>I | No |
ExAC gnomAD |
|
| TCGA novel | 1183 | M>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs112408968 | 1184 | T>A | No | Ensembl | |
|
COSM1211190 rs200963427 COSM1211189 |
1184 | T>M | large_intestine [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 1185 | T>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752001650 | 1185 | T>A | No |
ExAC gnomAD |
|
| rs780408323 | 1187 | S>A | No |
ExAC gnomAD |
|
| rs1172267831 | 1187 | S>L | No |
TOPMed gnomAD |
|
| rs759008719 | 1188 | D>N | No |
ExAC gnomAD |
|
| rs201649123 | 1192 | Q>P | No |
1000Genomes ExAC gnomAD |
|
| rs201649123 | 1192 | Q>R | No |
1000Genomes ExAC gnomAD |
|
|
rs901515281 TCGA novel |
1193 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
TOPMed gnomAD NCI-TCGA |
| rs901515281 | 1193 | W>C | No |
TOPMed gnomAD |
|
| rs1481037285 | 1194 | C>F | No |
TOPMed gnomAD |
|
| rs1481037285 | 1194 | C>Y | No |
TOPMed gnomAD |
|
|
COSM1019079 COSM1592018 |
1196 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs779651749 | 1196 | D>N | No |
ExAC gnomAD |
|
| rs1202408483 | 1197 | L>V | No |
TOPMed gnomAD |
|
| rs1573900800 | 1199 | T>P | No | Ensembl | |
| rs944309934 | 1202 | T>A | No |
TOPMed gnomAD |
|
| rs979392987 | 1203 | M>I | No |
TOPMed gnomAD |
|
| rs750973042 | 1203 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1311645548 | 1205 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1229629770 | 1206 | I>T | No |
TOPMed gnomAD |
|
| rs76543468 | 1206 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1670400746 | 1207 | E>K | No | gnomAD | |
| TCGA novel | 1208 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1445247966 | 1211 | Q>* | No | gnomAD | |
| TCGA novel | 1212 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757822925 | 1212 | G>S | No | Ensembl | |
| rs767656704 | 1213 | Y>C | No |
ExAC gnomAD |
|
| rs752698156 | 1213 | Y>H | No |
ExAC gnomAD |
|
| rs1366929200 | 1214 | I>L | No | gnomAD | |
| rs1290188548 | 1214 | I>S | No |
TOPMed gnomAD |
|
| rs1410280692 | 1219 | Q>E | No | gnomAD | |
| rs1175367020 | 1219 | Q>H | No | gnomAD | |
| rs1670397180 | 1220 | T>I | No | Ensembl | |
| rs764954537 | 1221 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs764954537 | 1221 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs550433341 | 1223 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs550433341 | 1223 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1467025085 | 1223 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs746720955 | 1225 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs774824375 | 1225 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs746720955 | 1225 | M>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1227 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771619819 | 1227 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs1323928417 | 1229 | Q>* | No |
TOPMed gnomAD |
|
| rs1323928417 | 1229 | Q>E | No |
TOPMed gnomAD |
|
| rs1389083288 | 1230 | L>F | No | gnomAD | |
| rs373107209 | 1231 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM6091132 COSM6091131 COSM574606 rs150580767 COSM1142545 |
1232 | V>F | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic ESP ExAC TOPMed gnomAD |
| rs150580767 | 1232 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs150580767 | 1232 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs767428637 | 1233 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1670128362 | 1234 | V>A | No | TOPMed | |
| rs181698923 | 1234 | V>L | No | 1000Genomes | |
| rs999469934 | 1236 | Q>R | No | TOPMed | |
|
rs202237817 COSM2911181 |
1238 | R>C | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs371495788 | 1238 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs371495788 | 1238 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs763485662 | 1239 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs763485662 | 1239 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1429251935 | 1240 | A>G | No | gnomAD | |
| rs770261977 | 1243 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs770261977 | 1243 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs748537713 | 1244 | F>L | No |
ExAC gnomAD |
|
| rs768898068 | 1246 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs747252079 | 1247 | E>K | No |
ExAC gnomAD |
|
| rs780044890 | 1247 | E>V | No |
ExAC gnomAD |
|
| rs1305747094 | 1248 | G>E | No |
TOPMed gnomAD |
|
| rs1305747094 | 1248 | G>V | No |
TOPMed gnomAD |
|
| COSM1019076 | 1249 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1256596101 | 1250 | M>T | No | gnomAD | |
| rs369898979 | 1251 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1670122630 | 1255 | V>I | No | TOPMed | |
| rs1558438155 | 1256 | N>H | No | Ensembl | |
| rs750563799 | 1256 | N>K | No | ExAC | |
| rs999716798 | 1260 | L>F | No | Ensembl | |
| rs1670121340 | 1261 | I>F | No | Ensembl | |
| rs1258542915 | 1262 | M>I | No | TOPMed | |
| rs777765760 | 1262 | M>L | No |
ExAC gnomAD |
|
| rs1339996745 | 1262 | M>T | No | gnomAD | |
| rs752516358 | 1263 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs752516358 | 1263 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs752516358 | 1263 | S>Y | No |
ExAC TOPMed gnomAD |
|
| rs190425386 | 1269 | K>R | No |
1000Genomes ExAC gnomAD |
|
| rs141797059 | 1272 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs747367341 | 1272 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs141797059 | 1272 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs751456833 | 1273 | V>L | No |
ExAC gnomAD |
|
| rs751456833 | 1273 | V>M | No |
ExAC gnomAD |
|
| rs766124538 | 1274 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs758160883 | 1274 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs758160883 | 1274 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs766124538 | 1274 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1669942148 | 1275 | K>* | No | TOPMed | |
| rs749923599 | 1276 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1419639484 | 1276 | K>Q | No | TOPMed | |
| rs762338180 | 1278 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1285287175 | 1279 | G>D | No | gnomAD | |
| rs777019659 | 1279 | G>S | No |
ExAC gnomAD |
|
| rs1285287175 | 1279 | G>V | No | gnomAD | |
| rs1351654774 | 1280 | E>K | No |
TOPMed gnomAD |
|
| rs761027574 | 1281 | K>Q | No |
ExAC gnomAD |
|
| rs138733436 | 1283 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs746112140 | 1284 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs1435238402 | 1285 | Q>* | No | gnomAD | |
| rs1669939044 | 1286 | M>T | No | TOPMed | |
|
rs3731625 VAR_020193 RCV001641630 |
1287 | I>T | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs780374729 | 1288 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1669938245 | 1288 | G>V | No | Ensembl | |
| rs1669938047 | 1290 | I>M | No | TOPMed | |
| rs929099264 | 1292 | A>P | No | Ensembl | |
| rs147788725 | 1293 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1046919585 | 1294 | E>Q | No |
TOPMed gnomAD |
|
| rs756710746 | 1297 | H>P | No |
ExAC gnomAD |
|
| rs143966576 | 1297 | H>Q | No |
1000Genomes ExAC gnomAD |
|
| rs764736005 | 1297 | H>Y | No |
ExAC gnomAD |
|
| rs764554210 | 1298 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs764554210 | 1298 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1211425981 | 1299 | Q>* | No | gnomAD | |
| TCGA novel | 1303 | R>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774447213 | 1306 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs1397785004 | 1309 | L>F | No | gnomAD | |
|
rs532442838 COSM3580190 |
1309 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs749319938 | 1310 | N>S | No |
ExAC gnomAD |
|
| rs748593583 | 1312 | A>E | No | Ensembl | |
| rs748593583 | 1312 | A>V | No | Ensembl | |
| rs1573882153 | 1313 | A>S | No | Ensembl | |
| rs1361400083 | 1313 | A>V | No | gnomAD | |
| rs149888722 | 1314 | L>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs746965329 | 1315 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs1326579960 | 1317 | Q>P | No |
TOPMed gnomAD |
|
| rs370332622 | 1318 | K>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1476967377 | 1318 | K>R | No | gnomAD | |
| rs1188731987 | 1324 | D>E | No | gnomAD | |
| rs1262494630 | 1324 | D>N | No |
TOPMed gnomAD |
|
| rs1669928908 | 1325 | F>I | No |
TOPMed gnomAD |
|
| rs771996175 | 1326 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1553341912 | 1327 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1223276429 | 1328 | F>I | No | Ensembl | |
|
TCGA novel rs1223276429 |
1328 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| TCGA novel | 1330 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1669927461 | 1330 | K>T | No | Ensembl | |
| rs772116442 | 1331 | K>Q | No |
ExAC gnomAD |
|
| rs745620520 | 1333 | A>T | No |
ExAC gnomAD |
|
| rs1223348768 | 1336 | P>L | No |
TOPMed gnomAD |
|
| rs1223348768 | 1336 | P>R | No |
TOPMed gnomAD |
|
| rs749005804 | 1337 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs41281481 | 1337 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1573870936 | 1338 | C>Y | No | Ensembl | |
| TCGA novel | 1340 | G>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1312184484 | 1340 | G>V | No | gnomAD | |
| rs184065623 | 1343 | L>F | No |
1000Genomes ExAC gnomAD |
|
| rs184065623 | 1343 | L>I | No |
1000Genomes ExAC gnomAD |
|
| rs1400053540 | 1343 | L>P | No |
TOPMed gnomAD |
|
| rs1451700878 | 1344 | S>T | No |
TOPMed gnomAD |
|
| rs1669610342 | 1345 | S>N | No | TOPMed | |
| rs752259577 | 1345 | S>R | No |
ExAC gnomAD |
|
| rs1459644540 | 1346 | F>V | No | gnomAD | |
| rs1169636803 | 1346 | F>Y | No | TOPMed | |
| rs1558431628 | 1347 | L>R | No | Ensembl | |
| rs1558431614 | 1348 | L>P | No | Ensembl | |
| rs781660667 | 1349 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs755545287 | 1350 | P>H | No |
ExAC gnomAD |
|
| rs755545287 | 1350 | P>L | No |
ExAC gnomAD |
|
| rs1669608941 | 1350 | P>S | No |
TOPMed gnomAD |
|
| rs1413012438 | 1351 | M>T | No |
TOPMed gnomAD |
|
| rs1440466041 | 1351 | M>V | No |
TOPMed gnomAD |
|
| rs894425980 | 1354 | I>M | No |
TOPMed gnomAD |
|
| rs201987810 | 1355 | T>I | No |
1000Genomes ExAC gnomAD |
|
| rs763044682 | 1356 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs1253431543 | 1356 | R>H | No |
TOPMed gnomAD |
|
| rs1253431543 | 1356 | R>P | No |
TOPMed gnomAD |
|
| rs1318460078 | 1357 | Y>* | No | TOPMed | |
| rs750677319 | 1358 | P>S | No |
ExAC gnomAD |
|
| rs1669605805 | 1360 | L>F | No | TOPMed | |
| rs146765583 | 1363 | S>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs146765583 | 1363 | S>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1669431844 | 1366 | E>K | No | Ensembl | |
| rs148753185 | 1367 | N>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs148753185 | 1367 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1669430706 | 1368 | T>S | No | Ensembl | |
| rs369978184 | 1369 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs369978184 | 1369 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1217635115 | 1369 | P>S | No | TOPMed | |
| rs1669429278 | 1370 | E>* | No | TOPMed | |
| rs745409052 | 1371 | S>R | No | Ensembl | |
| rs945215384 | 1371 | S>R | No |
TOPMed gnomAD |
|
| rs1400877885 | 1372 | H>R | No |
TOPMed gnomAD |
|
| rs759328853 | 1374 | D>A | No |
ExAC gnomAD |
|
| rs759328853 | 1374 | D>V | No |
ExAC gnomAD |
|
| rs1046351012 | 1375 | H>D | No | Ensembl | |
| rs992339900 | 1375 | H>R | No | TOPMed | |
| rs774362427 | 1378 | L>R | No |
ExAC TOPMed gnomAD |
|
| rs1304554971 | 1380 | L>Q | No | gnomAD | |
| rs766288254 | 1381 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs1301517384 | 1381 | A>T | No |
TOPMed gnomAD |
|
| rs180838036 | 1383 | E>* | No |
1000Genomes TOPMed gnomAD |
|
| rs180838036 | 1383 | E>K | No |
1000Genomes TOPMed gnomAD |
|
| rs773027259 | 1384 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs773027259 | 1384 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs762729827 | 1384 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1192294524 | 1387 | E>D | No | gnomAD | |
| rs762431668 | 1387 | E>G | No | Ensembl | |
| rs957794000 | 1387 | E>K | No | TOPMed | |
| rs769410688 | 1388 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs143181667 | 1389 | C>W | No |
ESP ExAC gnomAD |
|
| rs768215533 | 1390 | S>C | No |
ExAC gnomAD |
|
| TCGA novel | 1390 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780595089 | 1394 | E>G | No |
ExAC gnomAD |
|
| rs1320259126 | 1395 | G>R | No |
TOPMed gnomAD |
|
| rs139218934 | 1397 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs759015898 | 1397 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs779443967 | 1398 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1669419510 | 1399 | K>E | No | TOPMed | |
| rs1558428793 | 1400 | E>* | No | Ensembl | |
| rs1669418397 | 1400 | E>G | No | TOPMed | |
| rs574855488 | 1402 | S>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs574855488 | 1402 | S>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs756207998 | 1404 | R>* | No |
ExAC gnomAD |
|
| rs553084105 | 1404 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs553084105 | 1404 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs766305936 | 1405 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs766305936 | 1405 | L>R | No |
ExAC TOPMed gnomAD |
|
| rs1169577857 | 1407 | W>* | No | gnomAD | |
| rs772938953 | 1409 | Q>* | No |
ExAC gnomAD |
|
|
COSM2911170 rs765043826 |
1410 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs776358901 | 1411 | H>Y | No |
ExAC gnomAD |
|
| rs1256373180 | 1412 | V>G | No | gnomAD | |
| rs372075368 | 1412 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1669413509 | 1413 | Q>* | No |
TOPMed gnomAD |
|
| rs774913948 | 1414 | C>R | No |
ExAC gnomAD |
|
| rs1669412845 | 1414 | C>Y | No | Ensembl | |
| rs746407764 | 1418 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1339797021 | 1418 | A>V | No |
TOPMed gnomAD |
|
| rs1448690176 | 1419 | E>V | No | gnomAD | |
| rs1669313281 | 1420 | Q>R | No | TOPMed | |
| rs755062486 | 1421 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs1669312213 | 1422 | I>N | No | Ensembl | |
| rs150969472 | 1422 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1490195352 | 1424 | N>T | No |
TOPMed gnomAD |
|
| rs753621324 | 1425 | S>C | No |
ExAC TOPMed gnomAD |
|
|
rs753621324 COSM720812 |
1425 | S>F | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs373396068 | 1426 | L>P | No |
ESP ExAC TOPMed gnomAD |
|
| COSM1326289 | 1426 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1272672010 | 1428 | N>H | No | gnomAD | |
| rs1012999452 | 1428 | N>S | No |
TOPMed gnomAD |
|
| rs1669309597 | 1432 | P>S | No |
TOPMed gnomAD |
|
|
rs1669308861 COSM3839123 |
1433 | R>Q | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
|
COSM1158921 rs908283641 |
1433 | R>W | pancreas [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1032998312 | 1434 | K>Q | No | Ensembl | |
| rs1397665156 | 1434 | K>R | No | gnomAD | |
| rs554100042 | 1435 | L>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1437 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1669307865 | 1437 | H>R | No | gnomAD | |
| rs1669307672 | 1438 | S>G | No | TOPMed | |
| rs376003161 | 1440 | K>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1669306701 | 1441 | L>F | No | TOPMed | |
| rs1450191306 | 1442 | Y>* | No |
TOPMed gnomAD |
|
| rs148365890 | 1442 | Y>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs773581166 | 1442 | Y>H | No |
ExAC gnomAD |
|
| rs148365890 | 1442 | Y>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs776820217 | 1444 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs1443893087 | 1447 | N>S | No | gnomAD | |
| rs1276255624 | 1448 | K>Q | No | gnomAD | |
| rs143508451 | 1448 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs371469396 | 1449 | E>D | No |
ESP TOPMed gnomAD |
|
| rs1292781942 | 1450 | L>M | No | TOPMed | |
| rs368805575 | 1452 | G>R | No |
ESP TOPMed gnomAD |
|
| rs1449400313 | 1452 | G>V | No | gnomAD | |
| rs528666431 | 1455 | F>L | No | 1000Genomes | |
| rs139986826 | 1456 | N>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs139986826 | 1456 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1233625276 | 1462 | T>I | No |
TOPMed gnomAD |
|
| rs1669300388 | 1464 | M>T | No | TOPMed | |
| rs1669300596 | 1464 | M>V | No | TOPMed | |
| COSM3426319 | 1465 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs374440871 | 1466 | K>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1002107171 | 1468 | F>S | No | TOPMed | |
| rs1669299031 | 1469 | A>V | No | Ensembl | |
| rs1418940965 | 1470 | V>D | No | gnomAD | |
| rs371503725 | 1472 | S>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs1669297861 | 1475 | E>G | No | gnomAD | |
| rs754729292 | 1476 | K>R | No |
ExAC gnomAD |
|
| rs1669297442 | 1478 | F>L | No | gnomAD | |
| TCGA novel | 1478 | F>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1335968022 | 1479 | S>T | No | TOPMed | |
|
COSM1178622 rs1202759973 |
1480 | S>L | prostate [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs763447173 | 1482 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs369035944 | 1483 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
| rs1669295790 | 1484 | A>T | No | Ensembl | |
| rs1289984856 | 1485 | Q>* | No | gnomAD | |
| rs765830146 | 1489 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs762079429 | 1490 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs762079429 | 1490 | K>Q | No |
ExAC TOPMed gnomAD |
|
|
rs768842538 COSM574610 |
1491 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
COSM1407014 rs188839242 |
1491 | T>M | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs748124399 | 1492 | P>S | No |
ExAC gnomAD |
|
| rs781063848 | 1493 | I>V | No |
ExAC gnomAD |
|
| rs1488897764 | 1496 | N>S | No | gnomAD | |
| rs1669234713 | 1497 | E>A | No | Ensembl | |
| rs768582464 | 1498 | V>I | No |
ExAC gnomAD |
|
| rs746855263 | 1499 | L>V | No |
ExAC gnomAD |
|
| rs1302190572 | 1500 | V>G | No | gnomAD | |
| rs1313662056 | 1501 | K>E | No |
TOPMed gnomAD |
|
| rs1558425543 | 1502 | L>P | No | TOPMed | |
| rs1233718374 | 1503 | P>L | No |
TOPMed gnomAD |
|
| rs758107105 | 1505 | D>E | No |
ExAC gnomAD |
|
| rs1221156118 | 1505 | D>H | No | gnomAD | |
| rs575882999 | 1506 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs575882999 | 1506 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs939491472 | 1507 | S>F | No |
TOPMed gnomAD |
|
| rs560829326 | 1507 | S>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1452725024 | 1508 | S>I | No | gnomAD | |
| rs1214104048 | 1509 | D>G | No |
TOPMed gnomAD |
|
| rs1177704296 | 1509 | D>N | No |
TOPMed gnomAD |
|
| rs1428242450 | 1512 | V>I | No | gnomAD | |
| rs761023901 | 1513 | F>L | No |
ExAC gnomAD |
|
| rs753148244 | 1517 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs1558425385 | 1517 | H>Y | No | Ensembl | |
| rs767614492 | 1518 | I>S | No |
ExAC TOPMed gnomAD |
|
| rs767614492 | 1518 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs759829536 | 1519 | D>A | No | ExAC | |
| rs759829536 | 1519 | D>G | No | ExAC | |
| COSM1019070 | 1520 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs866496080 | 1520 | R>Q | No |
TOPMed gnomAD |
|
|
rs370151156 COSM1019072 |
1520 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1573855467 | 1521 | V>I | No | Ensembl | |
| rs1669225599 | 1523 | T>I | No | Ensembl | |
| rs1669225886 | 1523 | T>P | No | TOPMed | |
| rs1669224904 | 1524 | L>F | No | Ensembl | |
| rs761779658 | 1525 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs761779658 | 1525 | R>G | No |
ExAC TOPMed gnomAD |
|
|
rs542519689 COSM5501586 |
1525 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1321664548 | 1526 | T>A | No | gnomAD | |
| rs2151092343 | 1528 | N>S | No | 1000Genomes | |
| rs1219304177 | 1529 | I>F | No |
TOPMed gnomAD |
|
| rs1219304177 | 1529 | I>V | No |
TOPMed gnomAD |
|
| COSM1019068 | 1532 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1669122741 | 1533 | T>I | No | Ensembl | |
| rs2303291 | 1534 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_021937 rs2303291 RCV001641031 |
1534 | A>T | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1357207529 | 1534 | A>V | No |
TOPMed gnomAD |
|
| rs1293800285 | 1535 | W>S | No |
TOPMed gnomAD |
|
| rs1573851164 | 1536 | V>A | No | Ensembl | |
| rs1573851164 | 1536 | V>G | No | Ensembl | |
| rs368930365 | 1536 | V>M | No |
ESP ExAC gnomAD |
|
| rs2151088261 | 1538 | K>M | No | Ensembl | |
| rs1669120247 | 1540 | K>N | No | Ensembl | |
| rs371101764 | 1541 | A>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs139389348 | 1541 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs139389348 | 1541 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs371101764 | 1541 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs201345506 | 1542 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs775484624 | 1543 | S>A | No |
ExAC TOPMed |
|
| rs988659607 | 1544 | E>A | No |
TOPMed gnomAD |
|
| rs767422542 | 1544 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1244617437 | 1545 | Q>* | No | TOPMed | |
| rs1669117545 | 1546 | Y>H | No | Ensembl | |
| rs759346352 | 1547 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs1669117154 | 1547 | I>V | No | TOPMed | |
|
rs370396104 COSM1019066 |
1548 | D>N | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1385222972 | 1549 | T>N | No | gnomAD | |
| rs770524939 | 1550 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs770524939 | 1550 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1669114584 | 1551 | K>E | No | Ensembl | |
| rs1669114365 | 1551 | K>N | No | Ensembl | |
| rs1179227041 | 1552 | K>* | No | TOPMed | |
| rs1362258968 | 1552 | K>R | No | gnomAD | |
| rs769356078 | 1553 | K>N | No |
ExAC TOPMed gnomAD |
|
|
COSM3695418 rs3208747 |
1553 | K>Q | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs140221202 | 1553 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM1019064 rs199515900 |
1554 | R>C | endometrium [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
COSM1019062 RCV001531481 rs138517130 |
1554 | R>H | endometrium [Cosmic] | No |
cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| rs1443920231 | 1555 | E>D | No |
TOPMed gnomAD |
|
| rs1277756412 | 1555 | E>K | No | gnomAD | |
| rs201234803 | 1558 | Y>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs766276113 | 1559 | Q>R | No |
ExAC gnomAD |
|
| TCGA novel | 1560 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761353210 | 1561 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs761353210 | 1561 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs776051161 | 1561 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1668752706 | 1562 | S>T | No |
TOPMed gnomAD |
|
| rs1250155634 | 1563 | Q>R | No |
TOPMed gnomAD |
|
| TCGA novel | 1564 | K>D | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs747550009 | 1564 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1473658880 | 1565 | T>I | No | TOPMed | |
| rs772552778 | 1568 | I>S | No |
ExAC gnomAD |
|
| rs772552778 | 1568 | I>T | No |
ExAC gnomAD |
|
| rs375882726 | 1569 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs779165909 | 1570 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs1001034735 | 1570 | R>H | No |
TOPMed gnomAD |
|
| rs1001034735 | 1570 | R>L | No |
TOPMed gnomAD |
|
| rs2151073045 | 1572 | M>K | No | Ensembl | |
| rs753909288 | 1572 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs751516293 | 1574 | H>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs751516293 | 1574 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs1247351715 | 1574 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs762728073 | 1576 | I>S | No |
ExAC TOPMed gnomAD |
|
| rs762728073 | 1576 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs923419099 | 1576 | I>V | No | TOPMed | |
|
CA229134 RCV000087216 rs483352731 |
1578 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM1407010 | 1583 | A>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3580189 | 1583 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764917726 | 1584 | C>F | No |
ExAC TOPMed gnomAD |
|
| rs761392631 | 1585 | K>Q | No |
ExAC gnomAD |
|
| rs1039290270 | 1586 | P>L | No | Ensembl | |
| rs1206716554 | 1588 | G>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs372764786 | 1588 | G>A | No |
ESP ExAC gnomAD |
|
| rs1668742896 | 1588 | G>R | No | TOPMed | |
| rs372764786 | 1588 | G>V | No |
ESP ExAC gnomAD |
|
| rs2151069073 | 1589 | K>E | No | Ensembl | |
| rs2151069065 | 1589 | K>R | No | Ensembl | |
| rs900815195 | 1590 | S>T | No | TOPMed | |
| rs1267167278 | 1591 | N>I | No |
TOPMed gnomAD |
|
| rs762051706 | 1591 | N>K | No | ExAC | |
| rs1267167278 | 1591 | N>S | No |
TOPMed gnomAD |
|
| rs1267167278 | 1591 | N>T | No |
TOPMed gnomAD |
|
| rs1668626716 | 1592 | P>L | No | gnomAD | |
| rs1323712993 | 1592 | P>S | No | TOPMed | |
| rs1346853949 | 1594 | C>R | No |
TOPMed gnomAD |
|
| rs776623920 | 1595 | E>A | No |
ExAC gnomAD |
|
| rs776623920 | 1595 | E>G | No |
ExAC gnomAD |
|
| rs535223480 | 1596 | I>M | No |
1000Genomes ExAC gnomAD |
|
| rs1668625972 | 1596 | I>V | No | Ensembl | |
| rs186077345 | 1597 | S>I | No |
1000Genomes TOPMed gnomAD |
|
| rs186077345 | 1597 | S>N | No |
1000Genomes TOPMed gnomAD |
|
| rs2151068916 | 1597 | S>R | No | Ensembl | |
| rs1331081172 | 1597 | S>R | No | gnomAD | |
| rs1668625160 | 1598 | M>I | No | Ensembl | |
| rs1300802566 | 1599 | G>S | No | gnomAD | |
| rs1319352614 | 1600 | S>Y | No | gnomAD | |
| COSM3839122 | 1601 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1382998867 | 1602 | S>R | No |
TOPMed gnomAD |
|
| rs762167499 | 1604 | T>I | No | Ensembl | |
| rs1573830627 | 1604 | T>P | No | Ensembl | |
| rs1668623090 | 1607 | T>I | No | Ensembl | |
| rs770951284 | 1608 | I>T | No |
ExAC gnomAD |
|
| rs1431573441 | 1611 | T>I | No | gnomAD | |
| rs1431573441 | 1611 | T>R | No | gnomAD | |
| rs748988658 | 1612 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs1477640111 | 1612 | L>H | No | gnomAD | |
| rs777743702 | 1613 | N>D | No |
ExAC gnomAD |
|
| rs777743702 | 1613 | N>H | No |
ExAC gnomAD |
|
| rs889318911 | 1616 | W>R | No | TOPMed | |
| rs571018575 | 1616 | W>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs752415142 | 1617 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs552809326 | 1619 | N>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1668619229 | 1619 | N>S | No | TOPMed | |
| rs1558416653 | 1620 | C>R | No | Ensembl | |
| rs1668618811 | 1620 | C>S | No | gnomAD | |
| rs1668618390 | 1622 | F>C | No | gnomAD | |
| rs754446445 | 1622 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs774927870 | 1623 | F>I | No |
TOPMed gnomAD |
|
| rs774927870 | 1623 | F>V | No |
TOPMed gnomAD |
|
| rs1668616586 | 1626 | D>E | No | gnomAD | |
| rs763535277 | 1627 | L>I | No |
ExAC gnomAD |
|
| rs750743467 | 1628 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs181906346 | 1630 | D>V | No |
1000Genomes ExAC gnomAD |
|
| rs776820077 | 1631 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs913786847 | 1633 | C>S | No | gnomAD | |
| rs913786847 | 1633 | C>Y | No | gnomAD | |
| rs768932596 | 1634 | L>R | No |
ExAC gnomAD |
|
| rs768577988 | 1636 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs570344889 | 1636 | L>V | No |
1000Genomes ExAC gnomAD |
|
| rs1429125047 | 1638 | D>V | No |
TOPMed gnomAD |
|
| rs1668613163 | 1639 | R>* | No | Ensembl | |
| rs1668612706 | 1640 | D>A | No | TOPMed | |
| rs749410131 | 1640 | D>E | No |
ExAC gnomAD |
|
| rs770736032 | 1640 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs1208795272 | 1641 | Q>* | No | gnomAD | |
| rs1437914061 | 1641 | Q>H | No | gnomAD | |
| TCGA novel | 1641 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1668611918 | 1643 | S>P | No | TOPMed | |
| rs1221345441 | 1646 | D>G | No | gnomAD | |
| rs1668611699 | 1646 | D>N | No | Ensembl | |
| rs1668554441 | 1647 | F>I | No |
TOPMed gnomAD |
|
| rs757782628 | 1648 | L>P | No |
ExAC gnomAD |
|
| rs754161315 | 1649 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs369005913 | 1650 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs369005913 | 1650 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs140972907 | 1650 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs752947929 | 1651 | T>N | No |
ExAC gnomAD |
|
| rs202091169 | 1652 | E>A | No |
ExAC TOPMed gnomAD |
|
| rs202091169 | 1652 | E>V | No |
ExAC TOPMed gnomAD |
|
| rs376638312 | 1654 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs376638312 | 1654 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs867135874 | 1656 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
|
rs765221181 COSM1019060 |
1659 | R>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs771763669 | 1659 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs771763669 | 1659 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1178027929 | 1661 | E>Q | No | gnomAD | |
| rs1003624896 | 1662 | Q>E | No | TOPMed | |
| rs141928614 | 1662 | Q>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs201407243 | 1664 | S>R | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 1666 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746840141 | 1667 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs746840141 | 1667 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs138621323 | 1668 | M>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1263801948 | 1669 | T>I | No | gnomAD | |
| rs1263801948 | 1669 | T>S | No | gnomAD | |
| rs140804905 | 1670 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs778425636 | 1670 | R>H | No |
ExAC gnomAD |
|
| rs778425636 | 1670 | R>P | No |
ExAC gnomAD |
|
| rs201581871 | 1671 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs1363852691 | 1671 | R>Q | No | gnomAD | |
| rs749808043 | 1675 | H>R | No |
ExAC gnomAD |
|
| rs1406410398 | 1677 | V>F | No | gnomAD | |
| rs1376367661 | 1679 | T>I | No | gnomAD | |
| rs969313748 | 1679 | T>P | No |
TOPMed gnomAD |
|
| rs374322800 | 1680 | G>A | No |
ESP TOPMed |
|
| rs200311995 | 1680 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs370324989 | 1681 | E>D | No |
ESP TOPMed gnomAD |
|
| rs751653487 | 1681 | E>Q | No |
ExAC gnomAD |
|
| rs377002251 | 1683 | W>* | No |
ESP ExAC gnomAD |
|
| rs761787513 | 1685 | R>C | No |
ExAC gnomAD |
|
| rs753803177 | 1685 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs760488634 | 1686 | F>I | No |
ExAC TOPMed gnomAD |
|
| rs1668541878 | 1686 | F>S | No | gnomAD | |
| rs1668540998 | 1690 | L>P | No | TOPMed | |
| rs759191902 | 1692 | E>K | No |
ExAC gnomAD |
|
| rs1250616824 | 1694 | K>E | No | TOPMed | |
| rs1668539889 | 1694 | K>N | No | Ensembl | |
| COSM5978295 | 1695 | T>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1479447561 | 1695 | T>S | No |
TOPMed gnomAD |
|
| rs1383053234 | 1695 | T>S | No | gnomAD | |
| COSM1019058 | 1696 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1019583506 | 1696 | L>V | No | Ensembl | |
| rs147903706 | 1697 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1460452158 | 1697 | L>P | No |
TOPMed gnomAD |
|
| rs1383865430 | 1698 | L>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs766290027 | 1698 | L>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1462921126 | 1698 | L>Q | No | gnomAD | |
| rs770249697 | 1698 | L>W | No | ExAC | |
| COSM4093164 | 1698 | L>Y | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
No associated diseases with Q9NZM3
18 regional properties for Q9NZM3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 1552 - 1668 | IPR000008 |
| domain | Dbl homology (DH) domain | 1209 - 1395 | IPR000219 |
| domain | EH domain | 15 - 110 | IPR000261-1 |
| domain | EH domain | 237 - 333 | IPR000261-2 |
| domain | SH3 domain | 757 - 818 | IPR001452-1 |
| domain | SH3 domain | 898 - 956 | IPR001452-2 |
| domain | SH3 domain | 981 - 1039 | IPR001452-3 |
| domain | SH3 domain | 1053 - 1117 | IPR001452-4 |
| domain | SH3 domain | 1127 - 1186 | IPR001452-5 |
| domain | Pleckstrin homology domain | 1412 - 1566 | IPR001849 |
| domain | EF-hand domain | 54 - 89 | IPR002048-1 |
| domain | EF-hand domain | 277 - 312 | IPR002048-2 |
| binding_site | EF-Hand 1, calcium-binding site | 67 - 79 | IPR018247 |
| domain | Intersectin-2, first SH3 domain | 759 - 815 | IPR035737 |
| domain | Intersectin-2, second SH3 domain | 902 - 953 | IPR035738 |
| domain | Intersectin-2, third SH3 domain | 985 - 1036 | IPR035739 |
| domain | Intersectin-2, fourth SH3 domain | 1057 - 1115 | IPR035740 |
| domain | Intersectin-2, fifth SH3 domain | 1130 - 1183 | IPR035741 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| 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. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| intracellular vesicle | Any vesicle that is part of the intracellular region. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynaptic membrane | A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
| molecular adaptor activity | The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| clathrin-dependent synaptic vesicle endocytosis | Clathrin-dependent endocytosis of presynaptic membrane regions comprising synaptic vesicles' membrane constituents. This is a relatively slow process occurring in the range of tens of seconds. |
| endosomal transport | The directed movement of substances mediated by an endosome, a membrane-bounded organelle that carries materials enclosed in the lumen or located in the endosomal membrane. |
| positive regulation of dendrite extension | Any process that activates or increases the frequency, rate or extent of dendrite extension. |
| positive regulation of Rho protein signal transduction | Any process that activates or increases the frequency, rate or extent of Rho protein signal transduction. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| E1BKY4 | ITSN1 | Intersectin 1 | Bos taurus (Bovine) | SS |
| Q15811 | ITSN1 | Intersectin-1 | Homo sapiens (Human) | EV SS |
| Q8NFH8 | REPS2 | RalBP1-associated Eps domain-containing protein 2 | Homo sapiens (Human) | PR |
| Q9Z0R4 | Itsn1 | Intersectin-1 | Mus musculus (Mouse) | EV |
| Q9Z0R6 | Itsn2 | Intersectin-2 | Mus musculus (Mouse) | SS |
| Q9WVE9 | Itsn1 | Intersectin-1 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMAQFPTAMN | GGPNMWAITS | EERTKHDRQF | DNLKPSGGYI | TGDQARNFFL | QSGLPAPVLA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EIWALSDLNK | DGKMDQQEFS | IAMKLIKLKL | QGQQLPVVLP | PIMKQPPMFS | PLISARFGMG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SMPNLSIPQP | LPPAAPITSL | SSATSGTNLP | PLMMPTPLVP | SVSTSSLPNG | TASLIQPLPI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PYSSSTLPHG | SSYSLMMGGF | GGASIQKAQS | LIDLGSSSST | SSTASLSGNS | PKTGTSEWAV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PQPTRLKYRQ | KFNTLDKSMS | GYLSGFQARN | ALLQSNLSQT | QLATIWTLAD | VDGDGQLKAE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EFILAMHLTD | MAKAGQPLPL | TLPPELVPPS | FRGGKQIDSI | NGTLPSYQKM | QEEEPQKKLP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VTFEDKRKAN | YERGNMELEK | RRQALMEQQQ | REAERKAQKE | KEEWERKQRE | LQEQEWKKQL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ELEKRLEKQR | ELERQREEER | RKDIERREAA | KQELERQRRL | EWERIRRQEL | LNQKNREQEE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IVRLNSKKKN | LHLELEALNG | KHQQISGRLQ | DVRLKKQTQK | TELEVLDKQC | DLEIMEIKQL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QQELQEYQNK | LIYLVPEKQL | LNERIKNMQF | SNTPDSGVSL | LHKKSLEKEE | LCQRLKEQLD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ALEKETASKL | SEMDSFNNQL | KCGNMDDSVL | QCLLSLLSCL | NNLFLLLKEL | RETYNTQQLA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LEQLYKIKRD | KLKEIERKRL | ELMQKKKLED | EAARKAKQGK | ENLWKENLRK | EEEEKQKRLQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EEKTQEKIQE | EERKAEEKQR | KDKDTLKAEE | KKRETASVLV | NYRALYPFEA | RNHDEMSFNS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GDIIQVDEKT | VGEPGWLYGS | FQGNFGWFPC | NYVEKMPSSE | NEKAVSPKKA | LLPPTVSLSA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TSTSSEPLSS | NQPASVTDYQ | NVSFSNLTVN | TSWQKKSAFT | RTVSPGSVSP | IHGQGQVVEN |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LKAQALCSWT | AKKDNHLNFS | KHDIITVLEQ | QENWWFGEVH | GGRGWFPKSY | VKIIPGSEVK |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| REEPEALYAA | VNKKPTSAAY | SVGEEYIALY | PYSSVEPGDL | TFTEGEEILV | TQKDGEWWTG |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| SIGDRSGIFP | SNYVKPKDQE | SFGSASKSGA | SNKKPEIAQV | TSAYVASGSE | QLSLAPGQLI |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LILKKNTSGW | WQGELQARGK | KRQKGWFPAS | HVKLLGPSSE | RATPAFHPVC | QVIAMYDYAA |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| NNEDELSFSK | GQLINVMNKD | DPDWWQGEIN | GVTGLFPSNY | VKMTTDSDPS | QQWCADLQTL |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| DTMQPIERKR | QGYIHELIQT | EERYMADLQL | VVEVFQKRMA | ESGFLTEGEM | ALIFVNWKEL |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| IMSNTKLLKA | LRVRKKTGGE | KMPVQMIGDI | LAAELSHMQA | YIRFCSCQLN | GAALLQQKTD |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| EDTDFKEFLK | KLASDPRCKG | MPLSSFLLKP | MQRITRYPLL | IRSILENTPE | SHADHSSLKL |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| ALERAEELCS | QVNEGVREKE | NSDRLEWIQA | HVQCEGLAEQ | LIFNSLTNCL | GPRKLLHSGK |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| LYKTKSNKEL | HGFLFNDFLL | LTYMVKQFAV | SSGSEKLFSS | KSNAQFKMYK | TPIFLNEVLV |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| KLPTDPSSDE | PVFHISHIDR | VYTLRTDNIN | ERTAWVQKIK | AASEQYIDTE | KKKREKAYQA |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| RSQKTSGIGR | LMVHVIEATE | LKACKPNGKS | NPYCEISMGS | QSYTTRTIQD | TLNPKWNFNC |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| QFFIKDLYQD | VLCLTLFDRD | QFSPDDFLGR | TEIPVAKIRT | EQESKGPMTR | RLLLHEVPTG |
| 1690 | |||||
| EVWVRFDLQL | FEQKTLL |