Q99965
PR
Gene name |
ADAM2 (FTNB) |
Protein name |
Disintegrin and metalloproteinase domain-containing protein 2 |
Names |
ADAM 2, Cancer/testis antigen 15, CT15, Fertilin subunit beta, PH-30, PH30, PH30-beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2515 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q99965
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q99965-F1 | Predicted | AlphaFoldDB |
704 variants for Q99965
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4724525 rs766606554 |
2 | W>* | No |
ExAC gnomAD ClinGen |
|
|
rs569677269 CA4724524 |
3 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs569677269 CA4724523 |
3 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM138680 rs765528383 CA4724522 |
3 | R>H | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1457040 rs769082387 CA4724519 |
4 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774922405 CA371039104 CA4724517 |
5 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760212635 CA4724518 |
5 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs199802183 CA4724515 |
6 | F>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1194083667 CA371039093 |
7 | L>P | No |
gnomAD ClinGen |
|
|
CA371039089 rs1262354959 |
8 | L>F | No |
ClinGen gnomAD |
|
|
CA371039084 rs1478705635 |
9 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA371039082 rs1240283836 |
9 | S>N | No |
gnomAD ClinGen |
|
|
CA4724513 rs770804618 |
9 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA371039078 rs34800519 |
10 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_035217 CA4724512 rs34800519 |
10 | G>W | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
|
CA371039068 rs1280045198 |
11 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs143951717 CA4724511 |
12 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs143951717 CA4724510 |
12 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
COSM3382247 CA175870043 rs907635766 |
13 | G>R | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA371039052 rs1563391790 |
15 | R>L | No |
ClinGen Ensembl |
|
|
rs111349599 CA4724506 COSM187694 |
15 | R>W | large_intestine [Cosmic] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs765473656 CA4724504 |
16 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750594780 CA4724505 |
16 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1378189901 CA371039042 |
17 | D>N | No |
TOPMed gnomAD ClinGen |
|
| rs1371752525 | 18 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA175868578 rs879808707 |
21 | D>Y | No |
ClinGen Ensembl |
|
|
CA4724473 rs372759606 |
22 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4724471 rs148747755 |
25 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769423817 CA4724469 |
27 | I>L | No |
ExAC gnomAD ClinGen |
|
|
rs761698617 CA4724468 |
29 | V>I | No |
ExAC gnomAD ClinGen |
|
|
CA4724466 rs768627777 |
30 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs776517909 CA4724467 |
30 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs201075434 CA175868499 |
31 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes gnomAD ClinGen NCI-TCGA |
|
rs546194826 CA4724464 |
33 | I>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4724461 COSM1755718 rs202137427 |
34 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA4724462 rs145304406 |
34 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4724459 rs1554533600 |
35 | S>P | No |
Ensembl ClinGen |
|
|
rs1416830349 CA371038891 |
38 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1416830349 CA371038890 |
38 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756398573 CA4724458 |
40 | G>E | No |
ExAC gnomAD ClinGen |
|
|
rs1478815498 CA371038870 |
41 | I>T | No |
gnomAD ClinGen |
|
|
CA4724457 rs753155211 |
41 | I>V | No |
ExAC gnomAD ClinGen |
|
|
rs948718989 CA175868450 |
42 | E>G | No |
ClinGen Ensembl |
|
|
CA4724456 COSM750388 rs781759811 |
43 | S>L | lung Variant assessed as Somatic; 0.0 impact. skin haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
| TCGA novel | 45 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1016570218 CA175865306 |
45 | A>V | No |
ClinGen Ensembl |
|
|
rs752059739 CA4724435 |
48 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150036296 CA4724434 |
51 | I>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA175865290 rs867879609 |
52 | E>* | No |
gnomAD ClinGen |
|
|
rs1425499835 CA371038532 |
52 | E>G | No |
ClinGen gnomAD |
|
|
rs867879609 CA371038534 |
52 | E>K | No |
gnomAD ClinGen |
|
|
rs1049520156 CA175865282 |
53 | G>E | No |
ClinGen Ensembl |
|
|
CA175865285 rs889521471 |
53 | G>R | No |
Ensembl ClinGen |
|
|
rs756968994 CA4724431 |
56 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
rs756968994 CA4724430 |
56 | Y>F | No |
ExAC gnomAD ClinGen |
|
|
CA4724429 rs753494675 |
61 | M>R | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 63 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248751167 COSM3432426 CA371038442 |
64 | N>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4724407 rs372840248 |
65 | F>I | No |
ESP TOPMed ClinGen |
|
|
CA4724406 rs767346582 |
67 | P>T | No |
ExAC gnomAD ClinGen |
|
|
CA175856544 rs367685818 |
68 | H>R | No |
ClinGen ESP gnomAD |
|
|
rs1313673503 CA371038402 |
69 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4724404 rs774166901 |
71 | R>K | No |
ExAC gnomAD ClinGen |
|
|
rs1337130855 CA371038385 |
72 | V>L | No |
ClinGen gnomAD |
|
|
rs529896682 CA175856533 |
73 | Y>C | No |
Ensembl ClinGen |
|
|
rs979084286 CA175856528 |
74 | S>N | No |
Ensembl ClinGen |
|
|
CA371038361 rs1391162583 |
75 | Y>F | No |
gnomAD ClinGen |
|
|
CA371038343 rs1391832256 |
78 | T>A | No |
gnomAD ClinGen |
|
|
rs865998881 CA175856520 |
79 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
|
CA371038329 rs1305343221 |
80 | I>T | No |
ClinGen gnomAD |
|
|
rs762010599 CA4724402 |
81 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs762010599 CA4724401 |
81 | M>T | No |
ExAC gnomAD ClinGen |
|
|
rs374763046 CA4724400 |
82 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371038310 rs1159310623 |
83 | P>S | No |
ClinGen gnomAD |
|
|
CA175856503 rs559555226 |
85 | D>E | No |
ExAC gnomAD ClinGen |
|
|
rs1337812352 CA371038024 |
87 | D>N | No |
ClinGen TOPMed |
|
|
CA371038008 rs1398874416 |
89 | Q>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 90 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140185917 CA175853137 |
91 | F>L | No |
ESP TOPMed ClinGen |
|
| TCGA novel | 93 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371037963 rs1264665698 |
93 | H>R | No |
gnomAD ClinGen |
|
|
CA371037947 rs1222067210 |
95 | Q>R | No |
ClinGen gnomAD |
|
|
CA4724378 rs772433354 |
96 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4724377 rs759851853 |
97 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
CA175853084 rs1040116513 |
98 | I>T | No |
TOPMed ClinGen |
|
|
rs200460312 CA4724376 |
98 | I>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs374547596 CA371037923 |
99 | E>A | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs374547596 CA4724374 |
99 | E>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4724373 rs777335732 |
100 | G>D | No |
ExAC gnomAD ClinGen |
|
|
CA371037913 rs1335038638 |
101 | Y>H | No |
ClinGen gnomAD |
|
|
CA371037897 rs1428256012 |
103 | K>R | No |
ClinGen gnomAD |
|
|
rs370441732 CA4724371 |
107 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA175853044 rs1042606102 |
107 | M>T | No |
gnomAD ClinGen |
|
|
rs751356213 CA4724368 |
109 | S>N | No |
ExAC gnomAD ClinGen |
|
|
rs550433694 CA4724369 |
109 | S>R | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA4724365 rs376032416 |
111 | C>W | No |
ESP ExAC gnomAD ClinGen |
|
|
CA4724366 rs758474420 |
111 | C>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA371037841 rs1259065203 |
112 | T>S | No |
gnomAD ClinGen |
|
|
CA4724363 rs760693378 |
113 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1245594381 CA371037826 |
115 | R>G | No |
ClinGen gnomAD |
|
|
rs992791916 CA175853004 |
115 | R>K | No |
ClinGen TOPMed |
|
|
rs992791916 CA175852994 |
115 | R>M | No |
ClinGen TOPMed |
|
|
rs779025966 CA175852555 |
116 | G>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs779025966 CA4724345 |
116 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586153715 CA371037809 |
116 | G>S | No |
ClinGen Ensembl |
|
|
CA4724343 rs752769589 |
117 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371037801 rs1419000635 |
118 | L>I | No |
ClinGen TOPMed |
|
|
rs767769376 CA4724342 |
121 | E>* | No |
ExAC gnomAD ClinGen |
|
|
rs755224471 CA4724341 |
122 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167287637 CA371037766 |
123 | V>I | No |
TOPMed ClinGen |
|
|
CA175852510 rs545202723 |
124 | S>G | No |
TOPMed gnomAD ClinGen |
|
|
CA175852516 rs545202723 |
124 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4724340 rs766676702 CA4724339 |
126 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371037736 rs1200628238 |
127 | I>M | No |
gnomAD ClinGen |
|
|
CA4724338 rs140326284 |
128 | E>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA371037727 rs765710108 |
129 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs765710108 CA4724336 |
129 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1366813865 CA371037701 |
133 | S>* | No |
ClinGen TOPMed |
|
|
CA4724334 rs776071340 |
134 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs768215308 CA4724333 |
135 | G>S | No |
ExAC gnomAD ClinGen |
|
|
rs1269238133 CA371037689 |
135 | G>V | No |
TOPMed ClinGen |
|
|
CA371037670 rs1405386702 |
138 | H>Y | No |
gnomAD ClinGen |
|
| TCGA novel | 139 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs917035776 CA371037646 |
141 | Y>* | No |
gnomAD ClinGen |
|
|
CA175852389 rs964149862 |
141 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA371037642 rs1404268873 |
142 | Q>* | No |
ClinGen gnomAD |
|
|
rs1345192884 CA371037638 |
142 | Q>H | No |
gnomAD ClinGen |
|
| TCGA novel | 144 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771953549 CA4724330 |
145 | H>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA371037620 rs1269928274 |
145 | H>Y | No |
TOPMed ClinGen |
|
| TCGA novel | 146 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371037611 rs1241768496 |
146 | K>R | No |
TOPMed ClinGen |
|
|
CA4724328 rs778890538 |
147 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 147 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4724327 rs757201349 |
148 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4724326 rs553158681 |
148 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757291113 CA4724325 |
149 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371037594 rs1461240244 |
149 | D>G | No |
ClinGen TOPMed |
|
|
CA175852325 rs369525060 |
149 | D>H | No |
ESP TOPMed ClinGen |
|
|
rs1010406043 CA175852311 |
150 | V>I | No |
TOPMed ClinGen |
|
|
COSM278621 CA371037582 rs1486484687 |
151 | S>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA371037584 rs1400808954 |
151 | S>P | No |
TOPMed ClinGen |
|
|
CA851647629 rs1354643995 |
153 | Y>* | No |
ClinGen TOPMed |
|
|
CA4724321 rs758738225 |
153 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4724323 rs766623767 |
153 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs766623767 CA4724322 |
153 | Y>N | No |
ExAC gnomAD ClinGen |
|
|
rs376829382 CA4724319 |
155 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371037538 rs1362599595 |
157 | D>E | No |
ClinGen gnomAD |
|
|
CA4724316 rs763462265 |
157 | D>G | No |
ExAC gnomAD ClinGen |
|
|
CA371037542 rs1199889123 |
157 | D>Y | No |
ClinGen gnomAD |
|
|
rs1351250589 CA371037536 |
158 | I>V | No |
TOPMed ClinGen |
|
|
CA371037529 rs1459491882 |
159 | E>K | No |
ClinGen gnomAD |
|
|
CA371037519 rs1261771116 |
160 | S>* | No |
gnomAD ClinGen |
|
| TCGA novel | 161 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202141185 CA175852181 |
162 | D>G | No |
1000Genomes gnomAD ClinGen |
|
|
rs771902130 CA4724314 |
162 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs771902130 CA4724313 |
162 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA175852177 rs905592136 |
164 | S>F | No |
TOPMed gnomAD ClinGen |
|
|
rs1201253502 CA371037467 |
168 | Q>R | No |
gnomAD ClinGen |
|
|
COSM3413015 CA4724310 rs377755123 |
170 | V>I | central_nervous_system Variant assessed as Somatic; 4.745e-05 impact. [Cosmic, NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA371037454 rs377755123 |
170 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371037424 rs764701496 |
173 | Q>* | No |
ExAC gnomAD ClinGen |
|
|
rs764701496 CA4724298 |
173 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs534421158 CA4724297 |
175 | D>G | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1424729427 CA371037393 |
177 | A>T | No |
TOPMed ClinGen |
|
|
CA4724295 rs767276210 |
179 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759200767 CA371037373 |
180 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759200767 CA4724294 |
180 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4724293 rs774068680 |
181 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371037368 rs774068680 |
181 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4724292 rs770587099 |
182 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4724291 rs762843212 |
183 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1341408206 CA371037349 |
183 | H>R | No |
ClinGen gnomAD |
|
|
rs1383925939 CA371037340 |
185 | I>V | No |
TOPMed ClinGen |
|
|
rs772997466 CA4724290 |
186 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs978520728 CA175897250 |
187 | E>Q | No |
TOPMed ClinGen |
|
|
rs769778977 CA4724289 |
189 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4724288 rs747084707 |
189 | Q>P | No |
ExAC gnomAD ClinGen |
|
|
rs1375894528 CA371037306 |
190 | L>V | No |
ClinGen gnomAD |
|
|
CA175877466 rs1035802784 |
191 | Y>H | No |
TOPMed ClinGen |
|
|
rs1472182051 CA371037276 CA371037275 |
192 | N>K | No |
ClinGen gnomAD |
|
|
CA4724267 rs746000557 COSM750389 |
193 | H>Y | lung [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
CA4724266 rs774414465 CA371037258 |
195 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA371037254 rs1265993027 |
195 | G>V | No |
ClinGen gnomAD |
|
|
CA371037237 rs1241883428 |
198 | T>S | No |
gnomAD ClinGen |
|
|
CA175877441 rs916110908 |
199 | T>I | No |
Ensembl ClinGen |
|
|
CA371037225 rs1586102620 |
200 | V>A | No |
ClinGen Ensembl |
|
|
rs1001532653 CA175877436 |
200 | V>I | No |
ClinGen TOPMed |
|
|
rs116011947 CA4724261 |
202 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs116011947 CA4724260 |
202 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 202 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371037211 rs1228150101 |
203 | Q>* | No |
gnomAD ClinGen |
|
|
rs143527314 CA371037206 |
203 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1586102540 CA371037196 |
205 | V>A | No |
ClinGen Ensembl |
|
|
CA175877378 rs748619350 |
205 | V>F | No |
ExAC gnomAD ClinGen |
|
|
rs748619350 CA4724258 |
205 | V>I | No |
ExAC gnomAD ClinGen |
|
|
CA371037188 rs1364068875 |
206 | F>C | No |
ClinGen TOPMed |
|
|
rs1331056586 CA371037168 |
209 | I>F | No |
gnomAD ClinGen |
|
|
rs1384039342 CA371037161 |
210 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA371037163 rs950322277 CA175877351 |
210 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1384039342 CA371037159 |
210 | G>V | No |
ClinGen gnomAD |
|
|
CA4724256 COSM1737692 rs141797246 |
212 | T>M | central_nervous_system [Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA371037149 rs1383072792 |
212 | T>S | No |
gnomAD ClinGen |
|
|
rs764909682 CA4724232 |
215 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318333677 CA371037119 |
215 | I>N | No |
ClinGen TOPMed |
|
|
rs1216288976 CA371037112 |
216 | F>S | No |
ClinGen TOPMed |
|
|
rs201434967 CA175876861 |
217 | V>I | No |
1000Genomes gnomAD ClinGen |
|
|
rs866239502 CA175876842 |
218 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757024010 CA4724231 |
220 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA4724230 rs543250139 |
222 | T>I | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA371037070 rs1246849873 |
223 | I>V | No |
TOPMed gnomAD ClinGen |
|
|
rs763935625 CA4724229 |
225 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1205486805 CA371037053 |
226 | S>T | No |
ClinGen TOPMed |
|
|
CA371037046 rs1447592348 |
227 | S>P | No |
gnomAD ClinGen |
|
|
rs766436527 CA4724226 |
228 | L>M | No |
ExAC gnomAD ClinGen |
|
|
CA371037031 rs1411545489 |
229 | E>G | No |
gnomAD ClinGen |
|
|
rs529358916 CA4724224 |
230 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC gnomAD ClinGen NCI-TCGA |
|
rs529358916 CA4724225 |
230 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371037017 rs1424824067 |
231 | W>* | No |
ClinGen gnomAD |
|
|
rs1161041168 CA371037009 |
232 | I>M | No |
ClinGen gnomAD |
|
|
CA371037010 rs770193799 |
232 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4724223 rs770193799 |
232 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201482345 CA4724221 |
233 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371037006 rs1233758941 |
233 | D>G | No |
gnomAD ClinGen |
|
|
rs184050936 CA4724222 |
233 | D>H | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs184050936 CA175876745 |
233 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768912995 CA4724220 |
234 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs747499436 CA4724219 |
238 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780455390 CA4724218 |
238 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371036968 rs1361605944 |
239 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs771578922 CA4724217 |
241 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 242 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 242 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138748616 CA175876686 |
243 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs138748616 CA4724216 |
243 | A>T | No |
ESP ExAC gnomAD ClinGen |
|
|
rs778523904 CA4724215 |
244 | N>H | No |
ExAC gnomAD ClinGen |
|
|
CA175876669 rs1017740791 |
244 | N>T | No |
ClinGen Ensembl |
|
|
rs200651169 CA4724212 |
246 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs181097456 CA4724211 |
248 | H>P | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1405499723 CA371036908 |
248 | H>Q | No |
ClinGen gnomAD |
|
|
CA371036911 rs1300538842 |
248 | H>Y | No |
TOPMed ClinGen |
|
|
rs1375164142 CA371036905 |
249 | T>A | No |
TOPMed ClinGen |
|
|
COSM1644364 rs752643285 CA4724210 |
249 | T>I | salivary_gland Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1321051712 CA371036897 |
250 | F>S | No |
gnomAD ClinGen |
|
|
CA4724209 rs767398062 |
252 | R>G | No |
ExAC gnomAD ClinGen |
|
|
rs763107419 CA4724208 |
252 | R>K | No |
ExAC gnomAD ClinGen |
|
|
rs868563447 COSM265221 CA175876631 |
253 | W>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
Ensembl ClinGen cosmic curated NCI-TCGA |
|
CA4724207 rs750593670 |
253 | W>R | No |
ExAC gnomAD ClinGen |
|
|
CA371036865 rs1223982697 |
255 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 255 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 255 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371036855 rs1411703210 |
256 | S>F | No |
gnomAD ClinGen |
|
|
CA371036852 rs1239653414 |
257 | Y>D | No |
ClinGen gnomAD |
|
|
rs765409025 CA4724205 |
259 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4724204 rs372523098 COSM3784149 |
261 | R>C | prostate [Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA4724203 rs144909512 |
261 | R>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1043056041 CA175876602 |
262 | P>L | No |
ClinGen Ensembl |
|
|
CA4724201 rs116616748 |
262 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4724202 rs116616748 |
262 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371036805 rs1286693782 |
265 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs776087556 CA4724200 |
266 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1326747973 CA371036783 |
268 | L>S | No |
ClinGen gnomAD |
|
|
rs1178003552 CA371036777 |
269 | L>F | No |
ClinGen TOPMed |
|
|
CA175876589 rs867363627 |
270 | V>F | No |
ClinGen Ensembl |
|
|
rs754123040 CA4724185 |
271 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450486829 CA371036749 |
272 | R>G | No |
TOPMed ClinGen |
|
|
rs1284957124 CA371036747 |
272 | R>K | No |
ClinGen TOPMed |
|
|
CA4724184 rs764175300 |
273 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA371036727 rs1471200253 |
275 | S>T | No |
gnomAD ClinGen |
|
|
CA175875368 rs768023059 |
277 | Y>F | No |
ClinGen Ensembl |
|
|
rs373837116 CA4724183 |
278 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA175875346 rs752012309 |
280 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs767862991 CA4724180 |
280 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4724179 rs146775573 |
281 | T>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs146775573 CA4724178 |
281 | T>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1187853699 CA371036667 |
284 | G>E | No |
ClinGen TOPMed |
|
|
rs757936597 CA175875315 |
285 | K>N | No |
ClinGen TOPMed |
|
|
rs561801581 CA4724175 |
286 | M>I | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs748753139 CA371036655 |
286 | M>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4724176 rs748753139 |
286 | M>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4724174 rs376103452 |
289 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4724173 rs747836448 |
289 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371036626 rs1563356938 |
290 | N>K | No |
ClinGen Ensembl |
|
|
rs780911168 CA4724172 |
290 | N>T | No |
ExAC gnomAD ClinGen |
|
|
CA4724171 rs754800817 |
291 | Y>F | No |
ExAC gnomAD ClinGen |
|
|
CA4724170 rs746985909 |
292 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs542094562 CA4724169 COSM1721437 |
293 | G>E | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1025674397 CA175875235 |
294 | G>V | No |
ClinGen gnomAD |
|
|
CA371036591 rs1563356894 |
297 | L>M | No |
Ensembl ClinGen |
|
| TCGA novel | 298 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4724138 rs763431627 |
299 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371036562 rs763431627 |
299 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1482707561 CA371036558 |
300 | R>K | No |
ClinGen gnomAD |
|
|
CA4724135 rs369996616 |
301 | T>A | No |
ESP ExAC gnomAD ClinGen |
|
|
CA371036551 rs1211169055 |
301 | T>I | No |
ClinGen gnomAD |
|
|
CA4724136 rs369996616 |
301 | T>S | No |
ESP ExAC gnomAD ClinGen |
|
|
rs776447745 COSM336295 CA4724134 |
302 | I>V | lung [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
CA4724133 rs768366466 |
306 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs760552405 CA4724132 |
307 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs760552405 CA371036515 |
307 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4724130 rs771887468 |
309 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs376672589 CA4724131 |
309 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371036507 rs376672589 |
309 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4724129 rs745841374 |
312 | A>P | No |
ExAC gnomAD ClinGen |
|
|
rs1434205674 CA371036487 |
312 | A>V | No |
ClinGen TOPMed |
|
|
rs1053396012 CA175865958 |
313 | Q>P | No |
Ensembl ClinGen |
|
|
CA371036457 rs1303460265 |
316 | S>R | No |
gnomAD ClinGen |
|
|
CA175865931 rs934875543 |
317 | L>I | No |
ClinGen Ensembl |
|
|
CA371036450 rs576228322 |
318 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs576228322 CA4724127 |
318 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA175865921 rs923613716 |
318 | S>R | No |
Ensembl ClinGen |
|
|
rs748174539 CA4724126 CA175865889 |
319 | M>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs979057965 CA175865913 |
319 | M>V | No |
Ensembl ClinGen |
|
| TCGA novel | 321 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4724123 rs751772458 |
323 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA371036371 rs1378177074 |
329 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA371036361 rs758762108 |
330 | Q>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4724120 rs758762108 |
330 | Q>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1043151511 CA175865838 |
331 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA371036345 rs1216971512 |
332 | S>L | No |
ClinGen TOPMed |
|
|
CA4724119 rs750928292 |
333 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA371036344 rs1205310632 |
333 | G>R | No |
ClinGen gnomAD |
|
|
CA371036339 rs1208539871 |
334 | A>T | No |
ClinGen gnomAD |
|
|
CA175865823 rs545821972 |
335 | V>L | No |
Ensembl ClinGen |
|
|
CA371036326 rs1307987785 |
336 | C>F | No |
TOPMed ClinGen |
|
|
rs556054229 CA4724118 |
336 | C>R | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA371036321 rs1258347755 |
337 | I>L | No |
TOPMed gnomAD ClinGen |
|
|
CA371036320 rs1258347755 |
337 | I>V | No |
TOPMed gnomAD ClinGen |
|
|
CA4724117 rs761243547 |
340 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255884130 CA371036279 |
342 | A>V | No |
ClinGen TOPMed |
|
|
rs983408984 CA175865783 |
343 | I>F | No |
gnomAD ClinGen |
|
|
rs1296428328 CA371036276 |
343 | I>N | No |
gnomAD ClinGen |
|
|
CA371036275 rs1296428328 |
343 | I>T | No |
ClinGen gnomAD |
|
|
rs983408984 CA371036277 |
343 | I>V | No |
gnomAD ClinGen |
|
| TCGA novel | 344 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369548750 CA4724095 |
344 | H>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4724092 rs150195285 |
347 | G>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4724094 rs759259327 |
347 | G>S | No |
ExAC gnomAD ClinGen |
|
|
CA4724093 rs150195285 |
347 | G>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs981783463 CA175859060 |
348 | V>M | No |
ClinGen TOPMed |
|
|
rs1207371873 CA371035727 |
349 | K>* | No |
gnomAD ClinGen |
|
| TCGA novel | 349 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4724090 rs773106630 |
350 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4724089 rs768758728 |
350 | I>N | No |
ExAC ClinGen |
|
|
rs773106630 CA371035720 |
350 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs77413090 CA175859041 |
352 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs77413090 CA4724087 |
352 | S>N | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs746073857 CA4724085 |
352 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs77413090 CA4724086 |
352 | S>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 354 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4724084 rs779392786 |
354 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA4724083 rs140965192 |
357 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4724082 rs749851887 |
358 | D>G | No |
ExAC gnomAD ClinGen |
|
|
CA4724080 rs755707096 |
359 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA371035533 rs1368106495 |
359 | F>S | No |
gnomAD ClinGen |
|
|
CA371035515 rs1405558655 |
360 | A>V | No |
gnomAD ClinGen |
|
|
CA175858980 rs142918803 |
361 | H>Y | No |
ClinGen ESP |
|
|
CA4724079 rs368593515 |
362 | F>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA371035456 rs1457264859 |
363 | I>V | No |
gnomAD ClinGen |
|
|
CA371035364 rs1161810161 |
367 | K>N | No |
gnomAD ClinGen |
|
|
CA4724078 rs767078988 |
368 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA371035264 rs1184910566 |
372 | H>Q | No |
gnomAD ClinGen |
|
|
CA371035250 rs1258581559 |
373 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1236846172 CA371035237 |
374 | Q>K | No |
TOPMed ClinGen |
|
|
CA4724076 rs751155616 |
375 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 375 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA175858948 COSM1700015 rs764580418 |
376 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs766240507 CA4724075 |
376 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1700014 rs773158009 CA4724073 |
379 | P>S | skin [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
CA4724072 rs140120373 |
380 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1586073015 CA371035128 |
381 | F>L | No |
Ensembl ClinGen |
|
|
rs193281437 CA4724070 |
381 | F>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA371035120 rs1348597391 |
382 | K>* | No |
gnomAD ClinGen |
|
|
rs1348597391 CA371035121 |
382 | K>E | No |
ClinGen gnomAD |
|
| rs774922870 | 382 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772032081 CA4724068 |
385 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA371035089 rs1370256578 |
386 | V>A | No |
ClinGen gnomAD |
|
|
rs1446423254 CA371035078 |
388 | G>R | No |
gnomAD ClinGen |
|
|
rs1351250165 CA371035074 |
388 | G>V | No |
gnomAD ClinGen |
|
|
rs1328722600 CA851613784 |
389 | N>M | No |
ClinGen TOPMed |
|
|
rs1389794756 CA371035016 |
397 | E>K | No |
ClinGen gnomAD |
|
|
rs771452813 CA4724064 |
398 | C>Y | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs35697682 CA4724062 |
401 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA371034983 rs1191843097 |
401 | G>V | No |
TOPMed gnomAD ClinGen |
|
|
rs1272119496 CA371034967 |
404 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA175858866 rs1030244627 |
404 | Q>R | No |
ClinGen Ensembl |
|
|
CA175856879 rs1042160116 |
405 | D>A | No |
TOPMed ClinGen |
|
|
CA371034866 rs1299276647 |
405 | D>Y | No |
ClinGen gnomAD |
|
|
CA175856876 rs917246257 |
406 | C>S | No |
Ensembl ClinGen |
|
|
CA371034858 rs1432467808 |
406 | C>Y | No |
gnomAD ClinGen |
|
|
CA371034854 rs1303822810 |
407 | A>T | No |
gnomAD ClinGen |
|
|
CA4724032 rs144900135 |
408 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4724031 COSM1580431 rs759673514 |
408 | L>P | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA175856865 rs759673514 |
408 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA371034847 rs144900135 |
408 | L>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 409 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs940011789 CA175856858 |
410 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 411 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472979908 CA371034826 |
411 | E>D | No |
TOPMed ClinGen |
|
|
CA371034822 COSM1724874 rs1162436082 |
412 | T>K | NS [Cosmic] | No |
TOPMed ClinGen cosmic curated |
|
rs769213708 CA4724028 |
413 | C>* | No |
ExAC gnomAD ClinGen |
|
|
rs776540252 CA371034818 |
413 | C>G | No |
ClinGen TOPMed |
|
|
rs776540252 CA4724029 |
413 | C>R | No |
ClinGen TOPMed |
|
|
CA4724026 rs141040610 |
416 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371034795 rs1418495163 |
416 | I>V | No |
gnomAD ClinGen |
|
|
rs1484188376 CA371034781 |
418 | T>K | No |
gnomAD ClinGen |
|
|
rs569014610 CA175856803 |
421 | F>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs569014610 CA371034760 |
421 | F>Y | No |
1000Genomes gnomAD ClinGen |
|
|
rs1316805114 CA371034747 |
423 | A>P | No |
ClinGen TOPMed |
|
|
rs867402480 CA175856794 |
423 | A>V | No |
Ensembl ClinGen |
|
|
rs202127432 CA4724024 |
424 | G>S | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs1357834401 CA371034733 |
425 | S>L | No |
ClinGen TOPMed |
|
|
CA4724023 rs374307096 |
428 | A>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1284098938 CA371034706 |
429 | E>V | No |
TOPMed gnomAD ClinGen |
|
|
rs773542905 CA371034700 |
430 | G>E | No |
ExAC gnomAD ClinGen |
|
|
rs773542905 CA4724022 |
430 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770318483 CA4724021 |
431 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754836783 CA175856753 |
431 | P>T | No |
Ensembl ClinGen |
|
|
CA4724018 rs549331534 |
432 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4724020 rs777212743 |
432 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777212743 CA4724019 |
432 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 433 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4724015 rs771551128 |
434 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs202194603 CA4724016 |
434 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1410981731 CA371034663 |
436 | C>S | No |
ClinGen TOPMed gnomAD |
|
| rs778495497 | 437 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4724014 rs745560777 |
437 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1209818575 CA371034631 |
439 | M>I | No |
ClinGen gnomAD |
|
|
CA371034634 rs1380684726 |
439 | M>T | No |
ClinGen gnomAD |
|
|
rs746921200 CA175856562 |
439 | M>V | No |
Ensembl ClinGen |
|
|
CA371034621 rs1331838032 COSM1181793 |
441 | K>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA175856554 rs949536747 |
442 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs781232263 CA4723989 |
442 | E>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA371034608 rs1331706278 |
443 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs758568350 CA4723988 |
443 | R>K | No |
ClinGen ExAC |
|
|
CA371034596 rs1412896854 |
444 | M>I | No |
gnomAD ClinGen |
|
|
CA371034599 rs750464648 |
444 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4723987 rs750464648 |
444 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4723985 rs746796667 |
445 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs765359299 CA4723984 |
446 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA371034585 rs1324955294 |
446 | R>W | No |
ClinGen gnomAD |
|
|
rs757482406 CA4723980 |
448 | S>T | No |
ExAC gnomAD ClinGen |
|
|
CA4723976 rs775998804 |
453 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA371034527 rs1466484498 |
454 | L>H | No |
gnomAD ClinGen |
|
| TCGA novel | 454 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1246600685 CA371034520 |
455 | P>R | No |
gnomAD ClinGen |
|
|
rs561641317 CA175856457 |
456 | E>G | No |
ClinGen 1000Genomes |
|
|
rs1303018433 CA371034499 |
458 | C>S | No |
TOPMed ClinGen |
|
|
rs541939611 CA175856449 |
459 | N>H | No |
ClinGen 1000Genomes |
|
|
CA371034490 rs1484248962 |
459 | N>K | No |
gnomAD ClinGen |
|
|
rs373401691 CA4723975 |
459 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 460 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4723974 rs572728709 |
462 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4723973 rs773799227 |
463 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4723971 rs143851847 |
464 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143851847 CA175856430 |
464 | S>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs769505541 CA4723969 |
465 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4723967 rs781283060 |
466 | P>Q | No |
ExAC gnomAD ClinGen |
|
|
CA4723968 rs747897128 |
466 | P>T | No |
ExAC gnomAD ClinGen |
|
|
COSM1099770 rs1563343653 CA371034443 |
468 | N>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs768784812 CA4723966 |
468 | N>S | No |
ExAC gnomAD ClinGen |
|
|
rs778910492 CA4723964 |
469 | H>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA371034434 rs1288618195 |
469 | H>R | No |
TOPMed gnomAD ClinGen |
|
|
rs757329571 CA4723963 |
470 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
rs757329571 CA371034426 |
470 | Y>F | No |
ExAC gnomAD ClinGen |
|
|
rs778003916 CA4723961 |
472 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs754040009 CA4723962 |
472 | Q>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA175856387 rs149459252 |
473 | T>P | No |
ESP ClinGen |
|
|
CA371034408 rs1563343606 |
473 | T>S | No |
ClinGen Ensembl |
|
|
CA4723959 rs752991137 |
476 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA371034389 rs752991137 |
476 | P>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1427742235 CA371034386 |
477 | C>R | No |
ClinGen TOPMed |
|
|
rs139093110 CA4723957 |
479 | L>P | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 480 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs187758265 CA4723955 |
482 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 483 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA175856323 COSM373721 rs540056290 |
485 | I>T | lung [Cosmic] | No |
Ensembl ClinGen cosmic curated |
|
CA371034324 rs1230829956 |
486 | D>N | No |
ClinGen gnomAD |
|
|
rs866590172 CA175856314 |
487 | G>R | No |
ClinGen Ensembl |
|
|
CA4723952 rs769508069 |
488 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761554819 CA4723951 |
490 | M>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA371034287 rs1340852199 |
491 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA371034281 rs1314711064 |
492 | G>R | No |
ClinGen gnomAD |
|
|
CA4723949 rs768553575 |
496 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 496 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4723948 rs746960911 |
497 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA4723947 rs370916151 |
499 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA4723946 rs141717489 |
501 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 502 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775304925 CA4723923 |
504 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA175850609 rs984753736 |
504 | V>I | No |
ClinGen TOPMed |
|
|
rs771977383 CA4723922 |
506 | F>L | No |
ClinGen ExAC |
|
|
CA371033712 rs1199803915 |
507 | G>V | No |
ClinGen gnomAD |
|
|
CA371033695 rs1453580938 |
508 | P>H | No |
ClinGen gnomAD |
|
|
rs1453580938 CA371033698 |
508 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 508 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4723920 rs773338237 |
514 | H>L | No |
ExAC gnomAD ClinGen |
|
|
rs1265553559 CA371033644 |
514 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA371033624 rs1268609960 |
517 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1268609960 CA371033625 |
517 | S>T | No |
TOPMed gnomAD ClinGen |
|
|
rs748405692 CA4723918 |
518 | K>* | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 518 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142623293 CA4723917 |
520 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371033605 rs1586059809 |
520 | D>H | No |
Ensembl ClinGen |
|
|
rs549004556 CA4723916 |
521 | V>I | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1212033246 CA371033586 |
523 | G>* | No |
TOPMed ClinGen |
|
|
CA371033582 rs747338388 |
524 | N>D | No |
ExAC gnomAD ClinGen |
|
|
rs747338388 CA4723914 |
524 | N>H | No |
ExAC gnomAD ClinGen |
|
|
rs780281485 CA4723913 |
524 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA371033563 rs1278425946 |
526 | G>D | No |
ClinGen TOPMed |
|
|
rs1440279506 CA371033556 |
527 | I>M | No |
TOPMed ClinGen |
|
|
rs764883804 CA4723910 |
528 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4723908 rs753567674 |
531 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA175850482 rs200823979 |
533 | T>I | No |
1000Genomes ClinGen |
|
|
rs763783680 CA4723907 |
534 | Q>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4723906 rs372931202 |
534 | Q>R | No |
ESP ExAC gnomAD ClinGen |
|
|
CA4723905 rs775421141 |
535 | C>G | No |
ExAC gnomAD ClinGen |
|
|
rs767203463 CA4723904 |
536 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232906520 COSM1700012 CA371033503 |
536 | E>K | skin [Cosmic] | No |
TOPMed ClinGen cosmic curated |
|
rs1336387836 CA371033473 |
538 | D>E | No |
ClinGen gnomAD |
|
|
CA4723902 rs774237119 |
538 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4723903 rs370546728 |
538 | D>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4723886 rs759207976 |
540 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs759207976 CA371033461 |
540 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4723887 rs767385156 |
540 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs1484843970 CA371033458 |
541 | Q>* | No |
ClinGen gnomAD |
|
|
CA371033456 rs1343174413 |
541 | Q>R | No |
ClinGen TOPMed |
|
|
CA371033446 rs201864039 |
542 | C>* | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA371033447 rs1210750560 |
542 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1210750560 CA371033449 |
542 | C>Y | No |
TOPMed gnomAD ClinGen |
|
|
rs761884012 CA4723883 |
543 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs866331340 CA175845965 |
546 | I>L | No |
ClinGen Ensembl |
|
|
CA4723881 rs78400740 |
546 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371033411 rs1467372810 |
548 | K>Q | No |
ClinGen TOPMed |
|
|
rs1213250532 CA371033408 |
548 | K>T | No |
ClinGen gnomAD |
|
|
rs761001567 CA4723880 |
549 | Y>S | No |
ExAC gnomAD ClinGen |
|
|
rs35935433 CA4723879 |
550 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1390363004 CA371033382 |
552 | K>T | No |
TOPMed ClinGen |
|
|
rs1312394249 CA371033363 CA371033364 |
554 | L>F | No |
TOPMed gnomAD ClinGen |
|
|
CA371033362 rs1430615944 |
555 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA371033353 rs1372700414 |
556 | Q>* | No |
TOPMed gnomAD ClinGen |
|
|
CA371033355 rs1372700414 |
556 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs746177978 CA4723877 |
559 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371033322 rs1418557199 |
561 | T>S | No |
gnomAD ClinGen |
|
|
CA4723876 rs779568772 |
563 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4723875 rs771634550 |
564 | Y>F | No |
ExAC gnomAD ClinGen |
|
|
rs1254747635 CA371033293 |
565 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
rs1252635003 CA371033278 |
567 | I>T | No |
gnomAD ClinGen |
|
|
rs1483177368 CA371033281 |
567 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1202019079 CA371033266 |
569 | G>R | No |
ClinGen gnomAD |
|
|
rs777390090 CA371033225 |
575 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777390090 CA4723873 |
575 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371033205 rs1235647654 |
578 | A>S | No |
gnomAD ClinGen |
|
|
CA371033195 rs755547832 |
579 | S>N | No |
ExAC TOPMed ClinGen |
|
|
CA4723871 rs755547832 |
579 | S>T | No |
ExAC TOPMed ClinGen |
|
|
CA371033187 rs1354164749 |
580 | D>G | No |
gnomAD ClinGen |
|
|
rs1292730440 COSM1721436 CA371033181 |
581 | H>Y | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4723869 rs752420702 |
582 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA371033171 rs1375623118 |
582 | A>V | No |
gnomAD ClinGen |
|
| TCGA novel | 584 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371033159 rs1210920559 |
584 | S>N | No |
TOPMed ClinGen |
|
|
rs1462959024 CA371033161 |
584 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4723868 rs116723080 |
587 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1446828239 CA371033134 |
587 | M>T | No |
TOPMed ClinGen |
|
|
CA371033117 rs1353680173 |
589 | I>T | No |
ClinGen gnomAD |
|
|
rs1170099668 CA371033113 |
590 | K>E | No |
gnomAD ClinGen |
|
|
CA4723866 rs146789518 |
591 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4723867 rs146789518 |
591 | D>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs750333541 CA4723863 |
595 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs967393275 CA175845889 |
596 | G>C | No |
TOPMed ClinGen |
|
|
CA4723861 rs775795284 |
597 | S>* | No |
ExAC gnomAD ClinGen |
|
|
CA4723860 COSM1684876 rs775795284 |
597 | S>L | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1480128713 CA371033053 |
599 | K>N | No |
ClinGen gnomAD |
|
|
rs759835289 CA4723858 |
599 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs774637875 CA175893184 |
600 | V>F | No |
ClinGen Ensembl |
|
|
rs774681900 CA4723836 |
601 | C>S | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 603 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286602415 CA371036220 |
606 | C>R | No |
gnomAD ClinGen |
|
|
CA371036217 rs1452346886 |
606 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1395170461 CA371036211 |
607 | V>L | No |
gnomAD ClinGen |
|
|
rs1175086008 CA371036182 |
611 | Y>S | No |
ClinGen gnomAD |
|
|
CA371036168 rs138205598 |
613 | G>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4723834 rs138205598 |
613 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1194419015 CA371036161 |
614 | Y>F | No |
gnomAD ClinGen |
|
| TCGA novel | 615 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773779213 CA4723833 |
615 | D>V | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 615 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4723832 rs770129210 |
617 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1317974862 CA371036112 |
621 | C>F | No |
gnomAD ClinGen |
|
|
CA4723831 rs748681168 |
621 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA371036105 rs1453223497 |
622 | N>S | No |
ClinGen TOPMed |
|
|
CA371036099 rs1282600825 |
623 | D>A | No |
ClinGen gnomAD |
|
|
rs776057048 CA371036100 |
623 | D>H | No |
ExAC gnomAD ClinGen |
|
|
CA4723830 rs776057048 |
623 | D>N | No |
ExAC gnomAD ClinGen |
|
|
CA175893094 rs905128436 |
624 | R>T | No |
ClinGen Ensembl |
|
|
rs768126560 CA4723829 |
625 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs768126560 CA371036085 |
625 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA371036088 rs1347490483 |
625 | G>S | No |
ClinGen gnomAD |
|
|
rs768126560 CA371036084 |
625 | G>V | No |
ExAC gnomAD ClinGen |
|
|
rs925931970 CA175892787 |
626 | V>A | No |
TOPMed gnomAD ClinGen |
|
|
CA371036069 rs1432946731 |
626 | V>L | No |
TOPMed ClinGen |
|
|
rs746468059 CA4723808 |
630 | K>R | No |
ExAC gnomAD ClinGen |
|
|
CA371036031 rs1466242472 |
631 | K>R | No |
TOPMed gnomAD ClinGen |
|
|
CA4723807 rs775129586 |
632 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs373461546 CA175892784 |
632 | H>Y | No |
ClinGen ESP |
|
|
CA371036020 rs1392806128 |
633 | C>R | No |
gnomAD ClinGen |
|
|
rs745522872 CA4723805 |
635 | C>R | No |
ExAC gnomAD ClinGen |
|
|
rs778624544 CA4723804 |
636 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA371035996 rs1357527959 |
636 | S>N | No |
ClinGen TOPMed |
|
|
rs147069631 CA4723803 |
637 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4723802 rs113117613 |
639 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4723801 rs777803104 |
641 | P>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs200751889 CA4723800 |
642 | P>A | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1165417418 CA371035943 |
644 | C>F | No |
ClinGen TOPMed |
|
|
CA175892707 rs959090170 |
646 | V>I | No |
TOPMed ClinGen |
|
|
CA175892697 rs868202213 |
647 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
|
CA4723794 rs202043487 |
649 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4723795 rs202043487 |
649 | D>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA371035902 rs1231405843 |
651 | W>* | No |
TOPMed gnomAD ClinGen |
|
|
rs570332311 CA175892624 |
652 | P>L | No |
ClinGen gnomAD |
|
|
rs570332311 CA371035892 |
652 | P>R | No |
gnomAD ClinGen |
|
|
rs1279673205 CA371035888 |
653 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA371035883 rs1443893540 |
654 | G>A | No |
gnomAD ClinGen |
|
|
rs764523327 CA4723792 |
654 | G>R | No |
ClinGen ExAC |
|
|
rs761170628 CA4723791 |
655 | S>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs761170628 CA371035876 |
655 | S>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1442007931 CA371035868 |
656 | I>M | No |
TOPMed gnomAD ClinGen |
|
|
CA175892585 rs1014578269 COSM1330989 |
656 | I>T | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA371035872 rs1328591574 |
656 | I>V | No |
gnomAD ClinGen |
|
|
CA371035858 rs1244490667 |
658 | S>G | No |
TOPMed ClinGen |
|
|
CA4723790 rs551952956 |
658 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371035849 rs1324408531 |
659 | G>V | No |
gnomAD ClinGen |
|
|
rs759148517 CA4723788 |
660 | N>S | No |
ExAC gnomAD ClinGen |
|
|
CA4723787 rs774011461 |
662 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436878152 CA371035824 |
663 | P>S | No |
Ensembl ClinGen |
|
|
rs1194524479 CA371035820 |
664 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
CA371035819 rs1194524479 |
664 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1468716113 CA371035810 |
665 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4723785 rs749050722 |
666 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 667 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376114634 CA4723784 |
668 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371035790 rs1284326615 |
669 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA4723780 rs748083577 |
670 | L>H | No |
ExAC gnomAD ClinGen |
|
|
rs1586041272 CA371035771 |
672 | E>* | No |
Ensembl ClinGen |
|
|
rs200391854 CA4723756 |
674 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200391854 CA371035643 |
674 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4723755 rs111543786 |
674 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111543786 CA175890005 |
674 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA175889996 rs1026044980 |
675 | Y>N | No |
TOPMed ClinGen |
|
|
rs1355124548 CA371035630 |
676 | I>T | No |
ClinGen TOPMed |
|
|
rs757561159 CA4723753 |
679 | I>T | No |
ExAC gnomAD ClinGen |
|
|
CA371035592 rs1474407904 |
681 | H>P | No |
gnomAD ClinGen |
|
|
CA371035593 rs1474407904 |
681 | H>R | No |
ClinGen gnomAD |
|
|
CA4723751 COSM3779224 rs142592344 |
683 | K>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA371035571 rs1374614542 |
684 | P>L | No |
ClinGen TOPMed |
|
|
rs756427832 CA4723750 |
686 | R>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs201150769 CA4723748 |
687 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371035550 rs753222239 |
687 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277679464 CA371035551 |
687 | W>R | No |
ClinGen gnomAD |
|
|
rs753222239 CA4723749 |
687 | W>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs151129845 COSM1580429 CA4723747 |
688 | P>A | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs1039913110 CA175889923 |
690 | F>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1007023106 CA175889914 |
691 | L>V | No |
ClinGen gnomAD |
|
|
rs190573363 CA4723746 |
692 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1416621772 CA371035487 |
693 | I>T | No |
ClinGen gnomAD |
|
|
CA175889891 rs866751883 |
694 | P>F | No |
ClinGen Ensembl |
|
|
CA371035479 rs1353656077 |
694 | P>H | No |
gnomAD ClinGen |
|
|
rs772966320 CA4723743 |
697 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4723744 rs772966320 |
697 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4723742 rs184733219 |
698 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371035413 rs1408126119 |
700 | C>Y | No |
gnomAD ClinGen |
|
|
rs1165581581 CA371035376 |
704 | A>S | No |
gnomAD ClinGen |
|
|
CA371035379 rs1165581581 |
704 | A>T | No |
ClinGen gnomAD |
|
|
CA371035375 rs1475875197 |
704 | A>V | No |
gnomAD ClinGen |
|
|
CA4723739 rs768706110 |
707 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs746911916 CA4723738 |
709 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1487217735 CA371035307 |
711 | F>I | No |
TOPMed gnomAD ClinGen |
|
|
rs1317686368 CA371035280 |
713 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201499441 CA4723735 |
714 | K>E | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 715 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4723733 rs749546482 |
716 | W>C | No |
ClinGen ExAC gnomAD |
|
| rs764499662 | 716 | W>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200220193 CA4723732 |
717 | R>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs201873453 CA4723731 |
720 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs748442093 CA4723730 |
721 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4723728 rs755565920 |
723 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs746785098 CA4723726 |
724 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA371035149 rs200534841 |
725 | E>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4723723 rs764916569 |
725 | E>G | No |
ExAC gnomAD ClinGen |
|
|
CA4723724 rs200534841 |
725 | E>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 726 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206266193 CA371034938 |
727 | P>S | No |
ClinGen gnomAD |
|
|
rs1206266193 CA371034940 |
727 | P>T | No |
ClinGen gnomAD |
|
|
rs1472214554 CA371034920 |
729 | S>R | No |
ClinGen gnomAD |
|
|
CA371034922 rs1259082244 |
729 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs753405132 CA4723703 |
730 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA4723702 rs763983947 |
730 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4723701 rs144646998 |
733 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371034893 rs144646998 |
733 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144646998 CA4723700 |
733 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4723699 rs767373655 |
734 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs759462015 CA4723698 |
735 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs961108210 CA175888070 |
735 | G>R | No |
Ensembl ClinGen |
|
|
CA4723697 rs773334201 |
736 | G>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q99965
11 regional properties for Q99965
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPS motif | 815 - 868 | IPR000203 |
| domain | CUB domain | 30 - 159 | IPR000859 |
| repeat | Thrombospondin type-1 (TSP1) repeat | 291 - 343 | IPR000884-1 |
| repeat | Thrombospondin type-1 (TSP1) repeat | 345 - 398 | IPR000884-2 |
| repeat | Thrombospondin type-1 (TSP1) repeat | 400 - 453 | IPR000884-3 |
| repeat | Thrombospondin type-1 (TSP1) repeat | 455 - 508 | IPR000884-4 |
| domain | GPCR, family 2, extracellular hormone receptor domain | 501 - 576 | IPR001879 |
| domain | GPCR, family 2-like, transmembrane domain | 877 - 1151 | IPR017981 |
| conserved_site | GPCR, family 2, secretin-like, conserved site | 1139 - 1154 | IPR017983 |
| domain | GAIN domain, N-terminal | 595 - 793 | IPR032471 |
| domain | Adhesion G protein-coupled receptor B, N-terminal domain | 30 - 201 | IPR043838 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell surface | The external part of the cell wall and/or plasma membrane. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| integrin binding | Binding to an integrin. |
| metalloendopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| metallopeptidase activity | Catalysis of the hydrolysis of peptide bonds by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| adult behavior | Behavior in a fully developed and mature organism. |
| binding of sperm to zona pellucida | The process in which the sperm binds to the zona pellucida glycoprotein layer of the egg. The process begins with the attachment of the sperm plasma membrane to the zona pellucida and includes attachment of the acrosome inner membrane to the zona pellucida after the acrosomal reaction takes place. |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| fusion of sperm to egg plasma membrane involved in single fertilization | The binding and fusion of a sperm, with the plasma membrane of the oocyte as part of the process of single fertilization. In sperm with flagella, binding occurs at the posterior (post-acrosomal) region of the sperm head. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| visual learning | Any process in an organism in which a change in behavior of an individual occurs in response to repeated exposure to a visual cue. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8TC27 | ADAM32 | Disintegrin and metalloproteinase domain-containing protein 32 | Homo sapiens (Human) | PR |
| O43506 | ADAM20 | Disintegrin and metalloproteinase domain-containing protein 20 | Homo sapiens (Human) | PR |
| Q9UKF2 | ADAM30 | Disintegrin and metalloproteinase domain-containing protein 30 | Homo sapiens (Human) | PR |
| Q9H013 | ADAM19 | Disintegrin and metalloproteinase domain-containing protein 19 | Homo sapiens (Human) | PR |
| O35674 | Adam19 | Disintegrin and metalloproteinase domain-containing protein 19 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWRVLFLLSG | LGGLRMDSNF | DSLPVQITVP | EKIRSIIKEG | IESQASYKIV | IEGKPYTVNL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MQKNFLPHNF | RVYSYSGTGI | MKPLDQDFQN | FCHYQGYIEG | YPKSVVMVST | CTGLRGVLQF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ENVSYGIEPL | ESSVGFEHVI | YQVKHKKADV | SLYNEKDIES | RDLSFKLQSV | EPQQDFAKYI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EMHVIVEKQL | YNHMGSDTTV | VAQKVFQLIG | LTNAIFVSFN | ITIILSSLEL | WIDENKIATT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GEANELLHTF | LRWKTSYLVL | RPHDVAFLLV | YREKSNYVGA | TFQGKMCDAN | YAGGVVLHPR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TISLESLAVI | LAQLLSLSMG | ITYDDINKCQ | CSGAVCIMNP | EAIHFSGVKI | FSNCSFEDFA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HFISKQKSQC | LHNQPRLDPF | FKQQAVCGNA | KLEAGEECDC | GTEQDCALIG | ETCCDIATCR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FKAGSNCAEG | PCCENCLFMS | KERMCRPSFE | ECDLPEYCNG | SSASCPENHY | VQTGHPCGLN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QWICIDGVCM | SGDKQCTDTF | GKEVEFGPSE | CYSHLNSKTD | VSGNCGISDS | GYTQCEADNL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QCGKLICKYV | GKFLLQIPRA | TIIYANISGH | LCIAVEFASD | HADSQKMWIK | DGTSCGSNKV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| CRNQRCVSSS | YLGYDCTTDK | CNDRGVCNNK | KHCHCSASYL | PPDCSVQSDL | WPGGSIDSGN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FPPVAIPARL | PERRYIENIY | HSKPMRWPFF | LFIPFFIIFC | VLIAIMVKVN | FQRKKWRTED |
| 730 | |||||
| YSSDEQPESE | SEPKG |