Q96SM3
PR
Gene name |
CPXM1 (CPX1, CPXM, UNQ3015/PRO9782) |
Protein name |
Probable carboxypeptidase X1 |
Names |
Metallocarboxypeptidase CPX-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56265 |
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 Q96SM3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96SM3-F1 | Predicted | AlphaFoldDB |
636 variants for Q96SM3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1392366951 CA408040323 |
2 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs953090673 CA310901902 |
2 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA408040303 rs1420043993 |
4 | L>H | No |
ClinGen TOPMed |
|
|
rs921680515 CA310901901 |
5 | L>P | No |
ClinGen TOPMed |
|
|
rs1395077199 CA408040256 |
9 | A>T | No |
ClinGen TOPMed |
|
|
rs1371385985 CA408040170 |
15 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1309105422 CA408040147 |
17 | P>L | No |
ClinGen TOPMed |
|
|
CA310901875 rs964235572 |
18 | A>T | No |
ClinGen TOPMed |
|
|
rs1443252530 CA408040116 |
20 | G>A | No |
ClinGen gnomAD |
|
|
CA408040122 rs1201186999 |
20 | G>R | No |
ClinGen TOPMed |
|
|
CA9736512 rs537783470 |
21 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1020891099 CA310901859 |
22 | P>R | No |
ClinGen TOPMed |
|
|
rs1010460644 CA310901852 |
24 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA408040037 rs1276431964 |
28 | G>S | No |
ClinGen gnomAD |
|
|
rs1229074321 CA408040030 |
29 | L>F | No |
ClinGen gnomAD |
|
|
CA408040004 rs1281992711 |
31 | Q>H | No |
ClinGen gnomAD |
|
|
rs1555792422 CA408039993 |
32 | P>L | No |
ClinGen Ensembl |
|
|
rs775260953 CA408039999 |
32 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9736511 rs775260953 |
32 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745689022 CA9736509 |
33 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9736508 rs781065944 COSM3693416 |
34 | T>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs756982178 CA408039944 |
36 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1418369782 CA408039932 |
37 | V>G | No |
ClinGen gnomAD |
|
|
rs746644378 CA9736506 |
37 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA408039912 rs201928618 |
39 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201928618 CA9736504 |
39 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1020907511 CA9736502 |
40 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs17855829 CA9736501 |
40 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs892917653 CA310901788 |
41 | T>A | No |
ClinGen Ensembl |
|
|
rs779313985 CA9736500 |
41 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253786235 CA408039886 |
42 | P>A | No |
ClinGen gnomAD |
|
|
rs1330051345 CA408039880 |
42 | P>R | No |
ClinGen TOPMed |
|
|
rs1033994266 CA310901755 |
45 | H>R | No |
ClinGen Ensembl |
|
|
rs766674988 CA9736497 |
46 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1356438315 CA408039822 |
47 | S>N | No |
ClinGen gnomAD |
|
|
rs1287093503 CA408039802 |
48 | P>L | No |
ClinGen gnomAD |
|
|
rs866301382 CA310901741 |
49 | A>T | No |
ClinGen Ensembl |
|
|
rs1001212089 CA310901740 |
49 | A>V | No |
ClinGen gnomAD |
|
|
rs1289414014 CA408039771 |
51 | P>A | No |
ClinGen gnomAD |
|
|
rs1600270511 CA408039756 |
52 | P>L | No |
ClinGen Ensembl |
|
|
CA310901737 COSM1202221 rs907083086 |
53 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA9736495 rs750641203 |
56 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA408039699 rs1388019906 |
57 | N>D | No |
ClinGen gnomAD |
|
|
rs761777069 CA9736493 |
58 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 61 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781559465 CA9736459 |
62 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178026993 CA408039095 |
63 | H>R | No |
ClinGen gnomAD |
|
|
rs751801505 CA9736458 |
65 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM576864 rs758525497 CA9736455 |
65 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs758525497 CA9736456 |
65 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751801505 CA9736457 |
65 | R>W | No |
ClinGen ExAC gnomAD |
|
|
COSM178431 rs201037077 CA9736454 |
67 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs899329425 CA310899897 |
67 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA408039057 rs1482096236 |
70 | K>R | No |
ClinGen gnomAD |
|
|
rs1482096236 CA408039055 |
70 | K>T | No |
ClinGen gnomAD |
|
|
CA9736451 rs772900040 |
72 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs772900040 CA9736452 |
72 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA310899881 rs1016413743 |
73 | K>Q | No |
ClinGen Ensembl |
|
|
rs1211101609 CA408039018 |
73 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 74 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9736448 rs138905387 |
76 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9736449 rs201609222 |
76 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774023671 CA9736447 |
77 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9736443 rs770296463 |
79 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141183562 CA9736444 |
79 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781476303 CA9736441 |
80 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA408038894 rs1305206772 |
82 | L>P | No |
ClinGen TOPMed |
|
|
rs757607953 CA9736440 |
83 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs148226006 CA9736439 |
85 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9736438 rs778161412 |
86 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs144563739 CA9736437 |
86 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144563739 CA9736436 |
86 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765352046 CA9736435 |
87 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA408038839 rs1289313401 |
88 | T>A | No |
ClinGen TOPMed |
|
|
CA408038818 rs1415248352 |
89 | P>R | No |
ClinGen gnomAD |
|
|
COSM1565861 CA9736432 rs767256988 |
91 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9736430 rs773970829 |
94 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA408038760 rs1222696651 |
95 | P>H | No |
ClinGen TOPMed |
|
|
CA9736429 rs201629785 |
97 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1484584209 CA408038735 |
98 | T>I | No |
ClinGen TOPMed |
|
|
CA9736427 rs569274057 |
99 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1451875015 CA408038713 |
100 | T>I | No |
ClinGen TOPMed |
|
|
rs936601760 CA310899734 |
104 | T>A | No |
ClinGen Ensembl |
|
|
CA310899732 rs377557287 |
104 | T>N | No |
ClinGen Ensembl |
|
| TCGA novel | 105 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9736423 rs771290037 |
106 | D>G | No |
ClinGen ExAC |
|
|
CA9736424 rs777169820 |
106 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs747428703 CA9736422 |
107 | P>S | No |
ClinGen ExAC |
|
| TCGA novel | 108 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1165937 rs772440702 CA9736420 |
108 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs200410458 CA9736419 |
109 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9736418 rs779204218 |
112 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 113 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9736394 rs751492061 |
114 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9736417 rs755055647 |
114 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9736393 rs751492061 |
114 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA408038440 rs1249908290 |
116 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408038444 rs1249908290 |
116 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1480516952 CA408038379 |
120 | L>R | No |
ClinGen TOPMed |
|
|
CA9736391 COSM1025473 rs758166648 |
124 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9736390 rs371262031 |
124 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA310899338 rs973816046 |
125 | V>I | No |
ClinGen TOPMed |
|
|
CA310899336 rs892116775 |
126 | S>L | No |
ClinGen gnomAD |
|
|
CA408038268 rs1415934918 |
127 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA408038258 rs1430156899 |
128 | S>T | No |
ClinGen TOPMed |
|
|
CA9736388 rs140809004 |
129 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9736389 rs771960978 |
129 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1319701554 CA408038225 |
130 | L>P | No |
ClinGen gnomAD |
|
|
CA408038209 rs1441252821 |
131 | E>K | No |
ClinGen TOPMed |
|
|
rs765795936 CA9736386 |
131 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1018872639 CA310899315 |
132 | A>E | No |
ClinGen TOPMed |
|
|
CA9736385 rs761333983 |
132 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167134547 CA408038179 |
133 | S>P | No |
ClinGen gnomAD |
|
|
rs1167134547 CA408038181 |
133 | S>T | No |
ClinGen gnomAD |
|
|
CA9736383 rs552657097 |
134 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762292363 CA9736382 |
134 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA408038156 rs762292363 |
134 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA310899231 rs1052123505 |
136 | Q>R | No |
ClinGen Ensembl |
|
|
rs1391634250 CA408038035 |
142 | P>T | No |
ClinGen gnomAD |
|
|
CA310899214 rs200652452 CA408037999 |
143 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408037990 rs1448186605 |
144 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768929070 CA9736380 |
144 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573430362 CA9736379 |
146 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408037940 rs1254475885 |
146 | R>P | No |
ClinGen TOPMed |
|
|
CA408037942 rs1254475885 |
146 | R>Q | No |
ClinGen TOPMed |
|
|
COSM1410914 CA9736378 rs573430362 |
146 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA408037868 rs1442106654 |
148 | N>K | No |
ClinGen gnomAD |
|
|
rs769729763 CA9736377 |
149 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA408037856 rs1254359575 |
149 | I>V | No |
ClinGen gnomAD |
|
|
rs145593022 CA310899148 |
150 | Q>* | No |
ClinGen ESP TOPMed |
|
|
CA408037640 rs1405229706 |
153 | L>R | No |
ClinGen gnomAD |
|
|
CA9736354 rs141829092 |
156 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201256870 CA9736352 |
157 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
CA408037460 rs1555792246 |
160 | D>V | No |
ClinGen Ensembl |
|
|
rs145548069 CA9736348 |
161 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9736349 rs767080152 |
161 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs764567608 CA9736346 |
162 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9736347 rs764567608 |
162 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408037372 rs1300477993 |
163 | W>* | No |
ClinGen TOPMed |
|
|
CA9736345 rs763248705 |
163 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA310898939 rs753299652 |
163 | W>R | No |
ClinGen Ensembl |
|
| TCGA novel | 164 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380989895 CA408037351 |
164 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 166 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA310898933 rs371235618 |
168 | Q>P | No |
ClinGen ESP TOPMed |
|
|
rs775880735 CA9736344 |
169 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759693140 CA9736341 |
170 | A>T | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 170 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770997137 CA9736339 |
171 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9736338 rs761853806 |
173 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768593573 CA9736336 |
174 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs774136599 CA9736337 |
174 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9736335 rs149725071 |
177 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1600268466 CA408037001 |
177 | D>G | No |
ClinGen Ensembl |
|
|
rs201975900 CA9736333 |
178 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408036965 rs1462042236 |
179 | G>W | No |
ClinGen gnomAD |
|
|
CA408036912 rs1157254237 |
181 | P>R | No |
ClinGen gnomAD |
|
|
CA408036917 rs1473571910 |
181 | P>S | No |
ClinGen TOPMed |
|
|
rs745504952 CA9736332 |
183 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408036896 rs1409948765 |
183 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1158893722 CA408036878 |
184 | F>Y | No |
ClinGen gnomAD |
|
|
rs138744086 CA9736331 |
185 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9736330 rs756804430 |
186 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA408036832 rs1410937494 |
186 | G>C | No |
ClinGen gnomAD |
|
|
CA9736329 rs751030678 |
191 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 192 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9736328 rs778174770 |
193 | N>K | No |
ClinGen ExAC |
|
| TCGA novel | 195 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9736327 rs372657666 |
197 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753012953 CA9736326 |
197 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA9736303 rs760884321 |
200 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA310898657 rs1046940603 |
200 | W>R | No |
ClinGen TOPMed |
|
|
rs750483716 CA9736302 |
201 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9736301 rs767622401 |
204 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA310898647 rs1044998866 |
204 | Y>D | No |
ClinGen Ensembl |
|
|
rs1044998866 CA408036277 |
204 | Y>H | No |
ClinGen Ensembl |
|
|
rs372632758 CA9736300 |
205 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408036079 rs759435735 |
212 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA9736297 rs759435735 |
212 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs776498170 CA9736296 |
212 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408036092 rs1328648187 |
212 | S>R | No |
ClinGen TOPMed |
|
|
rs746659362 CA9736294 |
213 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1025472 CA9736295 rs770503107 |
213 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA310898619 rs896309357 |
214 | T>I | No |
ClinGen Ensembl |
|
|
CA9736291 rs748704174 |
215 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256548446 CA408036016 |
216 | W>R | No |
ClinGen TOPMed |
|
|
CA9736290 rs369918238 |
217 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408035966 rs1308179130 |
219 | R>G | No |
ClinGen gnomAD |
|
|
rs1312069424 CA408035960 |
219 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA408035933 rs1407738953 |
220 | N>K | No |
ClinGen gnomAD |
|
|
rs1357601701 CA408035938 |
220 | N>S | No |
ClinGen gnomAD |
|
|
rs755703425 CA310898604 |
225 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408035806 rs1338001654 |
226 | D>G | No |
ClinGen Ensembl |
|
|
CA9736286 rs780342169 COSM3693414 |
227 | A>T | Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA310898175 rs1005348759 |
228 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA310898185 rs1005348759 |
228 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408035543 rs1292490983 |
232 | N>K | No |
ClinGen gnomAD |
|
|
rs1209472060 CA408035555 |
232 | N>S | No |
ClinGen TOPMed |
|
|
rs771576466 CA9736274 |
234 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA408035485 rs1456361728 |
235 | P>L | No |
ClinGen gnomAD |
|
|
CA408035493 rs1165226129 |
235 | P>S | No |
ClinGen gnomAD |
|
|
CA310898168 rs374382498 |
237 | T>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9736272 rs575957091 |
244 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408035364 rs1253647837 |
245 | E>K | No |
ClinGen gnomAD |
|
|
CA9736270 rs749785851 |
246 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA310898138 rs982134045 |
247 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1162301255 CA408035318 |
247 | Q>R | No |
ClinGen TOPMed |
|
|
rs201893441 CA310898136 |
248 | V>L | No |
ClinGen 1000Genomes |
|
|
rs1258811496 CA408035293 |
249 | A>T | No |
ClinGen gnomAD |
|
|
CA408035278 rs1240897519 |
249 | A>V | No |
ClinGen gnomAD |
|
|
CA310898129 rs780353190 |
250 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780353190 CA9736269 |
250 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs41301840 CA9736268 |
250 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781504282 CA9736266 |
252 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 252 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9736265 rs757483979 |
253 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408035222 rs757483979 |
253 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9736264 rs764256097 |
253 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764256097 CA9736263 |
253 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868316533 CA310898093 |
256 | P>S | No |
ClinGen Ensembl |
|
|
rs1172339332 CA408035132 |
257 | Q>H | No |
ClinGen gnomAD |
|
|
CA408035148 rs1377385438 |
257 | Q>K | No |
ClinGen gnomAD |
|
|
CA408035125 rs1455947163 |
258 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA408035109 rs1395809186 |
259 | W>* | No |
ClinGen gnomAD |
|
|
rs1254363978 CA408035050 |
263 | G>A | No |
ClinGen gnomAD |
|
|
COSM398131 CA9736260 rs766135023 |
264 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs145346112 CA9736259 |
264 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1279317892 CA408035029 |
265 | P>S | No |
ClinGen gnomAD |
|
|
CA310898077 rs962497564 |
266 | C>G | No |
ClinGen TOPMed |
|
|
rs1043886049 CA310898068 |
268 | R>P | No |
ClinGen TOPMed |
|
|
rs1043886049 CA310898071 |
268 | R>Q | No |
ClinGen TOPMed |
|
|
CA9736257 rs368085193 |
268 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1349961499 CA408034987 |
269 | A>P | No |
ClinGen gnomAD |
|
|
CA9736256 rs375352160 |
269 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9736254 rs768153367 |
273 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9736255 rs768153367 |
273 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs763493556 CA9736253 |
273 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311407176 CA408034926 |
275 | P>L | No |
ClinGen gnomAD |
|
|
CA408034886 rs1436535061 |
280 | N>D | No |
ClinGen gnomAD |
|
|
rs757026350 CA9736222 |
280 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA9736223 rs147530232 |
280 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408033755 rs751309830 |
282 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs530851035 CA310897887 |
286 | A>T | No |
ClinGen Ensembl |
|
|
rs865839333 CA310897884 |
286 | A>V | No |
ClinGen Ensembl |
|
|
CA9736220 rs763737973 |
288 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9736218 rs148800823 |
289 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9736216 rs779523433 |
290 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs868174784 CA310897846 COSM3840637 |
291 | S>F | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA408033532 rs1392326992 |
293 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs766941206 CA9736214 |
294 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA310897817 rs755714129 |
297 | F>L | No |
ClinGen Ensembl |
|
|
CA9736211 rs772437048 |
297 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs201283131 CA9736210 |
299 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750012532 CA310897792 |
300 | H>R | No |
ClinGen Ensembl |
|
|
CA9736209 rs774561886 |
301 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA408033189 rs1234541962 |
301 | N>Y | No |
ClinGen gnomAD |
|
|
CA9736207 rs745870341 |
302 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA9736206 rs149615295 |
303 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1284084152 CA408033080 |
304 | A>S | No |
ClinGen gnomAD |
|
|
CA408033057 rs1222438352 |
305 | M>V | No |
ClinGen gnomAD |
|
|
rs746817278 CA9736204 |
306 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA408033006 rs1280680187 |
306 | R>S | No |
ClinGen gnomAD |
|
|
CA310897560 rs932477514 |
308 | L>M | No |
ClinGen TOPMed |
|
|
CA408032804 rs1373577759 |
309 | M>I | No |
ClinGen gnomAD |
|
|
CA9736185 rs771741874 |
309 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs747926278 CA9736184 |
311 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9736183 rs778460841 |
311 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA9736181 rs766563846 |
312 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9736182 rs754594614 |
312 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1264428859 CA408032727 |
313 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1264428859 CA408032730 |
313 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs779698196 CA9736180 |
313 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568601541 CA408032708 |
314 | E>K | No |
ClinGen Ensembl |
|
|
rs750933007 CA9736179 |
315 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9736178 rs750933007 |
315 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9736177 rs767978402 |
316 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA9736176 rs762109961 |
317 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1019043669 CA310897514 |
318 | N>K | No |
ClinGen Ensembl |
|
|
CA9736175 rs751915961 |
319 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA9736174 rs764232811 |
320 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs138560626 CA9736170 |
321 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138560626 CA9736172 |
321 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1483515 rs773155636 CA9736169 |
321 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA408032498 rs773155636 |
321 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138560626 CA9736171 |
321 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1466469523 CA408032474 |
323 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA408032452 rs1353454567 |
324 | S>G | No |
ClinGen gnomAD |
|
|
CA9736168 rs772003992 |
325 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423913624 CA408032307 |
331 | G>D | No |
ClinGen gnomAD |
|
|
rs1408662609 CA408032232 |
335 | Y>* | No |
ClinGen TOPMed |
|
|
CA408032237 rs1474446839 |
335 | Y>C | No |
ClinGen gnomAD |
|
|
CA408032181 rs1568601488 |
338 | E>G | No |
ClinGen Ensembl |
|
|
CA408032159 rs1259985508 |
339 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs760853354 CA408032145 |
340 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA310897464 rs760853354 |
340 | S>W | No |
ClinGen gnomAD |
|
|
CA408032070 rs1206736497 |
344 | G>E | No |
ClinGen gnomAD |
|
|
CA9736165 rs768252824 |
345 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 347 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236930799 CA408031904 |
350 | E>K | No |
ClinGen TOPMed |
|
|
rs1377055009 CA408031842 |
352 | E>D | No |
ClinGen gnomAD |
|
|
CA408031848 rs1242164012 |
352 | E>G | No |
ClinGen gnomAD |
|
|
rs61731570 CA9736148 |
353 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201086152 CA9736147 |
354 | R>C | Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1600266563 CA408031807 |
354 | R>L | No |
ClinGen Ensembl |
|
|
CA408031770 rs769533044 |
356 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769533044 CA9736145 |
356 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 357 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408031731 rs1453540234 |
358 | G>D | No |
ClinGen gnomAD |
|
|
CA408031713 rs1343753883 |
359 | M>K | No |
ClinGen gnomAD |
|
|
rs1449963428 CA408031691 |
360 | H>D | No |
ClinGen TOPMed |
|
|
CA408031657 rs1220977311 |
362 | N>H | No |
ClinGen TOPMed |
|
|
CA310897246 rs745378870 |
362 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1025466 CA9736143 rs144712965 |
363 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed |
|
CA9736142 rs377267267 |
367 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1440815722 CA408031596 |
367 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs747515739 CA408031578 |
368 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191812345 CA408031590 |
368 | E>Q | No |
ClinGen gnomAD |
|
|
CA408031557 rs1420981417 |
370 | L>F | No |
ClinGen TOPMed |
|
|
CA408031528 rs1295026285 |
372 | L>P | No |
ClinGen gnomAD |
|
|
CA408031537 rs1485432289 |
372 | L>V | No |
ClinGen gnomAD |
|
|
CA9736139 rs758783601 |
373 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA408031500 rs1354319875 |
374 | M>L | No |
ClinGen gnomAD |
|
|
rs1302517413 CA408031325 |
379 | H>Y | No |
ClinGen gnomAD |
|
|
rs1332282145 CA408031232 |
383 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765448356 CA9736137 |
383 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755133941 CA408031188 |
384 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9736136 rs755133941 |
384 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9736131 rs41310169 |
387 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9736132 rs976579617 |
387 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA408031081 rs1375386201 |
388 | V>G | No |
ClinGen gnomAD |
|
|
rs989421382 CA310897112 |
389 | T>I | No |
ClinGen TOPMed |
|
|
CA9736128 rs137901975 |
390 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408031058 rs1378221364 |
390 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1259476278 CA408031023 |
392 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA310897062 rs370001665 |
393 | S>Y | No |
ClinGen ESP TOPMed |
|
|
rs769586671 CA9736125 |
396 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9736123 rs375789930 |
396 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9736122 rs375789930 |
396 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9736124 rs375789930 |
396 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9736126 rs769586671 |
396 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408030836 rs1157620690 |
400 | L>Q | No |
ClinGen TOPMed |
|
|
CA9736119 rs758834400 |
401 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA408030819 rs1346569329 |
401 | P>T | No |
ClinGen gnomAD |
|
|
rs1447574378 CA408030793 |
402 | S>C | No |
ClinGen TOPMed |
|
|
CA9736118 rs368774043 |
402 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408030785 rs1293920097 |
403 | M>V | No |
ClinGen TOPMed |
|
|
rs1400996996 CA408030735 |
405 | P>L | No |
ClinGen gnomAD |
|
|
rs1279634742 CA408030749 |
405 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755262473 CA9736117 |
407 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs755262473 CA9736116 |
407 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs749215759 CA310896972 |
408 | Y>C | No |
ClinGen Ensembl |
|
|
rs754059891 CA9736115 |
408 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs267605868 CA310896964 |
409 | E>K | No |
ClinGen Ensembl |
|
|
rs756244542 CA9736113 |
411 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408030611 rs1167401838 |
412 | Y>C | No |
ClinGen gnomAD |
|
|
CA408030587 rs1205494896 |
413 | H>R | No |
ClinGen TOPMed |
|
|
rs750433421 CA408030574 |
414 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764133781 CA9736111 |
414 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9736112 COSM1202220 rs750433421 |
414 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs781411537 CA9736093 |
415 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554775602 CA408030418 |
417 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271725926 CA408030400 |
419 | V>M | No |
ClinGen gnomAD |
|
|
CA9736090 rs765214877 |
422 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs769164265 CA9736088 |
423 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408030307 rs1440517943 COSM1533124 |
423 | E>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs766068335 CA9736087 |
423 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs769164265 CA310896695 |
423 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA310896679 rs758414625 |
424 | G>V | No |
ClinGen TOPMed |
|
|
rs760230198 CA9736086 |
425 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs772776734 CA9736085 |
425 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 430 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9736083 rs762358837 |
430 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA310896632 rs889087528 |
432 | D>E | No |
ClinGen TOPMed |
|
|
rs1381693991 CA408030143 |
433 | L>F | No |
ClinGen gnomAD |
|
|
rs769007046 CA9736081 |
434 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs780229430 CA9736080 |
439 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA408030052 rs1223250858 |
440 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA9736077 rs376701569 |
441 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9736075 rs757432903 |
445 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408029995 rs1356453873 |
445 | W>G | No |
ClinGen gnomAD |
|
|
rs751647211 CA9736074 |
446 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1397106378 CA408029969 |
447 | A>T | No |
ClinGen TOPMed |
|
|
CA408029939 rs1428139951 |
449 | D>N | No |
ClinGen TOPMed |
|
|
rs1397321290 CA408029919 |
450 | D>Y | No |
ClinGen TOPMed |
|
|
CA408029888 rs1437424823 |
452 | K>R | No |
ClinGen gnomAD |
|
|
CA408029862 rs1317367788 |
454 | P>L | No |
ClinGen gnomAD |
|
|
rs1329313708 CA408029824 |
457 | V>A | No |
ClinGen TOPMed |
|
|
rs1329313708 CA408029822 |
457 | V>G | No |
ClinGen TOPMed |
|
|
CA9736070 rs371860032 |
457 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408029810 rs1159106450 |
458 | P>L | No |
ClinGen gnomAD |
|
|
rs901920757 CA310896606 |
459 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs745333519 CA9736068 |
460 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767110051 CA9736067 |
461 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1303965034 CA408029760 |
462 | L>P | No |
ClinGen TOPMed |
|
|
CA408029714 COSM1025463 rs1349515294 |
466 | T>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1391085470 CA408029703 |
467 | Y>C | No |
ClinGen Ensembl |
|
|
CA408029692 rs1225741742 |
468 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1048503310 CA310896600 |
469 | T>S | No |
ClinGen gnomAD |
|
|
CA9736066 rs538620902 |
472 | N>D | No |
ClinGen 1000Genomes ExAC |
|
|
rs932340126 CA310896593 |
472 | N>S | No |
ClinGen gnomAD |
|
|
rs373765291 CA310896499 |
477 | P>A | No |
ClinGen ESP TOPMed |
|
|
rs373765291 CA408029522 |
477 | P>T | No |
ClinGen ESP TOPMed |
|
|
COSM3389658 CA408029484 rs1424868870 |
479 | T>M | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs748210749 CA9736038 |
480 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9736037 rs748210749 |
480 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs41309351 CA9736039 |
480 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408029473 rs1417265185 |
481 | A>T | No |
ClinGen TOPMed |
|
|
rs1480378020 CA408029469 |
481 | A>V | No |
ClinGen gnomAD |
|
|
rs755980214 CA9736035 |
486 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9736033 rs780955082 |
488 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9736034 rs559989068 |
488 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1396646852 CA408029366 |
489 | I>T | No |
ClinGen TOPMed |
|
|
rs1319662352 CA408029360 |
490 | P>L | No |
ClinGen gnomAD |
|
|
rs756975018 CA9736032 |
490 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 491 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 493 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408029330 rs1266316207 |
495 | A>S | No |
ClinGen gnomAD |
|
|
CA408029320 CA408029319 rs376564008 |
496 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751145338 CA310896414 |
496 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751145338 CA9736031 |
496 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM443597 rs1016393952 CA310896407 |
497 | L>F | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA408029314 rs1354299493 |
497 | L>R | No |
ClinGen TOPMed |
|
|
CA408029304 rs1400591459 |
499 | G>E | No |
ClinGen gnomAD |
|
|
CA9736028 CA310896403 rs370747954 |
499 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1357907352 CA408029301 |
500 | G>S | No |
ClinGen gnomAD |
|
|
rs1324722987 CA408029285 |
502 | L>F | No |
ClinGen gnomAD |
|
|
rs369924880 CA9736026 |
503 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9736025 rs754320160 |
506 | Y>H | No |
ClinGen ExAC |
|
|
CA408029246 rs1166163460 |
508 | F>C | No |
ClinGen gnomAD |
|
|
CA9736023 rs376401302 |
509 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408029231 rs1568600896 |
510 | M>I | No |
ClinGen Ensembl |
|
|
rs373345558 CA310896366 |
510 | M>V | No |
ClinGen ESP gnomAD |
|
|
CA9736022 rs577150634 |
512 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565163190 CA9736021 |
512 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9736019 rs774433970 |
513 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1600265690 CA408029217 |
513 | T>P | No |
ClinGen Ensembl |
|
|
rs769783313 CA9736018 |
514 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769783313 CA310896331 |
514 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9736016 rs781010186 |
515 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA9736015 rs543432133 |
518 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9736014 rs746775795 COSM1202219 |
518 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs758008735 CA9736012 |
519 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202103486 CA9736009 |
521 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9736010 rs778560289 |
521 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA408029151 rs1160936401 |
524 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408029153 rs1160936401 |
524 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9736007 rs766944887 |
526 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9736004 rs147693328 |
530 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372249479 CA9736002 |
530 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372249479 CA9736003 |
530 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs147693328 CA9736005 |
530 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768695193 CA9736000 |
531 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776576915 CA9735998 |
533 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9735996 rs746791045 |
535 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9735994 rs777608220 |
537 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771686733 CA9735993 |
539 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1568600809 CA408029040 |
542 | A>S | No |
ClinGen Ensembl |
|
|
rs753359247 CA9735989 |
543 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753359247 CA9735990 COSM1025462 |
543 | M>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9735991 rs778615093 |
543 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310896097 rs1053862808 |
544 | Q>K | No |
ClinGen TOPMed |
|
|
rs201409887 CA9735988 |
544 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141526809 CA9735984 |
548 | R>C | No |
ClinGen ESP ExAC TOPMed |
|
|
CA408029000 COSM2887968 rs1378424023 |
548 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs141526809 CA9735982 |
548 | R>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA9735981 rs751762428 |
549 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408028996 rs764257542 |
549 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs764257542 CA9735980 |
549 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408028992 rs1236791871 |
550 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1195844075 CA408028994 |
550 | P>T | No |
ClinGen gnomAD |
|
|
CA408028971 rs1272514532 |
553 | S>N | No |
ClinGen TOPMed |
|
|
rs775487980 CA9735978 |
553 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA408028953 rs1307028500 |
555 | D>V | No |
ClinGen TOPMed |
|
|
CA408028946 rs1198238076 |
556 | F>Y | No |
ClinGen gnomAD |
|
|
CA408028935 rs538584869 |
558 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs538584869 CA9735976 |
558 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs147866857 CA9735975 |
559 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9735973 rs149777086 |
560 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191513308 CA408028913 |
561 | N>K | No |
ClinGen TOPMed |
|
|
rs1252160997 CA408028909 |
562 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA408028896 rs1340408513 |
564 | N>D | No |
ClinGen gnomAD |
|
|
rs748821645 CA9735970 |
564 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9735968 rs191472527 |
565 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1416998812 CA408028865 |
568 | W>* | No |
ClinGen TOPMed |
|
|
CA9735966 rs781462252 |
570 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs145736623 CA9735963 |
573 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9735939 rs755116809 |
575 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1285853797 CA408028800 |
576 | N>S | No |
ClinGen gnomAD |
|
|
CA9735938 rs753793658 |
579 | S>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1355933263 CA408028768 |
580 | Y>C | No |
ClinGen TOPMed |
|
|
CA408028754 rs1246916502 |
582 | H>Q | No |
ClinGen TOPMed |
|
|
CA408028744 rs1600265241 |
584 | N>D | No |
ClinGen Ensembl |
|
|
rs767505445 CA9735937 |
584 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1349730975 CA408028716 |
587 | E>D | No |
ClinGen TOPMed |
|
|
rs761830537 CA408028689 |
592 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408028649 rs1209526620 |
597 | F>C | No |
ClinGen TOPMed |
|
|
CA408028648 rs150695261 |
597 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762747534 CA408028640 |
599 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408028638 rs1568600606 |
599 | H>P | No |
ClinGen Ensembl |
|
|
rs762747534 CA9735933 |
599 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9735930 rs769295245 |
603 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA310895671 rs963797346 |
605 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9735929 rs759094843 |
605 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1277556711 CA408028565 |
609 | N>H | No |
ClinGen Ensembl |
|
|
CA408028554 rs1434343273 |
610 | N>S | No |
ClinGen TOPMed |
|
|
rs1434343273 CA408028555 |
610 | N>T | No |
ClinGen TOPMed |
|
|
rs186626222 CA9735926 |
612 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 612 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772447877 CA9735924 COSM1632222 |
613 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs748471153 CA9735923 |
613 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 615 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1025459 rs760210168 CA9735892 |
622 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9735891 rs772660245 |
622 | R>H | Variant assessed as Somatic; 5.222e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772660245 CA408027311 |
622 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772660245 CA408027312 |
622 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408027302 rs1268444722 |
623 | M>K | No |
ClinGen TOPMed |
|
|
COSM3785365 CA408027301 rs1268444722 |
623 | M>T | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1319676951 CA408027306 |
623 | M>V | No |
ClinGen gnomAD |
|
|
rs139729690 CA310892324 |
625 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 626 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408027253 rs1299689656 |
627 | G>R | No |
ClinGen Ensembl |
|
|
CA408027248 rs1219372969 |
627 | G>V | No |
ClinGen TOPMed |
|
|
CA9735888 rs774844112 |
630 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749606246 CA9735886 |
631 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA408027149 rs1375704500 |
634 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1166627865 CA408027144 |
635 | E>Q | No |
ClinGen Ensembl |
|
|
rs142423261 CA9735884 |
636 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 636 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142423261 CA9735883 |
636 | L>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs148259975 CA310892284 COSM110617 |
637 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA9735882 rs781393311 |
639 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1272327655 CA408027072 |
640 | D>A | No |
ClinGen TOPMed |
|
|
rs748025686 CA9735880 |
641 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA408027065 rs748025686 |
641 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs778854153 CA9735879 |
643 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 644 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408027021 rs1184303243 |
644 | A>V | No |
ClinGen gnomAD |
|
|
CA9735878 rs369610590 |
645 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA310892255 rs1053274396 |
646 | D>Y | No |
ClinGen TOPMed |
|
|
rs267605867 CA310892254 |
647 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA310892251 rs375368164 |
648 | I>T | No |
ClinGen ESP |
|
|
rs1444541355 CA408026983 |
648 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1051222640 CA310892247 |
649 | N>S | No |
ClinGen Ensembl |
|
|
CA408026925 rs372906016 |
652 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372906016 CA9735875 |
652 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200899434 CA310892232 |
653 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200899434 CA9735874 |
653 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9735873 rs144417990 |
654 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs770444464 | 655 | A>= | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400681943 CA408026912 |
655 | A>T | No |
ClinGen TOPMed |
|
|
rs749218091 CA9735842 |
655 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs769587683 CA9735840 |
656 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1345082499 CA408026875 |
657 | G>R | No |
ClinGen TOPMed |
|
|
rs1255102168 CA408026867 |
657 | G>V | No |
ClinGen gnomAD |
|
|
CA9735838 rs780735684 |
658 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA310892033 rs267605866 |
659 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 660 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 661 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756881556 COSM443596 CA9735837 |
662 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs372944936 CA9735836 |
662 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408026776 rs1298325664 |
664 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 664 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9735834 rs759036237 |
665 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408026766 rs759036237 |
665 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754293138 CA408026772 |
665 | T>P | No |
ClinGen Ensembl |
|
|
CA310892009 rs754293138 |
665 | T>S | No |
ClinGen Ensembl |
|
|
rs753273700 CA9735833 |
666 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9735830 rs61729232 |
668 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9735831 rs538121871 |
668 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408026721 rs1176901648 |
669 | Y>C | No |
ClinGen gnomAD |
|
|
CA9735828 rs138640958 |
670 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766560640 CA9735829 COSM1284288 |
670 | M>K | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs766560640 CA408026705 |
670 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA408026710 rs1434167372 |
670 | M>V | No |
ClinGen TOPMed |
|
|
CA9735827 rs773232286 |
671 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1600264235 CA408026682 |
672 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 675 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1031862598 CA310891923 |
675 | A>V | No |
ClinGen TOPMed |
|
|
COSM109554 rs143135336 CA9735825 |
676 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs775408477 CA9735824 |
678 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs770560435 COSM3423562 CA9735820 |
683 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs200652644 CA9735821 |
683 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746665380 CA9735819 |
684 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9735817 rs138143188 |
686 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142149554 CA9735818 |
686 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9735816 rs747623544 |
687 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 691 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9735815 rs779587319 |
691 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA310891848 rs935723969 |
692 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 693 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9735814 rs755520149 |
694 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1394029298 CA408026421 |
696 | C>Y | No |
ClinGen gnomAD |
|
|
rs560382916 CA9735811 |
699 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA408026393 rs1445882076 |
700 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 700 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9735809 rs149794908 |
701 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1251368419 CA408026386 |
701 | T>I | No |
ClinGen TOPMed |
|
|
rs149794908 CA9735810 |
701 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs908613515 CA310891729 |
702 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9735808 rs761910515 |
702 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600264111 CA408026379 |
703 | T>P | No |
ClinGen Ensembl |
|
|
CA310891711 rs949720041 |
704 | P>S | No |
ClinGen Ensembl |
|
|
rs200296165 CA310891709 |
705 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200296165 CA9735806 |
705 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759435263 CA9735805 |
706 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399524279 CA408026345 |
708 | L>P | No |
ClinGen TOPMed |
|
|
CA9735804 rs776351140 |
709 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9735803 COSM1237741 rs544438419 |
709 | R>H | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 710 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369511170 CA9735800 |
710 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1202223 rs772952723 CA9735801 |
710 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1391694214 CA408026330 |
711 | L>P | No |
ClinGen gnomAD |
|
|
CA310891664 rs113268916 |
714 | A>T | No |
ClinGen Ensembl |
|
|
CA310891655 rs920393392 |
714 | A>V | No |
ClinGen Ensembl |
|
|
rs778535568 CA9735798 |
716 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161549053 CA408026299 |
717 | K>T | No |
ClinGen gnomAD |
|
|
rs1435084556 CA408026294 |
718 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs749787483 CA310891613 |
719 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749787483 CA9735796 |
719 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755610526 CA9735797 |
719 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408026280 rs1234195633 |
720 | P>L | No |
ClinGen gnomAD |
|
|
rs1437416919 CA408026283 |
720 | P>S | No |
ClinGen gnomAD |
|
|
CA408026265 rs1265907546 |
723 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA408026263 rs1265907546 |
723 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9735794 rs375270618 |
723 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408026247 rs1490553304 |
724 | R>S | No |
ClinGen gnomAD |
|
|
rs572438380 CA9735793 |
725 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM336649 CA9735792 rs767745837 |
725 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs572438380 CA408026245 |
725 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9735790 rs141617103 |
728 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9735791 rs367832059 |
728 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9735789 rs764149429 |
729 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs201230706 CA9735787 |
731 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1365725943 CA408026176 |
732 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 734 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200588273 CA9735785 |
735 | D>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with Q96SM3
5 regional properties for Q96SM3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Adenylyl cyclase class-3/4/guanylyl cyclase | 270 - 472 | IPR001054-1 |
| domain | Adenylyl cyclase class-3/4/guanylyl cyclase | 884 - 1122 | IPR001054-2 |
| conserved_site | Adenylyl cyclase class-4/guanylyl cyclase, conserved site | 423 - 446 | IPR018297-1 |
| conserved_site | Adenylyl cyclase class-4/guanylyl cyclase, conserved site | 1053 - 1076 | IPR018297-2 |
| domain | Adenylate cyclase, N-terminal | 42 - 297 | IPR032628 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| metallocarboxypeptidase activity | Catalysis of the hydrolysis of a single C-terminal amino acid residue from 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. |
| zinc ion binding | Binding to a zinc ion (Zn). |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| peptide metabolic process | The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. |
| protein processing | Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P04836 | CPE | Carboxypeptidase E | Bos taurus (Bovine) | PR |
| Q2KJ83 | CPN1 | Carboxypeptidase N catalytic chain | Bos taurus (Bovine) | PR |
| Q8QGP3 | CPZ | Carboxypeptidase Z | Gallus gallus (Chicken) | PR |
| P14384 | CPM | Carboxypeptidase M | Homo sapiens (Human) | PR |
| Q8N436 | CPXM2 | Inactive carboxypeptidase-like protein X2 | Homo sapiens (Human) | PR |
| Q66K79 | CPZ | Carboxypeptidase Z | Homo sapiens (Human) | PR |
| Q8IUX7 | AEBP1 | Adipocyte enhancer-binding protein 1 | Homo sapiens (Human) | PR |
| O75976 | CPD | Carboxypeptidase D | Homo sapiens (Human) | PR |
| Q80V42 | Cpm | Carboxypeptidase M | Mus musculus (Mouse) | PR |
| O89001 | Cpd | Carboxypeptidase D | Mus musculus (Mouse) | PR |
| Q9JJN5 | Cpn1 | Carboxypeptidase N catalytic chain | Mus musculus (Mouse) | PR |
| Q9D2L5 | Cpxm2 | Inactive carboxypeptidase-like protein X2 | Mus musculus (Mouse) | PR |
| Q640N1 | Aebp1 | Adipocyte enhancer-binding protein 1 | Mus musculus (Mouse) | PR |
| Q9Z100 | Cpxm1 | Probable carboxypeptidase X1 | Mus musculus (Mouse) | PR |
| Q9EQV8 | Cpn1 | Carboxypeptidase N catalytic chain | Rattus norvegicus (Rat) | PR |
| A2RUV9 | Aebp1 | Adipocyte enhancer-binding protein 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWGLLLALAA | FAPAVGPALG | APRNSVLGLA | QPGTTKVPGS | TPALHSSPAQ | PPAETANGTS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EQHVRIRVIK | KKKVIMKKRK | KLTLTRPTPL | VTAGPLVTPT | PAGTLDPAEK | QETGCPPLGL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ESLRVSDSRL | EASSSQSFGL | GPHRGRLNIQ | SGLEDGDLYD | GAWCAEEQDA | DPWFQVDAGH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PTRFSGVITQ | GRNSVWRYDW | VTSYKVQFSN | DSRTWWGSRN | HSSGMDAVFP | ANSDPETPVL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NLLPEPQVAR | FIRLLPQTWL | QGGAPCLRAE | ILACPVSDPN | DLFLEAPASG | SSDPLDFQHH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NYKAMRKLMK | QVQEQCPNIT | RIYSIGKSYQ | GLKLYVMEMS | DKPGEHELGE | PEVRYVAGMH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GNEALGRELL | LLLMQFLCHE | FLRGNPRVTR | LLSEMRIHLL | PSMNPDGYEI | AYHRGSELVG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| WAEGRWNNQS | IDLNHNFADL | NTPLWEAQDD | GKVPHIVPNH | HLPLPTYYTL | PNATVAPETR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AVIKWMKRIP | FVLSANLHGG | ELVVSYPFDM | TRTPWAAREL | TPTPDDAVFR | WLSTVYAGSN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LAMQDTSRRP | CHSQDFSVHG | NIINGADWHT | VPGSMNDFSY | LHTNCFEVTV | ELSCDKFPHE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NELPQEWENN | KDALLTYLEQ | VRMGIAGVVR | DKDTELGIAD | AVIAVDGINH | DVTTAWGGDY |
| 670 | 680 | 690 | 700 | 710 | 720 |
| WRLLTPGDYM | VTASAEGYHS | VTRNCRVTFE | EGPFPCNFVL | TKTPKQRLRE | LLAAGAKVPP |
| 730 | |||||
| DLRRRLERLR | GQKD |