Q504Q3
PR
Gene name |
PAN2 |
Protein name |
PAN2-PAN3 deadenylation complex catalytic subunit PAN2 |
Names |
C-type lectin-like molecule 1, CLL-1, Myeloid inhibitory C-type lectin-like receptor, MICL, Inactive ubiquitin carboxyl-terminal hydrolase 52, PAB1P-dependent poly(A)-specific ribonuclease, Poly(A)-nuclease deadenylation complex subunit 2, PAN deadenylation complex subunit 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9924 |
EC number |
3.1.13.4: Exoribonucleases producing 5'-phosphomonoesters |
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 Q504Q3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q504Q3-F1 | Predicted | AlphaFoldDB |
737 variants for Q504Q3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 3 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289062439 CA385257060 |
3 | F>L | No |
ClinGen gnomAD |
|
|
CA385257042 rs1384139648 |
5 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 5 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6630045 rs773268328 |
8 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs770791043 CA6630043 |
9 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772189173 CA6630044 |
9 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1178497925 CA385257008 |
11 | A>G | No |
ClinGen gnomAD |
|
|
CA385257011 rs1403872784 |
11 | A>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6630042 rs779071647 |
12 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6630041 rs755181383 |
13 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630040 rs374109535 |
16 | A>V | No |
ClinGen ESP ExAC |
|
|
rs1413373088 CA385256970 |
17 | M>I | No |
ClinGen TOPMed |
|
|
CA6630038 rs756637304 |
17 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385256965 rs1182498745 |
18 | H>Y | No |
ClinGen gnomAD |
|
|
rs751022009 CA6630037 |
19 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6630036 rs763671246 |
20 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA237637052 rs1014809988 |
23 | P>A | No |
ClinGen TOPMed |
|
|
rs1004251013 CA237637049 |
23 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 24 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1301102551 CA385256902 |
28 | H>P | No |
ClinGen TOPMed |
|
|
CA6630034 rs752286546 |
29 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA385256879 rs764893192 |
32 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA237637029 rs11558139 VAR_031162 |
32 | S>N | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs764893192 CA6630033 |
32 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1314597057 CA385256871 |
33 | L>Q | No |
ClinGen gnomAD |
|
|
rs759123582 CA6630032 |
33 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs766147397 CA6630030 |
36 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592452758 CA385256826 |
40 | D>A | No |
ClinGen Ensembl |
|
|
CA6630028 rs760584414 |
40 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385256823 rs1165958234 |
41 | P>T | No |
ClinGen gnomAD |
|
|
CA385256813 rs1463311011 |
42 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA385256802 rs376838096 CA237636998 |
44 | V>L | No |
ClinGen ESP TOPMed |
|
|
rs1442300914 CA385256792 |
46 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA385256788 rs1565639364 |
46 | L>W | No |
ClinGen Ensembl |
|
|
rs1430820868 CA385256778 |
47 | E>D | No |
ClinGen gnomAD |
|
|
rs1199083282 CA385256767 |
49 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs201789768 CA6630025 |
50 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774312153 CA6630024 |
51 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA385256753 rs1197972839 |
52 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA385256751 rs1483585818 |
52 | Q>R | No |
ClinGen gnomAD |
|
|
CA385256747 rs768859348 |
53 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs768859348 CA6630023 |
53 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6630022 rs749541680 |
55 | V>L | No |
ClinGen ExAC |
|
|
rs144463048 CA6630021 |
60 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385256694 rs1217674018 |
60 | G>D | No |
ClinGen Ensembl |
|
|
rs1188119762 CA385256685 |
62 | Y>H | No |
ClinGen gnomAD |
|
|
rs1238353027 CA385256672 |
64 | E>K | No |
ClinGen gnomAD |
|
|
rs1436587633 CA385256661 |
65 | L>S | No |
ClinGen TOPMed |
|
|
rs1326734091 CA385256641 |
68 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 71 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1592452628 CA385256610 |
72 | V>G | No |
ClinGen Ensembl |
|
|
rs757860674 CA6630017 |
73 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1422399042 CA385256583 |
77 | S>C | No |
ClinGen gnomAD |
|
|
CA6630016 rs752194855 |
77 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202171087 CA6630014 |
78 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1184588435 CA385256574 |
79 | S>F | No |
ClinGen gnomAD |
|
|
rs148563949 CA6630013 |
79 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766167780 CA6630012 |
88 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450085853 CA385256479 |
92 | S>N | No |
ClinGen TOPMed |
|
|
rs1490907148 CA385256470 |
93 | H>R | No |
ClinGen gnomAD |
|
|
CA6630011 rs760422784 |
94 | G>R | No |
ClinGen ExAC gnomAD |
|
| rs1333307647 | 95 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751498906 CA6629989 |
95 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764199656 CA6629988 |
95 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs112493243 CA237632178 |
96 | H>R | No |
ClinGen Ensembl |
|
|
rs775660438 CA6629986 |
97 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6629987 rs762898818 |
97 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA385256420 rs1390314286 |
100 | F>I | No |
ClinGen TOPMed |
|
|
CA385256398 rs1304312959 |
103 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 104 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6629983 rs777128537 |
107 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA385256365 rs1355646715 |
108 | Y>D | No |
ClinGen Ensembl |
|
|
CA6629982 rs771473187 |
112 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6629980 CA6629981 rs773552099 |
112 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs941257229 CA237632156 |
112 | Q>R | No |
ClinGen TOPMed |
|
|
rs1189341640 CA385256335 |
113 | V>I | No |
ClinGen gnomAD |
|
|
rs772655729 CA385256328 |
114 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1201705884 CA385256325 |
114 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs368010013 CA6629978 |
114 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772655729 CA6629979 |
114 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6629977 rs779547920 |
116 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1279101530 CA385256313 |
116 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 116 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745581134 CA385256291 |
119 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs745581134 CA6629975 |
119 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6629973 rs757039741 |
120 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780940788 CA6629974 |
120 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6629971 rs763884746 |
121 | Q>L | No |
ClinGen ExAC |
|
|
rs1194573341 CA385256273 |
122 | I>N | No |
ClinGen TOPMed |
|
|
CA385256266 rs1407626668 |
123 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs771927523 CA237632104 |
123 | Q>L | No |
ClinGen TOPMed |
|
|
CA385256254 rs1415891291 |
125 | L>Q | No |
ClinGen TOPMed |
|
|
rs1172463631 CA385256244 |
126 | E>D | No |
ClinGen TOPMed |
|
|
CA385256250 rs1474110577 |
126 | E>Q | No |
ClinGen TOPMed |
|
|
rs752652772 CA6629969 |
128 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1450820948 CA385256221 |
130 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1450820948 CA385256222 |
130 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6629968 rs759817193 |
131 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs536734076 CA237632090 |
133 | T>A | No |
ClinGen 1000Genomes |
|
|
rs762946032 CA385256201 |
133 | T>I | No |
ClinGen gnomAD |
|
|
rs762946032 CA237632086 |
133 | T>N | No |
ClinGen gnomAD |
|
|
CA385256174 rs1392331561 |
137 | L>F | No |
ClinGen gnomAD |
|
|
rs1296357175 CA385256168 |
138 | K>Q | No |
ClinGen TOPMed |
|
|
CA237632074 rs909228671 |
140 | M>L | No |
ClinGen TOPMed |
|
|
rs1414817785 CA385256146 |
141 | A>T | No |
ClinGen TOPMed |
|
|
CA6629965 rs766739939 |
141 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6629963 rs773640168 |
142 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6629964 rs773640168 |
142 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183637507 CA385256128 |
144 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6629962 rs772397332 |
150 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1296816870 CA385256088 |
150 | Y>N | No |
ClinGen TOPMed |
|
|
CA6629961 rs748760622 |
151 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs750752729 CA6629945 |
155 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 156 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490098716 CA385256021 |
158 | M>V | No |
ClinGen gnomAD |
|
|
CA6629942 rs774876254 |
159 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139759050 CA6629938 |
168 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746743064 CA6629937 |
169 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA385255941 rs1343911468 |
170 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs190953745 CA385255936 |
171 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190953745 CA6629935 |
171 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6629933 rs747989437 |
173 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA385255905 rs1201177760 |
176 | N>I | No |
ClinGen gnomAD |
|
|
CA385255893 rs1414030264 |
177 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6629932 rs778946652 |
178 | I>T | No |
ClinGen ExAC gnomAD |
|
|
VAR_031163 CA6629931 rs1918496 |
179 | I>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA385255886 rs1918496 |
179 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753904178 CA6629930 |
181 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1192583518 CA385255866 |
182 | D>N | No |
ClinGen gnomAD |
|
|
CA6629929 rs768399929 |
184 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1492955 rs143838622 CA6629928 |
185 | T>I | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA385255841 rs143838622 |
185 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA237631957 rs971655243 |
186 | V>I | No |
ClinGen Ensembl |
|
|
rs749491677 CA237631953 |
187 | Q>* | No |
ClinGen Ensembl |
|
|
rs1032688180 CA237631949 |
188 | E>K | No |
ClinGen TOPMed |
|
|
CA385255816 rs1206232762 |
189 | T>I | No |
ClinGen gnomAD |
|
|
rs750709165 CA6629927 |
190 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1023050541 CA237631938 |
191 | K>R | No |
ClinGen Ensembl |
|
|
CA385255778 rs1234360551 |
193 | A>S | No |
ClinGen gnomAD |
|
|
rs1335455999 CA385255770 |
194 | V>A | No |
ClinGen gnomAD |
|
|
rs756261124 CA6629906 |
195 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs139831098 CA6629905 |
196 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385255751 rs1393715376 |
197 | P>L | No |
ClinGen gnomAD |
|
|
rs757479409 CA6629903 |
199 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6629902 rs751851977 |
204 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 206 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM125107 rs764508953 CA6629901 |
207 | R>C | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1470884904 CA385255687 |
207 | R>H | No |
ClinGen TOPMed |
|
|
CA6629900 rs147436117 |
208 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA237631798 rs937336835 |
209 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs531841066 CA6629899 |
210 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1166314874 CA385255653 |
212 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA385255603 rs1250107493 |
218 | V>F | No |
ClinGen gnomAD |
|
|
CA385255593 rs1192836768 |
219 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 220 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483534933 CA385255584 |
221 | R>K | No |
ClinGen gnomAD |
|
|
CA385255580 rs1291280567 |
221 | R>S | No |
ClinGen gnomAD |
|
|
CA385255573 rs1358542019 |
222 | D>E | No |
ClinGen gnomAD |
|
|
rs749946003 CA6629874 |
222 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6629873 rs767198362 |
224 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372506474 CA6629872 |
224 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA385255551 rs1194777120 |
226 | F>C | No |
ClinGen TOPMed |
|
|
CA237631577 rs1045861032 |
226 | F>L | No |
ClinGen Ensembl |
|
|
CA385255549 rs1244154837 |
227 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs950189900 CA237631571 |
228 | V>A | No |
ClinGen TOPMed |
|
|
rs1349752183 CA385255541 |
228 | V>L | No |
ClinGen gnomAD |
|
|
rs774190366 CA6629871 |
230 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs763873916 CA6629870 |
231 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753468064 CA6629869 |
234 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775159385 CA6629868 |
236 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385255459 rs1238992496 |
240 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs950171698 CA237631534 |
244 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs950171698 CA385255428 |
244 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6629865 rs534840794 CA385255430 |
244 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs771048260 CA6629864 |
247 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs771048260 CA385255409 |
247 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs571908113 CA6629862 |
249 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1197036719 CA385255392 |
250 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 252 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268181821 CA385255380 |
252 | C>Y | No |
ClinGen gnomAD |
|
|
rs199645348 CA6629860 |
254 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6629858 rs755497442 |
255 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA385255363 rs1592442449 |
255 | S>P | No |
ClinGen Ensembl |
|
|
CA6629856 rs756790140 |
256 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592442434 CA385255359 |
256 | S>R | No |
ClinGen Ensembl |
|
|
CA6629855 rs756790140 |
256 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6629854 rs751139956 |
257 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA237631479 rs765974777 |
257 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6629853 rs763777586 |
258 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs930926233 CA237631473 |
260 | G>V | No |
ClinGen Ensembl |
|
|
CA237631469 rs985728697 |
264 | D>N | No |
ClinGen TOPMed |
|
|
CA6629849 rs759493723 |
265 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA385255306 rs759493723 |
265 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA385255304 rs1458171397 |
265 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs776589009 CA6629848 |
267 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6629847 rs561402020 |
268 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA237631456 rs961780232 |
268 | K>R | No |
ClinGen Ensembl |
|
|
rs1252865764 CA385255281 |
269 | V>L | No |
ClinGen TOPMed |
|
|
rs773284717 CA6629845 |
274 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs200696005 CA6629846 |
274 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385255240 rs1192612630 |
275 | M>V | No |
ClinGen gnomAD |
|
|
rs911615018 CA237631455 |
276 | R>H | No |
ClinGen gnomAD |
|
|
rs1249915890 CA385255184 |
283 | V>A | No |
ClinGen gnomAD |
|
|
rs1391216725 CA385255188 |
283 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs148254247 CA385255182 |
284 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1465261429 CA385255178 |
284 | H>R | No |
ClinGen gnomAD |
|
|
CA6629844 rs148254247 |
284 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385255161 rs1217245278 |
287 | P>S | No |
ClinGen gnomAD |
|
|
rs779317080 CA6629841 |
288 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 289 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6629839 rs766993142 |
291 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA385255133 rs1468575196 |
291 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs560099081 CA6629838 |
294 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777490095 CA385255083 |
299 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6629835 rs777490095 |
299 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6629834 rs758053491 |
299 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA6629833 rs61761601 |
303 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61761601 CA237631277 |
303 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754672268 CA385254972 |
313 | E>D | No |
ClinGen ExAC |
|
| TCGA novel | 316 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237630913 rs868057728 |
318 | A>T | No |
ClinGen Ensembl |
|
|
CA385254922 rs1413057413 |
319 | N>H | No |
ClinGen gnomAD |
|
|
CA6629812 rs766222399 |
319 | N>K | No |
ClinGen ExAC |
|
|
rs753626038 CA385254917 |
319 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6629813 rs753626038 |
319 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA385254878 rs1257999319 |
322 | D>G | No |
ClinGen gnomAD |
|
|
CA385254885 rs1473696844 COSM1747152 |
322 | D>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA385254867 rs1289882376 |
323 | I>V | No |
ClinGen TOPMed |
|
|
rs144023820 CA6629811 |
326 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1565635992 CA385254788 |
328 | P>L | No |
ClinGen Ensembl |
|
|
CA385254774 rs1565635985 |
329 | V>A | No |
ClinGen Ensembl |
|
|
rs1371841640 CA385254759 |
330 | G>V | No |
ClinGen TOPMed |
|
|
rs1033481815 CA237630904 |
332 | L>P | No |
ClinGen TOPMed |
|
|
CA385254720 rs1320578927 |
334 | M>R | No |
ClinGen gnomAD |
|
|
rs1319023787 CA385254698 |
335 | T>I | No |
ClinGen TOPMed |
|
|
rs761754410 CA6629808 |
336 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA6629809 rs767524151 |
336 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA237630898 rs977995107 |
336 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385254683 rs1464240278 |
337 | D>N | No |
ClinGen TOPMed |
|
|
rs1288171621 CA385254661 |
338 | V>A | No |
ClinGen gnomAD |
|
|
CA6629806 rs764151204 |
345 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs369072199 CA6629805 |
347 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 348 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190200511 CA385254525 |
349 | D>N | No |
ClinGen TOPMed |
|
|
CA385254506 rs1457540175 |
350 | S>C | No |
ClinGen gnomAD |
|
|
rs770328435 CA6629803 |
352 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA6629802 rs746344278 |
353 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs776962066 CA6629801 |
354 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592441387 CA385254438 |
357 | W>* | No |
ClinGen Ensembl |
|
|
rs771490974 CA6629800 |
361 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158202726 CA385254389 |
361 | P>S | No |
ClinGen gnomAD |
|
|
CA385254366 rs778553353 |
363 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA385254365 rs778553353 |
363 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6629798 rs778553353 |
363 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs894576498 CA385254352 |
364 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA237630833 rs894576498 |
364 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1592441345 CA385254324 |
366 | N>T | No |
ClinGen Ensembl |
|
|
CA6629795 rs779795592 |
367 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA6629796 rs748991970 |
367 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs746110559 CA6629794 |
368 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1289298884 CA385254274 |
370 | R>C | No |
ClinGen gnomAD |
|
|
CA385254276 rs1289298884 |
370 | R>G | No |
ClinGen gnomAD |
|
|
rs11558142 CA6629793 |
370 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs11558142 CA385254268 |
370 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767303960 CA6629792 |
377 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs145299255 CA6629790 |
379 | L>H | No |
ClinGen ESP ExAC TOPMed |
|
|
CA6629788 COSM3812581 rs763243307 |
380 | V>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA385254126 rs1592441300 |
381 | D>A | No |
ClinGen Ensembl |
|
|
CA385254137 rs1159830852 |
381 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6629786 rs765585586 |
383 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA385254091 rs777067447 |
384 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6629784 rs777067447 |
384 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs759929111 CA6629785 |
384 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385254060 rs1565635800 |
387 | D>G | No |
ClinGen Ensembl |
|
|
CA385254067 COSM1299671 rs1428716168 |
387 | D>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6629783 rs771275737 |
391 | D>E | No |
ClinGen ExAC |
|
|
rs1479155374 CA385253982 |
393 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 400 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6629778 rs140239422 |
400 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385253872 rs1468906566 |
402 | L>F | No |
ClinGen TOPMed |
|
|
rs890117624 CA237630651 |
403 | T>S | No |
ClinGen TOPMed |
|
|
CA6629775 rs138510771 |
404 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6629774 rs368645188 |
406 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6629773 rs368645188 |
406 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385253810 rs1364566433 |
408 | L>F | No |
ClinGen gnomAD |
|
|
CA6629771 rs758511085 |
409 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA385253798 rs1432837821 |
409 | S>Y | No |
ClinGen gnomAD |
|
|
COSM251068 CA385253781 rs201579222 |
410 | D>E | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs765497511 CA6629769 |
410 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765497511 CA6629770 |
410 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237630591 rs145905832 |
412 | P>S | No |
ClinGen ESP |
|
|
CA385253731 rs1465353627 |
414 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA385253725 rs1357125109 |
414 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766816717 CA237630569 |
418 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766816717 CA6629766 |
418 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385253661 rs1389041533 |
420 | P>A | No |
ClinGen gnomAD |
|
|
CA6629752 COSM1286955 rs758421372 |
422 | R>Q | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs752756754 CA6629751 |
424 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs140591449 CA6629747 |
426 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA237630354 rs199635319 |
427 | D>E | No |
ClinGen 1000Genomes |
|
|
rs1592440702 CA385253520 |
428 | A>E | No |
ClinGen Ensembl |
|
|
rs1028812161 CA237630353 |
428 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs373301380 COSM1639180 CA6629746 |
432 | R>C | stomach [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs549491065 CA6629745 |
432 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527776401 CA6629744 |
433 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1396601761 CA385253001 |
434 | M>R | No |
ClinGen gnomAD |
|
|
rs1162084673 CA385252997 |
435 | K>E | No |
ClinGen gnomAD |
|
|
rs1388438565 CA385252959 |
440 | I>F | No |
ClinGen TOPMed |
|
|
CA237630342 rs866417046 |
443 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1472460169 CA385252925 |
445 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6629741 rs762379119 |
447 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1184615217 CA385252913 |
447 | R>H | No |
ClinGen gnomAD |
|
|
rs774964186 CA6629740 |
448 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA385252905 rs1266783302 |
449 | R>G | No |
ClinGen gnomAD |
|
|
CA6629739 rs764772494 |
449 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 449 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6629737 rs370516391 |
451 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs940286730 CA237630300 |
451 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs201494448 CA6629736 |
452 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201494448 CA6629735 |
452 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435774713 CA385252888 |
452 | N>Y | No |
ClinGen TOPMed |
|
|
rs773144304 CA6629734 |
453 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1426055718 CA385252878 CA385252879 |
453 | Q>H | No |
ClinGen gnomAD |
|
|
rs1416376314 CA385252882 |
453 | Q>R | No |
ClinGen gnomAD |
|
|
CA237629719 rs1019688555 |
454 | I>K | No |
ClinGen TOPMed |
|
|
CA385252857 rs1320734360 |
455 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA385252859 rs1320734360 |
455 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA237629716 rs986110967 |
458 | L>I | No |
ClinGen Ensembl |
|
|
CA385252796 rs1401651425 |
462 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs773127709 CA6629717 |
463 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385252787 rs772033162 |
463 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA6629716 rs772033162 |
463 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs747987773 CA6629715 |
465 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs774383305 CA6629714 |
468 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774383305 CA385252721 |
468 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206706910 CA385252685 |
470 | Q>R | No |
ClinGen TOPMed |
|
|
CA6629712 rs142398237 |
472 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6629711 rs780068927 |
473 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6629710 rs756350866 |
474 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143826988 CA6629709 |
474 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 474 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385252622 rs1190282892 |
475 | P>L | No |
ClinGen TOPMed |
|
|
rs1264740873 CA385252611 |
476 | V>G | No |
ClinGen TOPMed |
|
|
rs1277568792 CA385252619 |
476 | V>I | No |
ClinGen gnomAD |
|
|
rs983554110 CA237629679 COSM1677088 |
478 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6629707 rs149179511 |
478 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764602094 CA6629705 |
480 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385252539 rs1350564997 |
483 | H>Y | No |
ClinGen TOPMed |
|
|
rs1359843242 CA385252487 |
486 | M>I | No |
ClinGen gnomAD |
|
|
CA6629703 rs376925389 |
486 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 489 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM941640 CA6629701 rs371602522 |
492 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs185741202 CA6629699 |
492 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs185741202 CA6629700 |
492 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6629680 rs767214794 |
494 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA385252328 rs1472781197 |
495 | T>A | No |
ClinGen TOPMed |
|
|
rs1171163225 CA385252322 |
495 | T>S | No |
ClinGen gnomAD |
|
|
CA6629679 rs761628116 |
505 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA237629431 rs113409636 |
507 | D>G | No |
ClinGen Ensembl |
|
|
rs1244884981 CA385252125 |
510 | H>P | No |
ClinGen gnomAD |
|
| TCGA novel | 511 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6629677 rs145416458 |
515 | L>F | No |
ClinGen ESP ExAC |
|
|
rs368875395 CA6629675 |
521 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1168201335 CA385252017 |
522 | H>Y | No |
ClinGen TOPMed |
|
|
rs769742340 CA6629674 |
524 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385251963 rs1416365335 |
526 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1288346281 CA385251886 |
531 | M>V | No |
ClinGen gnomAD |
|
|
CA237629051 rs763676391 |
534 | V>G | No |
ClinGen Ensembl |
|
|
CA385251759 rs1362057111 |
536 | Y>H | No |
ClinGen TOPMed |
|
|
rs1024198483 CA385251734 |
537 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs759537895 CA237629022 CA6629653 |
539 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6629652 rs776681052 |
540 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385251689 rs1372715591 |
541 | V>A | No |
ClinGen gnomAD |
|
|
CA385251697 rs1432192855 |
541 | V>I | No |
ClinGen gnomAD |
|
|
rs147451659 CA6629650 |
542 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6629649 rs773258881 |
542 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6629651 rs147451659 |
542 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6629648 rs772351530 |
543 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149754671 CA237628982 |
553 | E>* | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 563 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385251415 rs1261616873 |
565 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385251392 rs1345939184 |
566 | M>T | No |
ClinGen gnomAD |
|
|
rs780814560 CA6629643 |
568 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs756792107 CA6629642 |
569 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6629641 rs201010961 |
571 | R>C | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs117027379 RCV000890577 CA6629639 |
571 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs117027379 CA6629640 |
571 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1424945546 CA385251351 |
572 | G>D | No |
ClinGen gnomAD |
|
|
rs372983554 CA237628817 |
578 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 581 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6629623 rs777411298 COSM1299669 |
582 | R>W | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA385251161 rs1170103038 |
584 | F>S | No |
ClinGen TOPMed |
|
|
rs573135435 CA6629621 |
585 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6629620 rs778648628 |
587 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA385251111 rs1370860699 |
588 | P>R | No |
ClinGen TOPMed |
|
|
rs1165605839 CA385251084 |
590 | A>V | No |
ClinGen gnomAD |
|
|
rs200653287 CA385251056 |
594 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1404763144 CA385251054 |
594 | G>D | No |
ClinGen TOPMed |
|
|
rs200653287 CA6629615 |
594 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs761907531 CA6629613 |
596 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA385251032 rs1197598206 |
598 | A>G | No |
ClinGen gnomAD |
|
|
rs1197598206 CA385251031 |
598 | A>V | No |
ClinGen gnomAD |
|
|
CA237628706 rs759454184 |
604 | S>L | No |
ClinGen gnomAD |
|
|
rs1380681576 CA385250975 |
607 | G>S | No |
ClinGen TOPMed |
|
|
rs575600657 CA6629609 |
608 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA237628648 rs373116524 |
613 | I>T | No |
ClinGen ESP TOPMed |
|
|
CA6629607 rs763998327 |
616 | W>R | No |
ClinGen ExAC gnomAD |
|
|
COSM106316 CA237628616 rs146535950 |
618 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 619 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237628610 rs886355232 |
620 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA385250869 rs1484081888 |
623 | Q>E | No |
ClinGen TOPMed |
|
|
CA385250853 rs1325843490 |
625 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 626 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6629604 rs747687739 |
628 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385250830 rs1397167277 |
628 | M>T | No |
ClinGen gnomAD |
|
|
CA6629605 rs199604179 |
628 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61937686 CA237627313 |
631 | L>M | No |
ClinGen gnomAD |
|
|
rs61937686 CA385250419 |
631 | L>V | No |
ClinGen gnomAD |
|
|
CA237627276 rs1872438 |
633 | I>K | No |
ClinGen Ensembl |
|
|
rs62000382 CA6629603 RCV000967275 |
633 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6629602 rs768300457 |
634 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1419757104 CA385250355 |
636 | A>P | No |
ClinGen gnomAD |
|
|
rs1266675364 CA385250343 |
637 | Y>N | No |
ClinGen gnomAD |
|
|
CA6629601 rs749076173 |
638 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779954394 CA6629600 |
639 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA385250290 rs1390234122 |
641 | G>E | No |
ClinGen TOPMed |
|
|
CA385250293 rs1267580824 |
641 | G>R | No |
ClinGen gnomAD |
|
|
CA385250271 rs1349593686 |
643 | S>G | No |
ClinGen gnomAD |
|
|
rs1485232585 CA385250133 |
649 | G>E | No |
ClinGen TOPMed |
|
|
CA6629582 rs748987879 |
649 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1430556613 CA385250127 |
650 | D>N | No |
ClinGen gnomAD |
|
|
CA385250071 rs1375045576 |
654 | G>W | No |
ClinGen gnomAD |
|
|
CA6629579 rs745669460 |
656 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781130461 CA6629578 |
661 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA385249954 rs1395705995 |
662 | E>Q | No |
ClinGen gnomAD |
|
|
rs1157602983 CA385249917 |
664 | C>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 665 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757267995 CA6629577 |
668 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6629576 rs754585029 |
668 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6629575 rs778059388 |
670 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458316425 CA385249840 |
670 | G>R | No |
ClinGen gnomAD |
|
|
CA6629574 rs758673507 |
671 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1256350922 CA385249821 |
671 | S>R | No |
ClinGen gnomAD |
|
|
CA385249799 rs1592437304 |
673 | T>P | No |
ClinGen Ensembl |
|
|
rs1592437293 CA385249779 |
674 | V>G | No |
ClinGen Ensembl |
|
|
rs754158169 CA6629570 |
674 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6629571 rs754158169 |
674 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766904646 CA6629569 |
675 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA385249774 rs1388011098 |
675 | R>Q | No |
ClinGen TOPMed |
|
|
rs761227821 CA6629568 |
676 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1272334136 CA385249734 |
679 | T>A | No |
ClinGen gnomAD |
|
|
CA385249668 rs1416784081 |
684 | L>F | No |
ClinGen gnomAD |
|
|
rs376831672 CA6629565 |
685 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385249620 rs1230176963 |
687 | P>L | No |
ClinGen TOPMed |
|
|
rs371854817 CA6629564 |
689 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA237626821 rs371854817 |
689 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769342004 CA6629563 |
691 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769342004 CA385249563 |
691 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6629562 rs745613038 |
692 | S>R | No |
ClinGen ExAC |
|
|
rs960988263 CA237626790 |
693 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6629547 CA237626627 rs368582731 |
698 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385249467 rs1215934501 COSM1188528 |
699 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA385249466 rs1215934501 |
699 | Y>F | No |
ClinGen gnomAD |
|
|
CA385249469 rs1271722504 |
699 | Y>H | No |
ClinGen gnomAD |
|
|
rs1565633880 CA385249451 |
701 | F>V | No |
ClinGen Ensembl |
|
|
rs1483831863 CA385249445 |
702 | A>T | No |
ClinGen TOPMed |
|
|
rs141605927 CA6629544 |
702 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6629543 rs759172607 |
707 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6629542 rs371921550 |
707 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA385249409 rs1370114878 |
708 | S>G | No |
ClinGen gnomAD |
|
|
CA385249342 rs1232646286 |
717 | A>S | No |
ClinGen TOPMed |
|
|
CA385249333 rs1323726351 |
718 | W>* | No |
ClinGen gnomAD |
|
|
CA6629541 rs562408063 |
727 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385249258 rs1157920767 |
728 | T>M | No |
ClinGen gnomAD |
|
|
CA385249219 rs1210369363 |
732 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs149370385 CA6629519 |
735 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6629518 rs772121067 |
735 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 739 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6629517 rs138946880 |
739 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385249167 rs1294637926 |
740 | I>T | No |
ClinGen gnomAD |
|
|
CA6629516 rs774456399 |
744 | N>S | No |
ClinGen ExAC |
|
|
CA237626247 rs564340397 |
746 | E>K | No |
ClinGen 1000Genomes |
|
|
CA6629515 rs768577660 |
748 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA385249106 rs1298434822 |
749 | S>T | No |
ClinGen gnomAD |
|
|
CA385249093 rs1373113892 |
751 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 752 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6629513 rs780189792 |
757 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA385249039 rs1565633650 |
758 | M>T | No |
ClinGen Ensembl |
|
|
rs1467037824 CA385249032 |
759 | Q>* | No |
ClinGen gnomAD |
|
|
rs752683998 CA6629502 |
762 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1464230571 CA385248992 |
763 | A>D | No |
ClinGen gnomAD |
|
|
rs767254549 CA6629500 |
764 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6629497 rs764102682 |
766 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs774103783 CA6629498 |
766 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs557204599 CA6629496 |
767 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs557204599 CA6629495 |
767 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1378938591 CA385248964 |
767 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 769 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6629493 rs373635242 |
772 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6629491 rs202247521 |
772 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373635242 CA6629492 |
772 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6629490 rs747424402 |
773 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6629488 rs758949419 |
774 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6629489 rs778086774 |
774 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6629487 rs778946698 |
776 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237625943 rs754998068 |
780 | E>* | No |
ClinGen TOPMed |
|
|
CA6629485 rs755797082 |
782 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6629486 rs755797082 |
782 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs750054194 CA6629484 |
782 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385248731 rs1352022479 |
786 | W>G | No |
ClinGen TOPMed |
|
|
CA237625812 rs1012655279 |
789 | L>Q | No |
ClinGen TOPMed |
|
|
CA385248622 rs1394484118 |
791 | S>G | No |
ClinGen gnomAD |
|
|
CA385248618 rs1394484118 |
791 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 792 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385248608 rs1290582468 |
792 | P>T | No |
ClinGen TOPMed |
|
|
rs1234283391 CA385248546 |
797 | V>L | No |
ClinGen gnomAD |
|
|
CA237625791 rs1056933448 |
798 | C>F | No |
ClinGen TOPMed |
|
|
rs1452448658 CA385248532 |
798 | C>R | No |
ClinGen gnomAD |
|
|
CA6629463 rs61761600 |
799 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6629461 rs758303530 |
800 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs34404784 CA6629460 |
801 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1223518454 CA385248496 |
801 | I>V | No |
ClinGen TOPMed |
|
|
CA6629459 rs765184824 |
803 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA237625747 rs199714988 COSM242588 |
807 | V>I | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 812 | S>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6629456 rs374183347 |
812 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761017797 CA6629455 |
814 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA237625695 rs761017797 |
814 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773416893 CA6629454 |
814 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1403751254 CA385248238 |
815 | M>V | No |
ClinGen gnomAD |
|
|
rs1361573847 CA385248203 |
817 | M>R | No |
ClinGen TOPMed |
|
|
CA385248185 rs1473453492 |
819 | K>E | No |
ClinGen TOPMed |
|
|
CA6629453 rs566733976 |
819 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6629452 rs762290452 |
823 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs368888731 CA6629451 |
827 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397613408 CA385248060 |
828 | W>* | No |
ClinGen TOPMed |
|
|
CA6629450 rs769287399 |
828 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1474969781 CA385248013 |
831 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA385248015 rs1474969781 |
831 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA385248006 rs1565633331 |
832 | D>Y | No |
ClinGen Ensembl |
|
|
rs1195423318 CA385247969 |
834 | M>T | No |
ClinGen gnomAD |
|
|
CA385247872 rs1271526369 |
837 | G>D | No |
ClinGen gnomAD |
|
|
rs1380025008 CA385247853 |
839 | A>G | No |
ClinGen gnomAD |
|
|
rs1230175287 CA385247859 |
839 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA385247843 rs1279008658 |
840 | R>K | No |
ClinGen gnomAD |
|
|
rs777351373 CA6629427 |
841 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1441437616 CA385247835 |
841 | A>P | No |
ClinGen gnomAD |
|
|
rs1441437616 CA385247836 |
841 | A>T | No |
ClinGen gnomAD |
|
|
rs771717064 CA6629426 |
843 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6629425 rs184359353 |
845 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385247806 rs1465957099 |
845 | H>Y | No |
ClinGen gnomAD |
|
|
rs374756178 CA6629422 |
846 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374756178 CA6629424 |
846 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374756178 CA6629423 |
846 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385247787 rs1406690705 |
848 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA385247789 rs1406690705 |
848 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA385247784 rs1272933919 |
849 | V>M | No |
ClinGen gnomAD |
|
|
CA6629420 rs756160973 |
853 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA385247726 rs1592434804 |
857 | V>G | No |
ClinGen Ensembl |
|
|
CA385247722 rs1240559707 |
858 | H>R | No |
ClinGen gnomAD |
|
|
CA385247705 rs1468326312 |
861 | D>Y | No |
ClinGen gnomAD |
|
|
rs192249493 CA6629416 COSM1260851 |
863 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6629417 rs192249493 |
863 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3936060 CA385247690 rs1224113933 |
863 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs764589643 CA6629414 |
864 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765681170 CA6629409 |
866 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA385247673 rs1291550069 |
866 | G>D | No |
ClinGen gnomAD |
|
|
rs760169560 CA6629408 |
873 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6629406 rs771700718 |
881 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385247564 rs1159974237 |
882 | K>R | No |
ClinGen TOPMed |
|
|
CA385247557 rs1417338344 |
883 | E>A | No |
ClinGen gnomAD |
|
| rs767055164 | 884 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385247540 rs1264048253 |
884 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761334179 CA6629388 |
885 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6629387 rs773933154 |
889 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA237625171 rs905364394 |
890 | W>C | No |
ClinGen gnomAD |
|
|
rs368014088 CA237625170 |
891 | Y>C | No |
ClinGen ESP |
|
| TCGA novel | 893 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312591669 CA385247468 |
894 | N>S | No |
ClinGen gnomAD |
|
|
rs1216470039 CA385247420 |
901 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 903 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385247403 rs1278338379 |
903 | K>T | No |
ClinGen gnomAD |
|
|
CA237624913 rs865921555 |
904 | H>Y | No |
ClinGen Ensembl |
|
|
CA237624909 rs1003639141 |
905 | E>* | No |
ClinGen gnomAD |
|
|
CA385246743 rs1003639141 |
905 | E>K | No |
ClinGen gnomAD |
|
|
rs777618846 CA237624901 |
906 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA385246713 rs1338841631 |
909 | F>S | No |
ClinGen TOPMed |
|
|
rs1338841631 CA385246714 |
909 | F>Y | No |
ClinGen TOPMed |
|
|
rs905352226 CA237624890 |
910 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 910 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 911 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225903480 CA385246700 |
911 | M>T | No |
ClinGen TOPMed |
|
|
CA6629359 rs747085994 |
911 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1266768083 CA385246668 |
915 | V>L | No |
ClinGen gnomAD |
|
|
CA385246650 rs1323432243 |
918 | I>V | No |
ClinGen TOPMed |
|
|
rs777773331 CA6629358 |
919 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs748360888 CA6629356 |
920 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 920 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs890738162 CA237624859 |
920 | Y>S | No |
ClinGen TOPMed |
|
|
rs374080708 CA6629355 |
923 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6629354 rs369878938 |
924 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA237624848 rs1023848217 |
924 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 926 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6629353 rs183997534 |
927 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1565632784 CA385246585 |
928 | S>Y | No |
ClinGen Ensembl |
|
|
CA385246577 rs1429978298 |
929 | R>S | No |
ClinGen TOPMed |
|
|
CA237624816 rs993686975 |
929 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1005789164 CA237624812 |
930 | Y>H | No |
ClinGen TOPMed |
|
|
CA6629351 rs756671120 |
933 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 937 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1005278068 CA237623864 |
937 | P>L | No |
ClinGen TOPMed |
|
|
CA6629333 rs147887898 |
937 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1012725004 CA237623857 |
938 | I>V | No |
ClinGen gnomAD |
|
|
rs1592429544 CA385246172 |
940 | A>G | No |
ClinGen Ensembl |
|
|
rs1278537444 CA385246166 |
941 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA385246164 rs1278537444 |
941 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6629332 rs781732740 |
945 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1256930591 CA385246079 |
948 | S>L | No |
ClinGen gnomAD |
|
|
CA237623845 rs951876584 |
949 | L>V | No |
ClinGen gnomAD |
|
|
CA6629327 rs753664652 |
951 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754739511 CA6629328 |
951 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371396361 CA6629325 |
954 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6629326 rs766317790 |
954 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 956 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385245965 rs1464842694 |
957 | H>R | No |
ClinGen gnomAD |
|
|
rs148704380 CA6629324 |
957 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1565631731 CA385245908 |
961 | I>T | No |
ClinGen Ensembl |
|
|
rs1236330091 CA385245883 |
963 | L>P | No |
ClinGen gnomAD |
|
|
CA6629322 rs187297132 |
963 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6629320 rs202174999 |
965 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6629318 rs775717091 |
970 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs879005221 CA237623787 |
970 | Q>R | No |
ClinGen Ensembl |
|
|
rs1008299502 CA237623762 |
971 | I>M | No |
ClinGen Ensembl |
|
|
CA6629317 rs145100205 |
971 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6629316 rs145100205 |
971 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1316386138 CA385245769 |
972 | G>E | No |
ClinGen gnomAD |
|
|
CA385245644 rs1219436735 |
983 | T>A | No |
ClinGen gnomAD |
|
|
CA237623745 rs891177713 |
986 | E>D | No |
ClinGen Ensembl |
|
|
rs1282480792 CA385245604 COSM694477 |
986 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs764114884 CA6629301 |
989 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA6629299 rs775629100 |
992 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368678752 CA6629298 |
992 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA385245293 rs1379636245 |
1005 | M>I | No |
ClinGen TOPMed |
|
|
CA385245307 rs1191070101 |
1005 | M>V | No |
ClinGen TOPMed |
|
|
rs1565631587 CA385245176 |
1014 | R>Q | No |
ClinGen Ensembl |
|
|
rs747591622 CA6629294 |
1015 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA237623667 rs372136319 |
1017 | G>A | No |
ClinGen gnomAD |
|
|
CA385245142 rs372136319 |
1017 | G>E | No |
ClinGen gnomAD |
|
|
rs1565631572 CA385245133 |
1018 | P>S | No |
ClinGen Ensembl |
|
|
CA6629293 rs367895499 |
1019 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6629292 rs202049713 |
1021 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237623638 rs182178642 |
1021 | G>C | No |
ClinGen 1000Genomes |
|
|
CA6629291 rs202049713 |
1021 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs976544548 CA237623633 |
1022 | I>T | No |
ClinGen TOPMed |
|
|
CA385245047 rs759867021 |
1024 | F>L | No |
ClinGen gnomAD |
|
|
rs1438348851 CA385245008 |
1027 | D>Y | No |
ClinGen gnomAD |
|
|
CA385244786 rs1161543698 |
1041 | Q>E | No |
ClinGen gnomAD |
|
|
CA237623428 rs962300012 |
1043 | S>L | No |
ClinGen Ensembl |
|
|
CA385244703 rs1424649151 |
1046 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1050 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs891129705 CA237623393 |
1056 | S>A | No |
ClinGen Ensembl |
|
|
CA6629261 rs759569965 |
1058 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1316872032 CA385244530 |
1059 | L>V | No |
ClinGen TOPMed |
|
|
rs1237428908 CA385244516 |
1060 | T>I | No |
ClinGen TOPMed |
|
|
rs754047255 CA6629260 |
1064 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761056104 COSM138025 CA6629258 |
1070 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6629257 rs773767981 |
1070 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385244361 rs1235579952 |
1072 | L>F | No |
ClinGen gnomAD |
|
|
CA385244348 rs1323907355 |
1073 | I>L | No |
ClinGen gnomAD |
|
|
rs1213117050 CA385244338 |
1073 | I>M | No |
ClinGen TOPMed |
|
|
CA385244314 rs1216353311 |
1075 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6629255 rs762445918 |
1076 | G>E | No |
ClinGen ExAC |
|
|
CA385244291 rs1592428643 |
1078 | K>Q | No |
ClinGen Ensembl |
|
|
rs776279406 CA6629251 |
1089 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1097 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385244095 rs1480224394 |
1101 | L>V | No |
ClinGen TOPMed |
|
|
rs1175234626 CA385244080 |
1103 | T>A | No |
ClinGen TOPMed |
|
|
CA6629228 rs764512601 |
1105 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776065284 CA6629226 |
1107 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746705011 CA6629225 |
1108 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs746705011 CA6629224 |
1108 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA385244043 rs1208822059 |
1109 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1487237094 CA385244033 |
1110 | P>S | No |
ClinGen gnomAD |
|
|
CA6629223 rs375649878 |
1111 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA385244028 rs1414932329 |
1111 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs771809067 CA6629222 |
1113 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385244016 rs1353599427 |
1113 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 1114 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385243998 rs1307612669 |
1115 | I>M | No |
ClinGen gnomAD |
|
|
rs747912929 CA6629221 |
1118 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1119 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1460837246 CA385243934 |
1125 | L>P | No |
ClinGen TOPMed |
|
|
rs1592427004 CA385243912 |
1127 | L>M | No |
ClinGen Ensembl |
|
| TCGA novel | 1128 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761667827 CA6629204 |
1131 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385243884 rs1226076614 |
1131 | G>R | No |
ClinGen gnomAD |
|
|
CA6629203 rs774074990 |
1137 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1137 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1138 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385243823 rs1430976144 |
1139 | D>G | No |
ClinGen gnomAD |
|
|
CA6629202 rs768605629 |
1140 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs573674117 CA385243814 COSM1168761 |
1141 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM347536 CA6629201 rs749136909 |
1141 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA237622742 rs573674117 |
1141 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs780158542 CA6629199 |
1145 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1326030570 CA385243771 |
1148 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs745946532 CA6629197 |
1148 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6629195 rs757476374 |
1153 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6629193 rs758823204 |
1158 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs758823204 CA6629192 |
1158 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6629191 rs753096524 |
1160 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1163 | F>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760115869 CA6629189 |
1164 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385243655 rs1337014839 |
1165 | K>R | No |
ClinGen gnomAD |
|
|
rs1416828182 CA385243624 |
1170 | L>V | No |
ClinGen gnomAD |
|
|
CA6629188 rs750005813 |
1171 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1182235992 CA385243579 |
1176 | K>R | No |
ClinGen gnomAD |
|
|
CA237622689 rs994467404 |
1177 | M>I | No |
ClinGen Ensembl |
|
|
rs139327769 CA6629186 |
1178 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 1178 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357284475 CA385243552 |
1179 | W>C | No |
ClinGen Ensembl |
|
|
rs1244098364 CA385243535 |
1182 | P>S | No |
ClinGen gnomAD |
|
|
rs1456601581 CA385243522 |
1184 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1215244980 CA385243513 |
1185 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1275286945 CA385243516 |
1185 | E>Q | No |
ClinGen gnomAD |
|
|
rs758558994 CA385243496 |
1187 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283548230 CA385243491 |
1188 | T>I | No |
ClinGen gnomAD |
|
|
rs908280121 CA237622680 |
1188 | T>P | No |
ClinGen TOPMed |
|
|
rs1484947606 CA385243486 |
1189 | S>T | No |
ClinGen TOPMed |
|
|
CA385242916 rs1282447223 |
1193 | A>V | No |
ClinGen TOPMed |
|
|
rs146235856 CA6629172 |
1194 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385242903 rs1361484607 |
1195 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385242853 rs1280964366 |
1199 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs779392860 CA6629171 |
1200 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1330054285 VAR_036359 COSM32985 CA385242824 |
1201 | A>V | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
rs1044884873 CA237622427 |
1203 | L>W | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q504Q3
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.13.4 | Exoribonucleases producing 5'-phosphomonoesters |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| P-body | A focus in the cytoplasm where mRNAs may become inactivated by decapping or some other mechanism. Protein and RNA localized to these foci are involved in mRNA degradation, nonsense-mediated mRNA decay (NMD), translational repression, and RNA-mediated gene silencing. |
| PAN complex | A complex that possesses poly(A)-specific ribonuclease activity; catalyzes the message-specific shortening of mRNA poly(A) tails. Contains at least two subunits, known as Pan2p and Pan3p in Saccharomyces. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3'-5'-exoribonuclease activity | Catalysis of the sequential cleavage of mononucleotides from a free 3' terminus of an RNA molecule. |
| metal ion binding | Binding to a metal ion. |
| nucleic acid binding | Binding to a nucleic acid. |
| poly(A)-specific ribonuclease activity | Catalysis of the exonucleolytic cleavage of poly(A) to 5'-AMP. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA processing | Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide. |
| nuclear-transcribed mRNA poly(A) tail shortening | Shortening of the poly(A) tail of a nuclear-transcribed mRNA from full length to an oligo(A) length. |
| positive regulation of cytoplasmic mRNA processing body assembly | Any process that increases the rate, frequency, or extent of the aggregation, arrangement and bonding together of proteins and RNA molecules to form a cytoplasmic mRNA processing body. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8BGF7 | Pan2 | PAN2-PAN3 deadenylation complex catalytic subunit Pan2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNFEGLDPGL | AEYAPAMHSA | LDPVLDAHLN | PSLLQNVELD | PEGVALEALP | VQESVHIMEG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VYSELHSVVA | EVGVPVSVSH | FDLHEEMLWV | GSHGGHATSF | FGPALERYSS | FQVNGSDDIR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QIQSLENGIL | FLTKNNLKYM | ARGGLIIFDY | LLDENEDMHS | LLLTDSSTLL | VGGLQNHIIE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IDLNTVQETQ | KYAVETPGVT | IMRQTNRFFF | CGHTSGKVSL | RDLRTFKVEH | EFDAFSGSLS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DFDVHGNLLA | ACGFSSRLTG | LACDRFLKVY | DLRMMRAITP | LQVHVDPAFL | RFIPTYTSRL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AIISQSGQCQ | FCEPTGLANP | ADIFHVNPVG | PLLMTFDVSA | SKQALAFGDS | EGCVHLWTDS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PEPSFNPYSR | ETEFALPCLV | DSLPPLDWSQ | DLLPLSLIPV | PLTTDTLLSD | WPAANSAPAP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RRAPPVDAEI | LRTMKKVGFI | GYAPNPRTRL | RNQIPYRLKE | SDSEFDSFSQ | VTESPVGREE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EPHLHMVSKK | YRKVTIKYSK | LGLEDFDFKH | YNKTLFAGLE | PHIPNAYCNC | MIQVLYFLEP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VRCLIQNHLC | QKEFCLACEL | GFLFHMLDLS | RGDPCQGNNF | LRAFRTIPEA | SALGLILADS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DEASGKGNLA | RLIQRWNRFI | LTQLHQDMQE | LEIPQAYRGA | GGSSFCSSGD | SVIGQLFSCE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| MENCSLCRCG | SETVRASSTL | LFTLSYPDGS | KSDKTGKNYD | FAQVLKRSIC | LDQNTQAWCD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TCEKYQPTIQ | TRNIRHLPDI | LVINCEVNSS | KEADFWRMQA | EVAFKMAVKK | HGGEISKNKE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| FALADWKELG | SPEGVLVCPS | IEELKNVWLP | FSIRMKMTKN | KGLDVCNWTD | GDEMQWGPAR |
| 850 | 860 | 870 | 880 | 890 | 900 |
| AEEEHGVYVY | DLMATVVHIL | DSRTGGSLVA | HIKVGETYHQ | RKEGVTHQQW | YLFNDFLIEP |
| 910 | 920 | 930 | 940 | 950 | 960 |
| IDKHEAVQFD | MNWKVPAILY | YVKRNLNSRY | NLNIKNPIEA | SVLLAEASLA | RKQRKTHTTF |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| IPLMLNEMPQ | IGDLVGLDAE | FVTLNEEEAE | LRSDGTKSTI | KPSQMSVARI | TCVRGQGPNE |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| GIPFIDDYIS | TQEQVVDYLT | QYSGIKPGDL | DAKISSKHLT | TLKSTYLKLR | FLIDIGVKFV |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| GHGLQKDFRV | INLMVPKDQV | LDTVYLFHMP | RKRMISLRFL | AWYFLDLKIQ | GETHDSIEDA |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| RTALQLYRKY | LELSKNGTEP | ESFHKVLKGL | YEKGRKMDWK | VPEPEGQTSP | KNAAVFSSVL |
| AL |