Q13087
Gene name |
PDIA2 (PDIP) |
Protein name |
Protein disulfide-isomerase A2 |
Names |
Pancreas-specific protein disulfide isomerase, PDIp |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64714 |
EC number |
5.3.4.1: Transposing S-S bonds |
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 Q13087
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q13087-F1 | Predicted | AlphaFoldDB |
695 variants for Q13087
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001263409 rs373590123 CA394053693 |
128 | R>H | Bicuspid aortic valve [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs375763771 CA7772764 |
3 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7772765 rs200211074 |
3 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7772766 rs200211074 |
3 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394049227 rs1369867447 |
4 | Q>H | No |
ClinGen gnomAD |
|
|
rs1231624291 CA394049245 |
5 | L>P | No |
ClinGen gnomAD |
|
|
rs759297031 CA7772768 |
7 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA276491596 rs764795732 |
8 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764795732 CA7772769 |
8 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927724382 CA276491613 |
14 | L>F | No |
ClinGen gnomAD |
|
|
CA276491618 rs866883356 |
16 | A>S | No |
ClinGen Ensembl |
|
|
rs938980328 CA276491621 |
16 | A>V | No |
ClinGen Ensembl |
|
|
rs762917912 CA7772775 |
17 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762917912 CA394049592 |
17 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7772777 rs751357691 |
19 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7772778 rs757040076 |
19 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751357691 CA394049656 |
19 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs199610908 CA7772780 |
20 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1458651907 CA394049743 |
21 | G>D | No |
ClinGen TOPMed |
|
|
CA7772781 rs755205619 |
22 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA276491648 rs762913132 |
23 | E>K | No |
ClinGen gnomAD |
|
|
rs778893713 CA394049887 |
24 | Q>* | No |
ClinGen ExAC |
|
|
rs778893713 CA7772782 |
24 | Q>E | No |
ClinGen ExAC |
|
|
CA394049898 rs1393107730 |
24 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7772784 rs202221434 |
26 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
COSM1579866 rs202221434 CA7772783 |
26 | A>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed |
|
rs771161420 CA7772788 |
27 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745460507 CA7772790 |
28 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567248767 CA394050149 |
29 | P>L | No |
ClinGen Ensembl |
|
|
rs910032721 CA276491662 |
29 | P>S | No |
ClinGen TOPMed |
|
|
CA7772792 rs769578461 |
30 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769578461 CA7772791 |
30 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224830898 CA394050219 |
31 | E>D | No |
ClinGen gnomAD |
|
|
rs1289719460 CA394050237 |
32 | E>G | No |
ClinGen gnomAD |
|
|
rs1215589103 CA394050266 |
33 | P>L | No |
ClinGen gnomAD |
|
|
rs200720054 CA7772795 |
33 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1253905972 CA394050272 |
34 | P>A | No |
ClinGen gnomAD |
|
|
CA7772796 rs376929316 |
34 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 35 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230960382 CA394050353 |
36 | E>G | No |
ClinGen gnomAD |
|
|
CA7772797 rs767154871 |
37 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1159091193 CA394050482 |
38 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs45455191 CA7772798 VAR_048087 |
39 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs752750026 CA7772801 |
41 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765500005 CA7772800 |
41 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390455232 CA394050689 |
42 | D>N | No |
ClinGen gnomAD |
|
|
CA276491698 rs917510924 |
43 | G>R | No |
ClinGen TOPMed |
|
|
rs768170675 CA394050780 |
44 | I>F | No |
ClinGen Ensembl |
|
|
CA276491701 rs768170675 |
44 | I>V | No |
ClinGen Ensembl |
|
|
CA276491705 rs962094564 |
45 | L>S | No |
ClinGen gnomAD |
|
|
CA7772803 rs777942192 |
46 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7772804 rs751962286 |
47 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333287299 CA394050899 |
48 | S>R | No |
ClinGen gnomAD |
|
|
CA394050952 rs1273873474 |
49 | R>C | No |
ClinGen gnomAD |
|
|
CA7772805 rs757796245 |
49 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757796245 CA394050961 |
49 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394050979 rs1173496190 |
50 | H>Y | No |
ClinGen TOPMed |
|
|
CA394051021 rs1389951094 |
51 | T>S | No |
ClinGen Ensembl |
|
|
CA7772807 rs746305346 |
52 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA394051074 rs1390253242 |
53 | G>D | No |
ClinGen TOPMed |
|
|
CA394051054 rs1474173477 |
53 | G>S | No |
ClinGen gnomAD |
|
|
rs748977033 CA7772811 |
55 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7772813 rs773922251 |
56 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200654902 CA7772817 |
57 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199805826 CA7772816 |
57 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1567248858 CA394051201 |
59 | H>R | No |
ClinGen Ensembl |
|
|
CA394051221 rs1294374909 |
61 | A>T | No |
ClinGen gnomAD |
|
|
CA7772820 rs368323306 |
61 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394051279 rs1567248879 |
66 | F>V | No |
ClinGen Ensembl |
|
|
rs1316332169 CA394052630 |
67 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1408537527 CA394052644 |
68 | A>D | No |
ClinGen TOPMed |
|
|
rs372266436 CA7772854 |
69 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA276492808 rs372266436 |
69 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1567249329 CA394052672 |
70 | W>* | No |
ClinGen Ensembl |
|
|
rs1329266665 CA394052680 |
70 | W>* | No |
ClinGen gnomAD |
|
|
CA394052696 rs1212479825 |
71 | C>Y | No |
ClinGen gnomAD |
|
|
CA394052730 rs1477973238 |
73 | H>R | No |
ClinGen gnomAD |
|
|
CA394052724 rs1250795993 |
73 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA394052748 rs1192198945 |
74 | C>Y | No |
ClinGen gnomAD |
|
|
rs1003087839 CA276492814 |
77 | L>M | No |
ClinGen TOPMed |
|
|
rs1417637061 CA394052798 |
78 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA394052797 rs1417637061 |
78 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394052799 rs1417637061 COSM1377036 |
78 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA394052806 rs1161939680 |
79 | P>L | No |
ClinGen gnomAD |
|
|
rs1035512919 CA276492822 |
80 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7772859 rs757884006 |
81 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA276492823 rs763297114 |
81 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1228280751 CA394052850 |
82 | S>G | No |
ClinGen TOPMed |
|
|
CA276492831 rs958809173 |
83 | K>N | No |
ClinGen TOPMed |
|
|
rs1596940841 CA394052873 |
83 | K>R | No |
ClinGen Ensembl |
|
|
rs1466415986 CA394052894 |
84 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 86 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394052931 rs199987128 |
87 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7772863 rs199987128 |
87 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1232202844 CA394052967 |
89 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs768743092 CA7772865 |
89 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 90 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs558374938 CA7772868 |
91 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs558374938 CA7772869 |
91 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs754129630 CA7772872 |
92 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs767047256 CA7772871 |
92 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA7772874 rs765549988 |
93 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs115506610 CA7772873 |
93 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs951592626 CA276492886 |
94 | V>A | No |
ClinGen TOPMed |
|
|
rs752347005 CA7772875 |
94 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7772876 rs371790739 |
96 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs746588565 CA7772878 |
98 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA394053138 rs1351097761 |
99 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs937133936 CA276492906 |
100 | V>M | No |
ClinGen Ensembl |
|
|
CA394053166 rs1309797134 |
101 | D>A | No |
ClinGen TOPMed |
|
|
CA276492907 rs1055378239 |
101 | D>N | No |
ClinGen Ensembl |
|
|
rs1222510850 CA394053176 |
102 | G>R | No |
ClinGen TOPMed |
|
|
CA7772880 rs781159293 |
103 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916947925 CA276492910 |
103 | P>S | No |
ClinGen gnomAD |
|
|
CA394053211 rs1037921792 |
104 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs202228688 CA7772881 |
104 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1037921792 CA276492920 |
104 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 105 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1454432383 CA394053219 |
105 | Q>E | No |
ClinGen TOPMed |
|
|
CA7772883 rs199711437 |
106 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7772885 rs748331680 |
106 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA394053255 rs1485510620 |
107 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7772887 rs773408295 |
107 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs771532613 CA7772889 |
111 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1379486227 CA394053277 |
111 | E>A | No |
ClinGen TOPMed |
|
|
rs1478473384 CA394053325 |
113 | G>A | No |
ClinGen gnomAD |
|
|
rs182349041 CA394053367 |
115 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs182349041 CA7772893 |
115 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394053370 rs182349041 |
115 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7772895 rs187002943 |
116 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750328553 CA7772899 |
117 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7772898 rs756805133 |
117 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs750328553 CA394053419 |
117 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7772897 rs756805133 |
117 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA276492974 rs755831573 |
118 | P>S | No |
ClinGen gnomAD |
|
|
CA7772900 rs756007429 |
119 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA394053454 rs45614840 |
119 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7772902 rs45614840 |
119 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_048088 rs45614840 CA7772901 |
119 | T>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs747264012 CA7772906 |
123 | F>S | No |
ClinGen ExAC TOPMed |
|
|
CA7772907 rs771084733 |
124 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374722948 CA7772908 |
124 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374722948 CA394053590 |
124 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs770272113 CA7772910 |
125 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1031621023 CA276493055 |
126 | G>R | No |
ClinGen TOPMed |
|
|
CA7772913 rs367938749 |
128 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367938749 CA394053684 |
128 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373590123 CA276493068 |
128 | R>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
COSM970406 CA7772914 rs200818617 |
129 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201820740 CA7772916 |
130 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774230086 CA7772918 |
131 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7772917 rs749965703 |
131 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1041992279 CA276493103 |
132 | E>G | No |
ClinGen gnomAD |
|
|
CA7772921 rs754780227 |
132 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7772922 rs778870993 |
133 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM970407 CA7772923 rs767849091 |
135 | T>A | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7772925 rs781330118 |
135 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs767849091 CA7772924 |
135 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409795593 CA394053942 |
136 | G>E | No |
ClinGen gnomAD |
|
|
rs532272495 CA7772926 CA7772927 |
136 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394053951 rs1355725772 |
137 | P>S | No |
ClinGen TOPMed |
|
|
rs11863142 CA7772958 |
138 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771720140 CA7772957 |
138 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7772959 rs760396848 |
139 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7772962 rs776284985 |
140 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776284985 CA7772961 |
140 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325095825 CA394054018 |
142 | G>A | No |
ClinGen TOPMed |
|
|
CA7772964 rs578059477 |
142 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs867457169 CA276493382 |
144 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1378974329 CA394054060 |
145 | E>A | No |
ClinGen TOPMed |
|
|
CA7772966 rs200919010 |
145 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394054079 rs1473959162 |
146 | W>* | No |
ClinGen gnomAD |
|
|
CA394054074 rs1255958422 |
146 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7772967 rs750565788 |
147 | L>V | No |
ClinGen ExAC TOPMed |
|
|
CA7772969 rs370453080 |
148 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780045155 CA7772970 |
148 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367684102 CA7772972 |
149 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753974693 CA7772971 |
149 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7772974 rs200585521 |
150 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7772973 rs370270759 |
150 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778212401 CA7772977 |
151 | V>G | No |
ClinGen ExAC |
|
|
rs772275346 CA7772976 |
151 | V>M | No |
ClinGen ExAC |
|
|
rs1374142072 CA394054169 |
152 | G>W | No |
ClinGen gnomAD |
|
|
CA7772980 rs376065186 |
153 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394054193 rs1326141115 |
153 | P>L | No |
ClinGen gnomAD |
|
|
rs759166965 CA7772981 |
154 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA394054220 rs1394092266 |
155 | A>P | No |
ClinGen gnomAD |
|
|
CA7772982 rs769824488 |
155 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279575451 CA394054233 |
156 | M>I | No |
ClinGen gnomAD |
|
|
CA7772984 rs762974185 |
156 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA7772986 rs560699869 |
157 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7772985 rs369185635 |
157 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 158 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394054248 rs1190602550 |
159 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs45593734 CA394054259 |
160 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7772990 rs766634062 |
161 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368640160 CA7772991 |
162 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1384365120 CA394054273 |
163 | A>P | No |
ClinGen gnomAD |
|
|
rs1384365120 CA394054272 |
163 | A>T | No |
ClinGen gnomAD |
|
|
rs201535947 CA7772994 |
164 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201535947 CA7772995 |
164 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1435610988 CA394054292 |
165 | Q>E | No |
ClinGen gnomAD |
|
|
rs199979141 CA7772997 |
166 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7772996 rs199979141 |
166 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775081375 CA7773002 |
169 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA7773001 rs201182745 |
169 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768709968 CA7773004 |
171 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7773003 COSM3690984 rs200501001 |
171 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs374019509 CA7773005 |
172 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs767328855 CA7773008 |
174 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773007 rs761632618 |
174 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs759766478 CA7773010 |
175 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA394054427 rs1440859514 |
176 | I>N | No |
ClinGen Ensembl |
|
|
rs758817588 CA7773013 |
179 | F>L | No |
ClinGen ExAC TOPMed |
|
|
CA394054485 rs1173083838 |
180 | Q>* | No |
ClinGen TOPMed |
|
|
CA394054498 rs751841084 |
180 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs200228977 CA7773014 |
180 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7773042 rs754460211 |
181 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA394054563 rs754460211 |
181 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA276493713 rs778297395 |
182 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394054576 rs778297395 |
182 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413690564 CA394054585 |
183 | Q>* | No |
ClinGen gnomAD |
|
|
CA394054597 rs1489141451 |
183 | Q>H | No |
ClinGen gnomAD |
|
|
rs375612067 CA276493715 CA7773045 |
184 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748011037 CA7773044 |
184 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs769876785 CA394054623 |
185 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs419949 CA7773047 VAR_048089 |
185 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs372580263 CA7773050 |
187 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141542731 CA7773051 |
188 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA276493768 rs745414531 |
191 | L>S | No |
ClinGen Ensembl |
|
|
rs774579574 CA7773054 |
192 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7773058 rs750781857 |
194 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7773059 rs45619835 |
195 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394055715 rs543187098 |
196 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7773062 rs766673308 |
196 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA7773064 rs146199896 |
197 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394055759 rs1437576279 |
199 | D>H | No |
ClinGen TOPMed |
|
|
CA7773067 rs758307937 |
200 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs182786959 CA7773066 |
200 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746980351 CA394055857 |
203 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7773069 rs746980351 |
203 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA394055876 rs1347526797 |
204 | L>F | No |
ClinGen gnomAD |
|
|
CA276494853 rs1038326301 |
206 | D>V | No |
ClinGen TOPMed |
|
|
rs372281111 CA7773071 |
206 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs148442250 CA7773074 |
207 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7773072 rs554427910 |
207 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7773075 rs762036991 |
208 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7773077 rs529793670 |
208 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762036991 CA7773076 |
208 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs369120877 CA7773080 |
209 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376264450 CA7773079 |
209 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1053318654 CA394055973 |
210 | L>F | No |
ClinGen TOPMed |
|
|
rs1053318654 CA276494874 |
210 | L>V | No |
ClinGen TOPMed |
|
|
rs892882155 CA276494875 |
213 | Q>* | No |
ClinGen gnomAD |
|
|
rs1244866071 CA394056052 |
213 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA7773083 rs764918166 |
217 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394056109 rs764918166 |
217 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773085 rs372943195 |
218 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372943195 CA7773084 |
218 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394056149 rs1176357189 |
219 | D>N | No |
ClinGen TOPMed |
|
|
CA7773087 rs751457648 |
220 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7773089 rs376102312 |
221 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs868281531 | 221 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7773088 rs757148478 |
221 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1368890993 CA394056272 |
223 | L>F | No |
ClinGen gnomAD |
|
|
CA7773092 rs45591741 |
225 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1331246481 CA394056365 |
226 | K>* | No |
ClinGen gnomAD |
|
|
rs780004822 CA7773110 |
227 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1425090822 CA394056473 |
227 | F>S | No |
ClinGen TOPMed |
|
|
rs748310598 CA7773111 |
228 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA276494956 rs569780896 |
230 | G>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1305020712 CA394056532 |
230 | G>R | No |
ClinGen gnomAD |
|
|
rs569780896 CA394056547 |
230 | G>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs201566545 CA276494964 |
231 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA7773116 rs201566545 |
231 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA7773114 rs747106019 COSM1377038 |
231 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs577114086 CA7773117 |
234 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1356578822 CA394056657 |
235 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1356578822 CA394056653 |
235 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394056678 rs770087656 |
236 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773120 rs770087656 |
236 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs541312273 CA7773121 |
237 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394056704 rs367677538 CA394056702 |
237 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374948503 CA7773123 |
238 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7773125 rs370007425 |
239 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773893698 CA7773124 |
239 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA276494991 rs911653182 |
240 | L>R | No |
ClinGen TOPMed |
|
|
CA394056752 rs1401987181 |
240 | L>V | No |
ClinGen TOPMed |
|
|
CA394056818 rs1344215013 |
244 | L>V | No |
ClinGen gnomAD |
|
|
CA394056840 rs1422449017 |
245 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7773130 rs756121843 |
245 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA394056850 rs766270520 |
246 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773131 rs766270520 |
246 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237659912 CA394056860 |
246 | D>V | No |
ClinGen gnomAD |
|
|
rs200837199 CA276495023 |
247 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs747942356 CA7773136 |
248 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747942356 CA7773135 |
248 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773138 rs372835448 |
249 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394056914 rs372835448 |
249 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7773140 rs377242875 |
249 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7773139 rs377242875 |
249 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 250 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295126998 CA394057003 |
253 | T>I | No |
ClinGen gnomAD |
|
|
rs768269726 CA7773145 |
254 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA7773146 rs773839873 |
254 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA276495095 rs886348559 |
256 | M>T | No |
ClinGen TOPMed |
|
|
rs761537026 CA7773147 |
257 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773148 rs369322100 |
257 | R>H | Variant assessed as Somatic; 9.295e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs761537026 CA394057074 |
257 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394057084 rs1464156048 |
258 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 260 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7773150 rs376254895 |
260 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1238754809 CA394057137 |
261 | E>A | No |
ClinGen Ensembl |
|
|
CA7773153 rs759364401 |
262 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759364401 CA276495118 |
262 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773155 rs751675270 |
263 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596942728 CA394057187 |
263 | N>S | No |
ClinGen Ensembl |
|
|
CA394057207 rs1173222834 |
264 | S>N | No |
ClinGen gnomAD |
|
|
CA394057229 rs1388269706 |
265 | Q>* | No |
ClinGen gnomAD |
|
|
rs1455850363 CA394057242 CA394057240 |
265 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1448351156 CA394057237 |
265 | Q>R | No |
ClinGen gnomAD |
|
|
rs1366625634 CA394057337 |
266 | T>A | No |
ClinGen gnomAD |
|
|
CA7773189 rs147960863 |
266 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7773193 rs773377330 |
268 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1426497113 CA394057364 |
268 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1427611090 CA394057376 |
269 | K>T | No |
ClinGen TOPMed |
|
|
CA394057385 rs1414200240 |
270 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7773196 rs367835970 |
272 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372165409 CA7773197 |
272 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1260902071 CA394057426 |
273 | A>T | No |
ClinGen TOPMed |
|
|
rs753168115 CA7773199 |
274 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1340491207 CA394057440 |
274 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA276495316 rs1012031593 |
275 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA394057446 rs1012031593 |
275 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7773200 rs758749924 |
277 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1280315747 CA394057461 |
277 | N>S | No |
ClinGen TOPMed |
|
|
rs778288105 CA7773201 |
278 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394057473 rs1368299088 |
279 | L>P | No |
ClinGen gnomAD |
|
|
rs1446317644 CA394057482 |
281 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7773202 rs746601840 |
283 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394057494 rs746601840 |
283 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773203 rs757027267 |
284 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339170178 CA394057502 |
284 | N>T | No |
ClinGen TOPMed |
|
|
CA394057521 rs1172340488 |
285 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs2685127 CA7773204 VAR_048090 |
286 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394057532 rs2685127 |
286 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7773208 rs1555470816 |
288 | A>T | No |
ClinGen Ensembl |
|
|
rs749211265 CA7773210 |
288 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs201324374 CA7773212 |
289 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768369627 CA7773211 |
289 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs201324374 CA7773213 |
289 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs759614191 CA7773216 |
290 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs956040111 CA276495340 COSM1163113 |
290 | H>Y | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs201912828 CA394057582 |
291 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394057586 rs368987592 |
291 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7773219 rs368987592 |
291 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7773218 rs201912828 |
291 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs147940951 COSM110467 CA276495384 |
292 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs147940951 CA7773220 |
292 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773221 rs752037022 |
292 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs200893733 CA7773222 |
293 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394057613 rs1447634085 |
294 | L>I | No |
ClinGen gnomAD |
|
|
rs200200585 CA7773224 |
295 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1188011565 CA394057624 |
295 | A>T | No |
ClinGen gnomAD |
|
|
rs200200585 CA7773223 |
295 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA276495435 rs933047026 |
296 | G>A | No |
ClinGen TOPMed |
|
|
rs933047026 CA276495433 |
296 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7773227 rs749239561 |
296 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs768650506 CA7773228 |
300 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA394057700 rs778650775 |
301 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773229 rs778650775 |
301 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200005538 CA7773230 COSM39275 |
303 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1377045 rs771878372 CA7773231 |
303 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs776873601 CA7773232 |
304 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276495475 rs556947013 |
305 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs371259231 CA7773236 |
305 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371259231 CA7773235 |
305 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7773233 rs556947013 |
305 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs763549092 CA394057751 |
306 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763549092 CA7773237 |
306 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276495487 rs961972698 |
306 | G>W | No |
ClinGen TOPMed |
|
|
CA7773240 rs762217040 |
307 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA394057822 rs1409374785 |
308 | V>L | No |
ClinGen gnomAD |
|
|
rs201756210 CA7773269 |
309 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746819708 CA276495625 |
310 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7773273 rs367697402 |
311 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7773274 rs201173019 |
312 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394057889 rs1290745812 |
313 | V>A | No |
ClinGen gnomAD |
|
|
rs1230092987 CA394057881 |
313 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA394057893 rs1222322395 |
314 | D>N | No |
ClinGen TOPMed |
|
|
CA7773277 rs768786654 |
315 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768786654 CA7773276 |
315 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs45459806 CA394057922 |
316 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7773278 rs145351921 |
316 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA276495634 rs145351921 |
316 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs45459806 CA7773279 |
316 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1185975678 CA394057929 |
317 | A>T | No |
ClinGen gnomAD |
|
|
rs1386176626 CA394057935 COSM1581439 |
317 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA7773282 rs548225140 |
318 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 319 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410776705 CA394057949 |
319 | N>S | No |
ClinGen gnomAD |
|
|
rs1333536958 CA394057963 |
321 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1333536958 CA394057962 |
321 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs752271699 CA7773286 |
322 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7773284 rs199881504 |
322 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199881504 CA7773285 |
322 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394057973 rs763986879 |
323 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1249444700 CA394057977 |
323 | L>R | No |
ClinGen gnomAD |
|
|
rs1359895366 CA620305018 |
324 | Q>* | No |
ClinGen gnomAD |
|
|
CA7773289 rs751537258 |
324 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773290 rs756960309 |
324 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781137424 CA7773291 |
326 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs947940575 CA276495697 |
326 | F>L | No |
ClinGen Ensembl |
|
|
rs779128222 CA7773294 |
327 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749460401 CA7773292 CA7773293 |
327 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs748292003 CA7773295 |
328 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772218677 CA7773296 |
328 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs773555888 CA7773297 |
329 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA276495723 rs906326619 |
330 | A>T | No |
ClinGen gnomAD |
|
|
CA7773298 rs747556946 |
330 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200996059 CA7773299 |
331 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777039250 CA7773300 |
332 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs369218895 CA7773301 |
333 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763690369 CA7773306 |
334 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762318701 CA7773305 |
334 | P>S | No |
ClinGen ExAC |
|
|
CA7773308 rs761821338 |
335 | T>A | No |
ClinGen ExAC |
|
|
CA394058041 rs1434318867 |
335 | T>I | No |
ClinGen gnomAD |
|
|
CA394058037 rs761821338 |
335 | T>P | No |
ClinGen ExAC |
|
|
rs1596943967 CA394058044 |
336 | L>R | No |
ClinGen Ensembl |
|
|
CA7773309 rs376635129 |
337 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7773310 rs750307363 |
337 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773312 rs369804507 |
339 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs925341504 CA276495847 |
340 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs925341504 CA394058065 |
340 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs925341504 CA394058066 |
340 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7773313 rs752996989 |
340 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs758345743 CA7773314 |
341 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394058072 rs1203915428 |
341 | L>R | No |
ClinGen gnomAD |
|
|
rs1447937047 CA394058091 |
344 | T>I | No |
ClinGen gnomAD |
|
|
rs199850017 CA7773315 |
344 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs45612235 CA7773317 |
345 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394058105 rs1411354096 |
346 | K>N | No |
ClinGen gnomAD |
|
|
CA7773318 rs781506454 |
346 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746279682 CA394058114 |
347 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394058116 rs1287050015 |
348 | A>P | No |
ClinGen gnomAD |
|
|
CA394058115 rs1287050015 |
348 | A>T | No |
ClinGen gnomAD |
|
|
CA7773320 rs770165640 |
348 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762669316 CA7773322 |
350 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA394058135 rs1343215550 |
351 | D>G | No |
ClinGen gnomAD |
|
|
rs45503792 CA7773325 |
352 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs45503792 CA7773324 |
352 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs746140719 | 353 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767599249 CA7773327 |
353 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs760509474 CA394058150 |
354 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773329 rs760509474 |
354 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768062505 CA276495932 |
354 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA276495933 rs987648566 |
356 | T>A | No |
ClinGen Ensembl |
|
|
CA394058162 rs1209583037 |
356 | T>I | No |
ClinGen gnomAD |
|
|
CA7773334 rs200219634 |
357 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200219634 CA394058163 |
357 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200219634 CA7773333 |
357 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375852621 CA7773335 |
357 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781628123 CA7773336 |
358 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781628123 CA276495967 |
358 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461954224 CA394058171 |
359 | S>P | No |
ClinGen TOPMed |
|
|
rs770075649 CA7773338 |
361 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA394058191 rs770075649 |
361 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA394058193 rs1162384959 |
362 | A>T | No |
ClinGen gnomAD |
|
|
CA394058198 rs1363505419 |
362 | A>V | No |
ClinGen gnomAD |
|
|
CA394058246 rs535742977 |
365 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773699101 CA7773342 |
366 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs201555942 CA7773344 |
367 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7773346 rs760706106 |
368 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7773345 rs199529442 |
368 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776557737 CA7773348 |
369 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs764426526 CA7773350 |
370 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7773352 rs757287656 |
370 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs764426526 CA7773351 |
370 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767586577 CA7773353 |
371 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7773354 rs750870200 |
371 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA7773355 rs756668913 |
372 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394058325 rs1182920068 |
373 | K>E | No |
ClinGen gnomAD |
|
|
CA7773399 rs751287098 |
375 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773398 rs777520679 |
375 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1344011448 CA394059280 |
376 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1344011448 CA394059276 COSM970417 |
376 | L>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA7773401 rs780580369 |
378 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA394059311 rs1308480781 |
378 | S>N | No |
ClinGen TOPMed |
|
|
rs1308480781 CA394059314 |
378 | S>T | No |
ClinGen TOPMed |
|
|
rs199813441 CA7773402 |
379 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199813441 CA276496632 |
379 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199813441 CA276496630 |
379 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7773403 rs769683958 |
380 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773404 rs45529833 VAR_048091 |
382 | P>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs45529833 CA394059384 |
382 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1184799496 CA394059406 |
383 | P>A | No |
ClinGen TOPMed |
|
| rs1472796664 | 383 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA276496677 rs949137926 |
387 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA394059506 rs540057615 |
388 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs400037 CA7773409 VAR_048092 |
388 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA276496679 rs540057615 |
388 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773411 rs771034938 |
389 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394059531 rs1201344404 |
390 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA276496693 rs967990870 |
390 | V>L | No |
ClinGen Ensembl |
|
|
rs760057508 CA7773414 |
392 | T>N | No |
ClinGen ExAC |
|
|
CA276496714 rs778970931 |
393 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA394059557 rs778970931 |
393 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA394059570 rs1489629692 |
394 | V>E | No |
ClinGen TOPMed |
|
|
CA276496717 rs200448607 |
394 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7773417 rs200448607 |
394 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376852015 CA7773418 |
395 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376852015 CA394059579 |
395 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1422901769 CA394059573 |
395 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs376852015 CA394059578 |
395 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394059600 rs1268728241 |
397 | N>I | No |
ClinGen TOPMed |
|
|
CA394059623 rs1428286969 |
399 | E>K | No |
ClinGen gnomAD |
|
|
CA394059640 rs1326976693 |
400 | Q>* | No |
ClinGen TOPMed |
|
|
rs1596949074 CA394059658 |
401 | V>G | No |
ClinGen Ensembl |
|
|
CA7773420 rs375517847 |
401 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141027540 CA7773422 |
402 | A>V | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs373601500 CA7773425 |
404 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201901210 CA7773427 |
405 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201901210 CA7773426 |
405 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1321950121 CA394059724 |
406 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 407 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778740518 CA7773432 |
410 | F>C | No |
ClinGen ExAC TOPMed |
|
|
CA7773433 rs778740518 |
410 | F>S | No |
ClinGen ExAC TOPMed |
|
|
rs1567251674 CA394059790 |
411 | V>D | No |
ClinGen Ensembl |
|
|
CA394059815 rs1567251679 |
413 | F>L | No |
ClinGen Ensembl |
|
|
rs540602732 CA7773462 |
416 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs562178952 CA7773464 |
416 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7773463 rs562178952 |
416 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7773467 rs544466936 |
417 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs544466936 CA7773468 |
417 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394059900 rs1312771320 |
417 | W>L | No |
ClinGen TOPMed |
|
|
rs1325311999 CA394059894 |
417 | W>R | No |
ClinGen TOPMed |
|
|
rs1312771320 CA394059898 |
417 | W>S | No |
ClinGen TOPMed |
|
|
rs765872416 CA394059907 |
418 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs765872416 CA7773470 |
418 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs765872416 CA7773469 |
418 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA394059910 rs1446775968 |
418 | C>Y | No |
ClinGen gnomAD |
|
|
rs1302638034 CA394059927 |
419 | T>I | No |
ClinGen TOPMed |
|
|
rs752712929 CA7773473 |
420 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs765036253 CA7773472 |
420 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1279264197 CA394059989 |
424 | M>T | No |
ClinGen Ensembl |
|
|
CA394060005 rs1596949694 |
425 | A>G | No |
ClinGen Ensembl |
|
|
rs758063486 CA7773474 |
425 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777636609 CA7773475 |
426 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA394060024 rs1178492539 |
427 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7773476 rs746061835 |
428 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA394060043 rs1381417947 |
429 | E>K | No |
ClinGen gnomAD |
|
|
rs756471109 CA7773477 |
430 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA394060099 rs1567251817 |
433 | E>D | No |
ClinGen Ensembl |
|
|
rs1320799677 CA394060095 |
433 | E>G | No |
ClinGen gnomAD |
|
|
rs768874811 CA394060091 COSM163388 |
433 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7773480 rs768874811 |
433 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1596949770 TCGA novel CA394060117 |
435 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1224882810 CA394060130 |
436 | Q>* | No |
ClinGen gnomAD |
|
|
rs1567251821 CA394060142 |
436 | Q>H | No |
ClinGen Ensembl |
|
|
CA7773482 rs779246274 |
438 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773485 rs369453251 |
439 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7773484 rs772314078 |
439 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs954018375 CA276497016 |
440 | D>H | No |
ClinGen TOPMed |
|
|
CA276497027 rs986191612 |
442 | I>L | No |
ClinGen Ensembl |
|
|
rs1168383612 CA394060214 |
442 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394060221 rs1017094458 |
443 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA276497043 rs1017094458 |
443 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs770623196 CA7773488 |
444 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773487 rs760293954 |
444 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276497057 rs760293954 |
444 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776288299 CA394060241 |
445 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773490 rs776288299 |
445 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773493 rs372514598 |
447 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1419856553 CA394060273 |
448 | A>T | No |
ClinGen gnomAD |
|
|
rs763004639 CA7773494 |
449 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7773496 COSM3817937 rs763790305 |
449 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA394060299 rs1343310017 |
450 | A>T | No |
ClinGen gnomAD |
|
|
CA394060324 rs371087103 |
452 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7773502 COSM1493696 rs371087103 |
452 | E>K | kidney Variant assessed as Somatic; 4.643e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7773501 rs371087103 |
452 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA276497120 rs905325415 |
453 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA394060335 rs905325415 |
453 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754944090 CA7773503 |
454 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7773504 rs779060528 |
455 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748600407 CA7773505 |
456 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA394060378 rs777980410 |
457 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777980410 CA7773507 |
457 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773508 rs747329727 |
458 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1440054220 CA394060407 |
459 | H>R | No |
ClinGen TOPMed gnomAD |
|
| rs1567251891 | 459 | H>STMGSKEEL* | No | Ensembl | |
|
rs113159258 CA7773510 COSM1377081 |
460 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1426187039 CA394060450 |
462 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394060469 rs1393888312 |
463 | T>A | No |
ClinGen TOPMed |
|
|
CA276497207 rs763405255 |
465 | K>Q | No |
ClinGen gnomAD |
|
|
CA394060531 rs1378352443 |
466 | Y>* | No |
ClinGen gnomAD |
|
|
rs775132153 CA7773515 |
466 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1245658758 CA394060542 |
467 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs185235292 CA7773516 |
468 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA276497218 rs889813866 |
468 | P>T | No |
ClinGen TOPMed |
|
|
rs1250765063 CA394060572 |
469 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7773518 rs751560976 |
470 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs367811188 CA7773520 |
471 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367811188 CA276497232 |
471 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754052786 CA7773521 |
472 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA394060610 rs1383171204 |
472 | G>R | No |
ClinGen gnomAD |
|
|
CA7773524 rs118177911 |
473 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs116969376 CA276497279 |
473 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7773525 rs116969376 |
473 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs118177911 CA7773523 |
473 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1258102758 CA394060634 |
474 | K>* | No |
ClinGen TOPMed |
|
|
CA276497483 rs897258052 |
476 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs201317550 CA7773569 |
478 | Y>* | No |
ClinGen ESP TOPMed |
|
|
rs374859186 CA7773567 |
478 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1415571644 CA394060833 |
479 | K>E | No |
ClinGen gnomAD |
|
|
rs930107119 CA276497493 |
479 | K>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 479 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394060888 rs138762531 |
481 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762285161 CA7773571 |
481 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138762531 CA7773572 |
481 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1299021254 CA394060905 |
482 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7773575 rs45585539 |
483 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7773574 rs45585539 |
483 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7773573 rs750924414 |
483 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394060932 rs1276718054 |
484 | L>M | No |
ClinGen gnomAD |
|
|
CA7773576 rs753512209 |
484 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7773577 rs752703443 |
485 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394060954 rs1252947705 |
485 | E>K | No |
ClinGen TOPMed |
|
|
rs752703443 CA276497515 |
485 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394060984 rs1314905461 |
486 | T>A | No |
ClinGen gnomAD |
|
|
rs201830948 CA7773580 |
487 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA276497542 rs374072214 |
488 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7773581 rs374072214 |
488 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746934284 CA7773582 |
489 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746934284 CA7773583 |
489 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276497555 rs1022432757 |
492 | D>H | No |
ClinGen TOPMed |
|
|
rs768913981 CA394061099 |
493 | N>D | No |
ClinGen ExAC TOPMed |
|
|
rs768913981 CA7773587 |
493 | N>H | No |
ClinGen ExAC TOPMed |
|
|
CA276497562 rs866724530 |
494 | G>E | No |
ClinGen Ensembl |
|
|
rs200635785 CA7773590 |
494 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394061119 rs200635785 |
494 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1441909022 CA394061132 |
495 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA394061134 rs1405391445 |
495 | G>D | No |
ClinGen TOPMed |
|
|
rs1441909022 CA394061129 |
495 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1405391445 CA394061138 |
495 | G>V | No |
ClinGen TOPMed |
|
|
rs199589252 CA7773593 COSM1220063 |
496 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs766759491 CA7773597 |
498 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1422998220 CA394061173 |
498 | P>S | No |
ClinGen gnomAD |
|
|
rs370277985 CA394061182 |
499 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA276497606 rs373732401 |
499 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7773601 rs373732401 |
499 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7773599 rs370277985 |
499 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370277985 CA7773600 |
499 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1370747260 CA394061192 |
500 | E>K | No |
ClinGen TOPMed |
|
|
rs752407010 CA7773603 |
501 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs757923964 CA7773604 |
501 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs752407010 CA394061208 |
501 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7773605 VAR_048093 rs1048786 |
502 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394061223 rs1048786 |
502 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7773606 rs746052617 |
503 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276497639 rs746052617 |
503 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436709144 CA394061235 |
503 | P>T | No |
ClinGen TOPMed |
|
|
CA394061272 rs1055946099 |
505 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs745610054 CA394061274 |
505 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1055946099 CA276497682 |
505 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7773608 rs531336265 |
505 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA7773610 rs375497846 |
506 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7773611 rs774485883 |
508 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs762035501 CA7773612 |
509 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394061318 rs1179594893 |
509 | P>S | No |
ClinGen gnomAD |
|
|
CA394061314 rs1179594893 |
509 | P>T | No |
ClinGen gnomAD |
|
|
CA394061340 rs1193086412 |
510 | F>L | No |
ClinGen TOPMed |
|
|
CA7773614 rs201429930 |
511 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394061344 rs1165214211 |
511 | P>T | No |
ClinGen gnomAD |
|
|
rs199996785 CA7773644 |
512 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394062005 rs756651561 |
512 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA394062009 rs1478177137 |
513 | P>A | No |
ClinGen gnomAD |
|
|
CA276499368 rs1055874189 |
513 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs201336797 CA7773646 |
514 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201336797 CA394062027 |
514 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201336797 CA394062029 |
514 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs888298216 CA276499411 |
515 | A>G | No |
ClinGen Ensembl |
|
|
rs373626079 CA276499401 |
515 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373626079 COSM471693 CA7773649 |
515 | A>T | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1399961715 CA394062060 |
516 | N>S | No |
ClinGen gnomAD |
|
|
rs754835754 CA7773651 |
518 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs777791865 CA7773652 |
519 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394062097 rs777791865 |
519 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773653 rs747269171 |
520 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA276499466 rs999600496 |
522 | K>E | No |
ClinGen TOPMed |
|
|
CA7773658 rs770475643 |
523 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA7773657 rs770475643 |
523 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1488760378 CA394062186 |
524 | E>K | No |
ClinGen gnomAD |
|
|
CA394062202 rs763185526 |
525 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA7773663 rs773813488 |
526 | L>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7773664 rs761584267 |
526 | L>Y | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q13087
4 regional properties for Q13087
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Thioredoxin domain | 27 - 152 | IPR013766-1 |
| domain | Thioredoxin domain | 367 - 496 | IPR013766-2 |
| conserved_site | Thioredoxin, conserved site | 63 - 81 | IPR017937-1 |
| conserved_site | Thioredoxin, conserved site | 410 - 428 | IPR017937-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 5.3.4.1 | Transposing S-S bonds |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| disulfide oxidoreductase activity | Catalysis of the reaction: substrate with reduced sulfide groups = substrate with oxidized disulfide bonds. |
| protein disulfide isomerase activity | Catalysis of the rearrangement of both intrachain and interchain disulfide bonds in proteins. |
| protein-disulfide reductase activity | Catalysis of the reaction: a protein with reduced sulfide groups = a protein with oxidized disulfide bonds. |
| steroid binding | Binding to a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| protein folding | The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure. |
| protein folding in endoplasmic reticulum | A protein folding process that takes place in the endoplasmic reticulum (ER). Secreted, plasma membrane and organelle proteins are folded in the ER, assisted by chaperones and foldases (protein disulphide isomerases), and additional factors required for optimal folding (ATP, Ca2+ and an oxidizing environment to allow disulfide bond formation). |
| protein retention in ER lumen | The retention in the endoplasmic reticulum (ER) lumen of soluble resident proteins. Sorting receptors retrieve proteins with ER localization signals, such as KDEL and HDEL sequences or some transmembrane domains, that have escaped to the cis-Golgi network and return them to the ER. Abnormally folded proteins and unassembled subunits are also selectively retained in the ER. |
| response to endoplasmic reticulum stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q29RV1 | PDIA4 | Protein disulfide-isomerase A4 | Bos taurus (Bovine) | PR |
| Q8N807 | PDILT | Protein disulfide-isomerase-like protein of the testis | Homo sapiens (Human) | PR |
| Q5WA72 | PDIL1-5 | Protein disulfide isomerase-like 1-5 | Oryza sativa subsp japonica (Rice) | PR |
| Q17770 | pdi-2 | Protein disulfide-isomerase 2 | Caenorhabditis elegans | PR |
| Q66GQ3 | PDIL1-6 | Protein disulfide isomerase-like 1-6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| A3KPF5 | PDIL1-5 | Protein disulfide isomerase-like 1-5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSRQLLPVLL | LLLLRASCPW | GQEQGARSPS | EEPPEEEIPK | EDGILVLSRH | TLGLALREHP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ALLVEFYAPW | CGHCQALAPE | YSKAAAVLAA | ESMVVTLAKV | DGPAQRELAE | EFGVTEYPTL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KFFRNGNRTH | PEEYTGPRDA | EGIAEWLRRR | VGPSAMRLED | EAAAQALIGG | RDLVVIGFFQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DLQDEDVATF | LALAQDALDM | TFGLTDRPRL | FQQFGLTKDT | VVLFKKFDEG | RADFPVDEEL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GLDLGDLSRF | LVTHSMRLVT | EFNSQTSAKI | FAARILNHLL | LFVNQTLAAH | RELLAGFGEA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| APRFRGQVLF | VVVDVAADNE | HVLQYFGLKA | EAAPTLRLVN | LETTKKYAPV | DGGPVTAASI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TAFCHAVLNG | QVKPYLLSQE | IPPDWDQRPV | KTLVGKNFEQ | VAFDETKNVF | VKFYAPWCTH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CKEMAPAWEA | LAEKYQDHED | IIIAELDATA | NELDAFAVHG | FPTLKYFPAG | PGRKVIEYKS |
| 490 | 500 | 510 | 520 | ||
| TRDLETFSKF | LDNGGVLPTE | EPPEEPAAPF | PEPPANSTMG | SKEEL |