Q8J025
PR
Gene name |
APCDD1 |
Protein name |
Protein APCDD1 |
Names |
Adenomatosis polyposis coli down-regulated 1 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:147495 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8J025
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8J025-F1 | Predicted | AlphaFoldDB |
458 variants for Q8J025
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_063497 rs267606659 RCV000003311 CA116039 |
9 | L>R | Hypotrichosis 1 Hypotrichosis 1 (hypt1) HYPT1; dominant-negative mutant that perturbs the translational processing from the endoplasmic reticulum to the plasma membrane [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA8890906 COSM986492 rs767678347 |
2 | S>P | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
rs1252649710 CA401898244 |
2 | S>Y | No |
ClinGen gnomAD |
|
|
CA401898246 rs1195840155 |
3 | W>R | No |
ClinGen gnomAD |
|
|
CA8890907 rs750625563 |
4 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA295971739 rs866702634 |
5 | R>H | No |
ClinGen gnomAD |
|
|
rs866702634 CA401898263 |
5 | R>L | No |
ClinGen gnomAD |
|
|
rs867308094 CA295971743 |
6 | R>H | No |
ClinGen Ensembl |
|
|
rs761001688 CA8890908 |
7 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8890909 rs764939671 |
7 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8890910 rs752598200 |
8 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866486837 CA401898278 |
9 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs866486837 CA295971753 |
9 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8890911 rs758208673 |
10 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401898288 rs1291845110 |
11 | Y>H | No |
ClinGen TOPMed |
|
|
CA295971765 rs868768975 |
12 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs865823598 CA295971769 |
12 | L>P | No |
ClinGen Ensembl |
|
|
CA401898310 rs1352377306 |
14 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA401898311 rs1352377306 |
14 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA295971773 rs868835621 |
15 | A>D | No |
ClinGen TOPMed |
|
|
rs868835621 CA401898316 |
15 | A>V | No |
ClinGen TOPMed |
|
|
rs911034579 CA295971780 |
16 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA8890913 rs751070400 |
18 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271254480 CA401898330 |
18 | L>R | No |
ClinGen gnomAD |
|
|
CA8890933 rs750005652 |
20 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA295971792 rs865991193 |
20 | G>W | No |
ClinGen Ensembl |
|
| TCGA novel | 21 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA295976106 rs963977619 |
22 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA401898727 rs963977619 |
22 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8890935 rs779788793 |
23 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401898740 rs1287618773 |
24 | G>V | No |
ClinGen TOPMed |
|
|
rs1598396635 CA401898745 |
25 | S>C | No |
ClinGen Ensembl |
|
|
rs768987522 CA8890937 |
27 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259091121 CA401898774 |
30 | P>S | No |
ClinGen gnomAD |
|
|
rs1445997896 CA401898778 |
31 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 32 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 34 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8890938 rs138626055 |
37 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8890939 rs748654713 |
38 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA8890940 COSM180621 rs149564774 |
40 | E>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA401898855 rs1172902758 |
42 | S>G | No |
ClinGen gnomAD |
|
|
rs1382239615 CA401898867 |
43 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA401898876 rs1467545955 |
44 | W>C | No |
ClinGen gnomAD |
|
|
rs771016289 CA8890943 |
46 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 47 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs556931254 CA8890944 |
48 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401898909 rs1299346701 |
49 | E>V | No |
ClinGen gnomAD |
|
|
rs1467578864 CA401898922 |
51 | Q>R | No |
ClinGen TOPMed |
|
|
CA8890946 rs763949577 |
53 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA401898945 rs1369194050 |
54 | H>R | No |
ClinGen gnomAD |
|
|
rs375027558 CA401898950 |
55 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375027558 CA8890947 |
55 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372105770 CA8890949 |
57 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372105770 CA401898967 |
57 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1477587878 CA401898978 |
59 | L>I | No |
ClinGen TOPMed |
|
|
rs749861468 CA8890950 COSM324725 |
60 | H>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA401898986 rs1237525981 |
60 | H>Y | No |
ClinGen gnomAD |
|
|
CA8890951 rs755673638 |
61 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401899000 rs1208965826 |
62 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8890954 rs754697340 |
65 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306031498 CA401899026 |
66 | T>K | No |
ClinGen TOPMed |
|
|
CA295976156 rs1046045873 |
69 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1267834012 CA401899052 |
70 | P>A | No |
ClinGen gnomAD |
|
|
CA401899053 rs1267834012 |
70 | P>S | No |
ClinGen gnomAD |
|
|
CA401899059 rs1434770929 |
71 | P>S | No |
ClinGen gnomAD |
|
|
CA8890955 rs779237976 |
73 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA295976167 rs1056415673 |
74 | E>K | No |
ClinGen TOPMed |
|
|
CA8890956 rs748528385 |
75 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA401899098 rs1330146596 |
77 | W>* | No |
ClinGen TOPMed |
|
|
CA295976182 rs372155709 |
80 | T>P | No |
ClinGen Ensembl |
|
|
rs1412261166 CA401899167 |
85 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 86 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758781562 CA8890975 |
89 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs778044009 CA8890977 |
92 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 93 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747515881 CA8890978 |
94 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8890979 rs757770933 |
95 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781318162 CA8890980 |
99 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286624884 CA401899257 |
99 | H>Y | No |
ClinGen TOPMed |
|
|
rs1255479618 CA401899266 |
100 | N>S | No |
ClinGen gnomAD |
|
|
CA295977276 rs866722203 |
102 | T>I | No |
ClinGen Ensembl |
|
|
CA401899303 rs1182637877 |
105 | A>G | No |
ClinGen gnomAD |
|
|
CA8890981 rs371385019 |
106 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375515191 CA8890982 |
107 | Q>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401899324 rs1394778667 |
108 | F>C | No |
ClinGen TOPMed |
|
|
CA401899328 rs1170139467 |
109 | Y>H | No |
ClinGen gnomAD |
|
|
CA8890984 rs749572726 |
110 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1288937217 CA401899336 |
110 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 111 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401899352 rs1311662607 |
112 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs772950548 CA8890987 |
113 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1302943042 CA401899364 |
114 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs117044576 CA8890988 |
114 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1598397263 CA401899369 |
115 | C>G | No |
ClinGen Ensembl |
|
|
CA401899388 rs1598397266 |
117 | N>K | No |
ClinGen Ensembl |
|
|
CA8890990 rs759075518 |
118 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1598397282 CA401899394 |
119 | T>P | No |
ClinGen Ensembl |
|
|
CA8890993 rs762629902 |
122 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8890996 rs757722641 |
124 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401899434 rs186616216 |
125 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8890997 rs186616216 |
125 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM417892 CA295977306 rs916340314 |
125 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs756242200 CA401899436 |
126 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8891000 rs780321900 |
126 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756242200 CA401899435 |
126 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8890999 rs756242200 |
126 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401899438 rs780321900 |
126 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 127 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8891001 rs377223916 |
129 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1172288918 CA401899456 |
129 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8891002 rs768822914 |
130 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8891003 rs555203529 |
131 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8891004 rs370464025 |
131 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370464025 CA401899467 |
131 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401899469 rs1598397311 |
132 | Q>* | No |
ClinGen Ensembl |
|
|
rs1345777997 CA401899477 |
133 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1345777997 CA401899478 |
133 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs770865417 CA8891005 |
135 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs373747410 CA8891007 |
138 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs537794700 COSM1387759 CA8891008 |
138 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs775044078 CA8891009 |
139 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs762580615 CA8891010 |
141 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 142 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8891012 rs751883282 |
143 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8891015 rs750931054 |
144 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401899662 rs1246241359 |
148 | H>Q | No |
ClinGen TOPMed |
|
|
CA401899652 rs1212976463 |
148 | H>Y | No |
ClinGen gnomAD |
|
|
CA8891018 rs3748415 VAR_050667 |
150 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs3748415 CA401899681 |
150 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755163934 CA8891019 |
151 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401899731 rs1478607837 |
153 | I>M | No |
ClinGen gnomAD |
|
|
rs1193481992 CA401899754 |
155 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs116606798 CA295977361 |
158 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1388859867 CA401899775 |
158 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs116606798 CA8891022 |
158 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401899784 rs1598397357 |
159 | V>G | No |
ClinGen Ensembl |
|
|
CA401899779 rs1598397354 |
159 | V>M | No |
ClinGen Ensembl |
|
|
CA401899790 rs1598397361 |
160 | A>G | No |
ClinGen Ensembl |
|
|
CA8891026 rs774923279 |
161 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774923279 CA8891027 |
161 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116328641 CA8891025 |
161 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8891029 rs773854266 |
162 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs768313678 CA8891028 |
162 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1289100373 CA401899819 |
163 | L>F | No |
ClinGen gnomAD |
|
|
COSM1680229 rs1212065765 CA401899830 |
164 | G>S | large_intestine Variant assessed as Somatic; 4.662e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs767992023 CA8891031 |
165 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs773772057 CA8891032 |
166 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1598397385 CA401899886 |
167 | V>G | No |
ClinGen Ensembl |
|
|
rs1392754194 CA401899876 |
167 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs200405895 CA8891034 |
169 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA295977395 rs550080767 |
169 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA8891035 rs767000329 |
170 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM708461 rs143954637 CA8891037 |
172 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs752826847 CA8891039 |
173 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780949022 CA8891041 |
175 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8891040 rs758710972 |
175 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8891043 rs115383241 |
176 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8891042 rs115383241 COSM259464 |
176 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1343625181 CA401900003 |
176 | A>V | No |
ClinGen TOPMed |
|
|
rs149506112 CA8891045 |
177 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8891047 CA8891046 rs368134493 |
178 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401900067 rs1352465229 |
181 | W>S | No |
ClinGen gnomAD |
|
|
CA401900084 rs1598397410 |
182 | V>G | No |
ClinGen Ensembl |
|
|
rs1023294640 CA295977475 |
182 | V>M | No |
ClinGen Ensembl |
|
|
CA401900089 rs1377214042 |
183 | Q>E | No |
ClinGen TOPMed |
|
|
rs918145531 CA401900121 |
184 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA295977486 rs745500767 |
185 | V>A | No |
ClinGen Ensembl |
|
|
rs773647477 CA401900127 |
185 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773647477 CA8891050 |
185 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761157830 CA8891051 |
187 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401900159 rs1271368556 |
188 | D>N | No |
ClinGen gnomAD |
|
|
CA401900178 rs1302062638 |
189 | L>V | No |
ClinGen gnomAD |
|
|
CA8891052 rs766947286 |
191 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766947286 CA295977496 |
191 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114674646 CA8891053 |
191 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8891055 rs199591627 |
192 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs979177506 CA295977511 |
193 | E>A | No |
ClinGen Ensembl |
|
|
CA8891057 rs149668434 |
195 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401900313 rs1164710952 |
196 | C>R | No |
ClinGen gnomAD |
|
|
CA401900345 rs1441389065 |
197 | E>* | No |
ClinGen TOPMed |
|
|
rs1275859626 CA401900366 |
198 | C>R | No |
ClinGen TOPMed |
|
|
CA8891058 rs758557404 |
199 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA401900420 rs1252894554 |
200 | K>T | No |
ClinGen gnomAD |
|
|
rs755924933 CA8891061 |
202 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs956536247 CA401900488 |
203 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA401900498 rs1226348973 |
204 | F>L | No |
ClinGen TOPMed |
|
|
rs1413068557 CA401900505 |
204 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8891062 rs779865322 |
205 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8891063 rs753715344 |
206 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA295977529 rs975887566 |
206 | M>V | No |
ClinGen Ensembl |
|
|
CA295977535 rs769615162 |
207 | H>N | No |
ClinGen TOPMed |
|
|
rs1268726642 CA401900575 |
207 | H>Q | No |
ClinGen gnomAD |
|
|
rs376484896 CA8891064 |
207 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401900561 rs769615162 |
207 | H>Y | No |
ClinGen TOPMed |
|
|
rs778230094 CA8891065 |
209 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs775104994 CA8891066 |
210 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8891069 COSM437897 rs746711951 |
213 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs777594465 CA8891068 |
213 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771387300 CA8891070 |
214 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777116492 CA401900743 |
216 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471829715 CA401900790 |
220 | H>P | No |
ClinGen TOPMed |
|
|
CA8891072 rs201504676 |
220 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401900808 rs1448686079 COSM1522675 |
221 | H>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs770344284 CA8891073 |
221 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA295977590 rs889016458 |
224 | D>E | No |
ClinGen TOPMed |
|
|
CA401900843 rs763049478 |
224 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8891075 rs763049478 |
224 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8891076 rs764251642 |
226 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA401900880 rs1416374905 |
227 | V>A | No |
ClinGen gnomAD |
|
|
CA401900883 rs1364886727 |
228 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA401900900 rs1207639973 |
229 | E>D | No |
ClinGen Ensembl |
|
|
CA401900893 rs1436346744 COSM159120 |
229 | E>Q | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1191340876 CA401900903 |
230 | L>F | No |
ClinGen gnomAD |
|
|
CA295977612 rs1007379968 |
233 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1233170921 CA401900921 |
233 | G>S | No |
ClinGen gnomAD |
|
|
CA8891078 rs751758151 |
234 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1201784340 CA401900934 |
235 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762091049 CA8891079 |
237 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8891081 rs139232963 |
238 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1188924292 CA401900957 |
238 | D>G | No |
ClinGen gnomAD |
|
|
rs368209332 CA8891080 |
238 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1598397505 CA401900959 |
239 | A>T | No |
ClinGen Ensembl |
|
|
rs1036419184 CA295977628 |
240 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs754806469 CA8891082 |
240 | T>S | No |
ClinGen ExAC |
|
|
rs1568004511 CA401900981 |
242 | R>M | No |
ClinGen Ensembl |
|
|
CA401900990 rs1389411304 |
243 | M>I | No |
ClinGen TOPMed |
|
|
CA401900994 rs1378276785 |
244 | F>L | No |
ClinGen gnomAD |
|
|
CA295977641 rs897890762 |
245 | Y>C | No |
ClinGen Ensembl |
|
|
rs748706455 CA8891087 |
246 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748706455 CA8891086 |
246 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752102915 CA8891085 |
246 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1057289531 CA295977646 |
247 | P>S | No |
ClinGen TOPMed |
|
|
rs372282253 CA295977653 |
250 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8891091 rs549800578 |
252 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386701066 CA401901046 |
252 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs549800578 CA295977665 |
252 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549800578 CA8891090 |
252 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401903100 rs1598401079 |
259 | N>T | No |
ClinGen Ensembl |
|
|
rs958631444 CA295985196 |
259 | N>Y | No |
ClinGen TOPMed |
|
|
rs991795534 CA295985198 |
260 | H>D | No |
ClinGen TOPMed |
|
|
CA401903112 rs991795534 |
260 | H>Y | No |
ClinGen TOPMed |
|
|
rs766984901 CA8891126 |
261 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401903147 rs144035486 |
262 | H>P | No |
ClinGen ESP |
|
|
rs144035486 CA295985232 |
262 | H>R | No |
ClinGen ESP |
|
|
CA295985247 rs936156933 |
263 | A>S | No |
ClinGen Ensembl |
|
|
CA401903169 rs1278735544 |
264 | C>R | No |
ClinGen TOPMed |
|
|
rs146444390 CA8891129 |
265 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401903201 rs528698632 |
266 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528698632 CA8891130 |
266 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755440394 CA8891131 |
268 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779421245 CA8891132 |
268 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401903225 rs755440394 |
268 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401903242 rs1249043935 |
269 | I>T | No |
ClinGen gnomAD |
|
|
CA8891134 rs772163651 |
270 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8891135 rs547035524 |
271 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8891138 rs374914282 |
272 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8891137 rs771067572 |
272 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8891139 rs762869079 |
273 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA401903288 rs1455319210 |
273 | S>P | No |
ClinGen gnomAD |
|
|
rs369608898 CA8891141 |
274 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA295985325 rs539268005 |
275 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs539268005 CA295985324 |
275 | E>Q | No |
ClinGen Ensembl |
|
|
CA8891143 rs529396289 |
276 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1598401118 CA401903342 |
277 | H>P | No |
ClinGen Ensembl |
|
|
rs1366974359 CA401903360 |
278 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA401903359 rs1366974359 |
278 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 283 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8891145 rs760308864 |
286 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 286 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1327262874 CA401903447 |
286 | D>H | No |
ClinGen gnomAD |
|
|
rs143107759 CA8891146 |
288 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8891147 rs114821361 |
289 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8891149 rs779292945 |
290 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA401903510 rs1191200272 |
291 | L>P | No |
ClinGen gnomAD |
|
|
rs747061093 CA8891153 |
293 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs150205350 CA8891152 |
293 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1015058758 CA295985393 |
298 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA401903615 rs1321371395 |
299 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8891154 rs201834801 COSM3422048 |
299 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA401903644 rs1346031728 |
301 | E>* | No |
ClinGen TOPMed |
|
|
CA401903656 rs537305657 |
302 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8891155 rs537305657 |
302 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746141096 CA8891156 |
303 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs374082304 CA8891157 COSM294123 |
303 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1002886635 CA295985419 |
304 | P>R | No |
ClinGen TOPMed |
|
|
rs771909445 CA8891160 COSM986495 |
305 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs760127834 CA8891162 |
306 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8891163 rs765925626 |
308 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA8891164 rs753461711 |
309 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8891165 rs199818137 |
310 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs753012867 CA8891167 |
311 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758870123 CA8891168 COSM986496 |
311 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs200699860 CA8891169 |
314 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8891172 rs751607212 |
318 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA295985466 rs201140329 |
320 | N>T | No |
ClinGen Ensembl |
|
|
CA8891174 rs746083484 |
321 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401903912 rs1598401158 |
321 | T>P | No |
ClinGen Ensembl |
|
|
CA401903915 rs746083484 |
321 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202029243 CA295985475 |
326 | Y>C | No |
ClinGen Ensembl |
|
|
CA401904062 rs1165437057 |
328 | H>Q | No |
ClinGen gnomAD |
|
|
CA401904119 rs770199513 |
331 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 331 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8891176 rs778702888 |
332 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773003449 CA8891179 |
333 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760649364 CA8891180 |
336 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1297201329 CA401904226 |
337 | P>H | No |
ClinGen TOPMed |
|
|
rs1433152917 CA401904231 |
338 | T>A | No |
ClinGen TOPMed |
|
|
CA295985505 rs377753592 |
339 | F>L | No |
ClinGen ESP |
|
|
CA401904281 rs1373732770 |
340 | S>C | No |
ClinGen TOPMed |
|
|
rs770426956 CA8891182 |
341 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA401904295 rs1483281259 |
341 | I>V | No |
ClinGen Ensembl |
|
|
CA401904318 rs1598401172 |
342 | Y>S | No |
ClinGen Ensembl |
|
|
rs201920747 CA8891184 |
343 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754691351 CA8891187 |
344 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754691351 CA8891188 |
344 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8891186 rs143146906 |
344 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA295985533 rs1051328818 |
346 | R>C | No |
ClinGen gnomAD |
|
|
CA8891189 rs147066092 |
346 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8891190 rs147066092 |
346 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA295985535 rs1048018886 |
347 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA401904401 rs1048018886 |
347 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8891192 rs750536212 |
349 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8891193 rs200939423 COSM2883182 |
349 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs758100126 CA8891196 |
350 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs376017098 CA8891195 |
350 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs116815061 CA8891198 COSM1387763 |
351 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs372013882 CA8891199 |
353 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745410053 CA8891201 |
354 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1226186802 CA401904535 |
354 | S>P | No |
ClinGen TOPMed |
|
|
rs1340908931 CA401904583 |
356 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1270263327 CA401904580 |
356 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA401904613 rs1013336509 |
358 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8891204 rs200208802 |
358 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA295985669 rs1013336509 |
358 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1205257975 CA401904622 |
359 | G>S | No |
ClinGen gnomAD |
|
|
rs201970588 CA8891207 |
361 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs750483072 CA8891209 |
363 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401904696 rs1477110056 |
364 | F>L | No |
ClinGen gnomAD |
|
|
CA401904702 rs1598401202 |
364 | F>S | No |
ClinGen Ensembl |
|
|
rs765531330 CA8891231 |
366 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs958343302 CA295987013 |
367 | N>Y | No |
ClinGen Ensembl |
|
|
rs751310085 CA8891232 |
369 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA401905624 rs1568008968 |
371 | V>F | No |
ClinGen Ensembl |
|
|
rs1598401567 CA401905645 |
372 | T>P | No |
ClinGen Ensembl |
|
|
rs374248487 CA8891234 |
373 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401905665 rs1328073575 |
373 | P>S | No |
ClinGen gnomAD |
|
|
rs148807402 CA8891235 |
376 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401905774 rs1209229637 |
378 | T>A | No |
ClinGen gnomAD |
|
|
CA8891237 rs779375002 |
378 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401905801 rs1180132262 |
379 | A>T | No |
ClinGen gnomAD |
|
|
rs768144488 CA8891239 |
383 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1367145926 CA401905932 |
384 | V>A | No |
ClinGen gnomAD |
|
|
rs1365634597 CA401905984 |
386 | N>S | No |
ClinGen gnomAD |
|
|
rs375861639 CA8891241 |
387 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8891243 rs773767949 |
389 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA401906065 rs150728546 |
390 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401906057 rs1238572285 |
390 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1238572285 CA401906053 |
390 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8891245 rs771470436 |
391 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1243941796 CA401906080 |
392 | A>S | No |
ClinGen gnomAD |
|
|
rs1361536724 CA401906094 COSM1303573 |
393 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1361536724 CA401906089 |
393 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1203025655 CA401906120 |
394 | G>D | No |
ClinGen gnomAD |
|
|
CA8891247 rs759687921 |
395 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA401906198 rs1598401592 |
398 | V>G | No |
ClinGen Ensembl |
|
|
rs752888866 CA8891249 |
399 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA401906228 rs1241194560 |
400 | I>T | No |
ClinGen TOPMed |
|
|
CA8891250 rs368882967 |
403 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372175332 CA8891251 |
404 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401906305 rs1210580959 |
405 | T>N | No |
ClinGen TOPMed |
|
|
rs755938219 CA8891253 |
408 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8891254 rs780062599 |
410 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs754478741 CA401906399 |
411 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754478741 CA8891256 |
411 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598401618 CA401906442 |
413 | L>P | No |
ClinGen Ensembl |
|
|
rs778631558 CA8891257 |
414 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs143975400 CA8891258 |
415 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771861487 CA8891259 |
416 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA8891260 rs778212807 |
416 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1245612452 CA401906541 |
419 | H>R | No |
ClinGen TOPMed |
|
|
CA401906557 rs114154601 |
420 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114154601 CA8891262 |
420 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139844939 CA8891264 |
421 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1318102780 CA401906572 |
421 | E>K | No |
ClinGen TOPMed |
|
|
CA8891265 rs139844939 |
421 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8891267 rs763105125 |
423 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA401906633 rs1483066324 |
424 | I>F | No |
ClinGen gnomAD |
|
|
rs377642958 CA8891268 |
426 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8891269 rs772842810 |
427 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1245371026 CA401906696 |
427 | M>T | No |
ClinGen gnomAD |
|
|
rs766126994 CA8891271 |
431 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8891274 rs562518496 |
432 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8891273 rs116143459 |
432 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758081145 COSM180629 CA8891276 |
434 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs374253239 CA8891277 |
434 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401906761 rs1408109974 |
435 | Y>S | No |
ClinGen gnomAD |
|
|
rs376074678 CA401906792 |
440 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376074678 CA8891278 |
440 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1362599843 CA401906801 |
441 | Q>R | No |
ClinGen gnomAD |
|
|
CA295987286 rs892064810 |
443 | P>A | No |
ClinGen TOPMed |
|
|
rs1464971350 CA401906822 |
444 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs200082076 CA8891280 |
444 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1299291263 CA401906817 |
444 | S>R | No |
ClinGen gnomAD |
|
|
CA401906821 rs1464971350 |
444 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1224417735 CA401906824 |
445 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA401906835 rs749401498 |
446 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8891284 rs749401498 |
446 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775482025 CA8891283 |
446 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401906840 rs1243154650 |
447 | S>C | No |
ClinGen gnomAD |
|
|
rs1487137230 CA401906844 |
448 | S>G | No |
ClinGen gnomAD |
|
|
CA401906848 rs1187699593 |
448 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1346008761 CA401906861 |
450 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 451 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1169959735 CA401906883 |
453 | E>D | No |
ClinGen TOPMed |
|
|
CA8891287 rs368201557 |
454 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766181159 CA8891288 |
454 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776301011 CA8891289 |
455 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598401673 COSM986500 CA401906894 |
455 | R>I | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs527431894 CA8891290 |
457 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401906909 rs1222539514 COSM1387765 |
458 | S>P | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs752200924 CA8891292 |
460 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1012530675 CA295987416 |
460 | Q>H | No |
ClinGen Ensembl |
|
|
rs1327374965 CA401906972 |
467 | A>T | No |
ClinGen gnomAD |
|
|
rs148910277 CA8891294 |
470 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401907000 rs1220087910 |
471 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8891298 rs746237007 |
475 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1176354716 CA401907035 |
477 | A>T | No |
ClinGen gnomAD |
|
|
rs780560914 CA8891300 |
479 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA295987468 rs141566079 |
480 | S>N | No |
ClinGen ESP gnomAD |
|
|
CA401907056 rs1275844467 |
480 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 483 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8891301 rs749833937 |
483 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768717719 CA8891302 |
484 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8891303 rs778916803 |
485 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA401907098 rs1568009178 |
486 | G>D | No |
ClinGen Ensembl |
|
|
rs112875590 CA8891306 |
487 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8891305 rs772185582 |
487 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401907108 rs147023587 |
488 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8891307 rs147023587 |
488 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1360830042 CA401907111 |
489 | P>S | No |
ClinGen gnomAD |
|
|
rs1222498914 CA401907116 CA401907115 |
490 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 491 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425551599 CA401907131 |
492 | H>P | No |
ClinGen TOPMed |
|
|
CA401907137 rs1598401716 |
493 | T>A | No |
ClinGen Ensembl |
|
|
rs954066000 CA295987501 |
494 | W>S | No |
ClinGen Ensembl |
|
|
rs138401718 CA8891308 |
495 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138401718 CA8891309 |
495 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1457928463 CA401907165 |
498 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8891312 rs751047442 |
501 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761463581 CA8891313 |
502 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs60421789 CA295987551 |
503 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1384494826 CA401907204 |
505 | V>I | No |
ClinGen gnomAD |
|
|
CA8891315 rs539204728 |
506 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1431985458 CA401907229 |
509 | H>R | No |
ClinGen gnomAD |
|
|
CA401907245 rs1368862296 |
511 | N>I | No |
ClinGen gnomAD |
|
|
CA8891318 rs754328837 |
513 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755453042 CA8891319 COSM1183200 |
513 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA401907257 rs754328837 |
513 | R>S | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q8J025
Without disease ID
1 regional properties for Q8J025
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPCR, rhodopsin-like, 7TM | 71 - 364 | IPR017452 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| Wnt-protein binding | Binding to a Wnt-protein, a secreted growth factor involved in signaling. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| astrocyte cell migration | The orderly movement of an astrocyte, a class of large neuroglial (macroglial) cells in the central nervous system, the largest and most numerous neuroglial cells in the brain and spinal cord. |
| hair follicle development | The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open. |
| negative regulation of Wnt signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the Wnt signaling pathway. |
| regulation of odontogenesis of dentin-containing tooth | Any process that modulates the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates. |
| Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3U128 | Apcdd1 | Protein APCDD1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSWPRRLLLR | YLFPALLLHG | LGEGSALLHP | DSRSHPRSLE | KSAWRAFKES | QCHHMLKHLH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NGARITVQMP | PTIEGHWVST | GCEVRSGPEF | ITRSYRFYHN | NTFKAYQFYY | GSNRCTNPTY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TLIIRGKIRL | RQASWIIRGG | TEADYQLHNV | QVICHTEAVA | EKLGQQVNRT | CPGFLADGGP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| WVQDVAYDLW | REENGCECTK | AVNFAMHELQ | LIRVEKQYLH | HNLDHLVEEL | FLGDIHTDAT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QRMFYRPSSY | QPPLQNAKNH | DHACIACRII | YRSDEHHPPI | LPPKADLTIG | LHGEWVSQRC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EVRPEVLFLT | RHFIFHDNNN | TWEGHYYHYS | DPVCKHPTFS | IYARGRYSRG | VLSSRVMGGT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EFVFKVNHMK | VTPMDAATAS | LLNVFNGNEC | GAEGSWQVGI | QQDVTHTNGC | VALGIKLPHT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EYEIFKMEQD | ARGRYLLFNG | QRPSDGSSPD | RPEKRATSYQ | MPLVQCASSS | PRAEDLAEDS |
| 490 | 500 | 510 | |||
| GSSLYGRAPG | RHTWSLLLAA | LACLVPLLHW | NIRR |