Q5TGP6
PR
Gene name |
MROH9 (C1orf129) |
Protein name |
Maestro heat-like repeat-containing protein family member 9 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:80133 |
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 Q5TGP6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5TGP6-F1 | Predicted | AlphaFoldDB |
516 variants for Q5TGP6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA343165611 rs1336853008 |
5 | N>S | No |
ClinGen gnomAD |
|
|
CA1239655 rs771873227 |
7 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA32509601 rs1017485994 |
9 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 10 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343165669 rs1418377019 |
12 | L>P | No |
ClinGen TOPMed |
|
|
CA1239675 rs746807792 |
12 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1239676 rs770851256 |
13 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA1239677 rs781083915 |
14 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs745845147 CA343165687 |
15 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs745845147 CA1239678 |
15 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1239679 rs769858971 |
17 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs775606411 CA1239680 |
18 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs541742485 CA1239681 |
21 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768767748 CA1239682 |
22 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343165733 rs768767748 |
22 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343165745 rs1394075571 |
23 | H>Q | No |
ClinGen gnomAD |
|
|
CA343165741 rs1352795069 |
23 | H>Y | No |
ClinGen gnomAD |
|
|
CA343165753 rs1157479446 |
24 | M>I | No |
ClinGen TOPMed |
|
|
rs1402687926 CA343165770 |
25 | A>T | No |
ClinGen gnomAD |
|
|
CA343165779 rs1235467989 |
26 | H>R | No |
ClinGen gnomAD |
|
|
CA1239726 rs756960807 |
26 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1571449823 CA343165791 |
28 | V>I | No |
ClinGen Ensembl |
|
|
rs17563089 CA1239727 VAR_031903 |
29 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA343165811 rs1317787709 |
30 | S>R | No |
ClinGen gnomAD |
|
|
CA1239728 rs200880511 |
31 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487741127 CA343165831 |
34 | A>T | No |
ClinGen gnomAD |
|
|
CA32516431 rs772752567 |
35 | Y>C | No |
ClinGen Ensembl |
|
|
rs749298866 CA1239731 |
35 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1571449863 CA343165844 |
36 | S>P | No |
ClinGen Ensembl |
|
|
rs901345675 CA32516446 |
40 | S>G | No |
ClinGen Ensembl |
|
|
CA1239734 rs748309842 |
42 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251076789 CA343165897 |
44 | M>L | No |
ClinGen TOPMed |
|
|
CA32516505 rs762652907 |
44 | M>T | No |
ClinGen gnomAD |
|
|
CA1239736 rs772424371 |
48 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1487490727 CA343165935 |
50 | S>P | No |
ClinGen TOPMed |
|
|
rs746302834 CA343165959 |
51 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368849976 CA32517630 |
52 | F>V | No |
ClinGen TOPMed |
|
|
CA1239763 rs770338421 |
54 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs202034623 CA1239764 |
55 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs202034623 CA32517667 |
55 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1239765 rs761336475 |
58 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs200359607 CA1239766 |
58 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772823483 CA1239767 |
61 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1557874122 CA343166044 |
64 | K>N | No |
ClinGen Ensembl |
|
|
CA343166046 rs1489618381 |
65 | I>L | No |
ClinGen TOPMed |
|
|
CA32517706 rs887116377 |
65 | I>M | No |
ClinGen Ensembl |
|
|
rs371930245 CA1239771 |
65 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1489618381 CA343166047 |
65 | I>V | No |
ClinGen TOPMed |
|
|
rs376607039 CA1239772 |
66 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1239774 rs201425392 |
68 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1239773 rs201425392 |
68 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343166073 rs1312114867 |
69 | S>F | No |
ClinGen TOPMed |
|
|
CA1239775 rs758519222 |
69 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1368186300 CA343166085 |
71 | G>E | No |
ClinGen TOPMed |
|
|
rs1420562088 CA343166084 |
71 | G>R | No |
ClinGen gnomAD |
|
|
CA32517735 rs754778254 |
72 | M>I | No |
ClinGen gnomAD |
|
|
rs1302107868 CA343166092 |
72 | M>T | No |
ClinGen TOPMed |
|
|
rs1441152913 CA343166098 |
73 | L>Q | No |
ClinGen TOPMed |
|
|
rs2294740 VAR_031904 CA1239777 |
74 | V>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA343166111 rs1345669080 |
75 | V>D | No |
ClinGen TOPMed |
|
|
rs1452788913 CA343166108 |
75 | V>F | No |
ClinGen TOPMed |
|
|
CA1239780 rs746275403 |
76 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs781345523 CA1239779 |
76 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 77 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1239781 rs770151852 |
79 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 80 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343166146 rs1275893595 |
81 | K>Q | No |
ClinGen gnomAD |
|
|
CA1239783 rs749837627 |
81 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA343166158 rs1210696012 |
82 | V>G | No |
ClinGen gnomAD |
|
|
CA1239784 rs771569532 |
84 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772770574 CA1239785 |
85 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1239786 rs760191310 |
86 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA343166183 rs1177724021 |
86 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 87 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1023103921 CA32517813 |
87 | S>I | No |
ClinGen Ensembl |
|
|
rs776235836 CA32517842 |
87 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs759350541 CA1239789 |
89 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA32517848 rs748040552 |
93 | E>K | No |
ClinGen gnomAD |
|
|
CA343166231 rs748040552 |
93 | E>Q | No |
ClinGen gnomAD |
|
|
rs200545185 CA1239790 |
94 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA343166241 rs1408877878 |
94 | D>V | No |
ClinGen gnomAD |
|
|
rs376421981 CA32517881 |
95 | M>I | No |
ClinGen ESP gnomAD |
|
|
CA1239792 rs763040210 |
96 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA32519604 rs930881641 |
98 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1239810 rs762926274 |
99 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343166298 rs1199938073 |
100 | H>Q | No |
ClinGen gnomAD |
|
|
CA1239811 rs764149882 |
100 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA343166300 rs1271127827 |
101 | N>H | No |
ClinGen gnomAD |
|
|
rs774532387 CA1239812 |
101 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 102 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1239813 rs761921293 |
105 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767541054 CA1239814 |
106 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1161512414 CA343166342 |
107 | E>K | No |
ClinGen TOPMed |
|
|
CA1239815 rs750641886 |
108 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1323208880 CA343166357 |
109 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA343166365 rs375612128 |
110 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 110 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242872401 CA343166368 |
110 | L>P | No |
ClinGen Ensembl |
|
|
rs375612128 CA32519666 |
110 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343166370 rs1304642727 |
111 | T>A | No |
ClinGen gnomAD |
|
|
rs766660390 CA343166372 |
111 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1146039 CA1239817 rs766660390 COSM677205 |
111 | T>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs766660390 CA343166373 |
111 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343166379 rs1213780420 |
112 | S>I | No |
ClinGen TOPMed |
|
| TCGA novel | 115 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343166407 rs1487659961 |
116 | K>N | No |
ClinGen TOPMed |
|
|
CA343166411 rs1278304577 |
117 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 119 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755442518 CA1239819 |
119 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA1239820 rs779364712 |
120 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs748655380 CA1239821 |
123 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1245668477 CA343166460 |
124 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA343166463 rs1294276333 |
125 | K>Q | No |
ClinGen gnomAD |
|
|
CA1239841 rs202063984 |
126 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1239842 rs370761403 |
127 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA343166498 rs1438691730 |
128 | L>I | No |
ClinGen gnomAD |
|
|
rs749924673 CA1239845 |
129 | V>A | No |
ClinGen ExAC gnomAD |
|
|
COSM3700534 COSM3700535 CA1239844 rs199713511 |
129 | V>M | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs200830573 CA1239846 |
132 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200830573 CA343166529 |
132 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779820999 CA1239847 |
133 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs748997038 CA1239848 |
134 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1239850 rs564909700 |
134 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748997038 CA1239849 |
134 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158398652 CA343166542 |
134 | D>Y | No |
ClinGen TOPMed |
|
|
CA343166551 rs1196939303 |
135 | S>R | No |
ClinGen TOPMed |
|
|
rs1571456647 CA343166558 |
136 | S>L | No |
ClinGen Ensembl |
|
|
rs532124329 CA1239853 |
140 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1239851 rs748049128 |
140 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463857381 COSM530582 CA343166586 COSM1138772 |
141 | R>G | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1308038072 CA343166589 |
141 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA343166596 rs1318777504 |
142 | I>K | No |
ClinGen gnomAD |
|
|
CA343166599 rs1231101207 |
142 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 144 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs998172905 CA32522877 |
145 | I>M | No |
ClinGen Ensembl |
|
|
CA343166618 rs1255502881 |
145 | I>N | No |
ClinGen gnomAD |
|
|
rs1268033975 CA343166629 |
147 | N>D | No |
ClinGen TOPMed |
|
|
CA343166640 rs1209966778 |
148 | K>M | No |
ClinGen TOPMed |
|
|
rs1206198594 CA343166646 |
149 | V>L | No |
ClinGen gnomAD |
|
|
CA343166661 rs1256549980 |
151 | R>K | No |
ClinGen gnomAD |
|
|
rs776824183 CA343166667 |
152 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA1239855 rs771052320 |
152 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1239856 rs776824183 |
152 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA32522901 rs377679030 |
153 | T>A | No |
ClinGen Ensembl |
|
|
CA343166674 rs1431114249 |
153 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs759823758 CA1239857 |
154 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 154 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 154 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1301591893 CA343166687 |
156 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 156 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763469621 CA1239861 |
160 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_031905 CA1239859 rs16863872 |
160 | Y>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1260957345 COSM3802819 COSM3802820 CA343166738 |
161 | I>M | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1298177082 CA343166744 |
162 | S>I | No |
ClinGen gnomAD |
|
|
CA343166742 rs1298177082 COSM1134768 COSM463408 |
162 | S>N | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA32527750 rs996362892 |
163 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1239884 rs754606899 |
163 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA343166754 rs1490747323 |
164 | D>G | No |
ClinGen gnomAD |
|
|
rs764824864 CA1239885 |
164 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA343166766 rs1213761762 |
166 | P>A | No |
ClinGen gnomAD |
|
|
rs752447106 CA1239886 |
166 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1486151525 CA343166790 |
169 | G>V | No |
ClinGen gnomAD |
|
|
CA343166805 rs1411332112 |
172 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1411332112 CA343166807 |
172 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1164015612 CA343166811 |
173 | A>E | No |
ClinGen gnomAD |
|
|
CA32527826 CA1239892 rs200205764 |
174 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1239890 COSM1146040 rs746884765 COSM677204 |
174 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1239893 rs565518526 |
175 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769957783 CA1239894 |
177 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1239896 rs368219054 |
179 | C>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1239897 rs749581793 |
180 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182601623 CA343166855 |
181 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA343166864 rs1316198363 |
182 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA343166875 rs1237597834 |
183 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 183 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361070533 CA343166874 |
183 | D>V | No |
ClinGen gnomAD |
|
|
CA1239899 rs200626752 |
184 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762349781 COSM677203 CA1239900 COSM1146041 |
185 | S>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1388960487 CA343166883 |
185 | S>P | No |
ClinGen TOPMed |
|
|
rs776238037 CA1239902 |
186 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343166902 rs1557879359 |
188 | K>T | No |
ClinGen Ensembl |
|
|
rs1384865677 CA343166909 |
189 | Q>* | No |
ClinGen gnomAD |
|
|
CA343166910 rs1183914845 |
189 | Q>P | No |
ClinGen gnomAD |
|
|
CA1239904 rs767521963 |
190 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1239908 rs574920936 |
192 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752291338 CA1239906 |
192 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1239909 rs757148581 |
193 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1212699586 CA343166933 |
193 | G>R | No |
ClinGen TOPMed |
|
|
rs745868230 CA1239911 |
194 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA32527927 rs927752622 |
194 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs781076056 CA1239910 |
194 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1400685639 CA343166945 |
195 | C>Y | No |
ClinGen gnomAD |
|
|
CA343166950 rs1337797102 |
196 | H>N | No |
ClinGen gnomAD |
|
|
CA343166954 rs1230710260 |
196 | H>R | No |
ClinGen TOPMed |
|
|
rs756133029 CA1239912 |
199 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32527929 rs956652651 |
200 | I>T | No |
ClinGen TOPMed |
|
|
COSM324869 CA343166986 rs1557879414 |
201 | A>E | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA343166983 rs1449171883 |
201 | A>T | No |
ClinGen TOPMed |
|
|
rs377212983 CA1239917 |
202 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343166990 rs199913150 |
202 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199913150 CA343166989 |
202 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1239918 rs199913150 |
202 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1239915 COSM1242051 rs377212983 COSM1242052 |
202 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs773845863 CA1239919 |
203 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA343166999 rs1311471169 |
204 | Q>* | No |
ClinGen gnomAD |
|
| rs199761702 | 205 | N>= | Variant assessed as Somatic; 0.0001394 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199761702 CA1239921 |
205 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775083114 CA1239923 |
206 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767232814 CA1239947 |
206 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs775083114 CA1239922 |
206 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1239948 rs371155414 |
207 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 208 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA32505086 rs373670994 |
210 | N>K | No |
ClinGen ESP TOPMed |
|
|
CA343167069 rs1411280009 |
213 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766369095 CA1239950 |
213 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA343167081 rs1404985460 |
215 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs898993551 CA32505123 |
217 | S>I | No |
ClinGen TOPMed |
|
|
rs779204268 CA1239954 |
218 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA343167105 rs752904080 |
218 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA343167103 rs779204268 |
218 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA1239955 rs752904080 |
218 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA343167114 rs1341273296 |
219 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 220 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1239956 rs758710250 |
221 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343167126 rs1216517967 |
221 | Q>R | No |
ClinGen gnomAD |
|
|
CA1239958 rs1553213796 |
223 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 224 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs536309064 CA343167158 |
226 | D>G | No |
ClinGen TOPMed |
|
|
CA32505158 rs536309064 |
226 | D>V | No |
ClinGen TOPMed |
|
|
rs201549824 CA1239960 |
227 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201549824 CA1239961 |
227 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1239962 rs199994744 |
228 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343167183 rs1256801043 |
230 | L>P | No |
ClinGen TOPMed |
|
|
CA1239963 rs746433019 |
231 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1487594080 CA343167185 |
231 | P>S | No |
ClinGen gnomAD |
|
|
rs970125039 CA32505189 |
232 | K>E | No |
ClinGen TOPMed |
|
|
rs970125039 CA343167190 |
232 | K>Q | No |
ClinGen TOPMed |
|
|
rs1003932493 CA32505194 |
233 | E>A | No |
ClinGen Ensembl |
|
| TCGA novel | 235 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773855378 CA1239965 |
235 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1415388533 CA343167224 |
236 | Q>H | No |
ClinGen gnomAD |
|
|
CA1239966 rs112394419 |
236 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1239967 rs377151868 |
237 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1384166215 CA343167228 |
237 | D>Y | No |
ClinGen gnomAD |
|
|
CA1239970 rs766133020 |
238 | E>G | No |
ClinGen ExAC |
|
|
rs561437742 CA1239969 |
238 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32505264 rs988218807 |
239 | S>I | No |
ClinGen gnomAD |
|
|
CA1239971 rs776614693 |
240 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318940931 CA343167257 |
241 | I>T | No |
ClinGen gnomAD |
|
|
rs759554597 CA1239972 |
243 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437255978 CA343167285 |
244 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs757424982 CA1239995 |
245 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs757424982 CA32507351 |
245 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1239994 rs751803477 |
245 | V>L | No |
ClinGen ExAC |
|
|
rs1314340418 CA343167311 |
248 | T>I | No |
ClinGen Ensembl |
|
|
rs756572670 CA1239998 |
250 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA343167324 rs756572670 |
250 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA343167329 rs1156627065 |
251 | P>L | No |
ClinGen TOPMed |
|
|
CA1239999 rs780505324 |
251 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA32507364 rs963732439 |
254 | L>Q | No |
ClinGen TOPMed |
|
|
rs1161202014 CA343167376 |
259 | Q>* | No |
ClinGen TOPMed |
|
|
CA343167383 rs1175673673 |
260 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1406508259 CA343167391 |
261 | L>I | No |
ClinGen gnomAD |
|
|
CA343167417 rs1571478137 |
264 | K>N | No |
ClinGen Ensembl |
|
|
rs565238702 CA32507403 |
267 | S>* | No |
ClinGen Ensembl |
|
|
rs781098754 CA1240005 |
268 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222197545 CA343167442 |
269 | D>H | No |
ClinGen gnomAD |
|
|
rs745631600 CA1240006 |
270 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 271 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769761254 CA1240007 |
272 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564495423 CA32507442 |
273 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA343167478 rs774306264 |
274 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1240011 rs774306264 |
274 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 276 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762044130 CA1240012 |
278 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA32507459 rs972361435 |
279 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 282 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs541801511 CA32507470 |
283 | T>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs754335398 COSM1472981 CA343167572 COSM424575 |
289 | E>* | breast [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA1240018 rs755457248 |
289 | E>A | No |
ClinGen ExAC |
|
|
rs754335398 CA1240017 |
289 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 290 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1240020 rs751066028 |
291 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403128000 CA343167601 |
293 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1240021 rs756836360 |
293 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343167597 rs1299010037 |
293 | M>V | No |
ClinGen gnomAD |
|
|
CA1240034 rs766660433 |
294 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 296 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1240036 rs760051072 |
296 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs765634568 CA1240037 |
298 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1240038 rs753299518 |
299 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213518074 CA343167659 |
300 | A>V | No |
ClinGen gnomAD |
|
|
rs756708951 CA1240039 |
304 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA1240041 rs751120860 |
306 | C>* | No |
ClinGen ExAC |
|
|
CA343167706 rs1486160640 |
307 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1240042 rs780916786 |
310 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343167726 rs1320478031 |
310 | C>S | No |
ClinGen TOPMed |
|
|
CA343167729 rs780916786 |
310 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371280477 CA32509875 |
311 | M>L | No |
ClinGen Ensembl |
|
|
CA343167736 rs1281328041 |
311 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1241111365 CA343167761 |
314 | V>A | No |
ClinGen gnomAD |
|
|
CA1240045 rs115940585 CA343167784 |
317 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1240044 rs755845428 |
317 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1407110365 CA343167787 |
318 | V>F | No |
ClinGen gnomAD |
|
|
CA343167800 rs1157046194 |
320 | T>S | No |
ClinGen gnomAD |
|
|
rs1345060339 CA343167810 |
321 | L>F | No |
ClinGen gnomAD |
|
|
CA1240047 rs374949615 |
323 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1240049 rs748171829 |
326 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32509907 rs905949585 |
327 | P>S | No |
ClinGen TOPMed |
|
|
CA343167866 rs1384586178 |
330 | V>D | No |
ClinGen gnomAD |
|
|
rs1221515933 CA343167873 |
331 | I>T | No |
ClinGen gnomAD |
|
|
rs1339054910 CA343167877 |
332 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746079987 CA1240051 |
334 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs747187726 CA1240052 |
334 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343167897 rs1279343501 |
335 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 336 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343167914 rs1557887329 |
337 | Y>H | No |
ClinGen Ensembl |
|
|
rs1292058120 CA343167923 |
338 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs200507519 CA1240053 |
341 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs776956950 | 342 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343167950 rs776956950 |
342 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs962187415 CA32509950 |
343 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs759800504 CA1240055 |
343 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 346 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344730240 CA343167999 |
348 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA343167998 rs1300766271 |
348 | M>L | No |
ClinGen gnomAD |
|
|
rs1344730240 CA343168000 |
348 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1224121398 CA343168009 |
349 | W>* | No |
ClinGen gnomAD |
|
|
CA1240074 rs146036672 |
351 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1240075 rs746169039 |
352 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs769987468 CA1240076 |
353 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1240078 rs763506239 |
356 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs199798529 CA1240079 COSM212195 |
356 | A>V | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA343168064 rs760239861 |
357 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1240082 rs765971619 COSM1198392 COSM1198393 |
358 | V>M | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1053638729 CA32511257 |
359 | A>V | No |
ClinGen gnomAD |
|
|
rs1218699353 CA343168080 |
360 | P>L | No |
ClinGen TOPMed |
|
|
rs1218699353 CA343168079 |
360 | P>R | No |
ClinGen TOPMed |
|
|
CA1240084 rs754660018 |
361 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764880322 CA1240086 |
361 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3385406 COSM3385405 rs189860161 CA1240088 |
362 | V>L | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1240087 rs189860161 |
362 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751559391 CA1240089 |
363 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA343168099 rs757325841 |
364 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757325841 CA1240090 |
364 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1240093 rs770078538 |
366 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1429707720 CA343168109 |
366 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780240590 CA1240094 |
368 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 372 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343168161 rs866116077 |
374 | P>A | No |
ClinGen gnomAD |
|
|
CA32511352 rs866116077 |
374 | P>T | No |
ClinGen gnomAD |
|
|
CA1240097 rs769191592 |
375 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1292585334 CA343168167 |
375 | G>R | No |
ClinGen gnomAD |
|
|
CA343168184 rs1192843397 |
377 | M>R | No |
ClinGen gnomAD |
|
|
rs1243127354 COSM354084 CA343168207 |
380 | T>N | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs374837111 CA1240101 |
381 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs371741888 CA1240099 COSM207865 |
381 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1240100 rs371741888 |
381 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776216190 CA1240103 |
382 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM3399990 rs201493255 CA1240104 COSM3399989 |
382 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs752398649 CA1240106 |
385 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1240107 COSM145164 COSM1316943 rs553009271 |
386 | R>C | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA1240108 rs139893602 |
386 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1256286337 CA343168260 |
389 | L>P | No |
ClinGen TOPMed |
|
|
rs1025705912 CA343168265 |
390 | D>G | No |
ClinGen gnomAD |
|
|
rs1025705912 CA32511469 |
390 | D>V | No |
ClinGen gnomAD |
|
|
CA1240109 rs751432536 |
391 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs757233400 CA1240110 |
393 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA32511476 rs374769248 |
393 | N>S | No |
ClinGen gnomAD |
|
|
rs374769248 CA32511474 |
393 | N>T | No |
ClinGen gnomAD |
|
|
CA32511493 rs982411747 |
395 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1205122746 CA343168301 |
396 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750550050 CA1240113 |
398 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750550050 COSM899470 CA1240112 |
398 | A>V | Variant assessed as Somatic; 4.676e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA343168330 rs1427137680 |
399 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1240133 rs754042552 |
399 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1240134 rs574311094 |
400 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1240135 rs201544538 |
401 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA32513576 rs928370620 |
402 | A>T | No |
ClinGen Ensembl |
|
|
CA1240136 rs185363507 |
402 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1210886744 CA343168356 |
403 | L>P | No |
ClinGen TOPMed |
|
|
rs370038915 CA32513597 |
404 | C>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs778332953 CA1240138 |
405 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343168367 rs1347691553 |
405 | T>N | No |
ClinGen TOPMed |
|
|
CA1240139 rs747539488 |
407 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1240140 rs769284678 |
408 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363889836 CA343168388 |
409 | L>V | No |
ClinGen TOPMed |
|
|
CA343168396 rs1320793632 |
410 | G>D | No |
ClinGen TOPMed |
|
|
CA32513607 rs887103136 |
411 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 412 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA32513612 rs913050399 |
412 | Y>C | No |
ClinGen gnomAD |
|
|
COSM1138778 COSM301820 rs748891805 CA1240142 |
415 | A>V | lung Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1240144 rs774034677 |
417 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761645359 CA1240145 |
418 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA343168459 rs1175031909 |
420 | F>L | No |
ClinGen TOPMed |
|
|
rs1168087674 CA343168468 |
421 | P>R | No |
ClinGen gnomAD |
|
|
rs773196117 COSM463409 CA1240147 COSM1134769 COSM3399993 |
421 | P>S | kidney Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs141841342 COSM1336174 COSM1336173 CA1240149 |
425 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA343168501 rs1372540850 |
426 | T>I | No |
ClinGen gnomAD |
|
|
CA343168511 rs1190603779 |
428 | M>I | No |
ClinGen TOPMed |
|
|
rs755208449 CA1240152 |
428 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs931966834 CA32513710 |
428 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1240151 rs755208449 |
428 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343168514 rs1397577702 |
429 | F>V | No |
ClinGen gnomAD |
|
|
CA1240153 rs752922792 |
430 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA343168534 rs1293881401 |
431 | V>G | No |
ClinGen gnomAD |
|
|
rs758788652 CA1240154 |
433 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1240155 rs778008883 |
436 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 438 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1336175 CA1240156 COSM1336176 rs201312211 |
439 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs748767345 CA1240159 |
440 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA1240161 rs146017765 |
441 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA32513766 rs375147336 |
441 | L>H | No |
ClinGen ESP |
|
|
CA1240160 rs146017765 |
441 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138779073 CA1240162 |
442 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1240163 rs189052808 |
442 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772891725 CA1240164 |
443 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs201732618 CA1240165 |
444 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201732618 CA32513797 |
444 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1231867388 CA343168823 |
446 | L>F | No |
ClinGen TOPMed |
|
|
CA343168828 rs1181343814 |
447 | Y>C | No |
ClinGen gnomAD |
|
|
rs747778884 CA1240179 |
448 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 448 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 448 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343168845 rs1557890612 |
450 | D>N | No |
ClinGen Ensembl |
|
|
rs116543420 CA1240181 |
451 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1240182 rs746767121 |
454 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA343168885 rs1243372116 |
457 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1240187 rs775454403 |
458 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 462 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1240188 rs763196180 |
462 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs374913583 CA1240189 |
463 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1240191 rs139086068 |
464 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767934547 CA1240192 |
465 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343168956 rs1229932029 |
468 | L>I | No |
ClinGen gnomAD |
|
|
CA343168985 rs1460136642 COSM1583750 COSM899473 |
471 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA343168994 rs1238091914 |
473 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA343169015 rs752178903 |
475 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs375664026 CA32514477 |
475 | D>G | No |
ClinGen ESP TOPMed |
|
|
rs778433090 CA1240195 |
475 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA343169033 rs1557890716 |
478 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 480 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs114209656 CA1240198 |
481 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343169061 rs1161822351 |
482 | C>Y | No |
ClinGen gnomAD |
|
|
rs746726636 CA1240199 |
483 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs781149655 CA1240201 |
484 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA1240200 rs770784346 |
484 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1360560520 CA343169084 |
485 | H>L | No |
ClinGen gnomAD |
|
|
rs535849579 CA343169090 |
486 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs535849579 CA1240203 |
486 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs535849579 CA343169091 |
486 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1351026495 CA343169097 |
487 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 489 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775541658 CA1240204 |
492 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1240225 rs377145065 |
494 | L>P | No |
ClinGen ESP ExAC TOPMed |
|
|
rs768549118 CA1240223 |
494 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA32515933 rs769005522 COSM1668208 COSM1668207 |
496 | E>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA32515977 rs1055416031 |
497 | Y>* | No |
ClinGen TOPMed |
|
|
CA32515974 rs937861043 |
497 | Y>C | No |
ClinGen TOPMed |
|
|
COSM1336177 CA1240229 COSM1336178 rs185017757 |
503 | P>L | pancreas large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1240233 rs766823063 |
507 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32516038 rs74760081 |
507 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1251014804 CA343169499 |
510 | Y>* | No |
ClinGen TOPMed |
|
|
rs1343268165 CA343169509 |
511 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 512 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370759194 CA1240236 |
514 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA32516096 rs207460601 |
516 | G>C | No |
ClinGen Ensembl |
|
|
CA1240237 rs374480163 |
516 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1356687830 CA343169622 |
517 | P>R | No |
ClinGen TOPMed |
|
|
rs917736385 CA32516123 |
517 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 518 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356245036 CA343169681 |
520 | S>* | No |
ClinGen gnomAD |
|
|
CA1240239 rs368755630 |
522 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1240240 rs750160490 |
523 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1240241 rs755859846 |
523 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1557891670 CA343169728 |
524 | V>A | No |
ClinGen Ensembl |
|
|
CA1240242 rs779900948 |
524 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA343169735 rs1465982601 |
525 | I>F | No |
ClinGen gnomAD |
|
|
rs151291051 CA1240246 |
526 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1320983032 CA343169801 |
530 | L>F | No |
ClinGen gnomAD |
|
|
CA343169805 rs1389650191 |
530 | L>P | No |
ClinGen gnomAD |
|
|
rs1332243048 CA343169819 |
531 | T>I | No |
ClinGen gnomAD |
|
|
rs772188767 CA1240248 |
532 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245650242 CA343169855 |
534 | S>N | No |
ClinGen gnomAD |
|
|
rs777957206 CA1240249 |
537 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA343169971 rs1327721373 |
540 | Q>R | No |
ClinGen gnomAD |
|
|
rs1418537691 CA343170032 |
543 | S>C | No |
ClinGen TOPMed |
|
|
rs1330756813 CA343170078 |
545 | F>L | No |
ClinGen gnomAD |
|
|
CA32516207 rs371575041 |
545 | F>L | No |
ClinGen ESP |
|
|
CA1240251 rs771145013 |
545 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA1240252 rs777077761 |
546 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1254834956 CA343170114 |
547 | F>L | No |
ClinGen gnomAD |
|
|
rs1442458841 CA343170150 |
549 | P>L | No |
ClinGen gnomAD |
|
|
CA1240253 rs759921479 |
550 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 551 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 551 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343170245 rs1248292825 |
553 | S>L | No |
ClinGen gnomAD |
|
|
TCGA novel CA343170304 rs1231035020 |
555 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
| TCGA novel | 556 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 556 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1054189514 CA32516252 |
556 | Q>P | No |
ClinGen gnomAD |
|
|
CA343170332 rs1159606767 |
557 | F>L | No |
ClinGen gnomAD |
|
|
rs200484356 CA1240255 |
559 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200484356 CA343170376 CA1240256 |
559 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1240258 rs777259454 |
560 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1041228808 CA32516263 |
560 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 561 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA32516265 rs1020623896 |
561 | L>P | No |
ClinGen TOPMed |
|
|
CA343170463 rs1396618074 |
563 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343170523 rs1336072984 |
565 | V>A | No |
ClinGen TOPMed |
|
|
rs753693973 CA1240261 |
569 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs981816464 CA32516310 |
569 | Q>R | No |
ClinGen TOPMed |
|
|
rs754769527 CA1240262 |
570 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 570 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343170748 rs1571490717 |
574 | S>C | No |
ClinGen Ensembl |
|
|
rs778799703 CA1240263 |
574 | S>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q5TGP6
No regional properties for Q5TGP6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q5TGP6 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7Z745 | MROH2B | Maestro heat-like repeat-containing protein family member 2B | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLTRNPKTKS | SLQILQDSVK | WHHMAHKVNS | LLDAYSGLLS | NESMILAVNS | SFVDPLLQFE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SQLKIIESSF | GMLVVMPSLD | KVKEMGSSYE | YIEDMENLYH | NILNIYENIL | TSLVSKDLYK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LQILKEMLVW | MSKDSSYLQE | RIMVIINKVL | RFTVTKVRKY | ISVDAPCLGL | LAAELSLLCS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HEDPSIVKQA | SLGMCHLLYI | ARCQNDIGTN | KPTNGKSHSL | QFPSSDVEFL | PKEFQQDESK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IAQRVGQTLL | PPLLTDFVQS | LLMKLSSPDD | KIASDAASIL | IFTLEFHAEK | VTMVSKIVDA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IYRQLCDNNC | MKDVMLQVIT | LLTCTSPKKV | IFQLMDYPVP | ADDTLIQMWK | AACSQASVAP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HVLKTILLIL | KGKPGEMEDT | VTEGKRFSLD | ITNLMPLAAC | QALCTFLPLG | SYRKAVAQYF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PQLLTTLMFQ | VFYNSELKPI | LKDRALYAQD | ALRVLLNCSG | LQQVDITLMK | ENFWDQLSED |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LCYYHGVCFI | AKTLSEYNFP | QFPETLSYLY | KLSVEGPRRS | EDTVIVLIFL | TEVSFVDCEQ |
| 550 | 560 | 570 | |||
| LCSHFLFLPK | FKSKFQFLVS | LPLNVGSYQD | LRS |