Q9HCX4
PR
Gene name |
TRPC7 (TRP7) |
Protein name |
Short transient receptor potential channel 7 |
Names |
TrpC7, Transient receptor protein 7, TRP-7, hTRP7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57113 |
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 Q9HCX4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9HCX4-F1 | Predicted | AlphaFoldDB |
655 variants for Q9HCX4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs756102515 CA3421626 |
3 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361471030 rs1193060196 |
4 | N>S | No |
ClinGen gnomAD |
|
|
CA361471024 rs1339592722 |
5 | S>C | No |
ClinGen gnomAD |
|
|
CA3421623 rs757370286 |
7 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA361471000 rs1368051527 |
8 | K>R | No |
ClinGen gnomAD |
|
|
rs921330305 CA128551073 |
9 | N>H | No |
ClinGen Ensembl |
|
|
CA128551072 rs922263010 |
9 | N>S | No |
ClinGen TOPMed |
|
|
rs1395898009 CA361470985 |
10 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3421621 rs764438365 |
12 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758800404 CA3421620 |
12 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3421616 rs143761375 |
13 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3421617 rs143761375 |
13 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs577536758 CA3421618 |
13 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3421615 rs766890892 |
15 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361470950 COSM1061140 rs1430173286 COSM1061138 |
16 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA128551071 rs988718055 |
17 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3421613 rs537750427 |
17 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3421611 rs749069638 |
19 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA361470917 rs1273456250 |
22 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA128551070 rs955730809 |
22 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361470911 rs1344772983 |
23 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769579477 CA3421609 |
23 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769579477 CA128551068 |
23 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745732958 CA3421608 |
25 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 25 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749813863 CA361470895 |
26 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA3421607 rs749813863 |
26 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA128551067 rs970820018 |
26 | I>S | No |
ClinGen TOPMed |
|
|
COSM271898 rs770873060 CA3421606 COSM271897 |
27 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361470890 rs1349878126 |
27 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3421605 rs187828898 |
28 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1398410010 CA361470881 |
29 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA361470882 rs1398410010 |
29 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA128551065 rs372394786 |
30 | A>P | No |
ClinGen ESP TOPMed |
|
|
rs372394786 CA128551064 |
30 | A>S | No |
ClinGen ESP TOPMed |
|
|
CA128551066 rs372394786 |
30 | A>T | No |
ClinGen ESP TOPMed |
|
|
rs778114737 CA3421604 |
32 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA128551063 rs368448135 |
34 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA361470819 rs1292047728 |
38 | T>A | No |
ClinGen TOPMed |
|
|
CA3421602 rs752977204 |
38 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA361470797 rs1182478627 COSM3409746 COSM3409747 |
41 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1182478627 CA361470798 |
41 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1295237379 CA361470794 |
42 | P>S | No |
ClinGen gnomAD |
|
|
CA3421601 rs376718522 |
43 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1209602545 CA361470765 |
46 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1357755967 CA361470763 |
46 | R>P | No |
ClinGen gnomAD |
|
|
CA361470767 rs1209602545 |
46 | R>S | No |
ClinGen gnomAD |
|
|
CA361470749 rs1227030215 |
48 | L>R | No |
ClinGen gnomAD |
|
|
rs895167657 CA128551061 |
49 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1289019888 CA361470747 |
49 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1289019888 CA361470746 |
49 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs766951728 CA3421599 |
50 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs766951728 CA3421598 |
50 | S>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 51 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128551059 rs1016486376 |
56 | I>S | No |
ClinGen TOPMed |
|
| TCGA novel | 56 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561733109 CA361470690 |
57 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| rs1561733105 | 58 | V>E | No | Ensembl | |
|
rs1580993734 TCGA novel CA361470689 |
58 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
COSM3138775 CA361470676 COSM3138776 rs1391101274 |
60 | R>W | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 61 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356770115 CA361470663 |
62 | M>V | No |
ClinGen TOPMed |
|
|
CA3421594 rs762524681 |
63 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA3421593 rs775135913 |
65 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3421591 rs769425786 |
67 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3421590 rs368673916 |
72 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 73 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776398236 CA3421589 |
73 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA361470552 rs1207421665 |
77 | M>I | No |
ClinGen gnomAD |
|
|
CA3421588 rs372900766 |
80 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3421586 rs777935954 |
81 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3421587 rs777935954 |
81 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777935954 CA361470529 |
81 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262485547 CA361470525 |
82 | L>M | No |
ClinGen TOPMed |
|
|
CA3421585 rs772294767 |
84 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 86 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361470502 rs1274493309 COSM248009 COSM248008 |
86 | V>M | Variant assessed as Somatic; 0.0 impact. prostate breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3421583 rs71589313 |
87 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3421582 rs755269044 |
88 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA361470488 rs1162935656 |
88 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 90 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3421580 rs780412463 |
92 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA361470449 rs1580993554 |
94 | T>A | No |
ClinGen Ensembl |
|
|
CA3421579 rs536224426 |
94 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA361470440 rs1254904117 |
95 | E>V | No |
ClinGen gnomAD |
|
|
rs1048395885 CA128551055 |
98 | L>P | No |
ClinGen Ensembl |
|
|
CA3421577 rs763536034 |
100 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3941035 rs1171659632 COSM3941036 CA361470408 |
101 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA361470394 rs1359128979 |
102 | N>K | No |
ClinGen TOPMed |
|
|
CA361470378 rs752304356 |
105 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3421575 rs752304356 |
105 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1397312641 COSM258730 COSM258731 CA361470380 |
105 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 106 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3421573 rs759226343 |
106 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA361470357 rs1158833513 |
109 | A>T | No |
ClinGen Ensembl |
|
|
CA128551052 rs932646076 |
109 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1247836440 CA361470330 |
114 | I>F | No |
ClinGen TOPMed |
|
|
rs1354816581 CA361470300 |
118 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs944568977 CA128551051 |
119 | V>E | No |
ClinGen Ensembl |
|
|
CA361470295 rs1217225206 |
119 | V>M | No |
ClinGen TOPMed |
|
|
rs1270710457 COSM242068 CA361470288 COSM242067 |
120 | R>C | large_intestine Variant assessed as Somatic; impact. prostate [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA361470290 rs1270710457 |
120 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1432747439 CA361470279 |
121 | I>S | No |
ClinGen gnomAD |
|
|
CA361470276 rs1338221982 |
122 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1338221982 CA361470277 |
122 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1435658671 CA361470258 |
124 | A>V | No |
ClinGen Ensembl |
|
|
rs1580993329 CA361470241 |
127 | N>T | No |
ClinGen Ensembl |
|
|
rs1580993320 CA361470233 |
128 | H>P | No |
ClinGen Ensembl |
|
|
CA3421565 rs768980158 |
129 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188825078 CA361470213 |
131 | F>S | No |
ClinGen gnomAD |
|
|
CA3421562 rs191985200 |
132 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs756447770 CA3421561 |
132 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3421558 rs376824372 |
134 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3421559 rs781686269 |
134 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs376824372 CA361470194 |
134 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361470189 rs1341223606 |
135 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3421556 rs764779881 |
136 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1230513 COSM1230512 rs754596685 CA3421555 |
136 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361470175 rs1580993237 |
138 | T>A | No |
ClinGen Ensembl |
|
|
CA361470171 rs1347533887 |
138 | T>K | No |
ClinGen TOPMed |
|
|
CA361470173 rs1347533887 |
138 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs766151957 CA3421553 |
139 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361470170 rs766151957 |
139 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128551049 rs571109629 |
141 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA3421552 rs571109629 |
141 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA128551050 rs934550509 |
141 | P>T | No |
ClinGen Ensembl |
|
|
rs201529246 CA3421549 |
144 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1306693473 CA361470118 |
147 | R>C | No |
ClinGen TOPMed |
|
|
COSM1268677 CA361470117 rs1360853337 COSM1268676 |
147 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs768622555 CA3421547 |
148 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA361470112 COSM1619491 rs1397447321 COSM1619492 |
148 | D>N | liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs200679708 CA3421545 |
149 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770102293 CA3421544 |
150 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361470100 rs1164275793 |
150 | D>N | Variant assessed as Somatic; 4.73e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361470081 rs1310378437 |
152 | Y>C | No |
ClinGen TOPMed |
|
|
CA361470080 rs1310378437 |
152 | Y>F | No |
ClinGen TOPMed |
|
|
rs747604567 CA3421540 |
155 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1336340035 CA361470039 |
158 | G>R | No |
ClinGen gnomAD |
|
|
CA3421535 rs755952844 |
159 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs765991425 CA3421536 |
159 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA361470027 rs1300330161 |
160 | R>H | No |
ClinGen gnomAD |
|
|
CA361470011 rs1434766985 |
162 | S>F | No |
ClinGen gnomAD |
|
|
CA3421534 rs750303345 |
163 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs761777158 CA3421532 |
164 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1409896933 CA361469990 |
165 | I>M | No |
ClinGen gnomAD |
|
|
rs1205783277 CA361469980 |
167 | P>H | No |
ClinGen TOPMed |
|
|
rs764185067 CA3421530 |
168 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775748277 CA3421528 |
171 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775748277 CA361469956 |
171 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775748277 COSM268475 CA3421529 COSM268476 |
171 | A>V | kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA128551046 rs1041562468 |
175 | Q>L | No |
ClinGen gnomAD |
|
|
rs1041562468 CA361469929 |
175 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1488830808 CA361469924 |
176 | E>* | No |
ClinGen gnomAD |
|
|
rs1317213422 CA361469915 |
177 | Y>C | No |
ClinGen gnomAD |
|
|
CA361469894 rs1217066417 |
180 | V>L | No |
ClinGen gnomAD |
|
|
COSM1268679 COSM1268678 rs1217066417 CA361469895 |
180 | V>M | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA361469866 rs1470705890 |
184 | L>P | No |
ClinGen TOPMed |
|
|
rs865965537 CA128551045 |
187 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3421522 rs778176976 |
188 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA128551044 rs201999319 |
188 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs748800350 CA3421521 |
189 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3421520 rs748800350 |
189 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1346982644 CA361469831 |
190 | I>M | No |
ClinGen gnomAD |
|
|
rs1174254428 CA361469828 |
191 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1174254428 CA361469830 |
191 | E>K | No |
ClinGen gnomAD |
|
|
CA361469820 rs1424256012 |
192 | R>Q | No |
ClinGen gnomAD |
|
|
rs1455577306 CA361469812 |
193 | P>L | No |
ClinGen gnomAD |
|
|
CA361469817 rs1194007654 |
193 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA361469791 COSM4141419 rs1207968413 COSM4141418 |
196 | Y>C | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA361469773 rs1306370645 |
198 | C>* | No |
ClinGen gnomAD |
|
|
CA361469778 rs1365353279 |
198 | C>R | No |
ClinGen TOPMed |
|
|
CA361469767 rs1561732594 |
199 | K>R | No |
ClinGen Ensembl |
|
|
CA128551043 rs990875732 |
200 | C>Y | No |
ClinGen TOPMed |
|
|
rs1192255145 CA361469724 |
205 | E>A | No |
ClinGen Ensembl |
|
|
rs1207634906 CA361469721 |
205 | E>D | No |
ClinGen gnomAD |
|
|
CA3421517 rs750105221 |
205 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA361469718 rs1311225654 |
206 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs757025359 CA3421515 |
208 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757025359 COSM1433277 COSM1433278 CA3421516 |
208 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1281562854 CA361469702 |
208 | R>W | No |
ClinGen gnomAD |
|
|
rs866162493 CA128551042 |
209 | K>* | No |
ClinGen Ensembl |
|
|
rs565522086 CA361469689 |
210 | D>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
COSM1328278 rs565522086 COSM1328277 CA128551041 |
210 | D>V | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA3421514 rs751472048 |
211 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs763976807 CA3421512 |
214 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752775491 CA3421511 |
215 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs752775491 CA3421510 COSM1061128 COSM1061126 |
215 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA128551040 rs539024298 |
216 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs539024298 CA128551039 |
216 | R>L | No |
ClinGen Ensembl |
|
|
rs544029791 CA3421509 |
217 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA361469643 rs1192422925 |
218 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 218 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361469640 rs1429016496 |
218 | R>L | No |
ClinGen gnomAD |
|
|
CA128551038 rs978694250 |
219 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1191110748 CA361469618 |
221 | A>V | No |
ClinGen TOPMed |
|
|
rs373882588 CA3421506 |
222 | Y>C | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
| TCGA novel | 226 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3421503 rs748828356 |
227 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs769443068 CA361469576 |
228 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3421500 rs769443068 |
228 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs779640346 CA3421501 |
228 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1274322123 CA361469548 |
232 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 233 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361469535 rs1309760335 |
235 | S>G | No |
ClinGen gnomAD |
|
|
rs745468742 CA3421499 |
236 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167936202 CA361469516 |
237 | D>V | No |
ClinGen TOPMed |
|
|
rs555230288 CA3421498 |
239 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs757044773 CA3421497 |
242 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 244 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 245 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361469458 rs1167081572 |
247 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1172134263 CA361469425 |
251 | R>K | No |
ClinGen TOPMed |
|
|
rs752631527 CA361469423 |
251 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA3421491 rs763591449 |
253 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763591449 CA3421492 |
253 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 253 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763591449 CA361469414 |
253 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361469413 rs1561732404 |
254 | N>H | No |
ClinGen Ensembl |
|
|
CA361469408 rs1435569769 |
254 | N>I | No |
ClinGen TOPMed |
|
|
CA361469407 rs1257550712 |
254 | N>K | No |
ClinGen gnomAD |
|
|
CA3421490 rs570625045 |
255 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3421488 rs761089395 |
257 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1196733827 CA361469389 |
257 | T>S | No |
ClinGen gnomAD |
|
|
CA3421487 rs773517278 |
258 | E>K | No |
ClinGen ExAC gnomAD |
|
| rs774965806 | 261 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 261 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361469316 rs1455192340 |
262 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs764746764 CA3421464 |
263 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3421463 rs759103610 |
264 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1022677765 CA128546476 |
264 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 266 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361469287 rs1455135673 |
267 | S>P | No |
ClinGen gnomAD |
|
|
rs1168458574 CA361469259 |
270 | C>* | No |
ClinGen TOPMed |
|
|
rs1411744797 CA361469228 |
274 | V>A | No |
ClinGen TOPMed |
|
|
rs754976469 CA3421455 |
277 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3421456 rs754976469 |
277 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 278 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 279 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432751859 CA361469184 |
282 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758403836 CA128546474 |
282 | R>Q | No |
ClinGen Ensembl |
|
|
CA361469167 rs1325381169 COSM1720792 COSM1720791 |
285 | E>K | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1318378773 CA361469143 |
288 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1262480824 CA361469132 |
289 | A>V | No |
ClinGen Ensembl |
|
|
rs750569717 CA3421451 |
293 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361469100 rs1243141350 |
294 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs752027124 CA3421448 |
296 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1397216616 CA361469082 |
297 | F>L | No |
ClinGen gnomAD |
|
|
CA3421447 rs764689781 |
298 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361469066 rs1475357768 |
299 | V>F | No |
ClinGen gnomAD |
|
|
rs999829654 CA128546473 |
301 | S>F | No |
ClinGen Ensembl |
|
|
rs778454416 CA3421445 |
302 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778454416 CA361469047 |
302 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128546472 rs1022700048 |
304 | H>Y | No |
ClinGen Ensembl |
|
|
rs1440978507 COSM1720789 CA361469024 COSM1720790 |
305 | R>C | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1257083987 CA361469023 |
305 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA361469018 rs1211795803 |
306 | P>S | No |
ClinGen gnomAD |
|
|
rs765755055 CA3421444 |
307 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 307 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760276000 CA3421443 |
309 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs772720008 CA3421442 |
309 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3421440 rs761595859 |
310 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771774106 CA3421441 COSM1433273 COSM1433274 |
310 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1004069707 CA128546471 |
312 | K>T | No |
ClinGen TOPMed |
|
|
rs768453553 CA3421438 |
314 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs768453553 CA361468973 COSM1486300 COSM1486301 |
314 | A>T | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3421437 rs749177087 |
314 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361468968 rs1341971168 |
315 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1167079282 CA361468925 |
320 | K>N | No |
ClinGen gnomAD |
|
| rs1476346650 | 322 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361050780 rs1165731705 |
322 | F>I | No |
ClinGen gnomAD |
|
|
rs774016418 CA3421422 |
323 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361050751 rs1176774603 |
324 | A>V | No |
ClinGen gnomAD |
|
|
rs768402245 CA3421421 |
328 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1157949824 CA361050653 |
331 | Q>R | No |
ClinGen TOPMed |
|
|
CA361050586 rs1213769874 |
334 | T>I | No |
ClinGen gnomAD |
|
|
rs1361032046 CA361050575 |
335 | M>V | No |
ClinGen TOPMed |
|
|
rs1304438131 CA361050525 |
337 | Y>C | No |
ClinGen gnomAD |
|
|
rs199816122 CA3421418 |
338 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 339 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374548234 CA361050503 |
339 | N>S | No |
ClinGen gnomAD |
|
|
rs1020433981 CA128102735 |
340 | L>V | No |
ClinGen gnomAD |
|
|
rs769827279 CA3421417 |
344 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA361050439 rs1370899715 COSM1061109 COSM1061107 |
344 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA361050405 rs745931047 |
346 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3421416 rs745931047 |
346 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3421415 rs781262040 |
347 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158689905 CA361050363 |
348 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs771143978 CA3421414 |
349 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3421413 rs747176300 |
349 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361050346 rs1561697052 |
350 | V>L | No |
ClinGen Ensembl |
|
|
CA3421412 rs778169592 |
352 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA361050290 rs1452581208 |
354 | A>T | No |
ClinGen gnomAD |
|
|
CA128102692 rs1017812223 |
360 | I>T | No |
ClinGen TOPMed |
|
|
rs779287423 CA3421408 |
362 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA361050128 rs1272477212 |
364 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3421406 rs371033656 |
364 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361050132 rs1317118107 |
364 | F>L | No |
ClinGen gnomAD |
|
|
rs1482761332 CA361050122 |
365 | L>P | No |
ClinGen TOPMed |
|
|
rs551264578 COSM735623 CA3421403 COSM735622 |
366 | A>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs551264578 CA3421404 |
366 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3421402 rs377699054 |
367 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361050115 rs1443695505 |
367 | I>V | No |
ClinGen gnomAD |
|
|
rs1431820180 CA361050069 |
373 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 373 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM248006 rs572815473 CA3421381 COSM248007 |
379 | R>* | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs776675990 COSM1433271 CA3421380 COSM1433272 |
379 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3421378 rs760834791 |
383 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361048737 rs1356324708 |
383 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 383 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397574657 CA361048716 |
385 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1414129414 CA361048692 |
386 | M>T | No |
ClinGen TOPMed |
|
|
rs748353763 CA3421375 |
387 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3421376 rs772062710 |
387 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA361048667 rs1188556941 |
388 | F>V | No |
ClinGen Ensembl |
|
|
rs774469863 CA3421374 |
389 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs906059363 CA128096779 |
393 | V>I | No |
ClinGen Ensembl |
|
|
rs1162151291 CA361048570 |
395 | F>L | No |
ClinGen gnomAD |
|
|
rs1418130940 CA361048536 |
400 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1418130940 CA361048535 |
400 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs560762191 CA3421373 |
404 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA128096758 rs566980923 |
407 | S>C | No |
ClinGen Ensembl |
|
|
CA361048464 rs1278067256 |
407 | S>P | No |
ClinGen TOPMed |
|
|
CA128096760 rs566980923 |
407 | S>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 408 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780523861 CA3421371 |
409 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361048436 COSM4005846 rs1196926705 COSM4005845 |
409 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs770351367 CA3421370 |
410 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144360761 CA3421369 |
411 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1213139580 CA361048412 |
411 | E>V | No |
ClinGen gnomAD |
|
|
CA128096730 rs1037449739 |
412 | G>D | No |
ClinGen Ensembl |
|
|
CA128096739 rs762104982 |
412 | G>S | No |
ClinGen TOPMed |
|
|
rs777206991 CA3421368 |
413 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA3421367 rs757865019 |
413 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA361048371 rs1580879695 |
415 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 417 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333806112 CA361048351 |
417 | P>T | No |
ClinGen gnomAD |
|
|
rs377216472 CA3421366 |
418 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs753754845 CA3421364 |
419 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753754845 CA3421363 |
419 | E>K | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3421362 rs766284820 |
420 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA3421361 rs373034305 |
421 | F>C | No |
ClinGen ESP ExAC |
|
|
CA3421360 rs750411927 |
421 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA361048299 rs1323731364 |
421 | F>V | No |
ClinGen gnomAD |
|
|
rs767593781 CA3421359 |
422 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1164669390 CA361048282 |
422 | T>I | No |
ClinGen gnomAD |
|
|
rs761840301 CA3421358 |
423 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1160045860 CA361048280 |
423 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs768816927 CA3421357 |
426 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs768816927 CA3421356 |
426 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs35643545 CA361048187 |
429 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3421354 rs35643545 |
429 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 430 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3421353 rs770157211 |
431 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3421352 rs746320777 |
434 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs781576825 COSM1541873 CA3421351 COSM1541872 |
435 | Q>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3421350 rs372364792 |
436 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1404256630 CA361048072 |
438 | W>C | No |
ClinGen TOPMed |
|
|
rs747658098 CA128096582 CA3421349 |
441 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 443 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867678481 CA128096573 |
444 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA128096577 rs776665407 |
444 | M>T | No |
ClinGen Ensembl |
|
|
CA3421348 rs754614627 |
446 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3421347 rs754614627 |
446 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs537574881 CA128096557 |
448 | L>S | No |
ClinGen 1000Genomes |
|
|
CA361047926 rs12651770 |
449 | G>* | No |
ClinGen gnomAD |
|
|
rs12651770 CA128096556 |
449 | G>R | No |
ClinGen gnomAD |
|
|
CA3421331 rs770100044 |
450 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA3421329 rs777169920 |
452 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA361046709 rs1463314515 |
452 | W>R | No |
ClinGen TOPMed |
|
|
CA361046693 rs1291614463 |
454 | E>Q | No |
ClinGen TOPMed |
|
|
CA361046687 rs1388801455 |
455 | C>R | No |
ClinGen TOPMed |
|
|
rs747558680 CA3421327 |
458 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA128087922 rs780950537 |
458 | I>T | No |
ClinGen Ensembl |
|
|
rs771396599 CA3421328 |
458 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1166603582 CA361046653 |
459 | W>C | No |
ClinGen gnomAD |
|
|
rs773680481 CA3421326 |
459 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768307144 CA3421325 |
460 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748913544 CA3421324 |
461 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3421323 rs779892544 |
464 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA361046622 rs779892544 |
464 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1226362904 CA361046624 |
464 | R>W | No |
ClinGen TOPMed |
|
|
rs375311529 CA128087869 |
466 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA361046606 CA3421321 rs115477500 |
467 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3421320 rs115477500 |
467 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764111463 CA3421317 |
469 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs758500317 CA3421316 |
469 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1043087601 CA128087808 |
471 | W>C | No |
ClinGen TOPMed |
|
| TCGA novel | 473 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361046527 rs1419921320 |
474 | L>Q | No |
ClinGen gnomAD |
|
|
rs765489668 CA3421314 |
475 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1278248833 CA361046519 |
475 | D>Y | No |
ClinGen gnomAD |
|
|
CA3421312 rs776796232 |
476 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs766782300 CA3421311 |
476 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs765349144 CA128087776 |
477 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA361046496 rs1580864434 |
477 | G>R | No |
ClinGen Ensembl |
|
|
rs761041172 CA3421310 |
478 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs571897384 CA3421308 |
481 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1187444988 CA361046448 |
481 | I>T | No |
ClinGen TOPMed |
|
|
CA3421306 rs368396777 |
482 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1230515 COSM1230514 rs769639606 CA3421305 |
483 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs992776134 CA128087738 |
484 | A>T | No |
ClinGen gnomAD |
|
|
rs745537292 CA3421304 |
484 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361046411 rs376083475 |
485 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3421303 rs376083475 |
485 | S>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA128087729 rs988257842 |
488 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs757096759 CA3421302 |
489 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA128087713 rs960081629 |
490 | F>I | No |
ClinGen TOPMed |
|
|
CA3421300 rs182937363 |
491 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361046353 rs1561688214 |
491 | M>R | No |
ClinGen Ensembl |
|
|
CA361046339 rs1192302035 |
492 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA361046336 rs1192302035 |
492 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1487195551 CA361046329 |
493 | F>Y | No |
ClinGen gnomAD |
|
|
rs544669748 CA128087690 |
496 | A>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs983392738 CA128087688 |
497 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA128087686 rs983392738 |
497 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA361046240 rs1382779360 |
501 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs981754440 CA128087676 |
502 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA361046217 rs1378293784 |
503 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs371141920 CA3421297 |
503 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3421294 rs141118703 |
505 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361046189 rs1407269298 |
505 | Q>H | No |
ClinGen gnomAD |
|
|
rs199830148 CA3421293 |
505 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 506 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1580864197 CA361046167 |
507 | V>A | No |
ClinGen Ensembl |
|
|
CA3421292 rs773570421 |
507 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA128087627 rs10039374 |
509 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3421291 rs768198424 |
509 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1238726354 CA361046136 COSM3409742 COSM3409743 |
510 | D>N | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA361046119 rs1180377838 |
511 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3421290 rs762550006 |
511 | T>M | Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361046107 rs775071978 |
512 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA128087619 rs541652034 |
512 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs541652034 CA361046103 |
512 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3421288 rs541652034 |
512 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3421289 rs775071978 |
512 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA361046081 rs776377073 CA3421286 |
513 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361046087 rs1282679203 |
513 | H>R | No |
ClinGen gnomAD |
|
|
rs746866069 CA3421284 |
515 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3421283 rs555327305 |
516 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1017393219 CA128087585 |
516 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778916426 CA3421280 |
518 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753976097 CA3421278 |
519 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361045984 rs1380636273 |
520 | E>K | No |
ClinGen gnomAD |
|
|
rs1452476875 CA361045963 CA361045958 |
521 | V>L | No |
ClinGen gnomAD |
|
|
rs1489139042 CA361045907 |
524 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs878985325 CA128087564 |
525 | T>S | No |
ClinGen Ensembl |
|
|
rs201280628 CA3421272 |
526 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs890528025 CA128087551 |
527 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1250898831 CA361045123 |
529 | D>E | No |
ClinGen gnomAD |
|
|
rs1440164095 CA361045130 |
529 | D>Y | No |
ClinGen TOPMed |
|
|
rs775584697 CA3421241 |
531 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746044605 CA3421239 CA3421240 |
532 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA361045068 rs1232863025 |
533 | P>S | No |
ClinGen gnomAD |
|
|
CA361045073 rs1232863025 |
533 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781601567 CA3421238 |
536 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361045027 rs781601567 |
536 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361045019 rs1176773246 |
537 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs757670330 CA3421237 |
539 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1397780134 CA361044958 |
540 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778137925 CA3421235 |
541 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs755662783 CA3421231 |
545 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1320593384 CA361044863 |
545 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750313348 CA3421227 |
548 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs762902421 CA3421225 |
549 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762902421 CA3421226 |
549 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361044797 rs1251187616 |
550 | L>V | No |
ClinGen gnomAD |
|
|
CA361044744 rs1280885502 |
552 | F>C | No |
ClinGen TOPMed |
|
|
CA128085068 rs369518863 |
553 | S>C | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 553 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3421222 rs745989586 |
554 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs183404828 CA3421220 |
554 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
COSM735627 COSM735626 CA3421221 rs183404828 |
554 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed |
|
rs745989586 CA3421223 |
554 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs192233171 CA3421218 |
558 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758723458 CA3421217 |
560 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447383682 CA361044586 |
561 | A>G | No |
ClinGen gnomAD |
|
|
CA361044567 rs1378536184 |
562 | N>S | No |
ClinGen gnomAD |
|
|
CA3421215 rs779338400 |
563 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1391009551 CA361044501 |
565 | F>L | No |
ClinGen gnomAD |
|
|
rs1330057196 CA361044362 |
571 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 572 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756848255 CA3421211 |
573 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1402401994 CA361044320 |
574 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1198248875 CA361044024 |
583 | M>R | No |
ClinGen gnomAD |
|
| TCGA novel | 586 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361043974 rs1452188490 |
586 | F>S | No |
ClinGen gnomAD |
|
|
CA361043949 rs553050414 |
587 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553050414 CA3421209 |
587 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361043899 rs1477162644 |
588 | M>I | No |
ClinGen TOPMed |
|
|
rs1487208100 CA361043816 |
592 | A>S | No |
ClinGen gnomAD |
|
|
CA361043786 rs1285014168 |
594 | M>L | No |
ClinGen gnomAD |
|
|
CA128084999 rs899787367 |
594 | M>T | No |
ClinGen TOPMed |
|
|
rs762693951 CA3421207 |
595 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373152144 CA3421205 |
601 | Y>H | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1331308753 CA361043600 |
602 | S>C | No |
ClinGen TOPMed |
|
|
CA3421202 rs771146302 |
605 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3421201 rs760900591 |
605 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772461925 CA3421199 |
606 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs892191417 CA128084961 |
607 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3421197 rs779388940 |
608 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3421195 rs749812539 |
609 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128084951 rs780636115 |
612 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3421194 rs780636115 |
612 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA128084942 rs924931100 |
615 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA361053847 rs1342786263 |
616 | V>I | No |
ClinGen gnomAD |
|
|
CA128112050 rs1017566541 |
617 | E>K | No |
ClinGen Ensembl |
|
|
rs987487846 CA128112028 |
618 | E>* | No |
ClinGen Ensembl |
|
|
rs1446160805 CA361053775 |
622 | T>A | No |
ClinGen gnomAD |
|
|
rs1347941984 CA361053724 |
626 | S>Y | No |
ClinGen gnomAD |
|
|
CA3421173 rs369259457 |
629 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752408019 CA3421172 |
631 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1411431588 CA361053667 |
632 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361053619 rs1472967722 |
636 | V>M | No |
ClinGen gnomAD |
|
|
CA361053610 rs764111681 |
637 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA128112007 rs764111681 |
637 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs756214253 CA3421167 |
641 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs902339943 CA128111992 |
643 | K>E | No |
ClinGen gnomAD |
|
|
rs1219134418 CA361053527 |
643 | K>R | No |
ClinGen TOPMed |
|
|
rs1278245016 CA361053509 |
644 | F>L | No |
ClinGen TOPMed |
|
|
CA3421165 rs767652736 |
645 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA3421164 rs761895627 |
646 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA128111980 rs1022580373 |
648 | I>L | No |
ClinGen gnomAD |
|
|
rs1022580373 CA361053420 |
648 | I>V | No |
ClinGen gnomAD |
|
|
CA3421162 rs372192731 COSM3696921 COSM3696920 |
651 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs763354606 CA3421161 |
652 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs4976482 CA361053360 |
653 | Y>C | No |
ClinGen gnomAD |
|
|
CA128111949 rs4976482 |
653 | Y>S | No |
ClinGen gnomAD |
|
|
CA128111939 rs746673112 |
654 | G>S | No |
ClinGen Ensembl |
|
|
rs150500079 CA3421158 |
655 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3421156 rs771632177 |
658 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 659 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361053202 rs1179975834 |
660 | M>T | No |
ClinGen gnomAD |
|
|
rs1380450435 CA361053210 |
660 | M>V | No |
ClinGen gnomAD |
|
|
rs1245792721 CA361053180 |
662 | V>L | No |
ClinGen gnomAD |
|
|
CA128111891 rs368560543 |
663 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1222803245 CA361053076 |
668 | L>V | No |
ClinGen gnomAD |
|
|
CA361053019 rs1284297074 |
671 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1216597903 CA361052994 |
672 | I>M | No |
ClinGen gnomAD |
|
|
rs1355048914 CA361052887 |
678 | E>K | No |
ClinGen gnomAD |
|
|
CA361052843 rs1312018384 |
680 | E>D | No |
ClinGen gnomAD |
|
|
CA3421131 rs779668597 |
687 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1160431714 CA361052277 |
690 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA361052270 rs1176153805 |
691 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1008384190 CA361052269 |
691 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1008384190 CA128108448 |
691 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA361052257 rs1192216296 |
692 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA128108445 rs957116934 |
693 | K>E | No |
ClinGen TOPMed |
|
|
rs1421043429 CA361052237 |
694 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA361052219 rs1410186371 |
695 | W>C | No |
ClinGen TOPMed |
|
|
rs1290027565 CA361052184 |
699 | F>L | No |
ClinGen TOPMed |
|
|
CA128108444 rs866424613 |
702 | G>E | No |
ClinGen gnomAD |
|
|
CA361052135 rs866424613 |
702 | G>V | No |
ClinGen gnomAD |
|
|
CA361052133 rs1478373655 |
703 | R>G | No |
ClinGen gnomAD |
|
|
CA128108428 rs781750138 |
707 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs781750138 CA128108440 |
707 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA361052079 rs1265762481 |
707 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs781750138 CA361052075 |
707 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 708 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 709 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361052023 rs1312855636 |
712 | V>L | No |
ClinGen TOPMed |
|
|
rs1483205332 CA361052012 |
713 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1483205332 CA361052014 |
713 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1212352579 CA361051970 |
716 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
CA361051967 rs1483036658 |
716 | K>N | No |
ClinGen TOPMed |
|
|
rs1316090061 CA361051947 |
717 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 718 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361051944 rs1257701506 |
718 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361051934 rs1219446597 |
718 | F>L | No |
ClinGen gnomAD |
|
|
rs1318398764 CA361051910 |
720 | Y>F | No |
ClinGen gnomAD |
|
|
COSM1061088 CA361051903 rs1394288767 COSM1061090 |
721 | L>F | endometrium Variant assessed as Somatic; 5.238e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3421129 rs200515814 |
723 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1378359253 CA361051872 |
723 | M>V | No |
ClinGen gnomAD |
|
|
CA361051802 rs1397456367 |
727 | M>I | No |
ClinGen gnomAD |
|
|
CA3421128 rs191198339 |
727 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 728 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM448624 COSM448623 rs1045049830 CA128108416 |
730 | I>L | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3421126 rs751702897 |
732 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1434418163 CA361051705 |
734 | K>* | No |
ClinGen TOPMed |
|
|
rs1423542582 CA361051666 |
737 | A>T | No |
ClinGen gnomAD |
|
|
rs1415185646 CA361051634 |
739 | S>N | No |
ClinGen gnomAD |
|
|
CA361051608 rs1485754621 |
741 | E>K | No |
ClinGen gnomAD |
|
|
rs1459257381 CA361051484 |
746 | M>I | No |
ClinGen gnomAD |
|
|
CA361051493 rs1199571885 |
746 | M>R | No |
ClinGen gnomAD |
|
|
CA3421121 rs576602589 |
748 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361051458 rs576602589 |
748 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754289003 CA3421120 |
752 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA361051386 rs1369843082 |
753 | F>I | No |
ClinGen TOPMed |
|
|
rs376414404 CA3421100 |
755 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1376160871 CA361051282 |
756 | T>A | No |
ClinGen gnomAD |
|
|
rs373255782 CA3421099 |
756 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369107882 CA3421098 |
757 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA128107678 rs567504665 |
757 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs567504665 CA128107662 |
757 | R>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA128107664 rs567504665 |
757 | R>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs751001592 CA3421097 |
759 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs199611331 CA361051234 |
760 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199611331 CA3421096 |
760 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1580836990 CA361051233 |
761 | G>S | No |
ClinGen Ensembl |
|
|
rs762604469 CA128107625 CA3421095 |
762 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774995886 CA3421094 |
763 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs774995886 CA361051202 |
763 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA128107610 rs1025447145 |
763 | R>S | No |
ClinGen Ensembl |
|
|
CA3421093 rs769554129 |
764 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA361051132 rs1298274827 |
769 | T>R | No |
ClinGen TOPMed |
|
|
CA3421090 rs770731652 |
773 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 773 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746909132 CA3421089 |
777 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3421088 rs541100865 |
778 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361051035 rs1466798171 |
779 | R>T | No |
ClinGen gnomAD |
|
|
rs1007589478 CA128101223 |
784 | M>K | No |
ClinGen Ensembl |
|
|
CA3421067 rs768651273 |
786 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3421068 rs370211277 |
786 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1339420253 CA361050546 |
790 | R>K | No |
ClinGen TOPMed |
|
|
rs780475287 CA3421065 |
791 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746305287 CA3421063 |
792 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3421062 rs781691338 |
793 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 796 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361050393 rs1329565684 |
798 | D>N | No |
ClinGen gnomAD |
|
|
CA361050307 rs1446407084 |
802 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs752027329 CA3421060 |
803 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752027329 CA361050281 |
803 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3421059 rs764760744 |
804 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388528217 CA361050211 |
806 | E>K | No |
ClinGen gnomAD |
|
|
CA3421058 rs754485386 |
807 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA361049767 rs767313749 |
808 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767313749 CA3421034 |
808 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128099338 rs868526545 |
811 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 814 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3421032 rs751504622 |
815 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA361049683 COSM1061079 COSM1061081 rs1405452944 |
820 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA361049682 rs1347360317 |
820 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1484601445 CA361049675 |
821 | Y>C | No |
ClinGen TOPMed |
|
|
CA128099330 rs1000396638 |
823 | L>F | No |
ClinGen Ensembl |
|
|
rs1296065644 CA361049601 |
828 | S>F | No |
ClinGen gnomAD |
|
|
rs764009360 CA361049597 |
829 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764009360 CA3421031 |
829 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160835655 CA361049585 |
830 | A>T | No |
ClinGen gnomAD |
|
|
rs1166938730 CA361049540 |
834 | L>P | No |
ClinGen TOPMed |
|
|
CA3421028 rs770012565 |
835 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs201400042 CA3421027 |
836 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776755335 CA3421026 |
837 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3421025 rs771303103 |
839 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA3421024 rs747388376 |
840 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 842 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3421021 rs748677264 |
843 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 843 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748677264 CA3421022 COSM1061076 COSM1061078 |
843 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748677264 CA361049451 |
843 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779500988 CA3421020 |
845 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA361049312 rs1173368432 |
855 | R>K | No |
ClinGen gnomAD |
|
|
CA3421018 rs750058935 |
855 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3421017 rs780768162 |
856 | V>M | No |
ClinGen ExAC gnomAD |
|
|
COSM448622 rs373082826 COSM448621 CA128099249 |
857 | N>K | breast [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA3421016 rs757074277 |
858 | K>N | No |
ClinGen ExAC |
|
|
rs751249702 CA3421015 |
860 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9HCX4
5 regional properties for Q9HCX4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Ankyrin repeat | 42 - 71 | IPR002110-1 |
| repeat | Ankyrin repeat | 77 - 105 | IPR002110-2 |
| repeat | Ankyrin repeat | 163 - 192 | IPR002110-3 |
| domain | Ion transport domain | 393 - 683 | IPR005821 |
| domain | Transient receptor ion channel domain | 198 - 260 | IPR013555 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cation channel complex | An ion channel complex through which cations pass. |
| cis-Golgi network | The network of interconnected tubular and cisternal structures located at the convex side of the Golgi apparatus, which abuts the endoplasmic reticulum. |
| 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. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium channel activity | Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| inositol 1,4,5 trisphosphate binding | Binding to inositol 1,4,5 trisphosphate. |
| store-operated calcium channel activity | A ligand-gated ion channel activity which transports calcium in response to emptying of intracellular calcium stores. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium ion transmembrane transport | A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| manganese ion transport | The directed movement of manganese (Mn) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of cytosolic calcium ion concentration | Any process involved in the maintenance of an internal steady state of calcium ions within the cytosol of a cell or between the cytosol and its surroundings. |
| single fertilization | The union of male and female gametes to form a zygote. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O18784 | TRPC1 | Short transient receptor potential channel 1 | Bos taurus (Bovine) | PR |
| P79100 | TRPC4 | Short transient receptor potential channel 4 | Bos taurus (Bovine) | PR |
| P19334 | trp | Transient receptor potential protein | Drosophila melanogaster (Fruit fly) | PR |
| P48994 | trpl | Transient-receptor-potential-like protein | Drosophila melanogaster (Fruit fly) | PR |
| Q13507 | TRPC3 | Short transient receptor potential channel 3 | Homo sapiens (Human) | PR |
| Q9Y210 | TRPC6 | Short transient receptor potential channel 6 | Homo sapiens (Human) | PR |
| P48995 | TRPC1 | Short transient receptor potential channel 1 | Homo sapiens (Human) | PR |
| Q9UL62 | TRPC5 | Short transient receptor potential channel 5 | Homo sapiens (Human) | PR |
| Q9UBN4 | TRPC4 | Short transient receptor potential channel 4 | Homo sapiens (Human) | PR |
| Q9QZC1 | Trpc3 | Short transient receptor potential channel 3 | Mus musculus (Mouse) | PR |
| Q9QUQ5 | Trpc4 | Short transient receptor potential channel 4 | Mus musculus (Mouse) | PR |
| Q9QX29 | Trpc5 | Short transient receptor potential channel 5 | Mus musculus (Mouse) | PR |
| Q61143 | Trpc6 | Short transient receptor potential channel 6 | Mus musculus (Mouse) | PR |
| Q9R244 | Trpc2 | Short transient receptor potential channel 2 | Mus musculus (Mouse) | PR |
| Q61056 | Trpc1 | Short transient receptor potential channel 1 | Mus musculus (Mouse) | PR |
| Q9WVC5 | Trpc7 | Short transient receptor potential channel 7 | Mus musculus (Mouse) | PR |
| Q9QX01 | Trpc1 | Short transient receptor potential channel 1 | Rattus norvegicus (Rat) | PR |
| O35119 | Trpc4 | Short transient receptor potential channel 4 | Rattus norvegicus (Rat) | PR |
| Q9JMI9 | Trpc3 | Short transient receptor potential channel 3 | Rattus norvegicus (Rat) | PR |
| Q9R283 | Trpc2 | Short transient receptor potential channel 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLRNSTFKNM | QRRHTTLREK | GRRQAIRGPA | YMFNEKGTSL | TPEEERFLDS | AEYGNIPVVR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KMLEESKTLN | FNCVDYMGQN | ALQLAVGNEH | LEVTELLLKK | ENLARVGDAL | LLAISKGYVR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IVEAILNHPA | FAQGQRLTLS | PLEQELRDDD | FYAYDEDGTR | FSHDITPIIL | AAHCQEYEIV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HILLLKGARI | ERPHDYFCKC | NECTEKQRKD | SFSHSRSRMN | AYKGLASAAY | LSLSSEDPVL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TALELSNELA | RLANIETEFK | NDYRKLSMQC | KDFVVGVLDL | CRDTEEVEAI | LNGDVNFQVW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SDHHRPSLSR | IKLAIKYEVK | KFVAHPNCQQ | QLLTMWYENL | SGLRQQSIAV | KFLAVFGVSI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GLPFLAIAYW | IAPCSKLGRT | LRSPFMKFVA | HAVSFTIFLG | LLVVNASDRF | EGVKTLPNET |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FTDYPKQIFR | VKTTQFSWTE | MLIMKWVLGM | IWSECKEIWE | EGPREYVLHL | WNLLDFGMLS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IFVASFTARF | MAFLKATEAQ | LYVDQHVQDD | TLHNVSLPPE | VAYFTYARDK | WWPSDPQIIS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EGLYAIAVVL | SFSRIAYILP | ANESFGPLQI | SLGRTVKDIF | KFMVIFIMVF | VAFMIGMFNL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| YSYYRGAKYN | PAFTTVEESF | KTLFWSIFGL | SEVISVVLKY | DHKFIENIGY | VLYGVYNVTM |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VVVLLNMLIA | MINNSYQEIE | EDADVEWKFA | RAKLWLSYFD | EGRTLPAPFN | LVPSPKSFYY |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LIMRIKMCLI | KLCKSKAKSC | ENDLEMGMLN | SKFKKTRYQA | GMRNSENLTA | NNTLSKPTRY |
| 790 | 800 | 810 | 820 | 830 | 840 |
| QKIMKRLIKR | YVLKAQVDRE | NDEVNEGELK | EIKQDISSLR | YELLEEKSQA | TGELADLIQQ |
| 850 | 860 | ||||
| LSEKFGKNLN | KDHLRVNKGK | DI |