Q14693
PR
Gene name |
LPIN1 |
Protein name |
Phosphatidate phosphatase LPIN1 |
Names |
Lipin-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23175 |
EC number |
3.1.3.4: Phosphoric monoester hydrolases |
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 Q14693
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q14693-F1 | Predicted | AlphaFoldDB |
780 variants for Q14693
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002521267 CA1533335 RCV000276432 rs774490262 COSM180927 |
37 | R>H | Myoglobinuria, acute recurrent, autosomal recessive large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1533338 rs149819112 RCV003168497 RCV000315110 RCV001859958 |
40 | N>S | Myoglobinuria, acute recurrent, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886054796 CA10611899 RCV000367401 |
42 | N>D | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1533348 RCV001135186 rs766980528 |
51 | R>H | Myoglobinuria, acute recurrent, autosomal recessive Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001328647 CA1533428 RCV002546269 rs201744351 |
145 | T>M | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001130149 rs1165035642 CA345853042 |
175 | T>I | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs370440936 RCV000380031 RCV000523572 CA1533472 |
206 | P>A | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000005192 CA117139 rs119480071 |
215 | E>* | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10610665 RCV000321734 rs886054797 |
230 | P>S | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs568970987 CA1533485 RCV001859959 RCV000383344 |
232 | S>L | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001130856 RCV001759892 rs141555457 CA1533529 |
249 | T>K | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000995801 rs1572770217 |
279 | P>missing | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000247627 rs149564563 RCV002227111 RCV000955905 RCV000343678 |
286 | S>missing | Myoglobinuria, acute recurrent, autosomal recessive Acute Recurrent Myoglobinuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs146529487 CA1533633 RCV000960465 RCV000351789 |
373 | Q>E | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA117141 RCV000760456 RCV000005193 rs119480072 |
388 | R>* | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000779277 rs1558903736 RCV001092530 |
420 | P>missing | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000355477 rs33997857 CA1533758 RCV002058412 RCV000252145 |
494 | V>M | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1533803 RCV001133828 RCV002556868 rs761610281 |
519 | A>T | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000950078 RCV000249108 RCV001135319 CA1533842 rs148499322 |
541 | I>V | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10611920 rs886054799 RCV000401385 |
561 | N>S | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1533853 rs758794799 RCV001135320 |
563 | T>A | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA1533883 RCV001732050 rs146100011 CA1533882 RCV001135321 |
582 | G>R | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV002546268 CA1533884 RCV001328646 rs144102076 RCV001871795 |
585 | P>L | Myoglobinuria, acute recurrent, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001135323 CA1533929 rs145021638 RCV000967711 |
605 | R>H | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000354981 RCV001859961 rs200394034 CA1533931 |
606 | A>T | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002058413 RCV000267070 rs4669781 CA1533936 RCV000246076 VAR_013885 |
610 | P>S | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001130279 RCV001856691 CA1533945 rs146048019 |
622 | V>I | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1678292863 RCV001130280 |
641 | K>M | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1572931008 RCV000824909 |
657 | G>missing | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1678319978 RCV001130283 |
681 | G>V | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1534020 rs767607996 RCV001130284 |
687 | D>G | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs369135035 RCV001249734 CA1534030 |
704 | G>D | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1534072 rs149307854 RCV001873523 RCV002556832 RCV001130285 |
745 | T>M | Myoglobinuria, acute recurrent, autosomal recessive Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs774737339 CA1534083 RCV000358200 |
762 | A>D | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs771205777 RCV001130993 CA1534103 |
769 | E>G | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA117143 RCV000760457 rs119480073 RCV000005194 |
801 | R>* | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA345859985 rs1573030522 RCV000824910 |
804 | D>H | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs758717162 RCV001130994 CA1534139 |
834 | T>S | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1534172 rs202129194 RCV001130995 |
856 | S>C | Myoglobinuria, acute recurrent, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA42590829 rs111943416 |
2 | N>D | No |
ClinGen Ensembl |
|
|
rs1234665809 CA345851065 |
2 | N>S | No |
ClinGen gnomAD |
|
|
CA1533321 rs367756216 |
4 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345851104 rs1489431371 |
6 | Q>P | No |
ClinGen gnomAD |
|
|
rs767497900 CA1533322 |
7 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA345851126 rs1558844149 |
8 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 9 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345851132 COSM1305586 rs1368552319 |
9 | G>S | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA1533324 rs760793370 |
11 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1572678191 CA345851182 |
14 | T>P | No |
ClinGen Ensembl |
|
|
CA1533326 rs199755819 |
15 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA345851212 rs1408257270 |
17 | E>K | No |
ClinGen TOPMed |
|
|
CA42590880 rs897485644 |
18 | L>F | No |
ClinGen Ensembl |
|
|
CA1533328 rs779340138 |
18 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1381937847 CA345851251 |
20 | K>R | No |
ClinGen gnomAD |
|
|
COSM1685864 CA345851298 rs1396919151 |
24 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs150673063 CA345851301 |
25 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1533331 rs150673063 |
25 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345851323 rs1328531926 |
27 | L>P | No |
ClinGen gnomAD |
|
|
CA345851342 rs1393676882 |
30 | C>G | No |
ClinGen TOPMed |
|
|
rs768193519 CA1533333 |
33 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1180882136 CA345851390 |
34 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 35 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1533334 rs780938311 |
37 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533336 rs774490262 |
37 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774490262 CA345851416 |
37 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533337 rs773246184 |
39 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 41 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1533339 rs770957587 |
42 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345851503 rs1345572623 |
45 | C>R | No |
ClinGen TOPMed |
|
|
rs548598168 CA42590978 |
46 | S>F | No |
ClinGen 1000Genomes |
|
|
CA1533343 rs764196018 |
47 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs764196018 CA1533342 |
47 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA345851525 rs760849217 |
47 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1533341 rs760849217 |
47 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1533344 rs762123681 |
48 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA1533345 rs77956802 |
48 | F>L | No |
ClinGen 1000Genomes ExAC |
|
|
rs1344457697 CA345851567 |
50 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1533347 rs758821832 |
51 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 54 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345851659 rs1221377110 |
55 | M>T | No |
ClinGen gnomAD |
|
|
CA345851653 rs1332568835 |
55 | M>V | No |
ClinGen gnomAD |
|
| VAR_035874 | 56 | G>E | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs1376020274 CA345851685 |
57 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1572679571 CA345851689 |
57 | V>G | No |
ClinGen Ensembl |
|
|
rs1389960278 CA345851693 |
58 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA345851709 rs1306580224 |
59 | R>C | No |
ClinGen gnomAD |
|
|
COSM180928 CA1533349 rs140179571 |
59 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1533350 rs140179571 |
59 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1690207 rs747835893 CA1533352 |
61 | R>* | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs755913999 CA1533353 |
61 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1533354 rs777696552 |
62 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA345851763 rs1572679823 |
63 | K>E | No |
ClinGen Ensembl |
|
|
rs1172234877 CA345852058 |
66 | D>G | No |
ClinGen gnomAD |
|
|
CA345852063 rs1394823879 |
67 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs142456002 CA1533378 |
68 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776683026 CA1533379 |
70 | N>H | No |
ClinGen ExAC |
|
|
rs1161491750 CA345852086 |
70 | N>S | No |
ClinGen gnomAD |
|
|
CA345852093 rs1486605620 |
71 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 72 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA42592887 rs573864869 |
72 | E>K | No |
ClinGen gnomAD |
|
|
rs769976876 CA1533381 |
77 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA345852134 rs769976876 |
77 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs182735664 CA1533382 |
78 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 79 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA42592904 rs987368907 |
82 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1533386 rs760073460 |
84 | G>R | No |
ClinGen ExAC |
|
|
CA42592947 rs774965474 |
85 | E>* | No |
ClinGen TOPMed |
|
|
CA345852197 rs1223941704 |
86 | A>V | No |
ClinGen gnomAD |
|
|
rs1287794681 CA345852208 |
88 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 88 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA42592959 rs1039422414 |
89 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345852234 rs1274494282 |
91 | E>D | No |
ClinGen gnomAD |
|
|
rs1470250159 CA345852246 |
93 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 94 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1533388 rs552605231 |
94 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1447787468 CA345852269 |
96 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 97 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255274270 CA345852296 |
98 | V>A | No |
ClinGen TOPMed |
|
|
CA1533404 rs759857884 |
98 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1474246398 CA345852303 |
99 | I>S | No |
ClinGen gnomAD |
|
|
CA1533405 rs772683752 |
101 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs894489248 CA42595831 |
102 | H>R | No |
ClinGen Ensembl |
|
|
CA345852331 rs1411579518 |
104 | A>T | No |
ClinGen gnomAD |
|
|
rs1326686059 CA345852339 |
105 | T>A | No |
ClinGen gnomAD |
|
|
rs1353683622 CA345852352 |
107 | P>R | No |
ClinGen gnomAD |
|
|
rs1314287575 CA345852355 |
108 | I>L | No |
ClinGen gnomAD |
|
|
rs753370614 CA1533409 |
109 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533410 rs761510842 |
112 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA1533411 rs138781941 |
114 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758238408 CA1533413 |
116 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345852427 rs1302733301 |
116 | M>R | No |
ClinGen TOPMed |
|
| TCGA novel | 117 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211908375 CA345852463 |
119 | Q>R | No |
ClinGen gnomAD |
|
|
rs779922431 CA1533414 |
123 | G>S | No |
ClinGen ExAC |
|
|
CA42595857 rs1033143945 |
124 | S>F | No |
ClinGen Ensembl |
|
|
CA1533415 rs751532897 |
127 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs756123255 CA1533416 |
129 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1533417 rs777924210 |
131 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1383632767 CA345852609 |
133 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA345852622 rs1418565429 |
134 | S>T | No |
ClinGen gnomAD |
|
|
CA345852628 rs1435029331 |
135 | T>A | No |
ClinGen gnomAD |
|
|
CA1533420 COSM1399004 rs757466722 |
135 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1184911191 CA345852642 |
136 | P>L | No |
ClinGen TOPMed |
|
|
rs779049696 CA1533421 |
138 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 140 | I>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1533422 rs143971255 |
140 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA345852687 rs747531487 |
141 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533425 rs747531487 |
141 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA42595949 rs373506318 |
142 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA1533427 rs776202108 |
144 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345852713 rs776202108 |
144 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371419134 CA1533430 COSM1481882 |
146 | P>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA345852793 rs1312692541 |
152 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 153 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754899623 CA1533435 |
158 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA42596019 rs931162601 |
162 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 162 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1533436 rs767391971 |
166 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs767391971 CA1533437 |
166 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs757303423 CA42596073 |
169 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs757303423 CA1533438 |
169 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs779151554 CA1533439 |
170 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA42596080 rs929119373 |
173 | M>L | No |
ClinGen TOPMed |
|
|
rs530487700 CA1533441 |
174 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345853067 rs1306139803 |
178 | D>N | No |
ClinGen gnomAD |
|
|
CA1533444 rs769176403 |
178 | D>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747646486 CA1533446 |
179 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs376242415 CA1533447 |
180 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200284114 CA1533448 |
181 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345853116 rs1424576577 |
182 | F>V | No |
ClinGen gnomAD |
|
|
CA1533449 rs762611185 |
183 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA345853127 rs1468889368 |
183 | P>T | No |
ClinGen gnomAD |
|
|
CA345853137 rs766080987 |
184 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs766080987 CA1533450 |
184 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA345853144 rs1182089080 COSM1005877 |
185 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs759372275 CA1533451 |
187 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs200121985 CA1533452 |
188 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1462476105 CA345853200 |
189 | D>E | No |
ClinGen gnomAD |
|
|
CA42596174 rs937896136 |
189 | D>G | No |
ClinGen gnomAD |
|
|
CA345853232 rs1392740086 |
192 | M>R | No |
ClinGen gnomAD |
|
|
CA345853230 rs1392740086 |
192 | M>T | No |
ClinGen gnomAD |
|
|
CA1533455 rs765244673 |
195 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1308137197 CA345853271 |
196 | E>V | No |
ClinGen gnomAD |
|
|
CA345853285 rs1337824674 |
197 | S>N | No |
ClinGen gnomAD |
|
|
rs1041144109 CA345853307 |
199 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
CA42596186 rs1041144109 |
199 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs770545834 CA42597854 |
204 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA1533471 rs770545834 |
204 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA42597866 rs906857030 |
205 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA345853991 rs1289803113 |
205 | I>V | No |
ClinGen Ensembl |
|
|
CA345854005 rs370440936 |
206 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147349064 COSM110276 CA42597887 |
207 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs771764374 CA1533474 |
208 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 209 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 210 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185243137 CA345854080 |
211 | D>V | No |
ClinGen gnomAD |
|
|
CA1533475 rs775439644 |
212 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760516112 CA1533476 |
213 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 215 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1533478 rs750497679 |
216 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs373211816 CA42597931 |
217 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 220 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766661861 CA1533480 |
220 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs751861607 CA1533481 |
220 | A>V | No |
ClinGen ExAC |
|
|
rs201134176 CA1533482 |
221 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345854218 rs1205811825 |
222 | I>V | No |
ClinGen TOPMed |
|
|
CA345854238 RCV000722575 rs1558871594 |
223 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1205792519 CA345854235 |
223 | Y>C | No |
ClinGen gnomAD |
|
|
CA345854246 rs1485570579 |
224 | P>R | No |
ClinGen TOPMed |
|
|
CA42597952 rs773857318 |
225 | Q>L | No |
ClinGen Ensembl |
|
|
rs773857318 CA42597949 |
225 | Q>R | No |
ClinGen Ensembl |
|
|
rs1216089720 CA345854268 |
226 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs781427329 CA1533483 |
227 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs753166567 CA1533484 |
228 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA345854280 rs1335989504 |
228 | S>P | No |
ClinGen TOPMed |
|
|
rs770455665 CA1533488 |
233 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1533489 rs778466664 |
234 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778466664 CA345854346 |
234 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345854351 rs1382134422 |
235 | E>Q | No |
ClinGen TOPMed |
|
|
CA345854365 rs1280771740 |
236 | W>R | No |
ClinGen gnomAD |
|
|
rs1295284626 CA345854395 |
238 | P>L | No |
ClinGen TOPMed |
|
|
rs1208248602 CA345854405 |
239 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1208248602 CA345854402 |
239 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs771814026 CA1533491 |
241 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345855145 rs1368101828 |
244 | G>D | No |
ClinGen TOPMed |
|
|
COSM475846 rs367859334 CA1533528 |
244 | G>S | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000444623 rs1057524331 CA16603852 |
245 | S>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA42601790 rs941739314 |
246 | R>* | No |
ClinGen Ensembl |
|
|
rs781125211 CA1533530 |
251 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 252 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1533531 rs748026542 |
253 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1533532 rs371732049 |
257 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1533535 rs772194249 |
259 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345855305 rs1446500002 |
260 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1446500002 CA345855301 |
260 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA42601847 rs947818302 |
263 | R>M | No |
ClinGen TOPMed |
|
|
rs760870238 CA1533537 |
264 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1216748279 CA345855350 |
265 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1533539 rs776949429 |
266 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA1533542 rs765611859 |
269 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1533541 rs765611859 |
269 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1273516632 CA345855419 |
271 | M>T | No |
ClinGen gnomAD |
|
|
rs1440736307 CA345855447 |
273 | W>C | No |
ClinGen gnomAD |
|
|
rs1572769925 CA345855438 |
273 | W>G | No |
ClinGen Ensembl |
|
|
CA42601885 rs757007907 |
274 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533544 rs757007907 |
274 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476347603 CA345855466 |
275 | W>* | No |
ClinGen gnomAD |
|
|
CA345855460 rs1572770066 |
275 | W>G | No |
ClinGen Ensembl |
|
|
CA345855490 rs1572770147 |
277 | E>D | No |
ClinGen Ensembl |
|
|
rs1398114512 CA345855482 |
277 | E>Q | No |
ClinGen TOPMed |
|
|
rs781033652 CA1533547 |
280 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA345855539 rs752521580 |
283 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399440510 CA345855547 |
283 | K>N | No |
ClinGen gnomAD |
|
|
rs752521580 CA1533548 |
283 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345856030 rs1572786206 |
284 | S>C | No |
ClinGen Ensembl |
|
|
CA345856038 rs1224978094 |
285 | S>Y | No |
ClinGen TOPMed |
|
|
CA1533572 rs150085274 |
287 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1533573 rs757186691 |
291 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs778765378 CA1533574 |
291 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs747039849 CA1533575 |
292 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1331269315 CA345856142 |
295 | P>S | No |
ClinGen gnomAD |
|
|
rs769969000 CA1533579 |
299 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA345856210 rs1215404790 |
301 | I>V | No |
ClinGen gnomAD |
|
|
rs1264964683 CA345856245 |
304 | K>T | No |
ClinGen gnomAD |
|
|
CA345856254 rs1450732028 |
305 | S>G | No |
ClinGen gnomAD |
|
|
rs773623670 CA1533580 |
305 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1005881 rs763271063 CA1533581 |
305 | S>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA345856266 rs775023207 |
306 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533583 rs775023207 |
306 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533582 rs148797102 |
306 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1533585 rs545745697 |
307 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA42603592 rs756090516 |
311 | H>L | No |
ClinGen Ensembl |
|
|
rs775192884 CA1533587 |
312 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs375530084 CA1533589 |
313 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA42603598 rs200957716 |
315 | S>L | No |
ClinGen 1000Genomes |
|
|
rs1408139549 CA345856386 |
317 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA345856400 rs765117462 |
318 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA1533592 rs765117462 |
318 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs757023465 CA1533591 |
318 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246871583 CA345856417 |
319 | S>R | No |
ClinGen gnomAD |
|
|
rs750366316 CA1533593 |
320 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1481862411 CA345856468 |
324 | T>I | No |
ClinGen gnomAD |
|
|
CA345856474 rs1572787564 |
325 | L>P | No |
ClinGen Ensembl |
|
|
rs748244435 CA1533596 |
325 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533599 rs749618969 |
326 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772769377 CA345856492 |
327 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772769377 CA1533603 |
327 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774937420 CA1533602 |
327 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774937420 CA1533601 |
327 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328814734 CA345856504 |
328 | G>V | No |
ClinGen TOPMed |
|
|
CA1533604 rs775105002 |
333 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs760152186 CA1533605 |
334 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533606 rs774861372 |
334 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533610 rs141438400 |
338 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001092529 rs1673720739 |
341 | Q>* | No |
ClinVar dbSNP |
|
|
rs1470216551 CA345856640 |
344 | N>S | No |
ClinGen TOPMed |
|
|
rs758329956 CA1533611 |
345 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA345856655 rs1231774511 |
346 | E>A | No |
ClinGen TOPMed |
|
|
rs374756350 CA345856666 |
347 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs954246999 CA345856668 |
348 | L>M | No |
ClinGen TOPMed |
|
|
rs1232731798 CA345856671 |
348 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 349 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA42603701 rs897025261 |
349 | E>V | No |
ClinGen Ensembl |
|
|
CA345856684 rs752802651 |
350 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533613 rs752802651 |
350 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139309141 CA1533614 CA345856690 |
351 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345856693 rs1203932172 |
352 | G>R | No |
ClinGen gnomAD |
|
|
CA1533615 rs146730746 |
353 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 354 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369351154 CA1533617 |
355 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1533618 rs779413969 |
356 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779413969 CA1533619 |
356 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533622 rs372929623 |
359 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376390042 CA1533623 CA1533624 |
360 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345856739 rs1440728352 |
360 | M>T | No |
ClinGen TOPMed |
|
|
CA42603742 rs761359674 |
361 | I>M | No |
ClinGen ExAC TOPMed |
|
|
rs1428090743 CA345856749 |
362 | E>* | No |
ClinGen gnomAD |
|
|
rs1428090743 CA345856750 |
362 | E>Q | No |
ClinGen gnomAD |
|
|
rs1002583944 CA42603745 |
365 | K>N | No |
ClinGen TOPMed |
|
|
CA345856778 rs1168153725 |
366 | P>A | No |
ClinGen gnomAD |
|
|
CA1533627 rs769504834 |
366 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA1533629 rs185471985 |
367 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1533628 rs185471985 |
367 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs944231278 CA42603752 |
367 | P>S | No |
ClinGen TOPMed |
|
| rs745547203 | 368 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401494832 CA345856787 |
368 | S>P | No |
ClinGen gnomAD |
|
|
rs751486963 CA1533631 |
370 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345856800 rs988910572 |
370 | S>N | No |
ClinGen TOPMed |
|
|
CA42603762 rs988910572 |
370 | S>T | No |
ClinGen TOPMed |
|
|
rs914064641 CA42603765 |
374 | T>A | No |
ClinGen gnomAD |
|
|
rs966907026 CA42603769 |
376 | N>D | No |
ClinGen Ensembl |
|
|
rs754012602 CA1533634 COSM3836680 COSM3836679 |
378 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1533636 rs562089854 |
379 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750765543 CA1533637 |
380 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs529908361 CA1533638 |
383 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345856887 rs1209854509 |
384 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 386 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351355141 CA345857020 |
387 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs115521500 CA1533658 |
388 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755410387 CA1533659 |
389 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781748056 CA1533660 |
390 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs747610587 CA1533661 COSM180932 |
390 | R>Q | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs901370069 CA42604558 |
393 | G>D | No |
ClinGen Ensembl |
|
|
rs769327010 CA1533662 |
394 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748955589 CA1533665 |
396 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1246402337 COSM1005882 CA345857109 |
397 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1163931665 CA345857124 |
398 | Y>C | No |
ClinGen TOPMed |
|
|
rs1421352572 CA345857147 |
400 | D>G | No |
ClinGen TOPMed |
|
|
CA42604587 rs910366189 |
401 | D>N | No |
ClinGen TOPMed |
|
|
CA1533669 rs771852415 |
405 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs767791222 CA1533668 |
405 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs559066390 CA1533671 |
410 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1572798138 CA345857266 |
411 | A>G | No |
ClinGen Ensembl |
|
|
rs773483669 CA345857273 |
412 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773483669 CA1533673 |
412 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533674 rs763263996 |
413 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 416 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000373103 rs886041544 |
419 | D>missing | No |
ClinVar dbSNP |
|
|
rs1466039225 CA345857346 |
419 | D>V | No |
ClinGen gnomAD |
|
|
rs950339269 CA42605477 |
420 | P>R | No |
ClinGen Ensembl |
|
|
rs1186423953 CA345857359 |
421 | S>F | No |
ClinGen gnomAD |
|
|
rs1331134396 CA345857360 |
422 | G>R | No |
ClinGen TOPMed |
|
|
rs779990495 CA345857369 |
423 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs779990495 CA1533705 |
423 | L>P | No |
ClinGen ExAC gnomAD |
|
|
COSM269510 CA1533706 rs746840869 |
424 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs571532101 CA1533707 |
424 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1533708 rs185891077 |
426 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1533710 rs771049586 |
427 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs749289176 CA345857391 |
427 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749289176 CA1533709 |
427 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345857393 rs771049586 |
427 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs774381690 CA1533711 |
428 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774381690 CA345857397 |
428 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 429 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759793835 CA1533712 |
430 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1234211528 CA345857416 |
431 | G>R | No |
ClinGen gnomAD |
|
|
CA345857423 rs866027062 |
432 | A>P | No |
ClinGen gnomAD |
|
|
CA42605523 rs866027062 |
432 | A>T | No |
ClinGen gnomAD |
|
|
CA1533713 rs772350717 |
433 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345857429 rs772350717 |
433 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558904203 CA345857428 |
433 | R>W | No |
ClinGen Ensembl |
|
|
rs1268753673 CA345857436 |
434 | S>L | No |
ClinGen gnomAD |
|
|
rs775805035 CA1533714 |
435 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761047995 CA1533715 |
436 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1247157666 CA345857450 |
437 | Q>K | No |
ClinGen gnomAD |
|
|
rs1457081840 CA345857453 |
437 | Q>R | No |
ClinGen TOPMed |
|
|
TCGA novel CA345857475 rs1424021071 |
440 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA42605550 rs892852912 |
441 | S>L | No |
ClinGen Ensembl |
|
|
rs1244479824 CA345857483 |
442 | V>L | No |
ClinGen gnomAD |
|
|
rs754372493 CA1533717 |
444 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA345857497 rs754372493 |
444 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA345857506 rs1468370901 |
445 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1159243181 CA345857502 |
445 | S>P | No |
ClinGen gnomAD |
|
|
CA1533719 rs764790584 |
447 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1170613238 CA345857537 |
450 | G>D | No |
ClinGen gnomAD |
|
|
CA345857543 rs1572808478 |
451 | V>A | No |
ClinGen Ensembl |
|
|
rs1401223367 CA345857542 |
451 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1007333143 CA42605566 |
453 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 454 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208002278 CA345857566 |
454 | T>I | No |
ClinGen TOPMed |
|
|
rs758039218 CA42605582 |
456 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533720 rs190743128 |
456 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1039266461 CA42605571 |
456 | D>N | No |
ClinGen TOPMed |
|
|
rs1330768960 CA345857578 |
457 | G>R | No |
ClinGen gnomAD |
|
|
rs1329435219 CA345857602 |
460 | D>E | No |
ClinGen gnomAD |
|
|
rs1325705561 CA345857601 |
460 | D>G | No |
ClinGen gnomAD |
|
|
rs779902634 CA1533722 |
461 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404479167 CA345857606 |
461 | L>V | No |
ClinGen gnomAD |
|
|
CA1533723 rs751352414 |
462 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 464 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754853778 CA1533724 |
464 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs146965963 CA345857629 |
465 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1356740292 CA345857628 |
465 | A>S | No |
ClinGen gnomAD |
|
|
rs146965963 CA1533725 |
465 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1553434006 CA531314671 |
469 | C>* | No |
ClinGen gnomAD |
|
|
CA1533729 CA1533728 rs201046262 |
470 | G>R | No |
ClinGen ExAC |
|
|
CA1533731 rs772229823 |
471 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA345857662 rs1363612986 |
471 | G>S | No |
ClinGen gnomAD |
|
|
rs1388936071 CA345857668 |
472 | L>F | No |
ClinGen gnomAD |
|
|
rs1230541535 CA345857674 |
473 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA345857676 rs1383337906 |
473 | S>N | No |
ClinGen TOPMed |
|
|
rs775717145 CA1533732 |
474 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs760960301 CA345857696 |
476 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA42605614 rs878952876 |
476 | R>Q | No |
ClinGen TOPMed |
|
|
rs760960301 CA1533733 |
476 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345857705 rs1306141601 |
477 | E>D | No |
ClinGen gnomAD |
|
|
rs867989034 CA42605616 |
477 | E>Q | No |
ClinGen Ensembl |
|
|
CA345857712 rs1340968307 |
478 | I>M | No |
ClinGen gnomAD |
|
|
CA345857713 rs1340458266 |
479 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1533734 rs769020213 |
479 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345857716 rs769020213 |
479 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345857740 rs1378216409 |
481 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA345857741 rs1378216409 |
481 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA345857745 rs1308524425 |
482 | A>P | No |
ClinGen TOPMed |
|
|
rs1308524425 CA345857744 |
482 | A>T | No |
ClinGen TOPMed |
|
|
rs886038731 CA10586749 RCV000249019 |
482 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1533756 rs770287162 |
484 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs940108306 CA42606936 |
486 | Q>H | No |
ClinGen TOPMed |
|
|
rs1337170137 CA345857781 |
487 | A>D | No |
ClinGen TOPMed |
|
|
CA345857780 rs1337170137 |
487 | A>V | No |
ClinGen TOPMed |
|
|
rs773625268 CA1533757 |
490 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1171013095 CA345857809 |
492 | Q>* | No |
ClinGen TOPMed |
|
|
rs1553435063 RCV000519813 CA345857813 |
492 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA42606959 rs33997857 |
494 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA42606960 rs370659392 |
495 | D>G | No |
ClinGen ESP gnomAD |
|
|
rs201940484 CA1533759 |
496 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774065861 CA1533760 |
497 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs746711531 CA1533762 |
498 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA345857848 rs746711531 |
498 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1533764 rs755888748 |
500 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753784858 CA1533766 |
501 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA345857868 rs1323413182 |
501 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1323413182 CA345857866 |
501 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs780101901 CA1533768 |
502 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA1533769 rs192272279 |
504 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1533770 rs368405067 |
505 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748507027 CA1533772 |
506 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179402702 CA345857913 |
508 | K>R | No |
ClinGen Ensembl |
|
|
CA1533773 rs770059829 |
509 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345857924 rs1457695366 |
510 | G>R | No |
ClinGen gnomAD |
|
|
rs778281949 CA1533793 |
512 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1533774 rs773713628 |
512 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA1533794 rs200882793 |
513 | Y>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771546675 CA1533795 |
514 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1000174446 CA42607933 |
514 | Y>D | No |
ClinGen TOPMed |
|
|
CA1533796 rs771546675 |
514 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533797 rs751535374 |
515 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768423865 CA1533801 |
516 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775121925 CA1533800 |
516 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs768423865 CA345858099 |
516 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533798 rs771492647 |
516 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775121925 CA1533799 |
516 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1231146825 CA345858121 |
518 | T>A | No |
ClinGen gnomAD |
|
|
CA42607969 rs149418803 |
520 | A>T | No |
ClinGen ESP |
|
|
CA1533804 rs765092602 |
521 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533805 rs765092602 |
521 | P>L | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs918384181 CA42608010 |
522 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 522 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278731543 CA345858215 |
526 | M>I | No |
ClinGen TOPMed |
|
|
rs1442398244 CA345858201 |
526 | M>L | No |
ClinGen gnomAD |
|
|
CA345858203 rs1442398244 |
526 | M>V | No |
ClinGen gnomAD |
|
|
rs1162487610 CA345858221 |
527 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1382084636 CA345858229 |
527 | Q>H | No |
ClinGen TOPMed |
|
|
CA345858217 rs1162487610 |
527 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA345858250 rs1390275824 |
529 | F>L | No |
ClinGen gnomAD |
|
|
rs1363716402 CA345850015 |
536 | A>D | No |
ClinGen gnomAD |
|
|
CA345850010 rs1305042579 |
536 | A>T | No |
ClinGen gnomAD |
|
|
rs148499322 CA345850070 |
541 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148499322 CA1533843 |
541 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370314515 CA42566493 |
542 | M>I | No |
ClinGen ESP gnomAD |
|
|
CA42566503 rs371768121 |
543 | R>G | No |
ClinGen Ensembl |
|
|
rs774345924 CA1533846 |
544 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1533845 rs749162424 |
544 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs749162424 CA1533844 |
544 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA42566524 rs760626676 |
548 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533849 rs764250252 |
548 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1533847 rs760626676 |
548 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533850 rs762124849 |
549 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288998802 CA345850186 |
550 | G>R | No |
ClinGen gnomAD |
|
|
CA1533851 rs765615003 |
553 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765615003 CA345850234 |
553 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253218777 CA345850254 |
555 | F>L | No |
ClinGen gnomAD |
|
|
CA42566536 rs778569015 |
558 | R>S | No |
ClinGen Ensembl |
|
|
CA42566551 rs745616204 |
559 | G>* | No |
ClinGen Ensembl |
|
|
CA345850407 rs1363523541 |
562 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 564 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs988428098 CA42566573 |
564 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs922065314 CA42566575 |
565 | K>Q | No |
ClinGen Ensembl |
|
|
CA1533875 rs751908811 |
567 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345851577 rs1297101591 |
570 | P>S | No |
ClinGen gnomAD |
|
|
CA345851615 rs1305213052 |
572 | Q>* | No |
ClinGen gnomAD |
|
|
CA345851611 rs1305213052 |
572 | Q>E | No |
ClinGen gnomAD |
|
|
CA345851621 rs1382644068 |
572 | Q>P | No |
ClinGen TOPMed |
|
|
CA345851646 rs1179804012 |
573 | C>Y | No |
ClinGen TOPMed |
|
|
rs760030291 CA1533876 |
575 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs552130056 CA1533877 |
575 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1206036156 CA345851702 |
576 | G>S | No |
ClinGen gnomAD |
|
|
rs752141167 CA1533878 |
576 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1267767487 CA345851731 |
577 | K>M | No |
ClinGen gnomAD |
|
|
CA345851750 rs1461041127 |
578 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs777246617 CA1533880 |
580 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1572879077 CA345851862 |
584 | Q>H | No |
ClinGen Ensembl |
|
|
CA1533886 rs200474475 |
586 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310713346 CA345851888 |
587 | Q>E | No |
ClinGen TOPMed |
|
|
CA1533889 rs773212266 |
590 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA345851953 rs1159672952 |
592 | T>S | No |
ClinGen TOPMed |
|
|
CA345851963 rs1301350811 |
593 | R>T | No |
ClinGen gnomAD |
|
|
rs1572920982 CA345853596 |
594 | V>G | No |
ClinGen Ensembl |
|
|
CA1533922 rs139638471 |
595 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145608684 COSM1527661 CA1533923 |
595 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1533921 rs139638471 |
595 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1241797572 CA345853613 |
596 | H>N | No |
ClinGen TOPMed |
|
|
CA345853620 rs1371574952 |
596 | H>R | No |
ClinGen gnomAD |
|
|
CA345853632 rs1223449658 |
597 | E>K | No |
ClinGen gnomAD |
|
|
CA345853715 rs1308013527 |
603 | E>K | No |
ClinGen gnomAD |
|
|
COSM1129599 rs1230985282 CA345853749 |
605 | R>C | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 605 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345853761 rs200394034 |
606 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533932 rs200394034 |
606 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533933 rs777037876 |
608 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA345853783 rs777037876 |
608 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1419523049 CA345853803 |
609 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs549344167 CA1533938 |
611 | S>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM3406819 CA1533940 rs375865167 COSM3406820 |
613 | A>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1158323231 CA345853830 |
614 | G>S | No |
ClinGen TOPMed |
|
|
CA345853841 rs1370010598 |
615 | H>L | No |
ClinGen TOPMed |
|
|
rs1314503386 CA345853836 |
615 | H>N | No |
ClinGen gnomAD |
|
|
CA345853839 rs1370010598 |
615 | H>P | No |
ClinGen TOPMed |
|
|
rs113391634 COSM3565698 CA42576964 COSM3565699 |
617 | P>S | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA345853857 rs1362691901 |
618 | L>F | No |
ClinGen gnomAD |
|
|
rs1423555550 CA345853870 |
620 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 620 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345853876 rs528101763 |
621 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200704636 CA1533944 |
621 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1533942 rs528101763 |
621 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780262395 CA1533947 |
624 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533946 rs758561487 |
624 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA345853930 rs1182555127 |
625 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1533948 rs768074360 |
625 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1533949 rs768927092 |
627 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286333719 CA345853979 |
627 | T>I | No |
ClinGen TOPMed |
|
|
rs748573552 CA1533951 |
629 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781657446 CA1533950 |
629 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA1533952 rs770489858 |
632 | S>P | No |
ClinGen ExAC |
|
|
rs181949396 CA1533954 |
633 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1533955 rs770637306 |
634 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA345854142 rs1468452901 |
635 | L>P | No |
ClinGen gnomAD |
|
|
rs770584178 CA1533973 |
637 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1359935082 CA345854969 |
637 | S>R | No |
ClinGen gnomAD |
|
|
VAR_054878 CA42578310 rs17852755 |
637 | S>T | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA345854975 rs1405507204 |
638 | L>F | No |
ClinGen gnomAD |
|
|
rs773956992 CA1533974 |
639 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1343528352 CA345855005 |
642 | N>K | No |
ClinGen gnomAD |
|
|
rs1572930774 CA345855010 |
643 | G>D | No |
ClinGen Ensembl |
|
|
rs759076614 CA1533975 |
644 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345855025 rs372109726 |
645 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345855022 rs1352405353 |
645 | N>S | No |
ClinGen gnomAD |
|
|
CA1533977 rs566760101 |
646 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770404514 CA1533979 |
647 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770404514 CA1533980 |
647 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271767054 CA345855053 |
650 | S>N | No |
ClinGen gnomAD |
|
|
rs1364674031 CA345855075 |
653 | T>M | No |
ClinGen gnomAD |
|
|
CA345855089 rs1419728642 |
655 | Y>* | No |
ClinGen Ensembl |
|
|
CA1533987 rs756575367 |
655 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1379887925 CA345855094 |
656 | Q>R | No |
ClinGen gnomAD |
|
|
rs778372334 CA1533988 |
657 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA345855102 rs778372334 |
657 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1533989 rs749786229 |
658 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345855104 rs1232848377 |
658 | T>P | No |
ClinGen TOPMed |
|
|
rs1386082845 CA345855116 |
659 | C>Y | No |
ClinGen gnomAD |
|
|
CA1533991 rs778277029 COSM180935 |
660 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1533992 rs745398954 |
660 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs745398954 CA1533993 |
660 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1477453517 CA345855150 |
661 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775242840 CA1533994 |
661 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144054506 CA1533995 |
665 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1533997 rs372697054 |
666 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1277764833 CA345855329 |
670 | W>C | No |
ClinGen TOPMed |
|
|
rs761736815 CA1533998 |
673 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1439964420 CA345855418 |
675 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 677 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1534000 rs527974780 |
678 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345855499 rs1445450479 |
679 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1534004 rs752985875 |
683 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752985875 CA1534003 |
683 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345855570 rs1457367359 |
685 | R>G | No |
ClinGen gnomAD |
|
|
rs1572935727 CA345855602 |
688 | T>A | No |
ClinGen Ensembl |
|
|
rs1025211530 CA42578969 |
689 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 689 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1470763197 CA345855612 |
690 | G>R | No |
ClinGen gnomAD |
|
|
CA345855628 rs1229918538 |
692 | I>V | No |
ClinGen TOPMed |
|
|
CA1534022 rs142153186 |
694 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1534023 rs764427932 |
695 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs754191514 CA1534024 |
695 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345855694 rs757675674 |
698 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA345855689 rs1226139972 |
698 | K>R | No |
ClinGen gnomAD |
|
|
rs765616217 CA1534026 |
699 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA345855708 rs1396578432 |
699 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 700 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1534028 rs139756103 |
703 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1217266843 CA345855767 |
703 | Q>P | No |
ClinGen gnomAD |
|
|
rs369135035 CA345855784 |
704 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1534029 rs779537584 |
704 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs369135035 CA345855786 |
704 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345855790 rs754566566 |
705 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754566566 CA1534031 |
705 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147550491 CA1534033 |
706 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs531569389 CA1534034 |
707 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345855827 rs149684218 |
707 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM124147 rs749214739 CA1534036 |
709 | Y>C | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA345855868 rs1558275568 RCV000722960 |
710 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs148988369 CA345855891 CA1534037 |
712 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768962550 CA42579102 |
713 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA345855929 rs1558275725 |
714 | Q>R | No |
ClinGen Ensembl |
|
|
CA1534058 rs779028083 |
717 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 718 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345858116 rs1244334063 |
722 | C>W | No |
ClinGen gnomAD |
|
| TCGA novel | 723 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1008067615 CA42587933 |
724 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1534060 rs768837921 |
725 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224182 rs398124543 RCV000082648 |
725 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA42587943 rs539892186 |
726 | A>D | No |
ClinGen Ensembl |
|
|
CA345858319 rs1351772265 |
730 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1534063 rs773568815 |
731 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401569991 CA345858363 |
732 | M>I | No |
ClinGen gnomAD |
|
|
CA345858352 rs1219230982 |
732 | M>V | No |
ClinGen gnomAD |
|
|
rs1372423134 CA345858377 |
733 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs913897829 CA345858382 |
734 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs913897829 CA345858385 |
734 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA42588000 rs913897829 |
734 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1534066 rs200324087 |
734 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs760083583 CA345858394 |
735 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs760083583 CA1534067 |
735 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA42588011 rs766979418 |
737 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1534069 RCV000417929 rs752211549 |
738 | H>Y | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA42588030 rs145008402 |
740 | V>D | No |
ClinGen ESP TOPMed |
|
|
CA1534071 rs371993612 |
742 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 744 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1224044531 CA345858559 |
749 | Q>H | No |
ClinGen gnomAD |
|
|
rs571521639 CA42588054 |
749 | Q>R | No |
ClinGen 1000Genomes |
|
|
CA1534076 rs758478234 |
751 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1534078 rs748193273 |
752 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs542760055 RCV000520738 RCV000791073 CA42588111 |
753 | L>M | No |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
|
CA1534080 rs773337013 COSM272893 |
754 | L>P | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 757 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345858690 rs1558300442 |
760 | F>S | No |
ClinGen Ensembl |
|
|
CA1534082 rs771263223 |
761 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA345858701 rs771263223 |
761 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs774737339 CA42588159 |
762 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1534084 rs760028121 |
765 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA42592369 rs368262693 |
766 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345859646 rs1184377252 |
767 | V>A | No |
ClinGen gnomAD |
|
|
rs777956769 CA1534101 |
767 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1412917667 CA345859662 |
768 | I>M | No |
ClinGen gnomAD |
|
|
CA1534102 rs749481129 |
768 | I>T | No |
ClinGen ExAC |
|
|
CA345859704 rs1401902390 |
771 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 772 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1534104 rs774681933 |
772 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345859740 rs1456856828 |
773 | E>D | No |
ClinGen gnomAD |
|
|
rs746241107 CA1534105 |
774 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1534106 rs772561442 |
774 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA345859765 RCV000594469 rs1553301320 |
776 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1342440952 CA345859779 |
777 | V>I | No |
ClinGen gnomAD |
|
|
COSM3961043 rs775885750 CA1534107 COSM3961042 |
779 | C>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1534108 rs761296128 |
781 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1534109 rs763484606 |
783 | I>T | No |
ClinGen ExAC TOPMed |
|
|
CA42592431 rs866651138 |
783 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1481883 CA1534110 rs776351541 |
784 | K>E | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1534111 rs761544414 |
786 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 787 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1573025516 CA345859862 |
787 | F>V | No |
ClinGen Ensembl |
|
|
rs1164533402 CA345859869 |
788 | F>L | No |
ClinGen TOPMed |
|
|
CA345859882 rs751710086 |
790 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA42592451 rs751710086 |
790 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1534112 rs755286469 |
790 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA345859885 rs1248783086 |
790 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 791 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408950102 CA345859939 |
798 | F>Y | No |
ClinGen gnomAD |
|
|
rs751427775 CA1534115 |
801 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468571483 CA345859961 |
802 | P>T | No |
ClinGen TOPMed |
|
|
rs931078699 CA42592489 |
803 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1534129 rs773019394 |
805 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 806 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA42593160 rs759614820 |
809 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs759614820 CA345860169 |
809 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1534130 rs762714174 |
811 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1259029362 CA345860234 |
813 | V>G | No |
ClinGen gnomAD |
|
|
CA345860245 rs1289605053 |
814 | S>C | No |
ClinGen gnomAD |
|
|
CA345860258 rs1459281730 |
815 | L>* | No |
ClinGen gnomAD |
|
|
CA1534131 rs766055726 |
819 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557485971 CA1534133 |
821 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1168315952 CA345860391 |
824 | K>N | No |
ClinGen gnomAD |
|
|
rs757356725 CA1534136 |
824 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376099480 CA345860405 |
826 | E>* | No |
ClinGen TOPMed |
|
|
CA345860414 rs1184202406 |
826 | E>V | No |
ClinGen TOPMed |
|
|
rs1202761435 CA345860488 |
831 | H>Q | No |
ClinGen TOPMed |
|
|
CA1534138 rs750616897 |
831 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA42593218 rs1025795854 |
831 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs888706604 CA42593246 |
833 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs936270606 CA42593248 |
835 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 837 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1534140 rs780273443 |
838 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1534158 rs529914328 |
839 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1430270004 CA345860600 |
839 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1487232617 CA345860682 |
845 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs781722446 CA1534162 |
846 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1534164 rs377362691 |
847 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377362691 CA1534165 |
847 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764301743 CA42597358 |
848 | H>Y | No |
ClinGen TOPMed |
|
|
rs770419484 COSM1005893 CA1534167 |
849 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs926743450 CA42597433 |
851 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345860788 rs1332418317 |
853 | L>Q | No |
ClinGen gnomAD |
|
|
CA1534171 rs771825344 |
854 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 855 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345860810 rs1573060852 |
855 | R>K | No |
ClinGen Ensembl |
|
|
CA345860830 rs1274562471 |
856 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1353918633 CA345860841 |
857 | H>R | No |
ClinGen TOPMed |
|
|
CA345860837 rs1388859276 |
857 | H>Y | No |
ClinGen gnomAD |
|
|
CA1534174 rs375615756 |
858 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs199602098 CA1534173 |
858 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000522852 rs199602098 CA345860848 |
858 | S>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1240987502 CA345860869 |
859 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345860860 rs1339817588 |
859 | S>P | No |
ClinGen TOPMed |
|
|
rs773099572 CA1534175 |
860 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1215742845 CA345860887 |
861 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA345860890 rs1215742845 |
861 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1534177 rs763125102 |
862 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1534178 rs766464310 |
862 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763125102 CA345860907 |
862 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1534179 rs377377619 |
864 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345860951 rs773234393 |
865 | D>G | No |
ClinGen TOPMed |
|
|
rs773234393 CA42597548 |
865 | D>V | No |
ClinGen TOPMed |
|
|
rs1423482392 CA345860958 |
866 | T>A | No |
ClinGen TOPMed |
|
|
CA1534181 rs767988183 |
866 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA345860962 rs767988183 |
866 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767988183 CA345860964 |
866 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA42597554 rs200755137 |
867 | F>I | No |
ClinGen 1000Genomes |
|
|
CA345860981 rs1377894468 |
867 | F>L | No |
ClinGen gnomAD |
|
|
rs756630845 CA1534183 |
868 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1269771663 CA345861041 |
871 | T>I | No |
ClinGen gnomAD |
|
|
CA345861095 rs748706363 |
875 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs748706363 CA1534185 |
875 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1162398182 CA345861089 |
875 | E>K | No |
ClinGen TOPMed |
|
|
rs756812127 CA1534186 |
876 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375266851 CA1534187 |
877 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345861129 rs1374826375 |
878 | P>S | No |
ClinGen gnomAD |
|
|
CA1534189 rs771771801 |
879 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 881 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA42597595 rs367864442 |
882 | N>K | No |
ClinGen ESP |
|
|
CA345861195 rs1376846811 |
883 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1534190 rs137991324 |
884 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746815381 CA1534191 |
885 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA345861224 rs1558324275 |
885 | I>V | No |
ClinGen Ensembl |
|
|
CA345861243 rs1225275766 |
886 | H>Q | No |
ClinGen TOPMed |
|
|
CA1534192 rs372150324 |
887 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1264596481 CA345861253 |
888 | A>T | No |
ClinGen gnomAD |
|
|
rs374190632 CA345861271 |
889 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1534193 COSM1305588 rs374190632 |
889 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA345861284 rs143650210 |
890 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1534195 rs143650210 |
890 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
1 associated diseases with Q14693
[MIM: 268200]: Myoglobinuria, acute recurrent, autosomal recessive (ARARM)
Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. {ECO:0000269|PubMed:18817903}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. {ECO:0000269|PubMed:18817903}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.4 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| 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). |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidate phosphatase activity | Catalysis of the reaction: a 1,2-diacylglycerol 3-phosphate + H2O = a 1,2-diacyl-sn-glycerol + phosphate. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| animal organ regeneration | The regrowth of a lost or destroyed animal organ. |
| cellular lipid metabolic process | The chemical reactions and pathways involving lipids, as carried out by individual cells. |
| cellular response to insulin stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| fatty acid catabolic process | The chemical reactions and pathways resulting in the breakdown of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes. |
| mitotic nuclear membrane disassembly | The mitotic cell cycle process in which the controlled partial or complete breakdown of the nuclear membranes during occurs during mitosis. |
| negative regulation of myelination | Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a myelin sheath around nerve axons. |
| negative regulation of phosphatidate phosphatase activity | Any process that stops, prevents or reduces the frequency, rate or extent of phosphatidate phosphatase activity. |
| phosphatidic acid biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidic acid, any derivative of glycerol phosphate in which both the remaining hydroxyl groups of the glycerol moiety are esterified with fatty acids. |
| phosphatidic acid metabolic process | The chemical reactions and pathways involving phosphatidic acid, any derivative of glycerol phosphate in which both the remaining hydroxyl groups of the glycerol moiety are esterified with fatty acids. |
| positive regulation of cold-induced thermogenesis | Any process that activates or increases the frequency, rate or extent of cold-induced thermogenesis. |
| positive regulation of DNA replication | Any process that activates or increases the frequency, rate or extent of DNA replication. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| triglyceride biosynthetic process | The chemical reactions and pathways resulting in the formation of a triglyceride, any triester of glycerol. |
| triglyceride mobilization | The release of triglycerides, any triester of glycerol, from storage within cells or tissues, making them available for metabolism. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q92539 | LPIN2 | Phosphatidate phosphatase LPIN2 | Homo sapiens (Human) | PR |
| Q9BQK8 | LPIN3 | Phosphatidate phosphatase LPIN3 | Homo sapiens (Human) | PR |
| Q99PI5 | Lpin2 | Phosphatidate phosphatase LPIN2 | Mus musculus (Mouse) | PR |
| Q91ZP3 | Lpin1 | Phosphatidate phosphatase LPIN1 | Mus musculus (Mouse) | PR |
| Q9FMN2 | PAH2 | Phosphatidate phosphatase PAH2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNYVGQLAGQ | VFVTVKELYK | GLNPATLSGC | IDIIVIRQPN | GNLQCSPFHV | RFGKMGVLRS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| REKVVDIEIN | GESVDLHMKL | GDNGEAFFVQ | ETDNDQEVIP | MHLATSPILS | EGASRMECQL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KRGSVDRMRG | LDPSTPAQVI | APSETPSSSS | VVKKRRKRRR | KSQLDSLKRD | DNMNTSEDED |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MFPIEMSSDE | AMELLESSRT | LPNDIPPFQD | DIPEENLSLA | VIYPQSASYP | NSDREWSPTP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SPSGSRPSTP | KSDSELVSKS | TERTGQKNPE | MLWLWGELPQ | AAKSSSPHKM | KESSPLSSRK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ICDKSHFQAI | HSESSDTFSD | QSPTLVGGAL | LDQNKPQTEM | QFVNEEDLET | LGAAAPLLPM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IEELKPPSAS | VVQTANKTDS | PSRKRDKRSR | HLGADGVYLD | DLTDMDPEVA | ALYFPKNGDP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SGLAKHASDN | GARSANQSPQ | SVGSSGVDSG | VESTSDGLRD | LPSIAISLCG | GLSDHREITK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DAFLEQAVSY | QQFVDNPAII | DDPNLVVKIG | SKYYNWTTAA | PLLLAMQAFQ | KPLPKATVES |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IMRDKMPKKG | GRWWFSWRGR | NTTIKEESKP | EQCLAGKAHS | TGEQPPQLSL | ATRVKHESSS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SDEERAAAKP | SNAGHLPLLP | NVSYKKTLRL | TSEQLKSLKL | KNGPNDVVFS | VTTQYQGTCR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| CEGTIYLWNW | DDKVIISDID | GTITRSDTLG | HILPTLGKDW | THQGIAKLYH | KVSQNGYKFL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YCSARAIGMA | DMTRGYLHWV | NERGTVLPQG | PLLLSPSSLF | SALHREVIEK | KPEKFKVQCL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| TDIKNLFFPN | TEPFYAAFGN | RPADVYSYKQ | VGVSLNRIFT | VNPKGELVQE | HAKTNISSYV |
| 850 | 860 | 870 | 880 | ||
| RLCEVVDHVF | PLLKRSHSSD | FPCSDTFSNF | TFWREPLPPF | ENQDIHSASA |