Q75T13
PR
Gene name |
PGAP1 (UNQ3024/PRO9822) |
Protein name |
GPI inositol-deacylase |
Names |
Post-GPI attachment to proteins factor 1, hPGAP1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:80055 |
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 Q75T13
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q75T13-F1 | Predicted | AlphaFoldDB |
681 variants for Q75T13
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2041317 RCV000705001 rs375123215 |
11 | L>V | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1703369332 RCV001219722 |
12 | A>S | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2041309 RCV001847245 RCV001344625 rs749719250 |
19 | F>L | Hereditary spastic paraplegia Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001341484 CA2041269 rs777153886 |
51 | I>M | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201585822 RCV000873711 CA2041265 |
63 | A>T | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000208579 rs869025579 RCV000210383 |
92 | P>missing | Intellectual disability, autosomal recessive 42 Cerebral visual impairment and intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2041228 RCV000950983 rs200242648 |
104 | I>V | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000500227 RCV000997638 RCV001848874 CA2041226 RCV000705226 rs142320636 |
111 | K>E | Hereditary spastic paraplegia Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA350180986 RCV000662047 rs1457240197 |
113 | E>D | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1410587479 CA350180469 RCV000537324 |
143 | Q>* | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001306357 CA350179984 rs771798393 |
160 | G>D | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_071772 rs587777378 RCV000118980 |
197 | L>missing | NEDDSBA; results in loss of PI-specific phospholipase C sensitivity which could be rescued by expression of the wild-type protein Intellectual disability, autosomal recessive 42 [UniProt, ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
VAR_071772 rs587777378 |
197 | L>del | NEDDSBA; results in loss of PI-specific phospholipase C sensitivity which could be rescued by expression of the wild-type protein [UniProt] | Yes |
UniProt dbSNP |
|
CA2041143 RCV000762308 rs774987863 RCV001855952 RCV002533899 |
220 | T>M | Intellectual disability, autosomal recessive 42 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1702538795 RCV001266609 |
223 | N>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3425903 RCV000503638 CA2041136 RCV001857152 rs368553507 |
231 | R>Q | Intellectual disability, autosomal recessive 42 Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2041135 RCV001069857 rs749729836 |
232 | H>R | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1702534679 RCV001169901 |
259 | L>* | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000818444 CA350176789 rs1323722383 |
304 | D>V | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs869025580 RCV000208582 RCV000210406 |
308 | K>missing | Intellectual disability, autosomal recessive 42 Cerebral visual impairment and intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
CA350175818 rs1576164991 RCV000986968 |
356 | K>* | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000850581 rs747024084 CA62793687 |
357 | W>R | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000794833 rs1291611574 CA350172861 |
425 | Y>C | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001571811 RCV000545388 rs781325598 |
465 | I>missing | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs143038880 RCV000208575 CA083300 RCV003128596 |
466 | Q>* | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000500103 rs1329688368 RCV002524267 CA350171315 |
483 | V>L | Intellectual disability, autosomal recessive 42 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001297849 rs1329688368 |
483 | V>M | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000652178 rs199809707 CA2040909 |
492 | N>S | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000534110 rs201002323 CA2040874 |
520 | I>V | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA352166 RCV000208580 rs869025578 |
524 | Y>* | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs755341613 RCV001334245 CA2040844 |
555 | Q>* | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000877763 RCV000501742 rs572992003 CA2040840 |
564 | L>S | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002530546 CA2040833 RCV000652179 rs769577378 |
574 | R>Q | Intellectual disability, autosomal recessive 42 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs62185645 RCV000986967 RCV000499483 RCV000514378 CA2040807 RCV001848872 |
585 | Q>E | Hereditary spastic paraplegia Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs150893861 RCV001848971 RCV000560352 CA2040760 |
626 | Y>H | Hereditary spastic paraplegia Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001329384 rs1334582239 |
628 | T>A | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756609752 RCV001262862 RCV002537640 |
681 | L>missing | Intellectual disability, autosomal recessive 42 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1700574769 RCV001334246 |
710 | S>P | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753237558 CA2040691 RCV000997637 RCV001858859 |
733 | P>S | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA350185684 RCV000502026 rs1361547443 |
735 | L>* | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000986966 CA350185277 rs1576086299 |
758 | Y>* | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000817132 rs776817075 CA2040682 |
759 | Y>C | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs143960563 CA2040667 RCV000986965 |
763 | V>I | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000598809 RCV000850580 rs767774867 RCV003160066 |
786 | R>missing | Intellectual disability, autosomal recessive 42 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs36086547 RCV001816857 CA2040639 RCV002537112 RCV000799682 |
792 | N>S | Intellectual disability, autosomal recessive 42 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000501790 CA2040632 rs745554603 RCV002527280 |
803 | R>H | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1700449009 RCV001217222 |
871 | T>missing | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinVar dbSNP |
|
TCGA novel rs776985592 RCV000652177 CA350182707 |
881 | K>N | Variant assessed as Somatic; impact. Intellectual disability, autosomal recessive 42 [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2040569 RCV001308964 rs375115788 |
881 | K>R | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs139107571 RCV000878895 RCV001847106 CA2040566 |
883 | T>A | Hereditary spastic paraplegia Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA350182615 rs1559326086 RCV000704589 |
897 | F>S | Intellectual disability, autosomal recessive 42 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2041321 rs757313863 |
3 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA62812901 rs777757143 |
5 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 6 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764059721 CA2041319 |
6 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA350182319 rs1252728377 |
7 | N>H | No |
ClinGen gnomAD |
|
|
rs546617176 CA62812893 |
8 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2041318 rs546617176 |
8 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350182293 rs1473102521 |
10 | N>K | No |
ClinGen TOPMed |
|
|
CA2041316 rs375123215 |
11 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759377188 CA2041315 |
11 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs770776261 CA350182271 |
14 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs770776261 CA2041313 |
14 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 14 | Y>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2041311 rs373419311 |
15 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760233909 CA2041312 |
15 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA62812836 TCGA novel rs753887832 |
17 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs1388106888 CA350182247 |
18 | V>I | No |
ClinGen gnomAD |
|
|
rs1219515814 CA350182225 |
21 | A>V | No |
ClinGen gnomAD |
|
|
rs1453535040 CA350182223 |
22 | T>A | No |
ClinGen gnomAD |
|
|
rs1305744054 CA350182220 |
22 | T>N | No |
ClinGen TOPMed |
|
| TCGA novel | 24 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2041306 rs746291958 |
26 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 26 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350182184 rs1340391839 |
26 | W>L | No |
ClinGen gnomAD |
|
|
rs1276423216 CA350182177 |
27 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs781386136 CA2041305 |
28 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA350182167 rs1376883591 |
28 | V>I | No |
ClinGen TOPMed |
|
|
CA350182157 rs1273702087 |
29 | F>L | No |
ClinGen gnomAD |
|
|
rs777660974 CA2041302 |
32 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA2041301 rs571074958 |
33 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350182116 rs1313549345 |
33 | E>K | No |
ClinGen TOPMed |
|
|
CA2041300 rs752507663 |
34 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350182092 rs1576214966 |
35 | N>H | No |
ClinGen Ensembl |
|
|
CA350182085 rs149238260 |
35 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759403292 CA2041298 |
35 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs149238260 CA2041299 |
35 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs753729948 CA350182072 |
36 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1576214934 CA350182068 |
37 | C>G | No |
ClinGen Ensembl |
|
|
CA350182036 rs1483209405 |
39 | M>I | No |
ClinGen TOPMed |
|
|
CA62812707 rs999786407 |
39 | M>T | No |
ClinGen Ensembl |
|
|
CA2041296 rs766110401 |
39 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760358463 CA62812697 |
41 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760358463 CA2041295 |
41 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350182017 rs1559377506 |
41 | Y>S | No |
ClinGen Ensembl |
|
|
CA62812691 rs145141597 |
42 | M>I | No |
ClinGen ESP TOPMed |
|
|
CA2041294 rs772948939 |
42 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1424999846 CA350182006 |
42 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 43 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350181973 rs1247365897 |
45 | Y>H | No |
ClinGen gnomAD |
|
|
rs1482212033 CA350181953 |
46 | P>L | No |
ClinGen gnomAD |
|
|
rs1482212033 CA350181954 |
46 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2041292 rs761400450 |
47 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1412047248 CA350181508 |
50 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs771218129 CA2041268 |
55 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs771218129 CA350181475 |
55 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA62808670 rs112351393 |
57 | L>Q | No |
ClinGen Ensembl |
|
|
rs1207400151 CA350181456 |
58 | A>T | No |
ClinGen gnomAD |
|
|
rs113391291 CA62808666 |
59 | K>R | No |
ClinGen Ensembl |
|
|
CA2041267 rs747412257 |
60 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350181416 rs1310276866 |
64 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 65 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2041262 rs755140901 |
66 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs749175506 CA2041261 |
69 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs780158313 CA2041260 |
71 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319741809 CA350181370 |
71 | E>K | No |
ClinGen gnomAD |
|
|
rs755963268 CA2041259 |
73 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs750301892 CA2041258 |
73 | S>Y | No |
ClinGen ExAC |
|
|
CA350181349 rs1289548191 |
74 | Y>C | No |
ClinGen gnomAD |
|
|
rs997656770 CA62808622 |
77 | E>G | No |
ClinGen Ensembl |
|
|
CA350181300 rs1348421134 |
81 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1278468256 CA350181297 |
81 | L>P | No |
ClinGen gnomAD |
|
|
rs1429621067 CA350181293 |
82 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs114297432 CA2041255 |
84 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350181270 rs1187177388 |
85 | G>V | No |
ClinGen gnomAD |
|
|
rs1451902336 CA350181248 |
89 | L>F | No |
ClinGen gnomAD |
|
|
rs762454827 CA2041253 |
90 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1434526410 CA350181233 |
91 | L>P | No |
ClinGen TOPMed |
|
|
rs766928240 CA2041251 |
93 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151266857 CA2041252 |
93 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1223338880 CA350181204 |
95 | A>S | No |
ClinGen gnomAD |
|
|
COSM1014466 CA350181205 rs1223338880 |
95 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs551803471 CA2041249 |
95 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2041248 rs772346913 |
98 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2041247 rs748362213 |
99 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA350181078 rs1412133146 |
102 | R>C | No |
ClinGen gnomAD |
|
|
CA350181076 rs1397678356 |
102 | R>H | No |
ClinGen gnomAD |
|
|
rs1172440666 CA350181071 |
103 | S>F | No |
ClinGen gnomAD |
|
|
CA350181052 rs1375380714 |
106 | S>C | No |
ClinGen gnomAD |
|
|
rs763097142 CA2041227 |
107 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350181048 rs763097142 |
107 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555945175 CA62807076 |
108 | A>V | No |
ClinGen Ensembl |
|
|
rs1250688026 CA350181000 |
112 | A>E | No |
ClinGen gnomAD |
|
|
rs550427659 CA2041225 |
115 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1159496325 CA350180972 |
115 | I>V | No |
ClinGen TOPMed |
|
|
rs745774531 CA2041224 |
116 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs530701868 CA2041223 |
118 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2041221 rs746864238 |
119 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2041220 rs777397561 |
120 | H>N | No |
ClinGen ExAC |
|
|
CA2041218 rs374426820 CA2041219 |
122 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1224280259 CA350180830 |
124 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1241461587 CA350180722 |
129 | N>D | No |
ClinGen gnomAD |
|
|
CA2041216 rs113308965 |
129 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 131 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750884953 CA2041214 |
134 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA62807013 rs948475148 |
136 | Y>C | No |
ClinGen Ensembl |
|
|
CA350180585 rs1338111728 |
137 | G>D | No |
ClinGen gnomAD |
|
|
rs1405035738 CA350180603 |
137 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA350180600 rs1405035738 |
137 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 138 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201030311 CA2041213 |
139 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 144 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350180442 rs1352606030 |
144 | T>S | No |
ClinGen TOPMed |
|
|
CA62806995 rs62185192 |
147 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs62185192 CA2041212 |
147 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1289443541 CA350180384 |
148 | H>R | No |
ClinGen TOPMed |
|
|
CA350180392 rs1364134988 |
148 | H>Y | No |
ClinGen gnomAD |
|
|
rs975206679 CA62806977 |
149 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA350180356 rs1249786401 |
150 | C>G | No |
ClinGen TOPMed |
|
|
CA350180341 rs1204240925 |
151 | I>T | No |
ClinGen gnomAD |
|
|
rs1244957448 CA350180347 |
151 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1464448294 CA350180256 |
156 | K>R | No |
ClinGen gnomAD |
|
|
rs769841646 CA2041207 |
158 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775883892 CA2041208 |
158 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1283942597 CA350180209 |
159 | K>R | No |
ClinGen gnomAD |
|
|
CA2041184 rs771798393 |
160 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs894888316 CA62804720 |
161 | Q>K | No |
ClinGen TOPMed |
|
|
rs747994911 CA2041183 |
162 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA2041182 rs774052314 |
164 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2041181 rs768236583 |
166 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144512765 CA2041180 |
167 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779385418 CA2041179 |
168 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2041178 rs755713599 |
169 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA62804708 rs963680531 |
170 | I>V | No |
ClinGen Ensembl |
|
|
rs372875380 CA2041177 |
171 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2041175 rs185881437 |
175 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2041176 rs779210919 |
175 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs779210919 CA62804699 |
175 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA350179791 rs1402695350 |
176 | G>S | No |
ClinGen gnomAD |
|
|
rs1356417554 CA350179711 |
180 | A>V | No |
ClinGen TOPMed |
|
|
rs370198742 CA2041170 |
186 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 187 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 188 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424522424 CA350179564 |
189 | F>C | No |
ClinGen gnomAD |
|
|
CA350179542 rs1481537172 |
191 | H>D | No |
ClinGen gnomAD |
|
|
CA62804592 rs897190082 |
192 | D>E | No |
ClinGen TOPMed |
|
|
CA62804620 rs562767814 |
192 | D>H | No |
ClinGen 1000Genomes |
|
|
CA350179505 rs1576195685 |
192 | D>V | No |
ClinGen Ensembl |
|
|
rs371517233 CA2041166 |
194 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1482241246 CA350179465 |
195 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA350179459 rs1234996104 |
195 | N>S | No |
ClinGen gnomAD |
|
|
rs774065136 CA2041165 |
197 | L>F | No |
ClinGen ExAC |
|
|
rs768521940 CA2041164 |
198 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA350179418 rs1405721658 |
198 | I>V | No |
ClinGen TOPMed |
|
|
rs748849561 CA350179401 |
199 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748849561 CA2041163 |
199 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs75233772 CA2041162 |
200 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs769367265 CA2041161 COSM40460 |
206 | A>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA350179165 rs964603373 |
213 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs572676406 CA2041160 |
213 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA62804535 rs964603373 |
213 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA62804528 rs941478899 |
215 | I>V | No |
ClinGen TOPMed |
|
|
CA62804527 rs1032235512 |
216 | T>P | No |
ClinGen Ensembl |
|
|
rs1243182668 CA350178128 |
220 | T>A | No |
ClinGen gnomAD |
|
|
CA350178120 rs774987863 |
220 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2041141 rs759085369 |
222 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 222 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs563986442 CA2041139 |
224 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776330066 CA2041140 |
224 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1248053308 CA350178050 |
225 | Y>C | No |
ClinGen gnomAD |
|
|
rs1170485056 CA350178030 |
226 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA62800426 rs760504979 |
229 | N>D | No |
ClinGen Ensembl |
|
|
CA2041137 rs779489727 |
229 | N>S | No |
ClinGen ExAC |
|
|
CA350177990 rs1296966069 |
230 | A>P | No |
ClinGen gnomAD |
|
|
rs1380663755 CA350177982 |
230 | A>V | No |
ClinGen gnomAD |
|
|
rs1364192556 CA350177978 RCV000522861 RCV002252152 |
231 | R>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA2041134 rs780221998 |
233 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1457100969 CA350177848 |
242 | G>R | No |
ClinGen TOPMed |
|
|
CA350177836 rs1390165491 |
243 | G>R | No |
ClinGen gnomAD |
|
|
rs757360148 CA2041130 |
245 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA350177766 rs1199046939 |
248 | Q>E | No |
ClinGen TOPMed |
|
|
rs141210056 CA2041129 |
249 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs936230263 CA62800372 |
250 | R>C | No |
ClinGen gnomAD |
|
|
CA2041128 rs764146325 |
250 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 252 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 252 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350177711 rs1360058222 |
254 | T>P | No |
ClinGen gnomAD |
|
|
rs575076203 CA2041126 |
255 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2041125 rs764961233 |
256 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs374565749 CA62800353 |
257 | P>S | No |
ClinGen ESP |
|
|
CA2041123 rs561364244 |
261 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759213337 CA2041124 |
261 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1473832060 CA350177656 |
262 | H>R | No |
ClinGen TOPMed |
|
|
CA350177647 rs1405870830 |
263 | T>I | No |
ClinGen gnomAD |
|
|
rs541574469 CA350177645 |
264 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541574469 CA2041122 |
264 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA62800323 rs977403311 |
269 | V>M | No |
ClinGen TOPMed |
|
|
rs377188685 CA62797846 |
271 | S>* | No |
ClinGen ESP |
|
|
CA2041101 rs760072836 |
273 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2041100 rs772831289 |
277 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA350177138 rs1176534322 |
281 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA350177117 rs1193336015 |
283 | L>F | No |
ClinGen TOPMed |
|
|
CA2041099 rs766962466 |
285 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1265102731 CA350177078 |
286 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1460004622 CA350177084 |
286 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 289 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384390282 CA350176892 |
292 | Q>* | No |
ClinGen TOPMed |
|
|
rs1028131795 CA62796943 |
294 | T>N | No |
ClinGen gnomAD |
|
|
rs747630695 CA62796942 |
295 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA350176863 rs754818869 |
297 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2041085 rs754818869 |
297 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350176861 rs753726186 |
297 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753726186 CA2041084 COSM283968 |
297 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA350176860 rs1385705047 |
298 | A>T | No |
ClinGen gnomAD |
|
|
rs1223274138 CA350176850 |
299 | F>S | No |
ClinGen TOPMed |
|
|
rs893063161 CA62796898 |
307 | T>A | No |
ClinGen TOPMed |
|
|
rs1490930519 CA350176374 |
310 | I>L | No |
ClinGen gnomAD |
|
|
rs765708395 CA2041061 |
311 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2041060 rs765708395 |
311 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2041059 rs759985498 |
312 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1485898931 CA350176353 |
313 | N>I | No |
ClinGen TOPMed |
|
|
CA2041058 rs754331903 |
316 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2041057 rs766700123 |
316 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA350176317 rs1282172960 |
319 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 320 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275275814 CA350176253 |
327 | R>S | No |
ClinGen gnomAD |
|
|
rs761963556 CA2041053 |
329 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761963556 CA350176242 |
329 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350176199 rs1330824560 |
332 | H>Y | No |
ClinGen gnomAD |
|
|
rs768891024 CA2041051 |
334 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs933764486 CA62794153 |
336 | N>I | No |
ClinGen TOPMed |
|
|
rs1370857218 CA350176085 |
340 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 341 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481569808 CA350176072 |
341 | S>P | No |
ClinGen gnomAD |
|
|
rs1447446480 CA350175936 |
346 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2041041 rs751232298 CA350175909 |
348 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs909986806 CA62793709 |
348 | M>V | No |
ClinGen TOPMed |
|
|
rs984583177 CA62793703 |
349 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA350175891 rs1471075730 |
350 | V>I | No |
ClinGen gnomAD |
|
| rs779046271 | 353 | K>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335351177 CA350175839 |
354 | V>L | No |
ClinGen TOPMed |
|
|
rs1240003407 CA350175766 |
359 | Y>C | No |
ClinGen TOPMed |
|
|
CA350175755 rs1209704994 |
360 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1410661840 CA350175724 |
362 | Y>F | No |
ClinGen gnomAD |
|
| rs766852236 | 363 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2041038 rs757906848 |
363 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754313168 CA2041037 |
363 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 363 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757906848 CA350175719 |
363 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 364 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776358260 CA2041022 |
366 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA62793028 rs912272934 |
367 | K>R | No |
ClinGen Ensembl |
|
|
CA350174882 rs1185546733 |
368 | I>M | No |
ClinGen gnomAD |
|
|
CA2041021 rs770741997 |
368 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350174857 rs1205410963 |
371 | T>A | No |
ClinGen TOPMed |
|
|
CA62793016 rs987637830 |
371 | T>I | No |
ClinGen Ensembl |
|
|
rs757910847 CA2041018 |
374 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs757910847 CA2041019 |
374 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 376 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA62792969 rs953662656 |
377 | H>L | No |
ClinGen Ensembl |
|
|
rs867676878 CA62792973 |
377 | H>N | No |
ClinGen Ensembl |
|
|
rs1256709736 CA350174757 |
381 | Y>H | No |
ClinGen TOPMed |
|
|
CA2041017 rs747651996 |
382 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2041016 rs774139284 |
383 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350174728 rs774139284 |
383 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350174722 rs1295010987 |
384 | V>L | No |
ClinGen gnomAD |
|
|
rs1430249191 RCV001280736 |
385 | Y>* | No |
ClinVar dbSNP |
|
|
rs577857933 CA2041015 |
385 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA62792944 rs990121441 |
387 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 388 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs958292988 CA62792942 |
389 | T>A | No |
ClinGen gnomAD |
|
|
rs750972842 CA2041013 |
390 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1031022302 CA62792940 |
390 | M>T | No |
ClinGen Ensembl |
|
|
CA350174674 rs1454563114 |
391 | L>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 392 | D>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350173769 rs1222871686 |
392 | D>G | No |
ClinGen Ensembl |
|
|
CA2040998 rs770653789 |
392 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 394 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350173691 rs1454302178 |
397 | I>T | No |
ClinGen TOPMed |
|
|
rs1223152891 CA350173670 |
399 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1008894544 CA62790050 |
399 | A>V | No |
ClinGen gnomAD |
|
|
CA2040996 rs545461472 |
401 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1387854231 CA350173611 |
403 | S>N | No |
ClinGen gnomAD |
|
|
rs1323913898 CA350173589 |
405 | S>A | No |
ClinGen Ensembl |
|
|
CA2040995 rs771672387 |
406 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA350173579 rs1386374840 |
406 | M>V | No |
ClinGen TOPMed |
|
|
RCV000415991 CA16043821 rs1057519176 |
407 | C>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2040976 rs774070271 |
410 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774070271 CA350173461 |
410 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350173466 rs1363029344 |
410 | G>R | No |
ClinGen gnomAD |
|
|
rs1441509615 RCV000579239 CA350173402 |
415 | W>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1476736048 CA350173410 |
415 | W>G | No |
ClinGen TOPMed |
|
|
rs969313447 CA62789810 |
416 | K>E | No |
ClinGen TOPMed |
|
|
rs1238856895 CA350173382 |
417 | A>T | No |
ClinGen gnomAD |
|
|
CA350172864 rs1328022416 |
425 | Y>H | No |
ClinGen gnomAD |
|
|
CA2040954 rs750366240 |
427 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353611752 CA350172848 |
427 | T>I | No |
ClinGen gnomAD |
|
|
CA350172851 rs750366240 |
427 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2040953 rs767160857 |
433 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA62787274 rs993323751 |
433 | Y>H | No |
ClinGen TOPMed |
|
|
rs1381012544 CA350172797 |
435 | S>A | No |
ClinGen TOPMed |
|
|
rs1325546802 CA350172781 |
437 | S>F | No |
ClinGen gnomAD |
|
|
CA62787268 rs78994101 |
438 | H>Q | No |
ClinGen Ensembl |
|
|
rs1295038181 CA350172756 |
441 | V>G | No |
ClinGen TOPMed |
|
|
rs1220525600 CA350172751 |
442 | Y>C | No |
ClinGen TOPMed |
|
|
rs1302416920 CA350172743 |
443 | V>A | No |
ClinGen gnomAD |
|
|
CA350172747 rs1360965188 |
443 | V>I | No |
ClinGen gnomAD |
|
|
COSM1482591 CA350172721 rs1422722679 |
447 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2040951 COSM1158279 rs773874771 |
447 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA350172719 rs773874771 |
447 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350172718 rs1576144542 |
448 | G>R | No |
ClinGen Ensembl |
|
|
CA350172708 rs768399432 |
449 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA2040950 rs768399432 |
449 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1197784170 CA350172540 |
451 | F>L | No |
ClinGen gnomAD |
|
|
rs780043187 CA2040936 |
451 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1479215648 CA350172530 |
452 | V>A | No |
ClinGen gnomAD |
|
|
rs756202633 CA2040935 |
453 | V>I | No |
ClinGen ExAC |
|
|
rs1247732012 CA350172508 |
454 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 454 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422135649 CA350172460 |
458 | F>L | No |
ClinGen TOPMed |
|
|
rs768659717 CA62785384 |
461 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs768659717 CA62785391 |
461 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA350172411 rs1371754526 |
461 | E>K | No |
ClinGen gnomAD |
|
|
CA2040931 rs756974517 |
464 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs751423199 CA2040930 |
465 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs558336095 CA62785352 |
467 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs775283107 CA2040927 |
469 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762651455 CA2040928 |
469 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM163418 rs757165974 CA2040914 |
479 | S>L | breast [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs751478892 CA2040913 |
480 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA350171321 rs1267182430 |
482 | V>A | No |
ClinGen TOPMed |
|
|
CA62784574 rs953585188 |
482 | V>M | No |
ClinGen TOPMed |
|
|
CA2040911 rs763911058 |
488 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350171217 rs1229114939 |
490 | Y>C | No |
ClinGen gnomAD |
|
|
rs775485914 CA62784553 |
490 | Y>D | No |
ClinGen gnomAD |
|
|
CA350171221 rs775485914 |
490 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 491 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1488179799 CA350171205 COSM3379987 |
491 | Y>C | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2040907 rs758937591 |
494 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs776253084 CA2040906 |
496 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201928408 CA2040905 |
499 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770054925 CA2040899 |
501 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs1287709940 CA350171065 |
501 | I>L | No |
ClinGen TOPMed |
|
|
rs1559346407 CA350171056 |
502 | Y>H | No |
ClinGen Ensembl |
|
|
rs1011857528 CA62784511 |
503 | Q>K | No |
ClinGen TOPMed |
|
|
CA350171043 rs1559346395 |
503 | Q>P | No |
ClinGen Ensembl |
|
|
rs1230046820 CA350171032 |
504 | A>D | No |
ClinGen TOPMed |
|
|
rs1362867373 CA350171022 |
505 | F>L | No |
ClinGen gnomAD |
|
|
rs1364451910 CA350171016 |
506 | K>* | No |
ClinGen gnomAD |
|
|
CA62784505 rs966044727 |
507 | I>M | No |
ClinGen Ensembl |
|
|
rs746104068 CA2040897 |
507 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2040896 rs781288060 |
508 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746904528 CA2040894 |
509 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA62784500 rs1001426688 |
510 | V>I | No |
ClinGen TOPMed |
|
|
CA2040893 rs777913243 |
512 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA62784483 rs1019880419 |
517 | K>E | No |
ClinGen Ensembl |
|
|
rs752578891 CA2040891 |
517 | K>R | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 519 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772184401 CA2040873 |
522 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772184401 CA350170697 |
522 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196956303 CA350170649 |
525 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA350170647 rs1196956303 |
525 | R>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 527 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748118352 CA2040872 |
527 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 527 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1287076752 CA350170597 |
528 | I>T | No |
ClinGen TOPMed |
|
|
rs779641500 CA350170528 |
532 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2040869 rs778162467 |
532 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778162467 CA2040870 |
532 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304004978 CA350170423 |
538 | I>T | No |
ClinGen gnomAD |
|
|
rs1387903152 CA350170403 |
540 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 540 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2040855 rs779050664 |
541 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 541 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2040854 rs779050664 |
541 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768491577 CA2040853 |
542 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304428399 CA350170332 |
543 | S>F | No |
ClinGen gnomAD |
|
|
rs138897526 CA62784178 |
543 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138897526 CA2040851 |
543 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1466481509 CA350170324 |
544 | S>F | No |
ClinGen gnomAD |
|
|
rs745546693 CA2040849 |
546 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs897499812 CA62784171 |
548 | S>A | No |
ClinGen Ensembl |
|
|
rs753193367 CA2040846 |
552 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA350170272 rs1440967704 |
553 | I>V | No |
ClinGen gnomAD |
|
|
CA2040843 rs754205464 |
556 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1576130911 CA350170246 |
557 | E>Q | No |
ClinGen Ensembl |
|
|
CA2040842 rs766790181 |
558 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1576130897 CA350170237 |
558 | N>Y | No |
ClinGen Ensembl |
|
|
rs1040437559 CA62784149 |
561 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 562 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350170200 rs1387393586 |
563 | A>V | No |
ClinGen TOPMed |
|
|
rs760940664 CA2040841 |
564 | L>V | No |
ClinGen ExAC |
|
|
rs1243593076 CA350170173 |
567 | M>I | No |
ClinGen gnomAD |
|
|
CA2040839 rs767691233 |
567 | M>V | No |
ClinGen ExAC |
|
|
rs762049431 CA2040838 |
569 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350170155 rs1396348421 |
570 | S>T | No |
ClinGen gnomAD |
|
|
rs1359703723 CA350170143 |
572 | D>Y | No |
ClinGen gnomAD |
|
|
rs768522567 CA2040836 |
573 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350170128 rs769577378 |
574 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775104259 CA2040834 |
574 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162811688 CA350170126 |
575 | Y>H | No |
ClinGen gnomAD |
|
|
rs182393188 CA2040831 |
576 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs957701509 CA62783595 |
578 | T>R | No |
ClinGen Ensembl |
|
|
CA2040808 rs746698266 |
579 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs770621239 CA2040809 |
579 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1297429155 CA350170046 |
585 | Q>L | No |
ClinGen TOPMed |
|
|
rs200347233 CA2040786 |
593 | F>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2040785 rs770373639 |
594 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2040784 rs372173608 |
595 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1319734408 CA350169339 |
597 | A>S | No |
ClinGen TOPMed |
|
|
rs781633255 CA2040783 |
597 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1389312148 CA350169332 |
598 | L>P | No |
ClinGen TOPMed |
|
|
rs751714162 CA2040781 |
600 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1180097808 CA350169313 |
601 | Y>* | No |
ClinGen gnomAD |
|
| TCGA novel | 602 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2040778 rs139880907 |
603 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2040777 rs765325574 |
605 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs753780287 CA2040775 |
606 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163866309 CA350169285 |
606 | I>V | No |
ClinGen gnomAD |
|
|
CA2040773 rs760584810 |
611 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1303713949 CA350169249 |
612 | G>R | No |
ClinGen TOPMed |
|
|
rs761392582 CA2040770 |
615 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs771805552 CA2040771 |
615 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA62779920 rs142317521 |
616 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1298090643 CA350169207 |
618 | F>S | No |
ClinGen gnomAD |
|
|
rs1576090493 CA350188332 |
621 | G>D | No |
ClinGen Ensembl |
|
|
CA2040761 rs758600595 |
622 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA350188093 rs1334582239 |
628 | T>P | No |
ClinGen TOPMed |
|
|
CA2040759 rs778899858 |
629 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2040757 rs753763690 |
631 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755064293 CA2040758 |
631 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs766379345 CA2040756 |
632 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA350187960 rs1313624587 |
633 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs755842427 CA2040755 |
636 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2040754 rs750181380 |
637 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162236536 CA350187828 |
638 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2040753 rs767246428 |
639 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA350187767 rs1487860798 |
641 | P>R | No |
ClinGen TOPMed |
|
|
rs944686375 CA62805179 |
644 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2040752 rs761459339 |
644 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs910675841 CA62805178 |
646 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350187676 rs1263704216 |
646 | I>M | No |
ClinGen gnomAD |
|
|
rs774157794 CA2040751 |
646 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA350187640 rs1187070526 |
649 | L>P | No |
ClinGen gnomAD |
|
|
rs763679434 CA2040750 |
650 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762614938 CA2040749 |
651 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1224028636 CA350187596 |
651 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 653 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559330327 CA350187409 |
654 | W>* | No |
ClinGen Ensembl |
|
|
CA62804575 rs1034401204 |
655 | F>L | No |
ClinGen TOPMed |
|
|
CA350187354 rs1169608420 RCV001008009 |
657 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
CA350187352 rs1559330321 |
657 | E>V | No |
ClinGen Ensembl |
|
|
rs143904806 CA62804569 |
660 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs143904806 CA62804552 |
660 | D>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2040734 rs751248454 |
661 | V>E | No |
ClinGen ExAC |
|
|
rs757171896 CA2040735 |
661 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs763884002 CA2040733 |
663 | L>S | No |
ClinGen ExAC |
|
|
CA350187156 rs1304073018 |
667 | L>F | No |
ClinGen gnomAD |
|
|
CA350187161 rs1310892893 |
667 | L>S | No |
ClinGen gnomAD |
|
|
CA62804530 rs200637575 |
668 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA350187071 rs1330234586 |
669 | A>D | No |
ClinGen gnomAD |
|
|
rs201052846 CA2040732 |
669 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs145715800 CA2040730 |
670 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2040728 rs773607126 |
673 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342992802 CA350186959 |
676 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 677 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350186924 rs1357299172 |
678 | C>* | No |
ClinGen gnomAD |
|
| TCGA novel | 680 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350186891 rs1230212454 |
681 | L>P | No |
ClinGen TOPMed |
|
|
CA2040725 rs762232340 |
682 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1176975147 CA350186858 |
684 | L>* | No |
ClinGen gnomAD |
|
|
rs1421178027 CA350186796 |
689 | F>L | No |
ClinGen gnomAD |
|
|
CA350186770 rs768817708 |
691 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1014455 rs768817708 CA2040723 |
691 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1283043067 CA350186759 |
692 | C>F | No |
ClinGen gnomAD |
|
|
rs1212278291 CA350186751 |
693 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs370811550 CA2040721 |
695 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769774487 CA2040720 |
696 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2040716 rs751452689 |
702 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350186593 rs1455798976 |
702 | S>P | No |
ClinGen TOPMed |
|
|
rs1376737496 CA350186586 |
703 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 704 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350186523 rs1435317340 |
707 | L>F | No |
ClinGen gnomAD |
|
|
CA62804439 rs758087250 |
707 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2040714 rs758087250 |
707 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA350186458 rs1455426913 |
712 | W>* | No |
ClinGen gnomAD |
|
|
rs1384046890 CA350186432 |
714 | A>T | No |
ClinGen TOPMed |
|
|
rs759027447 CA2040711 |
714 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1576088370 CA350186408 |
715 | L>F | No |
ClinGen Ensembl |
|
|
CA2040710 rs750937180 |
717 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA350185897 rs1251196747 |
718 | P>H | No |
ClinGen TOPMed |
|
|
CA2040697 rs746977564 |
719 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA350185867 rs1477706519 COSM442065 |
721 | L>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1261594387 CA350185848 |
723 | K>E | No |
ClinGen gnomAD |
|
|
rs758283563 CA2040695 |
725 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758283563 CA62803864 |
725 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2040696 rs777647546 |
725 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2040694 rs548063328 COSM1014454 |
726 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA350185807 rs1261875806 |
726 | K>R | No |
ClinGen gnomAD |
|
|
CA2040693 rs778497679 |
727 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2040692 rs149424856 |
728 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA62803829 rs959419825 |
728 | I>T | No |
ClinGen Ensembl |
|
|
rs1233627626 CA350185762 |
729 | S>L | No |
ClinGen gnomAD |
|
|
rs1317107963 CA350185755 |
730 | P>R | No |
ClinGen gnomAD |
|
|
rs1026832874 CA62803817 |
730 | P>T | No |
ClinGen Ensembl |
|
|
CA350185662 rs762238508 |
737 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA2040689 rs762238508 |
737 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2040690 rs765905176 |
737 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA62803799 rs995324814 |
740 | I>M | No |
ClinGen gnomAD |
|
|
CA350185611 rs1438806924 |
741 | I>V | No |
ClinGen gnomAD |
|
|
rs1576086417 CA350185565 |
744 | W>G | No |
ClinGen Ensembl |
|
|
rs1396889717 CA350185527 |
746 | T>S | No |
ClinGen gnomAD |
|
|
CA2040688 rs752073386 |
747 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465394248 CA350185486 |
749 | A>S | No |
ClinGen gnomAD |
|
|
rs1476058984 CA350185447 |
750 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 751 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs570771039 CA2040684 |
752 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140021567 CA2040685 |
752 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201254699 CA62803783 |
753 | L>F | No |
ClinGen 1000Genomes |
|
|
rs1254451848 CA350185291 |
758 | Y>H | No |
ClinGen gnomAD |
|
|
rs1399770896 CA350185288 |
758 | Y>S | No |
ClinGen TOPMed |
|
|
rs1576086248 CA350185187 |
762 | K>N | No |
ClinGen Ensembl |
|
|
CA350185196 rs1576086262 |
762 | K>T | No |
ClinGen Ensembl |
|
|
rs1203333153 CA350185060 |
765 | H>D | No |
ClinGen TOPMed |
|
|
CA62803047 rs892651757 |
767 | Q>* | No |
ClinGen TOPMed |
|
|
CA350185039 rs892651757 |
767 | Q>K | No |
ClinGen TOPMed |
|
|
rs752959324 CA2040666 |
769 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1281516620 CA350184992 |
770 | L>V | No |
ClinGen gnomAD |
|
|
rs759614777 CA2040664 |
772 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177010707 CA350184893 |
776 | S>N | No |
ClinGen TOPMed |
|
|
rs760904211 CA2040661 |
778 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA62802987 rs371515536 |
778 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA350184863 rs760904211 COSM1014453 |
778 | P>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs760904211 CA2040662 |
778 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342962460 CA350184725 |
781 | P>L | No |
ClinGen gnomAD |
|
|
rs754109695 CA2040645 |
781 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA350184688 rs1201918636 |
783 | H>Y | No |
ClinGen TOPMed |
|
|
rs1483887918 CA350184662 |
784 | S>A | No |
ClinGen TOPMed |
|
|
CA2040642 rs760816428 |
784 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1184068304 CA350184614 |
786 | R>S | No |
ClinGen TOPMed |
|
|
rs750489381 CA2040640 |
791 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA62802680 rs1052446928 |
791 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs750489381 CA350184552 |
791 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761597205 CA2040638 |
793 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1051067702 CA62802635 |
798 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA350184463 rs1278086061 |
799 | I>T | No |
ClinGen gnomAD |
|
|
rs762772805 CA2040635 |
799 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2040634 rs143253730 |
801 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2040633 rs556240126 |
803 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA62802584 rs199805706 |
804 | L>V | No |
ClinGen Ensembl |
|
|
CA350184395 rs1576082931 |
805 | S>F | No |
ClinGen Ensembl |
|
|
CA2040631 rs780504427 |
806 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2040630 rs770493268 |
807 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779542605 CA2040628 |
808 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1169639805 CA350184358 |
808 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 811 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350184293 rs1468111566 |
813 | L>F | No |
ClinGen gnomAD |
|
|
rs755267355 COSM377215 CA2040627 |
814 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs754305866 CA2040626 |
814 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2040625 rs780589705 |
815 | M>V | No |
ClinGen ExAC |
|
|
rs756336295 CA2040624 |
816 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs750685558 CA2040623 |
819 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1296936019 CA350184177 |
823 | L>P | No |
ClinGen gnomAD |
|
|
CA2040622 rs138036688 COSM149035 |
823 | L>V | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA350184155 rs1369664658 |
825 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA350184145 rs1419217792 |
826 | I>V | No |
ClinGen gnomAD |
|
|
rs1394939985 CA350184072 |
831 | M>I | No |
ClinGen gnomAD |
|
|
CA62802520 rs916917921 |
831 | M>T | No |
ClinGen Ensembl |
|
|
rs772702385 CA62802519 |
832 | P>S | No |
ClinGen Ensembl |
|
|
rs377442526 CA2040618 |
836 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350183976 CA62802514 rs948328346 |
839 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1485824172 CA350183972 |
840 | N>H | No |
ClinGen TOPMed |
|
|
rs917600111 CA62802512 |
841 | L>P | No |
ClinGen TOPMed |
|
|
rs991828015 CA62802507 |
842 | R>W | No |
ClinGen TOPMed |
|
|
CA350183110 rs1345152967 |
843 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs911706840 CA62801836 |
846 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1413943002 CA350183029 |
848 | N>Y | No |
ClinGen gnomAD |
|
|
rs752647618 CA2040598 |
849 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA350182990 rs1415431789 |
851 | P>L | No |
ClinGen gnomAD |
|
|
rs765007097 CA2040597 |
851 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1384413919 CA538517542 |
855 | L>* | No |
ClinGen gnomAD |
|
|
CA350182936 rs1157034831 |
855 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759396648 CA2040596 |
856 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA350182909 rs776116742 |
858 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs776116742 CA2040595 |
858 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA350182885 rs1454327957 |
860 | I>F | No |
ClinGen gnomAD |
|
|
CA350182875 rs1403621275 |
861 | P>A | No |
ClinGen gnomAD |
|
|
CA2040594 rs766104960 |
861 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2040591 rs771720370 |
863 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2040590 rs749798369 |
864 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314533421 CA350182826 |
866 | L>I | No |
ClinGen TOPMed |
|
|
rs1202995401 CA350182786 |
872 | V>I | No |
ClinGen gnomAD |
|
|
rs1202995401 CA350182785 |
872 | V>L | No |
ClinGen gnomAD |
|
|
rs781429193 CA2040586 |
874 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA350182767 rs1232401385 |
875 | K>E | No |
ClinGen gnomAD |
|
|
CA350182765 rs1332454003 |
875 | K>T | No |
ClinGen gnomAD |
|
| TCGA novel | 876 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2040567 rs771216557 |
882 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259068933 CA350182692 |
884 | S>* | No |
ClinGen gnomAD |
|
|
rs772113227 CA2040564 |
887 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2040563 rs748276740 |
888 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 891 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1254508399 CA350182646 |
892 | V>I | No |
ClinGen gnomAD |
|
|
rs754905595 CA2040561 |
893 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs142041934 CA2040562 |
893 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142041934 CA350182639 |
893 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350182636 rs1270765354 |
894 | V>M | No |
ClinGen gnomAD |
|
|
CA2040560 rs753725613 |
896 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA62800769 rs200387865 |
898 | G>W | No |
ClinGen Ensembl |
|
|
CA350182594 rs1232185494 |
900 | A>V | No |
ClinGen gnomAD |
|
|
CA350182582 rs1373391587 |
902 | L>S | No |
ClinGen gnomAD |
|
|
rs750068372 CA350182572 |
903 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA2040557 rs537452254 |
903 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767327327 CA2040555 |
904 | R>G | No |
ClinGen ExAC |
|
|
rs987709288 CA62800751 |
905 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1411035835 CA350182558 |
906 | P>L | No |
ClinGen gnomAD |
|
|
CA2040554 rs761575242 |
906 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763699538 CA2040551 |
909 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA62800738 rs77720656 |
909 | V>F | No |
ClinGen Ensembl |
|
|
rs1172846506 CA350182514 |
912 | P>R | No |
ClinGen gnomAD |
|
|
CA2040550 rs147312612 |
912 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2040548 rs771325434 |
914 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs371834139 CA350182490 |
914 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777064646 CA2040549 |
914 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA2040546 rs568719380 |
915 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2040545 rs772233802 |
916 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA2040544 rs748401471 |
917 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA350182455 rs1279562441 |
919 | C>G | No |
ClinGen gnomAD |
|
|
rs768633076 CA2040542 |
922 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1410845173 CA538517374 |
923 | M>R | No |
ClinGen gnomAD |
No associated diseases with Q75T13
1 regional properties for Q75T13
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Band 7 domain | 26 - 205 | IPR001107 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| hydrolase activity, acting on ester bonds | Catalysis of the hydrolysis of any ester bond. |
| phosphatidylinositol deacylase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol + H(2)O = 1-acyl-sn-glycero-3-phospho-D-myo-inositol + a carboxylate + H(+). |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| anterior/posterior axis specification | The establishment, maintenance and elaboration of the anterior/posterior axis. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism. |
| attachment of GPI anchor to protein | A transamidation reaction that results in the cleavage of the polypeptide chain and the concomitant transfer of the GPI anchor to the newly formed carboxy-terminal amino acid of the anchored protein. The cleaved C-terminal contains the C-terminal GPI signal sequence of the newly synthesized polypeptide chain. |
| embryonic pattern specification | The process that results in the patterns of cell differentiation that will arise in an embryo. |
| endoplasmic reticulum to Golgi vesicle-mediated transport | The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi. |
| forebrain regionalization | The regionalization process resulting in the creation of areas within the forebrain that will direct the behavior of cell migration in differentiation as the forebrain develops. |
| GPI anchor metabolic process | The chemical reactions and pathways involving glycosylphosphatidylinositol anchors, molecular mechanisms for attaching membrane proteins to the lipid bilayer of cell membranes. Structurally they consist of a molecule of phosphatidylinositol to which is linked, via the C-6 hydroxyl of the inositol, a carbohydrate chain. This chain is in turn linked to the protein through an ethanolamine phosphate group, the amino group of which is in amide linkage with the C-terminal carboxyl of the protein chain, the phosphate group being esterified to the C-6 hydroxyl of the terminal mannose of the core carbohydrate chain. |
| positive regulation of ER to Golgi vesicle-mediated transport | Any process that activates or increases the frequency, rate or extent of ER to Golgi vesicle-mediated transport. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| sensory perception of sound | The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFLHSVNLWN | LAFYVFMVFL | ATLGLWDVFF | GFEENKCSMS | YMFEYPEYQK | IELPKKLAKR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YPAYELYLYG | EGSYAEEHKI | LPLTGIPVLF | LPGNAGSYKQ | VRSIGSIALR | KAEDIDFKYH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FDFFSVNFNE | ELVALYGGSL | QKQTKFVHEC | IKTILKLYKG | QEFAPKSVAI | IGHSMGGLVA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RALLTLKNFK | HDLINLLITQ | ATPHVAPVMP | LDRFITDFYT | TVNNYWILNA | RHINLTTLSV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AGGFRDYQVR | SGLTFLPKLS | HHTSALSVVS | SAVPKTWVST | DHLSIVWCKQ | LQLTTVRAFF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DLIDADTKQI | TQNSKKKLSV | LYHHFIRHPS | KHFEENPAII | SDLTGTSMWV | LVKVSKWTYV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AYNESEKIYF | TFPLENHRKI | YTHVYCQSTM | LDTNSWIFAC | INSTSMCLQG | VDLSWKAELL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PTIKYLTLRL | QDYPSLSHLV | VYVPSVRGSK | FVVDCEFFKK | EKRYIQLPVT | HLFSFGLSSR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KVVLNTNGLY | YNLELLNFGQ | IYQAFKINVV | SKCSAVKEEI | TSIYRLHIPW | SYEDSLTIAQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| APSSTEISLK | LHIAQPENNT | HVALFKMYTS | SDCRYEVTVK | TSFSQILGQV | VRFHGGALPA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| YVVSNILLAY | RGQLYSLFST | GCCLEYATML | DKEAKPYKVD | PFVIIIKFLL | GYKWFKELWD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VLLLPELDAV | ILTCQSMCFP | LISLILFLFG | TCTAYWSGLL | SSASVRLLSS | LWLALKRPSE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LPKDIKMISP | DLPFLTIVLI | IVSWTTCGAL | AILLSYLYYV | FKVVHLQASL | TTFKNSQPVN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PKHSRRSEKK | SNHHKDSSIH | HLRLSANDAE | DSLRMHSTVI | NLLTWIVLLS | MPSLIYWLKN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LRYYFKLNPD | PCKPLAFILI | PTMAILGNTY | TVSIKSSKLL | KTTSQFPLPL | AVGVIAFGSA |
| 910 | 920 | ||||
| HLYRLPCFVF | IPLLLHALCN | FM |