Q9UPZ3
PR
Gene name |
HPS5 (AIBP63, KIAA1017) |
Protein name |
BLOC-2 complex member HPS5 |
Names |
Alpha-integrin-binding protein 63, Hermansky-Pudlak syndrome 5 protein, Ruby-eye protein 2 homolog, Ru2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11234 |
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 Q9UPZ3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UPZ3-F1 | Predicted | AlphaFoldDB |
924 variants for Q9UPZ3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000985015 rs1590156657 CA379509745 |
16 | A>P | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554948134 RCV000503910 |
36 | K>missing | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000318021 RCV001850611 CA5910556 rs774361456 |
55 | G>R | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001862865 rs747733616 RCV001107568 CA5910551 |
64 | W>L | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000499655 CA5910496 RCV000262803 RCV000954455 rs147053126 |
81 | A>T | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886048083 CA10638677 RCV000352952 |
87 | D>V | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001270595 RCV000179036 CA203145 RCV000266867 RCV000971923 rs149229493 RCV002515273 |
115 | M>I | Inborn genetic diseases Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001862864 CA5910404 RCV001107567 rs373277149 |
179 | V>I | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002245658 RCV000852157 RCV002536614 rs755827664 |
181 | Q>missing | Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA218553905 rs974587263 RCV001106897 |
196 | R>Q | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000495446 rs764296457 CA379502468 |
240 | R>P | Hermansky-pudlak syndrome 5 (hps5) Hermansky-Pudlak syndrome 5 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1131692147 RCV001865523 RCV000495126 |
273 | T>missing | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139266933 CA5910325 RCV002840400 COSM108300 |
282 | H>Y | skin Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000021033 rs281865101 |
294 | K>missing | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001106895 RCV001856432 rs144134556 CA5910251 |
338 | N>H | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs547880287 RCV002069756 CA5910243 RCV001106893 |
346 | N>S | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002555038 CA5910238 rs371346921 RCV001105783 |
356 | S>Y | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs143073506 RCV002522191 RCV000346222 CA5910235 |
359 | R>C | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5910234 rs774619545 RCV000310117 |
359 | R>H | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10630511 rs761598432 RCV000405122 |
375 | R>G | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001518954 VAR_015513 RCV000295135 RCV000150826 rs7128017 CA176331 |
417 | L>M | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001105782 rs747748271 CA5910156 |
442 | E>G | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001105781 CA5910148 RCV000913149 RCV002540853 rs200704721 |
453 | R>C | Inborn genetic diseases Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000495399 CA379495497 RCV002056822 rs1131692148 |
473 | Q>* | Hermansky-pudlak syndrome 5 (hps5) Hermansky-Pudlak syndrome 5 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000599122 RCV000852025 rs766602179 RCV000496925 |
475 | L>missing | Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001850610 rs190883305 RCV000392343 CA5910137 |
492 | L>Q | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM388971 rs756408229 RCV000294103 CA10638671 |
499 | S>L | lung Hermansky-Pudlak syndrome 5 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000959170 CA5910127 rs143784823 RCV000603229 RCV000374468 |
501 | G>R | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001856405 RCV001103835 rs139349345 CA5910079 |
512 | M>I | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000278842 rs770838422 CA5910078 |
517 | K>Q | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000927223 rs149677540 CA5910065 RCV000373451 |
537 | V>L | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001107461 CA5910042 rs370396275 |
558 | G>V | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5910036 RCV002531012 rs200178854 RCV000595446 |
564 | P>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001294394 RCV002556104 RCV001107459 rs147413884 CA5910020 |
590 | K>T | Inborn genetic diseases Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs142793392 RCV001107457 RCV001772323 CA5909989 |
602 | S>N | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5909986 rs190221223 RCV000322701 RCV002520709 |
613 | L>I | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_062285 rs281865102 CA342551 |
624 | L>R | HPS5 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV000502730 RCV002524200 CA5909959 rs746874798 |
631 | F>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1131692146 RCV000495374 |
634 | E>missing | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5909954 RCV002056184 RCV001820895 RCV000269928 rs143204089 |
634 | E>K | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs281865103 RCV000003302 |
676 | V>missing | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779921624 COSM925604 CA379490626 CA5909940 RCV000851734 |
679 | S>* | Hermansky-Pudlak syndrome endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001850609 CA10638030 RCV000362142 rs886048078 |
715 | E>G | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001106811 rs763599072 CA5909905 |
732 | G>R | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs752089199 RCV000309795 CA5909902 RCV001850608 |
734 | R>W | Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA379489533 RCV000495011 rs1131692149 |
740 | L>S | Hermansky-pudlak syndrome 5 (hps5) Hermansky-Pudlak syndrome 5 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886048077 RCV000403662 |
742 | T>missing | Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000905414 rs145135349 CA5909869 RCV002542084 |
801 | S>N | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002520708 COSM1507432 RCV000405589 rs373228021 CA5909846 |
821 | V>L | lung Variant assessed as Somatic; 0.0 impact. Hermansky-Pudlak syndrome 5 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs142090060 RCV002520707 RCV001319610 CA5909837 RCV000336336 |
841 | V>F | Inborn genetic diseases Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000614729 rs144875223 RCV000949770 RCV000278949 CA5909833 |
846 | P>L | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA342553 rs281865104 RCV000021029 |
865 | R>* | Variant assessed as Somatic; 0.0 impact. Hermansky-pudlak syndrome 5 (hps5) Hermansky-Pudlak syndrome 5 [NCI-TCGA, Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000021030 rs281865105 |
875 | L>missing | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001856420 RCV001105688 rs775281184 CA5909792 |
906 | R>W | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1131692151 RCV000495038 |
917 | E>missing | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001474622 RCV001105686 RCV000501763 CA5909709 rs147430035 |
956 | Y>H | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs397507169 RCV001851985 RCV000021031 |
977 | T>missing | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000318415 RCV000851767 rs886041723 RCV000495769 |
993 | C>missing | Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs61755718 RCV000242192 RCV000625070 CA5909671 RCV000971783 |
1015 | M>I | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs17853184 RCV000606575 RCV000763726 CA5909670 RCV000911383 |
1016 | E>K | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000382621 rs369368194 CA5909647 |
1026 | V>M | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000495763 rs753928208 |
1033 | L>missing | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000325629 CA10638663 rs886048075 |
1072 | A>T | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001820894 RCV001514046 RCV000273038 rs75482179 CA5909620 |
1077 | R>W | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5909611 RCV001103742 rs773390398 |
1086 | G>V | Variant assessed as Somatic; 0.0 impact. Hermansky-Pudlak syndrome 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_062286 rs61884288 RCV001520026 CA176328 RCV000021032 RCV000150824 |
1098 | T>I | Hermansky-Pudlak syndrome 5 HPS5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5909572 RCV001108901 rs754189788 RCV001856454 |
1122 | R>W | Hermansky-Pudlak syndrome 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554948250 CA379510206 RCV000522237 |
2 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5910595 rs747074254 |
2 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA379510127 rs1485993188 |
4 | V>E | No |
ClinGen gnomAD |
|
|
rs780171270 CA5910594 |
5 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA379510104 rs1255340549 COSM3415739 |
5 | P>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA379510025 rs1309344697 |
7 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1296322735 CA379510017 |
7 | I>T | No |
ClinGen gnomAD |
|
|
CA379509946 rs1365178974 |
9 | E>D | No |
ClinGen TOPMed |
|
|
CA379509975 rs1218282688 |
9 | E>G | No |
ClinGen gnomAD |
|
|
CA5910593 rs772533530 |
11 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA5910592 rs746420792 |
13 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs746420792 CA379509816 |
13 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA379509737 rs1415766175 |
16 | A>G | No |
ClinGen gnomAD |
|
|
rs1264653425 CA379509600 |
19 | E>D | No |
ClinGen gnomAD |
|
|
CA5910590 rs757648920 |
20 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA379509586 rs757648920 |
20 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1170740083 CA379509560 |
21 | L>P | No |
ClinGen gnomAD |
|
|
rs777469108 CA5910588 |
25 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1339054535 CA379509479 |
25 | L>P | No |
ClinGen Ensembl |
|
|
CA5910586 rs752227343 |
27 | A>V | No |
ClinGen ExAC |
|
|
rs759501156 CA5910585 |
28 | L>P | No |
ClinGen ExAC |
|
|
CA5910584 rs759501156 |
28 | L>R | No |
ClinGen ExAC |
|
|
rs192059865 CA5910581 |
29 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138638048 CA5910582 |
29 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760925763 CA5910578 |
32 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA379509323 rs1309519335 |
33 | S>I | No |
ClinGen gnomAD |
|
|
rs775524606 CA5910577 |
34 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5910576 rs772160206 |
34 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775524606 CA218561088 |
34 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218556165 COSM1209949 rs145406449 |
38 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes gnomAD |
| TCGA novel | 39 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218556163 rs1043297150 |
39 | S>R | No |
ClinGen TOPMed |
|
|
CA379508094 rs762866124 |
40 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5910563 rs762866124 |
40 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750201530 CA5910562 |
43 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs760835753 CA5910560 COSM1604401 |
44 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs765064234 CA5910561 |
44 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1161303509 CA379508003 |
48 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5910558 rs772082895 |
48 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380608671 CA379507970 |
50 | G>C | No |
ClinGen gnomAD |
|
|
CA5910555 rs771441954 |
58 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218556076 rs985068428 |
60 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs573054247 CA5910554 |
61 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379507794 rs1443499762 |
61 | K>N | No |
ClinGen TOPMed |
|
|
CA5910553 rs773665753 |
62 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770316111 CA5910552 |
63 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218556051 rs1049811012 |
65 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 65 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379507710 rs1238645610 |
66 | H>Y | No |
ClinGen gnomAD |
|
|
CA379507669 rs1170930611 |
68 | L>H | No |
ClinGen gnomAD |
|
|
CA597459470 rs1276154893 |
69 | F>L | No |
ClinGen gnomAD |
|
|
CA5910549 rs754640868 |
71 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1321179926 CA379507617 |
72 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA379507608 rs1321179926 |
72 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs554752125 CA5910548 |
73 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA5910547 rs370762150 |
73 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs554752125 CA218556032 |
73 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA5910499 rs749250681 |
74 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5910498 rs180813484 |
77 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141723019 CA218555550 |
78 | S>C | No |
ClinGen ESP TOPMed |
|
|
rs1028434697 CA218555535 |
80 | V>L | No |
ClinGen Ensembl |
|
|
rs1306471974 CA379507221 |
81 | A>V | No |
ClinGen TOPMed |
|
|
rs1376281256 CA379507147 |
85 | H>R | No |
ClinGen gnomAD |
|
|
rs758755575 CA5910494 |
85 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218555508 rs1020151030 |
91 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 91 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141566302 CA5910493 |
92 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs998832255 CA218555497 |
94 | T>A | No |
ClinGen Ensembl |
|
|
CA5910492 rs765455809 |
94 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379506963 rs1403961086 |
95 | S>G | No |
ClinGen gnomAD |
|
|
rs1382495952 CA379506956 |
95 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA379506831 rs1378225176 |
96 | Q>R | No |
ClinGen gnomAD |
|
|
rs752982072 CA5910468 |
97 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs759151606 CA5910466 |
98 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA5910467 rs767891569 |
98 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA218555213 rs75970607 |
102 | W>L | No |
ClinGen Ensembl |
|
|
rs1590132910 CA379506592 |
104 | L>* | No |
ClinGen Ensembl |
|
|
rs938458601 CA218555204 |
106 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA379506514 rs1401021489 |
106 | Q>P | No |
ClinGen TOPMed |
|
|
CA5910463 rs201474405 |
108 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5910462 RCV001306944 rs201664625 |
108 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5910461 rs201664625 |
108 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201474405 CA5910464 |
108 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5910460 rs202067617 |
109 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776239715 CA5910459 |
109 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1174711093 CA379506374 |
112 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1174711093 CA379506376 |
112 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1425320326 CA379506337 |
114 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 114 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746018340 CA5910457 |
115 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs148282299 CA5910455 |
116 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5910456 rs757621458 |
116 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756531253 CA5910453 |
119 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1258958002 CA379506107 |
121 | H>R | No |
ClinGen gnomAD |
|
|
rs758667099 CA5910451 |
121 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755352480 CA5910450 |
122 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA5910449 rs751981193 |
123 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1209950 rs577034676 CA5910448 |
124 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA379506011 rs1397165287 |
124 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5910447 rs762703926 |
125 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772570646 CA5910446 |
128 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs931684460 CA218555056 |
128 | A>T | No |
ClinGen TOPMed |
|
|
CA379505852 rs1163386565 |
129 | L>V | No |
ClinGen TOPMed |
|
|
CA5910445 rs764821596 |
131 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA5910444 rs761615220 |
133 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 134 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145406547 CA5910442 |
135 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379505472 rs1424383011 |
137 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5910440 rs775467131 |
138 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5910439 rs150043561 |
140 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1003908948 CA218554991 |
143 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA379505242 rs1564974870 |
144 | A>S | No |
ClinGen Ensembl |
|
|
rs1355819005 CA379505196 |
145 | G>E | No |
ClinGen TOPMed |
|
|
CA5910438 rs749547252 |
145 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777675282 CA5910437 |
147 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1267657095 CA379505137 |
149 | A>V | No |
ClinGen gnomAD |
|
|
CA379505050 rs1245970758 |
153 | N>D | No |
ClinGen gnomAD |
|
|
rs373461399 CA5910436 |
153 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781657787 CA5910434 |
154 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 154 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 155 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379504968 rs1378511728 |
155 | S>Y | No |
ClinGen gnomAD |
|
|
rs1331394462 CA379504896 |
157 | Q>R | No |
ClinGen gnomAD |
|
|
CA5910432 rs751887199 |
158 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA379504849 rs1393855394 |
159 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs771932702 CA5910421 |
160 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs773501167 CA5910420 |
161 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs773501167 CA5910419 |
161 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs769971065 CA5910418 |
162 | A>T | No |
ClinGen ExAC |
|
|
rs1237545357 CA379504167 |
162 | A>V | No |
ClinGen TOPMed |
|
|
CA5910416 rs376394146 |
166 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379504095 rs1158196125 |
168 | P>L | No |
ClinGen gnomAD |
|
|
rs1379393688 CA379504074 |
170 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs769126708 CA5910414 |
171 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA218553963 rs560693223 |
172 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5910412 rs528209928 |
172 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1162947347 CA379504026 |
174 | T>A | No |
ClinGen TOPMed |
|
|
CA5910408 rs756925508 |
175 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs756925508 CA5910409 |
175 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs753377675 CA5910407 |
176 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs750295743 CA218553935 |
177 | S>C | No |
ClinGen Ensembl |
|
|
rs760650512 CA218553927 |
178 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760650512 CA5910405 |
178 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330739220 CA379503977 |
179 | V>A | No |
ClinGen TOPMed |
|
|
rs1233575388 CA379503951 |
181 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 181 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449650575 CA379503955 |
181 | Q>R | No |
ClinGen TOPMed |
|
|
CA5910400 rs774083352 |
183 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5910402 rs139351124 |
183 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5910401 rs774083352 |
183 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs770029631 CA5910399 |
184 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398838267 CA379503907 |
185 | L>M | No |
ClinGen gnomAD |
|
|
rs762068259 CA5910398 |
185 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs776638457 CA5910397 |
187 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs768750572 CA5910396 |
188 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218553912 rs1001798804 |
191 | I>T | No |
ClinGen Ensembl |
|
|
CA218553916 rs1033240714 |
191 | I>V | No |
ClinGen Ensembl |
|
|
CA218553911 rs906141169 |
193 | S>* | No |
ClinGen Ensembl |
|
|
CA218553910 rs906141169 |
193 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1478358756 CA379503697 |
197 | S>C | No |
ClinGen gnomAD |
|
|
rs144015530 CA5910394 |
199 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5910392 rs746238277 |
202 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1233314512 CA379503550 |
202 | T>S | No |
ClinGen TOPMed |
|
|
CA379503525 rs1322474794 |
203 | E>D | No |
ClinGen gnomAD |
|
|
CA379503517 rs1179849704 |
204 | R>* | No |
ClinGen TOPMed |
|
| TCGA novel | 204 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5910375 rs772600215 |
205 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379503038 rs1368537002 |
208 | W>S | No |
ClinGen TOPMed |
|
|
rs1245090883 CA379503005 |
211 | G>E | No |
ClinGen gnomAD |
|
|
CA379502948 rs1223359995 |
214 | E>G | No |
ClinGen TOPMed |
|
|
CA5910371 rs771428254 |
216 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139112919 CA5910372 |
216 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
CA379502905 rs771428254 |
216 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748893021 CA5910370 |
218 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1354148977 CA379502856 |
219 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 220 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 221 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5910368 rs755899774 |
222 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA5910369 rs755899774 |
222 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs747634102 CA5910367 |
224 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 227 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373225781 CA5910366 |
228 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379502678 rs1235904673 |
229 | S>F | No |
ClinGen gnomAD |
|
|
CA5910365 rs570047145 |
230 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163220925 CA379502660 |
230 | G>V | No |
ClinGen gnomAD |
|
|
rs1467450857 CA379502644 |
231 | G>D | No |
ClinGen TOPMed |
|
|
rs1467450857 CA379502637 |
231 | G>V | No |
ClinGen TOPMed |
|
|
rs866688296 CA218549834 |
233 | Q>* | No |
ClinGen Ensembl |
|
|
CA5910364 rs751480752 |
234 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1201418248 CA379502558 |
236 | I>T | No |
ClinGen TOPMed |
|
|
rs758201430 CA5910362 |
237 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA5910363 rs766127765 |
237 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA218549810 rs897341736 |
238 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5910361 rs181011884 |
240 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764296457 CA5910360 COSM925607 |
240 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium Hermansky-pudlak syndrome 5 (hps5) [NCI-TCGA, Cosmic, Ensembl] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5910359 rs760927340 |
241 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA379502464 rs760927340 |
241 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA218549793 rs941602459 |
242 | G>S | No |
ClinGen TOPMed |
|
|
CA5910357 rs767524835 |
243 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218549792 rs1052690898 |
244 | R>G | No |
ClinGen gnomAD |
|
|
rs760024456 CA5910356 |
245 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs927520927 CA218549781 |
245 | M>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 246 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379502294 rs1240960866 |
247 | E>K | No |
ClinGen gnomAD |
|
|
CA5910354 rs755846129 |
252 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379502136 rs1423358876 |
254 | V>A | No |
ClinGen gnomAD |
|
|
CA5910353 rs752603589 |
254 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218549767 rs752603589 |
254 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5910352 rs749667948 |
255 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA379501970 rs1175147028 |
261 | K>E | No |
ClinGen gnomAD |
|
|
rs948146037 CA218549739 |
261 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1282038022 CA379501935 |
262 | K>E | No |
ClinGen gnomAD |
|
|
rs769551753 CA5910350 |
263 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5910347 rs780709376 |
265 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1316436833 CA379501842 |
266 | L>S | No |
ClinGen gnomAD |
|
|
rs1282204596 CA379501811 |
267 | P>L | No |
ClinGen gnomAD |
|
|
rs1398084248 CA379501754 |
268 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1368555728 CA379501789 |
268 | P>S | No |
ClinGen gnomAD |
|
|
CA379501289 rs1425569193 |
276 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1425569193 CA379501288 |
276 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA379501274 rs1564965760 |
278 | P>L | No |
ClinGen Ensembl |
|
|
rs746494869 CA5910326 |
279 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs139266933 CA5910324 |
282 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5910323 rs745838536 |
284 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5910322 rs778613615 |
285 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs757017609 CA5910321 |
286 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 286 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5910319 rs148986553 |
289 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5910318 rs755270328 |
290 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1306063834 CA379501179 |
293 | P>L | No |
ClinGen gnomAD |
|
|
rs1315455318 CA379501171 |
294 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs766592493 CA5910315 |
297 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs766592493 CA379501156 |
297 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA379501147 rs1382927128 |
298 | L>R | No |
ClinGen gnomAD |
|
|
CA5910314 rs763510216 |
299 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 300 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379500010 rs1191854386 |
301 | H>R | No |
ClinGen TOPMed |
|
|
CA5910283 rs775138085 |
302 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767216538 CA5910282 |
306 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA218545229 rs3993313 |
308 | E>K | No |
ClinGen Ensembl |
|
|
rs1554938988 CA5910280 |
310 | G>A | No |
ClinGen Ensembl |
|
|
CA379499668 rs1352253134 |
311 | I>M | No |
ClinGen gnomAD |
|
|
rs191707022 CA5910278 |
312 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5910277 rs770754760 |
313 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA218545190 rs866631273 |
314 | F>N | No |
ClinGen Ensembl |
|
|
rs1314748374 CA379499527 |
317 | Q>H | No |
ClinGen gnomAD |
|
|
CA5910276 rs537363272 |
320 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1344578343 CA379499471 |
320 | Q>R | No |
ClinGen gnomAD |
|
|
CA5910275 rs772846783 |
324 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379499367 rs1401724866 |
325 | S>G | No |
ClinGen gnomAD |
|
|
rs769631897 CA5910273 |
326 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5910257 rs773210514 |
329 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218545167 rs148703622 |
329 | D>N | No |
ClinGen ESP TOPMed |
|
|
rs910077608 CA218543979 |
330 | I>T | No |
ClinGen TOPMed |
|
|
CA5910255 rs761693456 |
332 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5910256 rs769673903 |
332 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1338278363 CA379498580 RCV001302895 |
333 | V>M | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA5910253 rs772399992 |
334 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5910252 rs746114670 |
335 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379498528 rs1338715860 |
337 | R>K | No |
ClinGen TOPMed |
|
|
CA379498517 rs1202912780 |
337 | R>S | No |
ClinGen TOPMed |
|
|
CA379498498 COSM4145616 rs1201886200 |
339 | E>* | thyroid [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs770247830 CA5910250 |
339 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5910249 rs149512871 |
340 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5910248 rs559876350 |
343 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA218543943 rs559876350 |
343 | L>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5910247 rs756656537 |
344 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs754589107 CA5910244 |
345 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5910246 rs138066918 |
345 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379498415 rs1331063664 |
347 | G>E | No |
ClinGen gnomAD |
|
|
rs1564954633 CA379498401 |
349 | V>I | No |
ClinGen Ensembl |
|
|
CA218543895 rs1012265788 |
351 | H>D | No |
ClinGen Ensembl |
|
|
rs781088844 CA218543887 |
352 | L>V | No |
ClinGen Ensembl |
|
|
CA218543873 rs959488816 |
354 | L>M | No |
ClinGen Ensembl |
|
|
CA379498334 rs1590094291 |
355 | I>T | No |
ClinGen Ensembl |
|
|
CA5910239 rs765233258 |
355 | I>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001313912 CA218543851 rs897026690 |
356 | S>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5910237 rs776517218 |
357 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5910236 rs143073506 |
359 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774619545 CA379498298 |
359 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5910232 rs150200184 |
363 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA5910231 rs199733783 COSM925606 |
363 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA218543806 rs1010724201 |
366 | R>* | No |
ClinGen TOPMed |
|
|
CA5910227 rs781472058 |
366 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755354385 CA5910226 |
368 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779749647 CA5910224 |
371 | N>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 371 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379498166 rs1427174523 |
372 | L>F | No |
ClinGen gnomAD |
|
|
CA218543791 rs376783016 |
373 | A>G | No |
ClinGen ESP TOPMed |
|
|
CA218543789 rs376783016 |
373 | A>V | No |
ClinGen ESP TOPMed |
|
|
rs761598432 CA5910223 |
375 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5910222 rs749923910 |
375 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379498141 rs761598432 |
375 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218543769 rs1049688903 |
376 | T>A | No |
ClinGen TOPMed |
|
|
CA5910221 rs764861032 |
376 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403155629 CA379498107 |
378 | C>* | No |
ClinGen Ensembl |
|
|
rs1382808325 CA379498117 |
378 | C>S | No |
ClinGen gnomAD |
|
|
rs1463604193 CA379498112 |
378 | C>Y | No |
ClinGen TOPMed |
|
|
rs1232143512 CA379498064 |
382 | N>S | No |
ClinGen gnomAD |
|
|
CA379498035 rs1490759456 |
384 | V>F | No |
ClinGen gnomAD |
|
|
CA379498036 rs1490759456 |
384 | V>L | No |
ClinGen gnomAD |
|
|
CA379497994 rs1413288113 |
387 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 387 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269540350 CA379497990 |
388 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA218543754 rs568741411 |
388 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA379497844 rs1590090025 |
389 | A>T | No |
ClinGen Ensembl |
|
|
rs1446437238 CA379497802 |
391 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 391 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5910204 rs565142020 |
391 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379497794 rs565142020 |
391 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753465573 CA5910203 |
392 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753465573 CA218542926 |
392 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 394 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764092787 CA5910201 |
394 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222281426 CA379497716 |
395 | A>E | No |
ClinGen gnomAD |
|
|
CA5910197 rs140933423 |
406 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 406 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778532780 CA5910196 |
407 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765506025 CA5910195 |
408 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1590089879 CA379497389 |
408 | G>S | No |
ClinGen Ensembl |
|
|
rs1175427684 CA379497320 |
410 | Y>* | No |
ClinGen gnomAD |
|
|
CA218542836 rs1026871655 |
410 | Y>H | No |
ClinGen TOPMed |
|
|
rs572961716 CA5910193 |
411 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA218542829 rs1012760914 |
411 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5910191 rs747490409 |
412 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5910192 rs148177371 |
412 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379497215 rs1375704360 |
416 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA379497157 rs1308374182 |
418 | E>G | No |
ClinGen TOPMed |
|
|
rs1461927795 CA379497173 |
418 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778703386 CA5910187 |
420 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1296945213 CA379497013 |
424 | F>L | No |
ClinGen gnomAD |
|
|
rs757008976 CA5910186 |
425 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA379496972 rs1380413664 |
426 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA379496946 rs1360713769 |
427 | L>F | No |
ClinGen gnomAD |
|
|
CA379496890 rs1490572358 |
430 | A>G | No |
ClinGen TOPMed |
|
|
rs1267382352 CA379496901 |
430 | A>P | No |
ClinGen TOPMed |
|
|
rs1454301042 CA379496839 |
433 | S>G | No |
ClinGen gnomAD |
|
|
rs140664361 CA5910183 |
435 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5910182 rs752579216 |
435 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753662375 CA218542751 |
437 | S>Y | No |
ClinGen Ensembl |
|
|
CA5910181 rs767281046 |
438 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1388457477 CA379496136 |
441 | H>L | No |
ClinGen gnomAD |
|
| TCGA novel | 441 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769197301 CA5910157 |
442 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1176984073 CA379495932 |
442 | E>D | No |
ClinGen gnomAD |
|
|
rs754988013 CA5910154 |
445 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751336740 CA5910153 |
447 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs560730650 CA5910151 |
448 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs560730650 CA5910152 |
448 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200743312 CA218542249 |
449 | S>P | No |
ClinGen Ensembl |
|
|
CA5910150 rs754065494 |
450 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379495763 rs754065494 |
450 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764177232 CA5910149 |
452 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA5910147 rs575330130 |
453 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1590087817 CA379495707 |
454 | I>V | No |
ClinGen Ensembl |
|
|
CA5910146 rs376087658 |
455 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765460075 CA218542221 |
457 | S>T | No |
ClinGen Ensembl |
|
|
rs1304910468 CA597491214 |
458 | R>S* | No |
ClinGen gnomAD |
|
|
CA218542216 rs937284600 |
459 | R>K | No |
ClinGen TOPMed |
|
|
rs563393844 CA5910145 |
460 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379495588 rs1231934239 |
461 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 462 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200162069 CA5910144 |
463 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 466 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364609367 CA379495539 |
467 | S>P | No |
ClinGen gnomAD |
|
|
rs1564950307 CA379495529 |
468 | C>F | No |
ClinGen Ensembl |
|
|
rs1389792281 CA379495526 |
469 | S>T | No |
ClinGen TOPMed |
|
|
CA379495520 rs1471829586 |
470 | L>I | No |
ClinGen gnomAD |
|
|
CA5910142 rs201582551 |
471 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA379495485 rs1200837988 |
474 | T>I | No |
ClinGen gnomAD |
|
|
CA379495472 rs1266133402 |
477 | E>K | No |
ClinGen gnomAD |
|
|
rs201548310 CA5910139 |
485 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs747584462 CA5910138 |
487 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747584462 CA379495398 |
487 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937282752 CA218542168 |
488 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1399462384 CA379495384 |
489 | E>K | No |
ClinGen gnomAD |
|
|
rs1590087535 CA379495365 |
491 | D>A | No |
ClinGen Ensembl |
|
|
CA379495352 rs746982513 |
493 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5910135 rs746982513 |
493 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA5910133 rs762292971 |
494 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762292971 CA5910134 |
494 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288547226 CA379495337 |
495 | Q>* | No |
ClinGen gnomAD |
|
|
rs1590087460 CA379495335 |
495 | Q>R | No |
ClinGen Ensembl |
|
|
rs750276551 CA5910132 |
497 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs777853120 CA5910131 |
498 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA379495301 rs777853120 |
498 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs756408229 CA5910130 |
499 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA5910129 rs752669506 |
500 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5910126 rs752123144 |
502 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1207772519 CA379495224 |
503 | E>* | No |
ClinGen gnomAD |
|
|
CA379495207 rs1463259855 |
503 | E>G | No |
ClinGen gnomAD |
|
|
rs1171252796 CA379494493 |
504 | D>E | No |
ClinGen gnomAD |
|
|
rs779092535 CA5910087 |
504 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs143265437 CA5910086 |
505 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5910085 rs754269779 |
506 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA218541674 rs911574496 |
506 | V>I | No |
ClinGen Ensembl |
|
|
rs763705345 CA5910084 |
507 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1285136200 CA379494394 |
507 | S>P | No |
ClinGen TOPMed |
|
|
rs760369654 CA5910083 |
508 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA218541658 rs796731569 |
508 | H>Y | No |
ClinGen Ensembl |
|
|
CA5910081 rs767017968 |
509 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1323633617 CA379494321 |
510 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 510 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379494316 rs1323633617 |
510 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA379494076 rs1159884798 |
515 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 516 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770838422 CA379494034 |
517 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379493969 rs1489969567 |
519 | E>K | No |
ClinGen TOPMed |
|
|
CA5910077 rs762773556 |
521 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs375337479 CA5910076 |
523 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772210311 CA5910072 |
524 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs140305063 CA5910070 |
525 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5910071 rs745994231 |
525 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757744690 CA379493877 |
526 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590084935 CA379493882 |
526 | I>V | No |
ClinGen Ensembl |
|
|
CA379493843 rs1346699388 |
529 | P>L | No |
ClinGen gnomAD |
|
|
CA379493831 rs1435153862 |
530 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs755697317 CA5910066 |
531 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1211491095 CA379493820 |
532 | S>P | No |
ClinGen gnomAD |
|
|
rs1304804916 CA379493795 |
533 | P>A | No |
ClinGen TOPMed |
|
|
rs1027921232 CA218541587 |
534 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 534 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277237102 CA379493723 |
538 | S>F | No |
ClinGen TOPMed |
|
|
CA379493730 rs1387703812 |
538 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 538 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139442243 CA218541577 |
542 | V>D | No |
ClinGen ESP |
|
|
rs767132037 CA5910064 |
543 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767132037 CA379493685 |
543 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767132037 CA379493686 |
543 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5910063 rs759078419 |
544 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs751067964 CA5910062 |
545 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208710795 CA379493475 |
546 | V>L | No |
ClinGen gnomAD |
|
|
rs780864594 CA5910046 |
547 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1274241030 CA379493455 |
548 | S>R | No |
ClinGen gnomAD |
|
|
CA379493437 rs1304823412 |
549 | F>C | No |
ClinGen TOPMed |
|
|
rs576840531 CA5910045 |
551 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5910044 rs576840531 |
551 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA218541053 rs1037863397 |
551 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5910043 rs765841098 |
552 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379687029 CA379493369 |
557 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 559 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218540994 rs938196195 |
559 | T>S | No |
ClinGen TOPMed |
|
|
rs750401679 CA5910041 |
560 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1356217315 CA379493349 |
560 | L>P | No |
ClinGen gnomAD |
|
|
CA379493342 rs1169085027 |
561 | H>R | No |
ClinGen gnomAD |
|
|
rs150421998 CA5910039 |
562 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150421998 CA5910038 |
562 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150421998 CA5910040 |
562 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1424599504 CA379493336 |
563 | S>R | No |
ClinGen gnomAD |
|
|
rs749425950 CA5910033 |
565 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5910034 rs770928566 |
565 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552753964 CA218540939 |
568 | V>A | No |
ClinGen 1000Genomes TOPMed |
|
|
CA379493290 rs1564946459 |
570 | P>S | No |
ClinGen Ensembl |
|
|
rs770322873 CA5910031 |
571 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA379493273 rs1331807566 |
573 | R>G | No |
ClinGen gnomAD |
|
|
rs1247793544 CA379493266 |
574 | G>S | No |
ClinGen gnomAD |
|
|
rs754615360 CA379493258 |
575 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs781429199 CA5910028 |
575 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5910027 rs754615360 |
575 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs746650170 CA5910026 |
576 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA218540886 rs955800508 |
577 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs779563270 CA5910025 |
579 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305026726 CA379493227 |
579 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 579 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379493170 rs1368128947 |
582 | D>V | No |
ClinGen gnomAD |
|
|
rs376449488 CA5910024 |
583 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139680176 CA5910023 |
585 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765237222 CA5910022 |
586 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1471890957 CA379493029 |
589 | P>L | No |
ClinGen gnomAD |
|
|
CA379493039 rs1178411600 |
589 | P>S | No |
ClinGen TOPMed |
|
|
CA5910019 rs763827548 |
590 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1264520309 CA379492962 |
592 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 592 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5910017 rs759744831 |
593 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs774422752 CA5910016 |
594 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA379492028 rs1564942929 |
595 | E>D | No |
ClinGen Ensembl |
|
|
CA5909993 rs200836825 |
596 | E>K | Variant assessed as Somatic; 0.001201 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5909992 rs765301410 |
597 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1248284960 CA379491990 |
598 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs142793392 CA5909990 |
602 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs909579087 CA218539558 |
603 | P>L | No |
ClinGen Ensembl |
|
|
rs1257986001 CA379491946 |
604 | P>T | No |
ClinGen gnomAD |
|
|
rs1201025813 CA379491939 |
605 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA218539556 rs985043512 |
605 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1201025813 CA379491938 |
605 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs760920037 CA5909988 |
608 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs760920037 CA379491918 |
608 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1590075506 CA379491910 |
609 | R>K | No |
ClinGen Ensembl |
|
|
CA379491898 rs1590075487 |
610 | F>L | No |
ClinGen Ensembl |
|
|
rs1230723605 CA379491904 |
610 | F>L | No |
ClinGen gnomAD |
|
|
rs776047415 CA5909987 |
611 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA379491890 rs1297189261 |
612 | E>K | No |
ClinGen gnomAD |
|
|
COSM4145614 CA379491878 rs1342693800 |
613 | L>P | thyroid [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1333813289 CA379491874 |
614 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs570966688 CA5909985 |
618 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379491809 rs1395740431 |
620 | A>V | No |
ClinGen gnomAD |
|
|
CA379491629 rs1184327220 |
625 | Q>R | No |
ClinGen gnomAD |
|
|
CA379491586 rs1472873376 |
627 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA379491583 rs1472873376 |
627 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA379491530 rs1309055527 |
631 | F>L | No |
ClinGen TOPMed |
|
|
CA5909958 rs746874798 |
631 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590072681 CA379491498 |
632 | E>D | No |
ClinGen Ensembl |
|
|
rs1232131741 CA379491506 |
632 | E>K | No |
ClinGen TOPMed |
|
|
rs768204584 CA5909951 |
641 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5909949 rs781166596 |
647 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218538933 rs1010866748 |
647 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 649 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218538928 rs199819778 |
649 | K>R | No |
ClinGen gnomAD |
|
|
CA218538925 rs199819778 |
649 | K>T | No |
ClinGen gnomAD |
|
|
CA5909948 rs765898093 |
652 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 652 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379491138 rs1411175460 |
653 | M>L | No |
ClinGen gnomAD |
|
|
rs1411175460 CA379491143 |
653 | M>V | No |
ClinGen gnomAD |
|
|
CA379491122 rs1179872960 |
654 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA5909947 rs762693856 |
656 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 658 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1247342646 CA379491053 |
658 | G>V | No |
ClinGen gnomAD |
|
|
rs1488691820 CA379491004 |
661 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA379491013 rs1185842548 |
661 | D>N | No |
ClinGen TOPMed |
|
|
rs1283797744 CA379490978 |
663 | D>H | No |
ClinGen gnomAD |
|
|
rs772527786 CA5909945 |
666 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5909944 rs769356274 |
667 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5909943 rs747718129 |
668 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218538899 rs998608924 |
673 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA379490689 rs1435039490 |
676 | V>D | No |
ClinGen gnomAD |
|
|
rs1371056131 CA379490698 |
676 | V>I | No |
ClinGen TOPMed |
|
|
CA379490666 rs1322077935 |
677 | N>K | No |
ClinGen gnomAD |
|
|
rs1435582066 CA379490664 |
678 | E>K | No |
ClinGen gnomAD |
|
|
rs779921624 CA5909939 |
679 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA379490640 rs1387595013 |
679 | S>T | No |
ClinGen gnomAD |
|
|
CA5909937 rs749532571 |
680 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA218538873 rs1004221754 |
681 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756212285 CA5909935 |
682 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA379490549 rs1294388976 |
683 | I>L | No |
ClinGen TOPMed |
|
| TCGA novel | 683 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218538860 rs894003198 |
685 | D>E | No |
ClinGen Ensembl |
|
|
CA5909933 rs768114901 |
685 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752862842 CA5909934 |
685 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752862842 CA379490507 |
685 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755563184 CA5909932 |
688 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 689 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218538853 rs564959505 |
689 | E>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs751928826 CA5909931 |
689 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1252284588 CA379490308 |
690 | K>N | No |
ClinGen TOPMed |
|
|
rs766765974 CA5909930 |
690 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5909929 rs762453342 |
691 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5909927 rs1311058707 |
693 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
RCV000501302 rs753514793 RCV001857106 CA218538841 |
695 | S>F | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA379490179 rs1435217185 |
695 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 698 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379490041 rs1430565110 |
700 | E>Q | No |
ClinGen TOPMed |
|
|
CA218538828 rs1057359883 |
702 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs181052009 CA5909922 |
706 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1169243529 CA379489921 |
707 | C>R | No |
ClinGen gnomAD |
|
|
rs781583771 CA218538825 |
708 | E>Q | No |
ClinGen Ensembl |
|
|
rs1448948194 CA379489865 |
709 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA218538821 rs927578042 |
711 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs760637587 CA5909921 |
711 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA5909920 rs149564550 |
712 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745710272 CA5909918 |
714 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA5909917 rs138115381 |
714 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755306193 CA5909916 |
718 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5909915 rs748189907 |
719 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA5909914 rs781452411 |
721 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs375661013 CA5909913 |
721 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752116093 CA5909912 |
722 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5909911 rs780480120 |
723 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA5909910 rs758788578 |
724 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs188529016 CA218538779 |
724 | C>R | No |
ClinGen 1000Genomes |
|
|
CA5909909 rs750795578 |
726 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915100627 CA218538769 |
726 | P>T | No |
ClinGen TOPMed |
|
|
CA379489611 rs1412721913 |
727 | C>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 727 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150487992 CA5909907 |
728 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA218538751 rs868316401 |
728 | A>V | No |
ClinGen Ensembl |
|
|
rs557601138 CA5909906 |
731 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760549604 CA5909904 |
732 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs775486387 CA5909903 |
733 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5909901 rs774037351 |
734 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5909900 rs774037351 |
734 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150687707 CA5909899 |
735 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1205410763 CA379489549 |
738 | A>T | No |
ClinGen gnomAD |
|
|
CA5909897 rs781358565 |
738 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA379489528 rs1453558258 |
741 | T>A | No |
ClinGen TOPMed |
|
|
rs184087567 CA5909895 |
742 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201669763 CA218538700 |
744 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA379489498 rs1289072749 |
745 | L>F | No |
ClinGen gnomAD |
|
|
rs780582558 CA5909894 |
748 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218538692 rs1028196019 |
749 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA379489474 rs1352086417 |
749 | V>I | No |
ClinGen gnomAD |
|
|
CA379489473 rs1352086417 |
749 | V>L | No |
ClinGen gnomAD |
|
|
CA379489445 rs1342935578 |
751 | N>K | No |
ClinGen TOPMed |
|
|
CA5909891 rs779284876 |
754 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs199752136 CA5909890 |
755 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5909887 rs760229257 |
757 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760229257 CA5909888 |
757 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5909889 rs753502858 |
757 | T>P | No |
ClinGen ExAC gnomAD |
|
|
RCV001324476 rs1439135480 CA379489366 |
758 | S>G | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1015542599 CA218538682 |
759 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA218538679 rs766858378 |
760 | H>L | No |
ClinGen Ensembl |
|
| TCGA novel | 762 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379489311 rs1413131365 |
762 | D>N | No |
ClinGen gnomAD |
|
|
CA379489277 rs1590071187 |
764 | T>A | No |
ClinGen Ensembl |
|
|
rs1418107072 CA379489261 |
765 | L>S | No |
ClinGen gnomAD |
|
|
rs1418107072 CA379489259 |
765 | L>W | No |
ClinGen gnomAD |
|
|
CA5909885 rs192019652 |
766 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379489234 rs1488522288 |
767 | Q>* | No |
ClinGen gnomAD |
|
|
rs1272057802 CA379489209 |
768 | Y>* | No |
ClinGen gnomAD |
|
|
rs998495172 CA218538678 |
768 | Y>C | No |
ClinGen TOPMed |
|
|
CA218538674 rs902744406 |
769 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5909884 rs759422525 |
771 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774127949 CA5909883 |
773 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200566461 CA5909882 |
776 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA379489105 rs1303685757 |
777 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs762895451 CA5909881 |
778 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs776985392 CA5909880 |
781 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA5909879 rs769042407 |
784 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775458390 CA5909877 |
787 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs772596178 CA5909876 |
787 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1452096067 CA379488995 |
788 | K>E | No |
ClinGen gnomAD |
|
|
rs746366207 CA5909875 |
788 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs200872830 CA379488964 |
790 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200872830 CA5909873 |
790 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA218538622 rs893964900 |
792 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5909870 rs749722278 |
793 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1027140529 CA218538604 |
795 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA379488899 rs1027140529 |
795 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA379488810 rs1257603561 |
799 | S>G | No |
ClinGen gnomAD |
|
|
CA379488791 rs1234208017 |
800 | N>T | No |
ClinGen gnomAD |
|
|
CA5909867 rs752210176 |
802 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA5909868 rs755743494 |
802 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA379488761 rs1320477481 |
803 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 803 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459578335 CA379488745 |
804 | V>A | No |
ClinGen TOPMed |
|
|
rs1328291554 CA379488693 |
809 | I>V | No |
ClinGen TOPMed |
|
|
CA5909865 rs766940258 |
810 | E>G | No |
ClinGen ExAC gnomAD |
|
|
COSM84049 CA379488658 rs1350847989 |
812 | L>F | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA5909864 rs141346309 |
813 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376541410 CA218578896 |
816 | A>V | No |
ClinGen ESP TOPMed |
|
|
CA379521019 rs1474759348 |
820 | P>A | No |
ClinGen gnomAD |
|
|
CA379520915 rs1184593692 |
823 | M>I | No |
ClinGen gnomAD |
|
|
rs368884599 RCV000514517 CA5909845 |
824 | E>K | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
CA379520846 rs1194175926 |
825 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA379520843 rs1194175926 |
825 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5909843 rs566132063 |
826 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750207205 CA5909842 |
827 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA379520727 rs1369172432 |
829 | D>A | No |
ClinGen gnomAD |
|
|
CA5909841 rs764949778 |
830 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA379520627 rs1289700206 |
833 | R>T | No |
ClinGen TOPMed |
|
| TCGA novel | 835 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5909840 rs760894244 |
836 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5909838 rs547917823 |
840 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA379520342 rs142090060 |
841 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5909835 rs149039105 |
842 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5909836 rs774435239 |
842 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5909834 rs373182503 |
844 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379520211 rs373182503 |
844 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5909831 rs562133578 |
849 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5909829 rs768401411 |
852 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA218578812 rs987312018 |
852 | A>V | No |
ClinGen TOPMed |
|
|
CA379519904 rs1382853592 |
853 | T>I | No |
ClinGen TOPMed |
|
|
CA5909828 rs746470987 |
853 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs200189057 CA5909826 |
854 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs779745234 COSM3808915 CA5909827 |
854 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs145010917 CA5909812 |
856 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776445879 CA5909811 |
859 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392316282 CA379519578 |
860 | G>A | No |
ClinGen gnomAD |
|
|
rs1303444154 CA379519593 |
860 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 861 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1373111138 CA379519516 |
862 | S>C | No |
ClinGen gnomAD |
|
|
rs746667223 CA5909810 |
864 | L>V | No |
ClinGen ExAC |
|
|
CA5909809 rs745438305 |
865 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA5909808 COSM925601 rs745438305 |
865 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1431468674 CA379519396 |
866 | S>F | No |
ClinGen gnomAD |
|
|
CA5909807 rs202190047 |
866 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs757270254 CA5909806 |
867 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs748994644 CA5909805 |
869 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs777626702 CA5909803 |
870 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs751766551 CA5909801 |
872 | P>L | No |
ClinGen ExAC gnomAD |
|
|
RCV001344603 rs1296919459 CA379519173 |
873 | S>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 873 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379519148 rs1187598113 |
875 | L>S | No |
ClinGen gnomAD |
|
|
rs758438791 CA5909799 |
876 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5909798 rs750562402 |
877 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA379519019 rs1443732962 |
880 | I>T | No |
ClinGen gnomAD |
|
|
CA379518934 rs1280607253 |
883 | C>S | No |
ClinGen gnomAD |
|
|
CA218578620 rs1038048486 |
884 | H>R | No |
ClinGen TOPMed |
|
|
CA5909796 rs375320685 |
885 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379518835 rs1345104174 |
886 | H>D | No |
ClinGen gnomAD |
|
|
CA5909795 rs776795991 |
887 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA218578600 rs985841059 |
891 | L>F | No |
ClinGen Ensembl |
|
|
rs1268145645 CA379518718 |
893 | Y>C | No |
ClinGen gnomAD |
|
|
CA5909794 rs764567111 |
896 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA5909793 rs761180374 |
902 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201313717 CA218578573 |
904 | D>E | No |
ClinGen Ensembl |
|
|
rs1590059865 CA379518504 |
905 | Q>E | No |
ClinGen Ensembl |
|
|
rs771894303 CA5909791 |
906 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379517177 rs375162837 CA5909757 |
907 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA218577991 rs201625330 |
907 | S>P | No |
ClinGen 1000Genomes |
|
|
CA379517171 rs1371252666 |
908 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1590057059 CA379517024 |
917 | E>D | No |
ClinGen Ensembl |
|
|
CA379517027 rs1305330020 |
917 | E>G | No |
ClinGen gnomAD |
|
|
CA5909753 rs765983446 |
919 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA218577956 rs751418209 |
920 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs78704181 CA218577947 |
926 | L>F | No |
ClinGen Ensembl |
|
|
CA5909751 rs769677556 |
930 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5909750 rs769677556 |
930 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5909749 rs761741245 |
931 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405118538 CA379516750 |
932 | A>S | No |
ClinGen gnomAD |
|
|
rs1194986905 CA379516747 |
932 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5909748 rs776354283 |
933 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA218577926 rs928829573 |
934 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA218577925 rs928829573 |
934 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA379516665 rs1211816230 |
935 | S>G | No |
ClinGen gnomAD |
|
|
rs1564931103 CA379516651 |
936 | T>A | No |
ClinGen Ensembl |
|
|
CA379516642 rs1486719826 |
937 | S>G | No |
ClinGen gnomAD |
|
|
rs768485498 CA5909747 |
937 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5909746 rs746846715 |
940 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5909744 rs779169623 |
941 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379515936 rs1171236720 |
946 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769986309 CA5909711 |
950 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1590053042 CA379515781 |
951 | L>M | No |
ClinGen Ensembl |
|
|
CA5909710 rs748275573 |
951 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA379515726 rs1346561798 |
952 | L>R | No |
ClinGen TOPMed |
|
|
CA379515623 rs1426511060 |
955 | G>D | No |
ClinGen gnomAD |
|
|
CA5909708 rs200529277 |
957 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA218576986 rs200529277 |
957 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5909707 rs747358888 |
957 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA218576970 rs747358888 |
957 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA218576963 RCV001321526 rs144453656 |
962 | H>P | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
CA218576960 rs144453656 |
962 | H>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1196300006 CA379515255 |
962 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1251246229 CA379515059 |
966 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 970 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764938295 CA5909703 |
971 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs984969686 CA218576941 |
972 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA379514880 rs984969686 |
972 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1414979679 CA379514835 |
974 | E>Q | No |
ClinGen gnomAD |
|
|
CA5909701 rs753396295 |
976 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756729819 CA5909702 |
976 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs764047205 CA5909700 |
978 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs760563399 CA5909699 |
979 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA379514552 rs1396677274 |
979 | I>V | No |
ClinGen gnomAD |
|
|
rs1564928969 CA379514464 |
980 | C>Y | No |
ClinGen Ensembl |
|
|
CA379514389 rs1460446684 |
981 | R>T | No |
ClinGen gnomAD |
|
|
rs775290450 CA5909698 |
982 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA218576896 rs1022519739 |
983 | C>R | No |
ClinGen TOPMed |
|
|
rs1290401440 CA379514329 |
983 | C>Y | No |
ClinGen TOPMed |
|
|
CA379513707 rs1286840604 |
988 | G>E | No |
ClinGen gnomAD |
|
|
rs753352624 CA5909683 |
988 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA379513663 rs1206494644 |
991 | I>L | No |
ClinGen gnomAD |
|
|
rs1278391435 CA379513636 |
992 | L>H | No |
ClinGen gnomAD |
|
|
rs1350984717 CA379513645 |
992 | L>I | No |
ClinGen gnomAD |
|
|
CA379513622 rs1237336281 |
993 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 995 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218576114 rs763218119 |
996 | L>R | No |
ClinGen Ensembl |
|
|
rs1440146153 CA379513550 |
997 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1215249472 CA379513540 |
998 | R>G | No |
ClinGen TOPMed |
|
|
rs752569297 CA5909680 |
998 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1302884354 CA379513511 |
1000 | R>I | No |
ClinGen TOPMed |
|
|
CA5909678 rs767601081 |
1002 | A>G | No |
ClinGen ExAC TOPMed |
|
|
CA379513486 rs767601081 |
1002 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA5909677 rs376985261 |
1005 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3769264 rs773572686 CA5909676 |
1005 | N>S | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5909675 rs765515709 |
1006 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA218576087 rs928885248 |
1006 | I>V | No |
ClinGen TOPMed |
|
|
rs1486527292 CA379513432 |
1008 | Y>H | No |
ClinGen TOPMed |
|
|
rs1232033270 CA379513410 |
1010 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5909674 rs762130841 |
1012 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs181682094 CA5909673 |
1014 | L>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1020 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5909654 rs760649247 |
1020 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1234000291 CA379512448 |
1023 | P>A | No |
ClinGen TOPMed |
|
|
CA5909652 rs772531567 |
1023 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1024 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs911262669 CA379512423 |
1024 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs774643223 CA5909650 |
1024 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs911262669 CA218575387 |
1024 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs141876368 CA5909651 |
1024 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs141876368 CA379512426 |
1024 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 1025 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA379512397 rs1201579542 |
1025 | T>N | No |
ClinGen TOPMed |
|
|
CA5909649 rs771275217 |
1025 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA5909645 rs747567868 |
1029 | W>R | No |
ClinGen ExAC |
|
|
rs780853469 CA5909644 |
1030 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA5909643 rs754905012 |
1031 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA218575345 rs748698252 |
1031 | L>P | No |
ClinGen gnomAD |
|
|
CA5909641 rs145096977 |
1033 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758098368 CA5909639 |
1037 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5909638 rs750283507 |
1038 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA379512044 rs1467505191 |
1038 | S>N | No |
ClinGen TOPMed |
|
|
rs764173560 CA5909637 |
1039 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760989387 CA379511994 |
1040 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1040 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760989387 CA5909636 |
1040 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs371347052 CA218575332 |
1041 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371347052 CA5909635 |
1041 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA379511955 rs1226877146 |
1042 | R>T | No |
ClinGen gnomAD |
|
|
CA379511928 rs1455198082 |
1043 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs767602593 CA5909634 |
1045 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA379511899 rs927207558 |
1046 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs927207558 CA218575323 |
1046 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs774805059 CA5909632 |
1046 | Q>P | No |
ClinGen ExAC gnomAD |
|
| rs1564923530 | 1046 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774805059 CA5909633 |
1046 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1398755889 CA379511878 |
1047 | E>V | No |
ClinGen gnomAD |
|
|
CA379511861 rs1328265665 |
1048 | S>* | No |
ClinGen gnomAD |
|
|
rs1462294020 CA379511826 |
1051 | G>R | No |
ClinGen gnomAD |
|
|
rs1417672771 CA379511779 |
1053 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA218575318 rs957221206 |
1054 | S>T | No |
ClinGen gnomAD |
|
|
rs1409479051 CA379511722 |
1058 | S>F | No |
ClinGen gnomAD |
|
|
CA5909629 rs773654334 |
1059 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1236289310 CA379511714 |
1059 | P>R | No |
ClinGen gnomAD |
|
|
CA379511696 rs980000100 |
1061 | N>D | No |
ClinGen TOPMed |
|
|
rs980000100 CA218575302 |
1061 | N>H | No |
ClinGen TOPMed |
|
|
rs1235647262 CA379511693 |
1061 | N>S | No |
ClinGen Ensembl |
|
|
rs1264688767 CA379511685 |
1062 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA379511680 rs1260655039 |
1063 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 1066 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA218575295 rs1032755164 |
1068 | L>R | No |
ClinGen Ensembl |
|
|
rs116394570 CA5909625 |
1073 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1564923249 CA379511574 |
1073 | M>T | No |
ClinGen Ensembl |
|
|
RCV000879043 rs116394570 CA5909624 |
1073 | M>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1283456280 CA379511558 |
1074 | G>D | No |
ClinGen Ensembl |
|
|
CA379511549 rs1306259495 |
1076 | D>A | No |
ClinGen gnomAD |
|
|
CA5909623 rs780119665 |
1076 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780119665 CA5909622 |
1076 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA379511547 rs1306259495 |
1076 | D>V | No |
ClinGen gnomAD |
|
|
rs756237092 CA5909619 |
1077 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA5909618 rs756237092 |
1077 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs751658163 CA5909614 |
1083 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA5909613 rs766751200 |
1084 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763516906 CA5909612 |
1085 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411126781 CA379511455 |
1087 | L>P | No |
ClinGen TOPMed |
|
|
rs765621578 CA5909610 |
1088 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261526707 CA379511426 |
1090 | E>G | No |
ClinGen gnomAD |
|
|
rs1160694020 CA379511421 |
1091 | L>M | No |
ClinGen TOPMed |
|
|
rs1282617985 CA379511387 |
1094 | K>Q | No |
ClinGen gnomAD |
|
|
CA5909605 rs200281681 |
1100 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs745835606 CA5909604 |
1102 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA5909603 rs778777981 |
1106 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1175007299 CA379511237 |
1106 | E>D | No |
ClinGen gnomAD |
|
|
CA218575222 rs1047784788 |
1106 | E>K | No |
ClinGen gnomAD |
|
|
CA379511207 rs1175073730 |
1107 | K>N | No |
ClinGen gnomAD |
|
|
CA379511175 rs1435199065 |
1109 | Q>* | No |
ClinGen gnomAD |
|
|
rs1377004880 CA379511163 |
1110 | R>K | No |
ClinGen gnomAD |
|
|
CA5909576 rs758473248 |
1111 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs750516587 CA379509188 |
1114 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750516587 CA5909575 |
1114 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287293952 CA379509187 |
1114 | Q>R | No |
ClinGen gnomAD |
|
|
CA379509146 rs1387487439 |
1117 | L>V | No |
ClinGen TOPMed |
|
|
CA5909573 rs757870701 |
1121 | D>N | No |
ClinGen ExAC |
|
|
CA379509039 rs201017833 |
1122 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201017833 CA5909571 |
1122 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA379508910 rs1373128507 |
1130 | A>Q | No |
ClinGen gnomAD |
1 associated diseases with Q9UPZ3
[MIM: 614074]: Hermansky-Pudlak syndrome 5 (HPS5)
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. {ECO:0000269|PubMed:15296495}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. {ECO:0000269|PubMed:15296495}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9UPZ3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9UPZ3 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| BLOC-2 complex | A protein complex required for the biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules. The human complex contains the Hps3, Hps5, and Hps6 proteins; the mouse complex contains ru2 and ru. |
| 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. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| blood coagulation | The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. |
| developmental pigmentation | The developmental process that results in the deposition of coloring matter in an organism, tissue or cell. |
| intracellular transport | The directed movement of substances within a cell. |
| melanosome assembly | The aggregation, arrangement and bonding together of a set of components to form a melanosome, a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. |
| platelet dense granule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a platelet dense granule. A platelet dense granule is an electron-dense granule occurring in blood platelets that stores and secretes adenosine nucleotides and serotonin. They contain a highly condensed core consisting of serotonin, histamine, calcium, magnesium, ATP, ADP, pyrophosphate and membrane lysosomal proteins. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAFVPVIPES | YSHVLAEFES | LDPLLSALRL | DSSRLKCTSI | AVSRKWLALG | SSGGGLHLIQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KEGWKHRLFL | SHREGAISQV | ACCLHDDDYV | AVATSQGLVV | VWELNQERRG | KPEQMYVSSE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HKGRRVTALC | WDTAILRVFV | GDHAGKVSAI | KLNTSKQAKA | AAAFVMFPVQ | TITTVDSCVV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QLDYLDGRLL | ISSLTRSFLC | DTEREKFWKI | GNKERDGEYG | ACFFPGRCSG | GQQPLIYCAR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PGSRMWEVNF | DGEVISTHQF | KKLLSLPPLP | VITLRSEPQY | DHTAGSSQSL | SFPKLLHLSE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HCVLTWTERG | IYIFIPQNVQ | VLLWSEVKDI | QDVAVCRNEL | FCLHLNGKVS | HLSLISVERC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VERLLRRGLW | NLAARTCCLF | QNSVIASRAR | KTLTADKLEH | LKSQLDHGTY | NDLISQLEEL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ILKFEPLDSA | CSSRRSSISS | HESFSILDSG | IYRIISSRRG | SQSDEDSCSL | HSQTLSEDER |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FKEFTSQQEE | DLPDQCCGSH | GNEDNVSHAP | VMFETDKNET | FLPFGIPLPF | RSPSPLVSLQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AVKESVSSFV | RKTTEKIGTL | HTSPDLKVRP | ELRGDEQSCE | EDVSSDTCPK | EEDTEEEKEV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TSPPPEEDRF | QELKVATAEA | MTKLQDPLVL | FESESLRMVL | QEWLSHLEKT | FAMKDFSGVS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DTDNSSMKLN | QDVLLVNESK | KGILDEDNEK | EKRDSLGNEE | SVDKTACECV | RSPRESLDDL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FQICSPCAIA | SGLRNDLAEL | TTLCLELNVL | NSKIKSTSGH | VDHTLQQYSP | EILACQFLKK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| YFFLLNLKRA | KESIKLSYSN | SPSVWDTFIE | GLKEMASSNP | VYMEMEKGDL | PTRLKLLDDE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VPFDSPLLVV | YATRLYEKFG | ESALRSLIKF | FPSILPSDII | QLCHHHPAEF | LAYLDSLVKS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| RPEDQRSSFL | ESLLQPESLR | LDWLLLAVSL | DAPPSTSTMD | DEGYPRPHSH | LLSWGYSQLI |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LHLIKLPADF | ITKEKMTDIC | RSCGFWPGYL | ILCLELERRR | EAFTNIVYLN | DMSLMEGDNG |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| WIPETVEEWK | LLLHLIQSKS | TRPAPQESLN | GSLSDGPSPI | NVENVALLLA | KAMGPDRAWS |
| 1090 | 1100 | 1110 | 1120 | ||
| LLQECGLALE | LSEKFTRTCD | ILRIAEKRQR | ALIQSMLEKC | DRFLWSQQA |