Q8NEC5
PR
Gene name |
CATSPER1 |
Protein name |
Cation channel sperm-associated protein 1 |
Names |
CatSper1, hCatSper |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:117144 |
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 Q8NEC5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8NEC5-F1 | Predicted | AlphaFoldDB |
719 variants for Q8NEC5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs775284326 RCV000405398 CA6115019 |
19 | A>T | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6114998 RCV001104059 rs149821768 |
49 | G>S | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6114996 RCV001521485 RCV001104058 rs139889481 |
50 | V>M | Spermatogenic failure 7 Spermatogenic failure 7 (spgf7) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs146165781 RCV000896027 CA6114978 RCV002505292 |
77 | Q>H | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001104055 CA6114953 rs552868982 |
104 | A>T | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000336494 RCV001723890 rs1203998 CA6114934 VAR_033304 |
133 | G>S | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs193929390 RCV000004650 |
182 | H>missing | Spermatogenic failure 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000972292 rs113202862 RCV000318053 CA6114879 |
230 | R>C | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001107688 CA6114878 rs74794071 |
230 | R>H | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10639055 rs149769183 RCV000283909 |
232 | H>L | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV001690013 COSM1356129 rs79062509 CA6114869 RCV000376120 |
244 | G>R | Spermatogenic failure 7 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000323969 rs199940038 CA10639051 |
254 | G>V | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
RCV003160635 RCV001107028 CA6114865 rs372082637 |
258 | R>H | Spermatogenic failure 7 Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1565074167 RCV000680213 |
287 | Q>missing | Spermatogenic failure 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150803613 CA6114852 RCV000953641 RCV000363462 |
295 | R>W | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs370635615 RCV002555046 RCV001107027 CA6114847 |
297 | R>Q | Spermatogenic failure 7 Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs950065711 RCV001107026 |
315 | H>Q | Spermatogenic failure 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6114828 rs148686517 RCV000325151 |
316 | G>D | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs193929391 RCV000004651 |
317 | D>missing | Spermatogenic failure 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs773285320 RCV000272498 CA6114818 |
324 | Q>E | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6114812 rs142296641 RCV001104267 RCV002555019 |
332 | R>Q | Spermatogenic failure 7 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs754953178 CA10639050 RCV000365202 |
349 | F>V | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA6114799 RCV001104265 RCV000947357 rs1191715 |
353 | V>I | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6114796 COSM930615 RCV000312876 rs764233008 |
357 | R>W | Spermatogenic failure 7 endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10631252 RCV000395724 rs886048522 |
399 | G>R | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6114736 rs139761671 RCV001103974 |
424 | W>R | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs768194764 RCV000313967 CA6114714 |
462 | V>I | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA6114675 RCV000334936 rs202004405 |
482 | A>G | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000395750 CA10635324 rs886048521 |
482 | A>T | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001103973 CA6114672 rs142758999 |
486 | I>K | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6114661 RCV000406155 rs74484098 |
505 | S>L | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA224024372 RCV001107590 rs928590431 |
523 | V>M | Spermatogenic failure 7 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6114601 RCV001107588 rs200714710 |
558 | R>W | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6114567 rs760223439 RCV000287907 |
583 | I>S | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6114540 RCV001106922 rs145583697 |
602 | R>Q | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_033305 rs3814747 CA6114484 RCV001597060 RCV000327337 |
652 | V>I | Spermatogenic failure 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6114420 rs373771804 RCV000333186 |
703 | T>M | Male infertility [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs147304194 CA6114343 RCV001105810 RCV002558057 |
757 | R>C | Spermatogenic failure 7 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA224026638 rs952128035 |
2 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 6 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 8 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 8 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207828356 CA381348380 |
10 | A>V | No |
ClinGen gnomAD |
|
|
rs1361343340 CA381348377 |
11 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 14 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397680948 CA381348225 |
15 | D>G | No |
ClinGen TOPMed |
|
|
CA6115022 rs17853124 |
16 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA224026632 rs17853124 |
16 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1341486466 CA381348195 |
17 | N>D | No |
ClinGen gnomAD |
|
|
CA224026625 rs17853125 |
18 | N>I | No |
ClinGen Ensembl |
|
|
rs17853125 CA224026624 |
18 | N>T | No |
ClinGen Ensembl |
|
|
rs775284326 CA6115020 |
19 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6115018 rs765276179 |
20 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6115017 rs759530121 COSM3416136 |
22 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6115016 rs773490119 |
24 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6115015 rs772245808 |
24 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388905210 CA381347837 |
26 | H>R | No |
ClinGen gnomAD |
|
|
CA6115014 rs762143689 |
26 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs774459359 CA6115013 |
27 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs768855476 CA381347786 |
29 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749627716 CA6115011 |
29 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768855476 CA6115012 |
29 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224026596 rs959661620 |
30 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs144423333 CA6115010 |
31 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 36 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6115009 rs770351242 |
37 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs561672366 CA6115002 |
44 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1340171985 CA381347342 |
44 | E>K | No |
ClinGen gnomAD |
|
|
rs1417309167 CA381347238 |
46 | H>Y | No |
ClinGen TOPMed |
|
|
rs752495586 CA6115000 |
47 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 51 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170396636 CA381347011 |
52 | H>Q | No |
ClinGen gnomAD |
|
|
CA6114994 rs376605319 |
53 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381346985 rs1198298413 |
53 | Q>H | No |
ClinGen gnomAD |
|
|
CA6114993 rs768817052 |
54 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs763231443 CA6114992 |
54 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA381346959 rs763231443 |
54 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs576598349 CA381345854 |
55 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs576598349 CA6114991 |
55 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139020534 CA6114990 |
56 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381345782 rs1590689867 |
58 | H>P | No |
ClinGen Ensembl |
|
|
rs746179481 CA6114989 |
58 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1205172272 CA381345788 |
58 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA381345741 rs1590689859 |
59 | H>P | No |
ClinGen Ensembl |
|
|
CA381345728 rs1277969821 |
60 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1289615 CA6114988 rs781683558 |
61 | P>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA381345697 rs1275346444 |
61 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6114986 rs746517623 |
65 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 65 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6114985 rs777327151 COSM930629 |
66 | F>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs758055501 CA6114984 |
66 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778901724 CA6114983 |
67 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754843613 CA6114981 COSM1356130 |
68 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA381345532 rs1340453144 |
69 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1334083593 CA381345495 |
70 | A>D | No |
ClinGen gnomAD |
|
|
rs1437326541 CA381345476 |
71 | L>F | No |
ClinGen TOPMed |
|
|
CA381345479 rs1470710763 |
71 | L>W | No |
ClinGen gnomAD |
|
|
CA381345408 rs1414091764 |
74 | H>R | No |
ClinGen TOPMed |
|
|
CA224026525 rs908159033 |
75 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA224026522 rs200485759 |
77 | Q>* | No |
ClinGen Ensembl |
|
|
CA6114977 rs751655147 |
78 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1177616931 CA381345354 |
78 | S>T | No |
ClinGen gnomAD |
|
|
rs1235727199 CA381345323 |
79 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6114976 rs764201407 |
80 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA381345311 rs1181813357 |
80 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs201361688 CA6114975 |
82 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381345249 rs759895166 COSM930627 |
83 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs369350459 CA6114973 |
83 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771402680 CA6114970 COSM1704252 |
85 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6114971 rs534997340 |
85 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6114969 rs747550437 |
86 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA224026505 rs17856965 |
88 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6114967 rs17856965 |
88 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1198379761 CA381345144 |
89 | R>T | No |
ClinGen TOPMed |
|
|
CA381345120 rs1428187674 |
90 | A>V | No |
ClinGen gnomAD |
|
|
CA6114966 rs747613591 |
91 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA381345102 rs778740122 |
91 | H>L | No |
ClinGen ExAC TOPMed |
|
|
CA6114965 rs778740122 |
91 | H>R | No |
ClinGen ExAC TOPMed |
|
|
CA6114961 rs749153549 |
93 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 93 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779893090 CA6114960 |
94 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 95 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6114957 rs376343721 |
99 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1244121807 CA381344939 |
100 | P>S | No |
ClinGen gnomAD |
|
|
rs775504415 CA224026483 |
103 | G>D | No |
ClinGen Ensembl |
|
|
rs1248844679 CA381344876 |
103 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6114952 rs552868982 |
104 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA224026465 rs552868982 |
104 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM930626 rs137878849 CA6114950 |
105 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1565074732 CA381344807 |
106 | P>L | No |
ClinGen Ensembl |
|
|
CA381344784 rs1358717312 |
108 | H>Y | No |
ClinGen TOPMed |
|
|
rs372307795 CA224026461 |
109 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs150298490 COSM194323 CA6114949 |
109 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA381344767 rs372307795 |
109 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA224026458 rs755339794 |
110 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs575875557 CA381344710 |
111 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267603122 CA224026439 |
112 | G>D | No |
ClinGen Ensembl |
|
|
CA6114946 rs747666527 |
112 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6114945 rs747666527 |
112 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426878595 CA381344646 |
114 | D>G | No |
ClinGen gnomAD |
|
|
rs773984720 CA6114944 |
114 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs996300039 CA224026436 |
117 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6114943 rs768488856 |
118 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6114942 rs371291271 |
120 | Q>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs779760561 CA6114941 |
121 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1225234061 CA381344445 |
123 | G>D | No |
ClinGen gnomAD |
|
|
rs755957912 CA6114940 |
123 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs745606471 CA6114939 |
125 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1488391105 CA381344401 |
125 | R>K | No |
ClinGen TOPMed |
|
|
rs1308753958 CA381344363 |
126 | H>Q | No |
ClinGen gnomAD |
|
|
CA381344378 rs1201752726 |
126 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 127 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781190329 CA381344340 |
127 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6114937 rs367568797 |
128 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381344323 rs367568797 |
128 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 130 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381344279 rs1186944834 |
131 | Q>* | No |
ClinGen gnomAD |
|
|
rs17846029 CA224026409 CA224026408 |
132 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA224026410 rs868351296 |
132 | Y>F | No |
ClinGen Ensembl |
|
|
CA381344197 rs1203998 |
133 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381344191 rs1296400407 |
133 | G>D | No |
ClinGen gnomAD |
|
|
rs1047992415 CA224026397 |
139 | S>R | No |
ClinGen TOPMed |
|
|
CA381343844 rs1480973998 |
146 | G>V | No |
ClinGen gnomAD |
|
|
CA381343835 rs1590689334 |
147 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 147 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 147 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 148 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381343787 rs1250347572 |
148 | H>Y | No |
ClinGen gnomAD |
|
|
rs1349457587 CA381343757 |
149 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1349457587 CA381343760 |
149 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6114928 rs768082701 |
152 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 153 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768257889 CA6114925 |
154 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs774043595 CA6114926 |
154 | Y>C | No |
ClinGen ExAC |
|
|
rs144544092 CA6114927 |
154 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6114922 rs374324431 |
156 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771325410 CA6114921 |
157 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1349661311 CA381343451 |
159 | L>S | No |
ClinGen gnomAD |
|
|
rs1433870445 CA381343406 |
160 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA381343403 rs1216999928 |
161 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 165 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6114918 COSM77423 rs543744984 |
166 | V>M | ovary Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA224026354 rs927281248 |
168 | H>Y | No |
ClinGen Ensembl |
|
|
rs1298812806 CA381343101 |
169 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1298812806 CA381343098 |
169 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs142151431 CA6114916 |
170 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6114915 rs150987227 |
172 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381342974 rs1178857660 |
172 | A>P | No |
ClinGen gnomAD |
|
|
rs1178857660 CA381342972 |
172 | A>S | No |
ClinGen gnomAD |
|
|
CA381342987 rs1178857660 |
172 | A>T | No |
ClinGen gnomAD |
|
|
rs1363608134 CA381342958 |
174 | H>N | No |
ClinGen gnomAD |
|
|
rs1590689219 CA381342952 |
174 | H>P | No |
ClinGen Ensembl |
|
|
rs1251954543 CA381342915 |
175 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1251954543 CA381342916 |
175 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 176 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381342829 rs1590689201 |
178 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 178 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6114912 rs750866325 |
180 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 182 | H>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs989368480 CA224026273 |
183 | G>R | No |
ClinGen Ensembl |
|
|
rs762526161 CA6114907 |
184 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA224026262 rs982510891 |
185 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1435378026 CA381342499 |
186 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774801543 CA6114906 |
186 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1310610666 CA381342448 |
187 | Y>C | No |
ClinGen TOPMed |
|
|
CA381342404 rs1338886092 |
188 | S>G | No |
ClinGen gnomAD |
|
|
CA6114904 rs759109584 |
188 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1157187715 CA381342363 |
189 | E>G | No |
ClinGen gnomAD |
|
|
CA381342254 rs1377082327 |
192 | H>R | No |
ClinGen TOPMed |
|
|
rs1455729137 CA381342266 |
192 | H>Y | No |
ClinGen gnomAD |
|
|
CA224026251 rs1032695086 |
194 | S>G | No |
ClinGen TOPMed |
|
|
CA6114902 rs770692912 |
194 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA381342141 rs770692912 |
194 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs375411792 CA6114901 |
194 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6114899 rs771931578 |
195 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183724777 CA381342082 |
196 | A>S | No |
ClinGen gnomAD |
|
|
rs1288803513 CA381342043 |
197 | S>P | No |
ClinGen TOPMed |
|
|
CA381341992 rs1590689057 |
198 | H>P | No |
ClinGen Ensembl |
|
|
CA381342018 rs1446057186 |
198 | H>Y | No |
ClinGen gnomAD |
|
|
CA6114898 rs749399853 |
199 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6114897 rs199771570 |
199 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381341939 rs1565074425 |
200 | S>N | No |
ClinGen Ensembl |
|
|
CA381341898 rs750588043 CA6114895 |
201 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361565994 CA381341817 |
203 | Q>* | No |
ClinGen gnomAD |
|
|
rs372650214 CA6114893 |
204 | H>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6114892 rs369397065 |
205 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369397065 CA381341701 |
205 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381341648 rs1236786826 |
206 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs764707877 CA6114891 |
206 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1458544254 CA381341555 |
207 | S>F | No |
ClinGen TOPMed |
|
|
CA224026231 rs1036977930 |
207 | S>P | No |
ClinGen Ensembl |
|
|
rs1384211297 CA381341493 |
209 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 211 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381341321 rs1590688974 |
212 | V>A | No |
ClinGen Ensembl |
|
|
rs1004422544 CA224026228 |
212 | V>L | No |
ClinGen Ensembl |
|
|
rs758815442 CA6114890 |
214 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA6114889 rs752322387 |
214 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758815442 CA381341233 |
214 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6114888 rs201253357 |
215 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6114887 rs752645349 |
215 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400178489 CA381341173 |
216 | G>V | No |
ClinGen TOPMed |
|
|
CA224026201 rs1018725423 |
219 | H>Q | No |
ClinGen TOPMed |
|
|
rs1306400970 CA381341062 |
220 | H>R | No |
ClinGen TOPMed |
|
|
CA381341034 rs1590688918 |
221 | H>P | No |
ClinGen Ensembl |
|
|
CA224026199 rs1044787836 |
222 | Q>H | No |
ClinGen TOPMed |
|
|
rs776290437 CA6114885 |
224 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6114884 rs765976986 |
225 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs760469778 CA6114883 |
226 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381340874 rs1565074355 |
226 | H>R | No |
ClinGen Ensembl |
|
|
CA381340879 rs760469778 |
226 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6114881 rs202130764 |
228 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6114880 rs748003564 |
229 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748003564 CA381340797 |
229 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6114877 rs745919577 |
231 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 233 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381340618 rs1403546030 |
234 | A>S | No |
ClinGen gnomAD |
|
|
rs781566787 CA6114876 |
236 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs192856378 CA6114875 |
237 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381340493 rs1216623680 |
237 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 240 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6114872 rs200806107 |
242 | H>N | Variant assessed as Somatic; 0.0001875 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs79062509 CA381340231 |
244 | G>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754481236 CA6114868 |
246 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs753279526 CA6114867 |
249 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 251 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867754655 CA224026165 |
252 | S>F | No |
ClinGen Ensembl |
|
|
CA381339956 rs199940038 |
254 | G>E | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1220263404 CA381339959 |
254 | G>W | No |
ClinGen TOPMed |
|
|
rs1317236121 CA381339895 |
257 | Q>K | No |
ClinGen TOPMed |
|
|
rs1216782512 CA381339877 |
257 | Q>R | No |
ClinGen TOPMed |
|
|
rs375184637 CA6114866 |
258 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381339738 rs1199917114 |
261 | S>C | No |
ClinGen TOPMed |
|
|
CA224026160 rs926128299 |
264 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs139056553 CA6114864 |
265 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138388451 CA381339588 |
266 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224026153 rs368688295 |
266 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6114862 rs138388451 |
266 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381339517 rs1330304355 |
268 | H>Q | No |
ClinGen gnomAD |
|
|
CA381339502 rs1378689421 |
269 | Q>P | No |
ClinGen TOPMed |
|
|
rs768570983 CA6114860 |
270 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA381339394 rs1173820813 |
272 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1173820813 CA381339390 |
272 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA381339364 rs1590688643 |
273 | H>P | No |
ClinGen Ensembl |
|
|
rs1470811660 CA381339353 |
273 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA224026151 rs965085427 |
273 | H>Y | No |
ClinGen Ensembl |
|
|
CA6114858 rs776834828 |
274 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6114857 rs771342326 |
275 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576829972 CA224026149 |
275 | S>R | No |
ClinGen Ensembl |
|
|
CA381339301 rs771342326 |
275 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 275 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224026144 rs974968643 |
278 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs974968643 CA381339218 |
278 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 279 | H>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201195978 CA6114856 |
279 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA224026141 rs201195978 |
279 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs534823391 CA6114855 |
280 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381339123 rs1458270903 |
281 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1279743849 CA381339030 |
285 | H>R | No |
ClinGen gnomAD |
|
|
CA6114853 rs748509049 |
285 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590688527 CA381338933 |
288 | H>P | No |
ClinGen Ensembl |
|
|
rs1223644775 CA381338899 |
289 | H>R | No |
ClinGen gnomAD |
|
|
rs1590688514 CA381338882 |
290 | Y>S | No |
ClinGen Ensembl |
|
|
CA381338856 rs1590688507 |
291 | H>P | No |
ClinGen Ensembl |
|
|
CA224026126 rs1004134821 |
292 | Q>P | No |
ClinGen Ensembl |
|
|
CA381338813 rs1590688501 |
293 | T>P | No |
ClinGen Ensembl |
|
|
rs141659121 CA6114851 |
295 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374112491 CA6114849 |
297 | R>* | Variant assessed as Somatic; 4.968e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6114848 rs370635615 |
297 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1320797808 CA381338689 |
299 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1359424751 CA381338646 |
300 | H>R | No |
ClinGen gnomAD |
|
|
rs767156124 CA6114846 |
300 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6114845 rs761517063 |
301 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381338632 rs761517063 |
301 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398799170 CA381338602 |
302 | H>Y | No |
ClinGen gnomAD |
|
|
rs1234361135 CA381338595 |
303 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1565074110 CA381338540 |
305 | H>D | No |
ClinGen Ensembl |
|
|
CA381338521 rs1357908290 |
306 | H>Y | No |
ClinGen gnomAD |
|
|
CA6114841 rs143520345 |
307 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141376441 CA6114837 |
308 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370786090 CA6114839 |
308 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370786090 CA6114838 |
308 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs141376441 CA6114836 |
308 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6114832 rs368165391 |
309 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769111082 CA6114831 |
310 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA381338417 rs1349580975 |
311 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1379301807 CA381338409 |
312 | S>G | No |
ClinGen TOPMed |
|
|
CA381338372 rs1286909936 |
312 | S>R | No |
ClinGen gnomAD |
|
|
rs113730172 CA6114829 |
314 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs906677592 CA224026092 |
315 | H>P | No |
ClinGen TOPMed |
|
|
CA381338269 rs1379432582 |
317 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6114825 rs756918272 |
318 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs763036148 CA6114822 |
319 | V>G | No |
ClinGen ExAC |
|
|
CA6114823 rs763914476 |
319 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752707753 CA6114821 |
321 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 322 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760844774 CA6114819 |
323 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs762092653 CA6114815 |
327 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA381337938 rs1178661276 |
327 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 328 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375751217 CA6114814 |
330 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1217862595 CA381337700 COSM1199695 |
332 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA381337550 rs1457218014 |
335 | I>T | No |
ClinGen TOPMed |
|
|
CA381337466 rs1323857488 |
336 | H>P | No |
ClinGen TOPMed |
|
|
rs879542515 CA224026040 |
337 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs745424701 CA6114809 |
337 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381337375 rs1212413007 |
338 | A>T | No |
ClinGen gnomAD |
|
|
CA6114807 rs756897029 |
340 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381337242 rs1404167666 |
341 | P>S | No |
ClinGen gnomAD |
|
|
rs976546319 CA224026029 |
342 | A>T | No |
ClinGen Ensembl |
|
|
rs377753488 CA6114806 |
344 | S>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6114805 rs777244571 |
344 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6114804 rs758302064 COSM930616 |
345 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs752478488 CA6114803 |
345 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765282436 CA6114802 |
348 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs754953178 CA6114801 |
349 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs750535061 CA6114800 |
349 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA224026018 rs200338767 |
350 | P>L | No |
ClinGen Ensembl |
|
|
CA381336991 rs1480324311 |
351 | Y>H | No |
ClinGen gnomAD |
|
|
rs1479362481 CA381336927 |
353 | V>A | No |
ClinGen TOPMed |
|
|
CA381336930 rs1191715 |
353 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6114797 rs774662494 |
354 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 356 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381336805 rs199732759 |
357 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6114795 COSM930614 rs199732759 |
357 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 358 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381336777 rs1258319159 |
358 | G>A | No |
ClinGen gnomAD |
|
|
CA6114794 rs770349297 |
359 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770349297 CA6114793 |
359 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285062374 CA381336745 |
360 | A>S | No |
ClinGen gnomAD |
|
|
rs1158211324 CA381336736 |
361 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 362 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381336700 rs1387257715 |
362 | S>R | No |
ClinGen gnomAD |
|
|
CA6114791 rs187898935 |
363 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200189507 CA381336666 |
365 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6114789 rs183128344 |
365 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200189507 CA6114790 |
365 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6114787 rs758070867 |
366 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA381336581 rs1469564028 |
368 | S>R | No |
ClinGen gnomAD |
|
|
CA381336624 rs1565073885 |
368 | S>R | No |
ClinGen Ensembl |
|
|
rs1427607192 CA381336549 |
369 | T>K | No |
ClinGen gnomAD |
|
|
CA6114785 rs778848109 |
370 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6114782 rs753793129 |
371 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224025982 COSM194321 rs1033780625 |
371 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs766186144 CA6114781 |
372 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs757360456 CA6114780 |
373 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs751535876 CA6114779 |
373 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764357789 CA6114778 |
375 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA224025971 rs1002429167 |
376 | Q>P | No |
ClinGen TOPMed |
|
|
rs1316259503 CA381336321 |
377 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA381336341 rs1233792070 |
377 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 377 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 378 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763154029 CA6114777 |
378 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1222082922 CA381336249 |
380 | K>N | No |
ClinGen gnomAD |
|
|
CA381336241 rs1379234405 |
381 | V>I | No |
ClinGen gnomAD |
|
|
CA6114776 rs775868375 |
383 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224025965 rs759767672 |
384 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA381336151 rs1590687881 |
384 | Q>H | No |
ClinGen Ensembl |
|
|
CA6114774 rs759767672 |
384 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA381336156 COSM4165912 rs1482702363 |
384 | Q>L | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs151273727 CA224025962 |
385 | D>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA381336125 rs151273727 |
385 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1466881673 CA381336148 |
385 | D>N | No |
ClinGen gnomAD |
|
|
CA224025957 rs932796070 |
387 | S>F | No |
ClinGen Ensembl |
|
|
TCGA novel CA381335924 rs1264990111 |
390 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA381335812 rs1157584569 |
393 | D>N | No |
ClinGen gnomAD |
|
|
rs746546934 CA6114771 |
394 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs771277974 CA224025950 CA6114772 |
394 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772839077 CA6114770 |
395 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1459688351 CA381335766 |
395 | G>S | No |
ClinGen gnomAD |
|
|
rs1200748998 CA381335696 |
397 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 398 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381335615 rs1565073779 |
399 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 401 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6114766 rs778903377 |
404 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140016343 CA224025939 |
404 | R>H | No |
ClinGen ESP gnomAD |
|
|
rs1310068007 CA381335312 |
406 | T>S | No |
ClinGen gnomAD |
|
|
rs1030798955 CA224025159 |
407 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 410 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224025148 rs372720906 |
411 | R>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA381333643 rs372720906 |
411 | R>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA224025151 rs372720906 |
411 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1341603715 CA381333625 |
412 | T>N | No |
ClinGen gnomAD |
|
|
CA6114747 rs768134110 |
413 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1638926 rs144478996 CA6114745 |
413 | R>H | stomach [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs144478996 CA6114746 |
413 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381333584 rs1163388510 |
414 | K>N | No |
ClinGen gnomAD |
|
|
CA6114744 rs769806702 |
414 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA381333550 rs745779330 |
415 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781055586 CA6114742 |
415 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6114743 rs745779330 |
415 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478034890 CA381333485 |
417 | H>Q | No |
ClinGen gnomAD |
|
|
rs758500591 CA6114740 |
418 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6114738 rs752709422 |
420 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754299078 CA6114735 |
424 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA381333192 rs1220780801 |
426 | W>* | No |
ClinGen gnomAD |
|
|
CA381333178 rs1319059902 |
426 | W>C | No |
ClinGen gnomAD |
|
|
rs201129589 CA6114734 |
426 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA6114733 rs78693804 |
427 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA381333087 rs1399934791 |
431 | F>L | No |
ClinGen TOPMed |
|
|
CA6114731 rs149401985 |
431 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761420266 CA6114730 |
432 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA224025104 rs1008820887 |
434 | Q>* | No |
ClinGen Ensembl |
|
|
rs768421949 CA381332910 |
437 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768421949 COSM1509675 CA6114728 |
437 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA381332937 rs1319000804 |
437 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6114726 rs775400715 |
439 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381332748 rs1232936257 |
441 | R>Q | No |
ClinGen TOPMed |
|
|
rs769495420 CA6114725 |
441 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200011609 CA224025077 |
442 | N>K | No |
ClinGen Ensembl |
|
|
rs745620084 CA6114724 |
445 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745620084 CA381332658 |
445 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 450 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6114721 rs748289034 |
454 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA6114719 rs755268389 |
456 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6114720 rs778859431 |
456 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778859431 CA224025043 |
456 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458412608 CA381332268 |
457 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766343313 CA6114718 |
458 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA224025034 rs201877102 |
459 | L>F | No |
ClinGen Ensembl |
|
|
CA6114717 rs756579721 |
460 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs941559425 CA224025031 |
460 | N>T | No |
ClinGen TOPMed |
|
|
CA381332116 rs1590684922 |
461 | T>P | No |
ClinGen Ensembl |
|
|
rs768194764 CA6114715 |
462 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1254439972 CA381332069 |
463 | M>I | No |
ClinGen TOPMed |
|
|
CA381331996 rs1275979167 |
465 | V>G | No |
ClinGen gnomAD |
|
|
CA6114713 rs757834114 |
466 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs551730506 COSM1199697 CA224025022 |
466 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes |
|
CA6114711 rs763486506 |
469 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs762472858 CA6114710 |
470 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6114708 rs150740566 |
471 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759341698 CA6114707 |
471 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6114705 rs746921784 |
475 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6114704 rs746921784 |
475 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6114706 rs776399868 |
475 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA6114679 rs775633705 |
477 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA381331550 rs1440550730 |
477 | E>K | No |
ClinGen gnomAD |
|
|
rs778692528 CA224024585 |
478 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6114677 rs746065311 |
481 | M>V | No |
ClinGen ExAC |
|
|
CA6114676 rs202004405 |
482 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747328548 CA6114674 |
483 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1565071885 CA381330034 |
483 | L>S | No |
ClinGen Ensembl |
|
|
rs1477053125 CA381329999 |
484 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 484 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs992124316 CA224024570 |
484 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1195071142 CA381329965 |
486 | I>V | No |
ClinGen gnomAD |
|
|
CA600230923 rs1427270858 |
491 | Y>* | No |
ClinGen gnomAD |
|
|
rs754679017 CA6114670 |
491 | Y>* | No |
ClinGen ExAC |
|
|
CA381329703 rs1565071847 |
492 | V>M | No |
ClinGen Ensembl |
|
|
rs376008588 CA6114667 |
494 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 498 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143644621 CA6114663 |
501 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs535618233 CA6114662 |
502 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1404235987 CA381329359 |
503 | G>D | No |
ClinGen gnomAD |
|
|
rs941710321 CA224024529 |
504 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 504 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381329326 rs1417340284 |
504 | L>P | No |
ClinGen TOPMed |
|
|
rs941710321 CA381329341 |
504 | L>V | No |
ClinGen TOPMed |
|
|
rs74484098 CA381329309 |
505 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
TCGA novel CA6114660 rs770016571 |
507 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
| TCGA novel | 510 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381328483 rs1359252063 |
518 | I>V | No |
ClinGen TOPMed |
|
|
rs760622742 CA6114617 |
519 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1055684410 CA224024383 |
519 | M>V | No |
ClinGen gnomAD |
|
|
rs1421729194 CA381328404 |
520 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1257980740 CA381328391 |
521 | M>T | No |
ClinGen gnomAD |
|
|
CA381328301 rs928590431 |
523 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6114616 rs773515324 |
524 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 525 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381328188 rs1220933279 |
527 | L>S | No |
ClinGen TOPMed |
|
|
rs60581004 CA224024366 |
528 | L>V | No |
ClinGen Ensembl |
|
|
CA381328137 rs1355990200 |
529 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 530 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381328121 rs1286888772 |
530 | Q>K | No |
ClinGen gnomAD |
|
|
rs767571845 CA6114615 |
532 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA381328009 rs1232354426 |
533 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs762182903 CA381327918 |
535 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs762182903 CA6114613 |
535 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6114612 rs774688128 |
536 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1311683374 CA381327880 |
536 | I>V | No |
ClinGen TOPMed |
|
|
rs1201807325 CA381327768 |
539 | Q>H | No |
ClinGen TOPMed |
|
|
rs1401256771 CA381327751 |
540 | S>N | No |
ClinGen gnomAD |
|
|
rs1360570185 CA381327736 |
541 | L>F | No |
ClinGen gnomAD |
|
|
CA6114611 rs769189808 |
542 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs775808039 CA6114609 |
543 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6114610 rs749769569 |
543 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1260887361 CA381327594 |
547 | V>I | No |
ClinGen gnomAD |
|
|
rs769374210 CA6114608 |
548 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1565071523 CA381327519 |
549 | K>E | No |
ClinGen Ensembl |
|
|
rs746865417 CA6114604 |
552 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756955557 CA6114605 |
552 | R>W | Variant assessed as Somatic; 4.738e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1425037921 CA381327376 |
553 | A>V | No |
ClinGen TOPMed |
|
|
rs777682212 CA6114603 |
557 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6114600 rs765046118 |
558 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA381327256 rs765046118 |
558 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6114598 rs751728743 |
561 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751728743 CA6114597 |
561 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6114599 rs756226578 |
561 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA381327162 rs1384570279 |
562 | R>S | No |
ClinGen gnomAD |
|
| rs762021038 | 563 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381327144 rs1392357631 |
563 | L>R | No |
ClinGen gnomAD |
|
|
CA6114595 rs751966872 |
564 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6114578 rs781223724 |
565 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs757275539 CA381326972 |
567 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA6114577 rs757275539 |
567 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA381326903 rs570606904 |
568 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763320317 CA6114574 |
569 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764230958 CA6114575 |
569 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242101789 CA381326869 |
570 | Q>L | No |
ClinGen TOPMed |
|
|
CA381326786 rs1442571498 |
574 | G>E | No |
ClinGen TOPMed |
|
|
rs1590682692 CA381326776 |
575 | T>P | No |
ClinGen Ensembl |
|
|
CA6114572 rs202136090 |
576 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381326731 rs1402908183 |
577 | G>D | No |
ClinGen gnomAD |
|
|
CA6114571 rs765838269 |
577 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA381326670 rs1407960499 |
580 | L>F | No |
ClinGen gnomAD |
|
|
rs759927634 CA6114570 |
581 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759927634 CA381326651 |
581 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770588188 CA6114568 |
583 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368518822 CA224024186 |
584 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs868350071 CA224024183 |
586 | I>T | No |
ClinGen Ensembl |
|
|
CA6114565 rs771796187 |
586 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 587 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1404116187 CA381326452 |
592 | T>I | No |
ClinGen TOPMed |
|
|
CA6114564 rs199950402 |
592 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA381326426 rs1215200412 |
593 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1350907050 CA381326419 |
594 | L>F | No |
ClinGen gnomAD |
|
|
rs772839187 CA6114548 |
595 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs376519887 CA224024109 |
599 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143627075 CA381326283 |
599 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143627075 CA6114546 |
599 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376519887 CA6114545 |
599 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1431593593 CA381326262 |
601 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6114541 rs145583697 |
602 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6114542 rs775414684 |
602 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA6114539 rs564149936 |
603 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs564149936 CA6114538 |
603 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 603 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748342699 CA6114537 |
604 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs756819099 CA381326237 |
604 | L>V | No |
ClinGen TOPMed |
|
|
rs1426416348 CA381326211 |
606 | R>C | No |
ClinGen gnomAD |
|
|
CA6114536 rs773852447 |
606 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755303894 CA6114535 |
608 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs754197714 CA6114534 |
609 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6114533 rs200131049 |
612 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756687982 CA6114532 |
612 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6114529 rs373303418 |
616 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381326039 rs373303418 |
616 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766917485 CA6114530 |
616 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1215199264 CA381326009 |
618 | T>A | No |
ClinGen gnomAD |
|
|
rs773876830 CA381325990 |
619 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6114528 rs773876830 |
619 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA381325938 rs1395576387 |
622 | T>A | No |
ClinGen gnomAD |
|
|
rs1328323571 CA381325935 |
622 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA381325884 rs1356733190 |
625 | T>N | No |
ClinGen gnomAD |
|
|
rs775260777 CA6114525 |
628 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs769762719 CA6114524 |
628 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374829398 CA6114522 |
630 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1054692812 CA224024052 |
632 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1054692812 CA381325764 |
632 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6114521 rs772077063 |
633 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA224024049 rs1010096346 |
634 | L>V | No |
ClinGen Ensembl |
|
|
CA381325674 rs1402469999 |
637 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1458949914 CA381325615 |
640 | R>C | No |
ClinGen gnomAD |
|
|
COSM305617 CA6114519 rs369785055 |
640 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6114518 rs768910453 |
641 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1276581876 CA381325568 |
642 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| rs200020058 | 643 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759341517 CA6114489 |
643 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA381325469 rs759341517 |
643 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6114515 rs756736807 |
643 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs766294676 CA6114487 |
644 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA224023938 rs891707009 |
645 | W>L | No |
ClinGen TOPMed |
|
| TCGA novel | 647 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6114486 rs760633728 |
649 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1565070647 CA381325318 |
650 | I>V | No |
ClinGen Ensembl |
|
|
CA6114482 rs371363491 |
655 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771390412 CA6114478 |
657 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6114479 rs777022494 |
657 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs746297400 CA6114480 |
657 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1191054016 CA381325127 |
658 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA600230811 rs1430412550 |
659 | Y>* | No |
ClinGen gnomAD |
|
|
rs778101113 CA6114476 |
662 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs200777689 CA224023893 |
662 | F>L | No |
ClinGen 1000Genomes |
|
|
CA381325012 rs1275441390 |
663 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA224023880 rs1020053885 |
664 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA224023817 rs937232407 |
665 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6114463 rs759781400 |
666 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs776667661 CA6114462 |
667 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 667 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868337312 CA224023812 |
671 | V>M | No |
ClinGen Ensembl |
|
|
CA224023810 rs12720434 |
672 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381324742 rs12720434 |
672 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 673 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM259940 rs1401420679 CA381324598 |
676 | T>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6114461 COSM1199696 rs376917892 |
676 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773724360 CA6114459 |
677 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs988402907 CA224023793 |
680 | K>E | No |
ClinGen gnomAD |
|
|
CA381324441 rs1184504984 |
680 | K>N | No |
ClinGen gnomAD |
|
|
rs955708654 CA224023791 |
681 | G>A | No |
ClinGen Ensembl |
|
|
CA381324375 rs1256084489 |
684 | K>R | No |
ClinGen gnomAD |
|
|
CA6114454 rs754677282 |
685 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6114455 rs778364409 |
685 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs778364409 CA381324362 |
685 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM930605 rs754677282 CA381324351 |
685 | A>V | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA381324326 rs1238963974 |
686 | K>N | No |
ClinGen gnomAD |
|
|
rs866087811 CA224023782 |
687 | Q>K | No |
ClinGen Ensembl |
|
|
CA6114453 rs748995973 |
687 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1437843772 CA381324169 |
689 | R>K | No |
ClinGen TOPMed |
|
|
CA381324154 rs1474157404 |
690 | A>T | No |
ClinGen gnomAD |
|
|
rs369285455 CA6114429 |
691 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6114430 rs369285455 COSM378973 |
691 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs755098505 CA224023734 |
692 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6114427 rs369647718 |
692 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755098505 CA6114428 |
692 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6114426 rs766690264 |
694 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 695 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335329633 CA381324046 |
695 | E>Q | No |
ClinGen gnomAD |
|
|
rs376237533 CA6114422 |
701 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1044536960 CA224023709 |
702 | L>M | No |
ClinGen TOPMed |
|
|
CA6114421 rs762127930 |
702 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336559852 CA381323905 |
704 | E>K | No |
ClinGen TOPMed |
|
|
rs1381016600 CA381323894 |
704 | E>V | No |
ClinGen TOPMed |
|
|
CA6114418 rs762587297 |
708 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776013701 CA6114399 |
710 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1590679779 CA381322151 |
712 | E>D | No |
ClinGen Ensembl |
|
|
rs1329159781 CA381322177 |
712 | E>K | No |
ClinGen TOPMed |
|
|
rs1249552976 CA381322127 |
714 | A>T | No |
ClinGen gnomAD |
|
|
COSM930603 rs764683817 CA6114398 |
714 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA381322063 rs1309679651 |
716 | E>K | No |
ClinGen TOPMed |
|
|
rs776435635 CA6114396 |
717 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA381322013 rs1205263576 |
718 | T>A | No |
ClinGen gnomAD |
|
|
CA6114395 rs371509364 |
718 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6114394 rs746867593 |
719 | M>L | No |
ClinGen ExAC |
|
| TCGA novel | 719 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3376015 rs980971607 CA224023266 |
722 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6114393 rs772852592 |
722 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306647774 CA381321898 |
724 | I>T | No |
ClinGen gnomAD |
|
|
rs369120181 CA381321884 |
725 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6114390 rs778872520 |
725 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369120181 CA6114391 |
725 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369120181 CA381321887 |
725 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6114388 rs151325897 |
728 | F>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6114387 rs151325897 |
728 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_033306 CA224023252 rs34958219 |
730 | T>P | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1237942260 CA381321771 |
731 | M>V | No |
ClinGen TOPMed |
|
|
rs1434880429 CA381321747 |
732 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1333268012 CA381321027 |
735 | Q>P | No |
ClinGen gnomAD |
|
|
CA6114357 rs200533904 |
738 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 741 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1383552306 CA381320914 |
741 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 747 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381320738 rs1459697519 |
748 | S>G | No |
ClinGen gnomAD |
|
|
rs1396543376 CA381320725 |
748 | S>I | No |
ClinGen gnomAD |
|
|
CA6114351 rs774195313 |
749 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6114352 rs370395617 |
749 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 750 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs891238251 CA224020620 |
751 | Q>* | No |
ClinGen Ensembl |
|
|
CA6114349 rs762896072 |
752 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148760734 CA6114347 |
753 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148760734 CA6114348 |
753 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148760734 CA6114346 |
753 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381320537 rs1203545057 |
755 | K>Q | No |
ClinGen TOPMed |
|
|
rs777914787 CA6114344 |
756 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs748502205 CA6114342 |
757 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1249040743 CA381320379 |
760 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs200011892 CA6114338 |
762 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6114339 rs142726200 |
762 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381320347 rs142726200 |
762 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749940054 CA6114336 |
764 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs761500535 CA6114334 |
765 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 765 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6114335 rs761500535 |
765 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6114333 rs751160595 |
766 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs895306245 CA224020603 |
768 | D>V | No |
ClinGen Ensembl |
|
|
rs762666546 CA6114331 |
769 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA224020599 rs1030657463 |
770 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6114330 rs775418332 |
771 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204227687 CA381320080 |
773 | A>D | No |
ClinGen gnomAD |
|
|
rs1281132496 CA381319947 |
779 | R>G | No |
ClinGen TOPMed gnomAD |
1 associated diseases with Q8NEC5
[MIM: 612997]: Spermatogenic failure 7 (SPGF7)
An infertility disorder characterized by non-motile sperm or sperm motility below the normal threshold, low sperm count, increased abnormally structured spermatozoa, and reduced semen volume. {ECO:0000269|PubMed:19344877}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An infertility disorder characterized by non-motile sperm or sperm motility below the normal threshold, low sperm count, increased abnormally structured spermatozoa, and reduced semen volume. {ECO:0000269|PubMed:19344877}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q8NEC5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ion transport domain | 448 - 676 | IPR005821 |
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| CatSper complex | A sperm-specific voltage-gated calcium channel that controls the intracellular calcium ion concentration and, thereby, the swimming behavior of sperm. Consists of a heteromeric tetramer surrounding a calcium ion- selective pore. May also contain additional auxiliary subunits. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| sperm principal piece | The segment of the sperm flagellum where the mitochondrial sheath ends, and the outer dense fibers (ODFs) associated with outer axonemal doublets 3 and 8 are replaced by the 2 longitudinal columns of the fibrous sheath (FS) which run the length of the principal piece and are stabilized by circumferential ribs. The principal piece makes up ~2/3 of the length of the sperm flagellum and is defined by the presence of the FS and of only 7 (rather than 9) ODFs which taper and then terminate near the distal end of the principal piece. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium activated cation channel activity | Enables the calcium concentration-regulatable energy-independent passage of cations across a lipid bilayer down a concentration gradient. |
| voltage-gated calcium channel activity | Enables the transmembrane transfer of a calcium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium ion transport | The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| flagellated sperm motility | The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. |
| regulation of cilium beat frequency involved in ciliary motility | Any process that modulates the frequency of cilium beating involved in ciliary motility. |
| regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDQNSVPEKA | QNEADTNNAD | RFFRSHSSPP | HHRPGHSRAL | HHYELHHHGV | PHQRGESHHP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PEFQDFHDQA | LSSHVHQSHH | HSEARNHGRA | HGPTGFGLAP | SQGAVPSHRS | YGEDYHDELQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RDGRRHHDGS | QYGGFHQQSD | SHYHRGSHHG | RPQYLGENLS | HYSSGVPHHG | EASHHGGSYL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PHGPNPYSES | FHHSEASHLS | GLQHDESQHH | QVPHRGWPHH | HQVHHHGRSR | HHEAHQHGKS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PHHGETISPH | SSVGSYQRGI | SDYHSEYHQG | DHHPSEYHHG | DHPHHTQHHY | HQTHRHRDYH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QHQDHHGAYH | SSYLHGDYVQ | STSQLSIPHT | SRSLIHDAPG | PAASRTGVFP | YHVAHPRGSA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HSMTRSSSTI | RSRVTQMSKK | VHTQDISTKH | SEDWGKEEGQ | FQKRKTGRLQ | RTRKKGHSTN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LFQWLWEKLT | FLIQGFREMI | RNLTQSLAFE | TFIFFVVCLN | TVMLVAQTFA | EVEIRGEWYF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MALDSIFFCI | YVVEALLKII | ALGLSYFFDF | WNNLDFFIMA | MAVLDFLLMQ | THSFAIYHQS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LFRILKVFKS | LRALRAIRVL | RRLSFLTSVQ | EVTGTLGQSL | PSIAAILILM | FTCLFLFSAV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LRALFRKSDP | KRFQNIFTTI | FTLFTLLTLD | DWSLIYMDSR | AQGAWYIIPI | LVIYIIIQYF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IFLNLVITVL | VDSFQTALFK | GLEKAKQERA | ARIQEKLLED | SLTELRAAEP | KEVASEGTML |
| 730 | 740 | 750 | 760 | 770 | |
| KRLIEKKFGT | MTEKQQELLF | HYLQLVASVE | QEQQKFRSQA | AVIDEIVDTT | FEAGEEDFRN |