Q8TCS8
PR
Gene name |
PNPT1 |
Protein name |
Polyribonucleotide nucleotidyltransferase 1, mitochondrial |
Names |
3'-5' RNA exonuclease OLD35, PNPase old-35, Polynucleotide phosphorylase 1, PNPase 1, Polynucleotide phosphorylase-like protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:87178 |
EC number |
2.7.7.8: Nucleotidyltransferases |
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
3 structures for Q8TCS8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3U1K | X-ray | 213 A | A/B/C/D | 46-669 | PDB |
| 5ZF6 | X-ray | 280 A | A/B | 46-669 | PDB |
| AF-Q8TCS8-F1 | Predicted | AlphaFoldDB |
676 variants for Q8TCS8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002069317 RCV001249183 rs540498342 CA1668628 |
46 | A>G | Autosomal recessive nonsyndromic hearing loss 70 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000714515 CA346943132 rs1559114055 |
70 | S>P | Combined oxidative phosphorylation defect type 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs750110394 RCV001336834 |
92 | P>A | Combined oxidative phosphorylation defect type 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000127514 RCV000676646 rs782572 RCV001789182 RCV001789181 VAR_027787 CA292823 |
121 | I>V | Combined oxidative phosphorylation defect type 13 Autosomal recessive nonsyndromic hearing loss 70 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001585665 RCV002534523 CA1668485 rs746356243 RCV000714514 |
136 | R>H | Combined oxidative phosphorylation defect type 13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs76401964 RCV000907438 RCV001336836 CA1668484 |
138 | I>V | Combined oxidative phosphorylation defect type 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000787359 rs1572834021 |
141 | L>missing | Neurodevelopmental disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000199028 CA323570 RCV003152597 rs151166046 RCV001332755 |
165 | P>S | Combined oxidative phosphorylation defect type 13 Spinocerebellar ataxia type 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1365308037 RCV000986759 CA346938815 |
176 | A>T | Combined oxidative phosphorylation defect type 13 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA323779 rs34928857 RCV000765691 RCV000199246 VAR_050610 RCV001336837 |
230 | E>Q | Combined oxidative phosphorylation defect type 13 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10586244 RCV000239625 rs778100619 |
254 | Q>K | Combined oxidative phosphorylation defect type 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001336838 rs1696930196 |
307 | V>missing | Autosomal recessive nonsyndromic hearing loss 70 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs377657203 RCV001865768 RCV001332752 CA1668219 |
374 | V>A | Combined oxidative phosphorylation defect type 13 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs397514598 CA130566 RCV000033022 VAR_069248 |
387 | Q>R | Combined oxidative phosphorylation defect type 13 COXPD13; the mutation alters multimerization of the protein [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA47655287 RCV001371700 RCV000663406 rs200088200 |
454 | A>G | Combined oxidative phosphorylation defect type 13 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001266514 rs2627765 |
464 | R>* | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001527689 RCV001090966 rs1696380450 |
467 | P>S | Combined oxidative phosphorylation defect type 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_069249 rs397514599 RCV000033023 CA130567 |
475 | E>G | Autosomal recessive nonsyndromic hearing loss 70 DFNB70; results in a hypofunctional protein leading to disturbed enzyme trimerization and impaired mitochondrial RNA import [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002273982 RCV000195745 rs767310806 CA320114 |
485 | M>V | Combined oxidative phosphorylation defect type 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000714517 CA346926815 rs1559094461 |
499 | G>R | Combined oxidative phosphorylation defect type 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000680151 RCV001089488 RCV003152598 RCV003147399 RCV001266860 CA322066 RCV000197606 rs143712760 RCV000787360 |
507 | A>S | Combined oxidative phosphorylation defect type 13 Autosomal recessive nonsyndromic hearing loss 70 Neurodevelopmental disorder Inborn genetic diseases Spinocerebellar ataxia type 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000191121 RCV000766604 RCV000845061 RCV000196452 CA250389 RCV002514095 RCV003152596 rs146571352 |
509 | V>I | Combined oxidative phosphorylation defect type 13 Spinocerebellar ataxia type 25 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000239707 CA10586243 rs879255657 RCV002518548 |
510 | A>P | Combined oxidative phosphorylation defect type 13 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001705075 RCV003147393 rs374698153 RCV000191120 CA250387 RCV002517033 |
531 | T>R | Combined oxidative phosphorylation defect type 13 Autosomal recessive nonsyndromic hearing loss 70 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002069318 rs202190573 RCV001249184 CA1668008 |
540 | N>S | Autosomal recessive nonsyndromic hearing loss 70 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001760432 RCV001332753 rs149843729 CA1667993 |
559 | A>G | Combined oxidative phosphorylation defect type 13 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000992671 RCV001332751 rs1572796197 |
642 | V>missing | Autosomal recessive nonsyndromic hearing loss 70 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1667855 RCV001336832 rs144252007 |
671 | D>V | Combined oxidative phosphorylation defect type 13 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs752550279 CA346923560 RCV000714516 |
713 | D>Y | Combined oxidative phosphorylation defect type 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA346923539 rs1318691269 RCV001336833 RCV001776203 |
716 | K>R | Autosomal recessive nonsyndromic hearing loss 70 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA1667741 RCV001290310 RCV001871733 rs574670461 |
738 | R>H | Combined oxidative phosphorylation defect type 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1274612757 CA346946926 |
2 | A>S | No |
ClinGen gnomAD |
|
|
CA346946921 rs1221982455 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs768146437 CA1668663 |
3 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs771479313 COSM1581496 CA1668660 |
4 | C>F | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs777069274 CA1668661 |
4 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs747893131 CA1668659 |
5 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1668658 rs778462144 |
5 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772663841 CA346946883 |
5 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA47667730 rs747893131 |
5 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs748125779 CA1668656 |
6 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs919792111 CA346946876 |
6 | Y>D | No |
ClinGen Ensembl |
|
|
CA47667729 rs919792111 |
6 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs764110672 CA47667728 |
7 | C>Y | No |
ClinGen Ensembl |
|
|
CA346946843 rs755085159 |
8 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668654 rs755085159 |
8 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542564002 COSM1741296 CA1668653 |
9 | S>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs542564002 CA1668652 |
9 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1443491433 CA346946800 |
10 | C>W | No |
ClinGen gnomAD |
|
|
CA1668650 rs750331676 |
10 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 11 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1262653 rs767320275 CA1668649 |
12 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1668647 rs750977497 |
14 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668648 rs199712282 |
14 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763665881 CA346946715 |
15 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668645 rs762690760 |
15 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs763665881 CA1668646 |
15 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1055917429 CA47667724 |
16 | L>P | No |
ClinGen TOPMed |
|
|
CA346946649 rs1358446950 |
17 | S>G | No |
ClinGen gnomAD |
|
|
rs1479659777 CA346946580 |
18 | D>Y | No |
ClinGen TOPMed |
|
|
CA1668644 rs775330306 |
19 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs936052670 CA47667723 |
19 | G>S | No |
ClinGen TOPMed |
|
|
rs945997854 CA346946510 |
21 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1041734330 CA47667722 |
21 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 22 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1668640 rs140022349 |
24 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1473421781 CA346946407 |
25 | R>W | No |
ClinGen gnomAD |
|
|
rs1572843301 CA346946317 |
27 | D>G | No |
ClinGen Ensembl |
|
|
rs1572843293 CA346946252 |
29 | A>G | No |
ClinGen Ensembl |
|
|
rs772397694 CA1668639 |
29 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1668637 rs778851186 |
30 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 30 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346946232 rs778851186 |
30 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668636 rs768834953 |
31 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA346946198 rs1305981751 |
32 | Q>E | No |
ClinGen gnomAD |
|
|
CA346946181 rs1292132234 |
32 | Q>H | No |
ClinGen gnomAD |
|
|
rs112446783 CA47667719 |
33 | L>S | No |
ClinGen Ensembl |
|
|
CA1668634 rs780299125 |
35 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559118026 CA346946047 |
37 | A>T | No |
ClinGen Ensembl |
|
|
CA346946002 rs1377433403 |
39 | W>R | No |
ClinGen gnomAD |
|
|
CA346945950 rs1330417543 |
41 | S>G | No |
ClinGen gnomAD |
|
|
CA346945930 rs1351205229 |
41 | S>R | No |
ClinGen gnomAD |
|
|
RCV000676647 CA321617 RCV000197174 rs140796438 |
41 | S>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1164894701 CA346945916 |
42 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1382825134 CA346945898 |
43 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346945892 rs1382825134 |
43 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA1668631 rs757078551 |
44 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs763488755 CA47667718 |
45 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA47667717 rs368157520 |
45 | R>L | No |
ClinGen Ensembl |
|
|
CA346945720 rs1248629548 |
49 | V>M | No |
ClinGen gnomAD |
|
|
rs764932743 CA346945642 |
50 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346945611 rs759272473 |
50 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs764932743 CA1668626 |
50 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346945647 rs1221287183 |
50 | D>Y | No |
ClinGen TOPMed |
|
|
CA1668624 rs767990424 |
52 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1668623 rs767990424 |
52 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1668622 rs774974954 |
53 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA346945510 rs1308271939 |
54 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA47666646 rs978885327 |
55 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 55 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1668594 rs746769778 |
58 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1223158655 CA346943257 |
58 | I>T | No |
ClinGen TOPMed |
|
|
rs951087523 CA47666643 |
59 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 60 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346943240 rs1321006057 |
60 | S>C | No |
ClinGen gnomAD |
|
|
rs1464194127 CA346943245 |
60 | S>P | No |
ClinGen TOPMed |
|
|
rs762070317 CA1668593 |
61 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs772064016 CA346943218 CA1668592 |
62 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA47666642 rs1025812729 |
64 | A>T | No |
ClinGen Ensembl |
|
|
rs1381025165 CA346943193 |
65 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1381025165 CA346943196 |
65 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA346943194 RCV001036905 rs1381025165 |
65 | R>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs113795154 CA47666640 |
66 | F>S | No |
ClinGen Ensembl |
|
|
CA346943150 rs1381897126 |
68 | D>G | No |
ClinGen gnomAD |
|
|
rs1303812368 CA346943140 |
69 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778550138 CA1668590 |
72 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA346943038 rs1173158844 |
74 | Q>R | No |
ClinGen gnomAD |
|
|
CA346942169 rs1559113343 |
75 | S>L | No |
ClinGen Ensembl |
|
|
CA346942134 rs1239776741 |
77 | D>G | No |
ClinGen gnomAD |
|
|
rs768510266 CA1668572 |
78 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748785356 CA1668571 |
79 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1211234471 CA346942056 |
81 | M>I | No |
ClinGen gnomAD |
|
|
CA346942047 rs1240879324 |
82 | V>A | No |
ClinGen TOPMed |
|
|
rs145552327 CA1668570 |
84 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA47666363 rs1016856864 |
85 | V>I | No |
ClinGen gnomAD |
|
|
rs1357844359 CA346941990 |
86 | S>G | No |
ClinGen gnomAD |
|
|
rs889352211 CA47666360 |
90 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA346941879 rs889352211 |
90 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1346995578 CA346941894 |
90 | P>S | No |
ClinGen TOPMed |
|
|
CA1668568 rs750110394 |
92 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA346941794 rs1250758485 |
95 | F>I | No |
ClinGen TOPMed |
|
|
CA346941753 rs1439955360 |
96 | M>I | No |
ClinGen TOPMed |
|
|
CA346941731 rs1197144736 |
97 | P>R | No |
ClinGen TOPMed |
|
|
rs1327159743 CA346941708 |
98 | L>F | No |
ClinGen gnomAD |
|
|
CA1668565 rs753173144 |
99 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs997850280 CA47666356 |
99 | V>L | No |
ClinGen Ensembl |
|
|
CA346941390 rs1446856783 |
103 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1668538 rs539047402 |
104 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1224656954 CA346941256 |
106 | A>D | No |
ClinGen Ensembl |
|
|
CA346941199 rs1324573848 |
107 | A>V | No |
ClinGen gnomAD |
|
|
rs1392732130 CA346941180 |
108 | A>V | No |
ClinGen TOPMed |
|
|
CA346941174 rs1461432452 |
109 | A>T | No |
ClinGen TOPMed |
|
|
rs762143037 CA346941017 |
113 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs762143037 CA1668536 |
113 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA47666056 rs930190521 |
113 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA346940920 rs1269852247 |
116 | Y>S | No |
ClinGen TOPMed |
|
|
rs863224168 CA320987 |
117 | L>P | No |
ClinGen TOPMed |
|
|
rs1324556801 COSM1532023 CA346940908 |
117 | L>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA346940785 rs757557556 |
119 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668532 rs757557556 |
119 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346940759 rs1173875817 |
120 | E>Q | No |
ClinGen gnomAD |
|
|
CA346940723 rs1572835132 |
121 | I>M | No |
ClinGen Ensembl |
|
|
CA346940733 rs1332391671 |
121 | I>N | No |
ClinGen TOPMed |
|
|
rs776130089 CA346940717 |
122 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776130089 CA1668530 |
122 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346940647 rs1185368233 |
124 | S>F | No |
ClinGen gnomAD |
|
|
CA346940622 rs1475386993 |
126 | K>E | No |
ClinGen gnomAD |
|
|
rs1452859387 CA346940576 |
127 | E>A | No |
ClinGen TOPMed |
|
|
CA346940574 rs1452859387 |
127 | E>G | No |
ClinGen TOPMed |
|
|
rs779319030 CA1668527 |
128 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA1668528 rs764292574 |
128 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668526 rs147272640 |
129 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV003066872 CA321958 rs780383722 |
132 | R>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA346940482 rs1320187955 |
132 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1668524 rs756714219 |
133 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416210140 CA346940437 |
134 | I>M | No |
ClinGen TOPMed |
|
|
CA1668523 rs750475281 |
134 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA47665770 rs148144235 |
135 | D>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1668487 rs775717775 |
136 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1668486 rs746356243 |
136 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346940138 rs775717775 |
136 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA1668482 rs572684828 |
140 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 140 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000596050 rs771597979 CA1668483 |
140 | P>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs948689653 CA47665764 |
143 | P>Q | No |
ClinGen TOPMed |
|
|
rs1042958677 CA47665765 |
143 | P>T | No |
ClinGen gnomAD |
|
|
rs753021266 CA1668479 |
144 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346939916 rs1455794671 |
146 | Y>C | No |
ClinGen gnomAD |
|
|
CA1668478 rs202197669 |
148 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142364070 CA1668477 |
150 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346939782 rs1399193883 |
150 | T>I | No |
ClinGen gnomAD |
|
|
rs368986484 CA1668458 |
153 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1462528617 CA346938955 |
154 | C>Y | No |
ClinGen gnomAD |
|
|
rs749022769 CA1668457 |
155 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1668455 rs554911413 |
156 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1668456 rs779832293 |
156 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374683384 CA1668454 |
157 | L>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766919363 CA1668453 |
158 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668452 rs756832407 |
158 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs751146245 CA1668451 |
159 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs150329481 CA1668450 |
161 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1668449 rs762710802 |
163 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1404121022 CA346938880 |
167 | V>I | No |
ClinGen gnomAD |
|
|
rs772482996 CA1668445 |
170 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772482996 CA1668446 |
170 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000489241 CA1668443 rs774425075 |
173 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV000520628 rs1553501171 CA346938822 |
174 | S>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs768009098 CA1668426 |
175 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668427 rs768009098 |
175 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365308037 CA346938817 |
176 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs566212594 CA1668424 |
176 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775821844 CA1668421 |
180 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA346938789 rs775821844 |
180 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1371768513 CA346938778 |
182 | I>F | No |
ClinGen TOPMed |
|
|
rs745631221 CA1668419 |
183 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA346938767 rs1354762714 |
184 | W>R | No |
ClinGen gnomAD |
|
|
CA47665044 rs942143029 |
187 | P>R | No |
ClinGen Ensembl |
|
|
CA346938736 rs1240038968 |
188 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs142168803 CA47664835 |
190 | A>S | No |
ClinGen ESP TOPMed |
|
|
CA346938088 rs1477341534 |
191 | V>L | No |
ClinGen gnomAD |
|
|
COSM284121 rs991366882 CA47664832 |
192 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM3426561 RCV000195523 CA319876 rs772153760 |
192 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs747636323 CA1668395 |
195 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 199 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778289436 CA1668394 |
199 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1668393 rs766868938 |
200 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA1668392 rs754652198 |
201 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1233343517 CA346937658 |
202 | V>G | No |
ClinGen TOPMed |
|
|
rs1217507378 CA346937600 |
204 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs561640152 CA47664825 |
205 | T>A | No |
ClinGen 1000Genomes |
|
|
CA1668390 rs781600050 |
206 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA346937426 rs1394636081 |
208 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA346937438 rs1226592011 |
208 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 210 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1668389 rs757659736 |
211 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1010322579 CA47664820 |
212 | S>I | No |
ClinGen TOPMed |
|
|
rs751952453 CA1668388 |
213 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244665872 CA346937226 |
215 | N>K | No |
ClinGen TOPMed |
|
|
CA1668387 rs764539958 |
216 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758922668 CA1668386 |
217 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs752759589 CA1668385 |
223 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668384 rs765303711 |
223 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs891974446 CA47664816 |
225 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA346936786 rs1342445989 |
226 | I>T | No |
ClinGen gnomAD |
|
|
CA346934813 rs1282915678 |
228 | M>I | No |
ClinGen TOPMed |
|
|
rs1180408514 CA346934819 |
228 | M>R | No |
ClinGen gnomAD |
|
|
rs1180408514 CA346934822 |
228 | M>T | No |
ClinGen gnomAD |
|
|
rs1221528307 CA346934823 |
228 | M>V | No |
ClinGen TOPMed |
|
|
CA346934776 rs1218336295 |
230 | E>D | No |
ClinGen TOPMed |
|
|
CA47663401 rs995232106 |
232 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1485515640 CA346934728 |
234 | E>K | No |
ClinGen TOPMed |
|
|
CA1668361 rs754969028 |
235 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1223113698 CA346934645 |
239 | Q>E | No |
ClinGen gnomAD |
|
|
CA1668360 rs766647494 |
239 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA1668359 rs766647494 |
239 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 241 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760982273 CA1668358 |
245 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs924557682 CA47663396 |
245 | I>V | No |
ClinGen gnomAD |
|
|
CA1668355 rs761790478 |
247 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1668356 rs574988767 CA1668357 |
247 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774197508 CA1668354 |
249 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774998892 CA1668351 |
251 | Y>C | No |
ClinGen ExAC |
|
|
CA1668352 rs748698236 |
251 | Y>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 252 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1668348 rs778100619 |
254 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346934380 rs778100619 |
254 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346934345 rs1408763547 |
255 | I>V | No |
ClinGen TOPMed |
|
|
CA346934325 rs1408940774 |
256 | I>V | No |
ClinGen gnomAD |
|
|
CA346934294 rs1181698489 |
257 | Q>R | No |
ClinGen gnomAD |
|
|
rs1271131180 CA346934268 |
259 | I>V | No |
ClinGen gnomAD |
|
|
CA1668344 rs755518580 |
261 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA346934113 rs1572824139 |
263 | V>A | No |
ClinGen Ensembl |
|
|
rs1317258894 CA346934096 |
264 | K>Q | No |
ClinGen gnomAD |
|
|
rs1267156042 CA346933997 |
267 | G>D | No |
ClinGen gnomAD |
|
|
CA346934012 rs1231042394 |
267 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346933970 rs1226174832 |
268 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs756389591 CA1668341 |
269 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1283296460 CA346933906 |
270 | K>R | No |
ClinGen gnomAD |
|
|
rs750722173 CA1668340 |
272 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA346933781 rs1367460436 |
273 | P>L | No |
ClinGen gnomAD |
|
|
CA346933746 rs1572824098 |
274 | Q>R | No |
ClinGen Ensembl |
|
|
rs1313434716 CA346933723 |
275 | K>N | No |
ClinGen TOPMed |
|
|
rs767390956 CA1668339 |
277 | F>L | No |
ClinGen ExAC |
|
|
rs1342247075 CA346933680 |
277 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 278 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1668338 rs572632492 |
278 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA47663370 rs867426361 |
279 | P>R | No |
ClinGen Ensembl |
|
|
CA47663372 rs375710858 |
279 | P>T | No |
ClinGen ESP TOPMed |
|
|
rs143022417 COSM3839738 CA47663367 |
280 | S>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA1668334 rs774980599 |
282 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572824033 CA346933484 |
284 | V>M | No |
ClinGen Ensembl |
|
|
rs1572824007 CA346933394 |
287 | T>A | No |
ClinGen Ensembl |
|
|
CA1668333 rs759169641 |
287 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141543222 RCV000829252 CA1668331 |
288 | H>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1454858067 CA346933346 |
289 | K>R | No |
ClinGen TOPMed |
|
|
rs758995857 CA1668315 |
290 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA47663202 rs928642617 |
292 | M>T | No |
ClinGen TOPMed |
|
|
rs533576539 CA1668314 COSM1581495 |
292 | M>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA47663201 rs981886008 |
293 | E>D | No |
ClinGen TOPMed |
|
|
rs1297361251 CA346932340 |
294 | R>K | No |
ClinGen gnomAD |
|
|
CA346932324 rs770419513 |
295 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668313 rs770419513 |
295 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001864927 COSM1581494 rs137893343 CA324589 |
296 | Y>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1313775634 CA346932305 |
296 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 297 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346932207 rs1369831810 |
298 | V>D | No |
ClinGen gnomAD |
|
|
rs534505993 CA1668310 |
298 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187922600 CA1668307 |
302 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187922600 CA1668308 |
302 | Y>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1668306 rs201351041 |
303 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1668305 rs747318073 |
303 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1239299130 CA346931996 |
305 | D>E | No |
ClinGen TOPMed |
|
|
rs771094426 CA1668288 |
307 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA1668287 rs747171410 |
311 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1229179462 CA346931717 |
312 | A>G | No |
ClinGen gnomAD |
|
|
CA346931711 rs1425100064 |
313 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1572822559 CA346931668 |
315 | K>E | No |
ClinGen Ensembl |
|
|
RCV000440491 RCV000198672 CA323215 rs35405862 |
315 | K>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA346931558 rs1375290198 |
318 | L>F | No |
ClinGen TOPMed |
|
|
CA346931566 rs1406752184 |
318 | L>S | No |
ClinGen gnomAD |
|
|
rs1050293585 CA47663064 |
319 | D>G | No |
ClinGen gnomAD |
|
|
rs200555807 CA1668285 COSM1408714 |
320 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346931516 rs1384915311 |
320 | T>S | No |
ClinGen TOPMed |
|
|
CA1668283 rs754895697 |
321 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA1668282 rs753862510 |
321 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320816360 CA346931364 |
324 | L>V | No |
ClinGen gnomAD |
|
|
rs949501018 CA47662132 |
326 | E>G | No |
ClinGen TOPMed |
|
|
CA346931298 rs1409203736 |
326 | E>Q | No |
ClinGen gnomAD |
|
|
rs1572819481 CA346929572 |
327 | K>N | No |
ClinGen Ensembl |
|
|
rs1202650771 CA346929579 |
327 | K>R | No |
ClinGen TOPMed |
|
|
rs1572819477 CA346929535 |
330 | E>K | No |
ClinGen Ensembl |
|
|
rs1273078390 CA346929503 |
331 | A>G | No |
ClinGen TOPMed |
|
|
CA346929484 rs779991123 |
332 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668261 rs779991123 |
332 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668262 rs749066411 |
332 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538713029 CA346929470 |
333 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538713029 CA1668260 |
333 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1668257 COSM1614975 rs756959813 |
334 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA346929433 rs1341359718 |
335 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs751309672 CA1668256 |
338 | E>K | No |
ClinGen ExAC |
|
|
rs1298114596 CA346929344 |
339 | S>Y | No |
ClinGen gnomAD |
|
|
rs759908051 CA1668254 |
341 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346929232 rs766839497 |
343 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668252 rs766839497 |
343 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199913814 CA47662127 |
344 | A>T | No |
ClinGen Ensembl |
|
|
rs1384673806 CA346929173 |
345 | K>E | No |
ClinGen TOPMed |
|
|
CA346929107 rs1301042674 |
347 | V>F | No |
ClinGen TOPMed |
|
|
rs1331603359 CA346929079 |
348 | F>C | No |
ClinGen gnomAD |
|
|
CA346929076 rs1235843021 |
348 | F>L | No |
ClinGen TOPMed |
|
|
rs773263940 CA1668250 |
348 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668249 rs772187154 |
349 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs570650958 CA1668248 |
350 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1205970061 CA346929028 |
351 | I>T | No |
ClinGen TOPMed |
|
|
rs1342052916 CA346929032 |
351 | I>V | No |
ClinGen TOPMed |
|
|
CA346929021 rs1276777589 |
352 | V>F | No |
ClinGen TOPMed |
|
|
CA47662122 rs938033053 |
353 | L>M | No |
ClinGen TOPMed |
|
|
CA346929010 rs774514583 |
354 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774514583 CA1668247 |
354 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879255427 RCV000238692 CA10585970 |
356 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA346928981 rs1435471989 |
356 | Y>F | No |
ClinGen gnomAD |
|
|
rs768887389 CA1668246 |
357 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668245 rs749055112 |
357 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1246087488 CA346928841 |
359 | C>Y | No |
ClinGen TOPMed |
|
|
CA1668225 rs776674650 |
360 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA346928817 rs1321833311 |
361 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs763020630 CA1668224 |
361 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346928814 rs1321833311 |
361 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs369037911 CA1668222 |
362 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151216278 CA1668223 |
362 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA346928801 rs1395733679 |
363 | D>Y | No |
ClinGen TOPMed |
|
|
rs1158487048 CA346928772 |
365 | T>A | No |
ClinGen gnomAD |
|
|
rs142840568 CA1668221 |
367 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs538251642 CA1668220 |
371 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed |
|
CA346928684 rs1191645692 |
373 | E>A | No |
ClinGen gnomAD |
|
|
CA1668218 rs756392408 |
375 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1210273696 CA346928671 |
375 | D>V | No |
ClinGen gnomAD |
|
|
CA1668217 rs143647681 |
376 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346928667 rs1465051404 |
376 | M>V | No |
ClinGen gnomAD |
|
|
CA346928653 rs1370033589 |
377 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 380 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346928631 rs267599414 |
381 | H>D | No |
ClinGen gnomAD |
|
|
rs267599414 CA47661909 |
381 | H>Y | No |
ClinGen gnomAD |
|
|
CA346928620 rs1325008807 |
382 | G>V | No |
ClinGen gnomAD |
|
|
CA346928617 rs757766273 |
383 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA1668216 rs767953053 |
383 | S>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1483167 rs757766273 CA1668215 |
383 | S>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA346928619 rs767953053 |
383 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1367421909 CA346928615 |
384 | A>P | No |
ClinGen gnomAD |
|
|
rs1273427486 CA346928610 |
384 | A>V | No |
ClinGen gnomAD |
|
|
CA346928580 rs1338957358 |
389 | G>R | No |
ClinGen TOPMed |
|
|
CA346928565 rs1244275589 |
391 | T>A | No |
ClinGen TOPMed |
|
|
CA1668214 rs751635419 |
391 | T>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000478961 rs1064793593 |
392 | Q>missing | No |
ClinVar dbSNP |
|
|
CA1668212 rs754097540 |
392 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1425170426 CA346928495 |
396 | T>S | No |
ClinGen gnomAD |
|
|
CA1668195 rs200016391 |
397 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346928490 rs200016391 |
397 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs572197911 CA47657393 |
399 | F>C | No |
ClinGen 1000Genomes |
|
|
CA1668193 rs764205766 |
403 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1668194 rs764205766 |
403 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1037446559 CA47657386 |
407 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1207839416 CA346928413 |
408 | S>L | No |
ClinGen gnomAD |
|
|
CA47657384 rs914752739 |
410 | Q>P | No |
ClinGen Ensembl |
|
|
CA1668192 rs551750608 |
411 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551750608 CA346928395 |
411 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346928382 rs1250365882 |
413 | T>A | No |
ClinGen gnomAD |
|
|
CA346928372 rs1225587809 |
414 | A>V | No |
ClinGen gnomAD |
|
|
CA346928370 rs1323700596 |
415 | I>V | No |
ClinGen gnomAD |
|
|
CA1668191 rs752847895 |
416 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs775084978 CA1668156 |
417 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1668155 rs747283643 |
418 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1328511366 CA346928143 |
419 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 422 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431159901 CA346928079 |
423 | F>V | No |
ClinGen TOPMed |
|
|
rs778207996 CA1668154 |
424 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1668152 rs747122326 |
426 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1197642749 CA346928035 |
426 | H>R | No |
ClinGen TOPMed |
|
|
rs1559097550 CA346928025 |
427 | Y>N | No |
ClinGen Ensembl |
|
|
rs1320755652 CA346928007 |
428 | E>K | No |
ClinGen gnomAD |
|
|
rs1227277261 CA346927533 |
430 | P>L | No |
ClinGen gnomAD |
|
|
CA346927541 rs1275067593 |
430 | P>S | No |
ClinGen gnomAD |
|
|
rs1337007318 CA346927527 |
431 | P>S | No |
ClinGen gnomAD |
|
|
CA346927496 rs1572809274 |
433 | A>E | No |
ClinGen Ensembl |
|
|
rs780819329 CA346927487 |
434 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs757038741 CA346927482 |
434 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668118 rs757038741 |
434 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668119 rs780819329 |
434 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1041018213 CA47655368 |
435 | N>S | No |
ClinGen TOPMed |
|
|
CA346927432 rs1572809240 |
438 | G>C | No |
ClinGen Ensembl |
|
|
CA1668116 rs763964798 |
438 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA346927423 rs1427721832 |
439 | K>E | No |
ClinGen TOPMed |
|
|
CA346927389 rs1170801211 |
441 | T>I | No |
ClinGen TOPMed |
|
|
CA346927386 rs1259903831 |
442 | G>R | No |
ClinGen gnomAD |
|
|
CA346927360 rs1559095292 |
444 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 447 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346927316 rs762838320 |
447 | E>D | No |
ClinGen TOPMed |
|
|
CA1668112 rs759076646 |
448 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs776304107 CA1668111 |
448 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA346927231 rs1473590326 |
451 | G>D | No |
ClinGen gnomAD |
|
|
CA47655289 rs376803449 |
452 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1668097 rs376803449 |
452 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141173235 CA1668096 |
453 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1248233996 CA346927146 |
459 | Y>H | No |
ClinGen gnomAD |
|
|
CA1668095 rs752666494 |
461 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754458499 CA1668094 |
464 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs866235322 CA47655276 |
465 | D>N | No |
ClinGen Ensembl |
|
|
CA1668093 rs557649588 |
466 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1329170892 CA346927077 |
467 | P>R | No |
ClinGen gnomAD |
|
|
CA346927053 rs1413266431 |
470 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1371706446 CA346927017 |
472 | V>G | No |
ClinGen gnomAD |
|
|
rs1223711847 CA346927024 |
472 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 474 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1668089 COSM1581493 rs146990953 |
478 | E>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA346926951 rs1324077008 |
479 | S>* | No |
ClinGen gnomAD |
|
|
CA47655256 rs762652967 |
480 | N>Y | No |
ClinGen Ensembl |
|
|
CA346926917 rs1433874162 |
482 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA47654842 rs780143188 |
484 | S>C | No |
ClinGen Ensembl |
|
|
CA1668067 rs767310806 |
485 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA1668066 rs138669964 |
485 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1668065 rs753018790 |
486 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184288105 CA346926893 |
487 | S>P | No |
ClinGen gnomAD |
|
|
rs776762465 CA1668062 |
488 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 489 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346926872 rs1428325233 |
490 | G>A | No |
ClinGen TOPMed |
|
|
CA1668060 rs760772034 |
490 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA346926868 rs1318975971 |
491 | G>E | No |
ClinGen gnomAD |
|
|
CA1668058 rs772291464 |
491 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs747869391 CA1668057 |
492 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA346926853 rs1308336641 |
493 | L>F | No |
ClinGen gnomAD |
|
|
rs111863025 CA47654812 |
496 | M>T | No |
ClinGen Ensembl |
|
|
rs773282393 CA1668040 |
500 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs767719484 CA1668039 |
502 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1668038 rs761997636 |
504 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1416075980 CA346926160 |
505 | A>P | No |
ClinGen gnomAD |
|
|
rs774172721 CA1668037 |
506 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1023469259 CA47651898 |
507 | A>G | No |
ClinGen Ensembl |
|
|
CA1668035 rs769867915 |
509 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA47651877 rs1015685081 |
511 | I>V | No |
ClinGen Ensembl |
|
|
rs1273999507 CA346926098 |
514 | V>A | No |
ClinGen gnomAD |
|
|
rs1213166669 CA346926090 |
515 | T>S | No |
ClinGen gnomAD |
|
|
CA1668032 rs756961965 |
518 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668033 rs201931980 |
518 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346926004 rs746676928 |
521 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668031 rs746676928 |
521 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1668030 rs755262977 |
522 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA1668029 rs755262977 |
522 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 523 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346925964 rs1167475108 |
524 | I>K | No |
ClinGen TOPMed |
|
|
rs1324735552 CA346925959 |
524 | I>M | No |
ClinGen gnomAD |
|
|
CA1668026 rs766817661 |
528 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs367713105 CA1668025 |
528 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1347016520 CA346925879 |
530 | L>P | No |
ClinGen TOPMed |
|
|
rs774387774 CA1668022 |
533 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs771773027 CA1668009 |
535 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259581811 CA346925668 |
542 | D>E | No |
ClinGen gnomAD |
|
|
CA346925653 rs1202104516 |
544 | D>Y | No |
ClinGen gnomAD |
|
|
CA346925630 rs1247914197 |
547 | I>V | No |
ClinGen TOPMed |
|
|
rs1231679396 CA346925609 |
550 | T>N | No |
ClinGen gnomAD |
|
|
rs1303070009 CA346925612 |
550 | T>S | No |
ClinGen gnomAD |
|
|
CA346925602 rs1434984353 |
551 | N>S | No |
ClinGen gnomAD |
|
|
CA346925595 rs1270365719 |
552 | K>T | No |
ClinGen gnomAD |
|
|
rs750978015 CA1668006 |
553 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1553493871 RCV000591053 |
554 | I>missing | No |
ClinVar dbSNP |
|
|
rs1185596172 CA346925574 |
555 | T>S | No |
ClinGen TOPMed |
|
|
CA1667992 rs771621303 |
560 | D>Y | No |
ClinGen ExAC |
|
|
rs1293159390 CA346925516 |
562 | K>R | No |
ClinGen gnomAD |
|
|
rs746263351 CA1667983 |
567 | P>R | No |
ClinGen ExAC TOPMed |
|
|
CA1667982 rs781612777 |
568 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1667981 rs757794372 |
569 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 570 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759919560 CA47651489 |
572 | M>I | No |
ClinGen Ensembl |
|
|
rs931315937 CA47651491 |
572 | M>K | No |
ClinGen Ensembl |
|
|
rs75290562 CA1667980 |
572 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373628268 CA1667978 |
573 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA346925447 rs1185622350 |
573 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs758515619 CA1667977 |
574 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1216991816 CA346925412 |
578 | A>P | No |
ClinGen Ensembl |
|
|
CA346924988 rs1370166745 |
580 | V>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 581 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1667955 rs755312763 |
582 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA346924956 rs1559088295 |
583 | K>Q | No |
ClinGen Ensembl |
|
| rs35239216 | 583 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1667951 rs755985160 |
585 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs766238633 CA1667952 |
585 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767387569 CA1667949 |
586 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs761246555 CA1667948 |
588 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1485878239 CA346924859 |
589 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs773863798 CA1667947 |
589 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs7594497 RCV000676642 RCV000176330 VAR_027788 CA302840 |
590 | N>D | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1667946 rs762660177 |
590 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1667945 rs542676905 RCV000512732 |
591 | K>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs771374358 CA1667944 |
591 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1667942 rs200944866 |
594 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773725937 CA1667941 |
594 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA1667940 rs368876074 |
595 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1029639924 CA346924767 |
596 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1029639924 CA47651075 |
596 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1288276942 CA346924762 |
597 | R>G | No |
ClinGen gnomAD |
|
|
CA1667939 rs748230562 |
597 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 599 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1667937 rs147375807 |
599 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1433818519 CA346924744 |
600 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 603 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346924710 rs1392899293 |
604 | G>A | No |
ClinGen gnomAD |
|
|
rs1172004107 CA346924704 |
605 | P>H | No |
ClinGen gnomAD |
|
|
rs1418145935 CA346924697 |
606 | V>A | No |
ClinGen gnomAD |
|
|
CA346924701 rs1351127647 |
606 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 607 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186492537 CA346924695 |
607 | V>L | No |
ClinGen gnomAD |
|
|
rs1042186161 CA47650741 |
610 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 611 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752148258 CA1667910 |
612 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346924603 rs1413177940 |
613 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 614 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1445239489 CA346924579 |
615 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 616 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA47650730 rs992877769 |
617 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA47650733 rs992877769 |
617 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1667909 rs764882684 |
617 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1667908 rs759181116 |
618 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1442468483 CA346924542 |
618 | A>S | No |
ClinGen gnomAD |
|
|
CA1667907 rs750772664 |
619 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750772664 CA47650720 |
619 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1667906 rs768045431 |
619 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 620 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161764448 CA346924452 |
625 | G>D | No |
ClinGen gnomAD |
|
|
CA346924448 rs1161764448 |
625 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 628 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA47650711 rs1034316533 |
632 | Q>H | No |
ClinGen TOPMed |
|
|
rs143197548 CA1667874 |
636 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346924095 rs1233251024 |
637 | V>I | No |
ClinGen TOPMed |
|
|
CA346924090 rs1477119169 |
638 | T>A | No |
ClinGen gnomAD |
|
|
rs375324746 CA1667873 |
638 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375324746 CA1667872 |
638 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748813401 CA1667871 |
639 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1667867 rs751967584 |
644 | E>A | No |
ClinGen ExAC |
|
|
rs758915545 CA346924033 |
646 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs758915545 CA1667865 |
646 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA346924017 COSM1483166 rs1226004660 |
649 | V>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs992009131 CA47650168 |
652 | P>Q | No |
ClinGen gnomAD |
|
|
rs1276789896 CA346923997 |
652 | P>S | No |
ClinGen gnomAD |
|
|
rs765801538 CA346923985 |
654 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs765801538 CA324715 RCV000200155 |
654 | P>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1333822600 CA346923981 |
655 | S>R | No |
ClinGen gnomAD |
|
|
rs766570634 CA1667862 |
657 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA346923956 rs545932442 |
658 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1667861 rs545932442 |
658 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1168592877 CA346923957 |
658 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1667859 rs771717475 |
660 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs748010299 CA1667858 |
660 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201269381 CA1667857 |
661 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201269381 CA346923938 |
661 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1268508934 CA346923934 |
662 | D>N | No |
ClinGen TOPMed |
|
|
rs760643019 CA346923919 |
663 | F>L | No |
ClinGen TOPMed |
|
|
rs1185019622 CA346923907 |
665 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346923886 rs1276983027 |
668 | C>S | No |
ClinGen TOPMed |
|
| TCGA novel | 668 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346923878 rs1219934107 |
669 | K>R | No |
ClinGen TOPMed |
|
|
CA346923870 rs1268172388 |
670 | D>G | No |
ClinGen TOPMed |
|
|
rs144252007 CA1667854 |
671 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA47650148 rs1006634805 |
671 | D>N | No |
ClinGen Ensembl |
|
|
CA346923842 rs1304473282 |
672 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 675 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346923809 rs1259512522 |
677 | E>Q | No |
ClinGen TOPMed |
|
|
rs892034383 CA47650044 |
678 | F>V | No |
ClinGen Ensembl |
|
|
rs1402295663 CA346923785 |
680 | A>E | No |
ClinGen gnomAD |
|
|
rs1402295663 CA346923786 RCV001314418 |
680 | A>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA346923774 rs1437401705 |
682 | Y>C | No |
ClinGen gnomAD |
|
|
rs1572795905 CA346923769 |
683 | T>P | No |
ClinGen Ensembl |
|
|
rs767608725 CA322547 |
684 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA346923753 rs1246706797 |
685 | T>I | No |
ClinGen gnomAD |
|
|
rs1249572598 CA346923740 |
687 | T>I | No |
ClinGen TOPMed |
|
|
rs780574835 CA1667827 |
688 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA346923735 rs1449149749 |
688 | E>G | No |
ClinGen gnomAD |
|
|
rs1012368621 CA47649139 |
692 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1416088624 CA346923689 |
693 | G>A | No |
ClinGen TOPMed |
|
|
CA346923687 rs1465207908 |
694 | V>I | No |
ClinGen gnomAD |
|
|
CA346923672 rs1304159015 |
696 | V>I | No |
ClinGen TOPMed |
|
|
rs1171936182 CA346923650 |
699 | Y>D | No |
ClinGen gnomAD |
|
|
rs1409987281 CA346923643 |
700 | P>A | No |
ClinGen gnomAD |
|
|
CA1667806 rs200224969 |
701 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1667805 rs148804101 |
702 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781375048 CA1667804 |
704 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346923590 rs1291303562 |
708 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs367694300 CA1667802 |
710 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367694300 CA346923574 |
710 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1667801 rs758199841 |
711 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139409846 CA47649123 |
712 | L>F | No |
ClinGen ESP TOPMed |
|
|
rs752550279 CA1667799 |
713 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1222831770 CA346923554 |
714 | Q>K | No |
ClinGen Ensembl |
|
|
CA346923546 rs1249826298 |
715 | R>G | No |
ClinGen TOPMed |
|
|
CA1667798 rs765249456 COSM192214 |
715 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 716 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346923514 rs1161608545 |
718 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1379869565 CA346923472 |
724 | G>A | No |
ClinGen gnomAD |
|
|
rs768946918 CA346923463 |
726 | E>K | No |
ClinGen TOPMed |
|
|
CA47647743 rs768946918 |
726 | E>Q | No |
ClinGen TOPMed |
|
|
rs1176876470 CA346923451 |
727 | V>A | No |
ClinGen gnomAD |
|
|
rs139578402 CA1667765 |
728 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA346923449 rs1244397491 |
728 | G>D | No |
ClinGen TOPMed |
|
|
rs139578402 CA1667766 |
728 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771353755 CA1667763 |
729 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1667762 rs747067992 |
730 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1228800641 CA346923439 |
730 | E>K | No |
ClinGen gnomAD |
|
|
CA1667761 rs778061496 |
731 | I>V | No |
ClinGen ExAC |
|
|
CA1667760 rs772389842 |
732 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1254933985 CA346923396 |
734 | K>N | No |
ClinGen gnomAD |
|
|
rs201915155 CA47647150 |
734 | K>R | No |
ClinGen 1000Genomes |
|
|
CA346923391 rs1395860833 |
735 | Y>S | No |
ClinGen TOPMed |
|
|
rs1572789751 CA346923380 |
736 | F>L | No |
ClinGen Ensembl |
|
|
CA1667742 rs374166754 |
736 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1033071660 CA47647145 |
738 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs748246897 CA1667740 |
739 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1402909857 CA346923353 |
741 | A>D | No |
ClinGen TOPMed |
|
|
CA346923355 rs1340279242 |
741 | A>P | No |
ClinGen gnomAD |
|
|
CA1667738 rs187750584 |
742 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779754492 CA1667736 |
744 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1425696642 CA346923327 |
745 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs756023267 CA1667735 |
745 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA346923315 rs1171295536 |
747 | L>V | No |
ClinGen gnomAD |
|
|
rs1465912358 COSM1021897 CA346923302 |
749 | R>Q | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1572789693 CA346923272 |
753 | Q>H | No |
ClinGen Ensembl |
|
|
CA1667731 rs756689143 |
754 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1667729 rs145553870 |
759 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145553870 CA1667728 |
759 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346923238 rs1340851603 |
760 | V>I | No |
ClinGen gnomAD |
|
|
CA1667727 rs754196574 |
763 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1667726 rs376543538 |
764 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146977004 CA1667725 |
765 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346923191 rs1276737319 |
767 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs566113211 CA1667723 |
768 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346923179 rs1333679802 |
768 | S>R | No |
ClinGen gnomAD |
|
|
rs772722575 CA1667722 |
769 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1390037117 CA346923160 |
771 | M>T | No |
ClinGen TOPMed |
|
|
CA1667721 rs761975436 |
772 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs774365432 CA1667720 |
774 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346923138 rs1170523930 |
775 | I>L | No |
ClinGen TOPMed |
|
| TCGA novel | 777 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 778 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201880461 CA1667716 |
779 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1667717 rs201498158 |
779 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA346923103 rs1184938392 |
780 | S>C | No |
ClinGen gnomAD |
|
|
rs1184938392 CA346923102 |
780 | S>F | No |
ClinGen gnomAD |
|
|
rs1051308974 CA47647091 |
782 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs866131474 CA47647088 |
784 | Q>C | No |
ClinGen Ensembl |
|
|
CA346923079 rs1457731684 |
784 | Q>G | No |
ClinGen gnomAD |
2 associated diseases with Q8TCS8
[MIM: 614932]: Combined oxidative phosphorylation deficiency 13 (COXPD13)
A mitochondrial disorder characterized by early onset severe encephalomyopathy, dystonia, choreoathetosis, bucofacial dyskinesias and combined mitochondrial respiratory chain deficiency. Nerve conductions velocities are decreased. Levels of plasma and cerebrospinal fluid lactate are increased. {ECO:0000269|PubMed:23084291}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 614934]: Deafness, autosomal recessive, 70 (DFNB70)
A form of non-syndromic deafness characterized by severe, bilateral hearing impairment with prelingual onset, resulting in inability to acquire normal speech. {ECO:0000269|PubMed:23084290}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A mitochondrial disorder characterized by early onset severe encephalomyopathy, dystonia, choreoathetosis, bucofacial dyskinesias and combined mitochondrial respiratory chain deficiency. Nerve conductions velocities are decreased. Levels of plasma and cerebrospinal fluid lactate are increased. {ECO:0000269|PubMed:23084291}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of non-syndromic deafness characterized by severe, bilateral hearing impairment with prelingual onset, resulting in inability to acquire normal speech. {ECO:0000269|PubMed:23084290}. Note=The disease is caused by variants affecting the gene represented in this entry.
8 regional properties for Q8TCS8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Exoribonuclease, phosphorolytic domain 1 | 54 - 183 | IPR001247-1 |
| domain | Exoribonuclease, phosphorolytic domain 1 | 367 - 501 | IPR001247-2 |
| domain | S1 domain | 679 - 750 | IPR003029 |
| domain | K Homology domain | 604 - 669 | IPR004087 |
| domain | K Homology domain, type 1 | 608 - 665 | IPR004088 |
| domain | Exoribonuclease, phosphorolytic domain 2 | 186 - 250 | IPR015847 |
| domain | Polyribonucleotide nucleotidyltransferase, RNA-binding domain | 285 - 363 | IPR015848 |
| domain | RNA-binding domain, S1 | 677 - 750 | IPR022967 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.7.8 | Nucleotidyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| mitochondrial degradosome | A mitochondrial protein complex with 3' to 5' exoribonuclease activity that participates in intron-independent turnover and processing of mitochondrial transcripts. In humans, the mitochondrial degradosome is a pentameric complex, and in yeast it exists as a heterodimer. |
| mitochondrial intermembrane space | The region between the inner and outer lipid bilayers of the mitochondrial envelope. |
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| polysomal ribosome | A ribosome bound to mRNA that forms part of a polysome. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3'-5'-exoribonuclease activity | Catalysis of the sequential cleavage of mononucleotides from a free 3' terminus of an RNA molecule. |
| miRNA binding | Binding to a microRNA, a 21-23 nucleotide RNA that is processed from a stem-loop RNA precursor (pre-miRNA) that is encoded within plant and animal genomes. |
| poly(G) binding | Binding to a sequence of guanine residues in an RNA molecule. |
| poly(U) RNA binding | Binding to a sequence of uracil residues in an RNA molecule. |
| polyribonucleotide nucleotidyltransferase activity | Catalysis of the reaction: RNA(n+1) + phosphate <=> RNA(n) + a nucleoside diphosphate. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
26 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to interferon-beta | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-beta stimulus. Interferon-beta is a type I interferon. |
| cellular response to oxidative stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals. |
| liver regeneration | The regrowth of lost or destroyed liver. |
| mitochondrial mRNA catabolic process | The chemical reactions and pathways resulting in the breakdown of mRNA transcribed from the mitochondrial genome and occurring in the mitochondrion. |
| mitochondrial mRNA polyadenylation | The enzymatic addition of a sequence of 40-60 adenylyl residues at the 3' end of a eukaryotic mitochondrial mRNA primary transcript. Mitochondria contain both stabilizing and destabilizing poly(A) tails. |
| mitochondrial RNA 3'-end processing | Any process involved in forming the mature 3' end of an RNA molecule transcribed from a mitochondrial genome; occurs in the mitochondrion. |
| mitochondrial RNA 5'-end processing | Any process involved in forming the mature 5' end of an RNA molecule transcribed from a mitochondrial genome; occurs in the mitochondrion. |
| mitochondrial RNA catabolic process | The chemical reactions and pathways resulting in the breakdown of RNA transcribed from the mitochondrial genome and occurring in the mitochondrion. |
| mitochondrion morphogenesis | The process in which the anatomical structures of a mitochondrion are generated and organized. |
| mRNA catabolic process | The chemical reactions and pathways resulting in the breakdown of mRNA, messenger RNA, which is responsible for carrying the coded genetic 'message', transcribed from DNA, to sites of protein assembly at the ribosomes. |
| negative regulation of growth | Any process that stops, prevents or reduces the rate or extent of growth, the increase in size or mass of all or part of an organism. |
| nuclear polyadenylation-dependent mRNA catabolic process | The chemical reactions and pathways occurring in the nucleus and resulting in the breakdown of a messenger RNA (mRNA) molecule, initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target mRNA. |
| positive regulation of miRNA catabolic process | Any process that activates or increases the frequency, rate or extent of miRNA catabolic process. |
| positive regulation of mitochondrial RNA catabolic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving catabolism in the mitochondrion of RNA transcribed from the mitochondrial genome. |
| positive regulation of mRNA catabolic process | Any process that increases the rate, frequency, or extent of a mRNA catabolic process, the chemical reactions and pathways resulting in the breakdown of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. |
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| protein homotrimerization | The formation of a protein homotrimer, a macromolecular structure consisting of three noncovalently associated identical subunits. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| regulation of cellular respiration | Any process that modulates the frequency, rate or extent of cellular respiration, the enzymatic release of energy from organic compounds. |
| regulation of cellular senescence | Any process that modulates the frequency, rate or extent of cellular senescence. |
| response to cAMP | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus. |
| response to growth hormone | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth hormone stimulus. Growth hormone is a peptide hormone that binds to the growth hormone receptor and stimulates growth. |
| RNA catabolic process | The chemical reactions and pathways resulting in the breakdown of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. |
| RNA import into mitochondrion | The process in which a rRNA, ribosomal ribonucleic acid, is transported from the cytosol into the mitochondrial matrix. |
| RNA polyadenylation | The enzymatic addition of a sequence of adenylyl residues at the 3' end of an RNA molecule. |
| rRNA import into mitochondrion | The process in which a rRNA, ribosomal ribonucleic acid, transported from the cytosol into the mitochondrial matrix. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P05055 | pnp | Polyribonucleotide nucleotidyltransferase | Escherichia coli (strain K12) | PR |
| Q8K1R3 | Pnpt1 | Polyribonucleotide nucleotidyltransferase 1, mitochondrial | Mus musculus (Mouse) | PR |
| Q6KAI0 | PNP2 | Polyribonucleotide nucleotidyltransferase 2, mitochondrial | Oryza sativa subsp japonica (Rice) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAACRYCCSC | LRLRPLSDGP | FLLPRRDRAL | TQLQVRALWS | SAGSRAVAVD | LGNRKLEISS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GKLARFADGS | AVVQSGDTAV | MVTAVSKTKP | SPSQFMPLVV | DYRQKAAAAG | RIPTNYLRRE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IGTSDKEILT | SRIIDRSIRP | LFPAGYFYDT | QVLCNLLAVD | GVNEPDVLAI | NGASVALSLS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DIPWNGPVGA | VRIGIIDGEY | VVNPTRKEMS | SSTLNLVVAG | APKSQIVMLE | ASAENILQQD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FCHAIKVGVK | YTQQIIQGIQ | QLVKETGVTK | RTPQKLFTPS | PEIVKYTHKL | AMERLYAVFT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DYEHDKVSRD | EAVNKIRLDT | EEQLKEKFPE | ADPYEIIESF | NVVAKEVFRS | IVLNEYKRCD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GRDLTSLRNV | SCEVDMFKTL | HGSALFQRGQ | TQVLCTVTFD | SLESGIKSDQ | VITAINGIKD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KNFMLHYEFP | PYATNEIGKV | TGLNRRELGH | GALAEKALYP | VIPRDFPFTI | RVTSEVLESN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GSSSMASACG | GSLALMDSGV | PISSAVAGVA | IGLVTKTDPE | KGEIEDYRLL | TDILGIEDYN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GDMDFKIAGT | NKGITALQAD | IKLPGIPIKI | VMEAIQQASV | AKKEILQIMN | KTISKPRASR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KENGPVVETV | QVPLSKRAKF | VGPGGYNLKK | LQAETGVTIS | QVDEETFSVF | APTPSAMHEA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RDFITEICKD | DQEQQLEFGA | VYTATITEIR | DTGVMVKLYP | NMTAVLLHNT | QLDQRKIKHP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TALGLEVGQE | IQVKYFGRDP | ADGRMRLSRK | VLQSPATTVV | RTLNDRSSIV | MGEPISQSSS |
| NSQ |