Q9UKX2
SS
Gene name |
MYH2 (MYHSA2) |
Protein name |
Myosin-2 |
Names |
Myosin heavy chain 2 , Myosin heavy chain 2a , MyHC-2a , Myosin heavy chain IIa , MyHC-IIa , Myosin heavy chain, skeletal muscle, adult 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4620 |
EC number |
|
Protein Class |
|
Descriptions
Myosin-7 (MYH7, also named Myosin heavy chain, cardiac muscle β isoform) is an actin-based motor molecule with ATPase activity essential for muscle contraction. Several mutations in MYH7 are frequent causes of hypertrophic cardiomyopathy (HCM), a disease characterized by hypercontractility and eventual hypertrophy of the left ventricle. Many HCM-causing mutations appear to reduce myosin's ability to form an autoinhibited state. In an autoinhibited state, the myosin heads fold back onto their own subfragment 2 (S2) tail in a conformation known as the interacting heads motif (IHM). One of the two heads in the dimer has its actin-binding interface buried in the folded structure; this head is referred to as the blocked head, while the other is called the free head, since its actin-binding interface is not hidden structurally. Many myosin types have the folded back IHM structure. The IHM structure correlates to an ultra-low basal ATPase rate in the absence of an action called the 'super relaxed state'. Heads lacking the S2 tail mostly have a faster basal ATPase rate referred to as the 'disordered relaxed state'. Especially, mutations in the myosin lever arm or the pliant region of the lever arm can affect myosin function either by altering its intrinsic motor activity, and/or reducing its ability to form the autoinhibited state.
Autoinhibitory domains (AIDs)
Target domain |
80-785 (Myosin head, motor domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9UKX2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UKX2-F1 | Predicted | AlphaFoldDB |
2157 variants for Q9UKX2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA8391747 rs770499680 RCV000951690 RCV000412768 |
14 | A>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs769712128 RCV002035416 |
18 | R>* | Variant assessed as Somatic; HIGH impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8391739 rs141174023 RCV000364770 |
24 | R>L | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001351003 RCV003284246 rs372837852 |
25 | I>T | Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1273237983 RCV001359301 |
38 | V>I | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002056548 rs765877777 CA8391730 RCV000273767 |
41 | A>V | Variant assessed as Somatic; MODERATE impact. Inclusion Body Myopathy, Dominant Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs769767111 RCV001063791 |
44 | K>E | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2073654641 RCV001117584 COSM3969810 |
44 | K>N | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
RCV001366566 RCV002282531 rs145979297 |
61 | T>M | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs767472238 CA8391714 RCV000544138 |
65 | E>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000641871 CA8391693 rs145472283 |
71 | T>I | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs764144162 RCV001936522 |
80 | M>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1567738501 RCV000698236 |
86 | D>N | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs759350345 RCV001295505 |
89 | E>K | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000315091 RCV003422281 CA10638881 rs886052573 RCV001116149 |
101 | A>P | Inclusion Body Myopathy, Dominant Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597459444 RCV000799392 |
108 | E>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM4063879 RCV000497738 CA398172402 rs1468175087 RCV001342457 |
109 | R>H | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs140468333 RCV000594531 CA8391679 RCV001088255 |
111 | A>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs781687668 RCV001317762 |
115 | I>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000259412 RCV002522044 rs886044672 CA10607043 |
125 | T>P | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2142321785 RCV001883174 |
128 | P>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs766305131 RCV001238475 |
142 | A>G | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1709890 rs773318939 RCV001895342 |
144 | R>Q | skin Myopathy, proximal, and ophthalmoplegia [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001981215 rs780719632 |
158 | I>M | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000299993 rs886052572 CA10649462 RCV001121057 |
165 | F>L | Inclusion Body Myopathy, Dominant Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001949286 rs750232956 |
170 | R>* | Variant assessed as Somatic; HIGH impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000524924 CA8391609 rs778801023 |
170 | R>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000162324 rs756953958 CA186126 COSM4141978 |
178 | T>I | ovary Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001238199 rs2073593497 |
181 | S>P | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001992003 rs770369215 |
191 | R>C | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs778659452 RCV001882072 |
191 | R>H | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002046910 rs1266665896 |
204 | E>D | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs373306322 RCV001322067 |
207 | K>M | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002002348 COSM975372 rs1250462450 |
209 | E>* | Variant assessed as Somatic; HIGH impact. large_intestine endometrium Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1204821136 RCV001121055 |
217 | G>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1389727909 RCV001312851 |
228 | P>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs367639163 RCV001360613 |
228 | P>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001313691 rs1567736673 |
234 | G>D | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000162323 rs147708782 CA186124 |
236 | A>T | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201044964 RCV000703549 |
244 | S>F | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM4063875 rs773713563 RCV001923690 |
246 | R>H | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2073579202 RCV001321743 |
254 | H>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs776266174 RCV003307548 RCV000820291 |
258 | T>A | Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1597457334 RCV000813091 |
261 | L>P | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001204341 rs2073578403 |
266 | I>M | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001057084 rs2073575845 |
272 | E>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002543093 rs774544504 RCV001751580 RCV001301827 |
293 | T>I | Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2073575109 RCV001921114 COSM1709888 |
294 | S>L | kidney skin Myopathy, proximal, and ophthalmoplegia [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001979467 rs201854230 |
299 | E>D | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2073541339 RCV001221987 |
308 | T>M | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1567735281 RCV000706406 |
317 | S>I | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001991260 rs2142314883 COSM3889262 |
319 | G>E | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
rs200893594 RCV000700384 |
327 | D>N | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000702827 rs1023760701 |
329 | Q>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs753710050 RCV002025828 |
342 | L>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001049681 rs748792149 |
349 | K>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001906267 rs201434968 |
360 | M>L | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes TOPMed dbSNP |
|
RCV001063667 rs139478967 |
361 | H>L | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000793224 rs752699239 |
361 | H>N | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs527337606 COSM266981 RCV000415310 CA8391432 |
387 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002464358 rs139212712 RCV001038585 |
392 | S>G | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000801594 rs146229690 |
410 | G>S | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2073524537 RCV001202039 |
414 | V>A | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs201775814 RCV002195127 |
417 | G>A | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001038972 rs148270782 |
417 | G>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001343261 COSM5923224 rs1433670000 |
423 | V>M | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs151000841 RCV000699418 |
425 | N>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001062547 COSM180608 rs143204063 |
434 | V>I | Variant assessed as Somatic; MODERATE impact. large_intestine Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM3513983 rs756281353 RCV001214397 RCV003405400 |
436 | E>K | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001891154 rs2142313163 |
437 | K>N | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001207984 rs2073521807 |
439 | F>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001052770 rs752702044 COSM1216207 |
445 | R>C | large_intestine Myopathy, proximal, and ophthalmoplegia [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201040489 COSM71742 RCV001035054 |
445 | R>H | ovary biliary_tract large_intestine central_nervous_system breast Myopathy, proximal, and ophthalmoplegia [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000481860 rs201040489 CA16620326 RCV000815881 |
445 | R>L | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002028878 rs138998538 |
453 | K>N | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA398158933 rs1555571482 RCV000544916 |
453 | K>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1238892450 CA398158722 COSM3937245 RCV000641877 |
461 | G>R | oesophagus Myopathy, proximal, and ophthalmoplegia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV002029225 rs2142313049 |
462 | V>A | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001902098 rs2142311275 |
481 | I>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs886052570 RCV000381998 CA10648533 |
482 | N>H | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886052570 RCV001318289 |
482 | N>Y | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003169720 RCV001349362 rs1567733956 |
498 | V>A | Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001062910 rs374726398 |
498 | V>M | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs865974946 RCV000704936 |
503 | E>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs772963819 RCV001045437 |
510 | E>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000819364 RCV002307628 rs376478405 COSM2925401 |
512 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM5009286 rs372386851 RCV001726480 RCV001300258 |
515 | D>N | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs894307740 RCV001362822 |
516 | F>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2142311074 RCV001914928 COSM5851801 |
525 | E>K | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
|
RCV000327358 rs886052569 RCV001117491 CA10638872 |
548 | D>E | Inclusion Body Myopathy, Dominant Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1160867842 RCV001372305 |
549 | T>N | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001937853 rs2073495820 |
550 | S>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001338243 rs2073495432 |
558 | Q>L | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001945114 rs771444036 |
565 | N>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002013420 rs1567733741 |
569 | P>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA8391307 RCV003765865 RCV002521081 rs778226679 RCV000291044 |
571 | V>M | Inclusion Body Myopathy, Dominant Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2073494828 RCV001218727 |
574 | G>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs564509544 RCV003442933 RCV001878880 |
577 | E>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2073494382 RCV001058395 |
579 | H>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs757972369 RCV001872670 |
581 | A>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs753668463 RCV001874945 RCV002551676 |
588 | V>A | Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs763994556 RCV000803425 |
592 | N>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000690809 CA398155188 rs1555571267 RCV000596856 |
598 | E>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000529086 rs778516827 CA8391283 |
627 | A>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs770538729 RCV001928542 |
634 | G>A | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2073484495 RCV001116041 |
638 | G>E | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001563619 rs2142309612 |
642 | G>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002017876 rs781153789 |
643 | G>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2142309594 RCV001917920 |
646 | K>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000558800 rs1452856320 CA398152347 |
653 | V>A | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs750604697 CA8391237 RCV000641875 |
667 | N>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003278966 RCV000641884 rs1555571125 CA398151790 |
674 | H>Y | Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001289031 RCV003132376 rs761148856 |
682 | N>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767880435 RCV000816432 |
686 | T>N | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001229431 rs2073469870 |
687 | P>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001892967 rs375334939 |
690 | M>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs972757672 COSM1709885 RCV001299563 |
691 | E>K | skin Myopathy, proximal, and ophthalmoplegia [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV001311870 RCV001871782 rs1426839625 |
693 | E>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs753195074 RCV002040429 |
697 | H>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs142443410 RCV001893384 |
698 | Q>E | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002035116 rs1259249860 |
701 | C>F | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV003225222 rs2142307936 RCV002211388 |
703 | G>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA123753 VAR_032630 rs121434589 RCV000015199 |
706 | E>K | Myopathy, proximal, and ophthalmoplegia CMYP6 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs761461325 COSM84376 RCV001120966 |
709 | R>C | Variant assessed as Somatic; MODERATE impact. pancreas Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000799948 rs369618095 COSM4063870 |
709 | R>H | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2073467818 RCV001315857 |
718 | R>I | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001953696 rs1027921042 |
725 | K>* | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002010019 rs773415186 |
742 | I>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1167250510 RCV001270738 RCV001751540 |
755 | I>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
CA8391175 RCV000543100 rs202198533 COSM472284 |
756 | D>N | kidney Myopathy, proximal, and ophthalmoplegia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs117390537 RCV002509356 RCV000658771 CA8391174 RCV000558060 |
757 | I>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002042686 rs758731503 |
758 | D>A | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1358118988 RCV001929727 |
768 | K>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs751563313 RCV001247359 RCV002570353 |
778 | L>F | Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2142305497 RCV001919624 |
782 | M>I | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM6080108 CA186120 rs762121316 COSM559836 RCV000162319 |
783 | R>* | lung Variant assessed as Somatic; HIGH impact. Myopathy, proximal, and ophthalmoplegia [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1392938142 RCV001946128 |
785 | D>E | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001893891 rs2142305450 |
789 | Q>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs545623839 RCV001813802 RCV000766225 |
793 | R>* | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000521318 CA8391143 COSM3513967 rs578188627 RCV001851482 |
793 | R>Q | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs771139007 RCV001216384 |
797 | R>M | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001035426 rs374943306 RCV002552089 |
797 | R>S | Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000316767 RCV001036128 CA8391137 rs754150715 |
799 | R>T | Inclusion Body Myopathy, Dominant Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1270329583 RCV001917573 |
800 | G>A | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs879255254 RCV000162322 CA10575690 |
801 | F>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV000162321 rs758395765 CA186122 |
802 | L>* | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000455902 RCV000490432 RCV001723786 rs200662973 CA8391132 |
805 | V>A | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1597452607 RCV000821474 |
812 | E>G | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001231702 rs2073428547 |
820 | I>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2142303605 RCV001385652 |
821 | Q>* | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2073428486 RCV001980688 |
823 | N>D | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs1378547305 RCV002284465 RCV001117382 |
823 | N>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001350478 rs915946647 |
834 | P>L | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001930065 rs1242325182 |
840 | F>L | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2142303448 RCV002028255 |
843 | K>N | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001320260 rs1328752239 |
844 | P>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001313655 RCV003263943 rs374630865 RCV003490182 |
849 | A>V | Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000641868 RCV000176320 CA242220 rs184494954 |
855 | M>I | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs267604724 RCV001896318 COSM975360 |
868 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000709832 rs1567731278 RCV001063613 |
870 | A>V | Myopathy, proximal, and ophthalmoplegia MYH2-related myopathy [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002021794 rs770099846 |
873 | E>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
CA8391100 RCV003362757 RCV000261499 RCV003327394 RCV000689879 rs201784718 |
876 | R>G | Inclusion Body Myopathy, Dominant Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001986059 rs757290160 |
878 | E>D | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002281086 RCV000356085 CA8391090 COSM84375 RCV000799816 rs150566222 |
885 | T>M | pancreas Inclusion Body Myopathy, Dominant Myopathy, proximal, and ophthalmoplegia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs763860580 RCV000706098 |
891 | N>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001906552 rs763476894 |
891 | N>D | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2142301095 RCV002012008 |
902 | E>G | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs781514305 RCV001974182 COSM975358 |
902 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs755189388 RCV001362587 |
903 | G>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8391068 rs780124402 RCV000405820 RCV000579374 |
909 | E>* | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001247377 TCGA novel rs2073406829 |
910 | R>M | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1555570593 CA398142732 RCV000550337 |
929 | T>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1335748239 RCV000641881 CA398142678 |
930 | E>G | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001359743 rs201945489 |
934 | D>N | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000989751 rs1373237213 |
936 | E>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs138206136 CA8391059 RCV000528898 RCV001562589 |
941 | E>D | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002047536 rs2142300910 |
944 | A>D | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs762535527 RCV001210099 |
947 | R>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs143872329 RCV000176415 CA201931 VAR_032631 RCV000585066 RCV000989750 |
970 | V>I | Myopathy, proximal, and ophthalmoplegia one patient with familial myopathy; uncertain significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001906663 rs1386070071 |
972 | K>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs754311300 RCV002032161 |
975 | H>Y | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2073403461 RCV001364885 |
980 | K>N | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001064573 rs2073401948 |
983 | N>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs749824406 RCV001225666 |
988 | M>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000819984 rs1597451166 |
990 | G>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001888369 rs201793838 |
996 | A>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs767951536 RCV001531257 RCV003413634 RCV000813184 |
999 | T>N | MYH2-related condition Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs912210806 RCV001976289 |
1000 | K>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs797045096 CA210637 RCV000190605 |
1001 | E>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
rs1324293373 RCV001306647 |
1002 | K>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1567730339 RCV000701025 |
1005 | L>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1226690028 RCV001784688 |
1007 | E>* | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs761382091 RCV001300877 |
1009 | H>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs148961199 RCV001508441 RCV000686223 |
1010 | Q>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001994121 rs771807032 |
1016 | L>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001298219 rs150248342 |
1020 | E>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201925793 CA8391012 RCV002526140 RCV000553247 |
1023 | V>L | Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201592726 RCV000686096 |
1033 | L>I | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001894109 rs2073398000 |
1042 | G>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001084444 RCV000176578 RCV001818425 rs11658164 CA242563 |
1043 | S>A | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200217946 RCV002056547 RCV000405248 CA8390996 |
1043 | S>F | Inclusion Body Myopathy, Dominant Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001294261 rs2073397644 |
1047 | E>G | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1027280616 RCV001882946 COSM167778 |
1051 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001919818 rs781763749 |
1054 | L>P | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_032632 RCV000176577 CA202011 rs142586585 RCV000989749 RCV000641896 |
1061 | L>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001233958 rs2073396657 |
1068 | A>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2142299866 RCV001906229 |
1069 | Q>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003442964 RCV001949970 rs2142299853 |
1071 | S>F | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2073396485 RCV001308005 |
1072 | I>L | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1335497096 RCV001959880 |
1073 | M>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002552254 RCV001880966 rs2142299795 |
1084 | E>K | Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001238885 rs2073393915 |
1097 | Q>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001117262 CA8390946 RCV000392688 rs769463886 |
1100 | I>T | Inclusion Body Myopathy, Dominant Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000552180 rs139295564 RCV001557701 CA8390945 |
1103 | E>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs758264018 RCV002263776 RCV000545497 CA8390941 |
1111 | Q>* | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs150830535 RCV001058333 |
1112 | K>E | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs575266045 CA287738810 RCV003362872 RCV000641879 |
1118 | Q>P | Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV000641873 CA8390917 rs756255059 RCV000347813 |
1120 | R>C | Inclusion Body Myopathy, Dominant Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003514504 rs767581337 RCV001508440 |
1121 | I>L | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2073391277 RCV001117260 |
1123 | E>D | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003416600 COSM3513946 RCV001948102 rs778993350 |
1132 | R>Q | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001043796 rs200134368 |
1135 | R>W | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001054635 COSM1662953 rs752906702 |
1142 | R>C | kidney Myopathy, proximal, and ophthalmoplegia [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003148838 RCV000706632 rs781136210 |
1142 | R>H | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001899297 rs2073390411 |
1144 | D>H | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs760262646 RCV001303305 |
1147 | R>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs376357016 RCV000754718 |
1154 | E>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001321129 rs2073388994 |
1166 | Q>H | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003133206 RCV000317340 CA10605742 COSM3691360 rs886043621 RCV002519285 |
1173 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003294229 RCV001304298 rs765925366 |
1180 | M>T | Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM975349 rs201768483 RCV000992409 RCV001212920 |
1181 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002037231 COSM1324181 rs773196254 |
1181 | R>H | ovary Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001349118 rs2073387879 |
1188 | T>N | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs747186072 RCV000534190 CA8390864 |
1191 | H>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA287738631 rs938797010 RCV000641869 |
1191 | H>Y | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM4404718 rs780122233 RCV002030788 RCV002548961 |
1192 | E>K | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs373108053 RCV001066640 |
1195 | A>E | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs373108053 RCV001061674 |
1195 | A>V | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002016274 rs2142298788 |
1196 | A>G | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs974071552 RCV000850081 |
1200 | K>N | Muscular dystrophy [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs764501722 RCV000802623 |
1202 | H>Y | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001056788 rs2073386786 |
1204 | D>G | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs546948489 RCV001217507 |
1208 | E>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000686147 CA398132842 rs1456213666 RCV000520149 |
1212 | Q>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1597450495 RCV000800568 |
1214 | D>N | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM3513940 rs1187271694 RCV000806758 |
1218 | R>* | Variant assessed as Somatic; HIGH impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP gnomAD |
|
RCV001295106 rs139755852 |
1218 | R>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001354471 RCV003294035 rs147439455 RCV001215113 |
1228 | S>N | Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs143809867 RCV001318357 |
1234 | I>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000522631 CA8390837 rs138265883 RCV000698953 RCV002521080 RCV000352017 |
1237 | L>F | Inclusion Body Myopathy, Dominant Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs779830887 RCV001236907 |
1240 | N>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001238837 rs2073384756 |
1241 | V>I | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM1737404 RCV002272328 RCV000686022 rs150829316 |
1243 | T>M | central_nervous_system Myopathy, proximal, and ophthalmoplegia [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001238461 rs2073384604 |
1247 | A>G | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1366353041 RCV001969142 |
1250 | N>D | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001897025 rs774428848 |
1251 | L>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001882016 rs2142297044 |
1253 | K>* | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs141448415 RCV001861687 RCV000657939 |
1256 | R>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001260520 rs2073373034 |
1257 | T>missing | Myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1178928941 RCV001370772 |
1262 | L>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001979470 rs201489001 |
1269 | E>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8390797 rs756811670 RCV000641878 |
1274 | R>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000641872 rs191102801 CA8390798 RCV003227815 RCV002533262 |
1274 | R>W | Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001940612 rs905151466 |
1278 | D>N | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA10644814 rs886052564 RCV000278363 |
1280 | T>I | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001330752 RCV002292630 rs756055649 |
1281 | A>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs2073371857 RCV001052321 |
1283 | R>M | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000791848 RCV001759489 COSM5702759 rs148326504 RCV003353023 |
1285 | R>H | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000818770 rs374494789 |
1285 | R>S | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM559846 COSM6080118 rs747924610 RCV000696724 |
1291 | G>V | lung Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [Cosmic, NCI-TCGA, ClinVar] | Yes |
cosmic curated NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001925195 rs370424529 |
1295 | R>C | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000815256 RCV001508439 COSM1380813 rs143341678 |
1295 | R>H | large_intestine Myopathy, proximal, and ophthalmoplegia [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003246773 RCV001311869 RCV001224617 rs777266089 |
1297 | L>V | Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1046313955 RCV002037342 |
1298 | D>N | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs766227489 RCV001935879 |
1314 | F>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs554431336 RCV001299870 |
1316 | Q>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1380534578 RCV002019795 |
1317 | Q>P | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002032040 rs2142295860 |
1327 | E>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs779257410 RCV000559376 CA8390749 |
1334 | A>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001947705 rs779257410 COSM3969806 |
1334 | A>T | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs138470281 RCV000950987 |
1336 | A>E | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000372759 CA8390748 RCV001035643 rs138470281 |
1336 | A>V | Variant assessed as Somatic; MODERATE impact. Inclusion Body Myopathy, Dominant Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000690340 rs996870471 |
1337 | H>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs554321580 RCV002049555 |
1341 | S>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001051954 rs145911509 |
1343 | R>G | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs145438977 RCV001916990 |
1350 | R>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs776018379 COSM3402595 RCV000799066 |
1350 | R>W | Variant assessed as Somatic; MODERATE impact. central_nervous_system Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000795678 rs772043473 |
1362 | E>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000805459 rs745629813 |
1365 | R>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000791966 rs754037459 |
1368 | S>F | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003269096 RCV002023002 rs374190003 |
1373 | E>K | Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC dbSNP gnomAD |
|
rs2073357858 RCV002009516 COSM3513929 |
1382 | E>K | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar TOPMed dbSNP gnomAD |
|
rs1406857706 RCV001317419 |
1385 | A>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs140775405 RCV000819258 RCV003258995 |
1388 | R>C | Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs745754711 RCV001058698 COSM71741 |
1388 | R>H | kidney ovary Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs770023922 RCV001071614 |
1400 | A>V | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002537415 rs781252325 RCV000817091 |
1402 | R>Q | Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000641883 RCV002261150 rs199632177 CA8390689 |
1405 | A>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003128777 RCV001302327 rs780588979 COSM5930344 |
1408 | E>K | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000641870 rs146615128 CA8390685 |
1414 | N>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001234354 rs755848527 |
1415 | A>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000815371 rs752335450 |
1418 | A>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8390681 rs187438258 RCV002225653 RCV000548198 |
1420 | L>F | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001531256 rs368304404 RCV000705816 COSM1286426 |
1421 | E>K | NS Variant assessed as Somatic; MODERATE impact. autonomic_ganglia Myopathy, proximal, and ophthalmoplegia [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs773071482 RCV001320705 COSM4998173 |
1426 | R>W | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs776820408 RCV002044147 |
1431 | V>I | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM4844650 RCV000690944 rs747081221 |
1432 | E>K | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001593103 RCV000875682 rs139691540 |
1435 | M>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM4063866 CA8390662 rs142908651 RCV000641874 |
1444 | A>T | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000693096 rs1567728069 |
1446 | A>G | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001388271 rs757195322 |
1451 | K>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001961521 rs371923594 |
1454 | N>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002018062 rs761573741 COSM975345 |
1456 | D>N | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000694243 rs776886264 |
1457 | K>E | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765135888 RCV000641882 CA8390637 |
1459 | L>P | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001660544 rs148693677 RCV000392317 CA8390636 RCV000874707 |
1460 | A>G | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM4971308 rs760961929 RCV001064879 |
1469 | T>M | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001760781 rs938120515 RCV003629197 |
1475 | A>D | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2073340697 RCV001233149 |
1480 | A>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1303566428 RCV001212016 |
1480 | A>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002555898 rs990939157 RCV001070749 |
1481 | R>C | Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs199751037 RCV000794881 RCV002535913 |
1481 | R>H | Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1034624770 RCV001037502 |
1493 | A>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2142293598 RCV001380185 |
1504 | L>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001878375 rs1049022189 |
1506 | R>P | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000816687 rs1049022189 COSM162717 |
1506 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine central_nervous_system breast Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002019860 rs753714787 |
1507 | E>D | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001214229 rs764004345 |
1508 | N>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001922594 rs1165680648 |
1510 | N>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000699353 RCV003403624 rs929311433 COSM975343 |
1513 | Q>* | Variant assessed as Somatic; HIGH impact. large_intestine endometrium MYH2-related condition Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs778405343 RCV000641880 CA8390597 |
1516 | S>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs138796340 COSM4063864 RCV000705634 |
1519 | T>M | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs774357063 RCV001953008 |
1524 | E>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003479355 rs1243834294 RCV002046933 |
1524 | E>D | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs910402127 RCV001980999 |
1525 | G>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001985512 rs2142293289 |
1527 | K>N | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs377584935 RCV001886006 |
1528 | R>C | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001508438 rs142934668 RCV000536915 CA8390586 |
1528 | R>H | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2073336915 RCV001210619 |
1529 | I>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001314351 rs2073336612 |
1535 | I>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002050016 rs2142293220 |
1539 | V>G | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs776862337 RCV001225996 |
1543 | K>N | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001936203 rs947669039 |
1548 | A>P | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1597448095 RCV000805466 |
1559 | H>Y | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1555569889 RCV000641885 CA398124134 |
1562 | G>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2073333613 RCV001066476 |
1564 | I>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs529367667 COSM3402593 RCV001417940 |
1566 | R>C | central_nervous_system Myopathy, proximal, and ophthalmoplegia [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001590957 RCV000266357 RCV001222151 CA8390570 RCV003243076 rs200732220 |
1566 | R>H | Inclusion Body Myopathy, Dominant Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs113713308 RCV000810212 |
1575 | K>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001938989 rs2142292793 |
1580 | R>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs138393827 RCV000525717 RCV001706354 CA8390562 RCV000246896 |
1592 | L>M | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs774036368 RCV001350120 |
1600 | V>M | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001879328 rs772613828 |
1604 | Q>* | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV002537476 RCV000820756 rs768621451 |
1606 | T>M | Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2142292645 RCV001986770 |
1610 | E>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001921403 rs2073330917 |
1615 | N>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001924912 rs2142292545 |
1628 | L>F | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM1380807 rs375371672 RCV001045619 |
1640 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1380806 rs772914345 RCV001977770 |
1640 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001039047 rs1126556 |
1654 | G>A | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs369083161 RCV001052192 COSM3513910 |
1656 | L>F | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001358868 CA398120061 RCV000513554 rs773964603 |
1666 | A>G | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001223297 CA8390510 RCV000596754 rs143022667 |
1668 | R>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM2925269 rs569489518 RCV001065168 |
1668 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine central_nervous_system Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM3421280 rs1204274669 RCV002001863 |
1672 | D>N | Variant assessed as Somatic; MODERATE impact. large_intestine Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000361428 RCV001373376 rs374743981 CA8390508 |
1675 | E>D | Inclusion Body Myopathy, Dominant Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001895777 rs2073325642 |
1677 | L>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002469382 rs144934663 RCV001370587 |
1681 | E>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003166502 COSM975337 RCV002511063 rs145099248 RCV001240805 |
1682 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001308148 rs2073324867 |
1691 | I>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001208292 rs1050339515 RCV002561676 |
1696 | A>D | Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001236058 rs1321342402 RCV002246227 |
1699 | E>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs769912069 RCV002049186 |
1702 | E>G | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
COSM2151869 RCV000513939 CA8390487 RCV000764101 rs147813930 |
1708 | A>T | central_nervous_system Myopathy, proximal, and ophthalmoplegia [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2142291882 RCV002032652 RCV001663612 |
1710 | Q>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001256202 rs1479754797 |
1717 | E>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs755776701 RCV001326862 RCV003399111 |
1718 | R>H | Variant assessed as Somatic; MODERATE impact. MYH2-related condition Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002049994 rs1161860650 |
1718 | R>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs202050465 RCV002536348 RCV000701855 |
1724 | T>I | Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001214523 RCV003117849 rs202050465 |
1724 | T>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001915625 rs2073322886 |
1725 | Q>E | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001300625 rs750223323 |
1727 | T>I | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001877567 rs750223323 |
1727 | T>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001253030 rs776712165 |
1731 | N>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs760648896 RCV001957512 |
1737 | E>A | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1050104425 RCV001362970 |
1744 | Q>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs2073314725 RCV001913971 |
1754 | A>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001879165 rs747877150 |
1754 | A>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs202006788 RCV000498182 RCV001248535 RCV002524103 CA8390447 |
1755 | R>C | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs144414607 RCV001296223 |
1755 | R>H | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001063387 RCV000190806 CA204894 RCV003233494 rs377385495 |
1761 | A>V | Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8390441 RCV000364965 RCV001118715 rs139621607 |
1765 | I>N | Inclusion Body Myopathy, Dominant Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs151021565 RCV001213022 |
1768 | A>G | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1380804 RCV000804947 rs550869991 |
1769 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001207727 rs2073312358 |
1771 | M>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001225667 rs753602134 |
1775 | L>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1178820376 RCV001997365 |
1782 | S>N | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000813913 COSM313025 RCV002538179 rs759668950 |
1783 | A>T | lung Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs770182875 RCV001062956 COSM3513903 |
1787 | R>Q | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs572874607 RCV001207983 |
1788 | M>V | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2142290581 RCV001368391 |
1791 | N>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003279063 rs912089271 RCV000792572 |
1793 | E>A | Inborn genetic diseases Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000690471 rs1567726803 |
1794 | Q>H | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002022936 COSM1709877 rs778350338 |
1796 | V>M | Variant assessed as Somatic; MODERATE impact. skin Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000811525 RCV002538101 rs746710734 |
1802 | R>C | Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
COSM1380803 RCV001351119 rs777282924 RCV003263995 |
1802 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001212689 rs2073310003 |
1821 | L>P | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs766875105 RCV000800028 |
1826 | R>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001771036 RCV002538803 rs755265718 RCV002544016 |
1826 | R>W | Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000539643 CA398115339 rs1462537897 |
1832 | V>I | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001260519 rs1297291974 |
1838 | R>missing | Myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368695212 RCV001917764 |
1838 | R>C | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001325254 rs2073307748 |
1840 | A>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs774045866 RCV002563472 RCV001987838 COSM975333 |
1847 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000819491 COSM2925249 rs748605415 |
1847 | R>H | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000554670 CA398114891 rs1555569647 |
1849 | H>Y | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001061941 rs769778269 |
1852 | R>L | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200726747 CA287734691 RCV000532967 |
1855 | E>G | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1488236141 RCV003128688 RCV000692824 |
1856 | L>F | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
CA398114418 RCV000538870 rs148724880 |
1860 | T>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1567726515 RCV001051710 RCV001545332 |
1865 | K>missing | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs370387304 RCV001881088 |
1869 | R>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
CA186118 RCV000162317 rs786201023 |
1870 | L>P | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001733833 rs2142289928 |
1877 | L>P | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs775106499 RCV001055807 RCV003413870 RCV002264168 |
1881 | V>M | MYH2-related condition Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746016363 RCV000686971 |
1883 | S>A | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746016363 RCV001872923 |
1883 | S>P | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001895089 rs1480289239 |
1897 | T>S | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
COSM975330 RCV002284509 rs777766586 RCV002043672 |
1903 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002038407 COSM2925241 rs770302436 |
1903 | R>H | Variant assessed as Somatic; MODERATE impact. Myopathy, proximal, and ophthalmoplegia [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001954533 rs1350545511 RCV003236907 |
1913 | E>K | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs201882457 RCV000801539 RCV002521079 RCV003418013 CA8390316 |
1915 | R>Q | Myopathy, proximal, and ophthalmoplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001046420 rs745584391 COSM1258443 |
1915 | R>W | oesophagus Myopathy, proximal, and ophthalmoplegia [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1464949119 RCV001362794 |
1919 | A>T | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001045065 rs1350620712 |
1922 | Q>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002038303 rs756130400 |
1926 | L>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000421447 VAR_032633 CA202886 RCV001082289 RCV000178445 rs34161789 |
1927 | R>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1197611302 RCV001226894 |
1929 | K>R | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs763107075 RCV001933396 |
1931 | R>Q | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001847388 rs544066673 RCV003514533 |
1931 | R>W | Myopathy, proximal, and ophthalmoplegia [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| COSM3514000 | 1 | M>? | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1004770990 | 2 | S>I | No | Ensembl | |
| rs1004770990 | 2 | S>N | No | Ensembl | |
| rs2073656322 | 4 | D>E | No | TOPMed | |
| rs1248954420 | 4 | D>V | No | gnomAD | |
| rs767327447 | 6 | E>D | No |
ExAC TOPMed gnomAD |
|
| COSM5606776 | 6 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1320979429 | 8 | A>G | No | gnomAD | |
| COSM975376 | 8 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs759237574 | 9 | V>G | No |
ExAC gnomAD |
|
| rs2073656112 | 9 | V>I | No |
TOPMed gnomAD |
|
| rs770499680 | 14 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs748691959 | 15 | P>T | No |
ExAC gnomAD |
|
| rs773202566 | 16 | F>L | No | ExAC | |
| rs1360355281 | 17 | L>F | No | gnomAD | |
| rs747990808 | 18 | R>P | No |
ExAC TOPMed gnomAD |
|
|
COSM1216196 rs747990808 |
18 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs780938885 | 21 | E>D | No |
ExAC gnomAD |
|
|
COSM1380827 rs150705907 |
24 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs141174023 | 24 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs2073655506 | 25 | I>V | No | Ensembl | |
| TCGA novel | 28 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 28 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765902935 | 29 | N>S | No |
ExAC gnomAD |
|
| rs2073655335 | 30 | R>K | No | TOPMed | |
| rs367640819 | 31 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs367640819 | 31 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| COSM1286424 | 34 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs774068547 CA8391731 RCV000484036 |
35 | K>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1289552065 | 35 | K>R | No | gnomAD | |
| rs1042853318 | 39 | F>S | No | Ensembl | |
| TCGA novel | 40 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765877777 | 41 | A>E | No |
ExAC gnomAD |
|
|
rs2142325523 RCV001763178 |
41 | A>T | No |
ClinVar Ensembl dbSNP |
|
| rs772580724 | 43 | P>A | No |
ExAC gnomAD |
|
| rs1387778291 | 43 | P>L | No | gnomAD | |
| rs1597459601 | 44 | K>T | No | Ensembl | |
|
COSM975375 rs2073654602 |
45 | E>* | Variant assessed as Somatic; HIGH impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs2142325495 | 45 | E>G | No | Ensembl | |
| COSM276210 | 45 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2142325476 | 48 | V>D | No | Ensembl | |
| COSM6080094 | 48 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs748045944 | 50 | G>R | No |
ExAC gnomAD |
|
|
RCV001761197 rs190103324 |
51 | T>A | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs746721924 | 52 | I>N | No | ExAC | |
| rs2073654124 | 55 | R>K | No | Ensembl | |
| rs2073654124 | 55 | R>T | No | Ensembl | |
| rs746010841 | 58 | G>A | No |
ExAC TOPMed gnomAD |
|
|
rs746010841 COSM232836 |
58 | G>E | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD |
| rs145979297 | 61 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs137996115 | 62 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs756508484 | 64 | T>S | No |
ExAC gnomAD |
|
| rs767472238 | 65 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1278229826 | 66 | G>R | No |
TOPMed gnomAD |
|
| rs534448595 | 67 | G>E | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 68 | A>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs576886464 | 68 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 69 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6080095 | 73 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073652115 | 73 | K>R | No | Ensembl | |
| rs750098425 | 74 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs761315935 | 77 | V>I | No |
ExAC gnomAD |
|
| COSM2925451 | 79 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs377247152 | 80 | M>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs764144162 | 80 | M>R | No |
ExAC TOPMed gnomAD |
|
| rs377247152 | 80 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2073651808 | 82 | P>A | No | gnomAD | |
| COSM3513999 | 82 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs148893074 | 84 | K>E | No |
ESP TOPMed |
|
| rs1310128349 | 84 | K>T | No |
TOPMed gnomAD |
|
| rs2073651612 | 86 | D>E | No | TOPMed | |
| rs1294593020 | 86 | D>G | No | Ensembl | |
| rs760499656 | 87 | K>R | No |
ExAC gnomAD |
|
| rs1452214554 | 88 | I>T | No | gnomAD | |
| COSM705064 | 89 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1597459465 | 91 | M>T | No | Ensembl | |
| rs1387610142 | 92 | A>T | No |
TOPMed gnomAD |
|
| rs1452623578 | 93 | M>L | No |
TOPMed gnomAD |
|
| rs1156771885 | 93 | M>T | No | gnomAD | |
| rs1452623578 | 93 | M>V | No |
TOPMed gnomAD |
|
| rs1221312121 | 98 | H>R | No | TOPMed | |
| rs2073651166 | 99 | E>K | No | gnomAD | |
| rs547953227 | 100 | P>A | No |
1000Genomes TOPMed gnomAD |
|
| rs547953227 | 100 | P>T | No |
1000Genomes TOPMed gnomAD |
|
| rs983899471 | 101 | A>D | No | gnomAD | |
| rs983899471 | 101 | A>V | No | gnomAD | |
|
rs1131691454 RCV000493295 CA398172516 |
102 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs202077943 | 104 | Y>H | No | Ensembl | |
| rs954643085 | 105 | N>I | No | gnomAD | |
| rs12600539 | 108 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM705065 | 108 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073650749 | 109 | R>C | No | TOPMed | |
| COSM705066 | 109 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777974735 | 110 | Y>H | No |
ExAC gnomAD |
|
| rs2073650635 | 110 | Y>S | No | gnomAD | |
| COSM3513998 | 113 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs748630746 | 113 | W>G | No |
ExAC TOPMed gnomAD |
|
| rs2073650303 | 114 | M>V | No | TOPMed | |
| rs769200700 | 117 | T>A | No |
ExAC gnomAD |
|
| rs2142321828 | 117 | T>N | No | Ensembl | |
| rs1331447582 | 120 | G>C | No | gnomAD | |
| rs747423989 | 120 | G>D | No |
ExAC gnomAD |
|
| rs758722222 | 123 | C>R | No |
ExAC gnomAD |
|
| rs2073617666 | 126 | V>F | No | gnomAD | |
|
COSM1709891 rs748961733 |
127 | N>S | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs748961733 | 127 | N>T | No |
ExAC TOPMed gnomAD |
|
| COSM3513997 | 128 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1235765813 | 131 | W>* | No | TOPMed | |
| rs1567737476 | 134 | V>A | No | Ensembl | |
| rs2073617274 | 134 | V>M | No | Ensembl | |
| rs1198582622 | 135 | Y>C | No |
TOPMed gnomAD |
|
| rs1567737474 | 135 | Y>H | No | Ensembl | |
| rs752250581 | 136 | K>Q | No |
ExAC gnomAD |
|
|
COSM1662954 rs2073617060 |
137 | P>S | kidney [Cosmic] | No |
cosmic curated Ensembl |
| rs527376269 | 138 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs767416022 COSM4894384 |
138 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1597458434 | 139 | V>G | No | Ensembl | |
| rs1381806498 | 139 | V>M | No | Ensembl | |
| rs1597458432 | 140 | V>E | No | Ensembl | |
| rs1597458432 | 140 | V>G | No | Ensembl | |
| TCGA novel | 141 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs766305131 | 142 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs868304109 | 142 | A>P | No | Ensembl | |
|
rs868304109 COSM3513996 |
142 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs762784420 | 144 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs762784420 | 144 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs761862952 | 147 | K>N | No |
ExAC gnomAD |
|
|
COSM4063877 rs183147747 |
148 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD |
| rs199911453 | 148 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs199911453 | 148 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2073616094 | 149 | Q>E | No | TOPMed | |
| rs2073616094 | 149 | Q>K | No | TOPMed | |
| rs878905575 | 151 | A>G | No | Ensembl | |
| rs891245161 | 151 | A>P | No | Ensembl | |
| rs746181156 | 154 | H>Y | No |
ExAC gnomAD |
|
| rs1465976033 | 155 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| TCGA novel | 156 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1567737386 | 156 | F>V | No | Ensembl | |
| rs141907243 | 157 | S>A | No |
1000Genomes ExAC gnomAD |
|
| rs2073615377 | 157 | S>F | No |
TOPMed gnomAD |
|
| rs747657840 | 158 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs747657840 | 158 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1479658312 | 160 | D>E | No | gnomAD | |
| rs1567737368 | 160 | D>V | No | Ensembl | |
|
rs754493970 COSM1709889 |
161 | N>S | skin [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs751560989 | 162 | A>T | No |
ExAC gnomAD |
|
| COSM417196 | 164 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4827175 | 164 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM559824 COSM6080098 rs2073614853 |
166 | M>I | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
| rs1469708918 | 166 | M>T | No | gnomAD | |
| TCGA novel | 167 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750232956 | 170 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1312486713 | 171 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| COSM705067 | 171 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073595460 | 174 | S>* | No | TOPMed | |
| rs1295825792 | 179 | G>R | No | gnomAD | |
| COSM1380826 | 180 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM975373 | 180 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073593459 | 181 | S>C | No | Ensembl | |
| rs1406051947 | 182 | G>D | No | gnomAD | |
| rs2142319692 | 183 | A>G | No | Ensembl | |
| COSM705070 | 191 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs770369215 | 191 | R>S | No |
ExAC TOPMed gnomAD |
|
| COSM6080099 | 195 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 195 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749080931 | 197 | A>S | No |
ExAC gnomAD |
|
| rs2073593013 | 199 | I>T | No | TOPMed | |
| rs2073592743 | 203 | G>S | No |
TOPMed gnomAD |
|
| rs201358302 | 203 | G>V | No | TOPMed | |
| rs1206767567 | 205 | K>N | No | gnomAD | |
| rs1299876675 | 206 | K>E | No | TOPMed | |
| rs1228345589 | 208 | E>A | No | TOPMed | |
| rs867662941 | 208 | E>K | No | Ensembl | |
| rs1250462450 | 209 | E>K | No |
TOPMed gnomAD |
|
| rs1224730298 | 213 | G>D | No | gnomAD | |
| rs2073592012 | 213 | G>R | No | gnomAD | |
| rs1211195455 | 216 | Q>P | No |
TOPMed gnomAD |
|
| rs1211195455 | 216 | Q>R | No |
TOPMed gnomAD |
|
| rs2073590583 | 217 | G>E | No |
TOPMed gnomAD |
|
| rs1204787304 | 221 | D>E | No | gnomAD | |
| rs2073590545 | 221 | D>N | No | TOPMed | |
|
COSM3513994 rs2073590435 |
222 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs2073590309 | 224 | I>V | No |
TOPMed gnomAD |
|
| rs534089498 | 225 | S>N | No |
1000Genomes ExAC gnomAD |
|
| rs2073590248 | 225 | S>R | No | TOPMed | |
| rs1031580734 | 226 | A>V | No | TOPMed | |
| rs1241748144 | 227 | N>I | No | gnomAD | |
|
rs1389727909 COSM3513993 |
228 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs367639163 | 228 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs375063863 | 230 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1403570965 | 230 | L>Q | No | gnomAD | |
| rs2073589566 | 231 | E>K | No | Ensembl | |
| rs1425040044 | 236 | A>G | No | gnomAD | |
|
RCV000488249 rs965291972 CA16621701 |
238 | T>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs775289093 COSM4063876 |
239 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1352108457 | 241 | N>K | No | gnomAD | |
|
rs759145892 COSM3513992 |
246 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| COSM3513991 | 248 | G>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1445745100 | 251 | I>L | No | TOPMed | |
| COSM3513990 | 252 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM705071 RCV001774228 rs2142318400 |
254 | H>N | lung Variant assessed as Somatic; MODERATE impact. pancreas [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
| rs1168113713 | 256 | G>S | No | gnomAD | |
| rs1201528267 | 256 | G>V | No | TOPMed | |
| rs761653072 | 257 | T>A | No |
ExAC gnomAD |
|
| rs2073578961 | 257 | T>N | No | Ensembl | |
| COSM6080100 | 257 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1597457339 | 258 | T>I | No | Ensembl | |
| rs2073578623 | 262 | A>S | No | gnomAD | |
| COSM3513989 | 263 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1351259751 | 265 | D>N | No | Ensembl | |
| TCGA novel | 266 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1817673652 | 270 | L>M | No | TOPMed | |
| rs113627589 | 274 | S>P | No | Ensembl | |
| rs1205375069 | 275 | R>G | No |
TOPMed gnomAD |
|
| rs760453643 | 276 | V>I | No |
ExAC gnomAD |
|
| TCGA novel | 281 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs200531516 | 282 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2142318111 | 284 | R>G | No | Ensembl | |
| COSM180609 | 284 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1279575134 | 286 | Y>* | No | gnomAD | |
| rs868303168 | 287 | H>Y | No | Ensembl | |
| rs745995641 | 288 | I>V | No | ExAC | |
| rs1440820907 | 290 | Y>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 290 | Y>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1338263680 | 291 | Q>* | No | gnomAD | |
| rs2073575109 | 294 | S>* | No |
1000Genomes TOPMed gnomAD |
|
| TCGA novel | 297 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073574990 | 298 | P>L | No | Ensembl | |
| COSM975370 | 299 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073574919 | 299 | E>V | No | TOPMed | |
| rs1242687090 | 303 | M>K | No | gnomAD | |
| rs1214928759 | 304 | L>V | No | gnomAD | |
|
rs1297360031 COSM1563416 |
307 | T>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1444813790 | 308 | T>A | No | gnomAD | |
| COSM1324178 | 309 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1032112208 | 311 | Y>C | No | TOPMed | |
| TCGA novel | 312 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3513986 | 312 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3370605 | 314 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM109255 rs138162020 |
314 | P>S | skin [Cosmic] | No |
cosmic curated Ensembl |
| COSM705072 | 316 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs199926461 | 316 | V>I | No |
1000Genomes gnomAD |
|
| TCGA novel | 317 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073541006 | 318 | Q>E | No | TOPMed | |
| rs1567735271 | 319 | G>R | No | Ensembl | |
| COSM6080101 | 319 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073540834 | 325 | S>R | No | TOPMed | |
| rs1325019725 | 325 | S>T | No |
TOPMed gnomAD |
|
| COSM6145576 | 327 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs773655975 | 328 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs770317855 | 329 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs770317855 | 329 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs907817512 | 332 | L>M | No |
TOPMed gnomAD |
|
| rs907817512 | 332 | L>V | No |
TOPMed gnomAD |
|
| TCGA novel | 333 | M>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1419921288 | 333 | M>I | No | gnomAD | |
| rs1430112901 | 333 | M>L | No | gnomAD | |
| rs2073540272 | 334 | A>V | No | TOPMed | |
| rs2142314791 | 335 | T>K | No | Ensembl | |
| COSM6080102 | 338 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1303315952 | 338 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1330607394 | 340 | D>N | No | gnomAD | |
| rs1356239180 | 341 | I>M | No | TOPMed | |
| COSM3818802 | 343 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM705073 | 345 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1216950122 | 346 | N>D | No |
TOPMed gnomAD |
|
| COSM705074 | 347 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1393204531 | 348 | E>Q | No | gnomAD | |
|
TCGA novel rs2073531549 |
349 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
TOPMed NCI-TCGA |
| TCGA novel | 350 | V>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs61756677 | 350 | V>G | No | Ensembl | |
| TCGA novel | 352 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM705075 | 356 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM2925420 rs144860788 |
356 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP NCI-TCGA gnomAD |
| rs2142314012 | 358 | A>G | No | Ensembl | |
| TCGA novel | 358 | A>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1407974541 | 358 | A>S | No |
TOPMed gnomAD |
|
| COSM975369 | 358 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 360 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752699239 | 361 | H>Y | No |
ExAC gnomAD |
|
| COSM1380825 | 362 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1249443422 | 365 | L>P | No | gnomAD | |
| rs763200709 | 372 | R>C | No |
ExAC gnomAD |
|
| rs763200709 | 372 | R>G | No |
ExAC gnomAD |
|
| rs750569547 | 372 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs750569547 | 372 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs763200709 | 372 | R>S | No |
ExAC gnomAD |
|
| rs765379890 | 373 | E>* | No |
ExAC gnomAD |
|
| rs2073530843 | 375 | Q>K | No | Ensembl | |
| rs2073530816 | 376 | A>V | No |
TOPMed gnomAD |
|
| rs933219695 | 379 | D>E | No | Ensembl | |
| TCGA novel | 379 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 380 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1345002656 | 382 | E>D | No | gnomAD | |
|
rs267604726 COSM3787259 |
382 | E>K | pancreas [Cosmic] | No |
cosmic curated Ensembl |
| rs751438184 | 383 | V>A | No |
ExAC gnomAD |
|
| COSM975367 | 383 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs142423594 | 388 | A>D | No | ESP | |
| rs1597455645 | 390 | L>F | No | Ensembl | |
| COSM4404326 | 390 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1597455642 | 392 | S>N | No | Ensembl | |
| rs1597455642 | 392 | S>T | No | Ensembl | |
| rs1320247325 | 396 | A>V | No | gnomAD | |
| rs1382648945 | 397 | D>E | No | gnomAD | |
| rs1217989468 | 398 | L>P | No | TOPMed | |
| rs1295875029 | 399 | L>F | No |
TOPMed gnomAD |
|
| rs2038234980 | 401 | A>G | No | TOPMed | |
| rs2073524986 | 401 | A>P | No | TOPMed | |
| rs2073524986 | 401 | A>T | No | TOPMed | |
| COSM975366 | 402 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753894447 | 403 | C>S | No |
ExAC gnomAD |
|
| rs2073524872 | 406 | R>G | No | TOPMed | |
| rs761203577 | 408 | K>E | No |
ExAC gnomAD |
|
| rs1195969758 | 408 | K>N | No | gnomAD | |
| rs775814087 | 408 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1283400784 | 409 | V>I | No | gnomAD | |
| COSM4063873 | 410 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs141292639 | 412 | E>* | No |
ESP TOPMed |
|
| rs141292639 | 412 | E>K | No |
ESP TOPMed |
|
| rs2142313414 | 413 | Y>F | No | Ensembl | |
| rs769551977 | 416 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs201775814 | 417 | G>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2073524316 | 418 | Q>P | No | TOPMed | |
| rs1271661102 | 420 | V>A | No | gnomAD | |
| rs2073524217 | 422 | Q>H | No | Ensembl | |
| COSM3818801 | 423 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073522627 | 424 | S>P | No | TOPMed | |
| rs2073522627 | 424 | S>T | No | TOPMed | |
|
RCV000712353 rs1567734638 |
425 | N>missing | No |
ClinVar dbSNP |
|
| rs775564358 | 425 | N>S | No |
ExAC gnomAD |
|
|
COSM1380824 rs778709891 |
426 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs2073522266 | 430 | L>R | No |
TOPMed gnomAD |
|
| rs1169173288 | 431 | A>D | No | gnomAD | |
| rs2142313190 | 431 | A>S | No | Ensembl | |
| rs2073522084 | 435 | Y>C | No | Ensembl | |
| rs2073521919 | 438 | M>T | No | TOPMed | |
| rs2073521844 | 440 | L>P | No | gnomAD | |
| rs2073521756 | 442 | M>L | No | Ensembl | |
| TCGA novel | 452 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs895972095 | 454 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| COSM6145577 | 457 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1352155127 | 458 | Y>S | No | gnomAD | |
| rs367858017 | 459 | F>L | No |
ESP TOPMed |
|
| rs367858017 | 459 | F>V | No |
ESP TOPMed |
|
| COSM705076 | 460 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1387302753 | 460 | I>T | No | TOPMed | |
| rs1277086256 | 460 | I>V | No | Ensembl | |
| rs2073520775 | 461 | G>E | No | TOPMed | |
| TCGA novel | 462 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2142313043 | 464 | D>N | No | Ensembl | |
| COSM5009287 | 469 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs763354264 | 470 | I>T | No |
ExAC gnomAD |
|
| rs1320548190 | 472 | D>G | No | gnomAD | |
| TCGA novel | 472 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1380823 | 473 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073501716 | 473 | F>V | No | Ensembl | |
| rs2073501669 | 475 | S>C | No |
TOPMed gnomAD |
|
| TCGA novel | 475 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6080103 | 475 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4063872 | 477 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 482 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073501453 | 482 | N>K | No | Ensembl | |
| rs937321884 | 484 | T>N | No | Ensembl | |
| rs373375087 | 485 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
|
rs752344685 COSM3513982 |
486 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs2073501159 | 489 | Q>E | No | Ensembl | |
| rs1034224727 | 491 | F>V | No | TOPMed | |
| rs1298950743 | 492 | F>L | No | gnomAD | |
| TCGA novel | 492 | F>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073500986 | 492 | F>S | No | TOPMed | |
| rs2073500946 | 493 | N>H | No | gnomAD | |
| rs766948162 | 493 | N>I | No |
ExAC gnomAD |
|
| rs1226633698 | 497 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| COSM75515 | 501 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 502 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs865974946 | 503 | E>K | No | Ensembl | |
| rs1597454790 | 505 | K>E | No | Ensembl | |
| rs2073500369 | 505 | K>N | No | gnomAD | |
| rs762781060 | 506 | K>E | No |
ExAC gnomAD |
|
| COSM3795265 | 509 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1728257322 | 509 | I>S | No | TOPMed | |
| rs1029914899 | 510 | E>G | No | TOPMed | |
|
rs772963819 COSM2925402 RCV001771382 |
510 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| rs1046745263 | 511 | W>R | No | Ensembl | |
| COSM705077 | 512 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1289679247 | 513 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs372386851 | 515 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs894307740 | 516 | F>L | No |
TOPMed gnomAD |
|
| rs780765622 | 517 | G>R | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 518 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 519 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073499633 | 520 | L>P | No |
TOPMed gnomAD |
|
| rs2073499581 | 521 | A>G | No | Ensembl | |
| rs746337780 | 522 | A>V | No |
ExAC gnomAD |
|
| rs982749894 | 526 | L>P | No | TOPMed | |
| TCGA novel | 527 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs767192743 | 527 | I>V | No |
ExAC gnomAD |
|
| rs1597454647 | 531 | M>T | No | Ensembl | |
| rs1338775469 | 532 | G>A | No | gnomAD | |
| rs1338775469 | 532 | G>D | No | gnomAD | |
| rs1330477688 | 534 | F>L | No | gnomAD | |
| rs938506224 | 534 | F>S | No |
TOPMed gnomAD |
|
| rs2073496295 | 536 | I>T | No | Ensembl | |
| TCGA novel | 537 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1207854150 | 542 | M>V | No |
TOPMed gnomAD |
|
| rs1303300236 | 543 | F>L | No | gnomAD | |
| rs2073496109 | 547 | T>I | No | TOPMed | |
| COSM1380822 | 548 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM975364 | 548 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073495993 | 549 | T>A | No | gnomAD | |
| rs1160867842 | 549 | T>I | No |
TOPMed gnomAD |
|
| rs866515284 | 550 | S>F | No | Ensembl | |
| rs1439972247 | 551 | F>L | No | gnomAD | |
| TCGA novel | 552 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs745936474 | 553 | N>Y | No |
ExAC gnomAD |
|
| rs1201456229 | 556 | Y>N | No | gnomAD | |
| rs2073495468 | 557 | D>E | No | Ensembl | |
| COSM3969809 | 557 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1025369497 | 557 | D>Y | No | Ensembl | |
| COSM3795264 | 563 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs377247367 | 564 | A>D | No |
ESP ExAC TOPMed gnomAD |
|
|
rs1567733741 COSM1609832 |
569 | P>T | liver breast [Cosmic] | No |
cosmic curated Ensembl |
| rs778226679 | 571 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs1399951491 | 573 | K>E | No | gnomAD | |
|
RCV001311871 rs1290157496 |
574 | G>C | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1290157496 | 574 | G>R | No |
TOPMed gnomAD |
|
| rs1290157496 | 574 | G>S | No |
TOPMed gnomAD |
|
| rs2142310660 | 576 | A>T | No | Ensembl | |
| rs1359566884 | 578 | A>S | No | gnomAD | |
| rs1359566884 | 578 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2073494437 | 579 | H>N | No | gnomAD | |
| rs757972369 | 581 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs757972369 | 581 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs1370518463 | 581 | A>V | No |
TOPMed gnomAD |
|
| rs2142310605 | 585 | Y>F | No | Ensembl | |
|
rs2142310598 RCV001507372 |
586 | A>T | No |
ClinVar Ensembl dbSNP |
|
| rs757188628 | 587 | G>S | No |
ExAC TOPMed gnomAD |
|
|
rs1348155208 RCV001760934 |
588 | V>F | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1348155208 | 588 | V>I | No |
TOPMed gnomAD |
|
| rs2073493700 | 589 | V>A | No | TOPMed | |
| rs1488625697 | 589 | V>M | No | gnomAD | |
| rs889397912 | 592 | N>D | No | TOPMed | |
| COSM1380820 | 593 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs760478744 | 594 | T>I | No |
ExAC gnomAD |
|
| COSM3958001 | 598 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM975363 | 598 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1597454531 | 598 | E>G | No | Ensembl | |
| rs759581935 | 601 | K>N | No | ExAC | |
| rs147705043 | 602 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs200655452 | 604 | L>P | No | 1000Genomes | |
| rs77355304 | 605 | N>I | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 605 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs77355304 | 605 | N>S | No |
1000Genomes ExAC gnomAD |
|
| rs1597454517 | 605 | N>Y | No | Ensembl | |
| rs770151167 | 608 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| COSM6080104 | 609 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1597454507 | 609 | V>G | No | Ensembl | |
| rs748937823 | 610 | G>E | No | Ensembl | |
| COSM3513977 | 610 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 613 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs748511579 | 614 | K>E | No |
ExAC gnomAD |
|
| rs2142310457 | 614 | K>N | No | Ensembl | |
| COSM705078 | 615 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs779740672 | 616 | A>G | No |
ExAC TOPMed gnomAD |
|
| COSM3513976 | 617 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs150452920 | 620 | L>P | No |
ESP TOPMed gnomAD |
|
| rs1186013345 | 621 | A>T | No | TOPMed | |
|
COSM4799944 rs1375179120 |
622 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs771692331 | 622 | Q>H | No | ExAC | |
| rs955525611 | 626 | G>W | No | TOPMed | |
| rs778516827 | 627 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs756663657 | 628 | Q>E | No | ExAC | |
| rs2073491917 | 629 | T>I | No | Ensembl | |
| rs1453579834 | 630 | A>T | No | gnomAD | |
| COSM3513974 | 632 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3513975 | 632 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs267604725 | 633 | E>K | No | TOPMed | |
| rs1567733383 | 634 | G>R | No | Ensembl | |
| rs770538729 | 634 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs777903117 | 635 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs777903117 | 635 | A>G | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 635 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs777903117 | 635 | A>V | No |
ExAC TOPMed gnomAD |
|
| COSM6080106 | 636 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073484566 | 636 | G>V | No | Ensembl | |
| COSM6145578 | 638 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM705079 | 640 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs756084894 | 641 | K>T | No |
ExAC gnomAD |
|
|
rs1230553094 RCV001579912 |
642 | G>missing | No |
ClinVar dbSNP |
|
| rs748054829 | 642 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1567733362 | 643 | G>D | No | Ensembl | |
| rs1057179446 | 645 | K>R | No |
TOPMed gnomAD |
|
| rs2073484127 | 647 | G>S | No | TOPMed | |
| rs751815825 | 651 | Q>* | No |
ExAC gnomAD |
|
| rs972705229 | 653 | V>L | No |
TOPMed gnomAD |
|
| COSM1380817 | 654 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1179086805 | 655 | A>V | No | gnomAD | |
|
rs2073471193 COSM283025 |
659 | E>D | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
| rs926577766 | 660 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs980772992 | 662 | N>K | No | Ensembl | |
| rs1230352118 | 665 | M>L | No | gnomAD | |
| rs961582546 | 666 | T>P | No | Ensembl | |
| rs908598548 | 668 | L>F | No | Ensembl | |
| rs908598548 | 668 | L>V | No | Ensembl | |
| rs2073470654 | 671 | T>S | No | Ensembl | |
| rs2073470596 | 672 | H>Q | No |
TOPMed gnomAD |
|
| TCGA novel | 673 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073470421 | 674 | H>Q | No | TOPMed | |
| rs757259281 | 674 | H>R | No |
ExAC gnomAD |
|
| rs773915352 | 676 | V>L | No | Ensembl | |
| rs2142308187 | 679 | I>T | No | Ensembl | |
| rs2073470214 | 680 | I>T | No | Ensembl | |
| rs1436919289 | 681 | P>S | No | Ensembl | |
| rs2142308168 | 682 | N>D | No | Ensembl | |
| rs1340952127 | 683 | E>G | No |
TOPMed gnomAD |
|
| rs1166738602 | 684 | T>I | No | gnomAD | |
| TCGA novel | 685 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752969889 | 686 | T>A | No |
ExAC gnomAD |
|
| rs767880435 | 686 | T>I | No |
ExAC TOPMed gnomAD |
|
| COSM705080 | 687 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1175975225 | 688 | G>V | No |
TOPMed gnomAD |
|
| rs199550707 | 689 | A>V | No | 1000Genomes | |
| COSM705083 | 690 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM705081 | 690 | M>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 691 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs778383764 | 692 | H>Y | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 693 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs112403642 | 693 | E>G | No | Ensembl | |
| rs151319933 | 694 | L>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 695 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1022070751 | 696 | L>F | No |
TOPMed gnomAD |
|
|
COSM6145579 rs2073468436 COSM1520110 |
698 | Q>H | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic TOPMed |
| rs1259249860 | 701 | C>Y | No | gnomAD | |
| TCGA novel | 703 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3513970 | 703 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM705084 | 705 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1225706501 | 708 | I>N | No |
TOPMed gnomAD |
|
| rs761461325 | 709 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs369618095 | 709 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 710 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1709884 | 714 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 717 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM975362 | 717 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 720 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073467691 | 721 | Y>C | No | Ensembl | |
| rs2142307832 | 722 | A>G | No | 1000Genomes | |
| TCGA novel | 725 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs904850136 | 726 | Q>* | No |
TOPMed gnomAD |
|
| COSM283024 | 726 | Q>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs904850136 | 726 | Q>E | No |
TOPMed gnomAD |
|
| TCGA novel | 727 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs536123825 | 728 | Y>H | No |
1000Genomes ExAC gnomAD |
|
| rs1037641295 | 729 | K>* | No | Ensembl | |
| TCGA novel | 729 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1181503833 | 729 | K>R | No |
TOPMed gnomAD |
|
| rs1417891514 | 730 | V>I | No | gnomAD | |
| rs759366023 | 731 | L>F | No |
ExAC gnomAD |
|
| rs1258863385 | 731 | L>S | No | gnomAD | |
| rs2073450419 | 733 | A>T | No | TOPMed | |
| rs774161551 | 734 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs1196880840 | 735 | A>T | No | TOPMed | |
| rs1272813838 | 736 | I>V | No |
TOPMed gnomAD |
|
| rs2073450222 | 737 | P>H | No | TOPMed | |
| rs2073450222 | 737 | P>L | No | TOPMed | |
| COSM2925377 | 737 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073450150 | 740 | Q>K | No | Ensembl | |
| rs1354661600 | 741 | F>L | No | gnomAD | |
| rs201382074 | 744 | S>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2073449885 | 744 | S>T | No | Ensembl | |
| COSM3513969 | 747 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs900541112 | 747 | A>V | No |
TOPMed gnomAD |
|
| rs2073449668 | 748 | S>P | No | TOPMed | |
| rs2073449512 | 751 | L>F | No | gnomAD | |
| rs1400278770 | 753 | A>P | No | gnomAD | |
| rs1475739624 | 754 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1567732064 | 755 | I>V | No | Ensembl | |
| rs1452167134 | 758 | D>E | No |
TOPMed gnomAD |
|
| rs1166060339 | 759 | H>P | No | gnomAD | |
| rs1313089494 | 759 | H>Y | No | Ensembl | |
| rs753439654 | 760 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs753439654 | 760 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs1328259384 | 760 | T>S | No | TOPMed | |
| TCGA novel | 761 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139196902 COSM1679578 |
762 | Y>* | large_intestine [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs2073448878 | 762 | Y>C | No | TOPMed | |
| rs2073448924 | 762 | Y>H | No | Ensembl | |
| rs935050370 | 764 | F>S | No | TOPMed | |
| rs1181618535 | 766 | H>L | No | gnomAD | |
| rs376996900 | 767 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs376996900 | 767 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs199951276 | 769 | V>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs199951276 | 769 | V>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1212806998 | 770 | F>I | No | gnomAD | |
| rs754414793 | 775 | L>V | No |
ExAC gnomAD |
|
| rs1387324323 | 777 | G>E | No | TOPMed | |
|
RCV001556334 rs2142305536 |
777 | G>W | No |
ClinVar Ensembl dbSNP |
|
| rs750203874 | 780 | E>K | No | ExAC | |
|
COSM975361 rs1304716713 |
783 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs2073446787 | 789 | Q>H | No | gnomAD | |
| rs2073446752 | 790 | L>M | No | Ensembl | |
| rs2073446715 | 790 | L>R | No |
TOPMed gnomAD |
|
| rs1395799664 | 792 | T>A | No |
TOPMed gnomAD |
|
| TCGA novel | 792 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772598372 | 794 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs1200040691 | 796 | A>D | No | TOPMed | |
| rs2073446518 | 796 | A>T | No | TOPMed | |
| rs1200040691 | 796 | A>V | No | TOPMed | |
| rs2142305390 | 797 | R>G | No | Ensembl | |
| rs2073446332 | 798 | C>Y | No | TOPMed | |
| rs754150715 | 799 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs751050344 | 799 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1270329583 | 800 | G>E | No |
TOPMed gnomAD |
|
|
rs766702700 COSM3513966 |
800 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA Cosmic |
| COSM436006 | 800 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM436005 | 801 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs886270882 | 803 | A>E | No | Ensembl | |
| rs1234026985 | 804 | R>K | No |
TOPMed gnomAD |
|
| rs1234026985 | 804 | R>T | No |
TOPMed gnomAD |
|
| rs750282073 | 805 | V>M | No |
ExAC gnomAD |
|
| rs761634264 | 806 | E>G | No |
ExAC gnomAD |
|
| rs1443622064 | 806 | E>K | No | gnomAD | |
| rs1416226005 | 807 | Y>C | No | gnomAD | |
|
TCGA novel rs2073445153 |
810 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2073445202 | 810 | M>L | No |
TOPMed gnomAD |
|
| rs1163720075 | 812 | E>D | No | gnomAD | |
| rs1432661365 | 813 | R>G | No | gnomAD | |
| COSM4831107 | 813 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3889260 | 813 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 814 | R>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6080109 | 814 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 816 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs957425416 | 817 | I>T | No | Ensembl | |
| COSM368079 | 820 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1413214399 | 820 | I>T | No | gnomAD | |
| rs757793453 | 822 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs2073428722 | 822 | Y>D | No |
TOPMed gnomAD |
|
| rs757793453 | 822 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs2073428722 | 822 | Y>H | No |
TOPMed gnomAD |
|
| rs189202067 | 824 | I>M | No |
1000Genomes TOPMed gnomAD |
|
| rs745823256 | 824 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs2073428265 | 825 | R>I | No | TOPMed | |
| COSM3513962 | 826 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1447040213 | 826 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
rs2073428044 COSM6080110 COSM559838 |
828 | M>I | Variant assessed as Somatic; MODERATE impact. lung [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
| rs2073428092 | 828 | M>T | No | TOPMed | |
| TCGA novel | 831 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1032883961 | 834 | P>S | No | TOPMed | |
| rs1032883961 | 834 | P>T | No | TOPMed | |
| rs2073427708 | 835 | W>* | No | TOPMed | |
| rs1597452087 | 837 | K>N | No | Ensembl | |
| rs1300217058 | 837 | K>T | No |
TOPMed gnomAD |
|
|
TCGA novel rs1489105001 |
839 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
TOPMed gnomAD NCI-TCGA |
| rs2073427474 | 839 | F>V | No |
TOPMed gnomAD |
|
| TCGA novel | 841 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1468335208 | 842 | I>F | No | Ensembl | |
| rs1216970621 | 842 | I>N | No | gnomAD | |
| rs1384377366 | 844 | P>H | No | Ensembl | |
| rs753664961 | 846 | L>V | No |
ExAC gnomAD |
|
| rs1245985059 | 847 | K>N | No |
TOPMed gnomAD |
|
| rs763939647 | 847 | K>Q | No |
ExAC gnomAD |
|
| rs374630865 | 849 | A>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1342630631 | 849 | A>S | No | gnomAD | |
| TCGA novel | 850 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1343168156 | 851 | T>A | No | gnomAD | |
| rs1343168156 | 851 | T>S | No | gnomAD | |
|
COSM3513961 rs2073426230 |
852 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| TCGA novel | 853 | K>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1220559051 | 855 | M>K | No |
TOPMed gnomAD |
|
|
rs2073426020 COSM3513959 |
858 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
| rs2073426055 | 858 | M>V | No | Ensembl | |
| COSM3361986 | 860 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs774977216 | 860 | E>G | No | ExAC | |
| TCGA novel | 860 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073425948 | 861 | E>G | No | TOPMed | |
| TCGA novel | 863 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 865 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs902960887 | 865 | I>T | No | TOPMed | |
| rs1417070321 | 865 | I>V | No | gnomAD | |
| rs1236523444 | 867 | D>N | No |
TOPMed gnomAD |
|
| rs267604724 | 868 | E>* | No |
ExAC TOPMed gnomAD |
|
| COSM1493783 | 869 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4063869 | 870 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1185531580 | 870 | A>T | No | gnomAD | |
| rs1256101036 | 871 | K>Q | No |
TOPMed gnomAD |
|
|
rs2142303290 RCV001580086 |
872 | S>* | No |
ClinVar Ensembl dbSNP |
|
| rs1422563021 | 872 | S>A | No | TOPMed | |
| rs1567731262 | 874 | A>S | No | Ensembl | |
| rs1567731262 | 874 | A>T | No | Ensembl | |
| COSM3513958 | 874 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780430498 | 875 | K>R | No | Ensembl | |
| TCGA novel | 876 | R>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774938875 | 876 | R>K | No | ExAC | |
|
rs745357669 COSM1709883 |
878 | E>K | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs749187684 | 879 | L>Q | No |
ExAC gnomAD |
|
| rs777723163 | 880 | E>K | No |
ExAC gnomAD |
|
| TCGA novel | 882 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755905885 COSM124604 |
882 | K>N | Variant assessed as Somatic; MODERATE impact. upper_aerodigestive_tract [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs753025570 | 883 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs1597451997 | 883 | M>T | No | Ensembl | |
| rs1407784794 | 884 | V>M | No |
TOPMed gnomAD |
|
| rs2073424960 | 885 | T>A | No | Ensembl | |
| rs2073424960 | 885 | T>S | No | Ensembl | |
| COSM975359 | 889 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073424708 | 889 | E>D | No | gnomAD | |
| rs766408611 | 889 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs1376949512 | 889 | E>Q | No |
TOPMed gnomAD |
|
| rs1278677772 | 890 | K>I | No | TOPMed | |
| TCGA novel | 890 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs763860580 | 891 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4603769 | 891 | N>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1256421951 | 892 | D>N | No |
TOPMed gnomAD |
|
| TCGA novel | 894 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073424504 | 894 | Q>K | No |
TOPMed gnomAD |
|
| COSM4900858 | 896 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2142303131 | 899 | A>D | No | Ensembl | |
|
COSM3513957 rs890055941 |
900 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
COSM705085 rs769765489 |
901 | A>D | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs866325619 | 901 | A>T | No | TOPMed | |
| rs751758840 | 903 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs751758840 | 903 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs751758840 | 903 | G>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 904 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1567730601 | 906 | D>N | No | Ensembl | |
| rs1597451362 | 911 | C>G | No | Ensembl | |
| rs1183452702 | 912 | D>N | No |
TOPMed gnomAD |
|
| rs369080412 | 913 | Q>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1266792779 | 916 | K>Q | No | gnomAD | |
| rs1211805074 | 917 | T>I | No | gnomAD | |
|
TCGA novel rs2073406391 |
918 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1347399950 | 920 | Q>P | No | gnomAD | |
| rs945784307 | 922 | E>Q | No |
TOPMed gnomAD |
|
| rs1240903804 | 923 | A>G | No | gnomAD | |
| rs1240903804 | 923 | A>V | No | gnomAD | |
| rs568381131 | 925 | I>M | No |
1000Genomes ExAC gnomAD |
|
| rs1317463160 | 925 | I>T | No | gnomAD | |
| rs1467284687 | 928 | V>L | No | TOPMed | |
| rs762288810 | 932 | A>V | No |
ExAC gnomAD |
|
| rs2073405678 | 933 | E>K | No | TOPMed | |
| rs764469097 | 934 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs764469097 | 934 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs1373237213 | 936 | E>* | No |
TOPMed gnomAD |
|
|
rs1311500972 TCGA novel |
937 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| TCGA novel | 937 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs922109087 | 939 | N>S | No | Ensembl | |
| rs1319516994 | 942 | L>M | No | TOPMed | |
| rs2142300914 | 943 | T>K | No | Ensembl | |
| TCGA novel | 943 | T>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 945 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 945 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073404916 | 945 | K>Q | No | gnomAD | |
| rs762535527 | 947 | R>T | No |
ExAC TOPMed gnomAD |
|
| rs570623225 | 949 | L>Q | No | 1000Genomes | |
| rs1597451289 | 951 | D>G | No | Ensembl | |
| rs773328490 | 951 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
COSM975357 rs1198777358 |
952 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs748076083 | 953 | C>* | No |
ExAC gnomAD |
|
| rs2073404612 | 953 | C>S | No | Ensembl | |
| rs769584125 | 953 | C>Y | No | ExAC | |
| rs780874407 | 954 | S>L | No |
ExAC gnomAD |
|
| rs552383606 | 957 | K>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs747240113 | 957 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1212172511 | 958 | K>E | No | gnomAD | |
| rs1260099892 | 959 | D>E | No | gnomAD | |
| rs780254300 | 959 | D>V | No |
ExAC gnomAD |
|
| COSM283023 | 959 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1236856873 | 960 | I>S | No | gnomAD | |
| rs1338582179 | 960 | I>V | No | gnomAD | |
| rs2073404140 | 962 | D>V | No | TOPMed | |
| COSM276209 | 962 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1336819956 | 963 | L>F | No |
TOPMed gnomAD |
|
| TCGA novel | 964 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs927215455 | 964 | E>K | No |
TOPMed gnomAD |
|
| rs757738360 | 970 | V>A | No |
ExAC TOPMed gnomAD |
|
| COSM975355 | 972 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754311300 | 975 | H>N | No |
ExAC TOPMed gnomAD |
|
| rs1452308004 | 976 | A>P | No |
TOPMed gnomAD |
|
| rs1452308004 | 976 | A>T | No |
TOPMed gnomAD |
|
| COSM975354 | 976 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073403610 | 977 | T>I | No | TOPMed | |
| rs2073403551 | 978 | E>K | No | Ensembl | |
| rs761095824 | 980 | K>E | No |
ExAC gnomAD |
|
| COSM3513956 | 981 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1426541861 | 981 | V>A | No | TOPMed | |
| rs529222815 | 981 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2073401988 | 982 | K>R | No | Ensembl | |
| COSM3513955 | 984 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6080111 | 984 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM2925351 rs561914403 |
988 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes NCI-TCGA TOPMed |
| rs1300369809 | 989 | A>E | No |
TOPMed gnomAD |
|
| TCGA novel | 990 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3889258 rs2073401618 |
993 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs2073401576 | 994 | T>A | No | TOPMed | |
| rs150018546 | 994 | T>I | No |
1000Genomes ExAC gnomAD |
|
| rs753079624 | 995 | I>T | No |
ExAC gnomAD |
|
| rs2142300485 | 995 | I>V | No | Ensembl | |
| COSM705086 | 997 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6145581 | 997 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 998 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1481493752 | 1000 | K>E | No |
TOPMed gnomAD |
|
| TCGA novel | 1000 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073401167 | 1001 | E>K | No | gnomAD | |
| rs1324293373 | 1002 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs557880529 | 1004 | A>D | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 1004 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073400874 | 1006 | Q>* | No | Ensembl | |
| COSM6145582 | 1007 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1226690028 | 1007 | E>K | No |
TOPMed gnomAD |
|
| TCGA novel | 1008 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1009 | H>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1373583996 | 1009 | H>R | No | gnomAD | |
| rs1234845945 | 1009 | H>Y | No | TOPMed | |
| rs1440879046 | 1010 | Q>K | No |
TOPMed gnomAD |
|
| rs1391982958 | 1011 | Q>K | No | gnomAD | |
| rs1231999038 | 1012 | T>I | No | TOPMed | |
| rs1231999038 | 1012 | T>N | No | TOPMed | |
| rs1396041928 | 1012 | T>S | No | gnomAD | |
| rs1395510063 | 1015 | D>E | No |
TOPMed gnomAD |
|
| rs1436376181 | 1015 | D>G | No |
TOPMed gnomAD |
|
| rs1452576504 | 1016 | L>P | No | gnomAD | |
| rs922139739 | 1017 | Q>* | No | gnomAD | |
| rs922139739 | 1017 | Q>K | No | gnomAD | |
| rs902646014 | 1018 | A>T | No | TOPMed | |
| rs1248185725 | 1019 | E>K | No | gnomAD | |
| rs1436685526 | 1019 | E>V | No | gnomAD | |
|
rs1212639545 COSM5143942 |
1021 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| COSM4930989 | 1023 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1253696682 | 1023 | V>D | No | TOPMed | |
| rs1567730246 | 1025 | T>N | No | TOPMed | |
| rs1453813309 | 1027 | T>S | No | TOPMed | |
| rs2073399691 | 1028 | K>R | No |
TOPMed gnomAD |
|
| rs2073399476 | 1031 | I>T | No | Ensembl | |
| rs2142300204 | 1033 | L>P | No | Ensembl | |
| rs1343512692 | 1034 | E>K | No | gnomAD | |
| rs2073399296 | 1035 | Q>K | No | Ensembl | |
| rs2073399225 | 1037 | V>L | No |
TOPMed gnomAD |
|
|
rs2142300169 COSM1679577 |
1038 | D>Y | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
| rs1239896015 | 1039 | D>G | No | gnomAD | |
| rs1454673871 | 1039 | D>N | No | TOPMed | |
| COSM472283 | 1040 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073398045 | 1041 | E>A | No | Ensembl | |
| TCGA novel | 1041 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1459718999 | 1042 | G>E | No |
TOPMed gnomAD |
|
|
rs1459718999 COSM3513952 |
1042 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs763044648 | 1045 | E>Q | No |
ExAC gnomAD |
|
| rs534927767 | 1046 | Q>* | No |
1000Genomes ExAC gnomAD |
|
| rs534927767 | 1046 | Q>E | No |
1000Genomes ExAC gnomAD |
|
| COSM4927723 | 1047 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1356350664 | 1050 | L>F | No | gnomAD | |
| rs1292862591 | 1050 | L>H | No | gnomAD | |
|
rs748670485 COSM245856 |
1051 | R>C | endometrium central_nervous_system prostate [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1027280616 | 1051 | R>L | No |
TOPMed gnomAD |
|
| rs909950209 | 1052 | M>K | No | gnomAD | |
| rs1390742180 | 1052 | M>L | No |
TOPMed gnomAD |
|
| rs909950209 | 1052 | M>T | No | gnomAD | |
| rs2073397291 | 1053 | D>E | No | gnomAD | |
| rs769201728 | 1055 | E>* | No |
ExAC gnomAD |
|
| rs769201728 | 1055 | E>Q | No |
ExAC gnomAD |
|
| COSM4263166 | 1056 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073397152 | 1056 | R>W | No | Ensembl | |
| rs896990916 | 1057 | A>S | No |
TOPMed gnomAD |
|
| rs2073397065 | 1057 | A>V | No | Ensembl | |
|
rs371178030 RCV001754636 |
1059 | R>K | No |
ClinVar ESP TOPMed dbSNP gnomAD |
|
| TCGA novel | 1059 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6080112 | 1062 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778475119 | 1063 | G>C | No |
ExAC gnomAD |
|
| rs778475119 | 1063 | G>S | No |
ExAC gnomAD |
|
| rs756969288 | 1064 | D>N | No |
ExAC gnomAD |
|
| COSM3402596 | 1065 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs552670900 | 1065 | L>S | No |
1000Genomes ExAC gnomAD |
|
| rs752686587 | 1068 | A>T | No |
ExAC gnomAD |
|
| rs2142299864 | 1069 | Q>H | No | Ensembl | |
| rs1294182570 | 1070 | E>D | No | TOPMed | |
| rs759285714 | 1070 | E>G | No |
ExAC gnomAD |
|
| rs2073396485 | 1072 | I>V | No |
TOPMed gnomAD |
|
| rs1405978022 | 1074 | D>G | No | gnomAD | |
| rs766037306 | 1075 | I>V | No |
ExAC TOPMed gnomAD |
|
| COSM1324180 | 1078 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1079 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000627337 rs1007918379 CA287738935 |
1080 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2073396090 | 1083 | D>Y | No | Ensembl | |
| rs763248070 | 1084 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs201200153 | 1085 | K>E | No | 1000Genomes | |
| rs773242793 | 1085 | K>N | No | ExAC | |
| rs770066931 | 1086 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs761971624 | 1087 | K>R | No |
ExAC gnomAD |
|
| rs775797510 | 1088 | K>N | No |
ExAC gnomAD |
|
| TCGA novel | 1089 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772543096 | 1090 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs563585398 | 1091 | F>I | No |
ExAC gnomAD |
|
| rs1567729968 | 1095 | N>H | No | Ensembl | |
| rs2073393982 | 1096 | L>P | No | gnomAD | |
| COSM1679575 | 1099 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772888885 | 1099 | K>Q | No |
ExAC gnomAD |
|
| rs1597450846 | 1100 | I>L | No | TOPMed | |
| rs139295564 | 1103 | E>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM6145583 | 1104 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1189554510 | 1104 | Q>K | No | gnomAD | |
| rs1481637905 | 1105 | A>V | No | gnomAD | |
| rs528321409 | 1107 | G>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs528321409 | 1107 | G>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs747036162 | 1108 | I>V | No |
ExAC gnomAD |
|
| rs758264018 | 1111 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs1567729940 | 1111 | Q>R | No | Ensembl | |
| rs545948079 | 1112 | K>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM975352 | 1112 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs545948079 | 1112 | K>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs754058721 | 1115 | K>E | No |
ExAC gnomAD |
|
| rs1407686539 | 1115 | K>I | No | gnomAD | |
| COSM975351 | 1116 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3513949 rs2142299458 |
1116 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs760655197 | 1117 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| TCGA novel | 1119 | A>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073391512 | 1119 | A>T | No | Ensembl | |
|
rs752746936 COSM1380816 |
1120 | R>H | Variant assessed as Somatic; MODERATE impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs555708565 | 1121 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs767581337 | 1121 | I>V | No |
ExAC TOPMed gnomAD |
|
| COSM6080113 | 1122 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1267356275 | 1124 | L>P | No | gnomAD | |
| rs941183469 | 1125 | E>G | No | TOPMed | |
| COSM975350 | 1125 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1709882 rs763292061 |
1127 | E>K | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs534965939 | 1129 | E>K | No |
1000Genomes ExAC gnomAD |
|
| rs534965939 | 1129 | E>Q | No |
1000Genomes ExAC gnomAD |
|
| rs2073391026 | 1129 | E>V | No | TOPMed | |
| rs774889440 | 1131 | E>G | No |
ExAC gnomAD |
|
| rs760335549 | 1131 | E>K | No |
ExAC gnomAD |
|
| rs760335549 | 1131 | E>Q | No |
ExAC gnomAD |
|
|
rs745807547 COSM3783016 |
1132 | R>W | Variant assessed as Somatic; MODERATE impact. oesophagus prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| COSM1520115 | 1133 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs151164070 COSM4749863 |
1135 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1597450695 | 1136 | A>D | No | Ensembl | |
|
rs777579745 COSM1258445 |
1139 | E>D | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC gnomAD |
| COSM3969808 | 1139 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs756308878 | 1140 | K>M | No |
ExAC gnomAD |
|
| rs2073390619 | 1140 | K>Q | No | Ensembl | |
| rs756308878 | 1140 | K>R | No |
ExAC gnomAD |
|
| rs756308878 | 1140 | K>T | No |
ExAC gnomAD |
|
| rs755044105 | 1143 | S>P | No |
ExAC gnomAD |
|
| rs752116558 | 1144 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs1469742891 | 1145 | L>I | No | gnomAD | |
| rs763350546 | 1145 | L>P | No |
ExAC gnomAD |
|
| rs1208708711 | 1146 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs765588558 | 1147 | R>W | No |
ExAC TOPMed gnomAD |
|
|
COSM2925333 rs775146540 |
1148 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
COSM367172 rs775146540 |
1148 | E>Q | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1316635630 | 1150 | E>D | No | TOPMed | |
| rs2073389994 | 1150 | E>V | No | gnomAD | |
| COSM705087 | 1151 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs771777658 | 1152 | I>N | No |
ExAC gnomAD |
|
| COSM3370604 | 1153 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs142095822 | 1153 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1266798214 | 1153 | S>T | No | TOPMed | |
| rs373568869 | 1154 | E>A | No |
ESP ExAC gnomAD |
|
| rs1386218326 | 1155 | R>K | No | gnomAD | |
| rs749196519 | 1157 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs570058780 | 1159 | A>D | No |
1000Genomes ExAC gnomAD |
|
| rs781461127 | 1160 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1191834402 | 1162 | A>T | No | gnomAD | |
| rs755101080 | 1163 | T>A | No |
ExAC gnomAD |
|
| rs751609117 | 1163 | T>N | No |
ExAC gnomAD |
|
| rs1449334126 | 1165 | A>D | No |
TOPMed gnomAD |
|
| rs1449334126 | 1165 | A>G | No |
TOPMed gnomAD |
|
| rs750888797 | 1167 | I>F | No |
ExAC gnomAD |
|
|
RCV000760744 rs765529429 |
1168 | E>* | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1482506132 | 1168 | E>D | No |
TOPMed gnomAD |
|
| COSM417198 | 1168 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073388800 | 1169 | M>I | No | TOPMed | |
| rs371531049 | 1169 | M>V | No |
ExAC gnomAD |
|
| rs1226573854 | 1170 | N>K | No |
TOPMed gnomAD |
|
| rs2073388762 | 1170 | N>S | No | gnomAD | |
| COSM6080115 | 1173 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM5055208 rs767243766 |
1173 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1329470757 | 1175 | A>P | No |
TOPMed gnomAD |
|
| rs1329470757 | 1175 | A>S | No |
TOPMed gnomAD |
|
| rs375767484 | 1176 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs2073388357 | 1178 | Q>H | No | Ensembl | |
| rs1294791311 | 1180 | M>V | No | TOPMed | |
| rs201768483 | 1181 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs2073388190 | 1182 | R>T | No | Ensembl | |
| rs2073388122 | 1183 | D>N | No | TOPMed | |
| rs769532547 | 1185 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA |
| rs1171879020 | 1186 | E>A | No |
TOPMed gnomAD |
|
| COSM4818397 | 1186 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1187 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1597450583 | 1188 | T>P | No | Ensembl | |
| rs768899738 | 1190 | Q>* | No |
ExAC gnomAD |
|
| rs768899738 | 1190 | Q>K | No |
ExAC gnomAD |
|
| COSM6145584 | 1192 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs758440627 | 1193 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs1567729687 | 1193 | A>T | No | Ensembl | |
| rs758440627 | 1193 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs368068850 | 1194 | T>I | No | Ensembl | |
| COSM705089 | 1194 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs373108053 | 1195 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs1420371528 | 1196 | A>T | No | TOPMed | |
| rs919908797 | 1197 | T>I | No | Ensembl | |
| rs2073387135 | 1198 | L>R | No | TOPMed | |
| COSM3513941 | 1199 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073386986 | 1200 | K>R | No | Ensembl | |
| rs1350103067 | 1203 | A>V | No | gnomAD | |
| rs754686491 | 1205 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs369716273 | 1207 | A>T | No |
ESP TOPMed |
|
| rs1354433840 | 1209 | L>F | No | TOPMed | |
| TCGA novel | 1209 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773070895 | 1209 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs773070895 | 1209 | L>R | No |
ExAC TOPMed gnomAD |
|
| rs1386976665 | 1211 | E>K | No |
TOPMed gnomAD |
|
| rs765189672 | 1212 | Q>K | No |
ExAC gnomAD |
|
| rs761617487 | 1213 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs2073386313 | 1214 | D>G | No | TOPMed | |
| rs139755852 | 1218 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| COSM6080116 | 1219 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073385861 | 1219 | V>M | No | gnomAD | |
| rs1286872152 | 1220 | K>R | No | gnomAD | |
| rs775688221 | 1221 | Q>E | No |
ExAC gnomAD |
|
| rs528411613 | 1222 | K>E | No |
1000Genomes TOPMed |
|
| rs772105755 | 1222 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1266290144 | 1225 | K>R | No | gnomAD | |
| rs1597450475 | 1226 | E>K | No | Ensembl | |
| rs2073385418 | 1228 | S>R | No | TOPMed | |
| rs147439455 | 1228 | S>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1380156657 | 1229 | E>A | No | gnomAD | |
| rs1380156657 | 1229 | E>G | No | gnomAD | |
| rs2073385381 | 1229 | E>K | No | TOPMed | |
| rs778814751 | 1231 | K>R | No |
ExAC gnomAD |
|
| rs778814751 | 1231 | K>T | No |
ExAC gnomAD |
|
| TCGA novel | 1231 | K>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs903575959 | 1232 | M>T | No | Ensembl | |
| rs1435997919 | 1233 | E>* | No |
TOPMed gnomAD |
|
| rs1445456304 | 1233 | E>D | No | gnomAD | |
| rs756540877 | 1236 | D>E | No |
ExAC gnomAD |
|
| COSM1216201 | 1236 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs543444373 | 1239 | S>G | No | Ensembl | |
| rs2073384784 | 1240 | N>K | No | TOPMed | |
| rs757885675 | 1241 | V>A | No |
ExAC gnomAD |
|
| TCGA novel | 1245 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3513938 | 1246 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3513937 | 1247 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2142298469 | 1247 | A>T | No | Ensembl | |
| rs1219331596 | 1249 | G>A | No |
TOPMed gnomAD |
|
|
COSM3513936 rs1219331596 |
1249 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1219331596 | 1249 | G>V | No |
TOPMed gnomAD |
|
| rs2073373192 | 1252 | E>G | No | TOPMed | |
| rs1004300875 | 1254 | M>I | No |
TOPMed gnomAD |
|
| rs965337763 | 1254 | M>V | No |
TOPMed gnomAD |
|
| rs770455023 | 1257 | T>A | No |
ExAC gnomAD |
|
| rs770455023 | 1257 | T>S | No |
ExAC gnomAD |
|
| COSM6080117 | 1258 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
TCGA novel rs1139429 |
1259 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1481917316 | 1259 | E>Q | No | TOPMed | |
| rs1452554059 | 1260 | D>E | No | gnomAD | |
| rs2073372791 | 1261 | Q>* | No | gnomAD | |
| rs2073372791 | 1261 | Q>E | No | gnomAD | |
| TCGA novel | 1262 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs777067614 | 1262 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs2073372548 | 1268 | K>R | No |
TOPMed gnomAD |
|
| COSM2925319 | 1269 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1884413868 | 1269 | E>V | No | gnomAD | |
| rs1475605145 | 1272 | Q>* | No | TOPMed | |
| rs1567729116 | 1273 | Q>* | No | Ensembl | |
| rs756811670 | 1274 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1412139699 | 1276 | I>V | No | TOPMed | |
| rs1210782200 | 1277 | N>D | No | gnomAD | |
| rs748769486 | 1277 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs905151466 | 1278 | D>H | No |
TOPMed gnomAD |
|
| rs2073371896 | 1282 | Q>R | No |
TOPMed gnomAD |
|
| rs2073371857 | 1283 | R>T | No | TOPMed | |
| rs1281918221 | 1284 | G>A | No | Ensembl | |
| rs374494789 | 1285 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs1273762551 | 1286 | L>R | No |
TOPMed gnomAD |
|
| rs2073371575 | 1288 | T>I | No | TOPMed | |
| rs1282809610 | 1289 | E>K | No | TOPMed | |
| COSM1380815 | 1290 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1290 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs747924610 | 1291 | G>D | No |
TOPMed gnomAD |
|
| rs1359030357 | 1291 | G>R | No |
TOPMed gnomAD |
|
| rs1359030357 | 1291 | G>S | No |
TOPMed gnomAD |
|
| rs1328046224 | 1293 | F>L | No |
TOPMed gnomAD |
|
| rs1370359777 | 1293 | F>L | No | gnomAD | |
| COSM3513933 | 1294 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1190477296 | 1296 | Q>H | No | gnomAD | |
| rs777266089 | 1297 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs1170754696 | 1297 | L>P | No |
TOPMed gnomAD |
|
| rs2073364429 | 1298 | D>E | No | Ensembl | |
| rs755613860 | 1298 | D>G | No |
ExAC gnomAD |
|
| rs1046313955 | 1298 | D>H | No | TOPMed | |
| TCGA novel | 1299 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1380812 | 1299 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs748171921 | 1300 | K>* | No |
ExAC gnomAD |
|
| rs780968451 | 1300 | K>R | No |
ExAC gnomAD |
|
| rs2073364295 | 1303 | L>M | No | gnomAD | |
| COSM559847 | 1303 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2142295961 | 1305 | S>T | No | Ensembl | |
| rs2142295957 | 1306 | Q>R | No | Ensembl | |
| rs2073364132 | 1307 | L>F | No | TOPMed | |
| COSM417199 | 1308 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3513932 | 1308 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754840128 | 1311 | K>R | No |
ExAC gnomAD |
|
| rs186654707 | 1312 | Q>E | No | 1000Genomes | |
| rs868504540 | 1312 | Q>R | No | Ensembl | |
| rs1377258436 | 1315 | T>I | No | Ensembl | |
| rs2073363922 | 1315 | T>S | No | TOPMed | |
| rs554431336 | 1316 | Q>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1319988370 | 1317 | Q>* | No |
TOPMed gnomAD |
|
| rs1319988370 | 1317 | Q>E | No |
TOPMed gnomAD |
|
| rs1052112402 | 1318 | I>T | No |
TOPMed gnomAD |
|
| rs2073363669 | 1319 | E>K | No | Ensembl | |
| rs141370980 | 1320 | E>* | No |
1000Genomes ESP TOPMed gnomAD |
|
|
COSM1216200 rs141370980 |
1320 | E>K | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ESP TOPMed gnomAD |
| TCGA novel | 1322 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1037855981 | 1323 | R>K | No |
TOPMed gnomAD |
|
| rs1567728744 | 1324 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| TCGA novel | 1327 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761787139 | 1328 | E>D | No |
ExAC gnomAD |
|
| TCGA novel | 1328 | E>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1300226473 | 1329 | I>M | No | TOPMed | |
| rs1389404424 | 1329 | I>T | No |
TOPMed gnomAD |
|
| rs777247403 | 1330 | K>E | No |
ExAC gnomAD |
|
| COSM276208 | 1330 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1331 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1377767599 | 1331 | A>G | No |
TOPMed gnomAD |
|
| rs2073361570 | 1331 | A>T | No | TOPMed | |
| rs1377767599 | 1331 | A>V | No |
TOPMed gnomAD |
|
| COSM975348 | 1332 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073361433 | 1333 | N>T | No | TOPMed | |
| TCGA novel | 1337 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1321517422 | 1338 | A>T | No | gnomAD | |
| rs767924248 | 1339 | L>Q | No |
ExAC gnomAD |
|
| rs1411302335 | 1340 | Q>L | No |
TOPMed gnomAD |
|
| rs1411302335 | 1340 | Q>R | No |
TOPMed gnomAD |
|
|
rs267604721 COSM2925311 |
1342 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs1597449375 | 1342 | S>P | No | Ensembl | |
|
RCV002259458 rs145911509 |
1343 | R>C | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs753313043 COSM3937243 |
1343 | R>H | oesophagus [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs531291725 | 1345 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1402756549 | 1346 | C>* | No | gnomAD | |
| rs1416163148 | 1346 | C>R | No | gnomAD | |
| rs1416163148 | 1346 | C>S | No | gnomAD | |
| rs2073359994 | 1349 | L>P | No | gnomAD | |
| rs1439822894 | 1351 | E>V | No | gnomAD | |
| rs1413745380 | 1353 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1413745380 | 1353 | Y>F | No | gnomAD | |
| rs1356200425 | 1355 | E>D | No |
TOPMed gnomAD |
|
| rs958080489 | 1356 | E>* | No | TOPMed | |
| rs958080489 | 1356 | E>K | No | TOPMed | |
| TCGA novel | 1356 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1358 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263474588 COSM3513931 |
1358 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| COSM975347 | 1359 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1182513821 | 1360 | K>R | No | gnomAD | |
| rs746987339 | 1361 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA |
| TCGA novel | 1361 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1180032023 | 1364 | Q>E | No |
TOPMed gnomAD |
|
| rs778813683 | 1366 | A>T | No |
ExAC gnomAD |
|
| rs970763155 | 1367 | L>R | No | Ensembl | |
| rs1180091018 | 1368 | S>P | No |
TOPMed gnomAD |
|
| rs756201922 | 1371 | N>K | No |
ExAC gnomAD |
|
| rs1042075 | 1372 | T>I | No |
ExAC gnomAD |
|
| rs1042075 | 1372 | T>S | No |
ExAC gnomAD |
|
| rs34211843 | 1374 | V>A | No | gnomAD | |
| rs751942157 | 1374 | V>I | No |
ExAC gnomAD |
|
| COSM3402594 | 1375 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073357973 | 1378 | R>K | No | TOPMed | |
| rs149667200 | 1378 | R>W | No |
ESP TOPMed gnomAD |
|
| rs2073357935 | 1379 | T>I | No | TOPMed | |
| COSM6145586 | 1381 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM975346 | 1381 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1382 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4623474 rs1456388384 |
1383 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs779665835 | 1384 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs760241720 | 1385 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs745754711 | 1388 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs866128026 | 1389 | T>I | No | Ensembl | |
| rs2142295280 | 1390 | E>G | No | Ensembl | |
| rs1285449592 | 1390 | E>K | No | Ensembl | |
| rs770751118 | 1391 | E>D | No |
ExAC gnomAD |
|
| rs1464620153 | 1393 | E>K | No | gnomAD | |
| COSM4836282 | 1393 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073357260 | 1394 | E>* | No | gnomAD | |
| rs1282377632 | 1394 | E>V | No |
TOPMed gnomAD |
|
|
rs2142295252 RCV002273632 |
1395 | A>D | No |
ClinVar Ensembl dbSNP |
|
| rs2073357063 | 1396 | K>E | No | TOPMed | |
| rs772840544 | 1399 | L>M | No |
ExAC TOPMed gnomAD |
|
| rs2142294307 | 1400 | A>P | No | Ensembl | |
| rs1597448800 | 1401 | Q>H | No | Ensembl | |
|
COSM4141976 rs150968280 |
1402 | R>W | ovary [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 1403 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1567728182 | 1403 | L>Q | No | Ensembl | |
| rs199632177 | 1405 | A>T | No |
ExAC TOPMed gnomAD |
|
| COSM3513928 | 1407 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1520119 | 1407 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1597448767 | 1408 | E>G | No | Ensembl | |
| TCGA novel | 1409 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073345529 | 1412 | A>T | No | gnomAD | |
|
COSM3513927 rs758731740 |
1412 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs2073345364 | 1413 | V>M | No | TOPMed | |
| rs1197038834 | 1415 | A>V | No |
TOPMed gnomAD |
|
| rs1597448742 | 1417 | C>Y | No | Ensembl | |
| rs1275042202 | 1418 | A>V | No | gnomAD | |
| rs565991898 | 1422 | K>* | No | Ensembl | |
| COSM705092 | 1423 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs766369030 | 1423 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs547687486 | 1425 | Q>E | No | Ensembl | |
| rs772223576 | 1426 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs772223576 | 1426 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1442134170 | 1428 | Q>E | No | gnomAD | |
| rs1597448702 | 1429 | N>K | No | Ensembl | |
| COSM705093 | 1430 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1597448688 | 1431 | V>G | No | Ensembl | |
| COSM6080119 | 1432 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1370113654 | 1433 | D>N | No | Ensembl | |
| rs779958975 | 1434 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs779958975 | 1434 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs746306674 | 1435 | M>L | No |
ExAC gnomAD |
|
| rs746306674 | 1435 | M>V | No |
ExAC gnomAD |
|
| rs2073343971 | 1436 | L>F | No | TOPMed | |
| TCGA novel | 1436 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1239094174 | 1437 | D>E | No | gnomAD | |
| rs2073343939 | 1437 | D>V | No | TOPMed | |
| TCGA novel | 1438 | V>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1597448658 | 1440 | R>K | No | gnomAD | |
| rs1597448658 | 1440 | R>T | No | gnomAD | |
| TCGA novel | 1441 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2142294038 | 1443 | A>P | No | Ensembl | |
|
rs780957736 COSM367171 |
1443 | A>V | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1229922344 | 1445 | C>R | No |
TOPMed gnomAD |
|
| rs1229922344 | 1445 | C>S | No |
TOPMed gnomAD |
|
| rs765747036 | 1447 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs765747036 | 1447 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs762951575 | 1448 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs762951575 | 1448 | L>I | No |
ExAC TOPMed gnomAD |
|
| COSM6145588 | 1449 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs144481981 | 1450 | K>E | No | ESP | |
| rs2073343240 | 1454 | N>D | No | TOPMed | |
| rs1334768610 | 1456 | D>G | No | gnomAD | |
| TCGA novel | 1457 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM705094 | 1458 | I>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1458 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1451858078 | 1458 | I>V | No | gnomAD | |
| rs148693677 | 1460 | A>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2073341506 | 1461 | E>G | No | TOPMed | |
| rs1383258246 | 1461 | E>K | No |
TOPMed gnomAD |
|
| rs1383258246 | 1461 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
COSM2925290 COSM3513925 |
1462 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1245033619 | 1464 | Q>H | No |
TOPMed gnomAD |
|
| TCGA novel | 1466 | C>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073341413 | 1466 | C>R | No | TOPMed | |
| rs2073341376 | 1466 | C>W | No | gnomAD | |
| COSM3513924 | 1467 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4063865 | 1468 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs763808529 | 1468 | E>G | No |
ExAC gnomAD |
|
|
COSM3889256 rs866748337 |
1468 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs377046654 | 1470 | H>Y | No |
ESP TOPMed |
|
| rs774528127 | 1472 | E>D | No |
ExAC gnomAD |
|
| rs759516654 | 1472 | E>K | No |
ExAC gnomAD |
|
| rs1313498386 | 1474 | E>* | No |
TOPMed gnomAD |
|
| rs1313498386 | 1474 | E>K | No |
TOPMed gnomAD |
|
| rs1313498386 | 1474 | E>Q | No |
TOPMed gnomAD |
|
| COSM1479219 | 1475 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1294938712 | 1477 | Q>H | No | gnomAD | |
| rs749747608 | 1478 | K>E | No |
ExAC gnomAD |
|
| COSM3513923 | 1479 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1303566428 | 1480 | A>G | No |
TOPMed gnomAD |
|
| rs773727144 | 1480 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs199751037 | 1481 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs537925112 | 1483 | L>V | No |
1000Genomes ExAC gnomAD |
|
| rs1372053935 | 1484 | G>D | No | gnomAD | |
| rs1190321116 | 1485 | T>P | No |
TOPMed gnomAD |
|
| rs2073340314 | 1486 | E>G | No | TOPMed | |
|
rs1252661708 COSM352628 |
1487 | L>M | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| TCGA novel | 1487 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073340184 | 1489 | K>R | No | Ensembl | |
| rs149363769 | 1490 | I>T | No |
ESP ExAC gnomAD |
|
| rs1597448423 | 1491 | K>R | No | Ensembl | |
| rs1034624770 | 1493 | A>D | No |
TOPMed gnomAD |
|
| rs909204055 | 1493 | A>S | No | TOPMed | |
| rs909204055 | 1493 | A>T | No | TOPMed | |
| rs1290009947 | 1495 | E>V | No |
TOPMed gnomAD |
|
| rs267604719 | 1496 | E>K | No | Ensembl | |
| rs778352424 | 1497 | S>T | No |
ExAC gnomAD |
|
| rs1250845278 | 1500 | Q>H | No |
TOPMed gnomAD |
|
| rs757189497 | 1501 | L>P | No |
ExAC gnomAD |
|
| rs2073339707 | 1501 | L>V | No | Ensembl | |
| TCGA novel | 1505 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM84374 | 1506 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1395598973 | 1509 | K>R | No | gnomAD | |
| rs1467089006 | 1511 | L>F | No |
TOPMed gnomAD |
|
| rs1286711473 | 1512 | Q>* | No |
TOPMed gnomAD |
|
| rs1286711473 | 1512 | Q>E | No |
TOPMed gnomAD |
|
| COSM975344 | 1512 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3513921 | 1514 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073337877 | 1515 | I>L | No | TOPMed | |
| TCGA novel | 1515 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1335479073 | 1515 | I>T | No | gnomAD | |
| rs2073337690 | 1517 | D>G | No | TOPMed | |
| rs1387552972 | 1517 | D>N | No | gnomAD | |
| rs777536204 | 1518 | L>F | No |
ExAC gnomAD |
|
| rs777536204 | 1518 | L>V | No |
ExAC gnomAD |
|
|
rs138796340 COSM321861 |
1519 | T>K | lung [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs370528852 | 1520 | E>G | No |
ESP TOPMed gnomAD |
|
| rs1241717990 | 1520 | E>K | No |
TOPMed gnomAD |
|
| rs146102144 | 1521 | Q>E | No |
ESP TOPMed |
|
| rs2073337384 | 1522 | I>T | No | Ensembl | |
| rs1418331078 | 1523 | A>E | No |
TOPMed gnomAD |
|
| rs1418331078 | 1523 | A>G | No |
TOPMed gnomAD |
|
| rs1444622651 | 1524 | E>K | No |
TOPMed gnomAD |
|
| TCGA novel | 1525 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073337118 | 1526 | G>E | No | TOPMed | |
| rs751820899 | 1526 | G>R | No |
ExAC gnomAD |
|
| rs2073336882 | 1530 | H>Y | No | Ensembl | |
| rs1383365699 | 1531 | E>K | No | gnomAD | |
| rs765685386 | 1531 | E>V | No |
ExAC TOPMed gnomAD |
|
| rs2073336648 | 1534 | K>E | No |
TOPMed gnomAD |
|
| rs2073336586 | 1536 | K>N | No | TOPMed | |
|
COSM975342 rs1338979394 |
1536 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs201446773 | 1537 | K>R | No | 1000Genomes | |
| rs2073336416 | 1538 | Q>E | No | Ensembl | |
| COSM4398246 | 1540 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073336380 | 1541 | Q>* | No | TOPMed | |
| rs762340171 | 1541 | Q>R | No |
ExAC gnomAD |
|
| rs2073336310 | 1542 | E>G | No | TOPMed | |
| rs1212967204 | 1544 | C>R | No | TOPMed | |
| rs1399750680 | 1545 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2073336192 | 1545 | E>K | No | Ensembl | |
| rs1280851724 | 1547 | Q>* | No | TOPMed | |
| rs947669039 | 1548 | A>S | No |
TOPMed gnomAD |
|
| rs2073335908 | 1549 | A>T | No | Ensembl | |
| rs1446976479 | 1549 | A>V | No | gnomAD | |
| COSM705095 | 1550 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073335787 | 1550 | L>S | No | Ensembl | |
| rs1567727764 | 1551 | E>* | No | gnomAD | |
| rs1567727764 | 1551 | E>K | No | gnomAD | |
|
RCV001774657 rs2142293115 |
1552 | E>A | No |
ClinVar Ensembl dbSNP |
|
| rs2073335672 | 1552 | E>D | No | TOPMed | |
| rs1183085973 | 1553 | A>E | No | gnomAD | |
| rs1183085973 | 1553 | A>G | No | gnomAD | |
| rs1466573217 | 1554 | E>V | No |
TOPMed gnomAD |
|
| rs777300577 | 1555 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs769626690 | 1556 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs2142292920 | 1557 | L>H | No | Ensembl | |
| COSM4063863 | 1557 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073333744 | 1561 | E>A | No | Ensembl | |
| rs748063533 | 1561 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| COSM6080120 | 1562 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM975341 | 1563 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1366557967 | 1564 | I>V | No | gnomAD | |
| rs529367667 | 1566 | R>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2073333224 | 1568 | Q>R | No | Ensembl | |
|
COSM1258444 rs2073333182 |
1570 | E>A | oesophagus [Cosmic] | No |
cosmic curated TOPMed |
| rs751871589 | 1570 | E>D | No |
ExAC gnomAD |
|
| rs780401682 | 1571 | L>M | No |
ExAC TOPMed gnomAD |
|
|
rs780401682 COSM1258448 |
1571 | L>V | oesophagus [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs2073333053 | 1571 | L>W | No | Ensembl | |
| rs2073333007 | 1573 | Q>R | No |
TOPMed gnomAD |
|
| TCGA novel | 1575 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs113713308 | 1575 | K>R | No |
ExAC TOPMed gnomAD |
|
|
rs2073332790 TCGA novel |
1576 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| TCGA novel | 1576 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1490463043 | 1578 | V>F | No |
TOPMed gnomAD |
|
| rs2073332663 | 1578 | V>G | No | TOPMed | |
| rs1490463043 | 1578 | V>I | No |
TOPMed gnomAD |
|
| rs1597448060 | 1579 | D>G | No | Ensembl | |
| COSM975340 | 1579 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM975339 | 1581 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1220234241 | 1582 | I>S | No | gnomAD | |
| rs762238670 | 1583 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs754354134 | 1584 | E>K | No |
ExAC gnomAD |
|
| TCGA novel | 1586 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3513916 | 1587 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073332320 | 1588 | E>A | No | TOPMed | |
| TCGA novel | 1588 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1592 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1380811 rs760992993 |
1594 | R>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| COSM3513915 | 1594 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1366420030 | 1596 | H>Y | No | TOPMed | |
| rs1403653376 | 1601 | E>A | No | gnomAD | |
| rs1302912256 | 1601 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| COSM4063861 | 1602 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs897862046 | 1603 | M>T | No |
TOPMed gnomAD |
|
| rs2073331769 | 1603 | M>V | No | Ensembl | |
| rs781155016 | 1604 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs772613828 | 1604 | Q>K | No |
ExAC gnomAD |
|
| rs769335779 | 1604 | Q>R | No |
ExAC TOPMed gnomAD |
|
| COSM6145589 | 1605 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2142292676 | 1605 | S>T | No | Ensembl | |
| COSM6145590 | 1607 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1428350110 | 1608 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs779953763 | 1609 | A>V | No |
ExAC gnomAD |
|
| rs1481593335 | 1610 | E>D | No | gnomAD | |
| rs2073331173 | 1611 | I>F | No | TOPMed | |
| rs1230375084 | 1611 | I>T | No | Ensembl | |
| rs1203706728 | 1612 | R>K | No | gnomAD | |
| TCGA novel | 1613 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1264457245 | 1614 | R>K | No | gnomAD | |
| rs2073330867 | 1616 | D>G | No | Ensembl | |
| COSM975338 | 1616 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778916706 | 1617 | A>T | No |
ExAC gnomAD |
|
| rs2073330749 | 1619 | R>G | No | Ensembl | |
|
COSM313026 rs2073330711 |
1619 | R>M | lung [Cosmic] | No |
cosmic curated TOPMed |
| COSM3513914 | 1620 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754340163 | 1621 | K>* | No |
ExAC gnomAD |
|
| rs754340163 | 1621 | K>E | No |
ExAC gnomAD |
|
| TCGA novel | 1621 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4063859 | 1622 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs530498082 | 1623 | K>N | No | gnomAD | |
| rs756560593 | 1624 | M>I | No |
ExAC gnomAD |
|
| rs764558230 | 1624 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs2073330427 | 1625 | E>K | No | TOPMed | |
| rs753068723 | 1627 | D>E | No |
ExAC gnomAD |
|
| rs1478228740 | 1627 | D>G | No |
TOPMed gnomAD |
|
| rs1851430465 | 1628 | L>R | No | TOPMed | |
|
rs2142292538 RCV001757902 |
1629 | N>D | No |
ClinVar Ensembl dbSNP |
|
| rs767815198 | 1629 | N>S | No |
ExAC gnomAD |
|
| TCGA novel | 1630 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3513913 | 1632 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1597447954 COSM1380808 |
1634 | Q>H | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| COSM705096 | 1634 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1338712831 | 1636 | N>T | No | gnomAD | |
| TCGA novel | 1637 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073330109 | 1638 | A>D | No | TOPMed | |
|
COSM6080121 COSM559851 rs772914345 |
1640 | R>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs368940079 | 1641 | M>L | No |
ESP gnomAD |
|
| rs1408403055 | 1642 | A>T | No |
TOPMed gnomAD |
|
| rs764696132 | 1643 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1012216225 | 1644 | E>G | No |
TOPMed gnomAD |
|
| rs1056001463 | 1646 | L>V | No |
TOPMed gnomAD |
|
| rs2142292460 | 1647 | R>K | No | Ensembl | |
| rs372577120 | 1648 | N>D | No |
ESP ExAC |
|
| rs2073329552 | 1648 | N>S | No | Ensembl | |
| rs372577120 | 1648 | N>Y | No |
ESP ExAC |
|
| rs977201503 | 1650 | R>K | No | Ensembl | |
| rs1260815308 | 1651 | N>Y | No | gnomAD | |
| COSM5673128 | 1656 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs201440612 | 1656 | L>P | No | 1000Genomes | |
| COSM4990939 | 1657 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1567727491 | 1657 | K>T | No | Ensembl | |
|
COSM109850 rs150812517 |
1658 | D>N | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 1659 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073326693 | 1660 | Q>K | No | Ensembl | |
| rs201263691 | 1661 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs867066856 COSM3513909 |
1662 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs1451301582 | 1664 | D>N | No | gnomAD | |
| rs773964603 | 1666 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs771212882 | 1667 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs771212882 | 1667 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs143022667 | 1668 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1597447788 | 1669 | S>R | No | Ensembl | |
| rs1597447791 | 1669 | S>T | No | Ensembl | |
| COSM705097 | 1670 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1670 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM705099 | 1671 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1567727403 | 1673 | L>V | No | Ensembl | |
| TCGA novel | 1674 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM5882804 | 1675 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1030177193 | 1676 | Q>E | No |
TOPMed gnomAD |
|
| rs1255357200 | 1677 | L>V | No | Ensembl | |
| rs367873267 | 1678 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1429353059 | 1679 | M>I | No |
TOPMed gnomAD |
|
| rs780216182 | 1679 | M>V | No | ExAC | |
| rs1371444497 | 1681 | E>V | No | Ensembl | |
|
rs568249919 COSM1380805 |
1682 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| COSM6145593 | 1682 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1466156690 | 1684 | A>D | No |
TOPMed gnomAD |
|
| rs1466156690 | 1684 | A>V | No |
TOPMed gnomAD |
|
| rs2073325119 | 1685 | N>D | No | Ensembl | |
| rs760227750 | 1685 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs796521686 | 1686 | L>M | No |
TOPMed gnomAD |
|
| rs752728133 | 1689 | A>V | No |
ExAC gnomAD |
|
| rs1295192706 | 1690 | E>* | No | gnomAD | |
| rs2073324908 | 1691 | I>F | No | Ensembl | |
| rs774213421 | 1692 | E>* | No |
ExAC gnomAD |
|
|
rs774213421 COSM225381 |
1692 | E>K | NS [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs770623563 | 1693 | E>A | No |
ExAC TOPMed gnomAD |
|
| rs770623563 | 1693 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs770623563 | 1693 | E>V | No |
ExAC TOPMed gnomAD |
|
| rs1299403001 | 1694 | L>R | No | gnomAD | |
| rs528532960 | 1695 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM2925263 rs2073324639 |
1695 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs1467749635 | 1696 | A>T | No | gnomAD | |
|
CA398119315 RCV000493167 rs1131691624 |
1697 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1431921301 | 1699 | E>G | No | gnomAD | |
| rs1210453154 | 1700 | Q>R | No | Ensembl | |
| rs748252077 | 1702 | E>D | No | ExAC | |
| COSM3513908 | 1702 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6080122 | 1702 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1704 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1567727282 | 1704 | S>N | No | Ensembl | |
| rs1567727282 | 1704 | S>T | No | Ensembl | |
| rs141243548 | 1705 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs372962507 | 1705 | R>K | No |
ESP ExAC gnomAD |
|
| rs147813930 | 1708 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs267604716 | 1709 | E>K | No | Ensembl | |
| rs1180452225 | 1710 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| COSM6145594 | 1711 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073323564 | 1711 | E>G | No | Ensembl | |
| rs945814151 | 1712 | L>H | No | Ensembl | |
| rs375412003 | 1713 | L>P | No | ESP | |
| rs777543095 | 1714 | D>E | No |
ExAC TOPMed gnomAD |
|
|
COSM1216194 rs1200237383 |
1714 | D>N | large_intestine [Cosmic] | No |
cosmic curated TOPMed |
| rs1329111988 | 1715 | A>G | No | gnomAD | |
|
RCV001579519 rs2073323301 |
1716 | S>R | No |
ClinVar Ensembl dbSNP |
|
| rs1161860650 | 1718 | R>C | No | TOPMed | |
| rs1161860650 | 1718 | R>G | No | TOPMed | |
| rs752282524 | 1719 | V>I | No |
ExAC gnomAD |
|
| rs2073323120 | 1720 | Q>* | No | TOPMed | |
| TCGA novel | 1720 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs766868420 | 1723 | H>N | No |
ExAC gnomAD |
|
| rs202050465 | 1724 | T>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2073316064 | 1728 | S>G | No | TOPMed | |
| COSM975336 | 1728 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs762078494 | 1729 | L>V | No |
ExAC gnomAD |
|
| TCGA novel | 1730 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1730 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1286090396 | 1731 | N>D | No | gnomAD | |
| rs2073315837 | 1731 | N>K* | No | Ensembl | |
| rs1403179247 | 1733 | K>N | No |
TOPMed gnomAD |
|
| rs2073315723 | 1733 | K>R | No | TOPMed | |
| rs764273363 | 1734 | K>R | No |
ExAC gnomAD |
|
| rs749530672 | 1736 | L>P | No | Ensembl | |
| rs1248040888 | 1738 | T>I | No | gnomAD | |
| rs1382974531 | 1739 | D>H | No |
TOPMed gnomAD |
|
| rs775586737 | 1739 | D>V | No |
ExAC gnomAD |
|
| TCGA novel | 1739 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1041659942 | 1740 | I>T | No |
TOPMed gnomAD |
|
| COSM1709879 | 1741 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073315307 | 1741 | S>P | No | Ensembl | |
|
COSM6145595 rs2142291080 COSM1520128 |
1742 | Q>K | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
| rs1042299 | 1743 | M>I | No |
TOPMed gnomAD |
|
| COSM3513906 | 1745 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2073315126 COSM1709878 |
1745 | G>R | skin [Cosmic] | No |
cosmic curated Ensembl |
|
TCGA novel rs1378281348 |
1746 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| COSM3513905 | 1747 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs774865782 | 1747 | M>R | No |
ExAC TOPMed gnomAD |
|
| COSM4063857 | 1748 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs867209541 | 1749 | D>N | No | Ensembl | |
| rs2073314956 | 1750 | I>V | No | TOPMed | |
| rs1062507 | 1751 | L>I | No | Ensembl | |
| rs771420152 | 1751 | L>P | No |
ExAC gnomAD |
|
|
rs201117690 COSM321862 |
1752 | Q>* | lung [Cosmic] | No |
cosmic curated 1000Genomes |
| rs2073314725 | 1754 | A>T | No | Ensembl | |
| rs144414607 | 1755 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs2073314501 | 1756 | N>D | No | TOPMed | |
| rs1162667363 | 1756 | N>S | No |
TOPMed gnomAD |
|
| COSM705102 | 1757 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073314336 | 1758 | E>* | No | Ensembl | |
| rs746531953 | 1758 | E>A | No |
ExAC gnomAD |
|
| TCGA novel | 1759 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1194141410 | 1761 | A>T | No |
TOPMed gnomAD |
|
| rs2073314127 | 1762 | K>R | No | TOPMed | |
| rs765082463 | 1764 | A>P | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1765 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754137646 | 1766 | T>A | No |
ExAC gnomAD |
|
| TCGA novel | 1767 | D>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs570876808 | 1767 | D>N | No |
1000Genomes ExAC gnomAD |
|
|
rs562803081 COSM5760965 |
1768 | A>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| COSM975335 | 1768 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1770 | M>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757168303 | 1770 | M>V | No |
ExAC gnomAD |
|
| rs1204210134 | 1773 | E>K | No |
TOPMed gnomAD |
|
| COSM4063856 | 1776 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777553112 | 1776 | K>N | No |
ExAC gnomAD |
|
| rs867958590 | 1778 | E>* | No |
TOPMed gnomAD |
|
| rs867958590 | 1778 | E>K | No |
TOPMed gnomAD |
|
| rs2073312002 | 1780 | D>N | No | TOPMed | |
| COSM705103 | 1780 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs561877424 | 1782 | S>R | No |
1000Genomes ExAC gnomAD |
|
| rs751645184 | 1783 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs751645184 | 1783 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2073311664 | 1785 | L>M | No | gnomAD | |
| rs1471086746 | 1785 | L>R | No | gnomAD | |
|
COSM975334 rs140762786 |
1787 | R>W | endometrium [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs775090913 TCGA novel |
1788 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
| rs1203874843 | 1788 | M>K | No | gnomAD | |
| rs1203874843 | 1788 | M>T | No | gnomAD | |
| rs2073311244 | 1789 | K>* | No | Ensembl | |
| rs771618838 | 1789 | K>N | No |
ExAC gnomAD |
|
| COSM705104 | 1791 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1207552767 | 1792 | M>R | No |
TOPMed gnomAD |
|
| rs2073311127 | 1792 | M>V | No | gnomAD | |
| rs1376084938 | 1794 | Q>E | No | gnomAD | |
| rs778350338 | 1796 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs1374716922 | 1797 | K>R | No |
TOPMed gnomAD |
|
| COSM1709876 | 1798 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs770774858 | 1798 | D>Y | No |
ExAC gnomAD |
|
| rs2073310754 | 1800 | Q>* | No | Ensembl | |
| rs749188513 | 1800 | Q>P | No |
ExAC gnomAD |
|
| rs1358371509 | 1801 | L>H | No | gnomAD | |
| rs1358371509 | 1801 | L>R | No | gnomAD | |
| rs1408561145 | 1804 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| TCGA novel | 1805 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6145597 | 1805 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073310462 | 1805 | E>G | No | TOPMed | |
| rs1437323002 | 1806 | A>G | No | gnomAD | |
| COSM472281 | 1808 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1808 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1567726766 | 1810 | A>V | No | Ensembl | |
| rs1183883416 | 1813 | G>C | No |
TOPMed gnomAD |
|
| rs1183883416 | 1813 | G>R | No |
TOPMed gnomAD |
|
| rs1597447214 | 1814 | G>A | No | Ensembl | |
| rs781591446 | 1814 | G>R | No |
ExAC gnomAD |
|
| rs2073310076 | 1816 | K>Q | No | TOPMed | |
| rs1029101729 | 1817 | Q>E | No | Ensembl | |
| rs755214642 | 1822 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs751694440 | 1823 | A>S | No |
ExAC gnomAD |
|
| rs751694440 | 1823 | A>T | No |
ExAC gnomAD |
|
| COSM6080124 | 1824 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073308503 | 1825 | V>L | No | Ensembl | |
| rs780065259 | 1827 | E>K | No |
ExAC gnomAD |
|
| rs1161405862 | 1831 | E>A | No | gnomAD | |
| rs1001791781 | 1832 | V>D | No |
TOPMed gnomAD |
|
| rs1048137112 | 1833 | E>D | No | gnomAD | |
| rs193069934 | 1833 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes NCI-TCGA |
| rs574872443 | 1834 | S>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM4827384 | 1836 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs930969999 | 1837 | K>N | No | Ensembl | |
| rs368695212 | 1838 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs117081954 | 1838 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs368695212 | 1838 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs759241457 | 1839 | N>S | No |
ExAC gnomAD |
|
| COSM1286427 | 1840 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2073307715 | 1840 | A>V | No | Ensembl | |
| rs377255645 | 1842 | A>D | No |
ESP TOPMed gnomAD |
|
|
rs377255645 RCV002248022 |
1842 | A>G | No |
ClinVar ESP TOPMed dbSNP gnomAD |
|
| rs377255645 | 1842 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
| rs1172155155 | 1843 | V>A | No |
TOPMed gnomAD |
|
| rs1366193751 | 1843 | V>L | No |
TOPMed gnomAD |
|
| TCGA novel | 1844 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2073307594 | 1845 | G>V | No | TOPMed | |
| rs748605415 | 1847 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1193343328 | 1850 | E>K | No |
TOPMed gnomAD |
|
| rs756571003 | 1852 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs769778269 | 1852 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1597447091 | 1853 | V>G | No | Ensembl | |
| COSM3513902 | 1855 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1488236141 | 1856 | L>V | No | gnomAD | |
| rs2073307138 | 1857 | T>I | No | gnomAD | |
| rs2073307138 | 1857 | T>S | No | gnomAD | |
| rs1263747590 | 1858 | Y>* | No | gnomAD | |
| rs2142290179 | 1858 | Y>C | No | Ensembl | |
| rs761795343 | 1860 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM5731689 rs148724880 |
1860 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs749966733 | 1861 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1470744409 | 1862 | E>K | No | gnomAD | |
| rs1404817376 | 1864 | R>I | No | gnomAD | |
| COSM559857 | 1865 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1466008889 | 1866 | N>S | No | gnomAD | |
| rs2142289973 | 1867 | I>N | No | Ensembl | |
| rs2073304865 | 1867 | I>V | No | Ensembl | |
| COSM975332 | 1868 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs113249641 | 1869 | R>G | No | Ensembl | |
| rs761910036 | 1869 | R>T | No |
ExAC gnomAD |
|
| COSM3513901 | 1870 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs867629527 | 1870 | L>I | No | Ensembl | |
| rs535189182 | 1871 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1177012967 | 1872 | D>N | No | gnomAD | |
| rs1177012967 | 1872 | D>Y | No | gnomAD | |
| COSM6145599 | 1873 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs972983125 | 1873 | L>V | No |
TOPMed gnomAD |
|
| rs113701085 | 1874 | V>A | No | Ensembl | |
| rs2073304294 | 1874 | V>I | No | Ensembl | |
| rs1364758773 | 1875 | D>G | No |
TOPMed gnomAD |
|
| rs1199613300 | 1878 | Q>R | No | gnomAD | |
| rs1200851189 | 1879 | A>E | No |
TOPMed gnomAD |
|
| rs570870305 | 1879 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1200851189 | 1879 | A>V | No |
TOPMed gnomAD |
|
| rs772343330 | 1881 | V>G | No |
ExAC gnomAD |
|
| rs775106499 | 1881 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs2073303958 | 1884 | Y>D | No | TOPMed | |
| rs779103482 | 1884 | Y>F | No |
ExAC gnomAD |
|
| rs770991174 | 1886 | R>G | No |
ExAC TOPMed gnomAD |
|
| COSM975331 | 1886 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs989231061 | 1888 | A>S | No |
TOPMed gnomAD |
|
| rs2073303790 | 1889 | E>G | No |
TOPMed gnomAD |
|
| rs2073303790 | 1889 | E>V | No |
TOPMed gnomAD |
|
| rs1395862858 | 1890 | E>D | No | gnomAD | |
| COSM6145600 | 1890 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1891 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2142287853 | 1892 | E>D | No | Ensembl | |
| rs1038752889 | 1893 | E>G | No |
TOPMed gnomAD |
|
| rs1407191404 | 1895 | S>C | No | gnomAD | |
| rs1471900158 | 1898 | N>S | No | gnomAD | |
| rs1194067698 | 1901 | K>E | No | gnomAD | |
| rs770302436 | 1903 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1224592279 | 1904 | K>E | No | gnomAD | |
| rs1451747510 | 1904 | K>N | No | gnomAD | |
| rs1597446364 | 1905 | L>F | No | TOPMed | |
| rs2073282468 | 1905 | L>P | No |
TOPMed gnomAD |
|
| rs1207699689 | 1907 | H>P | No |
TOPMed gnomAD |
|
| rs540626030 | 1907 | H>Q | No |
1000Genomes ExAC gnomAD |
|
| rs1207699689 | 1907 | H>R | No |
TOPMed gnomAD |
|
| rs1288517209 | 1907 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1219683499 | 1909 | L>R | No | gnomAD | |
| rs1280511558 | 1909 | L>V | No | gnomAD | |
| rs1276936992 | 1910 | E>G | No | gnomAD | |
| rs781669630 | 1910 | E>K | No |
ExAC gnomAD |
|
| rs1224299951 | 1911 | E>V | No | gnomAD | |
| rs2073282111 | 1912 | A>V | No |
TOPMed gnomAD |
|
| rs1350545511 | 1913 | E>* | No |
TOPMed gnomAD |
|
| rs2073281940 | 1914 | E>K | No | Ensembl | |
| rs2073281940 | 1914 | E>Q | No | Ensembl | |
| rs2073281750 | 1916 | A>G | No | Ensembl | |
| COSM3513899 | 1916 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1051054791 RCV000658130 |
1917 | D>N | No |
ClinVar Ensembl dbSNP |
|
| rs2142287694 | 1918 | I>V | No | Ensembl | |
| rs1421186490 | 1923 | V>L | No | gnomAD | |
| rs199616922 | 1924 | N>S | No | 1000Genomes | |
| rs189923122 | 1925 | K>N | No |
1000Genomes ExAC gnomAD |
|
| rs756130400 | 1926 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs767382926 | 1927 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs774094243 | 1928 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs199759109 | 1932 | E>K | No | Ensembl | |
| rs1368859006 | 1934 | H>P | No | gnomAD | |
| rs2142287587 | 1937 | V>I | No | Ensembl | |
| COSM1324182 | 1938 | I>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs769758368 | 1938 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| COSM6145603 | 1939 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1567725520 | 1940 | E>K | No | Ensembl |
No associated diseases with Q9UKX2
8 regional properties for Q9UKX2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 662 - 790 | IPR000008 |
| domain | Phosphatidylinositol-specific phospholipase C, X domain | 312 - 464 | IPR000909 |
| domain | Phospholipase C, phosphatidylinositol-specific, Y domain | 546 - 662 | IPR001711 |
| domain | Phospholipase C-beta, C-terminal domain | 979 - 1153 | IPR014815 |
| domain | Phosphoinositide-specific phospholipase C, EF-hand-like domain | 214 - 304 | IPR015359 |
| domain | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2, catalytic domain | 311 - 649 | IPR028403 |
| domain | PLC-beta, PH domain | 12 - 144 | IPR037862 |
| domain | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2, EF-hand domain | 149 - 299 | IPR046969 |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| 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. |
| muscle myosin complex | A filament of myosin found in a muscle cell of any type. |
| myofibril | The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism. |
| myosin filament | A supramolecular fiber containing myosin heavy chains, plus associated light chains and other proteins, in which the myosin heavy chains are arranged into a filament. |
| myosin II complex | A myosin complex containing two class II myosin heavy chains, two myosin essential light chains and two myosin regulatory light chains. Also known as classical myosin or conventional myosin, the myosin II class includes the major muscle myosin of vertebrate and invertebrate muscle, and is characterized by alpha-helical coiled coil tails that self assemble to form a variety of filament structures. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| sarcomere | The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| microfilament motor activity | A motor activity that generates movement along a microfilament, driven by ATP hydrolysis. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
| muscle filament sliding | The sliding of actin thin filaments and myosin thick filaments past each other in muscle contraction. This involves a process of interaction of myosin located on a thick filament with actin located on a thin filament. During this process ATP is split and forces are generated. |
46 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BE40 | MYH1 | Myosin-1 | Bos taurus (Bovine) | SS |
| Q27991 | MYH10 | Myosin-10 | Bos taurus (Bovine) | SS |
| Q9BE39 | MYH7 | Myosin-7 | Bos taurus (Bovine) | SS |
| Q9BE41 | MYH2 | Myosin-2 | Bos taurus (Bovine) | SS |
| P10587 | MYH11 | Myosin-11 | Gallus gallus (Chicken) | SS |
| P14105 | MYH9 | Myosin-9 | Gallus gallus (Chicken) | SS |
| P13538 | Myosin heavy chain, skeletal muscle, adult | Gallus gallus (Chicken) | SS | |
| P02565 | MYH1B | Myosin-1B | Gallus gallus (Chicken) | SS |
| Q99323 | zip | Myosin heavy chain, non-muscle | Drosophila melanogaster (Fruit fly) | SS |
| P05661 | Mhc | Myosin heavy chain, muscle | Drosophila melanogaster (Fruit fly) | SS |
| P11055 | MYH3 | Myosin-3 | Homo sapiens (Human) | SS |
| Q9Y623 | MYH4 | Myosin-4 | Homo sapiens (Human) | SS |
| P13535 | MYH8 | Myosin-8 | Homo sapiens (Human) | SS |
| P12882 | MYH1 | Myosin-1 | Homo sapiens (Human) | SS |
| Q9UKX3 | MYH13 | Myosin-13 | Homo sapiens (Human) | SS |
| P12883 | MYH7 | Myosin-7 | Homo sapiens (Human) | EV |
| P13533 | MYH6 | Myosin-6 | Homo sapiens (Human) | SS |
| A7E2Y1 | MYH7B | Myosin-7B | Homo sapiens (Human) | SS |
| Q9Y2K3 | MYH15 | Myosin-15 | Homo sapiens (Human) | SS |
| P35580 | MYH10 | Myosin-10 | Homo sapiens (Human) | SS |
| P35749 | MYH11 | Myosin-11 | Homo sapiens (Human) | SS |
| P35579 | MYH9 | Myosin-9 | Homo sapiens (Human) | SS |
| Q7Z406 | MYH14 | Myosin-14 | Homo sapiens (Human) | SS |
| Q8VDD5 | Myh9 | Myosin-9 | Mus musculus (Mouse) | SS |
| Q5SX39 | Myh4 | Myosin-4 | Mus musculus (Mouse) | SS |
| P13542 | Myh8 | Myosin-8 | Mus musculus (Mouse) | SS |
| Q02566 | Myh6 | Myosin-6 | Mus musculus (Mouse) | SS |
| O08638 | Myh11 | Myosin-11 | Mus musculus (Mouse) | SS |
| A2AQP0 | Myh7b | Myosin-7B | Mus musculus (Mouse) | SS |
| Q61879 | Myh10 | Myosin-10 | Mus musculus (Mouse) | SS |
| Q91Z83 | Myh7 | Myosin-7 | Mus musculus (Mouse) | SS |
| Q6URW6 | Myh14 | Myosin-14 | Mus musculus (Mouse) | SS |
| P13541 | Myh3 | Myosin-3 | Mus musculus (Mouse) | SS |
| Q5SX40 | Myh1 | Myosin-1 | Mus musculus (Mouse) | SS |
| P79293 | MYH7 | Myosin-7 | Sus scrofa (Pig) | SS |
| Q9TV63 | MYH2 | Myosin-2 | Sus scrofa (Pig) | SS |
| P12847 | Myh3 | Myosin-3 | Rattus norvegicus (Rat) | SS |
| P02563 | Myh6 | Myosin-6 | Rattus norvegicus (Rat) | SS |
| P02564 | Myh7 | Myosin-7 | Rattus norvegicus (Rat) | SS |
| Q62812 | Myh9 | Myosin-9 | Rattus norvegicus (Rat) | SS |
| Q29RW1 | Myh4 | Myosin-4 | Rattus norvegicus (Rat) | SS |
| Q9JLT0 | Myh10 | Myosin-10 | Rattus norvegicus (Rat) | SS |
| P02567 | myo-1 | Myosin-1 | Caenorhabditis elegans | SS |
| P02566 | unc-54 | Myosin-4 | Caenorhabditis elegans | SS |
| P12845 | myo-2 | Myosin-2 | Caenorhabditis elegans | SS |
| P12844 | myo-3 | Myosin-3 | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSDSELAVF | GEAAPFLRKS | ERERIEAQNR | PFDAKTSVFV | AEPKESFVKG | TIQSREGGKV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TVKTEGGATL | TVKDDQVFPM | NPPKYDKIED | MAMMTHLHEP | AVLYNLKERY | AAWMIYTYSG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LFCVTVNPYK | WLPVYKPEVV | TAYRGKKRQE | APPHIFSISD | NAYQFMLTDR | ENQSILITGE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SGAGKTVNTK | RVIQYFATIA | VTGEKKKEEI | TSGKIQGTLE | DQIISANPLL | EAFGNAKTVR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NDNSSRFGKF | IRIHFGTTGK | LASADIETYL | LEKSRVVFQL | KAERSYHIFY | QITSNKKPEL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IEMLLITTNP | YDYPFVSQGE | ISVASIDDQE | ELMATDSAID | ILGFTNEEKV | SIYKLTGAVM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HYGNLKFKQK | QREEQAEPDG | TEVADKAAYL | QSLNSADLLK | ALCYPRVKVG | NEYVTKGQTV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EQVSNAVGAL | AKAVYEKMFL | WMVARINQQL | DTKQPRQYFI | GVLDIAGFEI | FDFNSLEQLC |
| 490 | 500 | 510 | 520 | 530 | 540 |
| INFTNEKLQQ | FFNHHMFVLE | QEEYKKEGIE | WTFIDFGMDL | AACIELIEKP | MGIFSILEEE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| CMFPKATDTS | FKNKLYDQHL | GKSANFQKPK | VVKGKAEAHF | ALIHYAGVVD | YNITGWLEKN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KDPLNETVVG | LYQKSAMKTL | AQLFSGAQTA | EGEGAGGGAK | KGGKKKGSSF | QTVSALFREN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LNKLMTNLRS | THPHFVRCII | PNETKTPGAM | EHELVLHQLR | CNGVLEGIRI | CRKGFPSRIL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YADFKQRYKV | LNASAIPEGQ | FIDSKKASEK | LLASIDIDHT | QYKFGHTKVF | FKAGLLGLLE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EMRDDKLAQL | ITRTQARCRG | FLARVEYQRM | VERREAIFCI | QYNIRSFMNV | KHWPWMKLFF |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KIKPLLKSAE | TEKEMATMKE | EFQKIKDELA | KSEAKRKELE | EKMVTLLKEK | NDLQLQVQAE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| AEGLADAEER | CDQLIKTKIQ | LEAKIKEVTE | RAEDEEEINA | ELTAKKRKLE | DECSELKKDI |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| DDLELTLAKV | EKEKHATENK | VKNLTEEMAG | LDETIAKLTK | EKKALQEAHQ | QTLDDLQAEE |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| DKVNTLTKAK | IKLEQQVDDL | EGSLEQEKKL | RMDLERAKRK | LEGDLKLAQE | SIMDIENEKQ |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| QLDEKLKKKE | FEISNLQSKI | EDEQALGIQL | QKKIKELQAR | IEELEEEIEA | ERASRAKAEK |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| QRSDLSRELE | EISERLEEAG | GATSAQIEMN | KKREAEFQKM | RRDLEEATLQ | HEATAATLRK |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| KHADSVAELG | EQIDNLQRVK | QKLEKEKSEM | KMEIDDLASN | VETVSKAKGN | LEKMCRTLED |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| QLSELKSKEE | EQQRLINDLT | AQRGRLQTES | GEFSRQLDEK | EALVSQLSRG | KQAFTQQIEE |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| LKRQLEEEIK | AKNALAHALQ | SSRHDCDLLR | EQYEEEQESK | AELQRALSKA | NTEVAQWRTK |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| YETDAIQRTE | ELEEAKKKLA | QRLQAAEEHV | EAVNAKCASL | EKTKQRLQNE | VEDLMLDVER |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| TNAACAALDK | KQRNFDKILA | EWKQKCEETH | AELEASQKEA | RSLGTELFKI | KNAYEESLDQ |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| LETLKRENKN | LQQEISDLTE | QIAEGGKRIH | ELEKIKKQVE | QEKCELQAAL | EEAEASLEHE |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| EGKILRIQLE | LNQVKSEVDR | KIAEKDEEID | QLKRNHIRIV | ESMQSTLDAE | IRSRNDAIRL |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| KKKMEGDLNE | MEIQLNHANR | MAAEALRNYR | NTQGILKDTQ | IHLDDALRSQ | EDLKEQLAMV |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| ERRANLLQAE | IEELRATLEQ | TERSRKIAEQ | ELLDASERVQ | LLHTQNTSLI | NTKKKLETDI |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| SQMQGEMEDI | LQEARNAEEK | AKKAITDAAM | MAEELKKEQD | TSAHLERMKK | NMEQTVKDLQ |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| LRLDEAEQLA | LKGGKKQIQK | LEARVRELEG | EVESEQKRNA | EAVKGLRKHE | RRVKELTYQT |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| EEDRKNILRL | QDLVDKLQAK | VKSYKRQAEE | AEEQSNTNLA | KFRKLQHELE | EAEERADIAE |
| 1930 | 1940 | ||||
| SQVNKLRVKS | REVHTKVISE | E |