ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MUC5B

Gene summary

Gene information	Gene symbol	MUC5B
	Gene ID	727897
	Gene name	mucin 5B, oligomeric mucus/gel-forming
	Synonyms	MG1\|MUC-5B\|MUC5\|MUC9
	Cytomap	11p15.5
	Type of gene	protein-coding
	Description	mucin-5Bcervical mucin MUC5Bhigh molecular weight salivary mucin MG1mucin 5, subtype B, tracheobronchialsublingual gland mucin
	Modification date	20180519
	UniProtAcc	Q9HC84
	Context	PubMed: MUC5B [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene

GO ID

GO term

PubMed ID

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Exon skipping events across known transcript of Ensembl for MUC5B from UCSC genome browser

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Gene isoform structures and expression levels for MUC5B

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for MUC5B

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_55884	11	1246910:1246967:1247434:1247506:1247844:1248106	1247434:1247506	ENSG00000117983.13	ENST00000525715.1,ENST00000529681.1,ENST00000447027.1
exon_skip_55886	11	1250919:1251037:1251234:1251373:1251719:1251830	1251234:1251373	ENSG00000117983.13	ENST00000525715.1,ENST00000529681.1,ENST00000447027.1
exon_skip_55887	11	1261028:1261173:1261274:1261318:1261407:1261605	1261274:1261318	ENSG00000117983.13	ENST00000529681.1,ENST00000447027.1
exon_skip_55892	11	1261407:1261605:1262080:1272973:1273572:1273754	1262080:1272973	ENSG00000117983.13	ENST00000529681.1,ENST00000447027.1
exon_skip_55898	11	1275923:1276110:1276270:1276496:1276612:1276788	1276270:1276496	ENSG00000117983.13	ENST00000529681.1,ENST00000447027.1
exon_skip_55899	11	1278855:1278940:1279328:1279433:1279559:1279597	1279328:1279433	ENSG00000117983.13	ENST00000529681.1,ENST00000447027.1,ENST00000526859.1
exon_skip_55902	11	1279328:1279433:1279559:1279597:1280171:1280291	1279559:1279597	ENSG00000117983.13	ENST00000529681.1,ENST00000447027.1,ENST00000526859.1
exon_skip_55910	11	1279559:1279597:1280171:1280291:1280985:1281072	1280171:1280291	ENSG00000117983.13	ENST00000529681.1,ENST00000447027.1,ENST00000526859.1
exon_skip_55930	11	1281192:1281315:1281580:1281623:1281855:1281958	1281580:1281623	ENSG00000117983.13	ENST00000529681.1,ENST00000447027.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MUC5B

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_55887	11	1261028:1261173:1261274:1261318:1261407:1261605	1261274:1261318	ENSG00000117983.13	ENST00000529681.1,ENST00000447027.1
exon_skip_55892	11	1261407:1261605:1262080:1272973:1273572:1273754	1262080:1272973	ENSG00000117983.13	ENST00000529681.1,ENST00000447027.1
exon_skip_55898	11	1275923:1276110:1276270:1276496:1276612:1276788	1276270:1276496	ENSG00000117983.13	ENST00000529681.1,ENST00000447027.1
exon_skip_55899	11	1278855:1278940:1279328:1279433:1279559:1279597	1279328:1279433	ENSG00000117983.13	ENST00000529681.1,ENST00000447027.1,ENST00000526859.1
exon_skip_55902	11	1279328:1279433:1279559:1279597:1280171:1280291	1279559:1279597	ENSG00000117983.13	ENST00000529681.1,ENST00000447027.1,ENST00000526859.1
exon_skip_55910	11	1279559:1279597:1280171:1280291:1280985:1281072	1280171:1280291	ENSG00000117983.13	ENST00000529681.1,ENST00000447027.1,ENST00000526859.1
exon_skip_55930	11	1281192:1281315:1281580:1281623:1281855:1281958	1281580:1281623	ENSG00000117983.13	ENST00000529681.1,ENST00000447027.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for MUC5B

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000529681	1251234	1251373	Frame-shift
ENST00000529681	1261274	1261318	Frame-shift
ENST00000529681	1276270	1276496	Frame-shift
ENST00000529681	1279559	1279597	Frame-shift
ENST00000529681	1281580	1281623	Frame-shift
ENST00000529681	1247434	1247506	In-frame
ENST00000529681	1262080	1272973	In-frame
ENST00000529681	1279328	1279433	In-frame
ENST00000529681	1280171	1280291	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000529681	1261274	1261318	Frame-shift
ENST00000529681	1276270	1276496	Frame-shift
ENST00000529681	1279559	1279597	Frame-shift
ENST00000529681	1281580	1281623	Frame-shift
ENST00000529681	1262080	1272973	In-frame
ENST00000529681	1279328	1279433	In-frame
ENST00000529681	1280171	1280291	In-frame

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Infer the effects of exon skipping event on protein functional features for MUC5B

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000529681	17928	5762	1247434	1247506	186	257	42	66
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1279328	1279433	16509	16613	5483	5518
ENST00000529681	17928	5762	1280171	1280291	16652	16771	5531	5571

Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1262080	1272973	4029	14921	1323	4954
ENST00000529681	17928	5762	1279328	1279433	16509	16613	5483	5518
ENST00000529681	17928	5762	1280171	1280291	16652	16771	5531	5571

Lost protein functional features of individual exon skipping events in TCGA.

UniProt acc.

Start of exon skipping (AA)

End of exon skipping (AA)

Protein feature start (AA)

Protein feature end (AA)

Category of protein feature

Description of feature

Lost protein functional features of individual exon skipping events in GTEx.

UniProt acc.

Start of exon skipping (AA)

End of exon skipping (AA)

Protein feature start (AA)

Protein feature end (AA)

Category of protein feature

Description of feature

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SNVs in the skipped exons for MUC5B

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-G3-A3CJ-01	exon_skip_55892	1262081	1272973	1262146	1262146	Frame_Shift_Del	G	-	p.G1349fs
LIHC	TCGA-DD-A3A0-01	exon_skip_55892	1262081	1272973	1262191	1262191	Frame_Shift_Del	T	-	p.F1364fs
LIHC	TCGA-DD-A3A0-01	exon_skip_55892	1262081	1272973	1262318	1262318	Frame_Shift_Del	G	-	p.R1406fs
STAD	TCGA-BR-4184-01	exon_skip_55892	1262081	1272973	1262591	1262591	Frame_Shift_Del	C	-	p.T2187fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_55892	1262081	1272973	1263169	1263169	Frame_Shift_Del	G	-	p.G1690fs
LIHC	TCGA-DD-A3A0-01	exon_skip_55892	1262081	1272973	1263240	1263240	Frame_Shift_Del	C	-	p.R1713fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_55892	1262081	1272973	1263294	1263294	Frame_Shift_Del	C	-	p.R1731fs
LIHC	TCGA-DD-A4NB-01	exon_skip_55892	1262081	1272973	1263483	1263484	Frame_Shift_Del	AG	-	p.1791_1791del
LIHC	TCGA-DD-A4NB-01	exon_skip_55892	1262081	1272973	1263483	1263484	Frame_Shift_Del	AG	-	p.TE1794fs
LIHC	TCGA-DD-A3A0-01	exon_skip_55892	1262081	1272973	1263578	1263578	Frame_Shift_Del	G	-	p.W1826fs
LUAD	TCGA-55-8510-01	exon_skip_55892	1262081	1272973	1263910	1263910	Frame_Shift_Del	C	-	p.P1939fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_55892	1262081	1272973	1264295	1264295	Frame_Shift_Del	C	-	p.T2065fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_55892	1262081	1272973	1264554	1264554	Frame_Shift_Del	C	-	p.N2151fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_55892	1262081	1272973	1264672	1264672	Frame_Shift_Del	C	-	p.P2192fs
LIHC	TCGA-DD-A39Y-01	exon_skip_55892	1262081	1272973	1264823	1264823	Frame_Shift_Del	T	-	p.L2241fs
LUAD	TCGA-86-8585-01	exon_skip_55892	1262081	1272973	1264845	1264857	Frame_Shift_Del	CCAGCACTCGACT	-	p.TQHST2248fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_55892	1262081	1272973	1265289	1265289	Frame_Shift_Del	G	-	p.V2396fs
LIHC	TCGA-DD-A39Y-01	exon_skip_55892	1262081	1272973	1265400	1265400	Frame_Shift_Del	G	-	p.P2433fs
UCEC	TCGA-BG-A0MG-01	exon_skip_55892	1262081	1272973	1265592	1265592	Frame_Shift_Del	A	-	p.P2494fs
LUSC	TCGA-66-2785-01	exon_skip_55892	1262081	1272973	1265952	1265952	Frame_Shift_Del	G	-	p.T2614fs
STAD	TCGA-CG-5733-01	exon_skip_55892	1262081	1272973	1266053	1266053	Frame_Shift_Del	C	-	p.T2648fs
LIHC	TCGA-DD-A1EG-01	exon_skip_55892	1262081	1272973	1266225	1266225	Frame_Shift_Del	C	-	p.N2708fs
LIHC	TCGA-DD-A3A0-01	exon_skip_55892	1262081	1272973	1266225	1266225	Frame_Shift_Del	C	-	p.N2708fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_55892	1262081	1272973	1266225	1266225	Frame_Shift_Del	C	-	p.N2708fs
LIHC	TCGA-DD-A1EG-01	exon_skip_55892	1262081	1272973	1266343	1266343	Frame_Shift_Del	C	-	p.P2749fs
LIHC	TCGA-DD-A3A0-01	exon_skip_55892	1262081	1272973	1266549	1266549	Frame_Shift_Del	C	-	p.H2816fs
LIHC	TCGA-DD-A3A0-01	exon_skip_55892	1262081	1272973	1266765	1266765	Frame_Shift_Del	C	-	p.Y2888fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_55892	1262081	1272973	1266765	1266765	Frame_Shift_Del	C	-	p.Y2888fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_55892	1262081	1272973	1266872	1266872	Frame_Shift_Del	C	-	p.A2924fs
LIHC	TCGA-DD-A39Y-01	exon_skip_55892	1262081	1272973	1267023	1267023	Frame_Shift_Del	C	-	p.C2974fs
LIHC	TCGA-DD-A3A0-01	exon_skip_55892	1262081	1272973	1267023	1267023	Frame_Shift_Del	C	-	p.C2974fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_55892	1262081	1272973	1267023	1267023	Frame_Shift_Del	C	-	p.C2974fs
LIHC	TCGA-DD-A39Y-01	exon_skip_55892	1262081	1272973	1267324	1267324	Frame_Shift_Del	T	-	p.F3075fs
COAD	TCGA-A6-6780-01	exon_skip_55892	1262081	1272973	1267481	1267481	Frame_Shift_Del	C	-	p.T3124fs
STAD	TCGA-CG-5733-01	exon_skip_55892	1262081	1272973	1267481	1267481	Frame_Shift_Del	C	-	p.T3124fs
STAD	TCGA-HU-A4GN-01	exon_skip_55892	1262081	1272973	1267481	1267481	Frame_Shift_Del	C	-	p.T3124fs
UCEC	TCGA-AP-A0LT-01	exon_skip_55892	1262081	1272973	1267994	1267994	Frame_Shift_Del	C	-	p.T3295fs
HNSC	TCGA-F7-A624-01	exon_skip_55892	1262081	1272973	1268066	1268066	Frame_Shift_Del	C	-	p.T3322fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_55892	1262081	1272973	1268269	1268269	Frame_Shift_Del	C	-	p.P3391fs
COAD	TCGA-G4-6309-01	exon_skip_55892	1262081	1272973	1268355	1268355	Frame_Shift_Del	C	-	p.I3415fs
LIHC	TCGA-DD-A1EG-01	exon_skip_55892	1262081	1272973	1268355	1268355	Frame_Shift_Del	C	-	p.I3418fs
UCEC	TCGA-D1-A17D-01	exon_skip_55892	1262081	1272973	1268674	1268674	Frame_Shift_Del	C	-	p.P3522fs
LIHC	TCGA-DD-A1EG-01	exon_skip_55892	1262081	1272973	1269123	1269123	Frame_Shift_Del	C	-	p.C3674fs
LIHC	TCGA-DD-A1EG-01	exon_skip_55892	1262081	1272973	1269332	1269332	Frame_Shift_Del	C	-	p.A3744fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_55892	1262081	1272973	1269490	1269490	Frame_Shift_Del	T	-	p.F3797fs
BRCA	TCGA-D8-A142-01	exon_skip_55892	1262081	1272973	1269544	1269544	Frame_Shift_Del	A	-	p.T3815fs
UCEC	TCGA-D1-A0ZO-01	exon_skip_55892	1262081	1272973	1269665	1269665	Frame_Shift_Del	C	-	p.T3852fs
HNSC	TCGA-CN-5369-01	exon_skip_55892	1262081	1272973	1269737	1269737	Frame_Shift_Del	C	-	p.T4404fs
STAD	TCGA-CG-5721-01	exon_skip_55892	1262081	1272973	1269737	1269737	Frame_Shift_Del	C	-	p.T3876fs
STAD	TCGA-HF-7132-01	exon_skip_55892	1262081	1272973	1269737	1269737	Frame_Shift_Del	C	-	p.T3876fs
BRCA	TCGA-BH-A0HL-01	exon_skip_55892	1262081	1272973	1269750	1269750	Frame_Shift_Del	C	-	p.P3884fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_55892	1262081	1272973	1270114	1270114	Frame_Shift_Del	C	-	p.P4006fs
UCEC	TCGA-D1-A17H-01	exon_skip_55892	1262081	1272973	1270286	1270286	Frame_Shift_Del	C	-	p.Q4063fs
UCEC	TCGA-D1-A17H-01	exon_skip_55892	1262081	1272973	1270286	1270286	Frame_Shift_Del	C	-	p.T4059fs
LIHC	TCGA-DD-A3A0-01	exon_skip_55892	1262081	1272973	1270345	1270345	Frame_Shift_Del	C	-	p.P4083fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_55892	1262081	1272973	1270345	1270345	Frame_Shift_Del	C	-	p.P4083fs
UCEC	TCGA-D1-A17D-01	exon_skip_55892	1262081	1272973	1270345	1270345	Frame_Shift_Del	C	-	p.P4079fs
UCEC	TCGA-BS-A0UF-01	exon_skip_55892	1262081	1272973	1271222	1271222	Frame_Shift_Del	C	-	p.T4375fs
UCEC	TCGA-BS-A0UF-01	exon_skip_55892	1262081	1272973	1271225	1271226	Frame_Shift_Del	CG	-	p.T4375fs
STAD	TCGA-HU-A4GN-01	exon_skip_55892	1262081	1272973	1271252	1271252	Frame_Shift_Del	C	-	p.T4381fs
LIHC	TCGA-DD-A3A0-01	exon_skip_55892	1262081	1272973	1271438	1271438	Frame_Shift_Del	C	-	p.T4446fs
STAD	TCGA-CG-5733-01	exon_skip_55892	1262081	1272973	1271471	1271472	Frame_Shift_Del	GC	-	p.4454_4454del
KIRP	TCGA-A4-A57E-01	exon_skip_55892	1262081	1272973	1271547	1271547	Frame_Shift_Del	A	-	p.P4479fs
LUAD	TCGA-97-8176-01	exon_skip_55892	1262081	1272973	1271930	1271930	Frame_Shift_Del	C	-	p.S4611fs
COAD	TCGA-A6-6648-01	exon_skip_55892	1262081	1272973	1272114	1272115	Frame_Shift_Del	CT	-	p.4668_4668del
COAD	TCGA-AZ-6598-01	exon_skip_55892	1262081	1272973	1272226	1272226	Frame_Shift_Del	A	-	p.I4705fs
KIRP	TCGA-2Z-A9JM-01	exon_skip_55892	1262081	1272973	1272664	1272668	Frame_Shift_Del	AGCAC	-	p.4851_4853del
LIHC	TCGA-DD-A3A0-01	exon_skip_55892	1262081	1272973	1272961	1272961	Frame_Shift_Del	T	-	p.F4955fs
LIHC	TCGA-DD-A1EG-01	exon_skip_55898	1276271	1276496	1276448	1276448	Frame_Shift_Del	C	-	p.T5284fs
LIHC	TCGA-DD-A3A0-01	exon_skip_55898	1276271	1276496	1276461	1276461	Frame_Shift_Del	C	-	p.C5288fs
LIHC	TCGA-DD-A1EG-01	exon_skip_55899	1279329	1279433	1279348	1279348	Frame_Shift_Del	C	-	p.C5493fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_55899	1279329	1279433	1279348	1279348	Frame_Shift_Del	C	-	p.C5493fs
LIHC	TCGA-G3-AAV1-01	exon_skip_55899	1279329	1279433	1279360	1279376	Frame_Shift_Del	GCCTGTGTGCCCGCCAG	-	p.5494_5499del
LIHC	TCGA-DD-A3A0-01	exon_skip_55930	1281581	1281623	1281593	1281593	Frame_Shift_Del	A	-	p.K5649fs
STAD	TCGA-BR-8081-01	exon_skip_55886	1251235	1251373	1251244	1251245	Frame_Shift_Ins	-	G	p.S410fs
STAD	TCGA-BR-8081-01	exon_skip_55886	1251235	1251373	1251245	1251246	Frame_Shift_Ins	-	G	p.S410fs
STAD	TCGA-SW-A7EA-01	exon_skip_55892	1262081	1272973	1262090	1262091	Frame_Shift_Ins	-	C	p.P1330fs
KICH	TCGA-KO-8405-01	exon_skip_55892	1262081	1272973	1263525	1263526	Frame_Shift_Ins	-	G	p.G1805fs
KICH	TCGA-KL-8339-01	exon_skip_55892	1262081	1272973	1264078	1264079	Frame_Shift_Ins	-	C	p.T1990fs
KICH	TCGA-KL-8329-01	exon_skip_55892	1262081	1272973	1264086	1264087	Frame_Shift_Ins	-	C	p.W1992fs
COAD	TCGA-A6-5665-01	exon_skip_55892	1262081	1272973	1264716	1264717	Frame_Shift_Ins	-	C	p.L2202fs
UCEC	TCGA-BG-A0MG-01	exon_skip_55892	1262081	1272973	1265596	1265597	Frame_Shift_Ins	-	C	p.V2496fs
LIHC	TCGA-BC-A112-01	exon_skip_55892	1262081	1272973	1266573	1266574	Frame_Shift_Ins	-	C	p.SP2824fs
LIHC	TCGA-BC-A112-01	exon_skip_55892	1262081	1272973	1266959	1266960	Frame_Shift_Ins	-	G	p.G2953fs
LIHC	TCGA-BC-A112-01	exon_skip_55892	1262081	1272973	1267176	1267177	Frame_Shift_Ins	-	A	p.S3026fs
LIHC	TCGA-BC-A112-01	exon_skip_55892	1262081	1272973	1267579	1267580	Frame_Shift_Ins	-	C	p.P3160fs
LIHC	TCGA-BC-A112-01	exon_skip_55892	1262081	1272973	1270596	1270597	Frame_Shift_Ins	-	G	p.GG4165fs
KICH	TCGA-KN-8427-01	exon_skip_55892	1262081	1272973	1271712	1271713	Frame_Shift_Ins	-	C	p.W4534fs
LIHC	TCGA-BC-A112-01	exon_skip_55892	1262081	1272973	1272194	1272195	Frame_Shift_Ins	-	C	p.T4698fs
TGCT	TCGA-2G-AAGW-01	exon_skip_55892	1262081	1272973	1272718	1272719	Frame_Shift_Ins	-	C	p.T4870fs
BLCA	TCGA-BT-A42B-01	exon_skip_55898	1276271	1276496	1276413	1276414	Frame_Shift_Ins	-	G	p.A5273fs
BLCA	TCGA-BT-A42B-01	exon_skip_55898	1276271	1276496	1276413	1276414	Frame_Shift_Ins	-	G	p.T5606fs
LUAD	TCGA-91-8499-01	exon_skip_55899	1279329	1279433	1279349	1279350	Frame_Shift_Ins	-	A	p.P5494fs
BLCA	TCGA-4Z-AA84-01	exon_skip_55886	1251235	1251373	1251361	1251361	Nonsense_Mutation	C	G	p.Y452*
UCEC	TCGA-AP-A051-01	exon_skip_55892	1262081	1272973	1262637	1262637	Nonsense_Mutation	G	A	p.W1512*
SKCM	TCGA-FR-A726-01	exon_skip_55892	1262081	1272973	1262847	1262847	Nonsense_Mutation	G	A	p.W1582*
PAAD	TCGA-IB-7651-01	exon_skip_55892	1262081	1272973	1263600	1263600	Nonsense_Mutation	C	A	p.C1830*
PAAD	TCGA-IB-7651-01	exon_skip_55892	1262081	1272973	1263600	1263600	Nonsense_Mutation	C	A	p.C1830X
PAAD	TCGA-IB-7651-01	exon_skip_55892	1262081	1272973	1263600	1263600	Nonsense_Mutation	C	A	p.C1833*
BLCA	TCGA-MV-A51V-01	exon_skip_55892	1262081	1272973	1263619	1263619	Nonsense_Mutation	G	T	p.E1840*
PCPG	TCGA-RW-A686-06	exon_skip_55892	1262081	1272973	1263681	1263681	Nonsense_Mutation	C	A	p.C1860*
SKCM	TCGA-GF-A6C9-06	exon_skip_55892	1262081	1272973	1264085	1264085	Nonsense_Mutation	G	A	p.W1995*
UCEC	TCGA-AP-A056-01	exon_skip_55892	1262081	1272973	1267354	1267354	Nonsense_Mutation	G	T	p.E3085*
UCEC	TCGA-A5-A0GP-01	exon_skip_55892	1262081	1272973	1267606	1267606	Nonsense_Mutation	G	T	p.E3169*
CESC	TCGA-IR-A3LA-01	exon_skip_55892	1262081	1272973	1268333	1268333	Nonsense_Mutation	C	G	p.S3411*
BLCA	TCGA-GV-A3QH-01	exon_skip_55892	1262081	1272973	1268537	1268537	Nonsense_Mutation	C	A	p.S3479*
BLCA	TCGA-GV-A3QH-01	exon_skip_55892	1262081	1272973	1268537	1268537	Nonsense_Mutation	C	A	p.S4004*
PAAD	TCGA-IB-7651-01	exon_skip_55892	1262081	1272973	1268566	1268566	Nonsense_Mutation	G	T	p.E3486X
SKCM	TCGA-FR-A726-01	exon_skip_55892	1262081	1272973	1269780	1269780	Nonsense_Mutation	G	A	p.W3893*
CESC	TCGA-EA-A3HR-01	exon_skip_55892	1262081	1272973	1272203	1272203	Nonsense_Mutation	C	G	p.S4701*
UCEC	TCGA-D1-A17Q-01	exon_skip_55892	1262081	1272973	1272387	1272387	Nonsense_Mutation	G	A	p.W4762*
ESCA	TCGA-L5-A8NI-01	exon_skip_55884	1247435	1247506	1247507	1247507	Splice_Site	G	A	.
ESCA	TCGA-L5-A8NI-01	exon_skip_55884	1247435	1247506	1247507	1247507	Splice_Site	G	A	e3+1
KIRP	TCGA-B1-A47N-01	exon_skip_55930	1281581	1281623	1281625	1281625	Splice_Site	T	G	p.D5656_splice

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons

Mutation description

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1262591	1262591	Frame_Shift_Del	C	-	p.T1494fs
NCIH835_LUNG	1262081	1272973	1264181	1264181	Frame_Shift_Del	C	-	p.T2024fs
HEC108_ENDOMETRIUM	1262081	1272973	1264584	1264584	Frame_Shift_Del	C	-	p.I2158fs
KM12_LARGE_INTESTINE	1262081	1272973	1264584	1264584	Frame_Shift_Del	C	-	p.I2158fs
SNGM_ENDOMETRIUM	1262081	1272973	1265966	1265966	Frame_Shift_Del	C	-	p.T2619fs
HCC202_BREAST	1262081	1272973	1268364	1268364	Frame_Shift_Del	G	-	p.V3418fs
HCC202_BREAST	1262081	1272973	1268366	1268366	Frame_Shift_Del	T	-	p.L3419fs
RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1268488	1268488	Frame_Shift_Del	C	-	p.P3461fs
SNU899_UPPER_AERODIGESTIVE_TRACT	1262081	1272973	1269131	1269131	Frame_Shift_Del	C	-	p.T3674fs
SNU520_STOMACH	1262081	1272973	1270802	1270802	Frame_Shift_Del	C	-	p.T4231fs
SNU520_STOMACH	1262081	1272973	1272023	1272023	Frame_Shift_Del	C	-	p.T4638fs
SKUT1_SOFT_TISSUE	1262081	1272973	1272139	1272139	Frame_Shift_Del	C	-	p.P4678fs
SNUC2B_LARGE_INTESTINE	1262081	1272973	1264924	1264925	Frame_Shift_Ins	-	C	p.T2272fs
HCC202_BREAST	1262081	1272973	1268361	1268362	Frame_Shift_Ins	-	AG	p.V3418fs
CW2_LARGE_INTESTINE	1262081	1272973	1268487	1268488	Frame_Shift_Ins	-	C	p.P3460fs
NCIH1436_LUNG	1262081	1272973	1269503	1269505	In_Frame_Del	CCT	-	p.S3801del
CW2_LARGE_INTESTINE	1262081	1272973	1272536	1272538	In_Frame_Del	CCT	-	p.S4811del
RMGI_OVARY	1262081	1272973	1272549	1272551	In_Frame_Del	GGG	-	p.G4814del
NCIH2227_LUNG	1247435	1247506	1247447	1247447	Missense_Mutation	C	A	p.S47Y
IHH4_THYROID	1251235	1251373	1251243	1251243	Missense_Mutation	C	T	p.S410F
NCIH650_LUNG	1251235	1251373	1251245	1251245	Missense_Mutation	G	T	p.G411W
NCIH630_LARGE_INTESTINE	1261275	1261318	1261304	1261304	Missense_Mutation	C	T	p.A1253V
DANG_PANCREAS	1262081	1272973	1262093	1262093	Missense_Mutation	C	G	p.P1328R
NCIH2882_LUNG	1262081	1272973	1262101	1262101	Missense_Mutation	A	G	p.T1331A
LB771HNC_UPPER_AERODIGESTIVE_TRACT	1262081	1272973	1262159	1262159	Missense_Mutation	A	G	p.E1350G
LB771PBL_MATCHED_NORMAL_TISSUE	1262081	1272973	1262159	1262159	Missense_Mutation	A	G	p.E1350G
SNU407_LARGE_INTESTINE	1262081	1272973	1262164	1262164	Missense_Mutation	G	A	p.G1352S
KMBC2_URINARY_TRACT	1262081	1272973	1262208	1262208	Missense_Mutation	G	C	p.Q1366H
SW1573_LUNG	1262081	1272973	1262221	1262221	Missense_Mutation	G	C	p.V1371L
KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1262240	1262240	Missense_Mutation	A	G	p.D1377G
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1262242	1262242	Missense_Mutation	A	G	p.I1378V
MDAMB436_BREAST	1262081	1272973	1262311	1262311	Missense_Mutation	C	T	p.R1401C
MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1262311	1262311	Missense_Mutation	C	T	p.R1401C
SNU878_LIVER	1262081	1272973	1262311	1262311	Missense_Mutation	C	T	p.R1401C
RH30_SOFT_TISSUE	1262081	1272973	1262371	1262371	Missense_Mutation	G	A	p.E1421K
SJRH30_SOFT_TISSUE	1262081	1272973	1262371	1262371	Missense_Mutation	G	A	p.E1421K
SNU1040_LARGE_INTESTINE	1262081	1272973	1262378	1262378	Missense_Mutation	G	A	p.R1423Q
NCIH1694_LUNG	1262081	1272973	1262453	1262453	Missense_Mutation	C	A	p.A1448D
SNU719_STOMACH	1262081	1272973	1262504	1262504	Missense_Mutation	A	C	p.K1465T
BT20_BREAST	1262081	1272973	1262546	1262546	Missense_Mutation	C	T	p.A1479V
NCIH630_LARGE_INTESTINE	1262081	1272973	1262587	1262587	Missense_Mutation	G	A	p.V1493I
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1262726	1262726	Missense_Mutation	A	G	p.H1539R
MM426_SKIN	1262081	1272973	1262746	1262746	Missense_Mutation	G	A	p.D1546N
COLO824_BREAST	1262081	1272973	1262746	1262746	Missense_Mutation	G	C	p.D1546H
NCIH196_LUNG	1262081	1272973	1262761	1262761	Missense_Mutation	G	C	p.A1551P
KYSE270_OESOPHAGUS	1262081	1272973	1262837	1262837	Missense_Mutation	G	A	p.C1576Y
201T_LUNG	1262081	1272973	1262851	1262851	Missense_Mutation	C	A	p.Q1581K
GSU_STOMACH	1262081	1272973	1262926	1262926	Missense_Mutation	C	T	p.R1606C
SNU738_CENTRAL_NERVOUS_SYSTEM	1262081	1272973	1262926	1262926	Missense_Mutation	C	T	p.R1606C
MFE319_ENDOMETRIUM	1262081	1272973	1263058	1263058	Missense_Mutation	G	A	p.V1650I
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1263101	1263101	Missense_Mutation	G	A	p.S1664N
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1263106	1263106	Missense_Mutation	C	A	p.L1666I
NCIBL1395_MATCHED_NORMAL_TISSUE	1262081	1272973	1263143	1263143	Missense_Mutation	C	T	p.A1678V
NCIH1395_LUNG	1262081	1272973	1263143	1263143	Missense_Mutation	C	T	p.A1678V
BB65EBV_MATCHED_NORMAL_TISSUE	1262081	1272973	1263175	1263175	Missense_Mutation	G	T	p.A1689S
BB65RCC_KIDNEY	1262081	1272973	1263175	1263175	Missense_Mutation	G	T	p.A1689S
LU139_LUNG	1262081	1272973	1263187	1263187	Missense_Mutation	C	T	p.L1693F
HCT15_LARGE_INTESTINE	1262081	1272973	1263224	1263224	Missense_Mutation	G	A	p.S1705N
MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1263280	1263280	Missense_Mutation	A	T	p.T1724S
KNS62_LUNG	1262081	1272973	1263296	1263296	Missense_Mutation	C	A	p.P1729Q
DEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1263296	1263296	Missense_Mutation	C	A	p.P1729Q
TGBC11TKB_STOMACH	1262081	1272973	1263316	1263316	Missense_Mutation	G	C	p.A1736P
SNU81_LARGE_INTESTINE	1262081	1272973	1263340	1263340	Missense_Mutation	A	C	p.S1744R
SH10TC_STOMACH	1262081	1272973	1263341	1263341	Missense_Mutation	G	C	p.S1744T
CW2_LARGE_INTESTINE	1262081	1272973	1263341	1263341	Missense_Mutation	G	C	p.S1744T
LC2AD_LUNG	1262081	1272973	1263341	1263341	Missense_Mutation	G	C	p.S1744T
P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1263341	1263341	Missense_Mutation	G	C	p.S1744T
NCIH1581_LUNG	1262081	1272973	1263426	1263426	Missense_Mutation	G	C	p.L1772F
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1263452	1263452	Missense_Mutation	C	T	p.T1781M
CHP134_AUTONOMIC_GANGLIA	1262081	1272973	1263461	1263461	Missense_Mutation	G	T	p.C1784F
22RV1_PROSTATE	1262081	1272973	1263602	1263602	Missense_Mutation	G	A	p.R1831Q
DV90_LUNG	1262081	1272973	1263640	1263640	Missense_Mutation	G	T	p.G1844W
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1263640	1263640	Missense_Mutation	G	A	p.G1844R
HCC2998_LARGE_INTESTINE	1262081	1272973	1263688	1263688	Missense_Mutation	G	A	p.E1860K
KNS62_LUNG	1262081	1272973	1263713	1263713	Missense_Mutation	T	C	p.M1868T
LN229_CENTRAL_NERVOUS_SYSTEM	1262081	1272973	1263722	1263722	Missense_Mutation	A	G	p.N1871S
COLO680N_OESOPHAGUS	1262081	1272973	1263797	1263797	Missense_Mutation	C	T	p.T1896M
AN3CA_ENDOMETRIUM	1262081	1272973	1263808	1263808	Missense_Mutation	A	G	p.T1900A
GOS3_CENTRAL_NERVOUS_SYSTEM	1262081	1272973	1263823	1263823	Missense_Mutation	T	A	p.W1905R
EW22_BONE	1262081	1272973	1263977	1263977	Missense_Mutation	C	T	p.S1956F
NTERA2CLD1_TESTIS	1262081	1272973	1263989	1263990	Missense_Mutation	GG	AA	p.G1960E
EN_ENDOMETRIUM	1262081	1272973	1264040	1264040	Missense_Mutation	C	T	p.A1977V
HEC6_ENDOMETRIUM	1262081	1272973	1264051	1264051	Missense_Mutation	A	G	p.T1981A
ALLSIL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1264066	1264066	Missense_Mutation	T	C	p.S1986P
HCC1143_BREAST	1262081	1272973	1264115	1264115	Missense_Mutation	C	T	p.T2002M
SKMEL31_SKIN	1262081	1272973	1264115	1264115	Missense_Mutation	C	T	p.T2002M
SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1264117	1264117	Missense_Mutation	G	A	p.A2003T
LB2518EBV_MATCHED_NORMAL_TISSUE	1262081	1272973	1264125	1264125	Missense_Mutation	G	C	p.M2005I
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1264237	1264237	Missense_Mutation	C	A	p.P2043T
MEWO_SKIN	1262081	1272973	1264241	1264241	Missense_Mutation	G	A	p.G2044E
TE125T_FIBROBLAST	1262081	1272973	1264244	1264244	Missense_Mutation	C	G	p.T2045R
MCC13_SKIN	1262081	1272973	1264304	1264304	Missense_Mutation	C	T	p.S2065F
SW684_SOFT_TISSUE	1262081	1272973	1264361	1264361	Missense_Mutation	C	T	p.T2084I
LU99_LUNG	1262081	1272973	1264394	1264394	Missense_Mutation	T	C	p.I2095T
NCIH2126_LUNG	1262081	1272973	1264502	1264502	Missense_Mutation	C	T	p.P2131L
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1264519	1264519	Missense_Mutation	G	A	p.A2137T
TE441T_SOFT_TISSUE	1262081	1272973	1264527	1264528	Missense_Mutation	GA	AT	p.I2140F
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1264606	1264606	Missense_Mutation	G	A	p.A2166T
MDAMB453_BREAST	1262081	1272973	1264606	1264606	Missense_Mutation	G	A	p.A2166T
NCIH510_LUNG	1262081	1272973	1264709	1264709	Missense_Mutation	G	T	p.R2200L
EW16_BONE	1262081	1272973	1264714	1264714	Missense_Mutation	C	G	p.L2202V
SH10TC_STOMACH	1262081	1272973	1264819	1264819	Missense_Mutation	A	G	p.T2237A
BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1264831	1264831	Missense_Mutation	A	G	p.T2241A
M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1264837	1264837	Missense_Mutation	G	C	p.G2243R
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1264871	1264871	Missense_Mutation	G	A	p.S2254N
SNU423_LIVER	1262081	1272973	1264942	1264942	Missense_Mutation	G	T	p.A2278S
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1264943	1264943	Missense_Mutation	C	G	p.A2278G
OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1264946	1264946	Missense_Mutation	C	G	p.T2279S
NCIH196_LUNG	1262081	1272973	1264955	1264955	Missense_Mutation	C	A	p.T2282N
NCIH196_LUNG	1262081	1272973	1264955	1264956	Missense_Mutation	CC	AA	p.T2282K
OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1264957	1264957	Missense_Mutation	A	G	p.T2283A
EN_ENDOMETRIUM	1262081	1272973	1265065	1265065	Missense_Mutation	G	A	p.A2319T
NCIH1339_LUNG	1262081	1272973	1265074	1265074	Missense_Mutation	G	C	p.E2322Q
HEC108_ENDOMETRIUM	1262081	1272973	1265099	1265099	Missense_Mutation	T	C	p.M2330T
DU145_PROSTATE	1262081	1272973	1265246	1265246	Missense_Mutation	G	A	p.C2379Y
SNU1040_LARGE_INTESTINE	1262081	1272973	1265385	1265385	Missense_Mutation	G	A	p.M2425I
NCIH1435_LUNG	1262081	1272973	1265414	1265414	Missense_Mutation	T	A	p.I2435N
HEC251_ENDOMETRIUM	1262081	1272973	1265446	1265446	Missense_Mutation	A	G	p.T2446A
SCLC21H_LUNG	1262081	1272973	1265678	1265678	Missense_Mutation	C	A	p.P2523Q
RH36_SOFT_TISSUE	1262081	1272973	1265725	1265725	Missense_Mutation	G	C	p.A2539P
CAL62_THYROID	1262081	1272973	1265792	1265792	Missense_Mutation	C	T	p.T2561I
JHUEM1_ENDOMETRIUM	1262081	1272973	1265794	1265794	Missense_Mutation	A	G	p.M2562V
ES8_BONE	1262081	1272973	1265890	1265890	Missense_Mutation	G	T	p.A2594S
GB1_CENTRAL_NERVOUS_SYSTEM	1262081	1272973	1265953	1265953	Missense_Mutation	G	A	p.G2615S
L33_PANCREAS	1262081	1272973	1265981	1265981	Missense_Mutation	C	G	p.P2624R
KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1265990	1265990	Missense_Mutation	C	A	p.A2627E
MCC13_SKIN	1262081	1272973	1266062	1266063	Missense_Mutation	CC	TT	p.S2651F
MCC13_SKIN	1262081	1272973	1266062	1266062	Missense_Mutation	C	T	p.S2651F
NALM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1266068	1266068	Missense_Mutation	C	A	p.P2653Q
LS411N_LARGE_INTESTINE	1262081	1272973	1266178	1266178	Missense_Mutation	C	A	p.L2690M
HCT116_LARGE_INTESTINE	1262081	1272973	1266203	1266203	Missense_Mutation	C	T	p.T2698M
HCC44_LUNG	1262081	1272973	1266302	1266302	Missense_Mutation	G	A	p.S2731N
KPL1_BREAST	1262081	1272973	1266302	1266302	Missense_Mutation	G	A	p.S2731N
MDAMB175VII_BREAST	1262081	1272973	1266302	1266302	Missense_Mutation	G	A	p.S2731N
SNU520_STOMACH	1262081	1272973	1266302	1266302	Missense_Mutation	G	A	p.S2731N
MDAMB134VI_BREAST	1262081	1272973	1266466	1266466	Missense_Mutation	G	C	p.E2786Q
D247MG_CENTRAL_NERVOUS_SYSTEM	1262081	1272973	1266554	1266554	Missense_Mutation	G	T	p.S2815I
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1266760	1266760	Missense_Mutation	A	G	p.S2884G
HS746T_STOMACH	1262081	1272973	1266889	1266889	Missense_Mutation	C	A	p.L2927M
NCIH187_LUNG	1262081	1272973	1267046	1267046	Missense_Mutation	C	G	p.S2979C
HEC1A_ENDOMETRIUM	1262081	1272973	1267052	1267052	Missense_Mutation	C	T	p.A2981V
ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1267058	1267058	Missense_Mutation	C	A	p.P2983H
NCIH187_LUNG	1262081	1272973	1267091	1267091	Missense_Mutation	C	T	p.T2994I
MM127_SKIN	1262081	1272973	1267119	1267120	Missense_Mutation	CG	TA	p.A3004T
OV17R_OVARY	1262081	1272973	1267119	1267120	Missense_Mutation	CG	TA	p.A3004T
RH36_SOFT_TISSUE	1262081	1272973	1267119	1267120	Missense_Mutation	CG	TA	p.A3004T
SUM159PT_BREAST	1262081	1272973	1267119	1267120	Missense_Mutation	CG	TA	p.A3004T
LS411N_LARGE_INTESTINE	1262081	1272973	1267190	1267190	Missense_Mutation	G	A	p.S3027N
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1267195	1267195	Missense_Mutation	G	A	p.A3029T
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1267207	1267207	Missense_Mutation	A	C	p.T3033P
DMS53_LUNG	1262081	1272973	1267232	1267232	Missense_Mutation	C	G	p.S3041C
SKMEL31_SKIN	1262081	1272973	1267261	1267261	Missense_Mutation	C	T	p.L3051F
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1267282	1267282	Missense_Mutation	G	A	p.A3058T
NCIH2882_LUNG	1262081	1272973	1267337	1267337	Missense_Mutation	C	T	p.T3076I
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1267375	1267375	Missense_Mutation	G	A	p.A3089T
MFE296_ENDOMETRIUM	1262081	1272973	1267375	1267375	Missense_Mutation	G	A	p.A3089T
MFE319_ENDOMETRIUM	1262081	1272973	1267390	1267390	Missense_Mutation	A	G	p.I3094V
A549_LUNG	1262081	1272973	1267413	1267413	Missense_Mutation	G	T	p.E3101D
CAR1_LARGE_INTESTINE	1262081	1272973	1267442	1267442	Missense_Mutation	C	T	p.T3111M
EN_ENDOMETRIUM	1262081	1272973	1267486	1267486	Missense_Mutation	T	G	p.S3126A
JHUEM1_ENDOMETRIUM	1262081	1272973	1267556	1267556	Missense_Mutation	G	A	p.G3149D
JHUEM7_ENDOMETRIUM	1262081	1272973	1267621	1267621	Missense_Mutation	G	A	p.A3171T
SNUC2A_LARGE_INTESTINE	1262081	1272973	1267682	1267682	Missense_Mutation	G	A	p.G3191D
SNUC2B_LARGE_INTESTINE	1262081	1272973	1267682	1267682	Missense_Mutation	G	A	p.G3191D
NCIH1436_LUNG	1262081	1272973	1267729	1267729	Missense_Mutation	A	T	p.S3207C
NCIH2342_LUNG	1262081	1272973	1267855	1267855	Missense_Mutation	T	A	p.W3249R
LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM	1262081	1272973	1267861	1267861	Missense_Mutation	C	A	p.R3251S
NCIH446_LUNG	1262081	1272973	1267928	1267928	Missense_Mutation	C	T	p.T3273I
SNU738_CENTRAL_NERVOUS_SYSTEM	1262081	1272973	1267974	1267974	Missense_Mutation	G	T	p.R3288S
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1267997	1267997	Missense_Mutation	C	T	p.P3296L
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1268053	1268053	Missense_Mutation	G	C	p.G3315R
EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1268273	1268273	Missense_Mutation	C	A	p.P3388Q
ECGI10_OESOPHAGUS	1262081	1272973	1268327	1268327	Missense_Mutation	C	G	p.P3406R
NCIH1836_LUNG	1262081	1272973	1268339	1268339	Missense_Mutation	C	A	p.P3410Q
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1268351	1268351	Missense_Mutation	C	A	p.P3414H
CP66MEL_SKIN	1262081	1272973	1268393	1268393	Missense_Mutation	C	A	p.A3428D
BEN_LUNG	1262081	1272973	1268396	1268397	Missense_Mutation	CC	AA	p.T3429K
OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1268417	1268417	Missense_Mutation	C	T	p.S3436F
SW1271_LUNG	1262081	1272973	1268417	1268417	Missense_Mutation	C	A	p.S3436Y
NCIH513_PLEURA	1262081	1272973	1268429	1268429	Missense_Mutation	G	T	p.G3440V
HT115_LARGE_INTESTINE	1262081	1272973	1268524	1268524	Missense_Mutation	A	C	p.T3472P
SNGM_ENDOMETRIUM	1262081	1272973	1268545	1268545	Missense_Mutation	T	G	p.L3479V
HEC1A_ENDOMETRIUM	1262081	1272973	1268546	1268546	Missense_Mutation	T	C	p.L3479S
HEC1_ENDOMETRIUM	1262081	1272973	1268546	1268546	Missense_Mutation	T	C	p.L3479S
GP2D_LARGE_INTESTINE	1262081	1272973	1268605	1268605	Missense_Mutation	A	G	p.T3499A
GP5D_LARGE_INTESTINE	1262081	1272973	1268605	1268605	Missense_Mutation	A	G	p.T3499A
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1268612	1268612	Missense_Mutation	C	A	p.T3501N
SKCO1_LARGE_INTESTINE	1262081	1272973	1268681	1268681	Missense_Mutation	C	T	p.S3524F
SKMEL30_SKIN	1262081	1272973	1268686	1268686	Missense_Mutation	G	A	p.G3526R
JHUEM7_ENDOMETRIUM	1262081	1272973	1268708	1268708	Missense_Mutation	C	G	p.T3533S
SNU1041_UPPER_AERODIGESTIVE_TRACT	1262081	1272973	1268708	1268708	Missense_Mutation	C	G	p.T3533S
SNU61_LARGE_INTESTINE	1262081	1272973	1268708	1268708	Missense_Mutation	C	G	p.T3533S
EBC1_LUNG	1262081	1272973	1268708	1268708	Missense_Mutation	C	G	p.T3533S
HUPT3_PANCREAS	1262081	1272973	1268708	1268708	Missense_Mutation	C	G	p.T3533S
TCYIK_CERVIX	1262081	1272973	1268708	1268708	Missense_Mutation	C	G	p.T3533S
DETROIT562_UPPER_AERODIGESTIVE_TRACT	1262081	1272973	1268711	1268711	Missense_Mutation	G	C	p.R3534T
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1268731	1268731	Missense_Mutation	G	A	p.A3541T
SKMES1_LUNG	1262081	1272973	1268918	1268918	Missense_Mutation	C	A	p.A3603E
HCC2157_BREAST	1262081	1272973	1269164	1269164	Missense_Mutation	C	T	p.S3685L
NCIH596_LUNG	1262081	1272973	1269200	1269200	Missense_Mutation	C	T	p.T3697I
SNU175_LARGE_INTESTINE	1262081	1272973	1269221	1269221	Missense_Mutation	A	C	p.E3704A
SKMEL28_SKIN	1262081	1272973	1269237	1269238	Missense_Mutation	GG	AA	p.A3710T
KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1269238	1269238	Missense_Mutation	G	A	p.A3710T
OVK18_OVARY	1262081	1272973	1269238	1269238	Missense_Mutation	G	A	p.A3710T
MKN45_STOMACH	1262081	1272973	1269238	1269238	Missense_Mutation	G	A	p.A3710T
HA7RCC_KIDNEY	1262081	1272973	1269553	1269553	Missense_Mutation	C	T	p.P3815S
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1269578	1269578	Missense_Mutation	C	T	p.T3823I
KM12_LARGE_INTESTINE	1262081	1272973	1269635	1269635	Missense_Mutation	C	T	p.T3842I
SNU410_PANCREAS	1262081	1272973	1269646	1269646	Missense_Mutation	G	A	p.A3846T
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	1262081	1272973	1269646	1269646	Missense_Mutation	G	A	p.A3846T
EN_ENDOMETRIUM	1262081	1272973	1269646	1269646	Missense_Mutation	G	A	p.A3846T
COLO205_LARGE_INTESTINE	1262081	1272973	1269665	1269665	Missense_Mutation	C	A	p.T3852N
LS1034_LARGE_INTESTINE	1262081	1272973	1269665	1269665	Missense_Mutation	C	A	p.T3852N
KM12_LARGE_INTESTINE	1262081	1272973	1269731	1269731	Missense_Mutation	C	T	p.T3874I
RH28_SOFT_TISSUE	1262081	1272973	1269758	1269758	Missense_Mutation	C	G	p.T3883R
CADOES1_BONE	1262081	1272973	1269809	1269809	Missense_Mutation	G	A	p.S3900N
SNU478_BILIARY_TRACT	1262081	1272973	1269809	1269809	Missense_Mutation	G	A	p.S3900N
NCIBL1395_MATCHED_NORMAL_TISSUE	1262081	1272973	1269832	1269832	Missense_Mutation	T	A	p.S3908T
NCIH1395_LUNG	1262081	1272973	1269832	1269832	Missense_Mutation	T	A	p.S3908T
A427_LUNG	1262081	1272973	1269902	1269902	Missense_Mutation	T	C	p.M3931T
LS180_LARGE_INTESTINE	1262081	1272973	1269925	1269925	Missense_Mutation	C	G	p.Q3939E
LNCAPCLONEFGC_PROSTATE	1262081	1272973	1269937	1269937	Missense_Mutation	A	G	p.T3943A
MDAMB134VI_BREAST	1262081	1272973	1270237	1270237	Missense_Mutation	G	C	p.E4043Q
WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1270340	1270340	Missense_Mutation	A	T	p.E4077V
JHUEM1_ENDOMETRIUM	1262081	1272973	1270358	1270358	Missense_Mutation	G	A	p.G4083E
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1270369	1270369	Missense_Mutation	C	T	p.P4087S
IGROV1_OVARY	1262081	1272973	1270408	1270408	Missense_Mutation	G	A	p.A4100T
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1270408	1270408	Missense_Mutation	G	A	p.A4100T
HLFA_FIBROBLAST	1262081	1272973	1270436	1270436	Missense_Mutation	C	A	p.T4109N
NCIH650_LUNG	1262081	1272973	1270633	1270633	Missense_Mutation	C	A	p.R4175S
SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1270708	1270708	Missense_Mutation	G	T	p.V4200F
PL4_PANCREAS	1262081	1272973	1270714	1270714	Missense_Mutation	A	T	p.R4202W
JHH7_LIVER	1262081	1272973	1270732	1270732	Missense_Mutation	G	A	p.G4208R
ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1270733	1270733	Missense_Mutation	G	C	p.G4208A
OVCAR4_OVARY	1262081	1272973	1270739	1270739	Missense_Mutation	T	G	p.F4210C
BFTC905_URINARY_TRACT	1262081	1272973	1270755	1270755	Missense_Mutation	C	A	p.N4215K
SISO_CERVIX	1262081	1272973	1270810	1270810	Missense_Mutation	A	G	p.T4234A
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1270810	1270810	Missense_Mutation	A	G	p.T4234A
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1270815	1270815	Missense_Mutation	C	A	p.S4235R
CW2_LARGE_INTESTINE	1262081	1272973	1270817	1270817	Missense_Mutation	C	A	p.S4236Y
NCIH1105_LUNG	1262081	1272973	1270820	1270820	Missense_Mutation	C	A	p.T4237K
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1270820	1270820	Missense_Mutation	C	T	p.T4237M
MKN7_STOMACH	1262081	1272973	1270835	1270835	Missense_Mutation	C	G	p.S4242C
VMRCLCD_LUNG	1262081	1272973	1270867	1270867	Missense_Mutation	C	A	p.L4253M
NCIH292_LUNG	1262081	1272973	1270892	1270893	Missense_Mutation	CA	AG	p.A4261E
KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1270903	1270903	Missense_Mutation	T	C	p.S4265P
KYSE410_OESOPHAGUS	1262081	1272973	1270934	1270934	Missense_Mutation	C	T	p.T4275I
DU145_PROSTATE	1262081	1272973	1271018	1271018	Missense_Mutation	G	T	p.R4303M
SNU201_CENTRAL_NERVOUS_SYSTEM	1262081	1272973	1271029	1271029	Missense_Mutation	A	G	p.T4307A
KNS42_CENTRAL_NERVOUS_SYSTEM	1262081	1272973	1271075	1271076	Missense_Mutation	GC	AT	p.S4322N
SCABER_URINARY_TRACT	1262081	1272973	1271096	1271096	Missense_Mutation	C	G	p.S4329C
HSC1_SKIN	1262081	1272973	1271132	1271132	Missense_Mutation	C	T	p.T4341I
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1271140	1271140	Missense_Mutation	C	T	p.P4344S
SNU719_STOMACH	1262081	1272973	1271149	1271149	Missense_Mutation	A	G	p.T4347A
MM415_SKIN	1262081	1272973	1271266	1271266	Missense_Mutation	C	T	p.P4386S
D566MG_CENTRAL_NERVOUS_SYSTEM	1262081	1272973	1271275	1271275	Missense_Mutation	A	G	p.T4389A
MKN45_STOMACH	1262081	1272973	1271404	1271404	Missense_Mutation	G	A	p.A4432T
NCIH1651_LUNG	1262081	1272973	1271417	1271417	Missense_Mutation	C	G	p.S4436C
P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1271458	1271458	Missense_Mutation	C	G	p.L4450V
TT_OESOPHAGUS	1262081	1272973	1271507	1271507	Missense_Mutation	C	A	p.T4466K
ECGI10_OESOPHAGUS	1262081	1272973	1271531	1271531	Missense_Mutation	C	G	p.A4474G
HCT15_LARGE_INTESTINE	1262081	1272973	1271573	1271573	Missense_Mutation	C	A	p.P4488H
GI1_CENTRAL_NERVOUS_SYSTEM	1262081	1272973	1271602	1271602	Missense_Mutation	T	C	p.S4498P
RH36_SOFT_TISSUE	1262081	1272973	1271648	1271648	Missense_Mutation	C	T	p.T4513I
HPAC_PANCREAS	1262081	1272973	1271648	1271648	Missense_Mutation	C	T	p.T4513I
COV644_OVARY	1262081	1272973	1271729	1271729	Missense_Mutation	C	T	p.T4540I
SMSCTR_SOFT_TISSUE	1262081	1272973	1271773	1271773	Missense_Mutation	A	G	p.T4555A
OVK18_OVARY	1262081	1272973	1271773	1271773	Missense_Mutation	A	G	p.T4555A
HEC151_ENDOMETRIUM	1262081	1272973	1271785	1271785	Missense_Mutation	G	A	p.V4559I
NCIH1694_LUNG	1262081	1272973	1271819	1271819	Missense_Mutation	C	G	p.T4570S
SNU1040_LARGE_INTESTINE	1262081	1272973	1271831	1271831	Missense_Mutation	C	T	p.A4574V
NCIH446_LUNG	1262081	1272973	1271857	1271857	Missense_Mutation	T	A	p.S4583T
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1272055	1272055	Missense_Mutation	G	A	p.A4649T
HCT116_LARGE_INTESTINE	1262081	1272973	1272055	1272055	Missense_Mutation	G	A	p.A4649T
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1272158	1272158	Missense_Mutation	C	T	p.T4683M
SNU175_LARGE_INTESTINE	1262081	1272973	1272191	1272191	Missense_Mutation	C	T	p.T4694I
HS936T_SKIN	1262081	1272973	1272223	1272223	Missense_Mutation	A	C	p.I4705L
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	1262081	1272973	1272242	1272242	Missense_Mutation	G	C	p.S4711T
HEC108_ENDOMETRIUM	1262081	1272973	1272269	1272269	Missense_Mutation	G	A	p.S4720N
GT3TKB_STOMACH	1262081	1272973	1272376	1272376	Missense_Mutation	T	C	p.S4756P
COGN278_AUTONOMIC_GANGLIA	1262081	1272973	1272421	1272421	Missense_Mutation	C	T	p.P4771S
TE1_OESOPHAGUS	1262081	1272973	1272422	1272422	Missense_Mutation	C	T	p.P4771L
SISO_CERVIX	1262081	1272973	1272553	1272553	Missense_Mutation	A	G	p.T4815A
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1272553	1272553	Missense_Mutation	A	G	p.T4815A
PANC1_PANCREAS	1262081	1272973	1272611	1272611	Missense_Mutation	C	T	p.S4834F
KP1N_PANCREAS	1262081	1272973	1272611	1272611	Missense_Mutation	C	T	p.S4834F
CHLA06ATRT_SOFT_TISSUE	1262081	1272973	1272626	1272626	Missense_Mutation	C	T	p.S4839F
SNUC2A_LARGE_INTESTINE	1262081	1272973	1272662	1272662	Missense_Mutation	C	T	p.P4851L
SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1272698	1272698	Missense_Mutation	C	T	p.S4863F
HCC2450_LUNG	1262081	1272973	1272768	1272768	Missense_Mutation	G	A	p.M4886I
NCIH1755_LUNG	1262081	1272973	1272776	1272776	Missense_Mutation	C	A	p.A4889D
HEC108_ENDOMETRIUM	1262081	1272973	1272821	1272821	Missense_Mutation	G	A	p.R4904H
HEC151_ENDOMETRIUM	1262081	1272973	1272821	1272821	Missense_Mutation	G	A	p.R4904H
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	1262081	1272973	1272821	1272821	Missense_Mutation	G	A	p.R4904H
BT474_BREAST	1262081	1272973	1272821	1272821	Missense_Mutation	G	A	p.R4904H
SF126_CENTRAL_NERVOUS_SYSTEM	1262081	1272973	1272821	1272821	Missense_Mutation	G	A	p.R4904H
HEC108_ENDOMETRIUM	1262081	1272973	1272830	1272830	Missense_Mutation	C	T	p.A4907V
SAS_UPPER_AERODIGESTIVE_TRACT	1262081	1272973	1272856	1272856	Missense_Mutation	T	C	p.F4916L
MEWO_SKIN	1262081	1272973	1272914	1272914	Missense_Mutation	C	T	p.P4935L
A204_SOFT_TISSUE	1262081	1272973	1272940	1272940	Missense_Mutation	T	C	p.F4944L
TTC642_SOFT_TISSUE	1262081	1272973	1272940	1272940	Missense_Mutation	T	C	p.F4944L
HCT15_LARGE_INTESTINE	1276271	1276496	1276277	1276277	Missense_Mutation	G	A	p.C5224Y
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	1276271	1276496	1276315	1276315	Missense_Mutation	G	A	p.G5237R
NCIH28_PLEURA	1276271	1276496	1276403	1276403	Missense_Mutation	C	G	p.T5266R
SCS214_SOFT_TISSUE	1276271	1276496	1276414	1276414	Missense_Mutation	G	A	p.A5270T
RH28_SOFT_TISSUE	1276271	1276496	1276430	1276430	Missense_Mutation	C	T	p.P5275L
UMCHOR1_BONE	1276271	1276496	1276453	1276453	Missense_Mutation	A	C	p.T5283P
TTC709_SOFT_TISSUE	1279329	1279433	1279409	1279409	Missense_Mutation	G	A	p.D5511N
HCC1599_BREAST	1262081	1272973	1262996	1262996	Nonsense_Mutation	C	G	p.S1629*
OVK18_OVARY	1262081	1272973	1266379	1266379	Nonsense_Mutation	C	T	p.R2757*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MUC5B

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MUC5B

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MUC5B

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RelatedDrugs for MUC5B

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for MUC5B

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MUC5B	C1800706	Idiopathic Pulmonary Fibrosis	1	CTD_human;ORPHANET

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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