ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MUC4

Gene summary

Gene information	Gene symbol	MUC4
	Gene ID	4585
	Gene name	mucin 4, cell surface associated
	Synonyms	ASGP\|HSA276359\|MUC-4
	Cytomap	3q29
	Type of gene	protein-coding
	Description	mucin-4ascites sialoglycoproteinmucin 4, tracheobronchialpancreatic adenocarcinoma mucintestis mucintracheobronchial mucin
	Modification date	20180522
	UniProtAcc	Q99102
	Context	PubMed: MUC4 [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 MUC4 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 MUC4

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 MUC4

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_391170	3	195474043:195474251:195475772:195475935:195477759:195477983	195475772:195475935	ENSG00000145113.17	ENST00000464234.1,ENST00000466475.1,ENST00000480843.1,ENST00000470451.1,ENST00000477086.1,ENST00000308466.8,ENST00000448861.1,ENST00000346145.4,ENST00000477756.1,ENST00000339251.5,ENST00000463781.3,ENST00000415455.1,ENST00000478156.1,ENST00000392407.2,ENS
exon_skip_391171	3	195478077:195478142:195479243:195479317:195479921:195479974	195479243:195479317	ENSG00000145113.17	ENST00000464234.1,ENST00000466475.1,ENST00000480843.1,ENST00000470451.1,ENST00000477086.1,ENST00000308466.8,ENST00000448861.1,ENST00000346145.4,ENST00000477756.1,ENST00000339251.5,ENST00000463781.3,ENST00000415455.1,ENST00000469992.1,ENST00000478156.1,ENS
exon_skip_391177	3	195479921:195480101:195481083:195481243:195484017:195484199	195481083:195481243	ENSG00000145113.17	ENST00000466475.1,ENST00000480843.1,ENST00000470451.1,ENST00000477086.1,ENST00000308466.8,ENST00000346145.4,ENST00000477756.1,ENST00000339251.5,ENST00000463781.3,ENST00000415455.1,ENST00000475231.1,ENST00000462323.1,ENST00000349607.4
exon_skip_391184	3	195479921:195480101:195484017:195484199:195485994:195486132	195484017:195484199	ENSG00000145113.17	ENST00000448861.1,ENST00000478156.1,ENST00000392407.2
exon_skip_391187	3	195481083:195481243:195484017:195484199:195485994:195486132	195484017:195484199	ENSG00000145113.17	ENST00000466475.1,ENST00000480843.1,ENST00000470451.1,ENST00000477086.1,ENST00000308466.8,ENST00000346145.4,ENST00000477756.1,ENST00000339251.5,ENST00000463781.3,ENST00000415455.1,ENST00000475231.1,ENST00000462323.1,ENST00000349607.4
exon_skip_391191	3	195488354:195488456:195488957:195489125:195489725:195489816	195488957:195489125	ENSG00000145113.17	ENST00000466475.1,ENST00000480843.1,ENST00000470451.1,ENST00000477086.1,ENST00000308466.8,ENST00000448861.1,ENST00000346145.4,ENST00000477756.1,ENST00000339251.5,ENST00000463781.3,ENST00000415455.1,ENST00000478156.1,ENST00000392407.2,ENST00000475231.1,ENS
exon_skip_391192	3	195492140:195492320:195493533:195493622:195495892:195496023	195493533:195493622	ENSG00000145113.17	ENST00000466475.1,ENST00000477086.1,ENST00000448861.1,ENST00000346145.4,ENST00000463781.3,ENST00000478156.1,ENST00000392407.2,ENST00000475231.1,ENST00000479406.1,ENST00000462323.1,ENST00000349607.4
exon_skip_391199	3	195495920:195496023:195497086:195497242:195498522:195498611	195497086:195497242	ENSG00000145113.17	ENST00000466475.1,ENST00000477086.1,ENST00000308466.8,ENST00000346145.4,ENST00000477756.1,ENST00000339251.5,ENST00000463781.3,ENST00000415455.1,ENST00000478156.1,ENST00000392407.2,ENST00000479406.1,ENST00000349607.4
exon_skip_391200	3	195497086:195497242:195497548:195497757:195498522:195498611	195497548:195497757	ENSG00000145113.17	ENST00000448861.1
exon_skip_391278	3	195505173:195505326:195505660:195518368:195538606:195538728	195505660:195518368	ENSG00000145113.17	ENST00000466475.1,ENST00000480843.1,ENST00000470451.1,ENST00000477086.1,ENST00000477756.1,ENST00000463781.3,ENST00000478156.1,ENST00000475231.1,ENST00000479406.1,ENST00000462323.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MUC4

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_391170	3	195474043:195474251:195475772:195475935:195477759:195477983	195475772:195475935	ENSG00000145113.17	ENST00000308466.8,ENST00000448861.1,ENST00000339251.5,ENST00000415455.1,ENST00000392407.2,ENST00000349607.4,ENST00000346145.4,ENST00000478156.1,ENST00000463781.3,ENST00000479406.1,ENST00000466475.1,ENST00000475231.1,ENST00000477086.1,ENST00000480843.1,ENS
exon_skip_391171	3	195478077:195478142:195479243:195479317:195479921:195479974	195479243:195479317	ENSG00000145113.17	ENST00000308466.8,ENST00000448861.1,ENST00000339251.5,ENST00000415455.1,ENST00000392407.2,ENST00000349607.4,ENST00000346145.4,ENST00000478156.1,ENST00000463781.3,ENST00000479406.1,ENST00000466475.1,ENST00000475231.1,ENST00000477086.1,ENST00000480843.1,ENS
exon_skip_391177	3	195479921:195480101:195481083:195481243:195484017:195484199	195481083:195481243	ENSG00000145113.17	ENST00000308466.8,ENST00000339251.5,ENST00000415455.1,ENST00000349607.4,ENST00000346145.4,ENST00000463781.3,ENST00000466475.1,ENST00000475231.1,ENST00000477086.1,ENST00000480843.1,ENST00000470451.1,ENST00000462323.1,ENST00000477756.1
exon_skip_391184	3	195479921:195480101:195484017:195484199:195485994:195486132	195484017:195484199	ENSG00000145113.17	ENST00000448861.1,ENST00000392407.2,ENST00000478156.1
exon_skip_391187	3	195481083:195481243:195484017:195484199:195485994:195486132	195484017:195484199	ENSG00000145113.17	ENST00000308466.8,ENST00000339251.5,ENST00000415455.1,ENST00000349607.4,ENST00000346145.4,ENST00000463781.3,ENST00000466475.1,ENST00000475231.1,ENST00000477086.1,ENST00000480843.1,ENST00000470451.1,ENST00000462323.1,ENST00000477756.1
exon_skip_391191	3	195488354:195488456:195488957:195489125:195489725:195489816	195488957:195489125	ENSG00000145113.17	ENST00000308466.8,ENST00000448861.1,ENST00000339251.5,ENST00000415455.1,ENST00000392407.2,ENST00000349607.4,ENST00000346145.4,ENST00000478156.1,ENST00000463781.3,ENST00000479406.1,ENST00000466475.1,ENST00000475231.1,ENST00000477086.1,ENST00000480843.1,ENS
exon_skip_391192	3	195492140:195492320:195493533:195493622:195495892:195496023	195493533:195493622	ENSG00000145113.17	ENST00000448861.1,ENST00000392407.2,ENST00000349607.4,ENST00000346145.4,ENST00000478156.1,ENST00000463781.3,ENST00000479406.1,ENST00000466475.1,ENST00000475231.1,ENST00000477086.1,ENST00000462323.1
exon_skip_391199	3	195495920:195496023:195497086:195497242:195498522:195498611	195497086:195497242	ENSG00000145113.17	ENST00000308466.8,ENST00000339251.5,ENST00000415455.1,ENST00000392407.2,ENST00000349607.4,ENST00000346145.4,ENST00000478156.1,ENST00000463781.3,ENST00000479406.1,ENST00000466475.1,ENST00000477086.1,ENST00000477756.1
exon_skip_391200	3	195497086:195497242:195497548:195497757:195498522:195498611	195497548:195497757	ENSG00000145113.17	ENST00000448861.1
exon_skip_391278	3	195505173:195505326:195505660:195518368:195538606:195538728	195505660:195518368	ENSG00000145113.17	ENST00000478156.1,ENST00000463781.3,ENST00000479406.1,ENST00000466475.1,ENST00000475231.1,ENST00000477086.1,ENST00000480843.1,ENST00000470451.1,ENST00000462323.1,ENST00000477756.1

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 MUC4

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

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

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Infer the effects of exon skipping event on protein functional features for MUC4

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

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

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 MUC4

- 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-DD-A39Y-01	exon_skip_391192	195493534	195493622	195493602	195493602	Frame_Shift_Del	T	-	p.N4517fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_391278	195505661	195518368	195505663	195505663	Frame_Shift_Del	G	-	p.P4263fs
DLBC	TCGA-GR-7351-01	exon_skip_391278	195505661	195518368	195505762	195505763	Frame_Shift_Del	AG	-	p.4230_4230del
LIHC	TCGA-DD-A1EG-01	exon_skip_391278	195505661	195518368	195507316	195507316	Frame_Shift_Del	G	-	p.P3712fs
KIRC	TCGA-CW-5583-01	exon_skip_391278	195505661	195518368	195508221	195508221	Frame_Shift_Del	A	-	p.V3411fs
ESCA	TCGA-VR-A8EP-01	exon_skip_391278	195505661	195518368	195508450	195508450	Frame_Shift_Del	G	-	p.P3334fs
UCEC	TCGA-D1-A17H-01	exon_skip_391278	195505661	195518368	195508996	195508996	Frame_Shift_Del	G	-	p.P3152fs
LIHC	TCGA-DD-A1EG-01	exon_skip_391278	195505661	195518368	195509287	195509287	Frame_Shift_Del	T	-	p.N3055fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_391278	195505661	195518368	195509319	195509319	Frame_Shift_Del	G	-	p.T3044fs
LIHC	TCGA-DD-A3A0-01	exon_skip_391278	195505661	195518368	195509764	195509764	Frame_Shift_Del	G	-	p.P2896fs
KIRC	TCGA-B0-5694-01	exon_skip_391278	195505661	195518368	195509964	195509970	Frame_Shift_Del	ATGACCT	-	p.2828_2830del
KIRC	TCGA-B0-5700-01	exon_skip_391278	195505661	195518368	195510073	195510073	Frame_Shift_Del	G	-	p.A2793fs
LIHC	TCGA-EP-A26S-01	exon_skip_391278	195505661	195518368	195510230	195510230	Frame_Shift_Del	C	-	p.E2741fs
UCEC	TCGA-BG-A0M2-01	exon_skip_391278	195505661	195518368	195510230	195510230	Frame_Shift_Del	C	-	p.E2741fs
UCEC	TCGA-BG-A0W2-01	exon_skip_391278	195505661	195518368	195510230	195510230	Frame_Shift_Del	C	-	p.E2741fs
LIHC	TCGA-DD-A39Y-01	exon_skip_391278	195505661	195518368	195510244	195510244	Frame_Shift_Del	G	-	p.P2736fs
KIRC	TCGA-CJ-5675-01	exon_skip_391278	195505661	195518368	195510825	195510825	Frame_Shift_Del	G	-	p.T2543fs
LIHC	TCGA-DD-A39Y-01	exon_skip_391278	195505661	195518368	195511523	195511523	Frame_Shift_Del	C	-	p.A2310fs
ACC	TCGA-PK-A5HB-01	exon_skip_391278	195505661	195518368	195511828	195511828	Frame_Shift_Del	G	-	p.P2208fs
LIHC	TCGA-DD-A1EG-01	exon_skip_391278	195505661	195518368	195512020	195512020	Frame_Shift_Del	G	-	p.P2144fs
UCEC	TCGA-D1-A174-01	exon_skip_391278	195505661	195518368	195512020	195512020	Frame_Shift_Del	G	-	p.P2144fs
LIHC	TCGA-DD-A1EG-01	exon_skip_391278	195505661	195518368	195512068	195512068	Frame_Shift_Del	G	-	p.P2128fs
LIHC	TCGA-DD-A1EG-01	exon_skip_391278	195505661	195518368	195512596	195512596	Frame_Shift_Del	G	-	p.P1952fs
UCEC	TCGA-D1-A168-01	exon_skip_391278	195505661	195518368	195513271	195513271	Frame_Shift_Del	G	-	p.T1727fs
COAD	TCGA-G4-6586-01	exon_skip_391278	195505661	195518368	195513460	195513460	Frame_Shift_Del	G	-	p.P1664fs
KIRP	TCGA-2Z-A9J1-01	exon_skip_391278	195505661	195518368	195514228	195514228	Frame_Shift_Del	G	-	p.P1408fs
KIRP	TCGA-2Z-A9J1-01	exon_skip_391278	195505661	195518368	195514852	195514852	Frame_Shift_Del	G	-	p.P1200fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_391278	195505661	195518368	195515079	195515079	Frame_Shift_Del	G	-	p.T1124fs
LIHC	TCGA-DD-A39Y-01	exon_skip_391278	195505661	195518368	195515236	195515236	Frame_Shift_Del	G	-	p.P1072fs
BLCA	TCGA-FD-A6TF-01	exon_skip_391278	195505661	195518368	195516137	195516137	Frame_Shift_Del	G	-	p.H772fs
LIHC	TCGA-DD-A3A0-01	exon_skip_391278	195505661	195518368	195516276	195516276	Frame_Shift_Del	C	-	p.G725fs
LIHC	TCGA-DD-A39Y-01	exon_skip_391278	195505661	195518368	195516480	195516480	Frame_Shift_Del	G	-	p.P657fs
LIHC	TCGA-DD-A1EG-01	exon_skip_391278	195505661	195518368	195516538	195516538	Frame_Shift_Del	C	-	p.G638fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_391278	195505661	195518368	195516677	195516677	Frame_Shift_Del	T	-	p.T592fs
LIHC	TCGA-DD-A1EG-01	exon_skip_391278	195505661	195518368	195516878	195516878	Frame_Shift_Del	T	-	p.T525fs
DLBC	TCGA-GR-7351-01	exon_skip_391278	195505661	195518368	195505765	195505766	Frame_Shift_Ins	-	A	p.S4229fs
ESCA	TCGA-LN-A8I0-01	exon_skip_391278	195505661	195518368	195508454	195508455	Frame_Shift_Ins	-	C	p.P3333fs
ESCA	TCGA-LN-A8I0-01	exon_skip_391278	195505661	195518368	195508454	195508455	Frame_Shift_Ins	-	C	p.S3332fs
ESCA	TCGA-VR-A8EP-01	exon_skip_391278	195505661	195518368	195508454	195508455	Frame_Shift_Ins	-	C	p.P3333fs
ESCA	TCGA-VR-A8EP-01	exon_skip_391278	195505661	195518368	195508454	195508455	Frame_Shift_Ins	-	C	p.S3332fs
SARC	TCGA-DX-A8BV-01	exon_skip_391278	195505661	195518368	195508545	195508546	Frame_Shift_Ins	-	G	p.S3303fs
UCEC	TCGA-D1-A168-01	exon_skip_391278	195505661	195518368	195509640	195509641	Frame_Shift_Ins	-	G	p.V2937fs
UCEC	TCGA-D1-A168-01	exon_skip_391278	195505661	195518368	195509641	195509642	Frame_Shift_Ins	-	TG	p.V2937fs
UCEC	TCGA-BG-A0MG-01	exon_skip_391278	195505661	195518368	195510225	195510226	Frame_Shift_Ins	-	G	p.T2742fs
ESCA	TCGA-IG-A3QL-01	exon_skip_391278	195505661	195518368	195510227	195510228	Frame_Shift_Ins	-	G	p.F2742fs
ESCA	TCGA-IG-A3QL-01	exon_skip_391278	195505661	195518368	195510227	195510228	Frame_Shift_Ins	-	G	p.T2741fs
TGCT	TCGA-2G-AAFE-01	exon_skip_391278	195505661	195518368	195510227	195510228	Frame_Shift_Ins	-	G	p.F2742fs
UCEC	TCGA-BG-A0M2-01	exon_skip_391278	195505661	195518368	195510227	195510228	Frame_Shift_Ins	-	G	p.E2741fs
UCEC	TCGA-BG-A0W2-01	exon_skip_391278	195505661	195518368	195510227	195510228	Frame_Shift_Ins	-	G	p.E2741fs
KICH	TCGA-KL-8343-01	exon_skip_391278	195505661	195518368	195512280	195512281	Frame_Shift_Ins	-	G	p.V2057fs
UCEC	TCGA-D1-A168-01	exon_skip_391278	195505661	195518368	195513268	195513269	Frame_Shift_Ins	-	T	p.P1728fs
ACC	TCGA-P6-A5OG-01	exon_skip_391278	195505661	195518368	195513387	195513388	Frame_Shift_Ins	-	A	p.C1688fs
ACC	TCGA-P6-A5OG-01	exon_skip_391278	195505661	195518368	195513387	195513388	Frame_Shift_Ins	-	A	p.S1688fs
LIHC	TCGA-BC-A112-01	exon_skip_391278	195505661	195518368	195513596	195513597	Frame_Shift_Ins	-	A	p.H1619fs
UCEC	TCGA-D1-A16X-01	exon_skip_391192	195493534	195493622	195493607	195493607	Nonsense_Mutation	G	A	p.R4429*
SKCM	TCGA-YD-A9TA-06	exon_skip_391199	195497087	195497242	195497187	195497187	Nonsense_Mutation	C	T	p.W4433*
CESC	TCGA-Q1-A73O-01	exon_skip_391278	195505661	195518368	195508585	195508585	Nonsense_Mutation	G	C	p.S3289*
CESC	TCGA-JW-A5VL-01	exon_skip_391278	195505661	195518368	195509548	195509548	Nonsense_Mutation	G	C	p.S2968*
CESC	TCGA-IR-A3LK-01	exon_skip_391278	195505661	195518368	195510796	195510796	Nonsense_Mutation	G	T	p.S2552*
CESC	TCGA-IR-A3LK-01	exon_skip_391278	195505661	195518368	195511420	195511420	Nonsense_Mutation	G	C	p.S2344*
UCEC	TCGA-A5-A0R7-01	exon_skip_391278	195505661	195518368	195511852	195511852	Nonsense_Mutation	G	T	p.S2200*
CESC	TCGA-LP-A4AV-01	exon_skip_391278	195505661	195518368	195511900	195511900	Nonsense_Mutation	G	C	p.S2184*
CESC	TCGA-EK-A3GJ-01	exon_skip_391278	195505661	195518368	195512140	195512140	Nonsense_Mutation	G	C	p.S2104*
CESC	TCGA-EK-A3GJ-01	exon_skip_391278	195505661	195518368	195512284	195512284	Nonsense_Mutation	G	C	p.S2056*
CESC	TCGA-EK-A3GJ-01	exon_skip_391278	195505661	195518368	195512318	195512318	Nonsense_Mutation	G	A	p.Q2045*
ESCA	TCGA-IG-A3Y9-01	exon_skip_391278	195505661	195518368	195512668	195512668	Nonsense_Mutation	G	C	p.S1928*
CESC	TCGA-RA-A741-01	exon_skip_391278	195505661	195518368	195512956	195512956	Nonsense_Mutation	G	T	p.S1832*
PAAD	TCGA-IB-7888-01	exon_skip_391278	195505661	195518368	195515980	195515980	Nonsense_Mutation	G	T	p.S824*
PAAD	TCGA-IB-7888-01	exon_skip_391278	195505661	195518368	195515980	195515980	Nonsense_Mutation	G	T	p.S824X
BLCA	TCGA-DK-A3X1-01	exon_skip_391278	195505661	195518368	195516055	195516055	Nonsense_Mutation	G	T	p.S799*
LGG	TCGA-R8-A6MO-01	exon_skip_391278	195505661	195518368	195516065	195516065	Nonsense_Mutation	G	A	p.R796*
PAAD	TCGA-IB-7651-01	exon_skip_391278	195505661	195518368	195516521	195516521	Nonsense_Mutation	G	A	p.Q644*
PAAD	TCGA-IB-7651-01	exon_skip_391278	195505661	195518368	195516521	195516521	Nonsense_Mutation	G	A	p.Q644X
LUAD	TCGA-55-A4DF-01	exon_skip_391278	195505661	195518368	195516607	195516607	Nonsense_Mutation	G	C	p.S615*
SKCM	TCGA-QB-A6FS-06	exon_skip_391278	195505661	195518368	195516761	195516761	Nonsense_Mutation	G	A	p.Q564*
SKCM	TCGA-QB-A6FS-06	exon_skip_391278	195505661	195518368	195516761	195516761	Nonsense_Mutation	G	A	p.Q564X
UCEC	TCGA-AX-A0J0-01	exon_skip_391278	195505661	195518368	195516941	195516941	Nonsense_Mutation	C	A	p.E504*
SKCM	TCGA-FR-A726-01	exon_skip_391278	195505661	195518368	195517442	195517442	Nonsense_Mutation	G	A	p.Q337*
SKCM	TCGA-GN-A266-06	exon_skip_391278	195505661	195518368	195517442	195517442	Nonsense_Mutation	G	A	p.Q337*
HNSC	TCGA-CN-4741-01	exon_skip_391278	195505661	195518368	195517519	195517519	Nonsense_Mutation	G	C	p.S311*
SKCM	TCGA-W3-A824-06	exon_skip_391278	195505661	195518368	195517855	195517855	Nonsense_Mutation	C	T	p.W199*
LUSC	TCGA-43-2578-01	exon_skip_391177	195481084	195481243	195481244	195481244	Splice_Site	C	A	p.V5057_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
IHH4_THYROID	195475773	195475935	195475908	195475911	Frame_Shift_Del	AAGT	-	p.YF1063fs
C33A_CERVIX	195505661	195518368	195511108	195511108	Frame_Shift_Del	G	-	p.P2448fs
DU4475_BREAST	195505661	195518368	195511348	195511348	Frame_Shift_Del	G	-	p.P2368fs
NCIH82_LUNG	195505661	195518368	195512782	195512782	Frame_Shift_Del	G	-	p.P1890fs
NCIH1755_LUNG	195505661	195518368	195513470	195513471	Frame_Shift_Del	GA	-	p.H1661fs
22RV1_PROSTATE	195505661	195518368	195517312	195517312	Frame_Shift_Del	G	-	p.P380fs
NCIH1781_LUNG	195488958	195489125	195489088	195489089	Frame_Shift_Ins	-	A	p.S558fs
MCAS_OVARY	195505661	195518368	195512644	195512645	Frame_Shift_Ins	-	A	p.P1936fs
22RV1_PROSTATE	195505661	195518368	195515091	195515092	Frame_Shift_Ins	-	G	p.P1120fs
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195507318	195507320	In_Frame_Del	GGT	-	p.T3711del
MYLA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195508074	195508076	In_Frame_Del	GAC	-	p.V3459del
HCC2157_BREAST	195505661	195518368	195514485	195514486	In_Frame_Ins	-	GAT	p.1322_1322S>SS
NB5_AUTONOMIC_GANGLIA	195505661	195518368	195514485	195514486	In_Frame_Ins	-	GAT	p.1322_1322S>SS
MDAPCA2B_PROSTATE	195475773	195475935	195475858	195475858	Missense_Mutation	C	A	p.G1081C
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195475773	195475935	195475869	195475869	Missense_Mutation	C	T	p.S1077N
SNU1040_LARGE_INTESTINE	195475773	195475935	195475882	195475882	Missense_Mutation	C	T	p.D1073N
SNU81_LARGE_INTESTINE	195479244	195479317	195479274	195479274	Missense_Mutation	T	G	p.E948D
639V_URINARY_TRACT	195481084	195481243	195481086	195481086	Missense_Mutation	G	A	p.A873V
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195481084	195481243	195481188	195481188	Missense_Mutation	T	C	p.E839G
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195481084	195481243	195481188	195481188	Missense_Mutation	T	C	p.E839G
NCIH2141_LUNG	195481084	195481243	195481196	195481196	Missense_Mutation	C	G	p.E836D
A431_SKIN	195481084	195481243	195481198	195481198	Missense_Mutation	C	T	p.E836K
KYSE30_OESOPHAGUS	195481084	195481243	195481236	195481236	Missense_Mutation	C	T	p.G823D
TGBC11TKB_STOMACH	195488958	195489125	195489066	195489066	Missense_Mutation	C	T	p.A566T
M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195488958	195489125	195489087	195489087	Missense_Mutation	G	A	p.R559C
DU145_PROSTATE	195488958	195489125	195489116	195489116	Missense_Mutation	G	A	p.T549M
HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195493534	195493622	195493608	195493609	Missense_Mutation	AA	TT	p.F279N
HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195493534	195493622	195493608	195493608	Missense_Mutation	A	T	p.F279Y
HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195493534	195493622	195493608	195493609	Missense_Mutation	AA	TT	p.F279N
HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195493534	195493622	195493609	195493609	Missense_Mutation	A	T	p.F279I
HUPT4_PANCREAS	195493534	195493622	195493611	195493611	Missense_Mutation	T	C	p.Y278C
SNU349_KIDNEY	195497087	195497242	195497113	195497113	Missense_Mutation	C	T	p.A222T
SNU175_LARGE_INTESTINE	195497087	195497242	195497118	195497118	Missense_Mutation	G	A	p.A220V
GP2D_LARGE_INTESTINE	195497087	195497242	195497172	195497172	Missense_Mutation	G	A	p.T202I
GP5D_LARGE_INTESTINE	195497087	195497242	195497172	195497172	Missense_Mutation	G	A	p.T202I
CCK81_LARGE_INTESTINE	195505661	195518368	195505802	195505802	Missense_Mutation	C	T	p.A4217T
BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195505802	195505802	Missense_Mutation	C	A	p.A4217S
EFO21_OVARY	195505661	195518368	195505843	195505843	Missense_Mutation	G	A	p.T4203I
RCM1_LARGE_INTESTINE	195505661	195518368	195505843	195505843	Missense_Mutation	G	A	p.T4203I
PANC0504_PANCREAS	195505661	195518368	195505913	195505913	Missense_Mutation	T	C	p.T4180A
D423MG_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195505918	195505918	Missense_Mutation	G	T	p.P4178H
GIMEN_AUTONOMIC_GANGLIA	195505661	195518368	195505918	195505918	Missense_Mutation	G	T	p.P4178H
COLO792_SKIN	195505661	195518368	195505967	195505967	Missense_Mutation	G	C	p.P4162A
OCUM1_STOMACH	195505661	195518368	195505984	195505984	Missense_Mutation	C	A	p.G4156V
EVSAT_BREAST	195505661	195518368	195505987	195505987	Missense_Mutation	G	A	p.S4155L
MDAMB330_BREAST	195505661	195518368	195505987	195505987	Missense_Mutation	G	A	p.S4155L
NCIH2085_LUNG	195505661	195518368	195505997	195505997	Missense_Mutation	A	T	p.S4152T
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195506023	195506023	Missense_Mutation	G	A	p.T4143M
BT474_BREAST	195505661	195518368	195506066	195506066	Missense_Mutation	G	A	p.L4129F
L33_PANCREAS	195505661	195518368	195506098	195506098	Missense_Mutation	G	A	p.T4118I
NCIH1781_LUNG	195505661	195518368	195506098	195506098	Missense_Mutation	G	A	p.T4118I
NCIH1963_LUNG	195505661	195518368	195506111	195506111	Missense_Mutation	G	A	p.P4114S
HCC1954_BREAST	195505661	195518368	195506119	195506119	Missense_Mutation	G	T	p.T4111K
HCC1954_MATCHED_NORMAL_TISSUE	195505661	195518368	195506119	195506119	Missense_Mutation	G	T	p.T4111K
SCH_STOMACH	195505661	195518368	195506198	195506198	Missense_Mutation	C	T	p.D4085N
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195506336	195506336	Missense_Mutation	A	G	p.S4039P
C10_LARGE_INTESTINE	195505661	195518368	195506369	195506369	Missense_Mutation	C	T	p.G4028S
NCIH1048_LUNG	195505661	195518368	195506407	195506407	Missense_Mutation	G	T	p.T4015N
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195506419	195506419	Missense_Mutation	G	A	p.T4011I
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195506422	195506422	Missense_Mutation	G	C	p.S4010C
OVCA420_OVARY	195505661	195518368	195506458	195506458	Missense_Mutation	G	A	p.A3998V
JHUEM1_ENDOMETRIUM	195505661	195518368	195506512	195506512	Missense_Mutation	C	T	p.G3980D
DMS114_LUNG	195505661	195518368	195506572	195506572	Missense_Mutation	G	A	p.S3960L
NCIH1092_LUNG	195505661	195518368	195506588	195506588	Missense_Mutation	C	A	p.V3955F
UMUC16_URINARY_TRACT	195505661	195518368	195506591	195506591	Missense_Mutation	G	C	p.P3954A
A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195506629	195506630	Missense_Mutation	CT	TC	p.S3941D
JHH2_LIVER	195505661	195518368	195506629	195506630	Missense_Mutation	CT	TC	p.S3941D
RH41_SOFT_TISSUE	195505661	195518368	195506629	195506630	Missense_Mutation	CT	TC	p.S3941D
NCIH1793_LUNG	195505661	195518368	195506638	195506638	Missense_Mutation	G	T	p.P3938H
NCIH28_PLEURA	195505661	195518368	195506645	195506645	Missense_Mutation	G	A	p.P3936S
TE441T_SOFT_TISSUE	195505661	195518368	195506645	195506645	Missense_Mutation	G	A	p.P3936S
SW620_LARGE_INTESTINE	195505661	195518368	195506654	195506654	Missense_Mutation	G	A	p.H3933Y
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195506735	195506735	Missense_Mutation	G	A	p.P3906S
201T_LUNG	195505661	195518368	195506738	195506738	Missense_Mutation	G	C	p.L3905V
SW626_OVARY	195505661	195518368	195506830	195506830	Missense_Mutation	G	A	p.P3874L
NTERA2CLD1_TESTIS	195505661	195518368	195506831	195506831	Missense_Mutation	G	C	p.P3874A
NCIH2347_LUNG	195505661	195518368	195506837	195506837	Missense_Mutation	G	T	p.P3872T
C3A_LIVER	195505661	195518368	195506842	195506843	Missense_Mutation	GC	AT	p.A3870I
CGTHW1_THYROID	195505661	195518368	195506842	195506843	Missense_Mutation	GC	AT	p.A3870I
DOHH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195506842	195506843	Missense_Mutation	GC	AT	p.A3870I
HCC2998_LARGE_INTESTINE	195505661	195518368	195506842	195506843	Missense_Mutation	GC	AT	p.A3870I
SCC25_UPPER_AERODIGESTIVE_TRACT	195505661	195518368	195506842	195506843	Missense_Mutation	GC	AT	p.A3870I
SKMEL3_SKIN	195505661	195518368	195506842	195506843	Missense_Mutation	GC	AT	p.A3870I
NCIH748_LUNG	195505661	195518368	195507022	195507022	Missense_Mutation	G	T	p.P3810H
NCIH69_LUNG	195505661	195518368	195507028	195507028	Missense_Mutation	G	C	p.P3808R
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195507038	195507038	Missense_Mutation	G	T	p.Q3805K
RKO_LARGE_INTESTINE	195505661	195518368	195507060	195507060	Missense_Mutation	G	T	p.D3797E
CAPAN2_PANCREAS	195505661	195518368	195507088	195507088	Missense_Mutation	C	T	p.G3788D
MDAMB361_BREAST	195505661	195518368	195507100	195507100	Missense_Mutation	G	A	p.S3784L
A172_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195507139	195507139	Missense_Mutation	G	T	p.T3771K
EN_ENDOMETRIUM	195505661	195518368	195507152	195507152	Missense_Mutation	A	G	p.S3767P
HKA1_SKIN	195505661	195518368	195507220	195507220	Missense_Mutation	G	A	p.P3744L
KYSE30_OESOPHAGUS	195505661	195518368	195507220	195507220	Missense_Mutation	G	A	p.P3744L
RERFGC1B_STOMACH	195505661	195518368	195507220	195507220	Missense_Mutation	G	A	p.P3744L
CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195507220	195507220	Missense_Mutation	G	A	p.P3744L
DSH1_URINARY_TRACT	195505661	195518368	195507220	195507220	Missense_Mutation	G	A	p.P3744L
HUPT4_PANCREAS	195505661	195518368	195507220	195507220	Missense_Mutation	G	A	p.P3744L
MOLM16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195507220	195507220	Missense_Mutation	G	A	p.P3744L
TGBC1TKB_BILIARY_TRACT	195505661	195518368	195507220	195507220	Missense_Mutation	G	A	p.P3744L
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195507220	195507220	Missense_Mutation	G	A	p.P3744L
HCC2998_LARGE_INTESTINE	195505661	195518368	195507256	195507256	Missense_Mutation	G	C	p.T3732S
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195507278	195507278	Missense_Mutation	G	A	p.H3725Y
YAMATO_SOFT_TISSUE	195505661	195518368	195507281	195507281	Missense_Mutation	C	G	p.G3724R
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195507286	195507286	Missense_Mutation	G	C	p.S3722C
COLO792_SKIN	195505661	195518368	195507311	195507311	Missense_Mutation	G	A	p.P3714S
KD_SOFT_TISSUE	195505661	195518368	195507550	195507550	Missense_Mutation	G	A	p.P3634L
MELHO_SKIN	195505661	195518368	195507550	195507550	Missense_Mutation	G	A	p.P3634L
HCE4_OESOPHAGUS	195505661	195518368	195507587	195507587	Missense_Mutation	T	G	p.T3622P
NCIH2196_LUNG	195505661	195518368	195507601	195507601	Missense_Mutation	A	C	p.L3617R
SNU1197_LARGE_INTESTINE	195505661	195518368	195507736	195507736	Missense_Mutation	G	T	p.T3572N
BT474_BREAST	195505661	195518368	195507746	195507746	Missense_Mutation	G	A	p.L3569F
UCH2_BONE	195505661	195518368	195507782	195507782	Missense_Mutation	C	T	p.D3557N
NCIH810_LUNG	195505661	195518368	195507796	195507796	Missense_Mutation	G	C	p.P3552R
HCC2429_LUNG	195505661	195518368	195507802	195507802	Missense_Mutation	G	A	p.T3550I
HCT15_LARGE_INTESTINE	195505661	195518368	195507818	195507818	Missense_Mutation	C	T	p.V3545I
AM38_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195507880	195507880	Missense_Mutation	G	C	p.T3524S
SNU387_LIVER	195505661	195518368	195507892	195507892	Missense_Mutation	G	A	p.P3520L
HEC1A_ENDOMETRIUM	195505661	195518368	195507892	195507892	Missense_Mutation	G	A	p.P3520L
SNU407_LARGE_INTESTINE	195505661	195518368	195507892	195507892	Missense_Mutation	G	A	p.P3520L
AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195507892	195507892	Missense_Mutation	G	A	p.P3520L
GAK_SKIN	195505661	195518368	195507892	195507892	Missense_Mutation	G	A	p.P3520L
HEC1_ENDOMETRIUM	195505661	195518368	195507892	195507892	Missense_Mutation	G	A	p.P3520L
JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195507892	195507892	Missense_Mutation	G	A	p.P3520L
CORL311_LUNG	195505661	195518368	195507907	195507907	Missense_Mutation	G	C	p.T3515S
NCIH1876_LUNG	195505661	195518368	195507914	195507914	Missense_Mutation	C	A	p.A3513S
JIYOYEP2003_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195507922	195507923	Missense_Mutation	GC	AT	p.A3510I
ALLPO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195507940	195507940	Missense_Mutation	G	C	p.T3504S
CW9019_SOFT_TISSUE	195505661	195518368	195507985	195507985	Missense_Mutation	A	T	p.L3489H
LB2518MEL_SKIN	195505661	195518368	195507991	195507991	Missense_Mutation	G	A	p.T3487I
NCIH1651_LUNG	195505661	195518368	195507992	195507992	Missense_Mutation	T	G	p.T3487P
NCIH1651_LUNG	195505661	195518368	195507994	195507994	Missense_Mutation	G	T	p.T3486N
MCCAR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195507994	195507994	Missense_Mutation	G	T	p.T3486N
NCIH2171_LUNG	195505661	195518368	195508016	195508016	Missense_Mutation	A	T	p.S3479T
EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195508036	195508036	Missense_Mutation	G	C	p.P3472R
R262_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195508042	195508042	Missense_Mutation	G	T	p.T3470N
MB1_THYROID	195505661	195518368	195508051	195508051	Missense_Mutation	G	T	p.T3467K
NCIH647_LUNG	195505661	195518368	195508051	195508051	Missense_Mutation	G	T	p.T3467K
ME180_CERVIX	195505661	195518368	195508051	195508051	Missense_Mutation	G	T	p.T3467K
UMC11_LUNG	195505661	195518368	195508051	195508051	Missense_Mutation	G	T	p.T3467K
HT1376_URINARY_TRACT	195505661	195518368	195508054	195508054	Missense_Mutation	G	T	p.S3466Y
EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195508064	195508064	Missense_Mutation	A	G	p.S3463P
SNU407_LARGE_INTESTINE	195505661	195518368	195508064	195508064	Missense_Mutation	A	T	p.S3463T
EN_ENDOMETRIUM	195505661	195518368	195508107	195508108	Missense_Mutation	TG	CA	p.S3448L
LB996EBV_MATCHED_NORMAL_TISSUE	195505661	195518368	195508145	195508145	Missense_Mutation	C	G	p.G3436R
LB996RCC_KIDNEY	195505661	195518368	195508145	195508145	Missense_Mutation	C	G	p.G3436R
786O_KIDNEY	195505661	195518368	195508157	195508157	Missense_Mutation	A	C	p.S3432A
KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195508177	195508177	Missense_Mutation	A	G	p.L3425P
SNGM_ENDOMETRIUM	195505661	195518368	195508177	195508177	Missense_Mutation	A	G	p.L3425P
ETK1_BILIARY_TRACT	195505661	195518368	195508180	195508180	Missense_Mutation	G	A	p.P3424L
MFM223_BREAST	195505661	195518368	195508183	195508183	Missense_Mutation	G	T	p.T3423N
EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195508187	195508188	Missense_Mutation	CG	TC	p.3421_3422HA>QT
COLO783_SKIN	195505661	195518368	195508207	195508207	Missense_Mutation	G	A	p.S3415F
RT112_URINARY_TRACT	195505661	195518368	195508226	195508226	Missense_Mutation	G	C	p.L3409V
CAMA1_BREAST	195505661	195518368	195508226	195508226	Missense_Mutation	G	C	p.L3409V
C10_LARGE_INTESTINE	195505661	195518368	195508230	195508231	Missense_Mutation	CA	GG	p.M3407T
NCIH322_LUNG	195505661	195518368	195508230	195508231	Missense_Mutation	CA	GG	p.M3407T
SKCO1_LARGE_INTESTINE	195505661	195518368	195508230	195508231	Missense_Mutation	CA	GG	p.M3407T
UMC11_LUNG	195505661	195518368	195508230	195508230	Missense_Mutation	C	G	p.M3407I
KYSE50_OESOPHAGUS	195505661	195518368	195508250	195508250	Missense_Mutation	C	T	p.V3401I
BB49EBV_MATCHED_NORMAL_TISSUE	195505661	195518368	195508260	195508260	Missense_Mutation	G	T	p.N3397K
BB49HNC_UPPER_AERODIGESTIVE_TRACT	195505661	195518368	195508260	195508260	Missense_Mutation	G	T	p.N3397K
JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195508261	195508261	Missense_Mutation	T	A	p.N3397I
MB1_THYROID	195505661	195518368	195508262	195508262	Missense_Mutation	T	C	p.N3397D
SNU449_LIVER	195505661	195518368	195508262	195508262	Missense_Mutation	T	C	p.N3397D
KYSE180_OESOPHAGUS	195505661	195518368	195508276	195508276	Missense_Mutation	G	A	p.P3392L
KYSE180_OESOPHAGUS	195505661	195518368	195508276	195508277	Missense_Mutation	GG	AA	p.P3392F
MDAMB175VII_BREAST	195505661	195518368	195508303	195508303	Missense_Mutation	G	C	p.S3383C
UMUC6_URINARY_TRACT	195505661	195518368	195508319	195508319	Missense_Mutation	G	T	p.P3378T
BICR22_UPPER_AERODIGESTIVE_TRACT	195505661	195518368	195508361	195508361	Missense_Mutation	T	C	p.T3364A
NCIH810_LUNG	195505661	195518368	195508390	195508390	Missense_Mutation	G	C	p.S3354C
NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195508415	195508415	Missense_Mutation	G	T	p.P3346T
NCIH1618_LUNG	195505661	195518368	195508436	195508436	Missense_Mutation	T	A	p.T3339S
RCCER_KIDNEY	195505661	195518368	195508471	195508471	Missense_Mutation	G	T	p.T3327N
MZ7MEL_SKIN	195505661	195518368	195508543	195508543	Missense_Mutation	G	A	p.S3303F
KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195508570	195508570	Missense_Mutation	G	C	p.T3294S
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195508624	195508624	Missense_Mutation	C	T	p.G3276D
NCIH2171_LUNG	195505661	195518368	195508726	195508726	Missense_Mutation	G	A	p.S3242F
GP2D_LARGE_INTESTINE	195505661	195518368	195508759	195508759	Missense_Mutation	G	A	p.T3231M
RVH421_SKIN	195505661	195518368	195509039	195509039	Missense_Mutation	G	A	p.P3138S
NCIH1581_LUNG	195505661	195518368	195509044	195509044	Missense_Mutation	G	C	p.A3136G
SNU283_LARGE_INTESTINE	195505661	195518368	195509072	195509072	Missense_Mutation	A	C	p.S3127A
NCIH748_LUNG	195505661	195518368	195509075	195509075	Missense_Mutation	T	C	p.T3126A
NB17_AUTONOMIC_GANGLIA	195505661	195518368	195509084	195509084	Missense_Mutation	C	T	p.V3123I
HEC1A_ENDOMETRIUM	195505661	195518368	195509092	195509092	Missense_Mutation	G	T	p.P3120H
HEC1_ENDOMETRIUM	195505661	195518368	195509092	195509093	Missense_Mutation	GG	TA	p.P3120Y
COLO783_SKIN	195505661	195518368	195509134	195509134	Missense_Mutation	G	A	p.P3106L
MOGGUVW_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195509134	195509134	Missense_Mutation	G	A	p.P3106L
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509138	195509138	Missense_Mutation	G	A	p.L3105F
OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509152	195509152	Missense_Mutation	C	T	p.G3100D
RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509167	195509167	Missense_Mutation	G	T	p.S3095Y
HCC1599_BREAST	195505661	195518368	195509170	195509170	Missense_Mutation	A	C	p.L3094R
TC205_BONE	195505661	195518368	195509172	195509172	Missense_Mutation	G	C	p.S3093R
NCIH146_LUNG	195505661	195518368	195509172	195509172	Missense_Mutation	G	C	p.S3093R
D542MG_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195509177	195509177	Missense_Mutation	T	A	p.T3092S
L542_MATCHED_NORMAL_TISSUE	195505661	195518368	195509177	195509177	Missense_Mutation	T	A	p.T3092S
SNUC2A_LARGE_INTESTINE	195505661	195518368	195509200	195509200	Missense_Mutation	C	A	p.G3084V
LU165_LUNG	195505661	195518368	195509200	195509200	Missense_Mutation	C	A	p.G3084V
PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509200	195509200	Missense_Mutation	C	A	p.G3084V
SNU175_LARGE_INTESTINE	195505661	195518368	195509200	195509200	Missense_Mutation	C	A	p.G3084V
SNUC2B_LARGE_INTESTINE	195505661	195518368	195509200	195509200	Missense_Mutation	C	A	p.G3084V
OV7_OVARY	195505661	195518368	195509212	195509213	Missense_Mutation	GA	AC	p.S3080V
IPC298_SKIN	195505661	195518368	195509215	195509215	Missense_Mutation	G	A	p.S3079F
J82_MATCHED_NORMAL_TISSUE	195505661	195518368	195509236	195509236	Missense_Mutation	G	A	p.P3072L
COLO794_SKIN	195505661	195518368	195509239	195509239	Missense_Mutation	G	A	p.T3071I
TE15_OESOPHAGUS	195505661	195518368	195509258	195509258	Missense_Mutation	C	G	p.A3065P
U2OS_BONE	195505661	195518368	195509261	195509261	Missense_Mutation	A	T	p.S3064T
EFO21_OVARY	195505661	195518368	195509270	195509270	Missense_Mutation	T	G	p.S3061R
CAL120_BREAST	195505661	195518368	195509290	195509290	Missense_Mutation	G	C	p.A3054G
EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509291	195509291	Missense_Mutation	C	T	p.A3054T
SW1271_LUNG	195505661	195518368	195509296	195509296	Missense_Mutation	C	T	p.G3052D
UACC812_BREAST	195505661	195518368	195509323	195509323	Missense_Mutation	A	T	p.V3043D
C4I_CERVIX	195505661	195518368	195509324	195509324	Missense_Mutation	C	T	p.V3043I
J82_MATCHED_NORMAL_TISSUE	195505661	195518368	195509332	195509332	Missense_Mutation	G	A	p.P3040L
J82_URINARY_TRACT	195505661	195518368	195509332	195509332	Missense_Mutation	G	A	p.P3040L
TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509342	195509342	Missense_Mutation	G	C	p.H3037D
ISTMEL1_SKIN	195505661	195518368	195509414	195509414	Missense_Mutation	C	T	p.D3013N
SKMEL2_SKIN	195505661	195518368	195509416	195509416	Missense_Mutation	G	A	p.T3012I
201T_LUNG	195505661	195518368	195509428	195509429	Missense_Mutation	GA	AG	p.S3008L
A549_LUNG	195505661	195518368	195509428	195509429	Missense_Mutation	GA	AG	p.S3008L
HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509428	195509429	Missense_Mutation	GA	AG	p.S3008L
JHU028_LUNG	195505661	195518368	195509428	195509429	Missense_Mutation	GA	AG	p.S3008L
RL952_ENDOMETRIUM	195505661	195518368	195509428	195509429	Missense_Mutation	GA	AG	p.S3008L
SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509428	195509429	Missense_Mutation	GA	AG	p.S3008L
TE15_OESOPHAGUS	195505661	195518368	195509428	195509429	Missense_Mutation	GA	AG	p.S3008L
BICR78_UPPER_AERODIGESTIVE_TRACT	195505661	195518368	195509431	195509431	Missense_Mutation	G	A	p.T3007I
NCIH847_LUNG	195505661	195518368	195509438	195509438	Missense_Mutation	G	T	p.H3005N
NCIH1876_LUNG	195505661	195518368	195509440	195509440	Missense_Mutation	C	G	p.G3004A
NCIH2171_LUNG	195505661	195518368	195509446	195509446	Missense_Mutation	G	A	p.S3002F
BB65EBV_MATCHED_NORMAL_TISSUE	195505661	195518368	195509467	195509467	Missense_Mutation	A	T	p.V2995D
BB65RCC_KIDNEY	195505661	195518368	195509467	195509467	Missense_Mutation	A	T	p.V2995D
ASPC1_PANCREAS	195505661	195518368	195509482	195509482	Missense_Mutation	G	A	p.A2990V
NCIH513_PLEURA	195505661	195518368	195509483	195509483	Missense_Mutation	C	T	p.A2990T
NCIH345_LUNG	195505661	195518368	195509491	195509491	Missense_Mutation	G	A	p.T2987I
SW756_CERVIX	195505661	195518368	195509500	195509500	Missense_Mutation	G	A	p.S2984L
NCIH441_LUNG	195505661	195518368	195509522	195509522	Missense_Mutation	G	C	p.L2977V
JHH6_LIVER	195505661	195518368	195509539	195509539	Missense_Mutation	G	C	p.T2971R
EFO21_OVARY	195505661	195518368	195509539	195509539	Missense_Mutation	G	A	p.T2971I
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509539	195509539	Missense_Mutation	G	C	p.T2971R
SISO_CERVIX	195505661	195518368	195509539	195509539	Missense_Mutation	G	C	p.T2971R
HS274T_BREAST	195505661	195518368	195509559	195509560	Missense_Mutation	GG	CT	p.T2964K
A549_LUNG	195505661	195518368	195509559	195509560	Missense_Mutation	GG	CT	p.T2964K
HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509559	195509560	Missense_Mutation	GG	CT	p.T2964K
JHU028_LUNG	195505661	195518368	195509559	195509560	Missense_Mutation	GG	CT	p.T2964K
NCIH3122_LUNG	195505661	195518368	195509559	195509560	Missense_Mutation	GG	CT	p.T2964K
SUPB8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509559	195509560	Missense_Mutation	GG	CT	p.T2964K
SW780_URINARY_TRACT	195505661	195518368	195509559	195509560	Missense_Mutation	GG	CT	p.T2964K
JEG3_PLACENTA	195505661	195518368	195509561	195509561	Missense_Mutation	T	G	p.T2964P
HDQP1_BREAST	195505661	195518368	195509570	195509570	Missense_Mutation	G	T	p.L2961I
KGN_OVARY	195505661	195518368	195509575	195509575	Missense_Mutation	G	T	p.T2959N
SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509578	195509578	Missense_Mutation	G	A	p.A2958V
GCT_SOFT_TISSUE	195505661	195518368	195509584	195509584	Missense_Mutation	C	T	p.G2956D
HEC1_ENDOMETRIUM	195505661	195518368	195509599	195509599	Missense_Mutation	G	A	p.S2951F
PC9_LUNG	195505661	195518368	195509615	195509615	Missense_Mutation	G	T	p.P2946T
SCC25_UPPER_AERODIGESTIVE_TRACT	195505661	195518368	195509621	195509621	Missense_Mutation	G	C	p.P2944A
SW579_THYROID	195505661	195518368	195509621	195509621	Missense_Mutation	G	C	p.P2944A
CGTHW1_THYROID	195505661	195518368	195509621	195509621	Missense_Mutation	G	C	p.P2944A
DOHH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509621	195509621	Missense_Mutation	G	C	p.P2944A
HCC2998_LARGE_INTESTINE	195505661	195518368	195509621	195509621	Missense_Mutation	G	C	p.P2944A
QIMRWIL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509621	195509621	Missense_Mutation	G	C	p.P2944A
SW982_SOFT_TISSUE	195505661	195518368	195509621	195509621	Missense_Mutation	G	C	p.P2944A
C3A_LIVER	195505661	195518368	195509621	195509621	Missense_Mutation	G	C	p.P2944A
SNUC5_LARGE_INTESTINE	195505661	195518368	195509674	195509674	Missense_Mutation	G	A	p.A2926V
NCIH2030_LUNG	195505661	195518368	195509675	195509676	Missense_Mutation	CC	TG	p.2925_2926QA>HT
ASH3_THYROID	195505661	195518368	195509680	195509680	Missense_Mutation	C	A	p.G2924V
LU135_LUNG	195505661	195518368	195509680	195509680	Missense_Mutation	C	A	p.G2924V
SW1417_LARGE_INTESTINE	195505661	195518368	195509683	195509683	Missense_Mutation	G	A	p.T2923I
769P_KIDNEY	195505661	195518368	195509701	195509701	Missense_Mutation	T	A	p.D2917V
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509701	195509701	Missense_Mutation	T	A	p.D2917V
A2780_OVARY	195505661	195518368	195509711	195509711	Missense_Mutation	G	A	p.P2914S
NCIH1963_LUNG	195505661	195518368	195509711	195509711	Missense_Mutation	G	A	p.P2914S
MB1_THYROID	195505661	195518368	195509716	195509716	Missense_Mutation	G	C	p.P2912R
HCC1954_BREAST	195505661	195518368	195509719	195509719	Missense_Mutation	G	T	p.T2911K
HCC1954_MATCHED_NORMAL_TISSUE	195505661	195518368	195509719	195509719	Missense_Mutation	G	T	p.T2911K
KE39_STOMACH	195505661	195518368	195509771	195509771	Missense_Mutation	C	T	p.A2894T
KLE_ENDOMETRIUM	195505661	195518368	195509771	195509771	Missense_Mutation	C	T	p.A2894T
LU99_LUNG	195505661	195518368	195509771	195509771	Missense_Mutation	C	T	p.A2894T
NCIH1770_LUNG	195505661	195518368	195509777	195509777	Missense_Mutation	C	T	p.G2892S
BFTC905_URINARY_TRACT	195505661	195518368	195509798	195509798	Missense_Mutation	C	T	p.D2885N
NCIH513_PLEURA	195505661	195518368	195509798	195509798	Missense_Mutation	C	T	p.D2885N
NCIH64_LUNG	195505661	195518368	195509798	195509798	Missense_Mutation	C	T	p.D2885N
HPAFII_PANCREAS	195505661	195518368	195509819	195509820	Missense_Mutation	CA	TG	p.A2878T
SW756_CERVIX	195505661	195518368	195509822	195509822	Missense_Mutation	G	A	p.H2877Y
L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509837	195509837	Missense_Mutation	A	T	p.S2872T
EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509848	195509848	Missense_Mutation	G	C	p.T2868S
SNGM_ENDOMETRIUM	195505661	195518368	195509854	195509854	Missense_Mutation	G	T	p.P2866H
KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509854	195509854	Missense_Mutation	G	A	p.P2866L
COLO824_BREAST	195505661	195518368	195509878	195509878	Missense_Mutation	G	A	p.S2858F
DOK_UPPER_AERODIGESTIVE_TRACT	195505661	195518368	195509878	195509878	Missense_Mutation	G	A	p.S2858F
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195509878	195509878	Missense_Mutation	G	A	p.S2858F
NCIH250_LUNG	195505661	195518368	195509878	195509878	Missense_Mutation	G	A	p.S2858F
SUM149PT_BREAST	195505661	195518368	195509930	195509930	Missense_Mutation	C	A	p.A2841S
SW13_ADRENAL_CORTEX	195505661	195518368	195509935	195509935	Missense_Mutation	G	A	p.S2839F
NCIH2342_LUNG	195505661	195518368	195510044	195510044	Missense_Mutation	C	T	p.V2803I
NCIH2342_LUNG	195505661	195518368	195510056	195510056	Missense_Mutation	T	A	p.T2799S
ESO26_OESOPHAGUS	195505661	195518368	195510067	195510067	Missense_Mutation	G	C	p.T2795R
HA7EBV_MATCHED_NORMAL_TISSUE	195505661	195518368	195510092	195510092	Missense_Mutation	C	A	p.V2787F
HA7RCC_KIDNEY	195505661	195518368	195510092	195510092	Missense_Mutation	C	A	p.V2787F
MEWO_SKIN	195505661	195518368	195510100	195510100	Missense_Mutation	G	A	p.P2784L
LS123_LARGE_INTESTINE	195505661	195518368	195510124	195510124	Missense_Mutation	G	A	p.S2776L
NCIH1155_LUNG	195505661	195518368	195510148	195510148	Missense_Mutation	G	T	p.P2768H
D247MG_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195510148	195510148	Missense_Mutation	G	T	p.P2768H
HCC1599_BREAST	195505661	195518368	195510148	195510148	Missense_Mutation	G	T	p.P2768H
NCIH596_LUNG	195505661	195518368	195510148	195510148	Missense_Mutation	G	T	p.P2768H
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	195505661	195518368	195510167	195510167	Missense_Mutation	A	G	p.S2762P
ASPC1_PANCREAS	195505661	195518368	195510362	195510362	Missense_Mutation	C	A	p.A2697S
PANC1005_PANCREAS	195505661	195518368	195510380	195510380	Missense_Mutation	C	T	p.V2691I
H4_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195510490	195510490	Missense_Mutation	G	T	p.A2654D
KYSE70_OESOPHAGUS	195505661	195518368	195510490	195510490	Missense_Mutation	G	T	p.A2654D
ASH3_THYROID	195505661	195518368	195510631	195510631	Missense_Mutation	G	T	p.T2607N
FU97_STOMACH	195505661	195518368	195510631	195510631	Missense_Mutation	G	T	p.T2607N
LU135_LUNG	195505661	195518368	195510631	195510631	Missense_Mutation	G	T	p.T2607N
NCC010_KIDNEY	195505661	195518368	195510631	195510631	Missense_Mutation	G	T	p.T2607N
RKN_SOFT_TISSUE	195505661	195518368	195510631	195510631	Missense_Mutation	G	T	p.T2607N
RKO_LARGE_INTESTINE	195505661	195518368	195510746	195510746	Missense_Mutation	C	T	p.A2569T
BE2M17_AUTONOMIC_GANGLIA	195505661	195518368	195510749	195510749	Missense_Mutation	C	A	p.A2568S
HS683_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195510749	195510749	Missense_Mutation	C	A	p.A2568S
HSC39_STOMACH	195505661	195518368	195510749	195510749	Missense_Mutation	C	A	p.A2568S
LB831EBV_MATCHED_NORMAL_TISSUE	195505661	195518368	195510749	195510749	Missense_Mutation	C	A	p.A2568S
MDAMB453_BREAST	195505661	195518368	195510749	195510749	Missense_Mutation	C	A	p.A2568S
NCIH2444_LUNG	195505661	195518368	195510749	195510749	Missense_Mutation	C	A	p.A2568S
NCIH524_LUNG	195505661	195518368	195510749	195510749	Missense_Mutation	C	A	p.A2568S
SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195510749	195510749	Missense_Mutation	C	A	p.A2568S
U2OS_BONE	195505661	195518368	195510749	195510749	Missense_Mutation	C	A	p.A2568S
TTC549_SOFT_TISSUE	195505661	195518368	195510812	195510812	Missense_Mutation	C	G	p.V2547L
TASK1_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195510815	195510815	Missense_Mutation	G	A	p.H2546Y
PANC0327_PANCREAS	195505661	195518368	195510820	195510820	Missense_Mutation	G	C	p.S2544C
SNUC5_LARGE_INTESTINE	195505661	195518368	195510824	195510824	Missense_Mutation	T	A	p.T2543S
NCIH1155_LUNG	195505661	195518368	195510832	195510832	Missense_Mutation	C	T	p.R2540H
SISO_CERVIX	195505661	195518368	195510850	195510850	Missense_Mutation	G	A	p.A2534V
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195510850	195510850	Missense_Mutation	G	A	p.A2534V
D283MED_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195510876	195510876	Missense_Mutation	G	T	p.D2525E
BT16_SOFT_TISSUE	195505661	195518368	195510895	195510895	Missense_Mutation	G	C	p.P2519R
GI1_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195510919	195510919	Missense_Mutation	G	T	p.T2511N
SNU1040_LARGE_INTESTINE	195505661	195518368	195510937	195510937	Missense_Mutation	G	T	p.A2505E
KM12_LARGE_INTESTINE	195505661	195518368	195510938	195510938	Missense_Mutation	C	T	p.A2505T
NEC8_TESTIS	195505661	195518368	195510938	195510938	Missense_Mutation	C	T	p.A2505T
TK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195510946	195510946	Missense_Mutation	G	A	p.P2502L
GBM001_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195510949	195510949	Missense_Mutation	C	G	p.S2501T
HCC2157_BREAST	195505661	195518368	195510973	195510973	Missense_Mutation	T	A	p.D2493V
EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195510973	195510973	Missense_Mutation	T	A	p.D2493V
HCC2157_MATCHED_NORMAL_TISSUE	195505661	195518368	195510973	195510973	Missense_Mutation	T	A	p.D2493V
GAMG_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195510980	195510980	Missense_Mutation	T	A	p.T2491S
JHUEM1_ENDOMETRIUM	195505661	195518368	195511015	195511015	Missense_Mutation	G	A	p.T2479I
LS411N_LARGE_INTESTINE	195505661	195518368	195511031	195511031	Missense_Mutation	A	G	p.S2474P
BT474_BREAST	195505661	195518368	195511058	195511058	Missense_Mutation	G	C	p.L2465V
MESSA_SOFT_TISSUE	195505661	195518368	195511068	195511068	Missense_Mutation	G	T	p.D2461E
MDAMB453_BREAST	195505661	195518368	195511084	195511084	Missense_Mutation	G	A	p.S2456L
MET2B	195505661	195518368	195511118	195511118	Missense_Mutation	G	A	p.H2445Y
CPCN_LUNG	195505661	195518368	195511135	195511135	Missense_Mutation	G	T	p.S2439Y
JHH6_LIVER	195505661	195518368	195511144	195511144	Missense_Mutation	G	C	p.T2436S
KARPAS384_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195511172	195511172	Missense_Mutation	T	C	p.T2427A
KNS62_LUNG	195505661	195518368	195511192	195511192	Missense_Mutation	G	T	p.T2420N
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195511201	195511201	Missense_Mutation	A	G	p.L2417P
OVCAR5_OVARY	195505661	195518368	195511234	195511235	Missense_Mutation	GT	AC	p.T2406V
NCIH748_LUNG	195505661	195518368	195511235	195511235	Missense_Mutation	T	C	p.T2406A
MM386_SKIN	195505661	195518368	195511247	195511247	Missense_Mutation	G	A	p.P2402S
AN3CA_ENDOMETRIUM	195505661	195518368	195511249	195511249	Missense_Mutation	A	C	p.L2401R
SNGM_ENDOMETRIUM	195505661	195518368	195511250	195511250	Missense_Mutation	G	C	p.L2401V
SW684_SOFT_TISSUE	195505661	195518368	195511252	195511252	Missense_Mutation	G	A	p.P2400L
COLO783_SKIN	195505661	195518368	195511255	195511255	Missense_Mutation	G	A	p.T2399I
CHLA32_BONE	195505661	195518368	195511258	195511258	Missense_Mutation	G	A	p.T2398I
AGS_STOMACH	195505661	195518368	195511262	195511262	Missense_Mutation	C	A	p.D2397Y
RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195511264	195511264	Missense_Mutation	C	T	p.G2396D
CAL39_VULVA	195505661	195518368	195511270	195511270	Missense_Mutation	G	A	p.S2394F
KYSE50_OESOPHAGUS	195505661	195518368	195511270	195511270	Missense_Mutation	G	T	p.S2394Y
PEDS015T_SOFT_TISSUE	195505661	195518368	195511303	195511303	Missense_Mutation	G	T	p.T2383N
MEWO_SKIN	195505661	195518368	195511342	195511342	Missense_Mutation	G	A	p.P2370L
ML1_THYROID	195505661	195518368	195511343	195511343	Missense_Mutation	G	A	p.P2370S
KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195511348	195511348	Missense_Mutation	G	C	p.P2368R
LAMA84_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195511363	195511363	Missense_Mutation	G	T	p.T2363K
201T_LUNG	195505661	195518368	195511379	195511380	Missense_Mutation	CG	AA	p.A2358S
201T_LUNG	195505661	195518368	195511435	195511435	Missense_Mutation	A	T	p.V2339D
GT3TKB_STOMACH	195505661	195518368	195511475	195511475	Missense_Mutation	G	A	p.L2326F
RERFLCFM_LUNG	195505661	195518368	195511475	195511475	Missense_Mutation	G	A	p.L2326F
SW684_SOFT_TISSUE	195505661	195518368	195511487	195511487	Missense_Mutation	G	A	p.P2322S
K2_SKIN	195505661	195518368	195511492	195511492	Missense_Mutation	G	A	p.P2320L
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195511498	195511498	Missense_Mutation	G	A	p.A2318V
SCC25_UPPER_AERODIGESTIVE_TRACT	195505661	195518368	195511498	195511498	Missense_Mutation	G	A	p.A2318V
KELLY_AUTONOMIC_GANGLIA	195505661	195518368	195511573	195511573	Missense_Mutation	C	T	p.S2293N
C75_LARGE_INTESTINE	195505661	195518368	195511583	195511583	Missense_Mutation	G	T	p.P2290T
P32ISH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195511588	195511588	Missense_Mutation	G	C	p.P2288R
NCIH2029_LUNG	195505661	195518368	195511619	195511619	Missense_Mutation	G	A	p.L2278F
SNU840_OVARY	195505661	195518368	195511628	195511628	Missense_Mutation	C	G	p.V2275L
UMUC14_URINARY_TRACT	195505661	195518368	195511633	195511633	Missense_Mutation	A	T	p.L2273H
C10_LARGE_INTESTINE	195505661	195518368	195511637	195511638	Missense_Mutation	AG	GA	p.S2272P
MB1_THYROID	195505661	195518368	195511637	195511638	Missense_Mutation	AG	GA	p.S2272P
NCIH647_LUNG	195505661	195518368	195511637	195511638	Missense_Mutation	AG	GA	p.S2272P
ME180_CERVIX	195505661	195518368	195511637	195511638	Missense_Mutation	AG	GA	p.S2272P
OE19_OESOPHAGUS	195505661	195518368	195511637	195511638	Missense_Mutation	AG	GA	p.S2272P
TOV112D_OVARY	195505661	195518368	195511637	195511638	Missense_Mutation	AG	GA	p.S2272P
UMC11_LUNG	195505661	195518368	195511637	195511638	Missense_Mutation	AG	GA	p.S2272P
EW22_BONE	195505661	195518368	195511691	195511691	Missense_Mutation	T	C	p.T2254A
JHH7_LIVER	195505661	195518368	195511694	195511694	Missense_Mutation	C	G	p.D2253H
JHH7_LIVER	195505661	195518368	195511700	195511700	Missense_Mutation	T	A	p.T2251S
HS939T_SKIN	195505661	195518368	195511711	195511711	Missense_Mutation	G	A	p.S2247F
MDAMB415_BREAST	195505661	195518368	195511720	195511720	Missense_Mutation	G	C	p.T2244S
BEN_LUNG	195505661	195518368	195511724	195511724	Missense_Mutation	C	G	p.V2243L
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195511742	195511742	Missense_Mutation	G	T	p.Q2237K
SW756_CERVIX	195505661	195518368	195511775	195511775	Missense_Mutation	G	A	p.L2226F
MKN74_STOMACH	195505661	195518368	195511786	195511786	Missense_Mutation	G	A	p.A2222V
MKN28_STOMACH	195505661	195518368	195511786	195511786	Missense_Mutation	G	A	p.A2222V
SW480_LARGE_INTESTINE	195505661	195518368	195511787	195511787	Missense_Mutation	C	T	p.A2222T
NCIH835_LUNG	195505661	195518368	195511798	195511798	Missense_Mutation	G	A	p.S2218F
CHLA32_BONE	195505661	195518368	195511799	195511799	Missense_Mutation	A	G	p.S2218P
H3118_UPPER_AERODIGESTIVE_TRACT	195505661	195518368	195511820	195511820	Missense_Mutation	C	G	p.V2211L
A204_SOFT_TISSUE	195505661	195518368	195511829	195511829	Missense_Mutation	G	A	p.P2208S
PCI30_UPPER_AERODIGESTIVE_TRACT	195505661	195518368	195511829	195511829	Missense_Mutation	G	A	p.P2208S
NCIH630_LARGE_INTESTINE	195505661	195518368	195511868	195511868	Missense_Mutation	C	T	p.V2195I
NCIH513_PLEURA	195505661	195518368	195511874	195511874	Missense_Mutation	G	C	p.L2193V
FADU_UPPER_AERODIGESTIVE_TRACT	195505661	195518368	195511876	195511876	Missense_Mutation	G	A	p.P2192L
GAMG_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195511879	195511879	Missense_Mutation	G	A	p.T2191I
NCIH630_LARGE_INTESTINE	195505661	195518368	195511916	195511916	Missense_Mutation	C	T	p.V2179I
KYSE410_OESOPHAGUS	195505661	195518368	195511936	195511936	Missense_Mutation	C	A	p.G2172V
MEWO_SKIN	195505661	195518368	195511966	195511966	Missense_Mutation	G	T	p.P2162H
AU565_BREAST	195505661	195518368	195511970	195511970	Missense_Mutation	G	C	p.L2161V
DMS114_LUNG	195505661	195518368	195511996	195511996	Missense_Mutation	G	A	p.S2152L
ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195511999	195511999	Missense_Mutation	G	A	p.S2151F
PC9_LUNG	195505661	195518368	195512011	195512011	Missense_Mutation	A	T	p.V2147D
RERFLCKJ_LUNG	195505661	195518368	195512011	195512011	Missense_Mutation	A	T	p.V2147D
NCIH1092_LUNG	195505661	195518368	195512012	195512012	Missense_Mutation	C	A	p.V2147F
MCC13_SKIN	195505661	195518368	195512015	195512015	Missense_Mutation	G	A	p.P2146S
UMUC16_URINARY_TRACT	195505661	195518368	195512015	195512015	Missense_Mutation	G	C	p.P2146A
HKA1_SKIN	195505661	195518368	195512017	195512017	Missense_Mutation	A	T	p.L2145H
RL952_ENDOMETRIUM	195505661	195518368	195512033	195512033	Missense_Mutation	C	T	p.G2140S
SNUC5_LARGE_INTESTINE	195505661	195518368	195512051	195512051	Missense_Mutation	G	T	p.P2134T
KATOIII_STOMACH	195505661	195518368	195512068	195512068	Missense_Mutation	G	T	p.P2128H
EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195512071	195512071	Missense_Mutation	G	T	p.T2127N
NCIH748_LUNG	195505661	195518368	195512075	195512075	Missense_Mutation	T	C	p.T2126A
SW48_LARGE_INTESTINE	195505661	195518368	195512083	195512083	Missense_Mutation	G	A	p.T2123I
HUH6CLONE5_LIVER	195505661	195518368	195512083	195512083	Missense_Mutation	G	A	p.T2123I
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195512098	195512098	Missense_Mutation	G	T	p.A2118D
HCC15_LUNG	195505661	195518368	195512106	195512107	Missense_Mutation	GT	CA	p.D2115V
TGBC24TKB_BILIARY_TRACT	195505661	195518368	195512128	195512128	Missense_Mutation	C	G	p.G2108A
SIHA_CERVIX	195505661	195518368	195512134	195512134	Missense_Mutation	G	T	p.S2106Y
SNU449_LIVER	195505661	195518368	195512134	195512134	Missense_Mutation	G	T	p.S2106Y
HSC2_UPPER_AERODIGESTIVE_TRACT	195505661	195518368	195512134	195512134	Missense_Mutation	G	T	p.S2106Y
HT55_LARGE_INTESTINE	195505661	195518368	195512137	195512137	Missense_Mutation	A	T	p.V2105E
PACADD137_PANCREAS	195505661	195518368	195512147	195512147	Missense_Mutation	C	T	p.A2102T
KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195512150	195512150	Missense_Mutation	C	T	p.D2101N
JHUEM3_ENDOMETRIUM	195505661	195518368	195512150	195512150	Missense_Mutation	C	T	p.D2101N
ESO51_OESOPHAGUS	195505661	195518368	195512156	195512156	Missense_Mutation	C	T	p.V2099I
NCIH2085_LUNG	195505661	195518368	195512173	195512173	Missense_Mutation	T	A	p.H2093L
EW16_BONE	195505661	195518368	195512182	195512182	Missense_Mutation	G	C	p.S2090C
RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195512221	195512221	Missense_Mutation	T	G	p.H2077P
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195512249	195512249	Missense_Mutation	T	G	p.T2068P
KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195512257	195512257	Missense_Mutation	A	T	p.L2065H
CCK81_LARGE_INTESTINE	195505661	195518368	195512264	195512264	Missense_Mutation	T	C	p.T2063A
SW756_CERVIX	195505661	195518368	195512284	195512284	Missense_Mutation	G	A	p.S2056L
MDAMB453_BREAST	195505661	195518368	195512284	195512284	Missense_Mutation	G	A	p.S2056L
KYM1_SOFT_TISSUE	195505661	195518368	195512286	195512287	Missense_Mutation	GG	AA	p.S2055F
MM426_SKIN	195505661	195518368	195512309	195512310	Missense_Mutation	GG	AA	p.P2048S
RH41_SOFT_TISSUE	195505661	195518368	195512341	195512341	Missense_Mutation	T	C	p.D2037G
RH4_SOFT_TISSUE	195505661	195518368	195512341	195512341	Missense_Mutation	T	C	p.D2037G
SW684_SOFT_TISSUE	195505661	195518368	195512383	195512383	Missense_Mutation	G	A	p.S2023F
NCIH2452_PLEURA	195505661	195518368	195512388	195512388	Missense_Mutation	G	C	p.S2021R
TGW_AUTONOMIC_GANGLIA	195505661	195518368	195512396	195512396	Missense_Mutation	C	G	p.V2019L
SW756_CERVIX	195505661	195518368	195512402	195512402	Missense_Mutation	G	C	p.L2017V
GOTO_AUTONOMIC_GANGLIA	195505661	195518368	195512440	195512440	Missense_Mutation	G	A	p.T2004I
CAL148_BREAST	195505661	195518368	195512484	195512484	Missense_Mutation	G	T	p.D1989E
KELLY_AUTONOMIC_GANGLIA	195505661	195518368	195512484	195512484	Missense_Mutation	G	C	p.D1989E
MCCAR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195512484	195512484	Missense_Mutation	G	C	p.D1989E
BIN67_OVARY	195505661	195518368	195512488	195512488	Missense_Mutation	G	T	p.T1988N
MFE319_ENDOMETRIUM	195505661	195518368	195512507	195512507	Missense_Mutation	C	T	p.A1982T
PWR1E_PROSTATE	195505661	195518368	195512519	195512520	Missense_Mutation	AC	GT	p.S1978P
NCIH720_LUNG	195505661	195518368	195512561	195512561	Missense_Mutation	C	G	p.G1964R
HCC366_LUNG	195505661	195518368	195512566	195512566	Missense_Mutation	G	A	p.P1962L
SNUC5_LARGE_INTESTINE	195505661	195518368	195512566	195512566	Missense_Mutation	G	A	p.P1962L
CAL12T_LUNG	195505661	195518368	195512608	195512608	Missense_Mutation	C	A	p.G1948V
NCIH510_LUNG	195505661	195518368	195512642	195512642	Missense_Mutation	G	C	p.L1937V
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195512647	195512647	Missense_Mutation	G	A	p.T1935M
HUH7_LIVER	195505661	195518368	195512648	195512648	Missense_Mutation	T	C	p.T1935A
HUO9_BONE	195505661	195518368	195512648	195512648	Missense_Mutation	T	C	p.T1935A
NCIH740_LUNG	195505661	195518368	195512689	195512689	Missense_Mutation	A	G	p.L1921P
SNUC1_LARGE_INTESTINE	195505661	195518368	195512699	195512699	Missense_Mutation	C	G	p.A1918P
HCC1428_BREAST	195505661	195518368	195512711	195512711	Missense_Mutation	A	G	p.S1914P
ES7_BONE	195505661	195518368	195512714	195512714	Missense_Mutation	C	A	p.V1913L
SNU175_LARGE_INTESTINE	195505661	195518368	195512794	195512794	Missense_Mutation	G	A	p.T1886I
SW1271_LUNG	195505661	195518368	195512815	195512815	Missense_Mutation	G	A	p.S1879F
LS180_LARGE_INTESTINE	195505661	195518368	195512843	195512843	Missense_Mutation	C	T	p.A1870T
RL952_ENDOMETRIUM	195505661	195518368	195512843	195512843	Missense_Mutation	C	T	p.A1870T
EW12_BONE	195505661	195518368	195512843	195512843	Missense_Mutation	C	T	p.A1870T
DERL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195512870	195512870	Missense_Mutation	C	A	p.D1861Y
CW2_LARGE_INTESTINE	195505661	195518368	195512875	195512875	Missense_Mutation	A	T	p.V1859D
MCC13_SKIN	195505661	195518368	195512879	195512879	Missense_Mutation	G	A	p.P1858S
RT112_URINARY_TRACT	195505661	195518368	195512890	195512890	Missense_Mutation	G	A	p.T1854I
GCT_SOFT_TISSUE	195505661	195518368	195512899	195512899	Missense_Mutation	G	A	p.S1851L
NCIH292_LUNG	195505661	195518368	195512906	195512906	Missense_Mutation	C	A	p.A1849S
R262_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195512912	195512912	Missense_Mutation	A	T	p.S1847T
U251MG_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195512912	195512912	Missense_Mutation	A	T	p.S1847T
SNU1_STOMACH	195505661	195518368	195512966	195512966	Missense_Mutation	C	T	p.D1829N
KALS1_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195512968	195512968	Missense_Mutation	G	A	p.T1828I
MM386_SKIN	195505661	195518368	195512975	195512975	Missense_Mutation	G	A	p.P1826S
HCC2450_LUNG	195505661	195518368	195513013	195513013	Missense_Mutation	C	A	p.S1813I
HCT15_LARGE_INTESTINE	195505661	195518368	195513085	195513085	Missense_Mutation	T	C	p.D1789G
KGN_OVARY	195505661	195518368	195513112	195513112	Missense_Mutation	G	A	p.T1780I
KU1919_URINARY_TRACT	195505661	195518368	195513131	195513131	Missense_Mutation	C	A	p.A1774S
KS1_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195513143	195513143	Missense_Mutation	A	G	p.S1770P
MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195513143	195513143	Missense_Mutation	A	G	p.S1770P
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195513148	195513148	Missense_Mutation	G	A	p.S1768L
SW900_LUNG	195505661	195518368	195513160	195513160	Missense_Mutation	G	C	p.T1764S
NCIH2818_PLEURA	195505661	195518368	195513175	195513175	Missense_Mutation	G	C	p.T1759S
KMBC2_URINARY_TRACT	195505661	195518368	195513196	195513196	Missense_Mutation	G	A	p.S1752L
MEWO_SKIN	195505661	195518368	195513232	195513233	Missense_Mutation	CC	TT	p.G1740N
NBSUSSR_AUTONOMIC_GANGLIA	195505661	195518368	195513245	195513245	Missense_Mutation	A	C	p.S1736A
MFHINO_SOFT_TISSUE	195505661	195518368	195513257	195513257	Missense_Mutation	T	A	p.T1732S
KLE_ENDOMETRIUM	195505661	195518368	195513262	195513262	Missense_Mutation	G	C	p.P1730R
LS180_LARGE_INTESTINE	195505661	195518368	195513271	195513271	Missense_Mutation	G	A	p.T1727M
HUPT4_PANCREAS	195505661	195518368	195513271	195513271	Missense_Mutation	G	A	p.T1727M
ES1_BONE	195505661	195518368	195513299	195513299	Missense_Mutation	G	A	p.L1718F
NCIH187_LUNG	195505661	195518368	195513304	195513304	Missense_Mutation	G	C	p.T1716S
RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195513319	195513319	Missense_Mutation	G	T	p.T1711N
SNU407_LARGE_INTESTINE	195505661	195518368	195513350	195513350	Missense_Mutation	C	T	p.D1701N
NCIH1693_LUNG	195505661	195518368	195513377	195513377	Missense_Mutation	C	G	p.D1692H
KNS62_LUNG	195505661	195518368	195513454	195513454	Missense_Mutation	G	T	p.P1666H
KNS81_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195513460	195513460	Missense_Mutation	G	T	p.P1664H
TASK1_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195513460	195513461	Missense_Mutation	GG	TA	p.P1664Y
SNU216_STOMACH	195505661	195518368	195513460	195513460	Missense_Mutation	G	T	p.P1664H
CAL27_UPPER_AERODIGESTIVE_TRACT	195505661	195518368	195513482	195513482	Missense_Mutation	C	A	p.A1657S
YKG1_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195513482	195513482	Missense_Mutation	C	A	p.A1657S
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195513511	195513511	Missense_Mutation	G	A	p.T1647I
MFE296_ENDOMETRIUM	195505661	195518368	195513521	195513521	Missense_Mutation	C	A	p.G1644C
COLO792_SKIN	195505661	195518368	195513550	195513550	Missense_Mutation	G	A	p.P1634L
OVK18_OVARY	195505661	195518368	195513569	195513569	Missense_Mutation	C	G	p.G1628R
OUMS23_LARGE_INTESTINE	195505661	195518368	195513592	195513592	Missense_Mutation	G	T	p.T1620N
IPC298_SKIN	195505661	195518368	195513599	195513599	Missense_Mutation	G	A	p.P1618S
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195513604	195513604	Missense_Mutation	G	T	p.P1616H
RH18_SOFT_TISSUE	195505661	195518368	195513614	195513614	Missense_Mutation	G	C	p.H1613D
KYSE450_OESOPHAGUS	195505661	195518368	195513650	195513650	Missense_Mutation	G	C	p.L1601V
ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195513650	195513650	Missense_Mutation	G	C	p.L1601V
HLE_LIVER	195505661	195518368	195513650	195513650	Missense_Mutation	G	C	p.L1601V
MFE319_ENDOMETRIUM	195505661	195518368	195513676	195513676	Missense_Mutation	G	A	p.S1592L
MFM223_BREAST	195505661	195518368	195513676	195513676	Missense_Mutation	G	A	p.S1592L
SW626_OVARY	195505661	195518368	195513716	195513717	Missense_Mutation	TA	AG	p.T1579S
SKMEL30_SKIN	195505661	195518368	195513716	195513717	Missense_Mutation	TA	AG	p.T1579S
BALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195513736	195513736	Missense_Mutation	G	C	p.T1572S
G361_SKIN	195505661	195518368	195513739	195513739	Missense_Mutation	A	C	p.V1571G
LN464_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195513775	195513775	Missense_Mutation	G	A	p.S1559F
ACN_AUTONOMIC_GANGLIA	195505661	195518368	195513775	195513775	Missense_Mutation	G	A	p.S1559F
RT4_URINARY_TRACT	195505661	195518368	195513800	195513800	Missense_Mutation	T	A	p.T1551S
SNUC5_LARGE_INTESTINE	195505661	195518368	195513800	195513800	Missense_Mutation	T	C	p.T1551A
C32_SKIN	195505661	195518368	195513802	195513802	Missense_Mutation	G	T	p.T1550N
NCIH2126_LUNG	195505661	195518368	195513802	195513802	Missense_Mutation	G	A	p.T1550I
MCF7_BREAST	195505661	195518368	195513886	195513886	Missense_Mutation	G	T	p.P1522H
MCF7_BREAST	195505661	195518368	195513898	195513898	Missense_Mutation	G	A	p.A1518V
IGROV1_OVARY	195505661	195518368	195513953	195513953	Missense_Mutation	C	T	p.G1500S
GB1_CENTRAL_NERVOUS_SYSTEM	195505661	195518368	195513965	195513965	Missense_Mutation	A	C	p.S1496A
HCT15_LARGE_INTESTINE	195505661	195518368	195514006	195514006	Missense_Mutation	G	T	p.S1482Y
BICR22_UPPER_AERODIGESTIVE_TRACT	195505661	195518368	195514174	195514174	Missense_Mutation	G	A	p.P1426L
HCC78_LUNG	195505661	195518368	195514615	195514615	Missense_Mutation	G	A	p.T1279M
RT112_URINARY_TRACT	195505661	195518368	195514955	195514955	Missense_Mutation	C	T	p.A1166T
BT20_BREAST	195505661	195518368	195514955	195514956	Missense_Mutation	CC	TG	p.1165_1166QA>HT
CHSA0108_BONE	195505661	195518368	195514955	195514956	Missense_Mutation	CC	TG	p.1165_1166QA>HT
RT112_URINARY_TRACT	195505661	195518368	195514955	195514956	Missense_Mutation	CC	TG	p.1165_1166QA>HT
MS751_CERVIX	195505661	195518368	195515002	195515003	Missense_Mutation	GT	AC	p.T1150V
KYSE140_OESOPHAGUS	195505661	195518368	195515023	195515023	Missense_Mutation	G	A	p.S1143F
OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195515039	195515039	Missense_Mutation	G	T	p.P1138T
MM127_SKIN	195505661	195518368	195515066	195515066	Missense_Mutation	C	T	p.A1129T
HCC33_LUNG	195505661	195518368	195515066	195515066	Missense_Mutation	C	T	p.A1129T
NCIH1781_LUNG	195505661	195518368	195515066	195515066	Missense_Mutation	C	T	p.A1129T
MM386_SKIN	195505661	195518368	195515071	195515071	Missense_Mutation	G	A	p.S1127F
SH10TC_STOMACH	195505661	195518368	195515086	195515086	Missense_Mutation	G	A	p.P1122L
HCC1419_BREAST	195505661	195518368	195515121	195515122	Missense_Mutation	AG	GC	p.T1110S
NCIH647_LUNG	195505661	195518368	195515121	195515122	Missense_Mutation	AG	GC	p.T1110S
UMC11_LUNG	195505661	195518368	195515121	195515122	Missense_Mutation	AG	GC	p.T1110S
SKMEL24_SKIN	195505661	195518368	195515183	195515183	Missense_Mutation	G	A	p.P1090S
NCIH2052_PLEURA	195505661	195518368	195515195	195515195	Missense_Mutation	T	C	p.T1086A
YAMATO_SOFT_TISSUE	195505661	195518368	195515203	195515203	Missense_Mutation	G	C	p.T1083R
HS940T_FIBROBLAST	195505661	195518368	195515210	195515210	Missense_Mutation	C	T	p.A1081T
RKO_LARGE_INTESTINE	195505661	195518368	195515243	195515243	Missense_Mutation	C	T	p.V1070I
JHOS3_OVARY	195505661	195518368	195515243	195515243	Missense_Mutation	C	T	p.V1070I
HCET_UPPER_AERODIGESTIVE_TRACT	195505661	195518368	195515258	195515258	Missense_Mutation	C	G	p.A1065P
COLO829_SKIN	195505661	195518368	195515284	195515284	Missense_Mutation	G	T	p.P1056H
SNU1_STOMACH	195505661	195518368	195515311	195515311	Missense_Mutation	G	A	p.S1047F
K2_SKIN	195505661	195518368	195515311	195515311	Missense_Mutation	G	A	p.S1047F
SNU16_STOMACH	195505661	195518368	195515363	195515363	Missense_Mutation	T	G	p.T1030P
SNU16_STOMACH	195505661	195518368	195515366	195515366	Missense_Mutation	C	T	p.D1029N
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195515371	195515371	Missense_Mutation	A	G	p.V1027A
LK2_LUNG	195505661	195518368	195515386	195515387	Missense_Mutation	GT	AC	p.T1022V
NCIH2170_LUNG	195505661	195518368	195515386	195515387	Missense_Mutation	GT	AC	p.T1022V
BALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195515438	195515438	Missense_Mutation	G	C	p.H1005D
MCC13_SKIN	195505661	195518368	195515462	195515462	Missense_Mutation	C	T	p.D997N
BFTC909_KIDNEY	195505661	195518368	195515462	195515462	Missense_Mutation	C	A	p.D997Y
ZR7530_BREAST	195505661	195518368	195515471	195515471	Missense_Mutation	G	A	p.H994Y
KPNYS_AUTONOMIC_GANGLIA	195505661	195518368	195515482	195515483	Missense_Mutation	GT	AC	p.T990V
KNS62_LUNG	195505661	195518368	195515500	195515500	Missense_Mutation	G	A	p.S984L
AN3CA_ENDOMETRIUM	195505661	195518368	195515528	195515528	Missense_Mutation	T	C	p.T975A
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195515563	195515563	Missense_Mutation	C	G	p.G963A
U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195515575	195515575	Missense_Mutation	G	A	p.P959L
NCIH1651_LUNG	195505661	195518368	195515582	195515582	Missense_Mutation	G	C	p.L957V
NCIH2172_LUNG	195505661	195518368	195515625	195515625	Missense_Mutation	G	C	p.I942M
MDAMB361_BREAST	195505661	195518368	195515689	195515689	Missense_Mutation	G	C	p.T921S
ESS1_ENDOMETRIUM	195505661	195518368	195515710	195515710	Missense_Mutation	C	A	p.R914I
KM12_LARGE_INTESTINE	195505661	195518368	195515737	195515737	Missense_Mutation	G	A	p.S905F
K2_SKIN	195505661	195518368	195515737	195515737	Missense_Mutation	G	A	p.S905F
HT115_LARGE_INTESTINE	195505661	195518368	195515854	195515854	Missense_Mutation	G	A	p.S866L
ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195515903	195515903	Missense_Mutation	C	T	p.A850T
SNU899_UPPER_AERODIGESTIVE_TRACT	195505661	195518368	195515971	195515971	Missense_Mutation	G	A	p.T827M
C33A_CERVIX	195505661	195518368	195515989	195515989	Missense_Mutation	A	G	p.I821T
MM370_SKIN	195505661	195518368	195515992	195515992	Missense_Mutation	C	T	p.G820E
KYSE220_OESOPHAGUS	195505661	195518368	195516055	195516055	Missense_Mutation	G	A	p.S799L
BCPAP_THYROID	195505661	195518368	195516175	195516175	Missense_Mutation	G	A	p.S759F
NCIH1373_LUNG	195505661	195518368	195516395	195516395	Missense_Mutation	C	T	p.A686T
HCT15_LARGE_INTESTINE	195505661	195518368	195516469	195516469	Missense_Mutation	G	T	p.T661N
DU145_PROSTATE	195505661	195518368	195516476	195516476	Missense_Mutation	T	C	p.T659A
FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195516478	195516478	Missense_Mutation	A	T	p.M658K
JHUEM3_ENDOMETRIUM	195505661	195518368	195516530	195516530	Missense_Mutation	G	T	p.Q641K
HEC251_ENDOMETRIUM	195505661	195518368	195516569	195516569	Missense_Mutation	G	T	p.P628T
NCIH187_LUNG	195505661	195518368	195516595	195516595	Missense_Mutation	G	A	p.S619L
OVK18_OVARY	195505661	195518368	195516721	195516721	Missense_Mutation	G	C	p.A577G
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195516748	195516748	Missense_Mutation	G	A	p.T568I
JHUEM7_ENDOMETRIUM	195505661	195518368	195516812	195516812	Missense_Mutation	T	C	p.T547A
G361_SKIN	195505661	195518368	195516850	195516850	Missense_Mutation	G	A	p.S534F
MCC13_SKIN	195505661	195518368	195516895	195516895	Missense_Mutation	C	T	p.G519E
HEC251_ENDOMETRIUM	195505661	195518368	195516956	195516956	Missense_Mutation	T	C	p.T499A
HEPG2_LIVER	195505661	195518368	195517013	195517013	Missense_Mutation	A	C	p.F480V
C3A_LIVER	195505661	195518368	195517013	195517013	Missense_Mutation	A	C	p.F480V
TK10_KIDNEY	195505661	195518368	195517019	195517019	Missense_Mutation	C	G	p.E478Q
MPP89_PLEURA	195505661	195518368	195517061	195517061	Missense_Mutation	G	A	p.R464W
CHAGOK1_LUNG	195505661	195518368	195517088	195517088	Missense_Mutation	G	T	p.Q455K
MDAMB361_BREAST	195505661	195518368	195517255	195517255	Missense_Mutation	G	C	p.S399C
KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195517297	195517297	Missense_Mutation	T	C	p.N385S
HEC6_ENDOMETRIUM	195505661	195518368	195517300	195517300	Missense_Mutation	C	T	p.S384N
LS411N_LARGE_INTESTINE	195505661	195518368	195517345	195517345	Missense_Mutation	G	A	p.T369I
RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195517529	195517529	Missense_Mutation	C	T	p.A308T
HEC108_ENDOMETRIUM	195505661	195518368	195517577	195517577	Missense_Mutation	C	T	p.V292I
SW684_SOFT_TISSUE	195505661	195518368	195517622	195517622	Missense_Mutation	G	A	p.P277S
NCIH513_PLEURA	195505661	195518368	195517650	195517651	Missense_Mutation	TG	AT	p.T267N
CW2_LARGE_INTESTINE	195505661	195518368	195517655	195517655	Missense_Mutation	C	T	p.V266M
NCIH1299_LUNG	195505661	195518368	195517714	195517714	Missense_Mutation	G	T	p.A246D
BICR22_UPPER_AERODIGESTIVE_TRACT	195505661	195518368	195517732	195517732	Missense_Mutation	G	A	p.S240F
SNU81_LARGE_INTESTINE	195505661	195518368	195517777	195517777	Missense_Mutation	G	T	p.S225Y
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195517786	195517786	Missense_Mutation	G	A	p.P222L
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195517943	195517943	Missense_Mutation	A	T	p.S170T
HEC265_ENDOMETRIUM	195505661	195518368	195517990	195517990	Missense_Mutation	G	C	p.T154R
TCCPAN2_PANCREAS	195505661	195518368	195518050	195518050	Missense_Mutation	G	A	p.T134I
IPC298_SKIN	195505661	195518368	195518081	195518081	Missense_Mutation	G	A	p.P124S
SNU81_LARGE_INTESTINE	195505661	195518368	195518094	195518094	Missense_Mutation	C	A	p.M119I
SNU520_STOMACH	195505661	195518368	195518180	195518180	Missense_Mutation	C	T	p.D91N
HS695T_SKIN	195505661	195518368	195518245	195518245	Missense_Mutation	T	A	p.D69V
NCIH187_LUNG	195505661	195518368	195507820	195507820	Nonsense_Mutation	G	T	p.S3544*
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	195505661	195518368	195508286	195508286	Nonsense_Mutation	G	A	p.Q3389*
SW756_CERVIX	195505661	195518368	195509164	195509164	Nonsense_Mutation	G	C	p.S3096*
SW756_CERVIX	195505661	195518368	195509548	195509548	Nonsense_Mutation	G	C	p.S2968*
TTC549_SOFT_TISSUE	195505661	195518368	195509596	195509596	Nonsense_Mutation	G	C	p.S2952*
SW756_CERVIX	195505661	195518368	195509740	195509740	Nonsense_Mutation	G	T	p.S2904*
SW756_CERVIX	195505661	195518368	195511564	195511564	Nonsense_Mutation	G	C	p.S2296*
SW756_CERVIX	195505661	195518368	195513148	195513148	Nonsense_Mutation	G	C	p.S1768*
HT1376_URINARY_TRACT	195505661	195518368	195515212	195515212	Nonsense_Mutation	G	C	p.S1080*
NCIH1651_LUNG	195505661	195518368	195515404	195515404	Nonsense_Mutation	G	C	p.S1016*
NCIH1651_LUNG	195505661	195518368	195516401	195516401	Nonsense_Mutation	G	A	p.Q684*
IGROV1_OVARY	195505661	195518368	195517088	195517088	Nonsense_Mutation	G	A	p.Q455*
HS940T_FIBROBLAST	195505661	195518368	195517899	195517899	Nonsense_Mutation	C	T	p.W184*
EVSAT_BREAST	195505661	195518368	195517942	195517942	Nonsense_Mutation	G	C	p.S170*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MUC4

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 MUC4

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MUC4

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RelatedDrugs for MUC4

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 MUC4

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MUC4	C0000786	Spontaneous abortion	1	CTD_human
MUC4	C0007134	Renal Cell Carcinoma	1	CTD_human
MUC4	C0033578	Prostatic Neoplasms	1	CTD_human

	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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Gene summary for MUC4

Exon skipping events across known transcript of Ensembl for MUC4 from UCSC genome browser

Gene isoform structures and expression levels for MUC4

Exon skipping events with PSIs in TCGA for MUC4

Exon skipping events with PSIs in GTEx for MUC4

Open reading frame (ORF) annotation in the exon skipping event for MUC4

Infer the effects of exon skipping event on protein functional features for MUC4

SNVs in the skipped exons for MUC4

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MUC4

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MUC4

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MUC4

RelatedDrugs for MUC4

RelatedDiseases for MUC4