ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ATRX

Gene summary

Gene information	Gene symbol	ATRX
	Gene ID	546
	Gene name	ATRX, chromatin remodeler
	Synonyms	JMS\|MRX52\|RAD54\|RAD54L\|XH2\|XNP\|ZNF-HX
	Cytomap	Xq21.1
	Type of gene	protein-coding
	Description	transcriptional regulator ATRXATP-dependent helicase ATRXX-linked helicase IIX-linked nuclear proteinalpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
	Modification date	20180519
	UniProtAcc	P46100
	Context	PubMed: ATRX [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
ATRX	GO:0006334	nucleosome assembly	20651253
ATRX	GO:0006338	chromatin remodeling	20651253

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Exon skipping events across known transcript of Ensembl for ATRX 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 ATRX

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 ATRX

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_515773	X	76776265:76776394:76776880:76776976:76777740:76777866	76776880:76776976	ENSG00000085224.16	ENST00000373344.5,ENST00000395603.3,ENST00000480283.1
exon_skip_515776	X	76814139:76814317:76829714:76829823:76845303:76845410	76829714:76829823	ENSG00000085224.16	ENST00000373344.5,ENST00000395603.3,ENST00000480283.1
exon_skip_515778	X	76829714:76829823:76845303:76845410:76849165:76849319	76845303:76845410	ENSG00000085224.16	ENST00000373344.5,ENST00000395603.3,ENST00000480283.1
exon_skip_515783	X	76854879:76855049:76855200:76855289:76855902:76856033	76855200:76855289	ENSG00000085224.16	ENST00000373344.5,ENST00000395603.3,ENST00000480283.1
exon_skip_515785	X	76872080:76872198:76874273:76874449:76875862:76876000	76874273:76874449	ENSG00000085224.16	ENST00000373344.5,ENST00000395603.3,ENST00000480283.1,ENST00000400866.2
exon_skip_515788	X	76912049:76912143:76918870:76919047:76920133:76920267	76918870:76919047	ENSG00000085224.16	ENST00000373344.5,ENST00000395603.3,ENST00000480283.1
exon_skip_515789	X	76920133:76920267:76931720:76931793:76937011:76937093	76931720:76931793	ENSG00000085224.16	ENST00000373344.5,ENST00000395603.3,ENST00000480283.1
exon_skip_515792	X	76931720:76931793:76937011:76940085:76940430:76940498	76937011:76940085	ENSG00000085224.16	ENST00000373344.5,ENST00000395603.3,ENST00000480283.1
exon_skip_515797	X	76944310:76944420:76946295:76946418:76949312:76949426	76946295:76946418	ENSG00000085224.16	ENST00000480283.1
exon_skip_515798	X	76944310:76944420:76949312:76949426:76952064:76952192	76949312:76949426	ENSG00000085224.16	ENST00000373344.5
exon_skip_515801	X	76954061:76954117:76972607:76972720:77041467:77041702	76972607:76972720	ENSG00000085224.16	ENST00000395603.3,ENST00000480283.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ATRX

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_515773	X	76776265:76776394:76776880:76776976:76777740:76777866	76776880:76776976	ENSG00000085224.16	ENST00000373344.5,ENST00000395603.3,ENST00000480283.1
exon_skip_515776	X	76814139:76814317:76829714:76829823:76845303:76845410	76829714:76829823	ENSG00000085224.16	ENST00000373344.5,ENST00000395603.3,ENST00000480283.1
exon_skip_515778	X	76829714:76829823:76845303:76845410:76849165:76849319	76845303:76845410	ENSG00000085224.16	ENST00000373344.5,ENST00000395603.3,ENST00000480283.1
exon_skip_515785	X	76872080:76872198:76874273:76874449:76875862:76876000	76874273:76874449	ENSG00000085224.16	ENST00000373344.5,ENST00000395603.3,ENST00000480283.1,ENST00000400866.2
exon_skip_515788	X	76912049:76912143:76918870:76919047:76920133:76920267	76918870:76919047	ENSG00000085224.16	ENST00000373344.5,ENST00000395603.3,ENST00000480283.1
exon_skip_515789	X	76920133:76920267:76931720:76931793:76937011:76937093	76931720:76931793	ENSG00000085224.16	ENST00000373344.5,ENST00000395603.3,ENST00000480283.1
exon_skip_515792	X	76931720:76931793:76937011:76940085:76940430:76940498	76937011:76940085	ENSG00000085224.16	ENST00000373344.5,ENST00000395603.3,ENST00000480283.1
exon_skip_515797	X	76944310:76944420:76946295:76946418:76949312:76949426	76946295:76946418	ENSG00000085224.16	ENST00000480283.1
exon_skip_515798	X	76944310:76944420:76949312:76949426:76952064:76952192	76949312:76949426	ENSG00000085224.16	ENST00000373344.5
exon_skip_515801	X	76954061:76954117:76972607:76972720:77041467:77041702	76972607:76972720	ENSG00000085224.16	ENST00000395603.3,ENST00000480283.1

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 ATRX

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
ENST00000373344	76829714	76829823	Frame-shift
ENST00000395603	76829714	76829823	Frame-shift
ENST00000373344	76845303	76845410	Frame-shift
ENST00000395603	76845303	76845410	Frame-shift
ENST00000373344	76855200	76855289	Frame-shift
ENST00000395603	76855200	76855289	Frame-shift
ENST00000373344	76874273	76874449	Frame-shift
ENST00000395603	76874273	76874449	Frame-shift
ENST00000373344	76931720	76931793	Frame-shift
ENST00000395603	76931720	76931793	Frame-shift
ENST00000373344	76937011	76940085	Frame-shift
ENST00000395603	76937011	76940085	Frame-shift
ENST00000395603	76972607	76972720	Frame-shift
ENST00000373344	76776880	76776976	In-frame
ENST00000395603	76776880	76776976	In-frame
ENST00000373344	76918870	76919047	In-frame
ENST00000395603	76918870	76919047	In-frame
ENST00000373344	76949312	76949426	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
ENST00000373344	76829714	76829823	Frame-shift
ENST00000395603	76829714	76829823	Frame-shift
ENST00000373344	76845303	76845410	Frame-shift
ENST00000395603	76845303	76845410	Frame-shift
ENST00000373344	76874273	76874449	Frame-shift
ENST00000395603	76874273	76874449	Frame-shift
ENST00000373344	76931720	76931793	Frame-shift
ENST00000395603	76931720	76931793	Frame-shift
ENST00000373344	76937011	76940085	Frame-shift
ENST00000395603	76937011	76940085	Frame-shift
ENST00000395603	76972607	76972720	Frame-shift
ENST00000373344	76776880	76776976	In-frame
ENST00000395603	76776880	76776976	In-frame
ENST00000373344	76918870	76919047	In-frame
ENST00000395603	76918870	76919047	In-frame
ENST00000373344	76949312	76949426	In-frame

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

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
ENST00000373344	11184	2492	76949312	76949426	586	699	123	161
ENST00000395603	11048	2492	76918870	76919047	4045	4221	1276	1335
ENST00000373344	11184	2492	76918870	76919047	4159	4335	1314	1373
ENST00000395603	11048	2492	76776880	76776976	7077	7172	2287	2319
ENST00000373344	11184	2492	76776880	76776976	7191	7286	2325	2357

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
ENST00000373344	11184	2492	76949312	76949426	586	699	123	161
ENST00000395603	11048	2492	76918870	76919047	4045	4221	1276	1335
ENST00000373344	11184	2492	76918870	76919047	4159	4335	1314	1373
ENST00000395603	11048	2492	76776880	76776976	7077	7172	2287	2319
ENST00000373344	11184	2492	76776880	76776976	7191	7286	2325	2357

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 ATRX

- 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.

ATRX_BRCA_exon_skip_515798_psi_boxplot.png
boxplot

ATRX_LGG_exon_skip_515792_psi_boxplot.png
boxplot

ATRX_LUAD_exon_skip_515792_psi_boxplot.png
boxplot

ATRX_SARC_exon_skip_515792_psi_boxplot.png
boxplot

ATRX_STAD_exon_skip_515792_psi_boxplot.png
boxplot

- 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
LGG	TCGA-HT-7676-01	exon_skip_515783	76855201	76855289	76855230	76855230	Frame_Shift_Del	G	-	p.M1882X
LGG	TCGA-HT-7676-01	exon_skip_515783	76855201	76855289	76855230	76855230	Frame_Shift_Del	G	-	p.S1919fs
LIHC	TCGA-DD-A1EG-01	exon_skip_515785	76874274	76874449	76874316	76874316	Frame_Shift_Del	T	-	p.K1802fs
UCEC	TCGA-D1-A17H-01	exon_skip_515785	76874274	76874449	76874316	76874316	Frame_Shift_Del	T	-	p.K1802fs
LGG	TCGA-FG-A4MY-01	exon_skip_515785	76874274	76874449	76874425	76874425	Frame_Shift_Del	T	-	p.K1766fs
LGG	TCGA-QH-A65S-01	exon_skip_515788	76918871	76919047	76918915	76918915	Frame_Shift_Del	T	-	p.K1321fs
LGG	TCGA-QH-A65S-01	exon_skip_515788	76918871	76919047	76918915	76918915	Frame_Shift_Del	T	-	p.K1359fs
LGG	TCGA-WY-A858-01	exon_skip_515788	76918871	76919047	76918921	76918921	Frame_Shift_Del	T	-	p.K1357fs
LIHC	TCGA-DD-A39Y-01	exon_skip_515788	76918871	76919047	76918921	76918921	Frame_Shift_Del	T	-	p.K1357fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_515788	76918871	76919047	76918921	76918921	Frame_Shift_Del	T	-	p.K1357fs
STAD	TCGA-HU-A4G8-01	exon_skip_515788	76918871	76919047	76918921	76918921	Frame_Shift_Del	T	-	p.K1357fs
LGG	TCGA-HT-7855-01	exon_skip_515788	76918871	76919047	76918950	76918951	Frame_Shift_Del	CA	-	p.1309_1310del
LGG	TCGA-HT-7855-01	exon_skip_515788	76918871	76919047	76918950	76918951	Frame_Shift_Del	CA	-	p.V1347fs
LGG	TCGA-HW-7490-01	exon_skip_515788	76918871	76919047	76918976	76918977	Frame_Shift_Del	TA	-	p.1301_1301del
LGG	TCGA-HW-7490-01	exon_skip_515788	76918871	76919047	76918976	76918977	Frame_Shift_Del	TA	-	p.HR1338fs
LGG	TCGA-P5-A5EU-01	exon_skip_515788	76918871	76919047	76919034	76919035	Frame_Shift_Del	TT	-	p.Q1319fs
COAD	TCGA-A6-5665-01	exon_skip_515788	76918871	76919047	76919038	76919038	Frame_Shift_Del	T	-	p.N1280fs
KIRC	TCGA-B4-5844-01	exon_skip_515788	76918871	76919047	76919038	76919038	Frame_Shift_Del	T	-	p.N1318fs
SARC	TCGA-DX-A8BU-01	exon_skip_515792	76937012	76940085	76937049	76937053	Frame_Shift_Del	TAAAT	-	p.N1232fs
SARC	TCGA-DX-A8BU-01	exon_skip_515792	76937012	76940085	76937049	76937053	Frame_Shift_Del	TAAAT	-	p.NL1232fs
GBM	TCGA-14-4157-01	exon_skip_515792	76937012	76940085	76937111	76937111	Frame_Shift_Del	G	-	p.Q1213fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_515792	76937012	76940085	76937188	76937188	Frame_Shift_Del	T	-	p.N1187fs
KICH	TCGA-KO-8408-01	exon_skip_515792	76937012	76940085	76937378	76937378	Frame_Shift_Del	A	-	p.S1086fs
KICH	TCGA-KO-8408-01	exon_skip_515792	76937012	76940085	76937378	76937378	Frame_Shift_Del	A	-	p.S1124fs
LGG	TCGA-E1-A7YW-01	exon_skip_515792	76937012	76940085	76937426	76937426	Frame_Shift_Del	A	-	p.S1110fs
LGG	TCGA-HT-7472-01	exon_skip_515792	76937012	76940085	76937477	76937480	Frame_Shift_Del	TCTC	-	p.1052_1053del
LGG	TCGA-HT-7472-01	exon_skip_515792	76937012	76940085	76937477	76937480	Frame_Shift_Del	TCTC	-	p.EK1090fs
LGG	TCGA-S9-A6U1-01	exon_skip_515792	76937012	76940085	76937477	76937480	Frame_Shift_Del	TCTC	-	p.EK1090fs
PCPG	TCGA-SR-A6MX-05	exon_skip_515792	76937012	76940085	76937573	76937573	Frame_Shift_Del	C	-	p.E1059fs
STAD	TCGA-MX-A5UJ-01	exon_skip_515792	76937012	76940085	76937581	76937581	Frame_Shift_Del	T	-	p.K1056fs
STAD	TCGA-MX-A5UJ-01	exon_skip_515792	76937012	76940085	76937581	76937581	Frame_Shift_Del	T	-	p.K1057fs
LGG	TCGA-E1-A7YV-01	exon_skip_515792	76937012	76940085	76937602	76937602	Frame_Shift_Del	A	-	p.I1049fs
LGG	TCGA-TM-A84T-01	exon_skip_515792	76937012	76940085	76937603	76937603	Frame_Shift_Del	T	-	p.I1049fs
LGG	TCGA-IK-7675-01	exon_skip_515792	76937012	76940085	76937611	76937615	Frame_Shift_Del	CTTTT	-	p.1007_1008del
LGG	TCGA-IK-7675-01	exon_skip_515792	76937012	76940085	76937611	76937615	Frame_Shift_Del	CTTTT	-	p.KS1045fs
LGG	TCGA-QH-A6X3-01	exon_skip_515792	76937012	76940085	76937611	76937615	Frame_Shift_Del	CTTTT	-	p.KS1045fs
LGG	TCGA-HW-A5KM-01	exon_skip_515792	76937012	76940085	76937664	76937697	Frame_Shift_Del	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	-	p.EKLPEREEICHF1017fs
LGG	TCGA-FG-A711-01	exon_skip_515792	76937012	76940085	76937737	76937740	Frame_Shift_Del	TTAA	-	p.IK1003fs
LGG	TCGA-TM-A84Q-01	exon_skip_515792	76937012	76940085	76937741	76937744	Frame_Shift_Del	TTAC	-	p.VI1002fs
LGG	TCGA-DU-7298-01	exon_skip_515792	76937012	76940085	76937745	76937745	Frame_Shift_Del	T	-	p.K1001fs
LGG	TCGA-DU-7298-01	exon_skip_515792	76937012	76940085	76937745	76937745	Frame_Shift_Del	T	-	p.V964X
LGG	TCGA-HT-7604-01	exon_skip_515792	76937012	76940085	76937745	76937745	Frame_Shift_Del	T	-	p.K1001fs
LGG	TCGA-HT-7604-01	exon_skip_515792	76937012	76940085	76937745	76937745	Frame_Shift_Del	T	-	p.V964X
SARC	TCGA-DX-A8BV-01	exon_skip_515792	76937012	76940085	76937766	76937769	Frame_Shift_Del	TTTC	-	p.K993fs
SARC	TCGA-DX-A8BV-01	exon_skip_515792	76937012	76940085	76937766	76937769	Frame_Shift_Del	TTTC	-	p.KK993fs
LGG	TCGA-DB-A4XD-01	exon_skip_515792	76937012	76940085	76937770	76937770	Frame_Shift_Del	T	-	p.K994fs
PCPG	TCGA-RW-A8AZ-01	exon_skip_515792	76937012	76940085	76937831	76937834	Frame_Shift_Del	GGTC	-	p.DQ972fs
LGG	TCGA-DU-A5TW-01	exon_skip_515792	76937012	76940085	76937833	76937836	Frame_Shift_Del	TCTT	-	p.933_934del
LGG	TCGA-DU-A5TW-01	exon_skip_515792	76937012	76940085	76937833	76937836	Frame_Shift_Del	TCTT	-	p.KD971fs
LGG	TCGA-P5-A733-01	exon_skip_515792	76937012	76940085	76937833	76937836	Frame_Shift_Del	TCTT	-	p.KD971fs
LIHC	TCGA-DD-A1EG-01	exon_skip_515792	76937012	76940085	76937914	76937914	Frame_Shift_Del	T	-	p.K945fs
LGG	TCGA-HT-7879-01	exon_skip_515792	76937012	76940085	76938001	76938001	Frame_Shift_Del	G	-	p.A878fs
LGG	TCGA-HT-7879-01	exon_skip_515792	76937012	76940085	76938001	76938001	Frame_Shift_Del	G	-	p.A916fs
LGG	TCGA-DH-A7UV-01	exon_skip_515792	76937012	76940085	76938029	76938029	Frame_Shift_Del	G	-	p.R907fs
LGG	TCGA-HT-7873-01	exon_skip_515792	76937012	76940085	76938029	76938029	Frame_Shift_Del	G	-	p.R869fs
LGG	TCGA-HT-7873-01	exon_skip_515792	76937012	76940085	76938029	76938029	Frame_Shift_Del	G	-	p.R907fs
GBM	TCGA-06-0129-01	exon_skip_515792	76937012	76940085	76938089	76938092	Frame_Shift_Del	TCTC	-	p.E886fs
LGG	TCGA-DB-A4XC-01	exon_skip_515792	76937012	76940085	76938089	76938092	Frame_Shift_Del	TCTC	-	p.848_849del
LGG	TCGA-DB-A4XC-01	exon_skip_515792	76937012	76940085	76938089	76938092	Frame_Shift_Del	TCTC	-	p.ET886fs
LGG	TCGA-HT-8114-01	exon_skip_515792	76937012	76940085	76938089	76938092	Frame_Shift_Del	TCTC	-	p.ET886fs
LGG	TCGA-DH-A66B-01	exon_skip_515792	76937012	76940085	76938097	76938100	Frame_Shift_Del	TCTT	-	p.845_846del
LGG	TCGA-DH-A66B-01	exon_skip_515792	76937012	76940085	76938097	76938100	Frame_Shift_Del	TCTT	-	p.QE883fs
LGG	TCGA-DU-A7TI-01	exon_skip_515792	76937012	76940085	76938099	76938100	Frame_Shift_Del	TT	-	p.Q883fs
LGG	TCGA-QH-A6XA-01	exon_skip_515792	76937012	76940085	76938114	76938114	Frame_Shift_Del	A	-	p.D878fs
LGG	TCGA-TQ-A7RV-01	exon_skip_515792	76937012	76940085	76938182	76938183	Frame_Shift_Del	TG	-	p.HS855fs
LGG	TCGA-TQ-A7RV-02	exon_skip_515792	76937012	76940085	76938182	76938183	Frame_Shift_Del	TG	-	p.HS855fs
LGG	TCGA-VM-A8CH-01	exon_skip_515792	76937012	76940085	76938201	76938202	Frame_Shift_Del	AG	-	p.S850fs
UCEC	TCGA-D1-A17M-01	exon_skip_515792	76937012	76940085	76938230	76938230	Frame_Shift_Del	T	-	p.R840fs
SARC	TCGA-3B-A9HI-01	exon_skip_515792	76937012	76940085	76938266	76938266	Frame_Shift_Del	T	-	p.M828fs
LGG	TCGA-DU-7301-01	exon_skip_515792	76937012	76940085	76938271	76938272	Frame_Shift_Del	TT	-	p.788_788del
LGG	TCGA-DU-7301-01	exon_skip_515792	76937012	76940085	76938271	76938272	Frame_Shift_Del	TT	-	p.K826fs
SARC	TCGA-WP-A9GB-01	exon_skip_515792	76937012	76940085	76938289	76938290	Frame_Shift_Del	TC	-	p.E820fs
LGG	TCGA-S9-A7R8-01	exon_skip_515792	76937012	76940085	76938331	76938331	Frame_Shift_Del	T	-	p.K807fs
SARC	TCGA-QC-AA9N-01	exon_skip_515792	76937012	76940085	76938331	76938331	Frame_Shift_Del	T	-	p.K806fs
SARC	TCGA-QC-AA9N-01	exon_skip_515792	76937012	76940085	76938331	76938331	Frame_Shift_Del	T	-	p.K807fs
LIHC	TCGA-DD-A1EG-01	exon_skip_515792	76937012	76940085	76938401	76938401	Frame_Shift_Del	T	-	p.S784fs
LIHC	TCGA-DD-A3A0-01	exon_skip_515792	76937012	76940085	76938401	76938401	Frame_Shift_Del	T	-	p.S784fs
LIHC	TCGA-DD-A1EG-01	exon_skip_515792	76937012	76940085	76938413	76938413	Frame_Shift_Del	T	-	p.R779fs
LIHC	TCGA-DD-A3A0-01	exon_skip_515792	76937012	76940085	76938413	76938413	Frame_Shift_Del	T	-	p.R779fs
LGG	TCGA-TQ-A7RR-01	exon_skip_515792	76937012	76940085	76938484	76938484	Frame_Shift_Del	T	-	p.N755fs
ACC	TCGA-OR-A5LJ-01	exon_skip_515792	76937012	76940085	76938582	76938585	Frame_Shift_Del	TGAT	-	p.684_685del
ACC	TCGA-OR-A5LJ-01	exon_skip_515792	76937012	76940085	76938582	76938585	Frame_Shift_Del	TGAT	-	p.722_723del
LGG	TCGA-HT-7611-01	exon_skip_515792	76937012	76940085	76938601	76938605	Frame_Shift_Del	AATTT	-	p.677_678del
LGG	TCGA-HT-7611-01	exon_skip_515792	76937012	76940085	76938601	76938605	Frame_Shift_Del	AATTT	-	p.KL715fs
LGG	TCGA-S9-A6WO-01	exon_skip_515792	76937012	76940085	76938678	76938679	Frame_Shift_Del	TT	-	p.K690fs
LGG	TCGA-DB-5280-01	exon_skip_515792	76937012	76940085	76938749	76938765	Frame_Shift_Del	GTCGCCTCAAGGGTGTA	-	p.624_629del
LGG	TCGA-DB-5280-01	exon_skip_515792	76937012	76940085	76938749	76938765	Frame_Shift_Del	GTCGCCTCAAGGGTGTA	-	p.TTPLRRP661fs
LGG	TCGA-DU-6395-01	exon_skip_515792	76937012	76940085	76938777	76938777	Frame_Shift_Del	T	-	p.P657fs
LGG	TCGA-DU-6395-01	exon_skip_515792	76937012	76940085	76938777	76938777	Frame_Shift_Del	T	-	p.R620fs
LGG	TCGA-HW-7493-01	exon_skip_515792	76937012	76940085	76938832	76938832	Frame_Shift_Del	A	-	p.L639fs
LGG	TCGA-S9-A7IZ-01	exon_skip_515792	76937012	76940085	76938929	76938929	Frame_Shift_Del	C	-	p.E607fs
PRAD	TCGA-V1-A9OY-01	exon_skip_515792	76937012	76940085	76938946	76938956	Frame_Shift_Del	TTAATTGGGGA	-	p.SPIK598fs
LIHC	TCGA-DD-A1EG-01	exon_skip_515792	76937012	76940085	76938996	76938996	Frame_Shift_Del	T	-	p.K584fs
SARC	TCGA-PC-A5DM-01	exon_skip_515792	76937012	76940085	76939007	76939014	Frame_Shift_Del	TAGCTGTA	-	p.TTAK578fs
LGG	TCGA-DU-5851-01	exon_skip_515792	76937012	76940085	76939056	76939060	Frame_Shift_Del	ATTTA	-	p.525_527del
LGG	TCGA-DU-5851-01	exon_skip_515792	76937012	76940085	76939056	76939060	Frame_Shift_Del	ATTTA	-	p.LN563fs
LGG	TCGA-DB-5276-01	exon_skip_515792	76937012	76940085	76939181	76939184	Frame_Shift_Del	AGGA	-	p.484_485del
LGG	TCGA-DB-5276-01	exon_skip_515792	76937012	76940085	76939181	76939184	Frame_Shift_Del	AGGA	-	p.SS522fs
SARC	TCGA-HS-A5N9-01	exon_skip_515792	76937012	76940085	76939250	76939250	Frame_Shift_Del	C	-	p.E501fs
PCPG	TCGA-QR-A6GT-01	exon_skip_515792	76937012	76940085	76939263	76939263	Frame_Shift_Del	T	-	p.K495fs
LGG	TCGA-DU-6407-01	exon_skip_515792	76937012	76940085	76939340	76939343	Frame_Shift_Del	CTAC	-	p.431_432del
LGG	TCGA-DU-6407-01	exon_skip_515792	76937012	76940085	76939340	76939343	Frame_Shift_Del	CTAC	-	p.VD469fs
LGG	TCGA-HT-7476-01	exon_skip_515792	76937012	76940085	76939347	76939348	Frame_Shift_Del	TT	-	p.429_430del
LGG	TCGA-HT-7476-01	exon_skip_515792	76937012	76940085	76939347	76939348	Frame_Shift_Del	TT	-	p.K467fs
LGG	TCGA-HT-A618-01	exon_skip_515792	76937012	76940085	76939387	76939387	Frame_Shift_Del	T	-	p.K416fs
LGG	TCGA-HT-A618-01	exon_skip_515792	76937012	76940085	76939387	76939387	Frame_Shift_Del	T	-	p.K455fs
SARC	TCGA-DX-AATS-01	exon_skip_515792	76937012	76940085	76939398	76939419	Frame_Shift_Del	ACAAGGTTTTTCTCCTTTTCGT	-	p.ARKGEKPC443fs
SARC	TCGA-DX-AATS-01	exon_skip_515792	76937012	76940085	76939398	76939419	Frame_Shift_Del	ACAAGGTTTTTCTCCTTTTCGT	-	p.R444fs
LGG	TCGA-E1-A7Z6-01	exon_skip_515792	76937012	76940085	76939469	76939470	Frame_Shift_Del	TC	-	p.EK426fs
LGG	TCGA-FG-8188-01	exon_skip_515792	76937012	76940085	76939473	76939474	Frame_Shift_Del	TT	-	p.387_388del
LGG	TCGA-FG-8188-01	exon_skip_515792	76937012	76940085	76939473	76939474	Frame_Shift_Del	TT	-	p.K425fs
SARC	TCGA-X2-A95T-01	exon_skip_515792	76937012	76940085	76939473	76939474	Frame_Shift_Del	TT	-	p.K425fs
LGG	TCGA-HT-7469-01	exon_skip_515792	76937012	76940085	76939510	76939511	Frame_Shift_Del	AA	-	p.375_375del
LGG	TCGA-HT-7469-01	exon_skip_515792	76937012	76940085	76939510	76939511	Frame_Shift_Del	AA	-	p.L413fs
LGG	TCGA-HT-7858-01	exon_skip_515792	76937012	76940085	76939540	76939540	Frame_Shift_Del	T	-	p.K365fs
LGG	TCGA-HT-7858-01	exon_skip_515792	76937012	76940085	76939540	76939540	Frame_Shift_Del	T	-	p.K404fs
LGG	TCGA-DH-A7UV-01	exon_skip_515792	76937012	76940085	76939607	76939607	Frame_Shift_Del	A	-	p.S381fs
LGG	TCGA-DB-A75M-01	exon_skip_515792	76937012	76940085	76939652	76939652	Frame_Shift_Del	T	-	p.M366fs
LGG	TCGA-F6-A8O4-01	exon_skip_515792	76937012	76940085	76939666	76939669	Frame_Shift_Del	TCAA	-	p.IE360fs
LGG	TCGA-VM-A8CF-01	exon_skip_515792	76937012	76940085	76939666	76939669	Frame_Shift_Del	TCAA	-	p.IE360fs
GBM	TCGA-19-2629-01	exon_skip_515792	76937012	76940085	76939674	76939675	Frame_Shift_Del	TT	-	p.K358fs
LGG	TCGA-CS-4938-01	exon_skip_515792	76937012	76940085	76939674	76939674	Frame_Shift_Del	T	-	p.K358fs
LGG	TCGA-CS-4938-01	exon_skip_515792	76937012	76940085	76939674	76939674	Frame_Shift_Del	T	-	p.L321X
LGG	TCGA-P5-A5EW-01	exon_skip_515792	76937012	76940085	76939758	76939762	Frame_Shift_Del	TTTCT	-	p.291_293del
LGG	TCGA-P5-A5EW-01	exon_skip_515792	76937012	76940085	76939758	76939762	Frame_Shift_Del	TTTCT	-	p.KK329fs
LIHC	TCGA-DD-A3A0-01	exon_skip_515792	76937012	76940085	76939827	76939827	Frame_Shift_Del	T	-	p.K307fs
LGG	TCGA-DU-6399-01	exon_skip_515792	76937012	76940085	76939864	76939864	Frame_Shift_Del	T	-	p.K257fs
LGG	TCGA-DU-6399-01	exon_skip_515792	76937012	76940085	76939864	76939864	Frame_Shift_Del	T	-	p.K297fs
LGG	TCGA-S9-A7QX-01	exon_skip_515792	76937012	76940085	76939883	76939883	Frame_Shift_Del	G	-	p.Q289fs
LGG	TCGA-FG-8185-01	exon_skip_515792	76937012	76940085	76939914	76939915	Frame_Shift_Del	AG	-	p.240_241del
LGG	TCGA-FG-8185-01	exon_skip_515792	76937012	76940085	76939914	76939915	Frame_Shift_Del	AG	-	p.T278fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_515792	76937012	76940085	76939946	76939946	Frame_Shift_Del	A	-	p.C268fs
LGG	TCGA-DU-7015-01	exon_skip_515792	76937012	76940085	76939957	76939957	Frame_Shift_Del	T	-	p.Y226fs
LGG	TCGA-DU-7015-01	exon_skip_515792	76937012	76940085	76939957	76939957	Frame_Shift_Del	T	-	p.Y264fs
BRCA	TCGA-A8-A075-01	exon_skip_515798	76949313	76949426	76949382	76949382	Frame_Shift_Del	C	-	p.D139fs
STAD	TCGA-HU-A4GT-01	exon_skip_515776	76829715	76829823	76829815	76829816	Frame_Shift_Ins	-	C	p.K2076fs
STAD	TCGA-HU-A4GT-01	exon_skip_515776	76829715	76829823	76829816	76829817	Frame_Shift_Ins	-	C	p.G2075fs
LGG	TCGA-HT-7470-01	exon_skip_515785	76874274	76874449	76874329	76874330	Frame_Shift_Ins	-	T	p.R1760fs
LGG	TCGA-HT-7470-01	exon_skip_515785	76874274	76874449	76874329	76874330	Frame_Shift_Ins	-	T	p.S1798fs
SKCM	TCGA-EE-A2GE-06	exon_skip_515785	76874274	76874449	76874353	76874354	Frame_Shift_Ins	-	CACA	p.A1752fs
SKCM	TCGA-EE-A2GE-06	exon_skip_515785	76874274	76874449	76874353	76874354	Frame_Shift_Ins	-	CACA	p.R1790fs
LGG	TCGA-S9-A6U6-01	exon_skip_515788	76918871	76919047	76918997	76918998	Frame_Shift_Ins	-	A	p.E1332fs
LGG	TCGA-CS-6666-01	exon_skip_515788	76918871	76919047	76919037	76919038	Frame_Shift_Ins	-	T	p.N1280fs
LGG	TCGA-CS-6666-01	exon_skip_515788	76918871	76919047	76919037	76919038	Frame_Shift_Ins	-	T	p.T1318fs
LIHC	TCGA-BC-A112-01	exon_skip_515788	76918871	76919047	76919037	76919038	Frame_Shift_Ins	-	T	p.T1318fs
LGG	TCGA-HT-8114-01	exon_skip_515792	76937012	76940085	76937602	76937603	Frame_Shift_Ins	-	T	p.I1011fs
LGG	TCGA-HT-8114-01	exon_skip_515792	76937012	76940085	76937602	76937603	Frame_Shift_Ins	-	T	p.K1049fs
STAD	TCGA-CD-8535-01	exon_skip_515792	76937012	76940085	76937769	76937770	Frame_Shift_Ins	-	T	p.K993fs
STAD	TCGA-CD-8535-01	exon_skip_515792	76937012	76940085	76937770	76937771	Frame_Shift_Ins	-	T	p.K993fs
LGG	TCGA-DU-A5TS-01	exon_skip_515792	76937012	76940085	76938084	76938085	Frame_Shift_Ins	-	A	p.F850fs
LGG	TCGA-DU-A5TS-01	exon_skip_515792	76937012	76940085	76938084	76938085	Frame_Shift_Ins	-	A	p.F888fs
COAD	TCGA-CM-5861-01	exon_skip_515792	76937012	76940085	76938229	76938230	Frame_Shift_Ins	-	T	p.R802fs
LIHC	TCGA-BC-A112-01	exon_skip_515792	76937012	76940085	76938229	76938230	Frame_Shift_Ins	-	T	p.N840fs
SARC	TCGA-DX-A8BM-01	exon_skip_515792	76937012	76940085	76938366	76938367	Frame_Shift_Ins	-	T	p.K796fs
SARC	TCGA-DX-A8BM-01	exon_skip_515792	76937012	76940085	76938366	76938367	Frame_Shift_Ins	-	T	p.R794fs
LGG	TCGA-HT-7473-01	exon_skip_515792	76937012	76940085	76938452	76938453	Frame_Shift_Ins	-	T	p.D728fs
LGG	TCGA-HT-7473-01	exon_skip_515792	76937012	76940085	76938452	76938453	Frame_Shift_Ins	-	T	p.F766fs
LGG	TCGA-FG-8182-01	exon_skip_515792	76937012	76940085	76938654	76938655	Frame_Shift_Ins	-	T	p.R698fs
LGG	TCGA-HW-7489-01	exon_skip_515792	76937012	76940085	76938654	76938655	Frame_Shift_Ins	-	T	p.K660fs
LGG	TCGA-HW-7489-01	exon_skip_515792	76937012	76940085	76938654	76938655	Frame_Shift_Ins	-	T	p.R698fs
LIHC	TCGA-BC-A112-01	exon_skip_515792	76937012	76940085	76938898	76938899	Frame_Shift_Ins	-	T	p.L617fs
LGG	TCGA-DB-5270-01	exon_skip_515792	76937012	76940085	76939371	76939372	Frame_Shift_Ins	-	T	p.I459fs
LGG	TCGA-S9-A7QW-01	exon_skip_515792	76937012	76940085	76939556	76939557	Frame_Shift_Ins	-	A	p.V398fs
STAD	TCGA-BR-6452-01	exon_skip_515792	76937012	76940085	76939626	76939627	Frame_Shift_Ins	-	A	p.L374fs
STAD	TCGA-BR-6452-01	exon_skip_515792	76937012	76940085	76939627	76939628	Frame_Shift_Ins	-	A	p.L374fs
LGG	TCGA-HT-7689-01	exon_skip_515792	76937012	76940085	76939638	76939639	Frame_Shift_Ins	-	T	p.C370fs
LGG	TCGA-HT-7689-01	exon_skip_515792	76937012	76940085	76939638	76939639	Frame_Shift_Ins	-	T	p.Y332_V333delinsX
LGG	TCGA-DU-6401-01	exon_skip_515792	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L321fs
LGG	TCGA-DU-6401-01	exon_skip_515792	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.ND358fs
LGG	TCGA-FG-6691-01	exon_skip_515792	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L321fs
LGG	TCGA-FG-6691-01	exon_skip_515792	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.ND358fs
LGG	TCGA-HT-7884-01	exon_skip_515792	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L321fs
LGG	TCGA-HT-7884-01	exon_skip_515792	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.ND358fs
SARC	TCGA-DX-A1L2-01	exon_skip_515792	76937012	76940085	76939918	76939919	Frame_Shift_Ins	-	C	p.H277fs
SARC	TCGA-DX-A1L2-01	exon_skip_515792	76937012	76940085	76939918	76939919	Frame_Shift_Ins	-	C	p.V277fs
LGG	TCGA-E1-5303-01	exon_skip_515792	76937012	76940085	76939929	76939930	Frame_Shift_Ins	-	A	p.F273fs
LGG	TCGA-E1-5303-01	exon_skip_515792	76937012	76940085	76939929	76939930	Frame_Shift_Ins	-	A	p.L235fs
LGG	TCGA-DU-7008-01	exon_skip_515792	76937012	76940085	76940037	76940038	Frame_Shift_Ins	-	T	p.N199fs
LGG	TCGA-DU-7008-01	exon_skip_515792	76937012	76940085	76940037	76940038	Frame_Shift_Ins	-	T	p.S237fs
LGG	TCGA-CS-4943-01	exon_skip_515776	76829715	76829823	76829760	76829760	Nonsense_Mutation	G	C	p.S2094*
LGG	TCGA-CS-4943-01	exon_skip_515776	76829715	76829823	76829760	76829760	Nonsense_Mutation	G	C	p.S2094X
LGG	TCGA-P5-A736-01	exon_skip_515776	76829715	76829823	76829760	76829760	Nonsense_Mutation	G	C	p.S2094*
UCEC	TCGA-AP-A059-01	exon_skip_515776	76829715	76829823	76829806	76829806	Nonsense_Mutation	G	A	p.R2079*
ACC	TCGA-OR-A5JA-01	exon_skip_515788	76918871	76919047	76918898	76918898	Nonsense_Mutation	C	A	p.E1365*
SKCM	TCGA-ER-A3ET-06	exon_skip_515789	76931721	76931793	76931728	76931728	Nonsense_Mutation	C	A	p.E1268*
SKCM	TCGA-ER-A3ET-06	exon_skip_515789	76931721	76931793	76931728	76931728	Nonsense_Mutation	C	A	p.E1268X
SARC	TCGA-3B-A9HS-01	exon_skip_515789	76931721	76931793	76931772	76931772	Nonsense_Mutation	G	C	p.S1253*
LGG	TCGA-P5-A5EV-01	exon_skip_515792	76937012	76940085	76937038	76937038	Nonsense_Mutation	G	C	p.S1237*
LGG	TCGA-P5-A5EV-01	exon_skip_515792	76937012	76940085	76937038	76937038	Nonsense_Mutation	G	C	p.S1237X
LGG	TCGA-HT-A5R5-01	exon_skip_515792	76937012	76940085	76937081	76937081	Nonsense_Mutation	C	A	p.E1223*
LGG	TCGA-HT-A5R5-01	exon_skip_515792	76937012	76940085	76937081	76937081	Nonsense_Mutation	C	A	p.E1223X
BLCA	TCGA-FD-A6TC-01	exon_skip_515792	76937012	76940085	76937123	76937123	Nonsense_Mutation	C	A	p.E1209*
STAD	TCGA-BR-8058-01	exon_skip_515792	76937012	76940085	76937284	76937284	Nonsense_Mutation	G	C	p.S1155*
SARC	TCGA-DX-A6B8-01	exon_skip_515792	76937012	76940085	76937411	76937411	Nonsense_Mutation	C	A	p.E1113*
SARC	TCGA-DX-AB3A-01	exon_skip_515792	76937012	76940085	76937678	76937678	Nonsense_Mutation	C	A	p.E1024*
UCEC	TCGA-AX-A0J0-01	exon_skip_515792	76937012	76940085	76937678	76937678	Nonsense_Mutation	C	A	p.E1024*
COAD	TCGA-CM-5868-01	exon_skip_515792	76937012	76940085	76937849	76937849	Nonsense_Mutation	T	A	p.K967X
LGG	TCGA-HT-7880-01	exon_skip_515792	76937012	76940085	76937900	76937900	Nonsense_Mutation	T	A	p.K950*
LGG	TCGA-HT-7880-01	exon_skip_515792	76937012	76940085	76937900	76937900	Nonsense_Mutation	T	A	p.K950X
SARC	TCGA-DX-A23Y-01	exon_skip_515792	76937012	76940085	76937963	76937963	Nonsense_Mutation	G	A	p.Q929*
GBM	TCGA-32-4208-01	exon_skip_515792	76937012	76940085	76938029	76938029	Nonsense_Mutation	G	A	p.R907*
LGG	TCGA-DU-A76O-01	exon_skip_515792	76937012	76940085	76938029	76938029	Nonsense_Mutation	G	A	p.R907*
LGG	TCGA-HT-A74J-01	exon_skip_515792	76937012	76940085	76938029	76938029	Nonsense_Mutation	G	A	p.R907*
BLCA	TCGA-GD-A3OP-01	exon_skip_515792	76937012	76940085	76938191	76938191	Nonsense_Mutation	C	A	p.E853*
LIHC	TCGA-UB-A7MB-01	exon_skip_515792	76937012	76940085	76938245	76938245	Nonsense_Mutation	T	A	p.R835*
LIHC	TCGA-UB-A7MB-01	exon_skip_515792	76937012	76940085	76938245	76938245	Nonsense_Mutation	T	A	p.R835X
LGG	TCGA-WY-A85E-01	exon_skip_515792	76937012	76940085	76938297	76938297	Nonsense_Mutation	A	T	p.Y817*
LGG	TCGA-TM-A84L-01	exon_skip_515792	76937012	76940085	76938326	76938326	Nonsense_Mutation	G	A	p.R808*
LGG	TCGA-DU-A5TP-01	exon_skip_515792	76937012	76940085	76938407	76938407	Nonsense_Mutation	G	A	p.R781*
LGG	TCGA-DU-A5TP-01	exon_skip_515792	76937012	76940085	76938407	76938407	Nonsense_Mutation	G	A	p.R781X
GBM	TCGA-06-6391-01	exon_skip_515792	76937012	76940085	76938530	76938530	Nonsense_Mutation	C	A	p.E740*
LGG	TCGA-E1-A7Z4-01	exon_skip_515792	76937012	76940085	76938562	76938562	Nonsense_Mutation	G	C	p.S729*
SARC	TCGA-3B-A9I1-01	exon_skip_515792	76937012	76940085	76938581	76938581	Nonsense_Mutation	C	A	p.E723*
SARC	TCGA-SI-AA8B-01	exon_skip_515792	76937012	76940085	76938686	76938686	Nonsense_Mutation	T	A	p.K688*
LUAD	TCGA-44-7670-01	exon_skip_515792	76937012	76940085	76938718	76938718	Nonsense_Mutation	G	T	p.S677*
LUAD	TCGA-62-A46O-01	exon_skip_515792	76937012	76940085	76938718	76938718	Nonsense_Mutation	G	C	p.S677*
LGG	TCGA-P5-A5F1-01	exon_skip_515792	76937012	76940085	76938788	76938788	Nonsense_Mutation	G	A	p.R654*
LGG	TCGA-P5-A5F1-01	exon_skip_515792	76937012	76940085	76938788	76938788	Nonsense_Mutation	G	A	p.R654X
LGG	TCGA-VM-A8C8-01	exon_skip_515792	76937012	76940085	76938788	76938788	Nonsense_Mutation	G	A	p.R654*
LUAD	TCGA-95-7043-01	exon_skip_515792	76937012	76940085	76938803	76938803	Nonsense_Mutation	C	A	p.E649*
LGG	TCGA-HT-A614-01	exon_skip_515792	76937012	76940085	76938920	76938920	Nonsense_Mutation	G	A	p.Q610*
LGG	TCGA-HT-A614-01	exon_skip_515792	76937012	76940085	76938920	76938920	Nonsense_Mutation	G	A	p.Q610X
UCEC	TCGA-D1-A103-01	exon_skip_515792	76937012	76940085	76938995	76938995	Nonsense_Mutation	C	A	p.E585*
LGG	TCGA-HT-8013-01	exon_skip_515792	76937012	76940085	76939235	76939235	Nonsense_Mutation	C	A	p.E505*
LGG	TCGA-HT-8013-01	exon_skip_515792	76937012	76940085	76939235	76939235	Nonsense_Mutation	C	A	p.E505X
ACC	TCGA-OR-A5KT-01	exon_skip_515792	76937012	76940085	76939322	76939322	Nonsense_Mutation	G	A	p.Q476*
ACC	TCGA-OR-A5KT-01	exon_skip_515792	76937012	76940085	76939322	76939322	Nonsense_Mutation	G	A	p.Q476X
ACC	TCGA-OR-A5K0-01	exon_skip_515792	76937012	76940085	76939349	76939349	Nonsense_Mutation	T	A	p.K467*
ACC	TCGA-OR-A5K0-01	exon_skip_515792	76937012	76940085	76939349	76939349	Nonsense_Mutation	T	A	p.K467X
LGG	TCGA-QH-A870-01	exon_skip_515792	76937012	76940085	76939354	76939354	Nonsense_Mutation	G	C	p.S465*
LGG	TCGA-DU-A7T8-01	exon_skip_515792	76937012	76940085	76939375	76939375	Nonsense_Mutation	G	T	p.S458*
LUAD	TCGA-55-7724-01	exon_skip_515792	76937012	76940085	76939375	76939375	Nonsense_Mutation	G	C	p.S458*
SARC	TCGA-DX-A3UD-01	exon_skip_515792	76937012	76940085	76939418	76939418	Nonsense_Mutation	G	A	p.R444*
LGG	TCGA-DU-7011-01	exon_skip_515792	76937012	76940085	76939496	76939496	Nonsense_Mutation	G	A	p.R418*
LGG	TCGA-E1-5307-01	exon_skip_515792	76937012	76940085	76939496	76939496	Nonsense_Mutation	G	A	p.R418*
LGG	TCGA-E1-5307-01	exon_skip_515792	76937012	76940085	76939496	76939496	Nonsense_Mutation	G	A	p.R418X
UCEC	TCGA-AP-A059-01	exon_skip_515792	76937012	76940085	76939496	76939496	Nonsense_Mutation	G	A	p.R418*
LGG	TCGA-FG-6690-01	exon_skip_515792	76937012	76940085	76939522	76939522	Nonsense_Mutation	A	T	p.L409*
LGG	TCGA-FG-6690-01	exon_skip_515792	76937012	76940085	76939522	76939522	Nonsense_Mutation	A	T	p.L409X
SARC	TCGA-DX-A8BN-01	exon_skip_515792	76937012	76940085	76939577	76939577	Nonsense_Mutation	G	A	p.Q391*
LGG	TCGA-HT-A616-01	exon_skip_515792	76937012	76940085	76939697	76939697	Nonsense_Mutation	C	A	p.E351*
LGG	TCGA-HT-A616-01	exon_skip_515792	76937012	76940085	76939697	76939697	Nonsense_Mutation	C	A	p.E351X
SARC	TCGA-VT-AB3D-01	exon_skip_515792	76937012	76940085	76939697	76939697	Nonsense_Mutation	C	A	p.E351*
LGG	TCGA-DH-A66D-01	exon_skip_515792	76937012	76940085	76939841	76939841	Nonsense_Mutation	C	A	p.E303*
LGG	TCGA-DB-A64S-01	exon_skip_515792	76937012	76940085	76939874	76939874	Nonsense_Mutation	G	A	p.Q292*
LGG	TCGA-S9-A6WO-01	exon_skip_515792	76937012	76940085	76939959	76939959	Nonsense_Mutation	C	T	p.W263*
SARC	TCGA-HB-A2OT-01	exon_skip_515792	76937012	76940085	76939959	76939959	Nonsense_Mutation	C	T	p.W263*
LGG	TCGA-DB-5273-01	exon_skip_515792	76937012	76940085	76939964	76939964	Nonsense_Mutation	G	A	p.Q262*
LGG	TCGA-DB-5273-01	exon_skip_515792	76937012	76940085	76939964	76939964	Nonsense_Mutation	G	A	p.Q262X
LGG	TCGA-S9-A7R7-01	exon_skip_515792	76937012	76940085	76940000	76940000	Nonsense_Mutation	G	A	p.R250*
LGG	TCGA-DB-5281-01	exon_skip_515792	76937012	76940085	76940083	76940083	Nonsense_Mutation	C	T	p.W222*
LGG	TCGA-DB-5281-01	exon_skip_515792	76937012	76940085	76940083	76940083	Nonsense_Mutation	C	T	p.W222X
UCEC	TCGA-D1-A17Q-01	exon_skip_515801	76972608	76972720	76972659	76972659	Nonsense_Mutation	C	A	p.E28*
LGG	TCGA-DU-5853-01	exon_skip_515778	76845304	76845410	76845411	76845411	Splice_Site	C	T	.
DLBC	TCGA-FA-A7Q1-01	exon_skip_515778	76845304	76845410	76845412	76845413	Splice_Site	-	A	.
LGG	TCGA-DB-A4XB-01	exon_skip_515783	76855201	76855289	76855199	76855199	Splice_Site	A	G	.
SARC	TCGA-DX-AB37-01	exon_skip_515785	76874274	76874449	76874272	76874272	Splice_Site	A	T	e21+2
LGG	TCGA-DU-8166-01	exon_skip_515792	76937012	76940085	76940087	76940087	Splice_Site	T	C	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-A8-A075-01
	Cancer type: BRCA
	ESID: exon_skip_515798
	Skipped exon start: 76949313
	Skipped exon end: 76949426
	Mutation start: 76949382
	Mutation end: 76949382
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.D139fs
exon_skip_345802_BRCA_TCGA-A8-A075-01.png
exon_skip_515798_BRCA_TCGA-A8-A075-01.png
	Sample: TCGA-DU-8166-01
	Cancer type: LGG
	ESID: exon_skip_515792
	Skipped exon start: 76937012
	Skipped exon end: 76940085
	Mutation start: 76940087
	Mutation end: 76940087
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: C
	AAchange: .
exon_skip_515792_LGG_TCGA-DU-8166-01.png
	Sample: TCGA-DB-5281-01
	Cancer type: LGG
	ESID: exon_skip_515792
	Skipped exon start: 76937012
	Skipped exon end: 76940085
	Mutation start: 76940083
	Mutation end: 76940083
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W222X
	Sample: TCGA-DB-5281-01
	Cancer type: LGG
	ESID: exon_skip_515792
	Skipped exon start: 76937012
	Skipped exon end: 76940085
	Mutation start: 76940083
	Mutation end: 76940083
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W222*
exon_skip_515792_LGG_TCGA-DB-5281-01.png
	Sample: TCGA-HT-7873-01
	Cancer type: LGG
	ESID: exon_skip_515792
	Skipped exon start: 76937012
	Skipped exon end: 76940085
	Mutation start: 76938029
	Mutation end: 76938029
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.R869fs
	Sample: TCGA-HT-7873-01
	Cancer type: LGG
	ESID: exon_skip_515792
	Skipped exon start: 76937012
	Skipped exon end: 76940085
	Mutation start: 76938029
	Mutation end: 76938029
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.R907fs
exon_skip_515792_LGG_TCGA-HT-7873-01.png
	Sample: TCGA-BR-6452-01
	Cancer type: STAD
	ESID: exon_skip_515792
	Skipped exon start: 76937012
	Skipped exon end: 76940085
	Mutation start: 76939626
	Mutation end: 76939627
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: A
	AAchange: p.L374fs
	Sample: TCGA-BR-6452-01
	Cancer type: STAD
	ESID: exon_skip_515792
	Skipped exon start: 76937012
	Skipped exon end: 76940085
	Mutation start: 76939627
	Mutation end: 76939628
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: A
	AAchange: p.L374fs
exon_skip_106795_STAD_TCGA-BR-6452-01.png
exon_skip_108765_STAD_TCGA-BR-6452-01.png
exon_skip_108766_STAD_TCGA-BR-6452-01.png
exon_skip_121160_STAD_TCGA-BR-6452-01.png
exon_skip_23930_STAD_TCGA-BR-6452-01.png
exon_skip_285856_STAD_TCGA-BR-6452-01.png
exon_skip_287166_STAD_TCGA-BR-6452-01.png
exon_skip_289814_STAD_TCGA-BR-6452-01.png
exon_skip_294522_STAD_TCGA-BR-6452-01.png
exon_skip_306852_STAD_TCGA-BR-6452-01.png
exon_skip_32096_STAD_TCGA-BR-6452-01.png
exon_skip_323984_STAD_TCGA-BR-6452-01.png
exon_skip_328488_STAD_TCGA-BR-6452-01.png
exon_skip_346425_STAD_TCGA-BR-6452-01.png
exon_skip_346426_STAD_TCGA-BR-6452-01.png
exon_skip_346508_STAD_TCGA-BR-6452-01.png
exon_skip_363933_STAD_TCGA-BR-6452-01.png
exon_skip_36702_STAD_TCGA-BR-6452-01.png
exon_skip_374468_STAD_TCGA-BR-6452-01.png
exon_skip_374469_STAD_TCGA-BR-6452-01.png
exon_skip_3814_STAD_TCGA-BR-6452-01.png
exon_skip_3815_STAD_TCGA-BR-6452-01.png
exon_skip_38648_STAD_TCGA-BR-6452-01.png
exon_skip_42656_STAD_TCGA-BR-6452-01.png
exon_skip_434406_STAD_TCGA-BR-6452-01.png
exon_skip_450406_STAD_TCGA-BR-6452-01.png
exon_skip_489149_STAD_TCGA-BR-6452-01.png
exon_skip_495200_STAD_TCGA-BR-6452-01.png
exon_skip_496317_STAD_TCGA-BR-6452-01.png
exon_skip_503611_STAD_TCGA-BR-6452-01.png
exon_skip_515792_STAD_TCGA-BR-6452-01.png
exon_skip_516330_STAD_TCGA-BR-6452-01.png
exon_skip_98550_STAD_TCGA-BR-6452-01.png

- 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
HEC151_ENDOMETRIUM	76937012	76940085	76937602	76937602	Frame_Shift_Del	A	-	p.I1049fs
HEC151_ENDOMETRIUM	76937012	76940085	76938089	76938090	Frame_Shift_Del	TC	-	p.ET886fs
SW48_LARGE_INTESTINE	76937012	76940085	76938089	76938090	Frame_Shift_Del	TC	-	p.ET886fs
HEC151_ENDOMETRIUM	76937012	76940085	76939674	76939674	Frame_Shift_Del	T	-	p.K358fs
GP2D_LARGE_INTESTINE	76937012	76940085	76939674	76939674	Frame_Shift_Del	T	-	p.K358fs
GP5D_LARGE_INTESTINE	76937012	76940085	76939674	76939674	Frame_Shift_Del	T	-	p.K358fs
CAL51_BREAST	76937012	76940085	76939924	76939924	Frame_Shift_Del	T	-	p.D275fs
EN_ENDOMETRIUM	76874274	76874449	76874315	76874316	Frame_Shift_Ins	-	T	p.R1803fs
EN_ENDOMETRIUM	76918871	76919047	76918920	76918921	Frame_Shift_Ins	-	T	p.K1357fs
HCC1359_LUNG	76937012	76940085	76937602	76937603	Frame_Shift_Ins	-	T	p.I1049fs
OC316_OVARY	76937012	76940085	76938229	76938230	Frame_Shift_Ins	-	T	p.R840fs
OC314_OVARY	76937012	76940085	76938229	76938230	Frame_Shift_Ins	-	T	p.R840fs
ACCMESO1_PLEURA	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
AN3CA_ENDOMETRIUM	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
BEN_LUNG	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
BHY_UPPER_AERODIGESTIVE_TRACT	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
CCFSTTG1_CENTRAL_NERVOUS_SYSTEM	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
DV90_LUNG	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
EHEB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
GI1_CENTRAL_NERVOUS_SYSTEM	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
HCC1171_LUNG	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
HPAFII_PANCREAS	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
HS606T_FIBROBLAST	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
HS695T_SKIN	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
HS737T_FIBROBLAST	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
HS739T_FIBROBLAST	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
HS939T_SKIN	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
INA6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
JHOS4_OVARY	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
KPL1_BREAST	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
MHHES1_BONE	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
MKN7_STOMACH	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
NCIH1876_LUNG	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
OE33_OESOPHAGUS	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
SJSA1_BONE	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
SLR21_KIDNEY	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
SNGM_ENDOMETRIUM	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
SNU1077_ENDOMETRIUM	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
SW620_LARGE_INTESTINE	76937012	76940085	76939673	76939674	Frame_Shift_Ins	-	T	p.L359fs
SNU407_LARGE_INTESTINE	76937012	76940085	76937241	76937243	In_Frame_Del	CTT	-	p.K1169del
BALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76937012	76940085	76940062	76940064	In_Frame_Del	AAG	-	p.228_229NL>K
BICR18_UPPER_AERODIGESTIVE_TRACT	76845304	76845410	76845323	76845323	Missense_Mutation	A	T	p.D2066E
OC316_OVARY	76845304	76845410	76845345	76845345	Missense_Mutation	C	A	p.R2059M
OC314_OVARY	76845304	76845410	76845345	76845345	Missense_Mutation	C	A	p.R2059M
SKMEL2_SKIN	76845304	76845410	76845355	76845355	Missense_Mutation	A	T	p.L2056I
JHUEM7_ENDOMETRIUM	76918871	76919047	76918876	76918876	Missense_Mutation	C	A	p.R1372I
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	76918871	76919047	76918975	76918975	Missense_Mutation	C	A	p.R1339M
YKG1_CENTRAL_NERVOUS_SYSTEM	76918871	76919047	76919028	76919028	Missense_Mutation	A	T	p.N1321K
HS618T_FIBROBLAST	76918871	76919047	76919029	76919029	Missense_Mutation	T	C	p.N1321S
KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76931721	76931793	76931736	76931736	Missense_Mutation	T	C	p.N1265S
BICR18_UPPER_AERODIGESTIVE_TRACT	76931721	76931793	76931763	76931763	Missense_Mutation	A	G	p.V1256A
KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76931721	76931793	76931778	76931778	Missense_Mutation	G	A	p.S1251F
SNU5_STOMACH	76937012	76940085	76937102	76937102	Missense_Mutation	T	C	p.I1216V
NCIH1930_LUNG	76937012	76940085	76937124	76937124	Missense_Mutation	T	C	p.I1208M
HCC1395_BREAST	76937012	76940085	76937225	76937225	Missense_Mutation	T	C	p.K1175E
OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76937012	76940085	76937243	76937243	Missense_Mutation	T	G	p.K1169Q
PCI30_UPPER_AERODIGESTIVE_TRACT	76937012	76940085	76937243	76937243	Missense_Mutation	T	G	p.K1169Q
JHUEM7_ENDOMETRIUM	76937012	76940085	76937311	76937311	Missense_Mutation	G	T	p.T1146N
HT115_LARGE_INTESTINE	76937012	76940085	76937335	76937335	Missense_Mutation	C	A	p.R1138I
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76937012	76940085	76937377	76937377	Missense_Mutation	G	A	p.S1124F
NCIH2081_LUNG	76937012	76940085	76937401	76937401	Missense_Mutation	G	C	p.S1116C
SW756_CERVIX	76937012	76940085	76937438	76937438	Missense_Mutation	T	C	p.R1104G
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76937012	76940085	76937616	76937616	Missense_Mutation	C	A	p.K1044N
MCC13_SKIN	76937012	76940085	76937623	76937623	Missense_Mutation	C	T	p.G1042E
ES2_OVARY	76937012	76940085	76937764	76937764	Missense_Mutation	G	A	p.P995L
KD_SOFT_TISSUE	76937012	76940085	76937793	76937793	Missense_Mutation	G	T	p.S985R
MDAMB361_BREAST	76937012	76940085	76938079	76938079	Missense_Mutation	G	A	p.S890L
MM370_SKIN	76937012	76940085	76938082	76938082	Missense_Mutation	G	A	p.S889F
SNU1066_UPPER_AERODIGESTIVE_TRACT	76937012	76940085	76938116	76938116	Missense_Mutation	C	T	p.D878N
HT115_LARGE_INTESTINE	76937012	76940085	76938141	76938141	Missense_Mutation	C	A	p.K869N
HCC2998_LARGE_INTESTINE	76937012	76940085	76938150	76938150	Missense_Mutation	T	G	p.K866N
HEC1A_ENDOMETRIUM	76937012	76940085	76938169	76938169	Missense_Mutation	A	G	p.M860T
HEC1B_ENDOMETRIUM	76937012	76940085	76938169	76938169	Missense_Mutation	A	G	p.M860T
GP2D_LARGE_INTESTINE	76937012	76940085	76938192	76938192	Missense_Mutation	A	T	p.D852E
GP5D_LARGE_INTESTINE	76937012	76940085	76938192	76938192	Missense_Mutation	A	T	p.D852E
NCIH187_LUNG	76937012	76940085	76938212	76938212	Missense_Mutation	C	G	p.D846H
TUHR10TKB_KIDNEY	76937012	76940085	76938271	76938271	Missense_Mutation	T	C	p.K826R
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76937012	76940085	76938285	76938285	Missense_Mutation	T	A	p.L821F
HCE4_OESOPHAGUS	76937012	76940085	76938365	76938365	Missense_Mutation	C	T	p.G795S
LS123_LARGE_INTESTINE	76937012	76940085	76938416	76938416	Missense_Mutation	T	C	p.K778E
SNU81_LARGE_INTESTINE	76937012	76940085	76938462	76938462	Missense_Mutation	C	A	p.K762N
BE2M17_AUTONOMIC_GANGLIA	76937012	76940085	76938483	76938483	Missense_Mutation	A	C	p.N755K
SKNBE2_AUTONOMIC_GANGLIA	76937012	76940085	76938483	76938483	Missense_Mutation	A	C	p.N755K
CCK81_LARGE_INTESTINE	76937012	76940085	76938509	76938509	Missense_Mutation	T	G	p.S747R
NCIH446_LUNG	76937012	76940085	76938684	76938684	Missense_Mutation	T	A	p.K688N
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76937012	76940085	76938689	76938689	Missense_Mutation	C	T	p.E687K
BICR56_UPPER_AERODIGESTIVE_TRACT	76937012	76940085	76938713	76938713	Missense_Mutation	C	T	p.E679K
SKGIIIA_CERVIX	76937012	76940085	76938724	76938724	Missense_Mutation	G	A	p.S675F
NCIH1155_LUNG	76937012	76940085	76938803	76938803	Missense_Mutation	C	T	p.E649K
HCT15_LARGE_INTESTINE	76937012	76940085	76938862	76938862	Missense_Mutation	A	C	p.L629R
HRT18_LARGE_INTESTINE	76937012	76940085	76938862	76938862	Missense_Mutation	A	C	p.L629R
HLFA_FIBROBLAST	76937012	76940085	76938874	76938874	Missense_Mutation	T	C	p.E625G
COLO783_SKIN	76937012	76940085	76938965	76938965	Missense_Mutation	G	A	p.L595F
CW2_LARGE_INTESTINE	76937012	76940085	76938973	76938973	Missense_Mutation	G	T	p.P592H
SH10TC_STOMACH	76937012	76940085	76938976	76938976	Missense_Mutation	G	A	p.T591I
HCC2108_LUNG	76937012	76940085	76939005	76939005	Missense_Mutation	T	A	p.K581N
MORCPR_LUNG	76937012	76940085	76939005	76939005	Missense_Mutation	T	A	p.K581N
U87MG_CENTRAL_NERVOUS_SYSTEM	76937012	76940085	76939057	76939057	Missense_Mutation	T	C	p.N564S
EW11_BONE	76937012	76940085	76939099	76939099	Missense_Mutation	C	G	p.S550T
YD15_SALIVARY_GLAND	76937012	76940085	76939133	76939133	Missense_Mutation	G	C	p.Q539E
CAL27_UPPER_AERODIGESTIVE_TRACT	76937012	76940085	76939219	76939219	Missense_Mutation	G	A	p.S510F
NBTU110_AUTONOMIC_GANGLIA	76937012	76940085	76939256	76939256	Missense_Mutation	T	C	p.R498G
SKN3_UPPER_AERODIGESTIVE_TRACT	76937012	76940085	76939256	76939256	Missense_Mutation	T	C	p.R498G
HT55_LARGE_INTESTINE	76937012	76940085	76939456	76939456	Missense_Mutation	T	A	p.E431V
MG63_BONE	76937012	76940085	76939513	76939513	Missense_Mutation	T	C	p.D412G
HEC6_ENDOMETRIUM	76937012	76940085	76939613	76939613	Missense_Mutation	C	A	p.D379Y
NCIH841_LUNG	76937012	76940085	76939650	76939650	Missense_Mutation	C	A	p.M366I
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76937012	76940085	76939742	76939742	Missense_Mutation	A	G	p.S336P
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76937012	76940085	76939801	76939801	Missense_Mutation	G	A	p.S316F
JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76937012	76940085	76940012	76940012	Missense_Mutation	G	A	p.R246C
BICR18_UPPER_AERODIGESTIVE_TRACT	76949313	76949426	76949332	76949332	Missense_Mutation	T	G	p.E155D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76949313	76949426	76949332	76949332	Missense_Mutation	T	G	p.E155D
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76949313	76949426	76949332	76949332	Missense_Mutation	T	G	p.E155D
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76949313	76949426	76949332	76949332	Missense_Mutation	T	G	p.E155D
BICR18_UPPER_AERODIGESTIVE_TRACT	76949313	76949426	76949337	76949337	Missense_Mutation	T	C	p.T154A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76949313	76949426	76949337	76949337	Missense_Mutation	T	C	p.T154A
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76949313	76949426	76949337	76949337	Missense_Mutation	T	C	p.T154A
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	76949313	76949426	76949337	76949337	Missense_Mutation	T	C	p.T154A
UMUC6_URINARY_TRACT	76949313	76949426	76949415	76949415	Missense_Mutation	C	T	p.V128I
59M_OVARY	76776881	76776976	76776888	76776888	Nonsense_Mutation	G	T	p.S2355*
EW18_BONE	76855201	76855289	76855222	76855222	Nonsense_Mutation	A	C	p.L1922*

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

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 ATRX

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

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RelatedDrugs for ATRX

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 ATRX

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ATRX	C1845055	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	11	CTD_human;ORPHANET;UNIPROT
ATRX	C0796003	Juberg-Marsidi syndrome	5	CTD_human;ORPHANET;UNIPROT
ATRX	C0017638	Glioma	2	CTD_human
ATRX	C0027819	Neuroblastoma	2	CTD_human
ATRX	C0010417	Cryptorchidism	1	CTD_human;HPO
ATRX	C0010606	Adenoid Cystic Carcinoma	1	CTD_human
ATRX	C0018273	Growth Disorders	1	CTD_human
ATRX	C0030297	Pancreatic Neoplasm	1	CTD_human
ATRX	C0030846	Penile Diseases	1	CTD_human
ATRX	C0039978	Thoracic Diseases	1	CTD_human
ATRX	C0206754	Neuroendocrine Tumors	1	CTD_human
ATRX	C0376634	Craniofacial Abnormalities	1	CTD_human
ATRX	C1136249	Mental Retardation, X-Linked	1	CTD_human
ATRX	C3463824	MYELODYSPLASTIC SYNDROME	1	CTD_human;HPO

	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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