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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:VPS13B-CDH17 (FusionGDB2 ID:98266)

Fusion Gene Summary for VPS13B-CDH17

Fusion gene summary

Fusion gene information	Fusion gene name: VPS13B-CDH17
	Fusion gene ID: 98266
		Hgene	Tgene
	Gene symbol	VPS13B	CDH17
	Gene ID	157680	1015
	Gene name	vacuolar protein sorting 13 homolog B	cadherin 17
	Synonyms	CHS1\|COH1	CDH16\|HPT-1\|HPT1
	Cytomap	8q22.2	8q22.1
	Type of gene	protein-coding	protein-coding
	Description	vacuolar protein sorting-associated protein 13B	cadherin-17HPT-1 cadherinLI cadherincadherin 17, LI cadherin (liver-intestine)cadherin-16human intestinal peptide-associated transporter HPT-1human peptide transporter 1intestinal peptide-associated transporter HPT-1liver-intestine cadherin
	Modification date	20200313	20200313
	UniProtAcc	.	Q12864
	Ensembl transtripts involved in fusion gene	ENST00000355155, ENST00000357162, ENST00000358544, ENST00000395996, ENST00000441350, ENST00000521932,	ENST00000027335, ENST00000441892, ENST00000450165,
Fusion gene scores	* DoF score	43 X 36 X 17=26316	6 X 6 X 3=108
	# samples	50	6
	** MAII score	log2(50/26316*10)=-5.71786831273266 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: VPS13B [Title/Abstract] AND CDH17 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	VPS13B(100050794)-CDH17(95189949), # samples:2
Anticipated loss of major functional domain due to fusion event.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

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

Partner

Gene

GO ID

GO term

PubMed ID

Fusion gene breakpoints across VPS13B (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across CDH17 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	SKCM	TCGA-FR-A7U9-06A	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-

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Fusion Gene ORF analysis for VPS13B-CDH17

Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
In-frame	ENST00000355155	ENST00000027335	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-
In-frame	ENST00000355155	ENST00000441892	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-
In-frame	ENST00000355155	ENST00000450165	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-
In-frame	ENST00000357162	ENST00000027335	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-
In-frame	ENST00000357162	ENST00000441892	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-
In-frame	ENST00000357162	ENST00000450165	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-
In-frame	ENST00000358544	ENST00000027335	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-
In-frame	ENST00000358544	ENST00000441892	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-
In-frame	ENST00000358544	ENST00000450165	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-
In-frame	ENST00000395996	ENST00000027335	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-
In-frame	ENST00000395996	ENST00000441892	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-
In-frame	ENST00000395996	ENST00000450165	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-
In-frame	ENST00000441350	ENST00000027335	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-
In-frame	ENST00000441350	ENST00000441892	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-
In-frame	ENST00000441350	ENST00000450165	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-
intron-3CDS	ENST00000521932	ENST00000027335	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-
intron-3CDS	ENST00000521932	ENST00000441892	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-
intron-3CDS	ENST00000521932	ENST00000450165	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000395996	VPS13B	chr8	100050794	+	ENST00000027335	CDH17	chr8	95189949	-	3820	402	111	2750	879
ENST00000395996	VPS13B	chr8	100050794	+	ENST00000441892	CDH17	chr8	95189949	-	2363	402	111	1994	627
ENST00000395996	VPS13B	chr8	100050794	+	ENST00000450165	CDH17	chr8	95189949	-	2751	402	111	2750	879
ENST00000358544	VPS13B	chr8	100050794	+	ENST00000027335	CDH17	chr8	95189949	-	3820	402	111	2750	879
ENST00000358544	VPS13B	chr8	100050794	+	ENST00000441892	CDH17	chr8	95189949	-	2363	402	111	1994	627
ENST00000358544	VPS13B	chr8	100050794	+	ENST00000450165	CDH17	chr8	95189949	-	2751	402	111	2750	879
ENST00000357162	VPS13B	chr8	100050794	+	ENST00000027335	CDH17	chr8	95189949	-	3820	402	111	2750	879
ENST00000357162	VPS13B	chr8	100050794	+	ENST00000441892	CDH17	chr8	95189949	-	2363	402	111	1994	627
ENST00000357162	VPS13B	chr8	100050794	+	ENST00000450165	CDH17	chr8	95189949	-	2751	402	111	2750	879
ENST00000355155	VPS13B	chr8	100050794	+	ENST00000027335	CDH17	chr8	95189949	-	3820	402	111	2750	879
ENST00000355155	VPS13B	chr8	100050794	+	ENST00000441892	CDH17	chr8	95189949	-	2363	402	111	1994	627
ENST00000355155	VPS13B	chr8	100050794	+	ENST00000450165	CDH17	chr8	95189949	-	2751	402	111	2750	879
ENST00000441350	VPS13B	chr8	100050794	+	ENST00000027335	CDH17	chr8	95189949	-	3812	394	103	2742	879
ENST00000441350	VPS13B	chr8	100050794	+	ENST00000441892	CDH17	chr8	95189949	-	2355	394	103	1986	627
ENST00000441350	VPS13B	chr8	100050794	+	ENST00000450165	CDH17	chr8	95189949	-	2743	394	103	2742	880

DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000395996	ENST00000027335	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-	0.000385919	0.99961406
ENST00000395996	ENST00000441892	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-	0.000694605	0.99930537
ENST00000395996	ENST00000450165	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-	0.000507953	0.99949205
ENST00000358544	ENST00000027335	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-	0.000385919	0.99961406
ENST00000358544	ENST00000441892	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-	0.000694605	0.99930537
ENST00000358544	ENST00000450165	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-	0.000507953	0.99949205
ENST00000357162	ENST00000027335	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-	0.000385919	0.99961406
ENST00000357162	ENST00000441892	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-	0.000694605	0.99930537
ENST00000357162	ENST00000450165	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-	0.000507953	0.99949205
ENST00000355155	ENST00000027335	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-	0.000385919	0.99961406
ENST00000355155	ENST00000441892	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-	0.000694605	0.99930537
ENST00000355155	ENST00000450165	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-	0.000507953	0.99949205
ENST00000441350	ENST00000027335	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-	0.000395088	0.9996049
ENST00000441350	ENST00000441892	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-	0.000722005	0.999278
ENST00000441350	ENST00000450165	VPS13B	chr8	100050794	+	CDH17	chr8	95189949	-	0.000524987	0.99947506

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Fusion Genomic Features for VPS13B-CDH17

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for VPS13B-CDH17

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr8:100050794/chr8:95189949)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	CDH17 Q12864
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.	FUNCTION: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. LI-cadherin may have a role in the morphological organization of liver and intestine. Involved in intestinal peptide transport. {ECO:0000269\|PubMed:8153632}.

Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page

* Minus value of BPloci means that the break pointn is located before the CDS.

- In-frame and retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000027335

129_244

833.0

Domain

Cadherin 2

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000027335

245_340

833.0

Domain

Cadherin 3

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000027335

341_449

833.0

Domain

Cadherin 4

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000027335

450_566

833.0

Domain

Cadherin 5

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000027335

567_667

833.0

Domain

Cadherin 6

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000027335

668_777

833.0

Domain

Cadherin 7

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000450165

129_244

833.0

Domain

Cadherin 2

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000450165

245_340

833.0

Domain

Cadherin 3

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000450165

341_449

833.0

Domain

Cadherin 4

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000450165

450_566

833.0

Domain

Cadherin 5

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000450165

567_667

833.0

Domain

Cadherin 6

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000450165

668_777

833.0

Domain

Cadherin 7

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000027335

809_832

833.0

Topological domain

Cytoplasmic

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000450165

809_832

833.0

Topological domain

Cytoplasmic

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000027335

788_808

833.0

Transmembrane

Helical

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000450165

788_808

833.0

Transmembrane

Helical

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000027335

30_128

833.0

Domain

Cadherin 1

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000450165

30_128

833.0

Domain

Cadherin 1

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000027335

23_787

833.0

Topological domain

Extracellular

Tgene

CDH17

chr8:100050794

chr8:95189949

ENST00000450165

23_787

833.0

Topological domain

Extracellular

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Fusion Gene Sequence for VPS13B-CDH17

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>98266_98266_1_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000355155_CDH17_chr8_95189949_ENST00000027335_length(transcript)=3820nt_BP=402nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGTTTAAGGCCAATCCTCCTGCTGTGACTTTTGAACTAACTGGGGAGACA
GACAACATATTTGTGATAGAACGGGAGGGACTTCTGTATTACAACAGAGCCTTGGACAGGGAAACAAGATCTACTCACAATCTCCAGGTT
GCAGCCCTGGACGCTAATGGAATTATAGTGGAGGGTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGACAATCGACCCACGTTT
CTCCAGTCAAAGTACGAAGGCTCAGTAAGGCAGAACTCTCGCCCAGGAAAGCCCTTCTTGTATGTCAATGCCACAGACCTGGATGATCCG
GCCACTCCCAATGGCCAGCTTTATTACCAGATTGTCATCCAGCTTCCCATGATCAACAATGTCATGTACTTTCAGATCAACAACAAAACG
GGAGCCATCTCTCTTACCCGAGAGGGATCTCAGGAATTGAATCCTGCTAAGAATCCTTCCTATAATCTGGTGATCTCAGTGAAGGACATG
GGAGGCCAGAGTGAGAATTCCTTCAGTGATACCACATCTGTGGATATCATAGTGACAGAGAATATTTGGAAAGCACCAAAACCTGTGGAG
ATGGTGGAAAACTCAACTGATCCTCACCCCATCAAAATCACTCAGGTGCGGTGGAATGATCCCGGTGCACAATATTCCTTAGTTGACAAA
GAGAAGCTGCCAAGATTCCCATTTTCAATTGACCAGGAAGGAGATATTTACGTGACTCAGCCCTTGGACCGAGAAGAAAAGGATGCATAT
GTTTTTTATGCAGTTGCAAAGGATGAGTACGGAAAACCACTTTCATATCCGCTGGAAATTCATGTAAAAGTTAAAGATATTAATGATAAT
CCACCTACATGTCCGTCACCAGTAACCGTATTTGAGGTCCAGGAGAATGAACGACTGGGTAACAGTATCGGGACCCTTACTGCACATGAC
AGGGATGAAGAAAATACTGCCAACAGTTTTCTAAACTACAGGATTGTGGAGCAAACTCCCAAACTTCCCATGGATGGACTCTTCCTAATC
CAAACCTATGCTGGAATGTTACAGTTAGCTAAACAGTCCTTGAAGAAGCAAGATACTCCTCAGTACAACTTAACGATAGAGGTGTCTGAC
AAAGATTTCAAGACCCTTTGTTTTGTGCAAATCAACGTTATTGATATCAATGATCAGATCCCCATCTTTGAAAAATCAGATTATGGAAAC
CTGACTCTTGCTGAAGACACAAACATTGGGTCCACCATCTTAACCATCCAGGCCACTGATGCTGATGAGCCATTTACTGGGAGTTCTAAA
ATTCTGTATCATATCATAAAGGGAGACAGTGAGGGACGCCTGGGGGTTGACACAGATCCCCATACCAACACCGGATATGTCATAATTAAA
AAGCCTCTTGATTTTGAAACAGCAGCTGTTTCCAACATTGTGTTCAAAGCAGAAAATCCTGAGCCTCTAGTGTTTGGTGTGAAGTACAAT
GCAAGTTCTTTTGCCAAGTTCACGCTTATTGTGACAGATGTGAATGAAGCACCTCAATTTTCCCAACACGTATTCCAAGCGAAAGTCAGT
GAGGATGTAGCTATAGGCACTAAAGTGGGCAATGTGACTGCCAAGGATCCAGAAGGTCTGGACATAAGCTATTCACTGAGGGGAGACACA
AGAGGTTGGCTTAAAATTGACCACGTGACTGGTGAGATCTTTAGTGTGGCTCCATTGGACAGAGAAGCCGGAAGTCCATATCGGGTACAA
GTGGTGGCCACAGAAGTAGGGGGGTCTTCCTTGAGCTCTGTGTCAGAGTTCCACCTGATCCTTATGGATGTGAATGACAACCCTCCCAGG
CTAGCCAAGGACTACACGGGCTTGTTCTTCTGCCATCCCCTCAGTGCACCTGGAAGTCTCATTTTCGAGGCTACTGATGATGATCAGCAC
TTATTTCGGGGTCCCCATTTTACATTTTCCCTCGGCAGTGGAAGCTTACAAAACGACTGGGAAGTTTCCAAAATCAATGGTACTCATGCC
CGACTGTCTACCAGGCACACAGAGTTTGAGGAGAGGGAGTATGTCGTCTTGATCCGCATCAATGATGGGGGTCGGCCACCCTTGGAAGGC
ATTGTTTCTTTACCAGTTACATTCTGCAGTTGTGTGGAAGGAAGTTGTTTCCGGCCAGCAGGTCACCAGACTGGGATACCCACTGTGGGC
ATGGCAGTTGGTATACTGCTGACCACCCTTCTGGTGATTGGTATAATTTTAGCAGTTGTGTTTATCCGCATAAAGAAGGATAAAGGCAAA
GATAATGTTGAAAGTGCTCAAGCATCTGAAGTCAAACCTCTGAGAAGCTGAATTTGAAAAGGAATGTTTGAATTTATATAGCAAGTGCTA
TTTCAGCAACAACCATCTCATCCTATTACTTTTCATCTAACGTGCATTATAATTTTTTAAACAGATATTCCCTCTTGTCCTTTAATATTT
GCTAAATATTTCTTTTTTGAGGTGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCCCAGCTCACTGCAACCTCCGCCT
CCTGGGTTCACATGATTCTCCTGCCTCAGCTTCCTAAGTAGCTGGGTTTACAGGCACCCACCACCATGCCCAGCTAATTTTTGTATTTTT
AATAGAGACGGGGTTTCGCCATTTGGCCAGGCTGGTCTTGAACTCCTGACGTCAAGTGATCTGCCTGCCTTGGTCTCCCAATACAGGCAT
GAACCACTGCACCCACCTACTTAGATATTTCATGTGCTATAGACATTAGAGAGATTTTTCATTTTTCCATGACATTTTTCCTCTCTGCAA
ATGGCTTAGCTACTTGTGTTTTTCCCTTTTGGGGCAAGACAGACTCATTAAATATTCTGTACATTTTTTCTTTATCAAGGAGATATATCA
GTGTTGTCTCATAGAACTGCCTGGATTCCATTTATGTTTTTTCTGATTCCATCCTGTGTCCCCTTCATCCTTGACTCCTTTGGTATTTCA
CTGAATTTCAAACATTTGTCAGAGAAGAAAAACGTGAGGACTCAGGAAAAATAAATAAATAAAAGAACAGCCTTTTCCCTTAGTATTAAC
AGAAATGTTTCTGTGTCATTAACCATCTTTAATCAATGTGACATGTTGCTCTTTGGCTGAAATTCTTCAACTTGGAAATGACACAGACCC
ACAGAAGGTGTTCAAACACAACCTACTCTGCAAACCTTGGTAAAGGAACCAGTCAGCTGGCCAGATTTCCTCACTACCTGCCATGCATAC
ATGCTGCGCATGTTTTCTTCATTCGTATGTTAGTAAAGTTTTGGTTATTATATATTTAACATGTGGAAGAAAACAAGACATGAAAAGAGT

>98266_98266_1_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000355155_CDH17_chr8_95189949_ENST00000027335_length(amino acids)=879AA_BP=88
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQFKANPPAVTFELTGETDNIFVIEREGLLYYNRALDRETRSTHNLQVAALDANGIIVEGPVPITIKVKDINDNRPTFLQSKYEG
SVRQNSRPGKPFLYVNATDLDDPATPNGQLYYQIVIQLPMINNVMYFQINNKTGAISLTREGSQELNPAKNPSYNLVISVKDMGGQSENS
FSDTTSVDIIVTENIWKAPKPVEMVENSTDPHPIKITQVRWNDPGAQYSLVDKEKLPRFPFSIDQEGDIYVTQPLDREEKDAYVFYAVAK
DEYGKPLSYPLEIHVKVKDINDNPPTCPSPVTVFEVQENERLGNSIGTLTAHDRDEENTANSFLNYRIVEQTPKLPMDGLFLIQTYAGML
QLAKQSLKKQDTPQYNLTIEVSDKDFKTLCFVQINVIDINDQIPIFEKSDYGNLTLAEDTNIGSTILTIQATDADEPFTGSSKILYHIIK
GDSEGRLGVDTDPHTNTGYVIIKKPLDFETAAVSNIVFKAENPEPLVFGVKYNASSFAKFTLIVTDVNEAPQFSQHVFQAKVSEDVAIGT
KVGNVTAKDPEGLDISYSLRGDTRGWLKIDHVTGEIFSVAPLDREAGSPYRVQVVATEVGGSSLSSVSEFHLILMDVNDNPPRLAKDYTG
LFFCHPLSAPGSLIFEATDDDQHLFRGPHFTFSLGSGSLQNDWEVSKINGTHARLSTRHTEFEEREYVVLIRINDGGRPPLEGIVSLPVT

--------------------------------------------------------------
>98266_98266_2_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000355155_CDH17_chr8_95189949_ENST00000441892_length(transcript)=2363nt_BP=402nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGTTTAAGGCCAATCCTCCTGCTGTGACTTTTGAACTAACTGGGGAGACA
GACAACATATTTGTGATAGAACGGGAGGGACTTCTGTATTACAACAGAGCCTTGGACAGGGAAACAAGATCTACTCACAATCTCCAGGTT
GCAGCCCTGGACGCTAATGGAATTATAGTGGAGGGTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGACAATCGACCCACGTTT
CTCCAGTCAAAGTACGAAGGCTCAGTAAGGCAGAACTCTCGCCCAGGTAACAGTATCGGGACCCTTACTGCACATGACAGGGATGAAGAA
AATACTGCCAACAGTTTTCTAAACTACAGGATTGTGGAGCAAACTCCCAAACTTCCCATGGATGGACTCTTCCTAATCCAAACCTATGCT
GGAATGTTACAGTTAGCTAAACAGTCCTTGAAGAAGCAAGATACTCCTCAGTACAACTTAACGATAGAGGTGTCTGACAAAGATTTCAAG
ACCCTTTGTTTTGTGCAAATCAACGTTATTGATATCAATGATCAGATCCCCATCTTTGAAAAATCAGATTATGGAAACCTGACTCTTGCT
GAAGACACAAACATTGGGTCCACCATCTTAACCATCCAGGCCACTGATGCTGATGAGCCATTTACTGGGAGTTCTAAAATTCTGTATCAT
ATCATAAAGGGAGACAGTGAGGGACGCCTGGGGGTTGACACAGATCCCCATACCAACACCGGATATGTCATAATTAAAAAGCCTCTTGAT
TTTGAAACAGCAGCTGTTTCCAACATTGTGTTCAAAGCAGAAAATCCTGAGCCTCTAGTGTTTGGTGTGAAGTACAATGCAAGTTCTTTT
GCCAAGTTCACGCTTATTGTGACAGATGTGAATGAAGCACCTCAATTTTCCCAACACGTATTCCAAGCGAAAGTCAGTGAGGATGTAGCT
ATAGGCACTAAAGTGGGCAATGTGACTGCCAAGGATCCAGAAGGTCTGGACATAAGCTATTCACTGAGGGGAGACACAAGAGGTTGGCTT
AAAATTGACCACGTGACTGGTGAGATCTTTAGTGTGGCTCCATTGGACAGAGAAGCCGGAAGTCCATATCGGGTACAAGTGGTGGCCACA
GAAGTAGGGGGGTCTTCCTTGAGCTCTGTGTCAGAGTTCCACCTGATCCTTATGGATGTGAATGACAACCCTCCCAGGCTAGCCAAGGAC
TACACGGGCTTGTTCTTCTGCCATCCCCTCAGTGCACCTGGAAGTCTCATTTTCGAGGCTACTGATGATGATCAGCACTTATTTCGGGGT
CCCCATTTTACATTTTCCCTCGGCAGTGGAAGCTTACAAAACGACTGGGAAGTTTCCAAAATCAATGGTACTCATGCCCGACTGTCTACC
AGGCACACAGAGTTTGAGGAGAGGGAGTATGTCGTCTTGATCCGCATCAATGATGGGGGTCGGCCACCCTTGGAAGGCATTGTTTCTTTA
CCAGGTATAATTTTAGCAGTTGTGTTTATCCGCATAAAGAAGGATAAAGGCAAAGATAATGTTGAAAGTGCTCAAGCATCTGAAGTCAAA
CCTCTGAGAAGCTGAATTTGAAAAGGAATGTTTGAATTTATATAGCAAGTGCTATTTCAGCAACAACCATCTCATCCTATTACTTTTCAT
CTAACGTGCATTATAATTTTTTAAACAGATATTCCCTCTTGTCCTTTAATATTTGCTAAATATTTCTTTTTTGAGGTGGAGTCTTGCTCT
GTCGCCCAGGCTGGAGTACAGTGGTGTGATCCCAGCTCACTGCAACCTCCGCCTCCTGGGTTCACATGATTCTCCTGCCTCAGCTTCCTA
AGTAGCTGGGTTTACAGGCACCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCGCCATTTGGCCAGGCTGGT

>98266_98266_2_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000355155_CDH17_chr8_95189949_ENST00000441892_length(amino acids)=627AA_BP=88
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQFKANPPAVTFELTGETDNIFVIEREGLLYYNRALDRETRSTHNLQVAALDANGIIVEGPVPITIKVKDINDNRPTFLQSKYEG
SVRQNSRPGNSIGTLTAHDRDEENTANSFLNYRIVEQTPKLPMDGLFLIQTYAGMLQLAKQSLKKQDTPQYNLTIEVSDKDFKTLCFVQI
NVIDINDQIPIFEKSDYGNLTLAEDTNIGSTILTIQATDADEPFTGSSKILYHIIKGDSEGRLGVDTDPHTNTGYVIIKKPLDFETAAVS
NIVFKAENPEPLVFGVKYNASSFAKFTLIVTDVNEAPQFSQHVFQAKVSEDVAIGTKVGNVTAKDPEGLDISYSLRGDTRGWLKIDHVTG
EIFSVAPLDREAGSPYRVQVVATEVGGSSLSSVSEFHLILMDVNDNPPRLAKDYTGLFFCHPLSAPGSLIFEATDDDQHLFRGPHFTFSL

--------------------------------------------------------------
>98266_98266_3_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000355155_CDH17_chr8_95189949_ENST00000450165_length(transcript)=2751nt_BP=402nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGTTTAAGGCCAATCCTCCTGCTGTGACTTTTGAACTAACTGGGGAGACA
GACAACATATTTGTGATAGAACGGGAGGGACTTCTGTATTACAACAGAGCCTTGGACAGGGAAACAAGATCTACTCACAATCTCCAGGTT
GCAGCCCTGGACGCTAATGGAATTATAGTGGAGGGTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGACAATCGACCCACGTTT
CTCCAGTCAAAGTACGAAGGCTCAGTAAGGCAGAACTCTCGCCCAGGAAAGCCCTTCTTGTATGTCAATGCCACAGACCTGGATGATCCG
GCCACTCCCAATGGCCAGCTTTATTACCAGATTGTCATCCAGCTTCCCATGATCAACAATGTCATGTACTTTCAGATCAACAACAAAACG
GGAGCCATCTCTCTTACCCGAGAGGGATCTCAGGAATTGAATCCTGCTAAGAATCCTTCCTATAATCTGGTGATCTCAGTGAAGGACATG
GGAGGCCAGAGTGAGAATTCCTTCAGTGATACCACATCTGTGGATATCATAGTGACAGAGAATATTTGGAAAGCACCAAAACCTGTGGAG
ATGGTGGAAAACTCAACTGATCCTCACCCCATCAAAATCACTCAGGTGCGGTGGAATGATCCCGGTGCACAATATTCCTTAGTTGACAAA
GAGAAGCTGCCAAGATTCCCATTTTCAATTGACCAGGAAGGAGATATTTACGTGACTCAGCCCTTGGACCGAGAAGAAAAGGATGCATAT
GTTTTTTATGCAGTTGCAAAGGATGAGTACGGAAAACCACTTTCATATCCGCTGGAAATTCATGTAAAAGTTAAAGATATTAATGATAAT
CCACCTACATGTCCGTCACCAGTAACCGTATTTGAGGTCCAGGAGAATGAACGACTGGGTAACAGTATCGGGACCCTTACTGCACATGAC
AGGGATGAAGAAAATACTGCCAACAGTTTTCTAAACTACAGGATTGTGGAGCAAACTCCCAAACTTCCCATGGATGGACTCTTCCTAATC
CAAACCTATGCTGGAATGTTACAGTTAGCTAAACAGTCCTTGAAGAAGCAAGATACTCCTCAGTACAACTTAACGATAGAGGTGTCTGAC
AAAGATTTCAAGACCCTTTGTTTTGTGCAAATCAACGTTATTGATATCAATGATCAGATCCCCATCTTTGAAAAATCAGATTATGGAAAC
CTGACTCTTGCTGAAGACACAAACATTGGGTCCACCATCTTAACCATCCAGGCCACTGATGCTGATGAGCCATTTACTGGGAGTTCTAAA
ATTCTGTATCATATCATAAAGGGAGACAGTGAGGGACGCCTGGGGGTTGACACAGATCCCCATACCAACACCGGATATGTCATAATTAAA
AAGCCTCTTGATTTTGAAACAGCAGCTGTTTCCAACATTGTGTTCAAAGCAGAAAATCCTGAGCCTCTAGTGTTTGGTGTGAAGTACAAT
GCAAGTTCTTTTGCCAAGTTCACGCTTATTGTGACAGATGTGAATGAAGCACCTCAATTTTCCCAACACGTATTCCAAGCGAAAGTCAGT
GAGGATGTAGCTATAGGCACTAAAGTGGGCAATGTGACTGCCAAGGATCCAGAAGGTCTGGACATAAGCTATTCACTGAGGGGAGACACA
AGAGGTTGGCTTAAAATTGACCACGTGACTGGTGAGATCTTTAGTGTGGCTCCATTGGACAGAGAAGCCGGAAGTCCATATCGGGTACAA
GTGGTGGCCACAGAAGTAGGGGGGTCTTCCTTGAGCTCTGTGTCAGAGTTCCACCTGATCCTTATGGATGTGAATGACAACCCTCCCAGG
CTAGCCAAGGACTACACGGGCTTGTTCTTCTGCCATCCCCTCAGTGCACCTGGAAGTCTCATTTTCGAGGCTACTGATGATGATCAGCAC
TTATTTCGGGGTCCCCATTTTACATTTTCCCTCGGCAGTGGAAGCTTACAAAACGACTGGGAAGTTTCCAAAATCAATGGTACTCATGCC
CGACTGTCTACCAGGCACACAGAGTTTGAGGAGAGGGAGTATGTCGTCTTGATCCGCATCAATGATGGGGGTCGGCCACCCTTGGAAGGC
ATTGTTTCTTTACCAGTTACATTCTGCAGTTGTGTGGAAGGAAGTTGTTTCCGGCCAGCAGGTCACCAGACTGGGATACCCACTGTGGGC
ATGGCAGTTGGTATACTGCTGACCACCCTTCTGGTGATTGGTATAATTTTAGCAGTTGTGTTTATCCGCATAAAGAAGGATAAAGGCAAA

>98266_98266_3_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000355155_CDH17_chr8_95189949_ENST00000450165_length(amino acids)=879AA_BP=88
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQFKANPPAVTFELTGETDNIFVIEREGLLYYNRALDRETRSTHNLQVAALDANGIIVEGPVPITIKVKDINDNRPTFLQSKYEG
SVRQNSRPGKPFLYVNATDLDDPATPNGQLYYQIVIQLPMINNVMYFQINNKTGAISLTREGSQELNPAKNPSYNLVISVKDMGGQSENS
FSDTTSVDIIVTENIWKAPKPVEMVENSTDPHPIKITQVRWNDPGAQYSLVDKEKLPRFPFSIDQEGDIYVTQPLDREEKDAYVFYAVAK
DEYGKPLSYPLEIHVKVKDINDNPPTCPSPVTVFEVQENERLGNSIGTLTAHDRDEENTANSFLNYRIVEQTPKLPMDGLFLIQTYAGML
QLAKQSLKKQDTPQYNLTIEVSDKDFKTLCFVQINVIDINDQIPIFEKSDYGNLTLAEDTNIGSTILTIQATDADEPFTGSSKILYHIIK
GDSEGRLGVDTDPHTNTGYVIIKKPLDFETAAVSNIVFKAENPEPLVFGVKYNASSFAKFTLIVTDVNEAPQFSQHVFQAKVSEDVAIGT
KVGNVTAKDPEGLDISYSLRGDTRGWLKIDHVTGEIFSVAPLDREAGSPYRVQVVATEVGGSSLSSVSEFHLILMDVNDNPPRLAKDYTG
LFFCHPLSAPGSLIFEATDDDQHLFRGPHFTFSLGSGSLQNDWEVSKINGTHARLSTRHTEFEEREYVVLIRINDGGRPPLEGIVSLPVT

--------------------------------------------------------------
>98266_98266_4_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000357162_CDH17_chr8_95189949_ENST00000027335_length(transcript)=3820nt_BP=402nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGTTTAAGGCCAATCCTCCTGCTGTGACTTTTGAACTAACTGGGGAGACA
GACAACATATTTGTGATAGAACGGGAGGGACTTCTGTATTACAACAGAGCCTTGGACAGGGAAACAAGATCTACTCACAATCTCCAGGTT
GCAGCCCTGGACGCTAATGGAATTATAGTGGAGGGTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGACAATCGACCCACGTTT
CTCCAGTCAAAGTACGAAGGCTCAGTAAGGCAGAACTCTCGCCCAGGAAAGCCCTTCTTGTATGTCAATGCCACAGACCTGGATGATCCG
GCCACTCCCAATGGCCAGCTTTATTACCAGATTGTCATCCAGCTTCCCATGATCAACAATGTCATGTACTTTCAGATCAACAACAAAACG
GGAGCCATCTCTCTTACCCGAGAGGGATCTCAGGAATTGAATCCTGCTAAGAATCCTTCCTATAATCTGGTGATCTCAGTGAAGGACATG
GGAGGCCAGAGTGAGAATTCCTTCAGTGATACCACATCTGTGGATATCATAGTGACAGAGAATATTTGGAAAGCACCAAAACCTGTGGAG
ATGGTGGAAAACTCAACTGATCCTCACCCCATCAAAATCACTCAGGTGCGGTGGAATGATCCCGGTGCACAATATTCCTTAGTTGACAAA
GAGAAGCTGCCAAGATTCCCATTTTCAATTGACCAGGAAGGAGATATTTACGTGACTCAGCCCTTGGACCGAGAAGAAAAGGATGCATAT
GTTTTTTATGCAGTTGCAAAGGATGAGTACGGAAAACCACTTTCATATCCGCTGGAAATTCATGTAAAAGTTAAAGATATTAATGATAAT
CCACCTACATGTCCGTCACCAGTAACCGTATTTGAGGTCCAGGAGAATGAACGACTGGGTAACAGTATCGGGACCCTTACTGCACATGAC
AGGGATGAAGAAAATACTGCCAACAGTTTTCTAAACTACAGGATTGTGGAGCAAACTCCCAAACTTCCCATGGATGGACTCTTCCTAATC
CAAACCTATGCTGGAATGTTACAGTTAGCTAAACAGTCCTTGAAGAAGCAAGATACTCCTCAGTACAACTTAACGATAGAGGTGTCTGAC
AAAGATTTCAAGACCCTTTGTTTTGTGCAAATCAACGTTATTGATATCAATGATCAGATCCCCATCTTTGAAAAATCAGATTATGGAAAC
CTGACTCTTGCTGAAGACACAAACATTGGGTCCACCATCTTAACCATCCAGGCCACTGATGCTGATGAGCCATTTACTGGGAGTTCTAAA
ATTCTGTATCATATCATAAAGGGAGACAGTGAGGGACGCCTGGGGGTTGACACAGATCCCCATACCAACACCGGATATGTCATAATTAAA
AAGCCTCTTGATTTTGAAACAGCAGCTGTTTCCAACATTGTGTTCAAAGCAGAAAATCCTGAGCCTCTAGTGTTTGGTGTGAAGTACAAT
GCAAGTTCTTTTGCCAAGTTCACGCTTATTGTGACAGATGTGAATGAAGCACCTCAATTTTCCCAACACGTATTCCAAGCGAAAGTCAGT
GAGGATGTAGCTATAGGCACTAAAGTGGGCAATGTGACTGCCAAGGATCCAGAAGGTCTGGACATAAGCTATTCACTGAGGGGAGACACA
AGAGGTTGGCTTAAAATTGACCACGTGACTGGTGAGATCTTTAGTGTGGCTCCATTGGACAGAGAAGCCGGAAGTCCATATCGGGTACAA
GTGGTGGCCACAGAAGTAGGGGGGTCTTCCTTGAGCTCTGTGTCAGAGTTCCACCTGATCCTTATGGATGTGAATGACAACCCTCCCAGG
CTAGCCAAGGACTACACGGGCTTGTTCTTCTGCCATCCCCTCAGTGCACCTGGAAGTCTCATTTTCGAGGCTACTGATGATGATCAGCAC
TTATTTCGGGGTCCCCATTTTACATTTTCCCTCGGCAGTGGAAGCTTACAAAACGACTGGGAAGTTTCCAAAATCAATGGTACTCATGCC
CGACTGTCTACCAGGCACACAGAGTTTGAGGAGAGGGAGTATGTCGTCTTGATCCGCATCAATGATGGGGGTCGGCCACCCTTGGAAGGC
ATTGTTTCTTTACCAGTTACATTCTGCAGTTGTGTGGAAGGAAGTTGTTTCCGGCCAGCAGGTCACCAGACTGGGATACCCACTGTGGGC
ATGGCAGTTGGTATACTGCTGACCACCCTTCTGGTGATTGGTATAATTTTAGCAGTTGTGTTTATCCGCATAAAGAAGGATAAAGGCAAA
GATAATGTTGAAAGTGCTCAAGCATCTGAAGTCAAACCTCTGAGAAGCTGAATTTGAAAAGGAATGTTTGAATTTATATAGCAAGTGCTA
TTTCAGCAACAACCATCTCATCCTATTACTTTTCATCTAACGTGCATTATAATTTTTTAAACAGATATTCCCTCTTGTCCTTTAATATTT
GCTAAATATTTCTTTTTTGAGGTGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCCCAGCTCACTGCAACCTCCGCCT
CCTGGGTTCACATGATTCTCCTGCCTCAGCTTCCTAAGTAGCTGGGTTTACAGGCACCCACCACCATGCCCAGCTAATTTTTGTATTTTT
AATAGAGACGGGGTTTCGCCATTTGGCCAGGCTGGTCTTGAACTCCTGACGTCAAGTGATCTGCCTGCCTTGGTCTCCCAATACAGGCAT
GAACCACTGCACCCACCTACTTAGATATTTCATGTGCTATAGACATTAGAGAGATTTTTCATTTTTCCATGACATTTTTCCTCTCTGCAA
ATGGCTTAGCTACTTGTGTTTTTCCCTTTTGGGGCAAGACAGACTCATTAAATATTCTGTACATTTTTTCTTTATCAAGGAGATATATCA
GTGTTGTCTCATAGAACTGCCTGGATTCCATTTATGTTTTTTCTGATTCCATCCTGTGTCCCCTTCATCCTTGACTCCTTTGGTATTTCA
CTGAATTTCAAACATTTGTCAGAGAAGAAAAACGTGAGGACTCAGGAAAAATAAATAAATAAAAGAACAGCCTTTTCCCTTAGTATTAAC
AGAAATGTTTCTGTGTCATTAACCATCTTTAATCAATGTGACATGTTGCTCTTTGGCTGAAATTCTTCAACTTGGAAATGACACAGACCC
ACAGAAGGTGTTCAAACACAACCTACTCTGCAAACCTTGGTAAAGGAACCAGTCAGCTGGCCAGATTTCCTCACTACCTGCCATGCATAC
ATGCTGCGCATGTTTTCTTCATTCGTATGTTAGTAAAGTTTTGGTTATTATATATTTAACATGTGGAAGAAAACAAGACATGAAAAGAGT

>98266_98266_4_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000357162_CDH17_chr8_95189949_ENST00000027335_length(amino acids)=879AA_BP=88
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQFKANPPAVTFELTGETDNIFVIEREGLLYYNRALDRETRSTHNLQVAALDANGIIVEGPVPITIKVKDINDNRPTFLQSKYEG
SVRQNSRPGKPFLYVNATDLDDPATPNGQLYYQIVIQLPMINNVMYFQINNKTGAISLTREGSQELNPAKNPSYNLVISVKDMGGQSENS
FSDTTSVDIIVTENIWKAPKPVEMVENSTDPHPIKITQVRWNDPGAQYSLVDKEKLPRFPFSIDQEGDIYVTQPLDREEKDAYVFYAVAK
DEYGKPLSYPLEIHVKVKDINDNPPTCPSPVTVFEVQENERLGNSIGTLTAHDRDEENTANSFLNYRIVEQTPKLPMDGLFLIQTYAGML
QLAKQSLKKQDTPQYNLTIEVSDKDFKTLCFVQINVIDINDQIPIFEKSDYGNLTLAEDTNIGSTILTIQATDADEPFTGSSKILYHIIK
GDSEGRLGVDTDPHTNTGYVIIKKPLDFETAAVSNIVFKAENPEPLVFGVKYNASSFAKFTLIVTDVNEAPQFSQHVFQAKVSEDVAIGT
KVGNVTAKDPEGLDISYSLRGDTRGWLKIDHVTGEIFSVAPLDREAGSPYRVQVVATEVGGSSLSSVSEFHLILMDVNDNPPRLAKDYTG
LFFCHPLSAPGSLIFEATDDDQHLFRGPHFTFSLGSGSLQNDWEVSKINGTHARLSTRHTEFEEREYVVLIRINDGGRPPLEGIVSLPVT

--------------------------------------------------------------
>98266_98266_5_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000357162_CDH17_chr8_95189949_ENST00000441892_length(transcript)=2363nt_BP=402nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGTTTAAGGCCAATCCTCCTGCTGTGACTTTTGAACTAACTGGGGAGACA
GACAACATATTTGTGATAGAACGGGAGGGACTTCTGTATTACAACAGAGCCTTGGACAGGGAAACAAGATCTACTCACAATCTCCAGGTT
GCAGCCCTGGACGCTAATGGAATTATAGTGGAGGGTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGACAATCGACCCACGTTT
CTCCAGTCAAAGTACGAAGGCTCAGTAAGGCAGAACTCTCGCCCAGGTAACAGTATCGGGACCCTTACTGCACATGACAGGGATGAAGAA
AATACTGCCAACAGTTTTCTAAACTACAGGATTGTGGAGCAAACTCCCAAACTTCCCATGGATGGACTCTTCCTAATCCAAACCTATGCT
GGAATGTTACAGTTAGCTAAACAGTCCTTGAAGAAGCAAGATACTCCTCAGTACAACTTAACGATAGAGGTGTCTGACAAAGATTTCAAG
ACCCTTTGTTTTGTGCAAATCAACGTTATTGATATCAATGATCAGATCCCCATCTTTGAAAAATCAGATTATGGAAACCTGACTCTTGCT
GAAGACACAAACATTGGGTCCACCATCTTAACCATCCAGGCCACTGATGCTGATGAGCCATTTACTGGGAGTTCTAAAATTCTGTATCAT
ATCATAAAGGGAGACAGTGAGGGACGCCTGGGGGTTGACACAGATCCCCATACCAACACCGGATATGTCATAATTAAAAAGCCTCTTGAT
TTTGAAACAGCAGCTGTTTCCAACATTGTGTTCAAAGCAGAAAATCCTGAGCCTCTAGTGTTTGGTGTGAAGTACAATGCAAGTTCTTTT
GCCAAGTTCACGCTTATTGTGACAGATGTGAATGAAGCACCTCAATTTTCCCAACACGTATTCCAAGCGAAAGTCAGTGAGGATGTAGCT
ATAGGCACTAAAGTGGGCAATGTGACTGCCAAGGATCCAGAAGGTCTGGACATAAGCTATTCACTGAGGGGAGACACAAGAGGTTGGCTT
AAAATTGACCACGTGACTGGTGAGATCTTTAGTGTGGCTCCATTGGACAGAGAAGCCGGAAGTCCATATCGGGTACAAGTGGTGGCCACA
GAAGTAGGGGGGTCTTCCTTGAGCTCTGTGTCAGAGTTCCACCTGATCCTTATGGATGTGAATGACAACCCTCCCAGGCTAGCCAAGGAC
TACACGGGCTTGTTCTTCTGCCATCCCCTCAGTGCACCTGGAAGTCTCATTTTCGAGGCTACTGATGATGATCAGCACTTATTTCGGGGT
CCCCATTTTACATTTTCCCTCGGCAGTGGAAGCTTACAAAACGACTGGGAAGTTTCCAAAATCAATGGTACTCATGCCCGACTGTCTACC
AGGCACACAGAGTTTGAGGAGAGGGAGTATGTCGTCTTGATCCGCATCAATGATGGGGGTCGGCCACCCTTGGAAGGCATTGTTTCTTTA
CCAGGTATAATTTTAGCAGTTGTGTTTATCCGCATAAAGAAGGATAAAGGCAAAGATAATGTTGAAAGTGCTCAAGCATCTGAAGTCAAA
CCTCTGAGAAGCTGAATTTGAAAAGGAATGTTTGAATTTATATAGCAAGTGCTATTTCAGCAACAACCATCTCATCCTATTACTTTTCAT
CTAACGTGCATTATAATTTTTTAAACAGATATTCCCTCTTGTCCTTTAATATTTGCTAAATATTTCTTTTTTGAGGTGGAGTCTTGCTCT
GTCGCCCAGGCTGGAGTACAGTGGTGTGATCCCAGCTCACTGCAACCTCCGCCTCCTGGGTTCACATGATTCTCCTGCCTCAGCTTCCTA
AGTAGCTGGGTTTACAGGCACCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCGCCATTTGGCCAGGCTGGT

>98266_98266_5_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000357162_CDH17_chr8_95189949_ENST00000441892_length(amino acids)=627AA_BP=88
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQFKANPPAVTFELTGETDNIFVIEREGLLYYNRALDRETRSTHNLQVAALDANGIIVEGPVPITIKVKDINDNRPTFLQSKYEG
SVRQNSRPGNSIGTLTAHDRDEENTANSFLNYRIVEQTPKLPMDGLFLIQTYAGMLQLAKQSLKKQDTPQYNLTIEVSDKDFKTLCFVQI
NVIDINDQIPIFEKSDYGNLTLAEDTNIGSTILTIQATDADEPFTGSSKILYHIIKGDSEGRLGVDTDPHTNTGYVIIKKPLDFETAAVS
NIVFKAENPEPLVFGVKYNASSFAKFTLIVTDVNEAPQFSQHVFQAKVSEDVAIGTKVGNVTAKDPEGLDISYSLRGDTRGWLKIDHVTG
EIFSVAPLDREAGSPYRVQVVATEVGGSSLSSVSEFHLILMDVNDNPPRLAKDYTGLFFCHPLSAPGSLIFEATDDDQHLFRGPHFTFSL

--------------------------------------------------------------
>98266_98266_6_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000357162_CDH17_chr8_95189949_ENST00000450165_length(transcript)=2751nt_BP=402nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGTTTAAGGCCAATCCTCCTGCTGTGACTTTTGAACTAACTGGGGAGACA
GACAACATATTTGTGATAGAACGGGAGGGACTTCTGTATTACAACAGAGCCTTGGACAGGGAAACAAGATCTACTCACAATCTCCAGGTT
GCAGCCCTGGACGCTAATGGAATTATAGTGGAGGGTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGACAATCGACCCACGTTT
CTCCAGTCAAAGTACGAAGGCTCAGTAAGGCAGAACTCTCGCCCAGGAAAGCCCTTCTTGTATGTCAATGCCACAGACCTGGATGATCCG
GCCACTCCCAATGGCCAGCTTTATTACCAGATTGTCATCCAGCTTCCCATGATCAACAATGTCATGTACTTTCAGATCAACAACAAAACG
GGAGCCATCTCTCTTACCCGAGAGGGATCTCAGGAATTGAATCCTGCTAAGAATCCTTCCTATAATCTGGTGATCTCAGTGAAGGACATG
GGAGGCCAGAGTGAGAATTCCTTCAGTGATACCACATCTGTGGATATCATAGTGACAGAGAATATTTGGAAAGCACCAAAACCTGTGGAG
ATGGTGGAAAACTCAACTGATCCTCACCCCATCAAAATCACTCAGGTGCGGTGGAATGATCCCGGTGCACAATATTCCTTAGTTGACAAA
GAGAAGCTGCCAAGATTCCCATTTTCAATTGACCAGGAAGGAGATATTTACGTGACTCAGCCCTTGGACCGAGAAGAAAAGGATGCATAT
GTTTTTTATGCAGTTGCAAAGGATGAGTACGGAAAACCACTTTCATATCCGCTGGAAATTCATGTAAAAGTTAAAGATATTAATGATAAT
CCACCTACATGTCCGTCACCAGTAACCGTATTTGAGGTCCAGGAGAATGAACGACTGGGTAACAGTATCGGGACCCTTACTGCACATGAC
AGGGATGAAGAAAATACTGCCAACAGTTTTCTAAACTACAGGATTGTGGAGCAAACTCCCAAACTTCCCATGGATGGACTCTTCCTAATC
CAAACCTATGCTGGAATGTTACAGTTAGCTAAACAGTCCTTGAAGAAGCAAGATACTCCTCAGTACAACTTAACGATAGAGGTGTCTGAC
AAAGATTTCAAGACCCTTTGTTTTGTGCAAATCAACGTTATTGATATCAATGATCAGATCCCCATCTTTGAAAAATCAGATTATGGAAAC
CTGACTCTTGCTGAAGACACAAACATTGGGTCCACCATCTTAACCATCCAGGCCACTGATGCTGATGAGCCATTTACTGGGAGTTCTAAA
ATTCTGTATCATATCATAAAGGGAGACAGTGAGGGACGCCTGGGGGTTGACACAGATCCCCATACCAACACCGGATATGTCATAATTAAA
AAGCCTCTTGATTTTGAAACAGCAGCTGTTTCCAACATTGTGTTCAAAGCAGAAAATCCTGAGCCTCTAGTGTTTGGTGTGAAGTACAAT
GCAAGTTCTTTTGCCAAGTTCACGCTTATTGTGACAGATGTGAATGAAGCACCTCAATTTTCCCAACACGTATTCCAAGCGAAAGTCAGT
GAGGATGTAGCTATAGGCACTAAAGTGGGCAATGTGACTGCCAAGGATCCAGAAGGTCTGGACATAAGCTATTCACTGAGGGGAGACACA
AGAGGTTGGCTTAAAATTGACCACGTGACTGGTGAGATCTTTAGTGTGGCTCCATTGGACAGAGAAGCCGGAAGTCCATATCGGGTACAA
GTGGTGGCCACAGAAGTAGGGGGGTCTTCCTTGAGCTCTGTGTCAGAGTTCCACCTGATCCTTATGGATGTGAATGACAACCCTCCCAGG
CTAGCCAAGGACTACACGGGCTTGTTCTTCTGCCATCCCCTCAGTGCACCTGGAAGTCTCATTTTCGAGGCTACTGATGATGATCAGCAC
TTATTTCGGGGTCCCCATTTTACATTTTCCCTCGGCAGTGGAAGCTTACAAAACGACTGGGAAGTTTCCAAAATCAATGGTACTCATGCC
CGACTGTCTACCAGGCACACAGAGTTTGAGGAGAGGGAGTATGTCGTCTTGATCCGCATCAATGATGGGGGTCGGCCACCCTTGGAAGGC
ATTGTTTCTTTACCAGTTACATTCTGCAGTTGTGTGGAAGGAAGTTGTTTCCGGCCAGCAGGTCACCAGACTGGGATACCCACTGTGGGC
ATGGCAGTTGGTATACTGCTGACCACCCTTCTGGTGATTGGTATAATTTTAGCAGTTGTGTTTATCCGCATAAAGAAGGATAAAGGCAAA

>98266_98266_6_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000357162_CDH17_chr8_95189949_ENST00000450165_length(amino acids)=879AA_BP=88
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQFKANPPAVTFELTGETDNIFVIEREGLLYYNRALDRETRSTHNLQVAALDANGIIVEGPVPITIKVKDINDNRPTFLQSKYEG
SVRQNSRPGKPFLYVNATDLDDPATPNGQLYYQIVIQLPMINNVMYFQINNKTGAISLTREGSQELNPAKNPSYNLVISVKDMGGQSENS
FSDTTSVDIIVTENIWKAPKPVEMVENSTDPHPIKITQVRWNDPGAQYSLVDKEKLPRFPFSIDQEGDIYVTQPLDREEKDAYVFYAVAK
DEYGKPLSYPLEIHVKVKDINDNPPTCPSPVTVFEVQENERLGNSIGTLTAHDRDEENTANSFLNYRIVEQTPKLPMDGLFLIQTYAGML
QLAKQSLKKQDTPQYNLTIEVSDKDFKTLCFVQINVIDINDQIPIFEKSDYGNLTLAEDTNIGSTILTIQATDADEPFTGSSKILYHIIK
GDSEGRLGVDTDPHTNTGYVIIKKPLDFETAAVSNIVFKAENPEPLVFGVKYNASSFAKFTLIVTDVNEAPQFSQHVFQAKVSEDVAIGT
KVGNVTAKDPEGLDISYSLRGDTRGWLKIDHVTGEIFSVAPLDREAGSPYRVQVVATEVGGSSLSSVSEFHLILMDVNDNPPRLAKDYTG
LFFCHPLSAPGSLIFEATDDDQHLFRGPHFTFSLGSGSLQNDWEVSKINGTHARLSTRHTEFEEREYVVLIRINDGGRPPLEGIVSLPVT

--------------------------------------------------------------
>98266_98266_7_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000358544_CDH17_chr8_95189949_ENST00000027335_length(transcript)=3820nt_BP=402nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGTTTAAGGCCAATCCTCCTGCTGTGACTTTTGAACTAACTGGGGAGACA
GACAACATATTTGTGATAGAACGGGAGGGACTTCTGTATTACAACAGAGCCTTGGACAGGGAAACAAGATCTACTCACAATCTCCAGGTT
GCAGCCCTGGACGCTAATGGAATTATAGTGGAGGGTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGACAATCGACCCACGTTT
CTCCAGTCAAAGTACGAAGGCTCAGTAAGGCAGAACTCTCGCCCAGGAAAGCCCTTCTTGTATGTCAATGCCACAGACCTGGATGATCCG
GCCACTCCCAATGGCCAGCTTTATTACCAGATTGTCATCCAGCTTCCCATGATCAACAATGTCATGTACTTTCAGATCAACAACAAAACG
GGAGCCATCTCTCTTACCCGAGAGGGATCTCAGGAATTGAATCCTGCTAAGAATCCTTCCTATAATCTGGTGATCTCAGTGAAGGACATG
GGAGGCCAGAGTGAGAATTCCTTCAGTGATACCACATCTGTGGATATCATAGTGACAGAGAATATTTGGAAAGCACCAAAACCTGTGGAG
ATGGTGGAAAACTCAACTGATCCTCACCCCATCAAAATCACTCAGGTGCGGTGGAATGATCCCGGTGCACAATATTCCTTAGTTGACAAA
GAGAAGCTGCCAAGATTCCCATTTTCAATTGACCAGGAAGGAGATATTTACGTGACTCAGCCCTTGGACCGAGAAGAAAAGGATGCATAT
GTTTTTTATGCAGTTGCAAAGGATGAGTACGGAAAACCACTTTCATATCCGCTGGAAATTCATGTAAAAGTTAAAGATATTAATGATAAT
CCACCTACATGTCCGTCACCAGTAACCGTATTTGAGGTCCAGGAGAATGAACGACTGGGTAACAGTATCGGGACCCTTACTGCACATGAC
AGGGATGAAGAAAATACTGCCAACAGTTTTCTAAACTACAGGATTGTGGAGCAAACTCCCAAACTTCCCATGGATGGACTCTTCCTAATC
CAAACCTATGCTGGAATGTTACAGTTAGCTAAACAGTCCTTGAAGAAGCAAGATACTCCTCAGTACAACTTAACGATAGAGGTGTCTGAC
AAAGATTTCAAGACCCTTTGTTTTGTGCAAATCAACGTTATTGATATCAATGATCAGATCCCCATCTTTGAAAAATCAGATTATGGAAAC
CTGACTCTTGCTGAAGACACAAACATTGGGTCCACCATCTTAACCATCCAGGCCACTGATGCTGATGAGCCATTTACTGGGAGTTCTAAA
ATTCTGTATCATATCATAAAGGGAGACAGTGAGGGACGCCTGGGGGTTGACACAGATCCCCATACCAACACCGGATATGTCATAATTAAA
AAGCCTCTTGATTTTGAAACAGCAGCTGTTTCCAACATTGTGTTCAAAGCAGAAAATCCTGAGCCTCTAGTGTTTGGTGTGAAGTACAAT
GCAAGTTCTTTTGCCAAGTTCACGCTTATTGTGACAGATGTGAATGAAGCACCTCAATTTTCCCAACACGTATTCCAAGCGAAAGTCAGT
GAGGATGTAGCTATAGGCACTAAAGTGGGCAATGTGACTGCCAAGGATCCAGAAGGTCTGGACATAAGCTATTCACTGAGGGGAGACACA
AGAGGTTGGCTTAAAATTGACCACGTGACTGGTGAGATCTTTAGTGTGGCTCCATTGGACAGAGAAGCCGGAAGTCCATATCGGGTACAA
GTGGTGGCCACAGAAGTAGGGGGGTCTTCCTTGAGCTCTGTGTCAGAGTTCCACCTGATCCTTATGGATGTGAATGACAACCCTCCCAGG
CTAGCCAAGGACTACACGGGCTTGTTCTTCTGCCATCCCCTCAGTGCACCTGGAAGTCTCATTTTCGAGGCTACTGATGATGATCAGCAC
TTATTTCGGGGTCCCCATTTTACATTTTCCCTCGGCAGTGGAAGCTTACAAAACGACTGGGAAGTTTCCAAAATCAATGGTACTCATGCC
CGACTGTCTACCAGGCACACAGAGTTTGAGGAGAGGGAGTATGTCGTCTTGATCCGCATCAATGATGGGGGTCGGCCACCCTTGGAAGGC
ATTGTTTCTTTACCAGTTACATTCTGCAGTTGTGTGGAAGGAAGTTGTTTCCGGCCAGCAGGTCACCAGACTGGGATACCCACTGTGGGC
ATGGCAGTTGGTATACTGCTGACCACCCTTCTGGTGATTGGTATAATTTTAGCAGTTGTGTTTATCCGCATAAAGAAGGATAAAGGCAAA
GATAATGTTGAAAGTGCTCAAGCATCTGAAGTCAAACCTCTGAGAAGCTGAATTTGAAAAGGAATGTTTGAATTTATATAGCAAGTGCTA
TTTCAGCAACAACCATCTCATCCTATTACTTTTCATCTAACGTGCATTATAATTTTTTAAACAGATATTCCCTCTTGTCCTTTAATATTT
GCTAAATATTTCTTTTTTGAGGTGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCCCAGCTCACTGCAACCTCCGCCT
CCTGGGTTCACATGATTCTCCTGCCTCAGCTTCCTAAGTAGCTGGGTTTACAGGCACCCACCACCATGCCCAGCTAATTTTTGTATTTTT
AATAGAGACGGGGTTTCGCCATTTGGCCAGGCTGGTCTTGAACTCCTGACGTCAAGTGATCTGCCTGCCTTGGTCTCCCAATACAGGCAT
GAACCACTGCACCCACCTACTTAGATATTTCATGTGCTATAGACATTAGAGAGATTTTTCATTTTTCCATGACATTTTTCCTCTCTGCAA
ATGGCTTAGCTACTTGTGTTTTTCCCTTTTGGGGCAAGACAGACTCATTAAATATTCTGTACATTTTTTCTTTATCAAGGAGATATATCA
GTGTTGTCTCATAGAACTGCCTGGATTCCATTTATGTTTTTTCTGATTCCATCCTGTGTCCCCTTCATCCTTGACTCCTTTGGTATTTCA
CTGAATTTCAAACATTTGTCAGAGAAGAAAAACGTGAGGACTCAGGAAAAATAAATAAATAAAAGAACAGCCTTTTCCCTTAGTATTAAC
AGAAATGTTTCTGTGTCATTAACCATCTTTAATCAATGTGACATGTTGCTCTTTGGCTGAAATTCTTCAACTTGGAAATGACACAGACCC
ACAGAAGGTGTTCAAACACAACCTACTCTGCAAACCTTGGTAAAGGAACCAGTCAGCTGGCCAGATTTCCTCACTACCTGCCATGCATAC
ATGCTGCGCATGTTTTCTTCATTCGTATGTTAGTAAAGTTTTGGTTATTATATATTTAACATGTGGAAGAAAACAAGACATGAAAAGAGT

>98266_98266_7_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000358544_CDH17_chr8_95189949_ENST00000027335_length(amino acids)=879AA_BP=88
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQFKANPPAVTFELTGETDNIFVIEREGLLYYNRALDRETRSTHNLQVAALDANGIIVEGPVPITIKVKDINDNRPTFLQSKYEG
SVRQNSRPGKPFLYVNATDLDDPATPNGQLYYQIVIQLPMINNVMYFQINNKTGAISLTREGSQELNPAKNPSYNLVISVKDMGGQSENS
FSDTTSVDIIVTENIWKAPKPVEMVENSTDPHPIKITQVRWNDPGAQYSLVDKEKLPRFPFSIDQEGDIYVTQPLDREEKDAYVFYAVAK
DEYGKPLSYPLEIHVKVKDINDNPPTCPSPVTVFEVQENERLGNSIGTLTAHDRDEENTANSFLNYRIVEQTPKLPMDGLFLIQTYAGML
QLAKQSLKKQDTPQYNLTIEVSDKDFKTLCFVQINVIDINDQIPIFEKSDYGNLTLAEDTNIGSTILTIQATDADEPFTGSSKILYHIIK
GDSEGRLGVDTDPHTNTGYVIIKKPLDFETAAVSNIVFKAENPEPLVFGVKYNASSFAKFTLIVTDVNEAPQFSQHVFQAKVSEDVAIGT
KVGNVTAKDPEGLDISYSLRGDTRGWLKIDHVTGEIFSVAPLDREAGSPYRVQVVATEVGGSSLSSVSEFHLILMDVNDNPPRLAKDYTG
LFFCHPLSAPGSLIFEATDDDQHLFRGPHFTFSLGSGSLQNDWEVSKINGTHARLSTRHTEFEEREYVVLIRINDGGRPPLEGIVSLPVT

--------------------------------------------------------------
>98266_98266_8_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000358544_CDH17_chr8_95189949_ENST00000441892_length(transcript)=2363nt_BP=402nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGTTTAAGGCCAATCCTCCTGCTGTGACTTTTGAACTAACTGGGGAGACA
GACAACATATTTGTGATAGAACGGGAGGGACTTCTGTATTACAACAGAGCCTTGGACAGGGAAACAAGATCTACTCACAATCTCCAGGTT
GCAGCCCTGGACGCTAATGGAATTATAGTGGAGGGTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGACAATCGACCCACGTTT
CTCCAGTCAAAGTACGAAGGCTCAGTAAGGCAGAACTCTCGCCCAGGTAACAGTATCGGGACCCTTACTGCACATGACAGGGATGAAGAA
AATACTGCCAACAGTTTTCTAAACTACAGGATTGTGGAGCAAACTCCCAAACTTCCCATGGATGGACTCTTCCTAATCCAAACCTATGCT
GGAATGTTACAGTTAGCTAAACAGTCCTTGAAGAAGCAAGATACTCCTCAGTACAACTTAACGATAGAGGTGTCTGACAAAGATTTCAAG
ACCCTTTGTTTTGTGCAAATCAACGTTATTGATATCAATGATCAGATCCCCATCTTTGAAAAATCAGATTATGGAAACCTGACTCTTGCT
GAAGACACAAACATTGGGTCCACCATCTTAACCATCCAGGCCACTGATGCTGATGAGCCATTTACTGGGAGTTCTAAAATTCTGTATCAT
ATCATAAAGGGAGACAGTGAGGGACGCCTGGGGGTTGACACAGATCCCCATACCAACACCGGATATGTCATAATTAAAAAGCCTCTTGAT
TTTGAAACAGCAGCTGTTTCCAACATTGTGTTCAAAGCAGAAAATCCTGAGCCTCTAGTGTTTGGTGTGAAGTACAATGCAAGTTCTTTT
GCCAAGTTCACGCTTATTGTGACAGATGTGAATGAAGCACCTCAATTTTCCCAACACGTATTCCAAGCGAAAGTCAGTGAGGATGTAGCT
ATAGGCACTAAAGTGGGCAATGTGACTGCCAAGGATCCAGAAGGTCTGGACATAAGCTATTCACTGAGGGGAGACACAAGAGGTTGGCTT
AAAATTGACCACGTGACTGGTGAGATCTTTAGTGTGGCTCCATTGGACAGAGAAGCCGGAAGTCCATATCGGGTACAAGTGGTGGCCACA
GAAGTAGGGGGGTCTTCCTTGAGCTCTGTGTCAGAGTTCCACCTGATCCTTATGGATGTGAATGACAACCCTCCCAGGCTAGCCAAGGAC
TACACGGGCTTGTTCTTCTGCCATCCCCTCAGTGCACCTGGAAGTCTCATTTTCGAGGCTACTGATGATGATCAGCACTTATTTCGGGGT
CCCCATTTTACATTTTCCCTCGGCAGTGGAAGCTTACAAAACGACTGGGAAGTTTCCAAAATCAATGGTACTCATGCCCGACTGTCTACC
AGGCACACAGAGTTTGAGGAGAGGGAGTATGTCGTCTTGATCCGCATCAATGATGGGGGTCGGCCACCCTTGGAAGGCATTGTTTCTTTA
CCAGGTATAATTTTAGCAGTTGTGTTTATCCGCATAAAGAAGGATAAAGGCAAAGATAATGTTGAAAGTGCTCAAGCATCTGAAGTCAAA
CCTCTGAGAAGCTGAATTTGAAAAGGAATGTTTGAATTTATATAGCAAGTGCTATTTCAGCAACAACCATCTCATCCTATTACTTTTCAT
CTAACGTGCATTATAATTTTTTAAACAGATATTCCCTCTTGTCCTTTAATATTTGCTAAATATTTCTTTTTTGAGGTGGAGTCTTGCTCT
GTCGCCCAGGCTGGAGTACAGTGGTGTGATCCCAGCTCACTGCAACCTCCGCCTCCTGGGTTCACATGATTCTCCTGCCTCAGCTTCCTA
AGTAGCTGGGTTTACAGGCACCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCGCCATTTGGCCAGGCTGGT

>98266_98266_8_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000358544_CDH17_chr8_95189949_ENST00000441892_length(amino acids)=627AA_BP=88
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQFKANPPAVTFELTGETDNIFVIEREGLLYYNRALDRETRSTHNLQVAALDANGIIVEGPVPITIKVKDINDNRPTFLQSKYEG
SVRQNSRPGNSIGTLTAHDRDEENTANSFLNYRIVEQTPKLPMDGLFLIQTYAGMLQLAKQSLKKQDTPQYNLTIEVSDKDFKTLCFVQI
NVIDINDQIPIFEKSDYGNLTLAEDTNIGSTILTIQATDADEPFTGSSKILYHIIKGDSEGRLGVDTDPHTNTGYVIIKKPLDFETAAVS
NIVFKAENPEPLVFGVKYNASSFAKFTLIVTDVNEAPQFSQHVFQAKVSEDVAIGTKVGNVTAKDPEGLDISYSLRGDTRGWLKIDHVTG
EIFSVAPLDREAGSPYRVQVVATEVGGSSLSSVSEFHLILMDVNDNPPRLAKDYTGLFFCHPLSAPGSLIFEATDDDQHLFRGPHFTFSL

--------------------------------------------------------------
>98266_98266_9_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000358544_CDH17_chr8_95189949_ENST00000450165_length(transcript)=2751nt_BP=402nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGTTTAAGGCCAATCCTCCTGCTGTGACTTTTGAACTAACTGGGGAGACA
GACAACATATTTGTGATAGAACGGGAGGGACTTCTGTATTACAACAGAGCCTTGGACAGGGAAACAAGATCTACTCACAATCTCCAGGTT
GCAGCCCTGGACGCTAATGGAATTATAGTGGAGGGTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGACAATCGACCCACGTTT
CTCCAGTCAAAGTACGAAGGCTCAGTAAGGCAGAACTCTCGCCCAGGAAAGCCCTTCTTGTATGTCAATGCCACAGACCTGGATGATCCG
GCCACTCCCAATGGCCAGCTTTATTACCAGATTGTCATCCAGCTTCCCATGATCAACAATGTCATGTACTTTCAGATCAACAACAAAACG
GGAGCCATCTCTCTTACCCGAGAGGGATCTCAGGAATTGAATCCTGCTAAGAATCCTTCCTATAATCTGGTGATCTCAGTGAAGGACATG
GGAGGCCAGAGTGAGAATTCCTTCAGTGATACCACATCTGTGGATATCATAGTGACAGAGAATATTTGGAAAGCACCAAAACCTGTGGAG
ATGGTGGAAAACTCAACTGATCCTCACCCCATCAAAATCACTCAGGTGCGGTGGAATGATCCCGGTGCACAATATTCCTTAGTTGACAAA
GAGAAGCTGCCAAGATTCCCATTTTCAATTGACCAGGAAGGAGATATTTACGTGACTCAGCCCTTGGACCGAGAAGAAAAGGATGCATAT
GTTTTTTATGCAGTTGCAAAGGATGAGTACGGAAAACCACTTTCATATCCGCTGGAAATTCATGTAAAAGTTAAAGATATTAATGATAAT
CCACCTACATGTCCGTCACCAGTAACCGTATTTGAGGTCCAGGAGAATGAACGACTGGGTAACAGTATCGGGACCCTTACTGCACATGAC
AGGGATGAAGAAAATACTGCCAACAGTTTTCTAAACTACAGGATTGTGGAGCAAACTCCCAAACTTCCCATGGATGGACTCTTCCTAATC
CAAACCTATGCTGGAATGTTACAGTTAGCTAAACAGTCCTTGAAGAAGCAAGATACTCCTCAGTACAACTTAACGATAGAGGTGTCTGAC
AAAGATTTCAAGACCCTTTGTTTTGTGCAAATCAACGTTATTGATATCAATGATCAGATCCCCATCTTTGAAAAATCAGATTATGGAAAC
CTGACTCTTGCTGAAGACACAAACATTGGGTCCACCATCTTAACCATCCAGGCCACTGATGCTGATGAGCCATTTACTGGGAGTTCTAAA
ATTCTGTATCATATCATAAAGGGAGACAGTGAGGGACGCCTGGGGGTTGACACAGATCCCCATACCAACACCGGATATGTCATAATTAAA
AAGCCTCTTGATTTTGAAACAGCAGCTGTTTCCAACATTGTGTTCAAAGCAGAAAATCCTGAGCCTCTAGTGTTTGGTGTGAAGTACAAT
GCAAGTTCTTTTGCCAAGTTCACGCTTATTGTGACAGATGTGAATGAAGCACCTCAATTTTCCCAACACGTATTCCAAGCGAAAGTCAGT
GAGGATGTAGCTATAGGCACTAAAGTGGGCAATGTGACTGCCAAGGATCCAGAAGGTCTGGACATAAGCTATTCACTGAGGGGAGACACA
AGAGGTTGGCTTAAAATTGACCACGTGACTGGTGAGATCTTTAGTGTGGCTCCATTGGACAGAGAAGCCGGAAGTCCATATCGGGTACAA
GTGGTGGCCACAGAAGTAGGGGGGTCTTCCTTGAGCTCTGTGTCAGAGTTCCACCTGATCCTTATGGATGTGAATGACAACCCTCCCAGG
CTAGCCAAGGACTACACGGGCTTGTTCTTCTGCCATCCCCTCAGTGCACCTGGAAGTCTCATTTTCGAGGCTACTGATGATGATCAGCAC
TTATTTCGGGGTCCCCATTTTACATTTTCCCTCGGCAGTGGAAGCTTACAAAACGACTGGGAAGTTTCCAAAATCAATGGTACTCATGCC
CGACTGTCTACCAGGCACACAGAGTTTGAGGAGAGGGAGTATGTCGTCTTGATCCGCATCAATGATGGGGGTCGGCCACCCTTGGAAGGC
ATTGTTTCTTTACCAGTTACATTCTGCAGTTGTGTGGAAGGAAGTTGTTTCCGGCCAGCAGGTCACCAGACTGGGATACCCACTGTGGGC
ATGGCAGTTGGTATACTGCTGACCACCCTTCTGGTGATTGGTATAATTTTAGCAGTTGTGTTTATCCGCATAAAGAAGGATAAAGGCAAA

>98266_98266_9_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000358544_CDH17_chr8_95189949_ENST00000450165_length(amino acids)=879AA_BP=88
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQFKANPPAVTFELTGETDNIFVIEREGLLYYNRALDRETRSTHNLQVAALDANGIIVEGPVPITIKVKDINDNRPTFLQSKYEG
SVRQNSRPGKPFLYVNATDLDDPATPNGQLYYQIVIQLPMINNVMYFQINNKTGAISLTREGSQELNPAKNPSYNLVISVKDMGGQSENS
FSDTTSVDIIVTENIWKAPKPVEMVENSTDPHPIKITQVRWNDPGAQYSLVDKEKLPRFPFSIDQEGDIYVTQPLDREEKDAYVFYAVAK
DEYGKPLSYPLEIHVKVKDINDNPPTCPSPVTVFEVQENERLGNSIGTLTAHDRDEENTANSFLNYRIVEQTPKLPMDGLFLIQTYAGML
QLAKQSLKKQDTPQYNLTIEVSDKDFKTLCFVQINVIDINDQIPIFEKSDYGNLTLAEDTNIGSTILTIQATDADEPFTGSSKILYHIIK
GDSEGRLGVDTDPHTNTGYVIIKKPLDFETAAVSNIVFKAENPEPLVFGVKYNASSFAKFTLIVTDVNEAPQFSQHVFQAKVSEDVAIGT
KVGNVTAKDPEGLDISYSLRGDTRGWLKIDHVTGEIFSVAPLDREAGSPYRVQVVATEVGGSSLSSVSEFHLILMDVNDNPPRLAKDYTG
LFFCHPLSAPGSLIFEATDDDQHLFRGPHFTFSLGSGSLQNDWEVSKINGTHARLSTRHTEFEEREYVVLIRINDGGRPPLEGIVSLPVT

--------------------------------------------------------------
>98266_98266_10_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000395996_CDH17_chr8_95189949_ENST00000027335_length(transcript)=3820nt_BP=402nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGTTTAAGGCCAATCCTCCTGCTGTGACTTTTGAACTAACTGGGGAGACA
GACAACATATTTGTGATAGAACGGGAGGGACTTCTGTATTACAACAGAGCCTTGGACAGGGAAACAAGATCTACTCACAATCTCCAGGTT
GCAGCCCTGGACGCTAATGGAATTATAGTGGAGGGTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGACAATCGACCCACGTTT
CTCCAGTCAAAGTACGAAGGCTCAGTAAGGCAGAACTCTCGCCCAGGAAAGCCCTTCTTGTATGTCAATGCCACAGACCTGGATGATCCG
GCCACTCCCAATGGCCAGCTTTATTACCAGATTGTCATCCAGCTTCCCATGATCAACAATGTCATGTACTTTCAGATCAACAACAAAACG
GGAGCCATCTCTCTTACCCGAGAGGGATCTCAGGAATTGAATCCTGCTAAGAATCCTTCCTATAATCTGGTGATCTCAGTGAAGGACATG
GGAGGCCAGAGTGAGAATTCCTTCAGTGATACCACATCTGTGGATATCATAGTGACAGAGAATATTTGGAAAGCACCAAAACCTGTGGAG
ATGGTGGAAAACTCAACTGATCCTCACCCCATCAAAATCACTCAGGTGCGGTGGAATGATCCCGGTGCACAATATTCCTTAGTTGACAAA
GAGAAGCTGCCAAGATTCCCATTTTCAATTGACCAGGAAGGAGATATTTACGTGACTCAGCCCTTGGACCGAGAAGAAAAGGATGCATAT
GTTTTTTATGCAGTTGCAAAGGATGAGTACGGAAAACCACTTTCATATCCGCTGGAAATTCATGTAAAAGTTAAAGATATTAATGATAAT
CCACCTACATGTCCGTCACCAGTAACCGTATTTGAGGTCCAGGAGAATGAACGACTGGGTAACAGTATCGGGACCCTTACTGCACATGAC
AGGGATGAAGAAAATACTGCCAACAGTTTTCTAAACTACAGGATTGTGGAGCAAACTCCCAAACTTCCCATGGATGGACTCTTCCTAATC
CAAACCTATGCTGGAATGTTACAGTTAGCTAAACAGTCCTTGAAGAAGCAAGATACTCCTCAGTACAACTTAACGATAGAGGTGTCTGAC
AAAGATTTCAAGACCCTTTGTTTTGTGCAAATCAACGTTATTGATATCAATGATCAGATCCCCATCTTTGAAAAATCAGATTATGGAAAC
CTGACTCTTGCTGAAGACACAAACATTGGGTCCACCATCTTAACCATCCAGGCCACTGATGCTGATGAGCCATTTACTGGGAGTTCTAAA
ATTCTGTATCATATCATAAAGGGAGACAGTGAGGGACGCCTGGGGGTTGACACAGATCCCCATACCAACACCGGATATGTCATAATTAAA
AAGCCTCTTGATTTTGAAACAGCAGCTGTTTCCAACATTGTGTTCAAAGCAGAAAATCCTGAGCCTCTAGTGTTTGGTGTGAAGTACAAT
GCAAGTTCTTTTGCCAAGTTCACGCTTATTGTGACAGATGTGAATGAAGCACCTCAATTTTCCCAACACGTATTCCAAGCGAAAGTCAGT
GAGGATGTAGCTATAGGCACTAAAGTGGGCAATGTGACTGCCAAGGATCCAGAAGGTCTGGACATAAGCTATTCACTGAGGGGAGACACA
AGAGGTTGGCTTAAAATTGACCACGTGACTGGTGAGATCTTTAGTGTGGCTCCATTGGACAGAGAAGCCGGAAGTCCATATCGGGTACAA
GTGGTGGCCACAGAAGTAGGGGGGTCTTCCTTGAGCTCTGTGTCAGAGTTCCACCTGATCCTTATGGATGTGAATGACAACCCTCCCAGG
CTAGCCAAGGACTACACGGGCTTGTTCTTCTGCCATCCCCTCAGTGCACCTGGAAGTCTCATTTTCGAGGCTACTGATGATGATCAGCAC
TTATTTCGGGGTCCCCATTTTACATTTTCCCTCGGCAGTGGAAGCTTACAAAACGACTGGGAAGTTTCCAAAATCAATGGTACTCATGCC
CGACTGTCTACCAGGCACACAGAGTTTGAGGAGAGGGAGTATGTCGTCTTGATCCGCATCAATGATGGGGGTCGGCCACCCTTGGAAGGC
ATTGTTTCTTTACCAGTTACATTCTGCAGTTGTGTGGAAGGAAGTTGTTTCCGGCCAGCAGGTCACCAGACTGGGATACCCACTGTGGGC
ATGGCAGTTGGTATACTGCTGACCACCCTTCTGGTGATTGGTATAATTTTAGCAGTTGTGTTTATCCGCATAAAGAAGGATAAAGGCAAA
GATAATGTTGAAAGTGCTCAAGCATCTGAAGTCAAACCTCTGAGAAGCTGAATTTGAAAAGGAATGTTTGAATTTATATAGCAAGTGCTA
TTTCAGCAACAACCATCTCATCCTATTACTTTTCATCTAACGTGCATTATAATTTTTTAAACAGATATTCCCTCTTGTCCTTTAATATTT
GCTAAATATTTCTTTTTTGAGGTGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCCCAGCTCACTGCAACCTCCGCCT
CCTGGGTTCACATGATTCTCCTGCCTCAGCTTCCTAAGTAGCTGGGTTTACAGGCACCCACCACCATGCCCAGCTAATTTTTGTATTTTT
AATAGAGACGGGGTTTCGCCATTTGGCCAGGCTGGTCTTGAACTCCTGACGTCAAGTGATCTGCCTGCCTTGGTCTCCCAATACAGGCAT
GAACCACTGCACCCACCTACTTAGATATTTCATGTGCTATAGACATTAGAGAGATTTTTCATTTTTCCATGACATTTTTCCTCTCTGCAA
ATGGCTTAGCTACTTGTGTTTTTCCCTTTTGGGGCAAGACAGACTCATTAAATATTCTGTACATTTTTTCTTTATCAAGGAGATATATCA
GTGTTGTCTCATAGAACTGCCTGGATTCCATTTATGTTTTTTCTGATTCCATCCTGTGTCCCCTTCATCCTTGACTCCTTTGGTATTTCA
CTGAATTTCAAACATTTGTCAGAGAAGAAAAACGTGAGGACTCAGGAAAAATAAATAAATAAAAGAACAGCCTTTTCCCTTAGTATTAAC
AGAAATGTTTCTGTGTCATTAACCATCTTTAATCAATGTGACATGTTGCTCTTTGGCTGAAATTCTTCAACTTGGAAATGACACAGACCC
ACAGAAGGTGTTCAAACACAACCTACTCTGCAAACCTTGGTAAAGGAACCAGTCAGCTGGCCAGATTTCCTCACTACCTGCCATGCATAC
ATGCTGCGCATGTTTTCTTCATTCGTATGTTAGTAAAGTTTTGGTTATTATATATTTAACATGTGGAAGAAAACAAGACATGAAAAGAGT

>98266_98266_10_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000395996_CDH17_chr8_95189949_ENST00000027335_length(amino acids)=879AA_BP=88
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQFKANPPAVTFELTGETDNIFVIEREGLLYYNRALDRETRSTHNLQVAALDANGIIVEGPVPITIKVKDINDNRPTFLQSKYEG
SVRQNSRPGKPFLYVNATDLDDPATPNGQLYYQIVIQLPMINNVMYFQINNKTGAISLTREGSQELNPAKNPSYNLVISVKDMGGQSENS
FSDTTSVDIIVTENIWKAPKPVEMVENSTDPHPIKITQVRWNDPGAQYSLVDKEKLPRFPFSIDQEGDIYVTQPLDREEKDAYVFYAVAK
DEYGKPLSYPLEIHVKVKDINDNPPTCPSPVTVFEVQENERLGNSIGTLTAHDRDEENTANSFLNYRIVEQTPKLPMDGLFLIQTYAGML
QLAKQSLKKQDTPQYNLTIEVSDKDFKTLCFVQINVIDINDQIPIFEKSDYGNLTLAEDTNIGSTILTIQATDADEPFTGSSKILYHIIK
GDSEGRLGVDTDPHTNTGYVIIKKPLDFETAAVSNIVFKAENPEPLVFGVKYNASSFAKFTLIVTDVNEAPQFSQHVFQAKVSEDVAIGT
KVGNVTAKDPEGLDISYSLRGDTRGWLKIDHVTGEIFSVAPLDREAGSPYRVQVVATEVGGSSLSSVSEFHLILMDVNDNPPRLAKDYTG
LFFCHPLSAPGSLIFEATDDDQHLFRGPHFTFSLGSGSLQNDWEVSKINGTHARLSTRHTEFEEREYVVLIRINDGGRPPLEGIVSLPVT

--------------------------------------------------------------
>98266_98266_11_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000395996_CDH17_chr8_95189949_ENST00000441892_length(transcript)=2363nt_BP=402nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGTTTAAGGCCAATCCTCCTGCTGTGACTTTTGAACTAACTGGGGAGACA
GACAACATATTTGTGATAGAACGGGAGGGACTTCTGTATTACAACAGAGCCTTGGACAGGGAAACAAGATCTACTCACAATCTCCAGGTT
GCAGCCCTGGACGCTAATGGAATTATAGTGGAGGGTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGACAATCGACCCACGTTT
CTCCAGTCAAAGTACGAAGGCTCAGTAAGGCAGAACTCTCGCCCAGGTAACAGTATCGGGACCCTTACTGCACATGACAGGGATGAAGAA
AATACTGCCAACAGTTTTCTAAACTACAGGATTGTGGAGCAAACTCCCAAACTTCCCATGGATGGACTCTTCCTAATCCAAACCTATGCT
GGAATGTTACAGTTAGCTAAACAGTCCTTGAAGAAGCAAGATACTCCTCAGTACAACTTAACGATAGAGGTGTCTGACAAAGATTTCAAG
ACCCTTTGTTTTGTGCAAATCAACGTTATTGATATCAATGATCAGATCCCCATCTTTGAAAAATCAGATTATGGAAACCTGACTCTTGCT
GAAGACACAAACATTGGGTCCACCATCTTAACCATCCAGGCCACTGATGCTGATGAGCCATTTACTGGGAGTTCTAAAATTCTGTATCAT
ATCATAAAGGGAGACAGTGAGGGACGCCTGGGGGTTGACACAGATCCCCATACCAACACCGGATATGTCATAATTAAAAAGCCTCTTGAT
TTTGAAACAGCAGCTGTTTCCAACATTGTGTTCAAAGCAGAAAATCCTGAGCCTCTAGTGTTTGGTGTGAAGTACAATGCAAGTTCTTTT
GCCAAGTTCACGCTTATTGTGACAGATGTGAATGAAGCACCTCAATTTTCCCAACACGTATTCCAAGCGAAAGTCAGTGAGGATGTAGCT
ATAGGCACTAAAGTGGGCAATGTGACTGCCAAGGATCCAGAAGGTCTGGACATAAGCTATTCACTGAGGGGAGACACAAGAGGTTGGCTT
AAAATTGACCACGTGACTGGTGAGATCTTTAGTGTGGCTCCATTGGACAGAGAAGCCGGAAGTCCATATCGGGTACAAGTGGTGGCCACA
GAAGTAGGGGGGTCTTCCTTGAGCTCTGTGTCAGAGTTCCACCTGATCCTTATGGATGTGAATGACAACCCTCCCAGGCTAGCCAAGGAC
TACACGGGCTTGTTCTTCTGCCATCCCCTCAGTGCACCTGGAAGTCTCATTTTCGAGGCTACTGATGATGATCAGCACTTATTTCGGGGT
CCCCATTTTACATTTTCCCTCGGCAGTGGAAGCTTACAAAACGACTGGGAAGTTTCCAAAATCAATGGTACTCATGCCCGACTGTCTACC
AGGCACACAGAGTTTGAGGAGAGGGAGTATGTCGTCTTGATCCGCATCAATGATGGGGGTCGGCCACCCTTGGAAGGCATTGTTTCTTTA
CCAGGTATAATTTTAGCAGTTGTGTTTATCCGCATAAAGAAGGATAAAGGCAAAGATAATGTTGAAAGTGCTCAAGCATCTGAAGTCAAA
CCTCTGAGAAGCTGAATTTGAAAAGGAATGTTTGAATTTATATAGCAAGTGCTATTTCAGCAACAACCATCTCATCCTATTACTTTTCAT
CTAACGTGCATTATAATTTTTTAAACAGATATTCCCTCTTGTCCTTTAATATTTGCTAAATATTTCTTTTTTGAGGTGGAGTCTTGCTCT
GTCGCCCAGGCTGGAGTACAGTGGTGTGATCCCAGCTCACTGCAACCTCCGCCTCCTGGGTTCACATGATTCTCCTGCCTCAGCTTCCTA
AGTAGCTGGGTTTACAGGCACCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCGCCATTTGGCCAGGCTGGT

>98266_98266_11_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000395996_CDH17_chr8_95189949_ENST00000441892_length(amino acids)=627AA_BP=88
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQFKANPPAVTFELTGETDNIFVIEREGLLYYNRALDRETRSTHNLQVAALDANGIIVEGPVPITIKVKDINDNRPTFLQSKYEG
SVRQNSRPGNSIGTLTAHDRDEENTANSFLNYRIVEQTPKLPMDGLFLIQTYAGMLQLAKQSLKKQDTPQYNLTIEVSDKDFKTLCFVQI
NVIDINDQIPIFEKSDYGNLTLAEDTNIGSTILTIQATDADEPFTGSSKILYHIIKGDSEGRLGVDTDPHTNTGYVIIKKPLDFETAAVS
NIVFKAENPEPLVFGVKYNASSFAKFTLIVTDVNEAPQFSQHVFQAKVSEDVAIGTKVGNVTAKDPEGLDISYSLRGDTRGWLKIDHVTG
EIFSVAPLDREAGSPYRVQVVATEVGGSSLSSVSEFHLILMDVNDNPPRLAKDYTGLFFCHPLSAPGSLIFEATDDDQHLFRGPHFTFSL

--------------------------------------------------------------
>98266_98266_12_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000395996_CDH17_chr8_95189949_ENST00000450165_length(transcript)=2751nt_BP=402nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGTTTAAGGCCAATCCTCCTGCTGTGACTTTTGAACTAACTGGGGAGACA
GACAACATATTTGTGATAGAACGGGAGGGACTTCTGTATTACAACAGAGCCTTGGACAGGGAAACAAGATCTACTCACAATCTCCAGGTT
GCAGCCCTGGACGCTAATGGAATTATAGTGGAGGGTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGACAATCGACCCACGTTT
CTCCAGTCAAAGTACGAAGGCTCAGTAAGGCAGAACTCTCGCCCAGGAAAGCCCTTCTTGTATGTCAATGCCACAGACCTGGATGATCCG
GCCACTCCCAATGGCCAGCTTTATTACCAGATTGTCATCCAGCTTCCCATGATCAACAATGTCATGTACTTTCAGATCAACAACAAAACG
GGAGCCATCTCTCTTACCCGAGAGGGATCTCAGGAATTGAATCCTGCTAAGAATCCTTCCTATAATCTGGTGATCTCAGTGAAGGACATG
GGAGGCCAGAGTGAGAATTCCTTCAGTGATACCACATCTGTGGATATCATAGTGACAGAGAATATTTGGAAAGCACCAAAACCTGTGGAG
ATGGTGGAAAACTCAACTGATCCTCACCCCATCAAAATCACTCAGGTGCGGTGGAATGATCCCGGTGCACAATATTCCTTAGTTGACAAA
GAGAAGCTGCCAAGATTCCCATTTTCAATTGACCAGGAAGGAGATATTTACGTGACTCAGCCCTTGGACCGAGAAGAAAAGGATGCATAT
GTTTTTTATGCAGTTGCAAAGGATGAGTACGGAAAACCACTTTCATATCCGCTGGAAATTCATGTAAAAGTTAAAGATATTAATGATAAT
CCACCTACATGTCCGTCACCAGTAACCGTATTTGAGGTCCAGGAGAATGAACGACTGGGTAACAGTATCGGGACCCTTACTGCACATGAC
AGGGATGAAGAAAATACTGCCAACAGTTTTCTAAACTACAGGATTGTGGAGCAAACTCCCAAACTTCCCATGGATGGACTCTTCCTAATC
CAAACCTATGCTGGAATGTTACAGTTAGCTAAACAGTCCTTGAAGAAGCAAGATACTCCTCAGTACAACTTAACGATAGAGGTGTCTGAC
AAAGATTTCAAGACCCTTTGTTTTGTGCAAATCAACGTTATTGATATCAATGATCAGATCCCCATCTTTGAAAAATCAGATTATGGAAAC
CTGACTCTTGCTGAAGACACAAACATTGGGTCCACCATCTTAACCATCCAGGCCACTGATGCTGATGAGCCATTTACTGGGAGTTCTAAA
ATTCTGTATCATATCATAAAGGGAGACAGTGAGGGACGCCTGGGGGTTGACACAGATCCCCATACCAACACCGGATATGTCATAATTAAA
AAGCCTCTTGATTTTGAAACAGCAGCTGTTTCCAACATTGTGTTCAAAGCAGAAAATCCTGAGCCTCTAGTGTTTGGTGTGAAGTACAAT
GCAAGTTCTTTTGCCAAGTTCACGCTTATTGTGACAGATGTGAATGAAGCACCTCAATTTTCCCAACACGTATTCCAAGCGAAAGTCAGT
GAGGATGTAGCTATAGGCACTAAAGTGGGCAATGTGACTGCCAAGGATCCAGAAGGTCTGGACATAAGCTATTCACTGAGGGGAGACACA
AGAGGTTGGCTTAAAATTGACCACGTGACTGGTGAGATCTTTAGTGTGGCTCCATTGGACAGAGAAGCCGGAAGTCCATATCGGGTACAA
GTGGTGGCCACAGAAGTAGGGGGGTCTTCCTTGAGCTCTGTGTCAGAGTTCCACCTGATCCTTATGGATGTGAATGACAACCCTCCCAGG
CTAGCCAAGGACTACACGGGCTTGTTCTTCTGCCATCCCCTCAGTGCACCTGGAAGTCTCATTTTCGAGGCTACTGATGATGATCAGCAC
TTATTTCGGGGTCCCCATTTTACATTTTCCCTCGGCAGTGGAAGCTTACAAAACGACTGGGAAGTTTCCAAAATCAATGGTACTCATGCC
CGACTGTCTACCAGGCACACAGAGTTTGAGGAGAGGGAGTATGTCGTCTTGATCCGCATCAATGATGGGGGTCGGCCACCCTTGGAAGGC
ATTGTTTCTTTACCAGTTACATTCTGCAGTTGTGTGGAAGGAAGTTGTTTCCGGCCAGCAGGTCACCAGACTGGGATACCCACTGTGGGC
ATGGCAGTTGGTATACTGCTGACCACCCTTCTGGTGATTGGTATAATTTTAGCAGTTGTGTTTATCCGCATAAAGAAGGATAAAGGCAAA

>98266_98266_12_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000395996_CDH17_chr8_95189949_ENST00000450165_length(amino acids)=879AA_BP=88
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQFKANPPAVTFELTGETDNIFVIEREGLLYYNRALDRETRSTHNLQVAALDANGIIVEGPVPITIKVKDINDNRPTFLQSKYEG
SVRQNSRPGKPFLYVNATDLDDPATPNGQLYYQIVIQLPMINNVMYFQINNKTGAISLTREGSQELNPAKNPSYNLVISVKDMGGQSENS
FSDTTSVDIIVTENIWKAPKPVEMVENSTDPHPIKITQVRWNDPGAQYSLVDKEKLPRFPFSIDQEGDIYVTQPLDREEKDAYVFYAVAK
DEYGKPLSYPLEIHVKVKDINDNPPTCPSPVTVFEVQENERLGNSIGTLTAHDRDEENTANSFLNYRIVEQTPKLPMDGLFLIQTYAGML
QLAKQSLKKQDTPQYNLTIEVSDKDFKTLCFVQINVIDINDQIPIFEKSDYGNLTLAEDTNIGSTILTIQATDADEPFTGSSKILYHIIK
GDSEGRLGVDTDPHTNTGYVIIKKPLDFETAAVSNIVFKAENPEPLVFGVKYNASSFAKFTLIVTDVNEAPQFSQHVFQAKVSEDVAIGT
KVGNVTAKDPEGLDISYSLRGDTRGWLKIDHVTGEIFSVAPLDREAGSPYRVQVVATEVGGSSLSSVSEFHLILMDVNDNPPRLAKDYTG
LFFCHPLSAPGSLIFEATDDDQHLFRGPHFTFSLGSGSLQNDWEVSKINGTHARLSTRHTEFEEREYVVLIRINDGGRPPLEGIVSLPVT

--------------------------------------------------------------
>98266_98266_13_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000441350_CDH17_chr8_95189949_ENST00000027335_length(transcript)=3812nt_BP=394nt
ACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGACTTCGACTC
CTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCT
ACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCAC
TTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTAT
GGAATGCATTTTGAAACTTAAGGATGGGATACAGTTTAAGGCCAATCCTCCTGCTGTGACTTTTGAACTAACTGGGGAGACAGACAACAT
ATTTGTGATAGAACGGGAGGGACTTCTGTATTACAACAGAGCCTTGGACAGGGAAACAAGATCTACTCACAATCTCCAGGTTGCAGCCCT
GGACGCTAATGGAATTATAGTGGAGGGTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGACAATCGACCCACGTTTCTCCAGTC
AAAGTACGAAGGCTCAGTAAGGCAGAACTCTCGCCCAGGAAAGCCCTTCTTGTATGTCAATGCCACAGACCTGGATGATCCGGCCACTCC
CAATGGCCAGCTTTATTACCAGATTGTCATCCAGCTTCCCATGATCAACAATGTCATGTACTTTCAGATCAACAACAAAACGGGAGCCAT
CTCTCTTACCCGAGAGGGATCTCAGGAATTGAATCCTGCTAAGAATCCTTCCTATAATCTGGTGATCTCAGTGAAGGACATGGGAGGCCA
GAGTGAGAATTCCTTCAGTGATACCACATCTGTGGATATCATAGTGACAGAGAATATTTGGAAAGCACCAAAACCTGTGGAGATGGTGGA
AAACTCAACTGATCCTCACCCCATCAAAATCACTCAGGTGCGGTGGAATGATCCCGGTGCACAATATTCCTTAGTTGACAAAGAGAAGCT
GCCAAGATTCCCATTTTCAATTGACCAGGAAGGAGATATTTACGTGACTCAGCCCTTGGACCGAGAAGAAAAGGATGCATATGTTTTTTA
TGCAGTTGCAAAGGATGAGTACGGAAAACCACTTTCATATCCGCTGGAAATTCATGTAAAAGTTAAAGATATTAATGATAATCCACCTAC
ATGTCCGTCACCAGTAACCGTATTTGAGGTCCAGGAGAATGAACGACTGGGTAACAGTATCGGGACCCTTACTGCACATGACAGGGATGA
AGAAAATACTGCCAACAGTTTTCTAAACTACAGGATTGTGGAGCAAACTCCCAAACTTCCCATGGATGGACTCTTCCTAATCCAAACCTA
TGCTGGAATGTTACAGTTAGCTAAACAGTCCTTGAAGAAGCAAGATACTCCTCAGTACAACTTAACGATAGAGGTGTCTGACAAAGATTT
CAAGACCCTTTGTTTTGTGCAAATCAACGTTATTGATATCAATGATCAGATCCCCATCTTTGAAAAATCAGATTATGGAAACCTGACTCT
TGCTGAAGACACAAACATTGGGTCCACCATCTTAACCATCCAGGCCACTGATGCTGATGAGCCATTTACTGGGAGTTCTAAAATTCTGTA
TCATATCATAAAGGGAGACAGTGAGGGACGCCTGGGGGTTGACACAGATCCCCATACCAACACCGGATATGTCATAATTAAAAAGCCTCT
TGATTTTGAAACAGCAGCTGTTTCCAACATTGTGTTCAAAGCAGAAAATCCTGAGCCTCTAGTGTTTGGTGTGAAGTACAATGCAAGTTC
TTTTGCCAAGTTCACGCTTATTGTGACAGATGTGAATGAAGCACCTCAATTTTCCCAACACGTATTCCAAGCGAAAGTCAGTGAGGATGT
AGCTATAGGCACTAAAGTGGGCAATGTGACTGCCAAGGATCCAGAAGGTCTGGACATAAGCTATTCACTGAGGGGAGACACAAGAGGTTG
GCTTAAAATTGACCACGTGACTGGTGAGATCTTTAGTGTGGCTCCATTGGACAGAGAAGCCGGAAGTCCATATCGGGTACAAGTGGTGGC
CACAGAAGTAGGGGGGTCTTCCTTGAGCTCTGTGTCAGAGTTCCACCTGATCCTTATGGATGTGAATGACAACCCTCCCAGGCTAGCCAA
GGACTACACGGGCTTGTTCTTCTGCCATCCCCTCAGTGCACCTGGAAGTCTCATTTTCGAGGCTACTGATGATGATCAGCACTTATTTCG
GGGTCCCCATTTTACATTTTCCCTCGGCAGTGGAAGCTTACAAAACGACTGGGAAGTTTCCAAAATCAATGGTACTCATGCCCGACTGTC
TACCAGGCACACAGAGTTTGAGGAGAGGGAGTATGTCGTCTTGATCCGCATCAATGATGGGGGTCGGCCACCCTTGGAAGGCATTGTTTC
TTTACCAGTTACATTCTGCAGTTGTGTGGAAGGAAGTTGTTTCCGGCCAGCAGGTCACCAGACTGGGATACCCACTGTGGGCATGGCAGT
TGGTATACTGCTGACCACCCTTCTGGTGATTGGTATAATTTTAGCAGTTGTGTTTATCCGCATAAAGAAGGATAAAGGCAAAGATAATGT
TGAAAGTGCTCAAGCATCTGAAGTCAAACCTCTGAGAAGCTGAATTTGAAAAGGAATGTTTGAATTTATATAGCAAGTGCTATTTCAGCA
ACAACCATCTCATCCTATTACTTTTCATCTAACGTGCATTATAATTTTTTAAACAGATATTCCCTCTTGTCCTTTAATATTTGCTAAATA
TTTCTTTTTTGAGGTGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCCCAGCTCACTGCAACCTCCGCCTCCTGGGTT
CACATGATTCTCCTGCCTCAGCTTCCTAAGTAGCTGGGTTTACAGGCACCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGA
CGGGGTTTCGCCATTTGGCCAGGCTGGTCTTGAACTCCTGACGTCAAGTGATCTGCCTGCCTTGGTCTCCCAATACAGGCATGAACCACT
GCACCCACCTACTTAGATATTTCATGTGCTATAGACATTAGAGAGATTTTTCATTTTTCCATGACATTTTTCCTCTCTGCAAATGGCTTA
GCTACTTGTGTTTTTCCCTTTTGGGGCAAGACAGACTCATTAAATATTCTGTACATTTTTTCTTTATCAAGGAGATATATCAGTGTTGTC
TCATAGAACTGCCTGGATTCCATTTATGTTTTTTCTGATTCCATCCTGTGTCCCCTTCATCCTTGACTCCTTTGGTATTTCACTGAATTT
CAAACATTTGTCAGAGAAGAAAAACGTGAGGACTCAGGAAAAATAAATAAATAAAAGAACAGCCTTTTCCCTTAGTATTAACAGAAATGT
TTCTGTGTCATTAACCATCTTTAATCAATGTGACATGTTGCTCTTTGGCTGAAATTCTTCAACTTGGAAATGACACAGACCCACAGAAGG
TGTTCAAACACAACCTACTCTGCAAACCTTGGTAAAGGAACCAGTCAGCTGGCCAGATTTCCTCACTACCTGCCATGCATACATGCTGCG
CATGTTTTCTTCATTCGTATGTTAGTAAAGTTTTGGTTATTATATATTTAACATGTGGAAGAAAACAAGACATGAAAAGAGTGGTGACAA

>98266_98266_13_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000441350_CDH17_chr8_95189949_ENST00000027335_length(amino acids)=879AA_BP=88
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQFKANPPAVTFELTGETDNIFVIEREGLLYYNRALDRETRSTHNLQVAALDANGIIVEGPVPITIKVKDINDNRPTFLQSKYEG
SVRQNSRPGKPFLYVNATDLDDPATPNGQLYYQIVIQLPMINNVMYFQINNKTGAISLTREGSQELNPAKNPSYNLVISVKDMGGQSENS
FSDTTSVDIIVTENIWKAPKPVEMVENSTDPHPIKITQVRWNDPGAQYSLVDKEKLPRFPFSIDQEGDIYVTQPLDREEKDAYVFYAVAK
DEYGKPLSYPLEIHVKVKDINDNPPTCPSPVTVFEVQENERLGNSIGTLTAHDRDEENTANSFLNYRIVEQTPKLPMDGLFLIQTYAGML
QLAKQSLKKQDTPQYNLTIEVSDKDFKTLCFVQINVIDINDQIPIFEKSDYGNLTLAEDTNIGSTILTIQATDADEPFTGSSKILYHIIK
GDSEGRLGVDTDPHTNTGYVIIKKPLDFETAAVSNIVFKAENPEPLVFGVKYNASSFAKFTLIVTDVNEAPQFSQHVFQAKVSEDVAIGT
KVGNVTAKDPEGLDISYSLRGDTRGWLKIDHVTGEIFSVAPLDREAGSPYRVQVVATEVGGSSLSSVSEFHLILMDVNDNPPRLAKDYTG
LFFCHPLSAPGSLIFEATDDDQHLFRGPHFTFSLGSGSLQNDWEVSKINGTHARLSTRHTEFEEREYVVLIRINDGGRPPLEGIVSLPVT

--------------------------------------------------------------
>98266_98266_14_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000441350_CDH17_chr8_95189949_ENST00000441892_length(transcript)=2355nt_BP=394nt
ACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGACTTCGACTC
CTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCT
ACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCAC
TTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTAT
GGAATGCATTTTGAAACTTAAGGATGGGATACAGTTTAAGGCCAATCCTCCTGCTGTGACTTTTGAACTAACTGGGGAGACAGACAACAT
ATTTGTGATAGAACGGGAGGGACTTCTGTATTACAACAGAGCCTTGGACAGGGAAACAAGATCTACTCACAATCTCCAGGTTGCAGCCCT
GGACGCTAATGGAATTATAGTGGAGGGTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGACAATCGACCCACGTTTCTCCAGTC
AAAGTACGAAGGCTCAGTAAGGCAGAACTCTCGCCCAGGTAACAGTATCGGGACCCTTACTGCACATGACAGGGATGAAGAAAATACTGC
CAACAGTTTTCTAAACTACAGGATTGTGGAGCAAACTCCCAAACTTCCCATGGATGGACTCTTCCTAATCCAAACCTATGCTGGAATGTT
ACAGTTAGCTAAACAGTCCTTGAAGAAGCAAGATACTCCTCAGTACAACTTAACGATAGAGGTGTCTGACAAAGATTTCAAGACCCTTTG
TTTTGTGCAAATCAACGTTATTGATATCAATGATCAGATCCCCATCTTTGAAAAATCAGATTATGGAAACCTGACTCTTGCTGAAGACAC
AAACATTGGGTCCACCATCTTAACCATCCAGGCCACTGATGCTGATGAGCCATTTACTGGGAGTTCTAAAATTCTGTATCATATCATAAA
GGGAGACAGTGAGGGACGCCTGGGGGTTGACACAGATCCCCATACCAACACCGGATATGTCATAATTAAAAAGCCTCTTGATTTTGAAAC
AGCAGCTGTTTCCAACATTGTGTTCAAAGCAGAAAATCCTGAGCCTCTAGTGTTTGGTGTGAAGTACAATGCAAGTTCTTTTGCCAAGTT
CACGCTTATTGTGACAGATGTGAATGAAGCACCTCAATTTTCCCAACACGTATTCCAAGCGAAAGTCAGTGAGGATGTAGCTATAGGCAC
TAAAGTGGGCAATGTGACTGCCAAGGATCCAGAAGGTCTGGACATAAGCTATTCACTGAGGGGAGACACAAGAGGTTGGCTTAAAATTGA
CCACGTGACTGGTGAGATCTTTAGTGTGGCTCCATTGGACAGAGAAGCCGGAAGTCCATATCGGGTACAAGTGGTGGCCACAGAAGTAGG
GGGGTCTTCCTTGAGCTCTGTGTCAGAGTTCCACCTGATCCTTATGGATGTGAATGACAACCCTCCCAGGCTAGCCAAGGACTACACGGG
CTTGTTCTTCTGCCATCCCCTCAGTGCACCTGGAAGTCTCATTTTCGAGGCTACTGATGATGATCAGCACTTATTTCGGGGTCCCCATTT
TACATTTTCCCTCGGCAGTGGAAGCTTACAAAACGACTGGGAAGTTTCCAAAATCAATGGTACTCATGCCCGACTGTCTACCAGGCACAC
AGAGTTTGAGGAGAGGGAGTATGTCGTCTTGATCCGCATCAATGATGGGGGTCGGCCACCCTTGGAAGGCATTGTTTCTTTACCAGGTAT
AATTTTAGCAGTTGTGTTTATCCGCATAAAGAAGGATAAAGGCAAAGATAATGTTGAAAGTGCTCAAGCATCTGAAGTCAAACCTCTGAG
AAGCTGAATTTGAAAAGGAATGTTTGAATTTATATAGCAAGTGCTATTTCAGCAACAACCATCTCATCCTATTACTTTTCATCTAACGTG
CATTATAATTTTTTAAACAGATATTCCCTCTTGTCCTTTAATATTTGCTAAATATTTCTTTTTTGAGGTGGAGTCTTGCTCTGTCGCCCA
GGCTGGAGTACAGTGGTGTGATCCCAGCTCACTGCAACCTCCGCCTCCTGGGTTCACATGATTCTCCTGCCTCAGCTTCCTAAGTAGCTG
GGTTTACAGGCACCCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCGCCATTTGGCCAGGCTGGTCTTGAACT

>98266_98266_14_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000441350_CDH17_chr8_95189949_ENST00000441892_length(amino acids)=627AA_BP=88
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQFKANPPAVTFELTGETDNIFVIEREGLLYYNRALDRETRSTHNLQVAALDANGIIVEGPVPITIKVKDINDNRPTFLQSKYEG
SVRQNSRPGNSIGTLTAHDRDEENTANSFLNYRIVEQTPKLPMDGLFLIQTYAGMLQLAKQSLKKQDTPQYNLTIEVSDKDFKTLCFVQI
NVIDINDQIPIFEKSDYGNLTLAEDTNIGSTILTIQATDADEPFTGSSKILYHIIKGDSEGRLGVDTDPHTNTGYVIIKKPLDFETAAVS
NIVFKAENPEPLVFGVKYNASSFAKFTLIVTDVNEAPQFSQHVFQAKVSEDVAIGTKVGNVTAKDPEGLDISYSLRGDTRGWLKIDHVTG
EIFSVAPLDREAGSPYRVQVVATEVGGSSLSSVSEFHLILMDVNDNPPRLAKDYTGLFFCHPLSAPGSLIFEATDDDQHLFRGPHFTFSL

--------------------------------------------------------------
>98266_98266_15_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000441350_CDH17_chr8_95189949_ENST00000450165_length(transcript)=2743nt_BP=394nt
ACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGACTTCGACTC
CTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCT
ACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCAC
TTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTAT
GGAATGCATTTTGAAACTTAAGGATGGGATACAGTTTAAGGCCAATCCTCCTGCTGTGACTTTTGAACTAACTGGGGAGACAGACAACAT
ATTTGTGATAGAACGGGAGGGACTTCTGTATTACAACAGAGCCTTGGACAGGGAAACAAGATCTACTCACAATCTCCAGGTTGCAGCCCT
GGACGCTAATGGAATTATAGTGGAGGGTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGACAATCGACCCACGTTTCTCCAGTC
AAAGTACGAAGGCTCAGTAAGGCAGAACTCTCGCCCAGGAAAGCCCTTCTTGTATGTCAATGCCACAGACCTGGATGATCCGGCCACTCC
CAATGGCCAGCTTTATTACCAGATTGTCATCCAGCTTCCCATGATCAACAATGTCATGTACTTTCAGATCAACAACAAAACGGGAGCCAT
CTCTCTTACCCGAGAGGGATCTCAGGAATTGAATCCTGCTAAGAATCCTTCCTATAATCTGGTGATCTCAGTGAAGGACATGGGAGGCCA
GAGTGAGAATTCCTTCAGTGATACCACATCTGTGGATATCATAGTGACAGAGAATATTTGGAAAGCACCAAAACCTGTGGAGATGGTGGA
AAACTCAACTGATCCTCACCCCATCAAAATCACTCAGGTGCGGTGGAATGATCCCGGTGCACAATATTCCTTAGTTGACAAAGAGAAGCT
GCCAAGATTCCCATTTTCAATTGACCAGGAAGGAGATATTTACGTGACTCAGCCCTTGGACCGAGAAGAAAAGGATGCATATGTTTTTTA
TGCAGTTGCAAAGGATGAGTACGGAAAACCACTTTCATATCCGCTGGAAATTCATGTAAAAGTTAAAGATATTAATGATAATCCACCTAC
ATGTCCGTCACCAGTAACCGTATTTGAGGTCCAGGAGAATGAACGACTGGGTAACAGTATCGGGACCCTTACTGCACATGACAGGGATGA
AGAAAATACTGCCAACAGTTTTCTAAACTACAGGATTGTGGAGCAAACTCCCAAACTTCCCATGGATGGACTCTTCCTAATCCAAACCTA
TGCTGGAATGTTACAGTTAGCTAAACAGTCCTTGAAGAAGCAAGATACTCCTCAGTACAACTTAACGATAGAGGTGTCTGACAAAGATTT
CAAGACCCTTTGTTTTGTGCAAATCAACGTTATTGATATCAATGATCAGATCCCCATCTTTGAAAAATCAGATTATGGAAACCTGACTCT
TGCTGAAGACACAAACATTGGGTCCACCATCTTAACCATCCAGGCCACTGATGCTGATGAGCCATTTACTGGGAGTTCTAAAATTCTGTA
TCATATCATAAAGGGAGACAGTGAGGGACGCCTGGGGGTTGACACAGATCCCCATACCAACACCGGATATGTCATAATTAAAAAGCCTCT
TGATTTTGAAACAGCAGCTGTTTCCAACATTGTGTTCAAAGCAGAAAATCCTGAGCCTCTAGTGTTTGGTGTGAAGTACAATGCAAGTTC
TTTTGCCAAGTTCACGCTTATTGTGACAGATGTGAATGAAGCACCTCAATTTTCCCAACACGTATTCCAAGCGAAAGTCAGTGAGGATGT
AGCTATAGGCACTAAAGTGGGCAATGTGACTGCCAAGGATCCAGAAGGTCTGGACATAAGCTATTCACTGAGGGGAGACACAAGAGGTTG
GCTTAAAATTGACCACGTGACTGGTGAGATCTTTAGTGTGGCTCCATTGGACAGAGAAGCCGGAAGTCCATATCGGGTACAAGTGGTGGC
CACAGAAGTAGGGGGGTCTTCCTTGAGCTCTGTGTCAGAGTTCCACCTGATCCTTATGGATGTGAATGACAACCCTCCCAGGCTAGCCAA
GGACTACACGGGCTTGTTCTTCTGCCATCCCCTCAGTGCACCTGGAAGTCTCATTTTCGAGGCTACTGATGATGATCAGCACTTATTTCG
GGGTCCCCATTTTACATTTTCCCTCGGCAGTGGAAGCTTACAAAACGACTGGGAAGTTTCCAAAATCAATGGTACTCATGCCCGACTGTC
TACCAGGCACACAGAGTTTGAGGAGAGGGAGTATGTCGTCTTGATCCGCATCAATGATGGGGGTCGGCCACCCTTGGAAGGCATTGTTTC
TTTACCAGTTACATTCTGCAGTTGTGTGGAAGGAAGTTGTTTCCGGCCAGCAGGTCACCAGACTGGGATACCCACTGTGGGCATGGCAGT
TGGTATACTGCTGACCACCCTTCTGGTGATTGGTATAATTTTAGCAGTTGTGTTTATCCGCATAAAGAAGGATAAAGGCAAAGATAATGT

>98266_98266_15_VPS13B-CDH17_VPS13B_chr8_100050794_ENST00000441350_CDH17_chr8_95189949_ENST00000450165_length(amino acids)=880AA_BP=88
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQFKANPPAVTFELTGETDNIFVIEREGLLYYNRALDRETRSTHNLQVAALDANGIIVEGPVPITIKVKDINDNRPTFLQSKYEG
SVRQNSRPGKPFLYVNATDLDDPATPNGQLYYQIVIQLPMINNVMYFQINNKTGAISLTREGSQELNPAKNPSYNLVISVKDMGGQSENS
FSDTTSVDIIVTENIWKAPKPVEMVENSTDPHPIKITQVRWNDPGAQYSLVDKEKLPRFPFSIDQEGDIYVTQPLDREEKDAYVFYAVAK
DEYGKPLSYPLEIHVKVKDINDNPPTCPSPVTVFEVQENERLGNSIGTLTAHDRDEENTANSFLNYRIVEQTPKLPMDGLFLIQTYAGML
QLAKQSLKKQDTPQYNLTIEVSDKDFKTLCFVQINVIDINDQIPIFEKSDYGNLTLAEDTNIGSTILTIQATDADEPFTGSSKILYHIIK
GDSEGRLGVDTDPHTNTGYVIIKKPLDFETAAVSNIVFKAENPEPLVFGVKYNASSFAKFTLIVTDVNEAPQFSQHVFQAKVSEDVAIGT
KVGNVTAKDPEGLDISYSLRGDTRGWLKIDHVTGEIFSVAPLDREAGSPYRVQVVATEVGGSSLSSVSEFHLILMDVNDNPPRLAKDYTG
LFFCHPLSAPGSLIFEATDDDQHLFRGPHFTFSLGSGSLQNDWEVSKINGTHARLSTRHTEFEEREYVVLIRINDGGRPPLEGIVSLPVT

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for VPS13B-CDH17

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

Related Drugs for VPS13B-CDH17

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

Related Diseases for VPS13B-CDH17

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source