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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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Fusion gene ID: 41544

FusionGeneSummary for VPS13C_HERC1

check button Fusion gene summary
Fusion gene informationFusion gene name: VPS13C_HERC1
Fusion gene ID: 41544
HgeneTgene
Gene symbol

VPS13C

HERC1

Gene ID

54832

8925

Gene namevacuolar protein sorting 13 homolog CHECT and RLD domain containing E3 ubiquitin protein ligase family member 1
SynonymsPARK23MDFPMR|p532|p619
Cytomap

15q22.2

15q22.31

Type of geneprotein-codingprotein-coding
Descriptionvacuolar protein sorting-associated protein 13Cprobable E3 ubiquitin-protein ligase HERC1HECT domain and RCC1-like domain-containing protein 1HECT-type E3 ubiquitin transferase HERC1guanine nucleotide exchange factor p532hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC
Modification date2018052320180519
UniProtAcc

Q709C8

Q15751

Ensembl transtripts involved in fusion geneENST00000249837, ENST00000261517, 
ENST00000395896, ENST00000395898, 
ENST00000558919, 
ENST00000443617, 
Fusion gene scores* DoF score13 X 13 X 7=11838 X 8 X 5=320
# samples 138
** MAII scorelog2(13/1183*10)=-3.18586654531133
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/320*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: VPS13C [Title/Abstract] AND HERC1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVSTADTCGA-FP-8631-01AVPS13Cchr15

62232846

-HERC1chr15

63904755

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000249837ENST00000443617VPS13Cchr15

62232846

-HERC1chr15

63904755

-
In-frameENST00000261517ENST00000443617VPS13Cchr15

62232846

-HERC1chr15

63904755

-
In-frameENST00000395896ENST00000443617VPS13Cchr15

62232846

-HERC1chr15

63904755

-
In-frameENST00000395898ENST00000443617VPS13Cchr15

62232846

-HERC1chr15

63904755

-
intron-3CDSENST00000558919ENST00000443617VPS13Cchr15

62232846

-HERC1chr15

63904755

-

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FusionProtFeatures for VPS13C_HERC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
VPS13C

Q709C8

HERC1

Q15751

Necessary for proper mitochondrial function andmaintenance of mitochondrial transmembrane potential. Involved inthe regulation of PINK1/PRKN-mediated mitophagy in response tomitochondrial depolarization. {ECO:0000269|PubMed:26942284}. Involved in membrane trafficking via some guaninenucleotide exchange factor (GEF) activity and its ability to bindclathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDPfor free GTP. Binds phosphatidylinositol 4,5-bisphosphate, whichis required for GEF activity. May also act as a E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directlytransfers the ubiquitin to targeted substrates.{ECO:0000269|PubMed:15642342, ECO:0000269|PubMed:8861955,ECO:0000269|PubMed:9233772}.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneVPS13Cchr15:62232846chr15:63904755ENST00000249837-4583145_17918243711Compositional biasLys-rich
HgeneVPS13Cchr15:62232846chr15:63904755ENST00000261517-4785145_17918673754Compositional biasLys-rich
HgeneVPS13Cchr15:62232846chr15:63904755ENST00000395896-4782145_17918673629Compositional biasLys-rich
HgeneVPS13Cchr15:62232846chr15:63904755ENST00000395898-4580145_17918243586Compositional biasLys-rich

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-75781349_137846984862Compositional biasNote=Glu-rich
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-75782002_219346984862DomainB30.2/SPRY
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-75784501_484846984862DomainHECT
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-75783426_346546984862RepeatNote=WD 1
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-75783484_352246984862RepeatNote=WD 2
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-75783524_357246984862RepeatNote=WD 3
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-75783580_361946984862RepeatNote=WD 4
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-75783624_366346984862RepeatNote=WD 5
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-75783667_371346984862RepeatNote=WD 6
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-7578371_42046984862RepeatNote=RCC1 1
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-75783745_378446984862RepeatNote=WD 7
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-75783996_404446984862RepeatNote=RCC1 8
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-75784046_409946984862RepeatNote=RCC1 9
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-75784101_415146984862RepeatNote=RCC1 10
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-75784153_420346984862RepeatNote=RCC1 11
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-75784205_425646984862RepeatNote=RCC1 12
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-7578421_47546984862RepeatNote=RCC1 2
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-75784258_430846984862RepeatNote=RCC1 13
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-75784310_436046984862RepeatNote=RCC1 14
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-7578476_52846984862RepeatNote=RCC1 3
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-7578529_57846984862RepeatNote=RCC1 4
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-7578580_63146984862RepeatNote=RCC1 5
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-7578633_68246984862RepeatNote=RCC1 6
TgeneHERC1chr15:62232846chr15:63904755ENST00000443617-7578683_73546984862RepeatNote=RCC1 7


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FusionGeneSequence for VPS13C_HERC1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_VPS13C_ENST00000249837_chr15_62232846_-_HERC1_ENST00000443617_chr15_63904755_-_1988aa
MVLESVVADLLNRFLGDYVENLNKSQLKLGIWGGNVALDNLQIKENALSELDVPFKVKAGQIDKLTLKIPWKNLYGEAVVATLEGLYLLV
VPGASIKYDAVKEEKSLQDVKQKELSRIEEALQKAAEKDKPKEAKKDTFVEKLATQVIKNVQVKITDIHIKYEDDVTDPKRPLSFGVTLG
ELSLLTANEHWTPCILNEADKIIYKLIRLDSLSAYWNVNCSMSYQRSREQILDQLKNEILTSGNIPPNYQYIFQPISASAKLYMNPYAES
ELKTPKLDCNIEIQNIAIELTKPQYLSMIDLLESVDYMVRNAPYRKYKPYLPLHTNGRRWWKYAIDSVLEVHIRRYTQMWSWSNIKKHRQ
LLKSYKIAYKNKLTQSKVSEEIQKEIQDLEKTLDVFNIILARQQAQVEVIRSGQKLRKKSADTGEKRGGWFSGLWGKKESKKKDEESLIP
ETIDDLMTPEEKDKLFTAIGYSESTHNLTLPKQYVAHIMTLKLVSTSVTIRENKNIPEILKIQIIGLGTQVSQRPGAQALKVEAKLEHWY
ITGLRQQDIVPSLVASIGDTTSSLLKIKFETNPEDSPADQTLIVQSQPVEVIYDAKTVNAVVEFFQSNKGLDLEQITSATLMKLEEIKER
TATGLTHIIETRKVLDLRINLKPSYLVVPQTGFHHEKSDLLILDFGTFQLNSKDQGLQKTTNSSLEEIMDKAYDKFDVEIKNVQLLFARA
EETWKKCRFQHPSTMHILQPMDIHVELAKAMVEKDIRMARFKVSGGLPLMHVRISDQKMKDVLYLMNSIPLPQKSSAQSPERQVSSIPII
SGGTKGLLGTSLLLDTVESESDDEYFDAEDGEPQTCKSMKGSELKKAAEVPNEELINLLLKFEIKEVILEFTKQQKEEDTILVFNVTQLG
TEATMRTFDLTVVSYLKKISLDYHEIEGSKRKPLHLISSSDKPGLDLLKVEYIKADKNGPSFQTAFGKTEQTVKVAFSSLNLLLQTQALV
ASINYLTTIIPSDDQSISVAKEVQISTEKQQKNSTLPKAIVSSRDSDIIDFRLFAKLNAFCVIVCNEKNNIAEIKIQGLDSSLSLQSRKQ
SLFARLENIIVTDVDPKTVHKKAVSIMGNEVFRFNLDLYPDATEGDLYTDMSKVDGVLSLNVGCIQIVYLHKFLMSLLNFLNNFQTAKES
LSAATAQAAERAATSVKDLAQRSFRVSINIDLKAPVIVIPQSSISTNAVVVDLGLIRVHNQFSLVSDEDYLNPPVIDRMDVQLTKLTLYR
TVIQPGIYHPDIQLLHPINLEFLVNRNLAASWYHKVPVVEIKGHLDSMNVSLNQEDLNLLFRILTENLCEGTEDLDKVKPRVQETGEIKE
PLEISISQDVHDSKNTLTTGVEEIRSVDIINMLLNFEIKEVVVTLMKKSEKKGRPLHELNVLQLGMEAKVKTYDMTAKAYLKKISMQCFD
FTDSKGEPLHIINSSNVTDEPLLKMLLTKADSDGPEFKTIHDSTKQRLKVSFASLDLVLHLEALLSFMDFLSSAAPFSEPSSSEKESELK
PLVGESRSIAVKAVSSNISQKDVFDLKITAELNAFNVFVCDQKCNIADIKIHGMDASISVKPKQTDVFARLKDIIVMNVDLQSIHKKAVS
ILGDEVFRFQLTLYPDATEGEAYADMSKVDGKLSFKVGCIQIVYVHKFFMSLLNFLNNFQTAKEALSTATVQAAERAASSMKDLAQKSFR
LLMDINLKAPVIIIPQSSVSPNAVIADLGLIRVENKFSLVPMEHYSLPPVIDKMNIELTQLKLSRTILQASLPQNDIEILKPVNMLLSIQ
RNLAAAWYVQIPGMEIKGKLKPMQVAAVREGMSWIVPVPLLSLLTAKQLEQMVCGMPEISVEVLKKVVRYREVDEQHQLVQWFWHTLEEF
SNEERVLFMRFVSGRSRLPANTADISQRFQIMKVDRPYDSLPTSQTCFFQLRLPPYSSQLVMAERLRYAINNCRSIDMDNYMLSRNVDNA

>In-frame_VPS13C_ENST00000261517_chr15_62232846_-_HERC1_ENST00000443617_chr15_63904755_-_2031aa
MVLESVVADLLNRFLGDYVENLNKSQLKLGIWGGNVALDNLQIKENALSELDVPFKVKAGQIDKLTLKIPWKNLYGEAVVATLEGLYLLV
VPGASIKYDAVKEEKSLQDVKQKELSRIEEALQKAAEKGTHSGEFIYGLENFVYKDIKPGRKRKKHKKHFKKPFKGLDRSKDKPKEAKKD
TFVEKLATQVIKNVQVKITDIHIKYEDDVTDPKRPLSFGVTLGELSLLTANEHWTPCILNEADKIIYKLIRLDSLSAYWNVNCSMSYQRS
REQILDQLKNEILTSGNIPPNYQYIFQPISASAKLYMNPYAESELKTPKLDCNIEIQNIAIELTKPQYLSMIDLLESVDYMVRNAPYRKY
KPYLPLHTNGRRWWKYAIDSVLEVHIRRYTQMWSWSNIKKHRQLLKSYKIAYKNKLTQSKVSEEIQKEIQDLEKTLDVFNIILARQQAQV
EVIRSGQKLRKKSADTGEKRGGWFSGLWGKKESKKKDEESLIPETIDDLMTPEEKDKLFTAIGYSESTHNLTLPKQYVAHIMTLKLVSTS
VTIRENKNIPEILKIQIIGLGTQVSQRPGAQALKVEAKLEHWYITGLRQQDIVPSLVASIGDTTSSLLKIKFETNPEDSPADQTLIVQSQ
PVEVIYDAKTVNAVVEFFQSNKGLDLEQITSATLMKLEEIKERTATGLTHIIETRKVLDLRINLKPSYLVVPQTGFHHEKSDLLILDFGT
FQLNSKDQGLQKTTNSSLEEIMDKAYDKFDVEIKNVQLLFARAEETWKKCRFQHPSTMHILQPMDIHVELAKAMVEKDIRMARFKVSGGL
PLMHVRISDQKMKDVLYLMNSIPLPQKSSAQSPERQVSSIPIISGGTKGLLGTSLLLDTVESESDDEYFDAEDGEPQTCKSMKGSELKKA
AEVPNEELINLLLKFEIKEVILEFTKQQKEEDTILVFNVTQLGTEATMRTFDLTVVSYLKKISLDYHEIEGSKRKPLHLISSSDKPGLDL
LKVEYIKADKNGPSFQTAFGKTEQTVKVAFSSLNLLLQTQALVASINYLTTIIPSDDQSISVAKEVQISTEKQQKNSTLPKAIVSSRDSD
IIDFRLFAKLNAFCVIVCNEKNNIAEIKIQGLDSSLSLQSRKQSLFARLENIIVTDVDPKTVHKKAVSIMGNEVFRFNLDLYPDATEGDL
YTDMSKVDGVLSLNVGCIQIVYLHKFLMSLLNFLNNFQTAKESLSAATAQAAERAATSVKDLAQRSFRVSINIDLKAPVIVIPQSSISTN
AVVVDLGLIRVHNQFSLVSDEDYLNPPVIDRMDVQLTKLTLYRTVIQPGIYHPDIQLLHPINLEFLVNRNLAASWYHKVPVVEIKGHLDS
MNVSLNQEDLNLLFRILTENLCEGTEDLDKVKPRVQETGEIKEPLEISISQDVHDSKNTLTTGVEEIRSVDIINMLLNFEIKEVVVTLMK
KSEKKGRPLHELNVLQLGMEAKVKTYDMTAKAYLKKISMQCFDFTDSKGEPLHIINSSNVTDEPLLKMLLTKADSDGPEFKTIHDSTKQR
LKVSFASLDLVLHLEALLSFMDFLSSAAPFSEPSSSEKESELKPLVGESRSIAVKAVSSNISQKDVFDLKITAELNAFNVFVCDQKCNIA
DIKIHGMDASISVKPKQTDVFARLKDIIVMNVDLQSIHKKAVSILGDEVFRFQLTLYPDATEGEAYADMSKVDGKLSFKVGCIQIVYVHK
FFMSLLNFLNNFQTAKEALSTATVQAAERAASSMKDLAQKSFRLLMDINLKAPVIIIPQSSVSPNAVIADLGLIRVENKFSLVPMEHYSL
PPVIDKMNIELTQLKLSRTILQASLPQNDIEILKPVNMLLSIQRNLAAAWYVQIPGMEIKGKLKPMQVAAVREGMSWIVPVPLLSLLTAK
QLEQMVCGMPEISVEVLKKVVRYREVDEQHQLVQWFWHTLEEFSNEERVLFMRFVSGRSRLPANTADISQRFQIMKVDRPYDSLPTSQTC

>In-frame_VPS13C_ENST00000395896_chr15_62232846_-_HERC1_ENST00000443617_chr15_63904755_-_2031aa
MVLESVVADLLNRFLGDYVENLNKSQLKLGIWGGNVALDNLQIKENALSELDVPFKVKAGQIDKLTLKIPWKNLYGEAVVATLEGLYLLV
VPGASIKYDAVKEEKSLQDVKQKELSRIEEALQKAAEKGTHSGEFIYGLENFVYKDIKPGRKRKKHKKHFKKPFKGLDRSKDKPKEAKKD
TFVEKLATQVIKNVQVKITDIHIKYEDDVTDPKRPLSFGVTLGELSLLTANEHWTPCILNEADKIIYKLIRLDSLSAYWNVNCSMSYQRS
REQILDQLKNEILTSGNIPPNYQYIFQPISASAKLYMNPYAESELKTPKLDCNIEIQNIAIELTKPQYLSMIDLLESVDYMVRNAPYRKY
KPYLPLHTNGRRWWKYAIDSVLEVHIRRYTQMWSWSNIKKHRQLLKSYKIAYKNKLTQSKVSEEIQKEIQDLEKTLDVFNIILARQQAQV
EVIRSGQKLRKKSADTGEKRGGWFSGLWGKKESKKKDEESLIPETIDDLMTPEEKDKLFTAIGYSESTHNLTLPKQYVAHIMTLKLVSTS
VTIRENKNIPEILKIQIIGLGTQVSQRPGAQALKVEAKLEHWYITGLRQQDIVPSLVASIGDTTSSLLKIKFETNPEDSPADQTLIVQSQ
PVEVIYDAKTVNAVVEFFQSNKGLDLEQITSATLMKLEEIKERTATGLTHIIETRKVLDLRINLKPSYLVVPQTGFHHEKSDLLILDFGT
FQLNSKDQGLQKTTNSSLEEIMDKAYDKFDVEIKNVQLLFARAEETWKKCRFQHPSTMHILQPMDIHVELAKAMVEKDIRMARFKVSGGL
PLMHVRISDQKMKDVLYLMNSIPLPQKSSAQSPERQVSSIPIISGGTKGLLGTSLLLDTVESESDDEYFDAEDGEPQTCKSMKGSELKKA
AEVPNEELINLLLKFEIKEVILEFTKQQKEEDTILVFNVTQLGTEATMRTFDLTVVSYLKKISLDYHEIEGSKRKPLHLISSSDKPGLDL
LKVEYIKADKNGPSFQTAFGKTEQTVKVAFSSLNLLLQTQALVASINYLTTIIPSDDQSISVAKEVQISTEKQQKNSTLPKAIVSSRDSD
IIDFRLFAKLNAFCVIVCNEKNNIAEIKIQGLDSSLSLQSRKQSLFARLENIIVTDVDPKTVHKKAVSIMGNEVFRFNLDLYPDATEGDL
YTDMSKVDGVLSLNVGCIQIVYLHKFLMSLLNFLNNFQTAKESLSAATAQAAERAATSVKDLAQRSFRVSINIDLKAPVIVIPQSSISTN
AVVVDLGLIRVHNQFSLVSDEDYLNPPVIDRMDVQLTKLTLYRTVIQPGIYHPDIQLLHPINLEFLVNRNLAASWYHKVPVVEIKGHLDS
MNVSLNQEDLNLLFRILTENLCEGTEDLDKVKPRVQETGEIKEPLEISISQDVHDSKNTLTTGVEEIRSVDIINMLLNFEIKEVVVTLMK
KSEKKGRPLHELNVLQLGMEAKVKTYDMTAKAYLKKISMQCFDFTDSKGEPLHIINSSNVTDEPLLKMLLTKADSDGPEFKTIHDSTKQR
LKVSFASLDLVLHLEALLSFMDFLSSAAPFSEPSSSEKESELKPLVGESRSIAVKAVSSNISQKDVFDLKITAELNAFNVFVCDQKCNIA
DIKIHGMDASISVKPKQTDVFARLKDIIVMNVDLQSIHKKAVSILGDEVFRFQLTLYPDATEGEAYADMSKVDGKLSFKVGCIQIVYVHK
FFMSLLNFLNNFQTAKEALSTATVQAAERAASSMKDLAQKSFRLLMDINLKAPVIIIPQSSVSPNAVIADLGLIRVENKFSLVPMEHYSL
PPVIDKMNIELTQLKLSRTILQASLPQNDIEILKPVNMLLSIQRNLAAAWYVQIPGMEIKGKLKPMQVAAVREGMSWIVPVPLLSLLTAK
QLEQMVCGMPEISVEVLKKVVRYREVDEQHQLVQWFWHTLEEFSNEERVLFMRFVSGRSRLPANTADISQRFQIMKVDRPYDSLPTSQTC

>In-frame_VPS13C_ENST00000395898_chr15_62232846_-_HERC1_ENST00000443617_chr15_63904755_-_1988aa
MVLESVVADLLNRFLGDYVENLNKSQLKLGIWGGNVALDNLQIKENALSELDVPFKVKAGQIDKLTLKIPWKNLYGEAVVATLEGLYLLV
VPGASIKYDAVKEEKSLQDVKQKELSRIEEALQKAAEKDKPKEAKKDTFVEKLATQVIKNVQVKITDIHIKYEDDVTDPKRPLSFGVTLG
ELSLLTANEHWTPCILNEADKIIYKLIRLDSLSAYWNVNCSMSYQRSREQILDQLKNEILTSGNIPPNYQYIFQPISASAKLYMNPYAES
ELKTPKLDCNIEIQNIAIELTKPQYLSMIDLLESVDYMVRNAPYRKYKPYLPLHTNGRRWWKYAIDSVLEVHIRRYTQMWSWSNIKKHRQ
LLKSYKIAYKNKLTQSKVSEEIQKEIQDLEKTLDVFNIILARQQAQVEVIRSGQKLRKKSADTGEKRGGWFSGLWGKKESKKKDEESLIP
ETIDDLMTPEEKDKLFTAIGYSESTHNLTLPKQYVAHIMTLKLVSTSVTIRENKNIPEILKIQIIGLGTQVSQRPGAQALKVEAKLEHWY
ITGLRQQDIVPSLVASIGDTTSSLLKIKFETNPEDSPADQTLIVQSQPVEVIYDAKTVNAVVEFFQSNKGLDLEQITSATLMKLEEIKER
TATGLTHIIETRKVLDLRINLKPSYLVVPQTGFHHEKSDLLILDFGTFQLNSKDQGLQKTTNSSLEEIMDKAYDKFDVEIKNVQLLFARA
EETWKKCRFQHPSTMHILQPMDIHVELAKAMVEKDIRMARFKVSGGLPLMHVRISDQKMKDVLYLMNSIPLPQKSSAQSPERQVSSIPII
SGGTKGLLGTSLLLDTVESESDDEYFDAEDGEPQTCKSMKGSELKKAAEVPNEELINLLLKFEIKEVILEFTKQQKEEDTILVFNVTQLG
TEATMRTFDLTVVSYLKKISLDYHEIEGSKRKPLHLISSSDKPGLDLLKVEYIKADKNGPSFQTAFGKTEQTVKVAFSSLNLLLQTQALV
ASINYLTTIIPSDDQSISVAKEVQISTEKQQKNSTLPKAIVSSRDSDIIDFRLFAKLNAFCVIVCNEKNNIAEIKIQGLDSSLSLQSRKQ
SLFARLENIIVTDVDPKTVHKKAVSIMGNEVFRFNLDLYPDATEGDLYTDMSKVDGVLSLNVGCIQIVYLHKFLMSLLNFLNNFQTAKES
LSAATAQAAERAATSVKDLAQRSFRVSINIDLKAPVIVIPQSSISTNAVVVDLGLIRVHNQFSLVSDEDYLNPPVIDRMDVQLTKLTLYR
TVIQPGIYHPDIQLLHPINLEFLVNRNLAASWYHKVPVVEIKGHLDSMNVSLNQEDLNLLFRILTENLCEGTEDLDKVKPRVQETGEIKE
PLEISISQDVHDSKNTLTTGVEEIRSVDIINMLLNFEIKEVVVTLMKKSEKKGRPLHELNVLQLGMEAKVKTYDMTAKAYLKKISMQCFD
FTDSKGEPLHIINSSNVTDEPLLKMLLTKADSDGPEFKTIHDSTKQRLKVSFASLDLVLHLEALLSFMDFLSSAAPFSEPSSSEKESELK
PLVGESRSIAVKAVSSNISQKDVFDLKITAELNAFNVFVCDQKCNIADIKIHGMDASISVKPKQTDVFARLKDIIVMNVDLQSIHKKAVS
ILGDEVFRFQLTLYPDATEGEAYADMSKVDGKLSFKVGCIQIVYVHKFFMSLLNFLNNFQTAKEALSTATVQAAERAASSMKDLAQKSFR
LLMDINLKAPVIIIPQSSVSPNAVIADLGLIRVENKFSLVPMEHYSLPPVIDKMNIELTQLKLSRTILQASLPQNDIEILKPVNMLLSIQ
RNLAAAWYVQIPGMEIKGKLKPMQVAAVREGMSWIVPVPLLSLLTAKQLEQMVCGMPEISVEVLKKVVRYREVDEQHQLVQWFWHTLEEF
SNEERVLFMRFVSGRSRLPANTADISQRFQIMKVDRPYDSLPTSQTCFFQLRLPPYSSQLVMAERLRYAINNCRSIDMDNYMLSRNVDNA


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_VPS13C_ENST00000249837_chr15_62232846_-_HERC1_ENST00000443617_chr15_63904755_-_5964nt
ATGGTGCTGGAGTCGGTGGTCGCGGACTTGCTGAACCGCTTCCTGGGGGACTATGTGGAGAACCTGAACAAGTCCCAGCTGAAGCTGGGC
ATCTGGGGCGGAAATGTGGCTTTAGATAATCTACAGATAAAAGAAAATGCCCTGAGTGAATTGGATGTTCCTTTTAAAGTCAAGGCTGGC
CAAATTGATAAATTAACTTTGAAGATTCCTTGGAAGAACCTTTATGGAGAAGCAGTTGTTGCGACCCTGGAAGGATTATACCTGCTTGTT
GTCCCTGGAGCAAGTATTAAGTATGATGCTGTAAAAGAAGAAAAATCCTTGCAGGATGTTAAACAGAAAGAGCTATCCCGAATTGAAGAA
GCCCTTCAAAAAGCAGCAGAAAAAGATAAGCCAAAAGAAGCCAAAAAGGATACATTTGTGGAAAAATTGGCAACTCAAGTAATAAAAAAT
GTACAAGTAAAAATCACAGATATTCACATTAAATATGAAGATGATGTCACTGATCCAAAGCGGCCTCTTTCATTTGGTGTCACACTGGGA
GAGCTTAGTCTACTGACTGCAAATGAACACTGGACTCCATGCATATTAAATGAAGCAGACAAAATTATATACAAGCTTATACGACTTGAT
AGTCTTAGCGCCTACTGGAATGTAAATTGCAGCATGTCTTACCAGAGATCAAGGGAACAGATTTTGGATCAGCTGAAAAATGAAATTCTT
ACAAGTGGAAATATACCCCCAAATTATCAATACATTTTCCAGCCAATATCAGCCTCTGCAAAACTCTACATGAATCCTTATGCAGAATCA
GAGCTCAAAACGCCCAAACTGGATTGCAACATAGAAATACAAAATATTGCCATTGAACTGACCAAACCTCAGTACTTAAGTATGATTGAC
CTTTTGGAGTCAGTGGATTATATGGTTAGGAATGCGCCTTATAGGAAATACAAGCCTTATTTACCACTTCATACCAATGGTCGACGATGG
TGGAAATATGCAATTGATTCTGTTCTTGAAGTTCATATAAGAAGGTATACACAGATGTGGTCATGGAGTAACATAAAAAAGCACAGGCAG
TTACTCAAGAGTTATAAAATTGCCTACAAAAACAAGTTAACACAGTCTAAAGTCTCAGAAGAAATACAGAAAGAAATTCAGGACTTGGAG
AAGACTCTAGATGTTTTTAACATAATTTTAGCAAGGCAACAAGCACAAGTTGAGGTGATTCGGTCTGGGCAAAAATTAAGGAAAAAGTCT
GCTGACACAGGCGAGAAACGTGGAGGCTGGTTTAGTGGGTTGTGGGGTAAGAAAGAGTCTAAGAAAAAGGACGAAGAATCATTGATTCCT
GAAACTATTGATGACCTTATGACTCCAGAGGAAAAAGATAAACTCTTCACTGCCATTGGTTATAGTGAGAGTACCCACAACCTAACTTTA
CCTAAGCAGTATGTTGCCCATATTATGACCCTGAAGTTAGTAAGCACCTCTGTTACGATAAGAGAAAACAAGAATATTCCAGAAATACTA
AAAATTCAGATAATTGGCCTGGGCACTCAAGTATCTCAGCGACCAGGAGCACAAGCACTTAAGGTAGAAGCGAAATTAGAACACTGGTAT
ATAACAGGTTTGAGACAGCAGGATATTGTGCCATCACTTGTGGCTTCAATTGGTGACACTACATCATCCTTGCTTAAAATTAAATTTGAA
ACCAATCCGGAGGATAGTCCTGCTGACCAGACTCTGATTGTTCAGTCCCAGCCTGTGGAGGTCATCTATGATGCTAAAACTGTCAATGCA
GTGGTTGAATTCTTTCAATCAAATAAGGGATTGGATCTTGAGCAAATAACATCAGCAACATTGATGAAGCTGGAAGAAATTAAGGAGAGA
ACAGCTACAGGACTTACACATATTATTGAAACTCGAAAAGTCCTTGATTTAAGGATAAATCTGAAGCCTTCTTATCTAGTAGTTCCACAG
ACGGGTTTCCACCATGAAAAGTCAGATCTTCTGATTTTAGATTTTGGTACATTTCAGCTCAACAGTAAAGATCAAGGTTTACAGAAGACT
ACTAATTCATCTCTGGAAGAAATAATGGATAAGGCATATGACAAGTTTGATGTTGAAATAAAAAATGTACAACTACTTTTTGCAAGAGCA
GAGGAAACCTGGAAAAAGTGTCGATTTCAGCATCCATCAACTATGCATATATTGCAACCCATGGATATTCATGTTGAGTTGGCTAAGGCC
ATGGTAGAAAAAGACATTAGAATGGCCAGATTTAAAGTGTCAGGAGGACTTCCTTTGATGCATGTGAGAATTTCTGACCAGAAGATGAAA
GATGTGCTATATTTGATGAACAGTATACCTTTGCCACAGAAATCATCAGCCCAGTCTCCAGAGAGACAGGTATCCTCAATTCCTATTATT
TCAGGTGGTACAAAAGGTCTACTTGGTACTTCACTATTGCTAGACACTGTGGAATCAGAGTCTGATGATGAGTATTTTGATGCTGAAGAT
GGAGAACCACAGACTTGTAAAAGTATGAAAGGATCAGAACTTAAAAAAGCTGCAGAGGTCCCAAATGAGGAGCTCATCAATCTTCTACTC
AAGTTTGAAATTAAAGAAGTGATTTTGGAATTTACTAAACAGCAGAAAGAAGAAGATACAATTCTAGTATTTAATGTTACTCAGTTAGGA
ACAGAGGCCACAATGAGAACATTTGACTTAACTGTGGTATCTTATTTAAAGAAAATCAGCTTGGATTATCATGAAATTGAAGGATCCAAA
AGGAAGCCCCTTCACTTGATTAGCTCTTCTGACAAACCTGGATTAGATCTTTTGAAAGTGGAGTATATTAAGGCTGATAAGAATGGACCT
AGTTTTCAAACTGCTTTTGGAAAAACTGAACAAACAGTTAAGGTGGCCTTTTCATCTTTAAATCTGTTGCTGCAAACACAAGCTCTTGTC
GCTTCTATTAATTACCTCACAACCATTATTCCATCTGATGATCAAAGCATAAGTGTTGCTAAGGAGGTACAAATTTCAACTGAAAAACAA
CAAAAAAATTCAACTCTGCCAAAAGCGATTGTATCCTCCAGAGATAGTGACATTATTGATTTCAGGCTATTTGCCAAGTTGAATGCTTTC
TGTGTCATTGTTTGCAACGAAAAGAACAATATCGCCGAAATCAAGATTCAAGGACTGGATTCCTCCCTTTCTCTCCAGTCAAGAAAGCAG
TCACTTTTTGCCCGACTAGAAAATATTATTGTCACAGATGTTGATCCAAAGACAGTTCATAAGAAAGCTGTGTCAATAATGGGAAATGAA
GTTTTCCGTTTTAATTTGGATTTGTATCCAGATGCTACTGAGGGGGATTTGTATACTGACATGTCCAAAGTGGATGGTGTGCTGTCTCTG
AATGTTGGCTGTATTCAGATTGTCTATCTTCATAAATTCCTTATGTCACTTCTGAACTTCCTGAATAATTTCCAGACAGCCAAAGAGTCT
CTGAGTGCTGCCACTGCCCAGGCTGCAGAAAGGGCTGCCACAAGTGTGAAAGATCTTGCCCAGAGGAGTTTTCGTGTTTCCATCAATATT
GATTTGAAAGCACCGGTTATAGTCATCCCACAGTCTTCTATTTCCACCAATGCAGTAGTGGTAGATCTTGGGTTAATCAGAGTTCATAAT
CAGTTCAGTCTGGTGTCTGATGAAGACTACTTAAATCCTCCAGTAATTGATAGAATGGATGTGCAGCTAACAAAGCTTACACTTTATAGG
ACAGTGATCCAGCCAGGCATCTACCATCCTGATATTCAGCTGTTGCACCCAATTAACTTGGAATTTCTTGTAAATCGGAATCTAGCTGCA
TCTTGGTACCACAAGGTGCCTGTTGTGGAAATTAAAGGACATCTTGATTCAATGAATGTTAGTCTAAATCAAGAAGATCTTAATCTTTTA
TTTAGGATACTAACAGAAAATCTCTGTGAGGGTACTGAAGACTTGGATAAAGTGAAACCAAGAGTACAAGAGACAGGTGAAATTAAAGAG
CCCCTTGAAATCTCTATATCACAAGATGTACATGATTCAAAAAATACTTTAACAACTGGAGTGGAAGAAATTAGGTCTGTAGACATCATT
AATATGCTGCTGAATTTTGAAATTAAAGAGGTTGTGGTTACTTTGATGAAAAAATCAGAAAAGAAAGGAAGGCCTTTACATGAGCTAAAT
GTCCTGCAACTTGGAATGGAAGCTAAAGTTAAAACCTATGACATGACTGCTAAAGCTTATCTAAAAAAAATTAGTATGCAGTGCTTTGAT
TTCACTGACTCTAAAGGGGAACCTCTTCACATTATTAACTCTTCTAATGTGACTGACGAACCCCTTCTGAAAATGTTACTGACAAAGGCA
GACAGTGATGGACCAGAATTTAAAACTATTCATGACAGTACCAAACAGAGACTGAAGGTTTCATTTGCATCCTTAGACTTAGTACTTCAT
TTGGAAGCTTTACTTTCCTTCATGGATTTTTTATCATCTGCTGCTCCATTCTCTGAGCCTTCCTCTTCTGAGAAGGAATCCGAGCTGAAA
CCACTTGTGGGGGAGTCCAGAAGTATCGCTGTCAAAGCTGTATCCAGCAACATTTCCCAAAAGGATGTGTTTGATTTAAAGATCACAGCT
GAATTAAATGCATTTAATGTCTTTGTCTGTGATCAGAAGTGTAACATTGCAGATATTAAAATACATGGAATGGATGCCTCTATTTCTGTG
AAGCCTAAGCAGACTGATGTGTTTGCCAGACTTAAAGATATTATAGTTATGAATGTAGATTTGCAGTCCATTCACAAAAAGGCTGTCTCT
ATTTTGGGAGATGAAGTCTTTAGGTTCCAACTGACTCTTTATCCAGATGCCACAGAAGGAGAGGCCTATGCTGATATGTCCAAAGTAGAC
GGCAAACTTAGTTTTAAAGTGGGTTGTATTCAGATTGTTTATGTTCATAAATTCTTCATGTCTCTTTTGAACTTCCTCAACAATTTCCAA
ACTGCTAAAGAAGCTTTGAGTACAGCCACAGTCCAGGCTGCAGAAAGAGCTGCTTCCAGCATGAAAGACTTGGCTCAAAAGAGTTTCCGC
CTTTTGATGGATATTAATTTGAAAGCACCAGTTATTATTATTCCTCAGTCTTCAGTATCACCTAATGCTGTTATAGCAGATCTGGGTTTA
ATCAGAGTTGAAAACAAGTTTAGCTTGGTTCCTATGGAACATTATTCTCTTCCTCCAGTCATTGATAAAATGAACATCGAACTCACTCAG
TTGAAGCTGTCAAGAACTATTTTGCAGGCTAGCTTGCCACAAAATGACATTGAAATTTTAAAACCAGTCAACATGCTTTTGTCCATACAG
CGAAACTTAGCAGCAGCATGGTATGTGCAAATTCCAGGGATGGAGATAAAAGGAAAACTAAAACCTATGCAGGTGGCTGCAGTCCGAGAA
GGGATGTCCTGGATTGTTCCTGTGCCGCTGCTGTCCCTCCTCACAGCAAAACAACTGGAGCAGATGGTGTGTGGGATGCCCGAGATCTCT
GTGGAAGTCTTGAAGAAAGTGGTGCGGTACCGTGAGGTGGATGAGCAGCATCAGCTGGTGCAGTGGTTCTGGCACACGCTGGAAGAGTTC
TCCAATGAGGAGCGGGTGCTTTTCATGAGGTTTGTGTCAGGAAGATCTCGACTACCAGCCAACACTGCTGACATTTCTCAGAGATTTCAA
ATCATGAAGGTTGATAGGCCTTACGACAGTCTGCCTACCTCACAGACCTGCTTCTTCCAGCTGAGGCTGCCCCCGTACTCCAGCCAGCTG
GTCATGGCCGAGCGCCTGCGCTATGCCATCAACAACTGCCGCTCAATCGACATGGACAACTACATGCTCTCGAGAAACGTGGACAACGCC

>In-frame_VPS13C_ENST00000261517_chr15_62232846_-_HERC1_ENST00000443617_chr15_63904755_-_6093nt
ATGGTGCTGGAGTCGGTGGTCGCGGACTTGCTGAACCGCTTCCTGGGGGACTATGTGGAGAACCTGAACAAGTCCCAGCTGAAGCTGGGC
ATCTGGGGCGGAAATGTGGCTTTAGATAATCTACAGATAAAAGAAAATGCCCTGAGTGAATTGGATGTTCCTTTTAAAGTCAAGGCTGGC
CAAATTGATAAATTAACTTTGAAGATTCCTTGGAAGAACCTTTATGGAGAAGCAGTTGTTGCGACCCTGGAAGGATTATACCTGCTTGTT
GTCCCTGGAGCAAGTATTAAGTATGATGCTGTAAAAGAAGAAAAATCCTTGCAGGATGTTAAACAGAAAGAGCTATCCCGAATTGAAGAA
GCCCTTCAAAAAGCAGCAGAAAAAGGCACACATTCAGGGGAGTTCATATATGGCTTGGAGAACTTTGTTTACAAGGACATCAAGCCTGGA
CGTAAACGTAAAAAGCACAAAAAACATTTTAAGAAACCTTTTAAAGGTCTTGATCGTTCAAAAGATAAGCCAAAAGAAGCCAAAAAGGAT
ACATTTGTGGAAAAATTGGCAACTCAAGTAATAAAAAATGTACAAGTAAAAATCACAGATATTCACATTAAATATGAAGATGATGTCACT
GATCCAAAGCGGCCTCTTTCATTTGGTGTCACACTGGGAGAGCTTAGTCTACTGACTGCAAATGAACACTGGACTCCATGCATATTAAAT
GAAGCAGACAAAATTATATACAAGCTTATACGACTTGATAGTCTTAGCGCCTACTGGAATGTAAATTGCAGCATGTCTTACCAGAGATCA
AGGGAACAGATTTTGGATCAGCTGAAAAATGAAATTCTTACAAGTGGAAATATACCCCCAAATTATCAATACATTTTCCAGCCAATATCA
GCCTCTGCAAAACTCTACATGAATCCTTATGCAGAATCAGAGCTCAAAACGCCCAAACTGGATTGCAACATAGAAATACAAAATATTGCC
ATTGAACTGACCAAACCTCAGTACTTAAGTATGATTGACCTTTTGGAGTCAGTGGATTATATGGTTAGGAATGCGCCTTATAGGAAATAC
AAGCCTTATTTACCACTTCATACCAATGGTCGACGATGGTGGAAATATGCAATTGATTCTGTTCTTGAAGTTCATATAAGAAGGTATACA
CAGATGTGGTCATGGAGTAACATAAAAAAGCACAGGCAGTTACTCAAGAGTTATAAAATTGCCTACAAAAACAAGTTAACACAGTCTAAA
GTCTCAGAAGAAATACAGAAAGAAATTCAGGACTTGGAGAAGACTCTAGATGTTTTTAACATAATTTTAGCAAGGCAACAAGCACAAGTT
GAGGTGATTCGGTCTGGGCAAAAATTAAGGAAAAAGTCTGCTGACACAGGCGAGAAACGTGGAGGCTGGTTTAGTGGGTTGTGGGGTAAG
AAAGAGTCTAAGAAAAAGGACGAAGAATCATTGATTCCTGAAACTATTGATGACCTTATGACTCCAGAGGAAAAAGATAAACTCTTCACT
GCCATTGGTTATAGTGAGAGTACCCACAACCTAACTTTACCTAAGCAGTATGTTGCCCATATTATGACCCTGAAGTTAGTAAGCACCTCT
GTTACGATAAGAGAAAACAAGAATATTCCAGAAATACTAAAAATTCAGATAATTGGCCTGGGCACTCAAGTATCTCAGCGACCAGGAGCA
CAAGCACTTAAGGTAGAAGCGAAATTAGAACACTGGTATATAACAGGTTTGAGACAGCAGGATATTGTGCCATCACTTGTGGCTTCAATT
GGTGACACTACATCATCCTTGCTTAAAATTAAATTTGAAACCAATCCGGAGGATAGTCCTGCTGACCAGACTCTGATTGTTCAGTCCCAG
CCTGTGGAGGTCATCTATGATGCTAAAACTGTCAATGCAGTGGTTGAATTCTTTCAATCAAATAAGGGATTGGATCTTGAGCAAATAACA
TCAGCAACATTGATGAAGCTGGAAGAAATTAAGGAGAGAACAGCTACAGGACTTACACATATTATTGAAACTCGAAAAGTCCTTGATTTA
AGGATAAATCTGAAGCCTTCTTATCTAGTAGTTCCACAGACGGGTTTCCACCATGAAAAGTCAGATCTTCTGATTTTAGATTTTGGTACA
TTTCAGCTCAACAGTAAAGATCAAGGTTTACAGAAGACTACTAATTCATCTCTGGAAGAAATAATGGATAAGGCATATGACAAGTTTGAT
GTTGAAATAAAAAATGTACAACTACTTTTTGCAAGAGCAGAGGAAACCTGGAAAAAGTGTCGATTTCAGCATCCATCAACTATGCATATA
TTGCAACCCATGGATATTCATGTTGAGTTGGCTAAGGCCATGGTAGAAAAAGACATTAGAATGGCCAGATTTAAAGTGTCAGGAGGACTT
CCTTTGATGCATGTGAGAATTTCTGACCAGAAGATGAAAGATGTGCTATATTTGATGAACAGTATACCTTTGCCACAGAAATCATCAGCC
CAGTCTCCAGAGAGACAGGTATCCTCAATTCCTATTATTTCAGGTGGTACAAAAGGTCTACTTGGTACTTCACTATTGCTAGACACTGTG
GAATCAGAGTCTGATGATGAGTATTTTGATGCTGAAGATGGAGAACCACAGACTTGTAAAAGTATGAAAGGATCAGAACTTAAAAAAGCT
GCAGAGGTCCCAAATGAGGAGCTCATCAATCTTCTACTCAAGTTTGAAATTAAAGAAGTGATTTTGGAATTTACTAAACAGCAGAAAGAA
GAAGATACAATTCTAGTATTTAATGTTACTCAGTTAGGAACAGAGGCCACAATGAGAACATTTGACTTAACTGTGGTATCTTATTTAAAG
AAAATCAGCTTGGATTATCATGAAATTGAAGGATCCAAAAGGAAGCCCCTTCACTTGATTAGCTCTTCTGACAAACCTGGATTAGATCTT
TTGAAAGTGGAGTATATTAAGGCTGATAAGAATGGACCTAGTTTTCAAACTGCTTTTGGAAAAACTGAACAAACAGTTAAGGTGGCCTTT
TCATCTTTAAATCTGTTGCTGCAAACACAAGCTCTTGTCGCTTCTATTAATTACCTCACAACCATTATTCCATCTGATGATCAAAGCATA
AGTGTTGCTAAGGAGGTACAAATTTCAACTGAAAAACAACAAAAAAATTCAACTCTGCCAAAAGCGATTGTATCCTCCAGAGATAGTGAC
ATTATTGATTTCAGGCTATTTGCCAAGTTGAATGCTTTCTGTGTCATTGTTTGCAACGAAAAGAACAATATCGCCGAAATCAAGATTCAA
GGACTGGATTCCTCCCTTTCTCTCCAGTCAAGAAAGCAGTCACTTTTTGCCCGACTAGAAAATATTATTGTCACAGATGTTGATCCAAAG
ACAGTTCATAAGAAAGCTGTGTCAATAATGGGAAATGAAGTTTTCCGTTTTAATTTGGATTTGTATCCAGATGCTACTGAGGGGGATTTG
TATACTGACATGTCCAAAGTGGATGGTGTGCTGTCTCTGAATGTTGGCTGTATTCAGATTGTCTATCTTCATAAATTCCTTATGTCACTT
CTGAACTTCCTGAATAATTTCCAGACAGCCAAAGAGTCTCTGAGTGCTGCCACTGCCCAGGCTGCAGAAAGGGCTGCCACAAGTGTGAAA
GATCTTGCCCAGAGGAGTTTTCGTGTTTCCATCAATATTGATTTGAAAGCACCGGTTATAGTCATCCCACAGTCTTCTATTTCCACCAAT
GCAGTAGTGGTAGATCTTGGGTTAATCAGAGTTCATAATCAGTTCAGTCTGGTGTCTGATGAAGACTACTTAAATCCTCCAGTAATTGAT
AGAATGGATGTGCAGCTAACAAAGCTTACACTTTATAGGACAGTGATCCAGCCAGGCATCTACCATCCTGATATTCAGCTGTTGCACCCA
ATTAACTTGGAATTTCTTGTAAATCGGAATCTAGCTGCATCTTGGTACCACAAGGTGCCTGTTGTGGAAATTAAAGGACATCTTGATTCA
ATGAATGTTAGTCTAAATCAAGAAGATCTTAATCTTTTATTTAGGATACTAACAGAAAATCTCTGTGAGGGTACTGAAGACTTGGATAAA
GTGAAACCAAGAGTACAAGAGACAGGTGAAATTAAAGAGCCCCTTGAAATCTCTATATCACAAGATGTACATGATTCAAAAAATACTTTA
ACAACTGGAGTGGAAGAAATTAGGTCTGTAGACATCATTAATATGCTGCTGAATTTTGAAATTAAAGAGGTTGTGGTTACTTTGATGAAA
AAATCAGAAAAGAAAGGAAGGCCTTTACATGAGCTAAATGTCCTGCAACTTGGAATGGAAGCTAAAGTTAAAACCTATGACATGACTGCT
AAAGCTTATCTAAAAAAAATTAGTATGCAGTGCTTTGATTTCACTGACTCTAAAGGGGAACCTCTTCACATTATTAACTCTTCTAATGTG
ACTGACGAACCCCTTCTGAAAATGTTACTGACAAAGGCAGACAGTGATGGACCAGAATTTAAAACTATTCATGACAGTACCAAACAGAGA
CTGAAGGTTTCATTTGCATCCTTAGACTTAGTACTTCATTTGGAAGCTTTACTTTCCTTCATGGATTTTTTATCATCTGCTGCTCCATTC
TCTGAGCCTTCCTCTTCTGAGAAGGAATCCGAGCTGAAACCACTTGTGGGGGAGTCCAGAAGTATCGCTGTCAAAGCTGTATCCAGCAAC
ATTTCCCAAAAGGATGTGTTTGATTTAAAGATCACAGCTGAATTAAATGCATTTAATGTCTTTGTCTGTGATCAGAAGTGTAACATTGCA
GATATTAAAATACATGGAATGGATGCCTCTATTTCTGTGAAGCCTAAGCAGACTGATGTGTTTGCCAGACTTAAAGATATTATAGTTATG
AATGTAGATTTGCAGTCCATTCACAAAAAGGCTGTCTCTATTTTGGGAGATGAAGTCTTTAGGTTCCAACTGACTCTTTATCCAGATGCC
ACAGAAGGAGAGGCCTATGCTGATATGTCCAAAGTAGACGGCAAACTTAGTTTTAAAGTGGGTTGTATTCAGATTGTTTATGTTCATAAA
TTCTTCATGTCTCTTTTGAACTTCCTCAACAATTTCCAAACTGCTAAAGAAGCTTTGAGTACAGCCACAGTCCAGGCTGCAGAAAGAGCT
GCTTCCAGCATGAAAGACTTGGCTCAAAAGAGTTTCCGCCTTTTGATGGATATTAATTTGAAAGCACCAGTTATTATTATTCCTCAGTCT
TCAGTATCACCTAATGCTGTTATAGCAGATCTGGGTTTAATCAGAGTTGAAAACAAGTTTAGCTTGGTTCCTATGGAACATTATTCTCTT
CCTCCAGTCATTGATAAAATGAACATCGAACTCACTCAGTTGAAGCTGTCAAGAACTATTTTGCAGGCTAGCTTGCCACAAAATGACATT
GAAATTTTAAAACCAGTCAACATGCTTTTGTCCATACAGCGAAACTTAGCAGCAGCATGGTATGTGCAAATTCCAGGGATGGAGATAAAA
GGAAAACTAAAACCTATGCAGGTGGCTGCAGTCCGAGAAGGGATGTCCTGGATTGTTCCTGTGCCGCTGCTGTCCCTCCTCACAGCAAAA
CAACTGGAGCAGATGGTGTGTGGGATGCCCGAGATCTCTGTGGAAGTCTTGAAGAAAGTGGTGCGGTACCGTGAGGTGGATGAGCAGCAT
CAGCTGGTGCAGTGGTTCTGGCACACGCTGGAAGAGTTCTCCAATGAGGAGCGGGTGCTTTTCATGAGGTTTGTGTCAGGAAGATCTCGA
CTACCAGCCAACACTGCTGACATTTCTCAGAGATTTCAAATCATGAAGGTTGATAGGCCTTACGACAGTCTGCCTACCTCACAGACCTGC
TTCTTCCAGCTGAGGCTGCCCCCGTACTCCAGCCAGCTGGTCATGGCCGAGCGCCTGCGCTATGCCATCAACAACTGCCGCTCAATCGAC

>In-frame_VPS13C_ENST00000395896_chr15_62232846_-_HERC1_ENST00000443617_chr15_63904755_-_6093nt
ATGGTGCTGGAGTCGGTGGTCGCGGACTTGCTGAACCGCTTCCTGGGGGACTATGTGGAGAACCTGAACAAGTCCCAGCTGAAGCTGGGC
ATCTGGGGCGGAAATGTGGCTTTAGATAATCTACAGATAAAAGAAAATGCCCTGAGTGAATTGGATGTTCCTTTTAAAGTCAAGGCTGGC
CAAATTGATAAATTAACTTTGAAGATTCCTTGGAAGAACCTTTATGGAGAAGCAGTTGTTGCGACCCTGGAAGGATTATACCTGCTTGTT
GTCCCTGGAGCAAGTATTAAGTATGATGCTGTAAAAGAAGAAAAATCCTTGCAGGATGTTAAACAGAAAGAGCTATCCCGAATTGAAGAA
GCCCTTCAAAAAGCAGCAGAAAAAGGCACACATTCAGGGGAGTTCATATATGGCTTGGAGAACTTTGTTTACAAGGACATCAAGCCTGGA
CGTAAACGTAAAAAGCACAAAAAACATTTTAAGAAACCTTTTAAAGGTCTTGATCGTTCAAAAGATAAGCCAAAAGAAGCCAAAAAGGAT
ACATTTGTGGAAAAATTGGCAACTCAAGTAATAAAAAATGTACAAGTAAAAATCACAGATATTCACATTAAATATGAAGATGATGTCACT
GATCCAAAGCGGCCTCTTTCATTTGGTGTCACACTGGGAGAGCTTAGTCTACTGACTGCAAATGAACACTGGACTCCATGCATATTAAAT
GAAGCAGACAAAATTATATACAAGCTTATACGACTTGATAGTCTTAGCGCCTACTGGAATGTAAATTGCAGCATGTCTTACCAGAGATCA
AGGGAACAGATTTTGGATCAGCTGAAAAATGAAATTCTTACAAGTGGAAATATACCCCCAAATTATCAATACATTTTCCAGCCAATATCA
GCCTCTGCAAAACTCTACATGAATCCTTATGCAGAATCAGAGCTCAAAACGCCCAAACTGGATTGCAACATAGAAATACAAAATATTGCC
ATTGAACTGACCAAACCTCAGTACTTAAGTATGATTGACCTTTTGGAGTCAGTGGATTATATGGTTAGGAATGCGCCTTATAGGAAATAC
AAGCCTTATTTACCACTTCATACCAATGGTCGACGATGGTGGAAATATGCAATTGATTCTGTTCTTGAAGTTCATATAAGAAGGTATACA
CAGATGTGGTCATGGAGTAACATAAAAAAGCACAGGCAGTTACTCAAGAGTTATAAAATTGCCTACAAAAACAAGTTAACACAGTCTAAA
GTCTCAGAAGAAATACAGAAAGAAATTCAGGACTTGGAGAAGACTCTAGATGTTTTTAACATAATTTTAGCAAGGCAACAAGCACAAGTT
GAGGTGATTCGGTCTGGGCAAAAATTAAGGAAAAAGTCTGCTGACACAGGCGAGAAACGTGGAGGCTGGTTTAGTGGGTTGTGGGGTAAG
AAAGAGTCTAAGAAAAAGGACGAAGAATCATTGATTCCTGAAACTATTGATGACCTTATGACTCCAGAGGAAAAAGATAAACTCTTCACT
GCCATTGGTTATAGTGAGAGTACCCACAACCTAACTTTACCTAAGCAGTATGTTGCCCATATTATGACCCTGAAGTTAGTAAGCACCTCT
GTTACGATAAGAGAAAACAAGAATATTCCAGAAATACTAAAAATTCAGATAATTGGCCTGGGCACTCAAGTATCTCAGCGACCAGGAGCA
CAAGCACTTAAGGTAGAAGCGAAATTAGAACACTGGTATATAACAGGTTTGAGACAGCAGGATATTGTGCCATCACTTGTGGCTTCAATT
GGTGACACTACATCATCCTTGCTTAAAATTAAATTTGAAACCAATCCGGAGGATAGTCCTGCTGACCAGACTCTGATTGTTCAGTCCCAG
CCTGTGGAGGTCATCTATGATGCTAAAACTGTCAATGCAGTGGTTGAATTCTTTCAATCAAATAAGGGATTGGATCTTGAGCAAATAACA
TCAGCAACATTGATGAAGCTGGAAGAAATTAAGGAGAGAACAGCTACAGGACTTACACATATTATTGAAACTCGAAAAGTCCTTGATTTA
AGGATAAATCTGAAGCCTTCTTATCTAGTAGTTCCACAGACGGGTTTCCACCATGAAAAGTCAGATCTTCTGATTTTAGATTTTGGTACA
TTTCAGCTCAACAGTAAAGATCAAGGTTTACAGAAGACTACTAATTCATCTCTGGAAGAAATAATGGATAAGGCATATGACAAGTTTGAT
GTTGAAATAAAAAATGTACAACTACTTTTTGCAAGAGCAGAGGAAACCTGGAAAAAGTGTCGATTTCAGCATCCATCAACTATGCATATA
TTGCAACCCATGGATATTCATGTTGAGTTGGCTAAGGCCATGGTAGAAAAAGACATTAGAATGGCCAGATTTAAAGTGTCAGGAGGACTT
CCTTTGATGCATGTGAGAATTTCTGACCAGAAGATGAAAGATGTGCTATATTTGATGAACAGTATACCTTTGCCACAGAAATCATCAGCC
CAGTCTCCAGAGAGACAGGTATCCTCAATTCCTATTATTTCAGGTGGTACAAAAGGTCTACTTGGTACTTCACTATTGCTAGACACTGTG
GAATCAGAGTCTGATGATGAGTATTTTGATGCTGAAGATGGAGAACCACAGACTTGTAAAAGTATGAAAGGATCAGAACTTAAAAAAGCT
GCAGAGGTCCCAAATGAGGAGCTCATCAATCTTCTACTCAAGTTTGAAATTAAAGAAGTGATTTTGGAATTTACTAAACAGCAGAAAGAA
GAAGATACAATTCTAGTATTTAATGTTACTCAGTTAGGAACAGAGGCCACAATGAGAACATTTGACTTAACTGTGGTATCTTATTTAAAG
AAAATCAGCTTGGATTATCATGAAATTGAAGGATCCAAAAGGAAGCCCCTTCACTTGATTAGCTCTTCTGACAAACCTGGATTAGATCTT
TTGAAAGTGGAGTATATTAAGGCTGATAAGAATGGACCTAGTTTTCAAACTGCTTTTGGAAAAACTGAACAAACAGTTAAGGTGGCCTTT
TCATCTTTAAATCTGTTGCTGCAAACACAAGCTCTTGTCGCTTCTATTAATTACCTCACAACCATTATTCCATCTGATGATCAAAGCATA
AGTGTTGCTAAGGAGGTACAAATTTCAACTGAAAAACAACAAAAAAATTCAACTCTGCCAAAAGCGATTGTATCCTCCAGAGATAGTGAC
ATTATTGATTTCAGGCTATTTGCCAAGTTGAATGCTTTCTGTGTCATTGTTTGCAACGAAAAGAACAATATCGCCGAAATCAAGATTCAA
GGACTGGATTCCTCCCTTTCTCTCCAGTCAAGAAAGCAGTCACTTTTTGCCCGACTAGAAAATATTATTGTCACAGATGTTGATCCAAAG
ACAGTTCATAAGAAAGCTGTGTCAATAATGGGAAATGAAGTTTTCCGTTTTAATTTGGATTTGTATCCAGATGCTACTGAGGGGGATTTG
TATACTGACATGTCCAAAGTGGATGGTGTGCTGTCTCTGAATGTTGGCTGTATTCAGATTGTCTATCTTCATAAATTCCTTATGTCACTT
CTGAACTTCCTGAATAATTTCCAGACAGCCAAAGAGTCTCTGAGTGCTGCCACTGCCCAGGCTGCAGAAAGGGCTGCCACAAGTGTGAAA
GATCTTGCCCAGAGGAGTTTTCGTGTTTCCATCAATATTGATTTGAAAGCACCGGTTATAGTCATCCCACAGTCTTCTATTTCCACCAAT
GCAGTAGTGGTAGATCTTGGGTTAATCAGAGTTCATAATCAGTTCAGTCTGGTGTCTGATGAAGACTACTTAAATCCTCCAGTAATTGAT
AGAATGGATGTGCAGCTAACAAAGCTTACACTTTATAGGACAGTGATCCAGCCAGGCATCTACCATCCTGATATTCAGCTGTTGCACCCA
ATTAACTTGGAATTTCTTGTAAATCGGAATCTAGCTGCATCTTGGTACCACAAGGTGCCTGTTGTGGAAATTAAAGGACATCTTGATTCA
ATGAATGTTAGTCTAAATCAAGAAGATCTTAATCTTTTATTTAGGATACTAACAGAAAATCTCTGTGAGGGTACTGAAGACTTGGATAAA
GTGAAACCAAGAGTACAAGAGACAGGTGAAATTAAAGAGCCCCTTGAAATCTCTATATCACAAGATGTACATGATTCAAAAAATACTTTA
ACAACTGGAGTGGAAGAAATTAGGTCTGTAGACATCATTAATATGCTGCTGAATTTTGAAATTAAAGAGGTTGTGGTTACTTTGATGAAA
AAATCAGAAAAGAAAGGAAGGCCTTTACATGAGCTAAATGTCCTGCAACTTGGAATGGAAGCTAAAGTTAAAACCTATGACATGACTGCT
AAAGCTTATCTAAAAAAAATTAGTATGCAGTGCTTTGATTTCACTGACTCTAAAGGGGAACCTCTTCACATTATTAACTCTTCTAATGTG
ACTGACGAACCCCTTCTGAAAATGTTACTGACAAAGGCAGACAGTGATGGACCAGAATTTAAAACTATTCATGACAGTACCAAACAGAGA
CTGAAGGTTTCATTTGCATCCTTAGACTTAGTACTTCATTTGGAAGCTTTACTTTCCTTCATGGATTTTTTATCATCTGCTGCTCCATTC
TCTGAGCCTTCCTCTTCTGAGAAGGAATCCGAGCTGAAACCACTTGTGGGGGAGTCCAGAAGTATCGCTGTCAAAGCTGTATCCAGCAAC
ATTTCCCAAAAGGATGTGTTTGATTTAAAGATCACAGCTGAATTAAATGCATTTAATGTCTTTGTCTGTGATCAGAAGTGTAACATTGCA
GATATTAAAATACATGGAATGGATGCCTCTATTTCTGTGAAGCCTAAGCAGACTGATGTGTTTGCCAGACTTAAAGATATTATAGTTATG
AATGTAGATTTGCAGTCCATTCACAAAAAGGCTGTCTCTATTTTGGGAGATGAAGTCTTTAGGTTCCAACTGACTCTTTATCCAGATGCC
ACAGAAGGAGAGGCCTATGCTGATATGTCCAAAGTAGACGGCAAACTTAGTTTTAAAGTGGGTTGTATTCAGATTGTTTATGTTCATAAA
TTCTTCATGTCTCTTTTGAACTTCCTCAACAATTTCCAAACTGCTAAAGAAGCTTTGAGTACAGCCACAGTCCAGGCTGCAGAAAGAGCT
GCTTCCAGCATGAAAGACTTGGCTCAAAAGAGTTTCCGCCTTTTGATGGATATTAATTTGAAAGCACCAGTTATTATTATTCCTCAGTCT
TCAGTATCACCTAATGCTGTTATAGCAGATCTGGGTTTAATCAGAGTTGAAAACAAGTTTAGCTTGGTTCCTATGGAACATTATTCTCTT
CCTCCAGTCATTGATAAAATGAACATCGAACTCACTCAGTTGAAGCTGTCAAGAACTATTTTGCAGGCTAGCTTGCCACAAAATGACATT
GAAATTTTAAAACCAGTCAACATGCTTTTGTCCATACAGCGAAACTTAGCAGCAGCATGGTATGTGCAAATTCCAGGGATGGAGATAAAA
GGAAAACTAAAACCTATGCAGGTGGCTGCAGTCCGAGAAGGGATGTCCTGGATTGTTCCTGTGCCGCTGCTGTCCCTCCTCACAGCAAAA
CAACTGGAGCAGATGGTGTGTGGGATGCCCGAGATCTCTGTGGAAGTCTTGAAGAAAGTGGTGCGGTACCGTGAGGTGGATGAGCAGCAT
CAGCTGGTGCAGTGGTTCTGGCACACGCTGGAAGAGTTCTCCAATGAGGAGCGGGTGCTTTTCATGAGGTTTGTGTCAGGAAGATCTCGA
CTACCAGCCAACACTGCTGACATTTCTCAGAGATTTCAAATCATGAAGGTTGATAGGCCTTACGACAGTCTGCCTACCTCACAGACCTGC
TTCTTCCAGCTGAGGCTGCCCCCGTACTCCAGCCAGCTGGTCATGGCCGAGCGCCTGCGCTATGCCATCAACAACTGCCGCTCAATCGAC

>In-frame_VPS13C_ENST00000395898_chr15_62232846_-_HERC1_ENST00000443617_chr15_63904755_-_5964nt
ATGGTGCTGGAGTCGGTGGTCGCGGACTTGCTGAACCGCTTCCTGGGGGACTATGTGGAGAACCTGAACAAGTCCCAGCTGAAGCTGGGC
ATCTGGGGCGGAAATGTGGCTTTAGATAATCTACAGATAAAAGAAAATGCCCTGAGTGAATTGGATGTTCCTTTTAAAGTCAAGGCTGGC
CAAATTGATAAATTAACTTTGAAGATTCCTTGGAAGAACCTTTATGGAGAAGCAGTTGTTGCGACCCTGGAAGGATTATACCTGCTTGTT
GTCCCTGGAGCAAGTATTAAGTATGATGCTGTAAAAGAAGAAAAATCCTTGCAGGATGTTAAACAGAAAGAGCTATCCCGAATTGAAGAA
GCCCTTCAAAAAGCAGCAGAAAAAGATAAGCCAAAAGAAGCCAAAAAGGATACATTTGTGGAAAAATTGGCAACTCAAGTAATAAAAAAT
GTACAAGTAAAAATCACAGATATTCACATTAAATATGAAGATGATGTCACTGATCCAAAGCGGCCTCTTTCATTTGGTGTCACACTGGGA
GAGCTTAGTCTACTGACTGCAAATGAACACTGGACTCCATGCATATTAAATGAAGCAGACAAAATTATATACAAGCTTATACGACTTGAT
AGTCTTAGCGCCTACTGGAATGTAAATTGCAGCATGTCTTACCAGAGATCAAGGGAACAGATTTTGGATCAGCTGAAAAATGAAATTCTT
ACAAGTGGAAATATACCCCCAAATTATCAATACATTTTCCAGCCAATATCAGCCTCTGCAAAACTCTACATGAATCCTTATGCAGAATCA
GAGCTCAAAACGCCCAAACTGGATTGCAACATAGAAATACAAAATATTGCCATTGAACTGACCAAACCTCAGTACTTAAGTATGATTGAC
CTTTTGGAGTCAGTGGATTATATGGTTAGGAATGCGCCTTATAGGAAATACAAGCCTTATTTACCACTTCATACCAATGGTCGACGATGG
TGGAAATATGCAATTGATTCTGTTCTTGAAGTTCATATAAGAAGGTATACACAGATGTGGTCATGGAGTAACATAAAAAAGCACAGGCAG
TTACTCAAGAGTTATAAAATTGCCTACAAAAACAAGTTAACACAGTCTAAAGTCTCAGAAGAAATACAGAAAGAAATTCAGGACTTGGAG
AAGACTCTAGATGTTTTTAACATAATTTTAGCAAGGCAACAAGCACAAGTTGAGGTGATTCGGTCTGGGCAAAAATTAAGGAAAAAGTCT
GCTGACACAGGCGAGAAACGTGGAGGCTGGTTTAGTGGGTTGTGGGGTAAGAAAGAGTCTAAGAAAAAGGACGAAGAATCATTGATTCCT
GAAACTATTGATGACCTTATGACTCCAGAGGAAAAAGATAAACTCTTCACTGCCATTGGTTATAGTGAGAGTACCCACAACCTAACTTTA
CCTAAGCAGTATGTTGCCCATATTATGACCCTGAAGTTAGTAAGCACCTCTGTTACGATAAGAGAAAACAAGAATATTCCAGAAATACTA
AAAATTCAGATAATTGGCCTGGGCACTCAAGTATCTCAGCGACCAGGAGCACAAGCACTTAAGGTAGAAGCGAAATTAGAACACTGGTAT
ATAACAGGTTTGAGACAGCAGGATATTGTGCCATCACTTGTGGCTTCAATTGGTGACACTACATCATCCTTGCTTAAAATTAAATTTGAA
ACCAATCCGGAGGATAGTCCTGCTGACCAGACTCTGATTGTTCAGTCCCAGCCTGTGGAGGTCATCTATGATGCTAAAACTGTCAATGCA
GTGGTTGAATTCTTTCAATCAAATAAGGGATTGGATCTTGAGCAAATAACATCAGCAACATTGATGAAGCTGGAAGAAATTAAGGAGAGA
ACAGCTACAGGACTTACACATATTATTGAAACTCGAAAAGTCCTTGATTTAAGGATAAATCTGAAGCCTTCTTATCTAGTAGTTCCACAG
ACGGGTTTCCACCATGAAAAGTCAGATCTTCTGATTTTAGATTTTGGTACATTTCAGCTCAACAGTAAAGATCAAGGTTTACAGAAGACT
ACTAATTCATCTCTGGAAGAAATAATGGATAAGGCATATGACAAGTTTGATGTTGAAATAAAAAATGTACAACTACTTTTTGCAAGAGCA
GAGGAAACCTGGAAAAAGTGTCGATTTCAGCATCCATCAACTATGCATATATTGCAACCCATGGATATTCATGTTGAGTTGGCTAAGGCC
ATGGTAGAAAAAGACATTAGAATGGCCAGATTTAAAGTGTCAGGAGGACTTCCTTTGATGCATGTGAGAATTTCTGACCAGAAGATGAAA
GATGTGCTATATTTGATGAACAGTATACCTTTGCCACAGAAATCATCAGCCCAGTCTCCAGAGAGACAGGTATCCTCAATTCCTATTATT
TCAGGTGGTACAAAAGGTCTACTTGGTACTTCACTATTGCTAGACACTGTGGAATCAGAGTCTGATGATGAGTATTTTGATGCTGAAGAT
GGAGAACCACAGACTTGTAAAAGTATGAAAGGATCAGAACTTAAAAAAGCTGCAGAGGTCCCAAATGAGGAGCTCATCAATCTTCTACTC
AAGTTTGAAATTAAAGAAGTGATTTTGGAATTTACTAAACAGCAGAAAGAAGAAGATACAATTCTAGTATTTAATGTTACTCAGTTAGGA
ACAGAGGCCACAATGAGAACATTTGACTTAACTGTGGTATCTTATTTAAAGAAAATCAGCTTGGATTATCATGAAATTGAAGGATCCAAA
AGGAAGCCCCTTCACTTGATTAGCTCTTCTGACAAACCTGGATTAGATCTTTTGAAAGTGGAGTATATTAAGGCTGATAAGAATGGACCT
AGTTTTCAAACTGCTTTTGGAAAAACTGAACAAACAGTTAAGGTGGCCTTTTCATCTTTAAATCTGTTGCTGCAAACACAAGCTCTTGTC
GCTTCTATTAATTACCTCACAACCATTATTCCATCTGATGATCAAAGCATAAGTGTTGCTAAGGAGGTACAAATTTCAACTGAAAAACAA
CAAAAAAATTCAACTCTGCCAAAAGCGATTGTATCCTCCAGAGATAGTGACATTATTGATTTCAGGCTATTTGCCAAGTTGAATGCTTTC
TGTGTCATTGTTTGCAACGAAAAGAACAATATCGCCGAAATCAAGATTCAAGGACTGGATTCCTCCCTTTCTCTCCAGTCAAGAAAGCAG
TCACTTTTTGCCCGACTAGAAAATATTATTGTCACAGATGTTGATCCAAAGACAGTTCATAAGAAAGCTGTGTCAATAATGGGAAATGAA
GTTTTCCGTTTTAATTTGGATTTGTATCCAGATGCTACTGAGGGGGATTTGTATACTGACATGTCCAAAGTGGATGGTGTGCTGTCTCTG
AATGTTGGCTGTATTCAGATTGTCTATCTTCATAAATTCCTTATGTCACTTCTGAACTTCCTGAATAATTTCCAGACAGCCAAAGAGTCT
CTGAGTGCTGCCACTGCCCAGGCTGCAGAAAGGGCTGCCACAAGTGTGAAAGATCTTGCCCAGAGGAGTTTTCGTGTTTCCATCAATATT
GATTTGAAAGCACCGGTTATAGTCATCCCACAGTCTTCTATTTCCACCAATGCAGTAGTGGTAGATCTTGGGTTAATCAGAGTTCATAAT
CAGTTCAGTCTGGTGTCTGATGAAGACTACTTAAATCCTCCAGTAATTGATAGAATGGATGTGCAGCTAACAAAGCTTACACTTTATAGG
ACAGTGATCCAGCCAGGCATCTACCATCCTGATATTCAGCTGTTGCACCCAATTAACTTGGAATTTCTTGTAAATCGGAATCTAGCTGCA
TCTTGGTACCACAAGGTGCCTGTTGTGGAAATTAAAGGACATCTTGATTCAATGAATGTTAGTCTAAATCAAGAAGATCTTAATCTTTTA
TTTAGGATACTAACAGAAAATCTCTGTGAGGGTACTGAAGACTTGGATAAAGTGAAACCAAGAGTACAAGAGACAGGTGAAATTAAAGAG
CCCCTTGAAATCTCTATATCACAAGATGTACATGATTCAAAAAATACTTTAACAACTGGAGTGGAAGAAATTAGGTCTGTAGACATCATT
AATATGCTGCTGAATTTTGAAATTAAAGAGGTTGTGGTTACTTTGATGAAAAAATCAGAAAAGAAAGGAAGGCCTTTACATGAGCTAAAT
GTCCTGCAACTTGGAATGGAAGCTAAAGTTAAAACCTATGACATGACTGCTAAAGCTTATCTAAAAAAAATTAGTATGCAGTGCTTTGAT
TTCACTGACTCTAAAGGGGAACCTCTTCACATTATTAACTCTTCTAATGTGACTGACGAACCCCTTCTGAAAATGTTACTGACAAAGGCA
GACAGTGATGGACCAGAATTTAAAACTATTCATGACAGTACCAAACAGAGACTGAAGGTTTCATTTGCATCCTTAGACTTAGTACTTCAT
TTGGAAGCTTTACTTTCCTTCATGGATTTTTTATCATCTGCTGCTCCATTCTCTGAGCCTTCCTCTTCTGAGAAGGAATCCGAGCTGAAA
CCACTTGTGGGGGAGTCCAGAAGTATCGCTGTCAAAGCTGTATCCAGCAACATTTCCCAAAAGGATGTGTTTGATTTAAAGATCACAGCT
GAATTAAATGCATTTAATGTCTTTGTCTGTGATCAGAAGTGTAACATTGCAGATATTAAAATACATGGAATGGATGCCTCTATTTCTGTG
AAGCCTAAGCAGACTGATGTGTTTGCCAGACTTAAAGATATTATAGTTATGAATGTAGATTTGCAGTCCATTCACAAAAAGGCTGTCTCT
ATTTTGGGAGATGAAGTCTTTAGGTTCCAACTGACTCTTTATCCAGATGCCACAGAAGGAGAGGCCTATGCTGATATGTCCAAAGTAGAC
GGCAAACTTAGTTTTAAAGTGGGTTGTATTCAGATTGTTTATGTTCATAAATTCTTCATGTCTCTTTTGAACTTCCTCAACAATTTCCAA
ACTGCTAAAGAAGCTTTGAGTACAGCCACAGTCCAGGCTGCAGAAAGAGCTGCTTCCAGCATGAAAGACTTGGCTCAAAAGAGTTTCCGC
CTTTTGATGGATATTAATTTGAAAGCACCAGTTATTATTATTCCTCAGTCTTCAGTATCACCTAATGCTGTTATAGCAGATCTGGGTTTA
ATCAGAGTTGAAAACAAGTTTAGCTTGGTTCCTATGGAACATTATTCTCTTCCTCCAGTCATTGATAAAATGAACATCGAACTCACTCAG
TTGAAGCTGTCAAGAACTATTTTGCAGGCTAGCTTGCCACAAAATGACATTGAAATTTTAAAACCAGTCAACATGCTTTTGTCCATACAG
CGAAACTTAGCAGCAGCATGGTATGTGCAAATTCCAGGGATGGAGATAAAAGGAAAACTAAAACCTATGCAGGTGGCTGCAGTCCGAGAA
GGGATGTCCTGGATTGTTCCTGTGCCGCTGCTGTCCCTCCTCACAGCAAAACAACTGGAGCAGATGGTGTGTGGGATGCCCGAGATCTCT
GTGGAAGTCTTGAAGAAAGTGGTGCGGTACCGTGAGGTGGATGAGCAGCATCAGCTGGTGCAGTGGTTCTGGCACACGCTGGAAGAGTTC
TCCAATGAGGAGCGGGTGCTTTTCATGAGGTTTGTGTCAGGAAGATCTCGACTACCAGCCAACACTGCTGACATTTCTCAGAGATTTCAA
ATCATGAAGGTTGATAGGCCTTACGACAGTCTGCCTACCTCACAGACCTGCTTCTTCCAGCTGAGGCTGCCCCCGTACTCCAGCCAGCTG
GTCATGGCCGAGCGCCTGCGCTATGCCATCAACAACTGCCGCTCAATCGACATGGACAACTACATGCTCTCGAGAAACGTGGACAACGCC


* Fusion transcript sequences (Full-length transcript).
>In-frame_VPS13C_ENST00000249837_chr15_62232846_-_HERC1_ENST00000443617_chr15_63904755_-_6526nt
GGCCTGCGCCGGAGGGGCTGTCATTTGCAGCGCTGGTCGCAGCCCTCAGCTGCGCCGGGCGGTTCCGGCTCCTCCCTCTCCTTGTGCCTC
AGCGCCACCATGGTGCTGGAGTCGGTGGTCGCGGACTTGCTGAACCGCTTCCTGGGGGACTATGTGGAGAACCTGAACAAGTCCCAGCTG
AAGCTGGGCATCTGGGGCGGAAATGTGGCTTTAGATAATCTACAGATAAAAGAAAATGCCCTGAGTGAATTGGATGTTCCTTTTAAAGTC
AAGGCTGGCCAAATTGATAAATTAACTTTGAAGATTCCTTGGAAGAACCTTTATGGAGAAGCAGTTGTTGCGACCCTGGAAGGATTATAC
CTGCTTGTTGTCCCTGGAGCAAGTATTAAGTATGATGCTGTAAAAGAAGAAAAATCCTTGCAGGATGTTAAACAGAAAGAGCTATCCCGA
ATTGAAGAAGCCCTTCAAAAAGCAGCAGAAAAAGATAAGCCAAAAGAAGCCAAAAAGGATACATTTGTGGAAAAATTGGCAACTCAAGTA
ATAAAAAATGTACAAGTAAAAATCACAGATATTCACATTAAATATGAAGATGATGTCACTGATCCAAAGCGGCCTCTTTCATTTGGTGTC
ACACTGGGAGAGCTTAGTCTACTGACTGCAAATGAACACTGGACTCCATGCATATTAAATGAAGCAGACAAAATTATATACAAGCTTATA
CGACTTGATAGTCTTAGCGCCTACTGGAATGTAAATTGCAGCATGTCTTACCAGAGATCAAGGGAACAGATTTTGGATCAGCTGAAAAAT
GAAATTCTTACAAGTGGAAATATACCCCCAAATTATCAATACATTTTCCAGCCAATATCAGCCTCTGCAAAACTCTACATGAATCCTTAT
GCAGAATCAGAGCTCAAAACGCCCAAACTGGATTGCAACATAGAAATACAAAATATTGCCATTGAACTGACCAAACCTCAGTACTTAAGT
ATGATTGACCTTTTGGAGTCAGTGGATTATATGGTTAGGAATGCGCCTTATAGGAAATACAAGCCTTATTTACCACTTCATACCAATGGT
CGACGATGGTGGAAATATGCAATTGATTCTGTTCTTGAAGTTCATATAAGAAGGTATACACAGATGTGGTCATGGAGTAACATAAAAAAG
CACAGGCAGTTACTCAAGAGTTATAAAATTGCCTACAAAAACAAGTTAACACAGTCTAAAGTCTCAGAAGAAATACAGAAAGAAATTCAG
GACTTGGAGAAGACTCTAGATGTTTTTAACATAATTTTAGCAAGGCAACAAGCACAAGTTGAGGTGATTCGGTCTGGGCAAAAATTAAGG
AAAAAGTCTGCTGACACAGGCGAGAAACGTGGAGGCTGGTTTAGTGGGTTGTGGGGTAAGAAAGAGTCTAAGAAAAAGGACGAAGAATCA
TTGATTCCTGAAACTATTGATGACCTTATGACTCCAGAGGAAAAAGATAAACTCTTCACTGCCATTGGTTATAGTGAGAGTACCCACAAC
CTAACTTTACCTAAGCAGTATGTTGCCCATATTATGACCCTGAAGTTAGTAAGCACCTCTGTTACGATAAGAGAAAACAAGAATATTCCA
GAAATACTAAAAATTCAGATAATTGGCCTGGGCACTCAAGTATCTCAGCGACCAGGAGCACAAGCACTTAAGGTAGAAGCGAAATTAGAA
CACTGGTATATAACAGGTTTGAGACAGCAGGATATTGTGCCATCACTTGTGGCTTCAATTGGTGACACTACATCATCCTTGCTTAAAATT
AAATTTGAAACCAATCCGGAGGATAGTCCTGCTGACCAGACTCTGATTGTTCAGTCCCAGCCTGTGGAGGTCATCTATGATGCTAAAACT
GTCAATGCAGTGGTTGAATTCTTTCAATCAAATAAGGGATTGGATCTTGAGCAAATAACATCAGCAACATTGATGAAGCTGGAAGAAATT
AAGGAGAGAACAGCTACAGGACTTACACATATTATTGAAACTCGAAAAGTCCTTGATTTAAGGATAAATCTGAAGCCTTCTTATCTAGTA
GTTCCACAGACGGGTTTCCACCATGAAAAGTCAGATCTTCTGATTTTAGATTTTGGTACATTTCAGCTCAACAGTAAAGATCAAGGTTTA
CAGAAGACTACTAATTCATCTCTGGAAGAAATAATGGATAAGGCATATGACAAGTTTGATGTTGAAATAAAAAATGTACAACTACTTTTT
GCAAGAGCAGAGGAAACCTGGAAAAAGTGTCGATTTCAGCATCCATCAACTATGCATATATTGCAACCCATGGATATTCATGTTGAGTTG
GCTAAGGCCATGGTAGAAAAAGACATTAGAATGGCCAGATTTAAAGTGTCAGGAGGACTTCCTTTGATGCATGTGAGAATTTCTGACCAG
AAGATGAAAGATGTGCTATATTTGATGAACAGTATACCTTTGCCACAGAAATCATCAGCCCAGTCTCCAGAGAGACAGGTATCCTCAATT
CCTATTATTTCAGGTGGTACAAAAGGTCTACTTGGTACTTCACTATTGCTAGACACTGTGGAATCAGAGTCTGATGATGAGTATTTTGAT
GCTGAAGATGGAGAACCACAGACTTGTAAAAGTATGAAAGGATCAGAACTTAAAAAAGCTGCAGAGGTCCCAAATGAGGAGCTCATCAAT
CTTCTACTCAAGTTTGAAATTAAAGAAGTGATTTTGGAATTTACTAAACAGCAGAAAGAAGAAGATACAATTCTAGTATTTAATGTTACT
CAGTTAGGAACAGAGGCCACAATGAGAACATTTGACTTAACTGTGGTATCTTATTTAAAGAAAATCAGCTTGGATTATCATGAAATTGAA
GGATCCAAAAGGAAGCCCCTTCACTTGATTAGCTCTTCTGACAAACCTGGATTAGATCTTTTGAAAGTGGAGTATATTAAGGCTGATAAG
AATGGACCTAGTTTTCAAACTGCTTTTGGAAAAACTGAACAAACAGTTAAGGTGGCCTTTTCATCTTTAAATCTGTTGCTGCAAACACAA
GCTCTTGTCGCTTCTATTAATTACCTCACAACCATTATTCCATCTGATGATCAAAGCATAAGTGTTGCTAAGGAGGTACAAATTTCAACT
GAAAAACAACAAAAAAATTCAACTCTGCCAAAAGCGATTGTATCCTCCAGAGATAGTGACATTATTGATTTCAGGCTATTTGCCAAGTTG
AATGCTTTCTGTGTCATTGTTTGCAACGAAAAGAACAATATCGCCGAAATCAAGATTCAAGGACTGGATTCCTCCCTTTCTCTCCAGTCA
AGAAAGCAGTCACTTTTTGCCCGACTAGAAAATATTATTGTCACAGATGTTGATCCAAAGACAGTTCATAAGAAAGCTGTGTCAATAATG
GGAAATGAAGTTTTCCGTTTTAATTTGGATTTGTATCCAGATGCTACTGAGGGGGATTTGTATACTGACATGTCCAAAGTGGATGGTGTG
CTGTCTCTGAATGTTGGCTGTATTCAGATTGTCTATCTTCATAAATTCCTTATGTCACTTCTGAACTTCCTGAATAATTTCCAGACAGCC
AAAGAGTCTCTGAGTGCTGCCACTGCCCAGGCTGCAGAAAGGGCTGCCACAAGTGTGAAAGATCTTGCCCAGAGGAGTTTTCGTGTTTCC
ATCAATATTGATTTGAAAGCACCGGTTATAGTCATCCCACAGTCTTCTATTTCCACCAATGCAGTAGTGGTAGATCTTGGGTTAATCAGA
GTTCATAATCAGTTCAGTCTGGTGTCTGATGAAGACTACTTAAATCCTCCAGTAATTGATAGAATGGATGTGCAGCTAACAAAGCTTACA
CTTTATAGGACAGTGATCCAGCCAGGCATCTACCATCCTGATATTCAGCTGTTGCACCCAATTAACTTGGAATTTCTTGTAAATCGGAAT
CTAGCTGCATCTTGGTACCACAAGGTGCCTGTTGTGGAAATTAAAGGACATCTTGATTCAATGAATGTTAGTCTAAATCAAGAAGATCTT
AATCTTTTATTTAGGATACTAACAGAAAATCTCTGTGAGGGTACTGAAGACTTGGATAAAGTGAAACCAAGAGTACAAGAGACAGGTGAA
ATTAAAGAGCCCCTTGAAATCTCTATATCACAAGATGTACATGATTCAAAAAATACTTTAACAACTGGAGTGGAAGAAATTAGGTCTGTA
GACATCATTAATATGCTGCTGAATTTTGAAATTAAAGAGGTTGTGGTTACTTTGATGAAAAAATCAGAAAAGAAAGGAAGGCCTTTACAT
GAGCTAAATGTCCTGCAACTTGGAATGGAAGCTAAAGTTAAAACCTATGACATGACTGCTAAAGCTTATCTAAAAAAAATTAGTATGCAG
TGCTTTGATTTCACTGACTCTAAAGGGGAACCTCTTCACATTATTAACTCTTCTAATGTGACTGACGAACCCCTTCTGAAAATGTTACTG
ACAAAGGCAGACAGTGATGGACCAGAATTTAAAACTATTCATGACAGTACCAAACAGAGACTGAAGGTTTCATTTGCATCCTTAGACTTA
GTACTTCATTTGGAAGCTTTACTTTCCTTCATGGATTTTTTATCATCTGCTGCTCCATTCTCTGAGCCTTCCTCTTCTGAGAAGGAATCC
GAGCTGAAACCACTTGTGGGGGAGTCCAGAAGTATCGCTGTCAAAGCTGTATCCAGCAACATTTCCCAAAAGGATGTGTTTGATTTAAAG
ATCACAGCTGAATTAAATGCATTTAATGTCTTTGTCTGTGATCAGAAGTGTAACATTGCAGATATTAAAATACATGGAATGGATGCCTCT
ATTTCTGTGAAGCCTAAGCAGACTGATGTGTTTGCCAGACTTAAAGATATTATAGTTATGAATGTAGATTTGCAGTCCATTCACAAAAAG
GCTGTCTCTATTTTGGGAGATGAAGTCTTTAGGTTCCAACTGACTCTTTATCCAGATGCCACAGAAGGAGAGGCCTATGCTGATATGTCC
AAAGTAGACGGCAAACTTAGTTTTAAAGTGGGTTGTATTCAGATTGTTTATGTTCATAAATTCTTCATGTCTCTTTTGAACTTCCTCAAC
AATTTCCAAACTGCTAAAGAAGCTTTGAGTACAGCCACAGTCCAGGCTGCAGAAAGAGCTGCTTCCAGCATGAAAGACTTGGCTCAAAAG
AGTTTCCGCCTTTTGATGGATATTAATTTGAAAGCACCAGTTATTATTATTCCTCAGTCTTCAGTATCACCTAATGCTGTTATAGCAGAT
CTGGGTTTAATCAGAGTTGAAAACAAGTTTAGCTTGGTTCCTATGGAACATTATTCTCTTCCTCCAGTCATTGATAAAATGAACATCGAA
CTCACTCAGTTGAAGCTGTCAAGAACTATTTTGCAGGCTAGCTTGCCACAAAATGACATTGAAATTTTAAAACCAGTCAACATGCTTTTG
TCCATACAGCGAAACTTAGCAGCAGCATGGTATGTGCAAATTCCAGGGATGGAGATAAAAGGAAAACTAAAACCTATGCAGGTGGCTGCA
GTCCGAGAAGGGATGTCCTGGATTGTTCCTGTGCCGCTGCTGTCCCTCCTCACAGCAAAACAACTGGAGCAGATGGTGTGTGGGATGCCC
GAGATCTCTGTGGAAGTCTTGAAGAAAGTGGTGCGGTACCGTGAGGTGGATGAGCAGCATCAGCTGGTGCAGTGGTTCTGGCACACGCTG
GAAGAGTTCTCCAATGAGGAGCGGGTGCTTTTCATGAGGTTTGTGTCAGGAAGATCTCGACTACCAGCCAACACTGCTGACATTTCTCAG
AGATTTCAAATCATGAAGGTTGATAGGCCTTACGACAGTCTGCCTACCTCACAGACCTGCTTCTTCCAGCTGAGGCTGCCCCCGTACTCC
AGCCAGCTGGTCATGGCCGAGCGCCTGCGCTATGCCATCAACAACTGCCGCTCAATCGACATGGACAACTACATGCTCTCGAGAAACGTG
GACAACGCCGAGGGCTCCGACACTGACTACTGACCGTGCGGGTGCTCTCACCCTCCCTTCTCTCCCTCAATAATGCTCACTTCTGATTTG
ATGTTGATATACTTTTATGGTAACTACATAGATGTTATAAGAACATAAACCAACATTATAAACAATGGCCACATTTAGTTACTCTAAATG
TAACAAAGAAATTAGATGTTTTTATTTTTCTGTGATTGTACAAAAACAACAAAAACGAAGTGCTCTCAGTCAGGTTTTTCCCTCCATATT
TTTGGTCACTTTTGATAAGTTTGCATGAAACCATTTTGGTGCATTTTTAGTTGGGAATGGTACATTTTTGTAAATCCACCCAGTGAACAT
GAAATTGTACATTGTGTATAATTGTTCATTAGAAAGGACAGTTTTACATGAATATTCATATATTTATTTTGTTTTAATTTGAATTGCCTG

>In-frame_VPS13C_ENST00000261517_chr15_62232846_-_HERC1_ENST00000443617_chr15_63904755_-_6630nt
TGCAGCGCTGGTCGCAGCCCTCAGCTGCGCCGGGCGGTTCCGGCTCCTCCCTCTCCTTGTGCCTCAGCGCCACCATGGTGCTGGAGTCGG
TGGTCGCGGACTTGCTGAACCGCTTCCTGGGGGACTATGTGGAGAACCTGAACAAGTCCCAGCTGAAGCTGGGCATCTGGGGCGGAAATG
TGGCTTTAGATAATCTACAGATAAAAGAAAATGCCCTGAGTGAATTGGATGTTCCTTTTAAAGTCAAGGCTGGCCAAATTGATAAATTAA
CTTTGAAGATTCCTTGGAAGAACCTTTATGGAGAAGCAGTTGTTGCGACCCTGGAAGGATTATACCTGCTTGTTGTCCCTGGAGCAAGTA
TTAAGTATGATGCTGTAAAAGAAGAAAAATCCTTGCAGGATGTTAAACAGAAAGAGCTATCCCGAATTGAAGAAGCCCTTCAAAAAGCAG
CAGAAAAAGGCACACATTCAGGGGAGTTCATATATGGCTTGGAGAACTTTGTTTACAAGGACATCAAGCCTGGACGTAAACGTAAAAAGC
ACAAAAAACATTTTAAGAAACCTTTTAAAGGTCTTGATCGTTCAAAAGATAAGCCAAAAGAAGCCAAAAAGGATACATTTGTGGAAAAAT
TGGCAACTCAAGTAATAAAAAATGTACAAGTAAAAATCACAGATATTCACATTAAATATGAAGATGATGTCACTGATCCAAAGCGGCCTC
TTTCATTTGGTGTCACACTGGGAGAGCTTAGTCTACTGACTGCAAATGAACACTGGACTCCATGCATATTAAATGAAGCAGACAAAATTA
TATACAAGCTTATACGACTTGATAGTCTTAGCGCCTACTGGAATGTAAATTGCAGCATGTCTTACCAGAGATCAAGGGAACAGATTTTGG
ATCAGCTGAAAAATGAAATTCTTACAAGTGGAAATATACCCCCAAATTATCAATACATTTTCCAGCCAATATCAGCCTCTGCAAAACTCT
ACATGAATCCTTATGCAGAATCAGAGCTCAAAACGCCCAAACTGGATTGCAACATAGAAATACAAAATATTGCCATTGAACTGACCAAAC
CTCAGTACTTAAGTATGATTGACCTTTTGGAGTCAGTGGATTATATGGTTAGGAATGCGCCTTATAGGAAATACAAGCCTTATTTACCAC
TTCATACCAATGGTCGACGATGGTGGAAATATGCAATTGATTCTGTTCTTGAAGTTCATATAAGAAGGTATACACAGATGTGGTCATGGA
GTAACATAAAAAAGCACAGGCAGTTACTCAAGAGTTATAAAATTGCCTACAAAAACAAGTTAACACAGTCTAAAGTCTCAGAAGAAATAC
AGAAAGAAATTCAGGACTTGGAGAAGACTCTAGATGTTTTTAACATAATTTTAGCAAGGCAACAAGCACAAGTTGAGGTGATTCGGTCTG
GGCAAAAATTAAGGAAAAAGTCTGCTGACACAGGCGAGAAACGTGGAGGCTGGTTTAGTGGGTTGTGGGGTAAGAAAGAGTCTAAGAAAA
AGGACGAAGAATCATTGATTCCTGAAACTATTGATGACCTTATGACTCCAGAGGAAAAAGATAAACTCTTCACTGCCATTGGTTATAGTG
AGAGTACCCACAACCTAACTTTACCTAAGCAGTATGTTGCCCATATTATGACCCTGAAGTTAGTAAGCACCTCTGTTACGATAAGAGAAA
ACAAGAATATTCCAGAAATACTAAAAATTCAGATAATTGGCCTGGGCACTCAAGTATCTCAGCGACCAGGAGCACAAGCACTTAAGGTAG
AAGCGAAATTAGAACACTGGTATATAACAGGTTTGAGACAGCAGGATATTGTGCCATCACTTGTGGCTTCAATTGGTGACACTACATCAT
CCTTGCTTAAAATTAAATTTGAAACCAATCCGGAGGATAGTCCTGCTGACCAGACTCTGATTGTTCAGTCCCAGCCTGTGGAGGTCATCT
ATGATGCTAAAACTGTCAATGCAGTGGTTGAATTCTTTCAATCAAATAAGGGATTGGATCTTGAGCAAATAACATCAGCAACATTGATGA
AGCTGGAAGAAATTAAGGAGAGAACAGCTACAGGACTTACACATATTATTGAAACTCGAAAAGTCCTTGATTTAAGGATAAATCTGAAGC
CTTCTTATCTAGTAGTTCCACAGACGGGTTTCCACCATGAAAAGTCAGATCTTCTGATTTTAGATTTTGGTACATTTCAGCTCAACAGTA
AAGATCAAGGTTTACAGAAGACTACTAATTCATCTCTGGAAGAAATAATGGATAAGGCATATGACAAGTTTGATGTTGAAATAAAAAATG
TACAACTACTTTTTGCAAGAGCAGAGGAAACCTGGAAAAAGTGTCGATTTCAGCATCCATCAACTATGCATATATTGCAACCCATGGATA
TTCATGTTGAGTTGGCTAAGGCCATGGTAGAAAAAGACATTAGAATGGCCAGATTTAAAGTGTCAGGAGGACTTCCTTTGATGCATGTGA
GAATTTCTGACCAGAAGATGAAAGATGTGCTATATTTGATGAACAGTATACCTTTGCCACAGAAATCATCAGCCCAGTCTCCAGAGAGAC
AGGTATCCTCAATTCCTATTATTTCAGGTGGTACAAAAGGTCTACTTGGTACTTCACTATTGCTAGACACTGTGGAATCAGAGTCTGATG
ATGAGTATTTTGATGCTGAAGATGGAGAACCACAGACTTGTAAAAGTATGAAAGGATCAGAACTTAAAAAAGCTGCAGAGGTCCCAAATG
AGGAGCTCATCAATCTTCTACTCAAGTTTGAAATTAAAGAAGTGATTTTGGAATTTACTAAACAGCAGAAAGAAGAAGATACAATTCTAG
TATTTAATGTTACTCAGTTAGGAACAGAGGCCACAATGAGAACATTTGACTTAACTGTGGTATCTTATTTAAAGAAAATCAGCTTGGATT
ATCATGAAATTGAAGGATCCAAAAGGAAGCCCCTTCACTTGATTAGCTCTTCTGACAAACCTGGATTAGATCTTTTGAAAGTGGAGTATA
TTAAGGCTGATAAGAATGGACCTAGTTTTCAAACTGCTTTTGGAAAAACTGAACAAACAGTTAAGGTGGCCTTTTCATCTTTAAATCTGT
TGCTGCAAACACAAGCTCTTGTCGCTTCTATTAATTACCTCACAACCATTATTCCATCTGATGATCAAAGCATAAGTGTTGCTAAGGAGG
TACAAATTTCAACTGAAAAACAACAAAAAAATTCAACTCTGCCAAAAGCGATTGTATCCTCCAGAGATAGTGACATTATTGATTTCAGGC
TATTTGCCAAGTTGAATGCTTTCTGTGTCATTGTTTGCAACGAAAAGAACAATATCGCCGAAATCAAGATTCAAGGACTGGATTCCTCCC
TTTCTCTCCAGTCAAGAAAGCAGTCACTTTTTGCCCGACTAGAAAATATTATTGTCACAGATGTTGATCCAAAGACAGTTCATAAGAAAG
CTGTGTCAATAATGGGAAATGAAGTTTTCCGTTTTAATTTGGATTTGTATCCAGATGCTACTGAGGGGGATTTGTATACTGACATGTCCA
AAGTGGATGGTGTGCTGTCTCTGAATGTTGGCTGTATTCAGATTGTCTATCTTCATAAATTCCTTATGTCACTTCTGAACTTCCTGAATA
ATTTCCAGACAGCCAAAGAGTCTCTGAGTGCTGCCACTGCCCAGGCTGCAGAAAGGGCTGCCACAAGTGTGAAAGATCTTGCCCAGAGGA
GTTTTCGTGTTTCCATCAATATTGATTTGAAAGCACCGGTTATAGTCATCCCACAGTCTTCTATTTCCACCAATGCAGTAGTGGTAGATC
TTGGGTTAATCAGAGTTCATAATCAGTTCAGTCTGGTGTCTGATGAAGACTACTTAAATCCTCCAGTAATTGATAGAATGGATGTGCAGC
TAACAAAGCTTACACTTTATAGGACAGTGATCCAGCCAGGCATCTACCATCCTGATATTCAGCTGTTGCACCCAATTAACTTGGAATTTC
TTGTAAATCGGAATCTAGCTGCATCTTGGTACCACAAGGTGCCTGTTGTGGAAATTAAAGGACATCTTGATTCAATGAATGTTAGTCTAA
ATCAAGAAGATCTTAATCTTTTATTTAGGATACTAACAGAAAATCTCTGTGAGGGTACTGAAGACTTGGATAAAGTGAAACCAAGAGTAC
AAGAGACAGGTGAAATTAAAGAGCCCCTTGAAATCTCTATATCACAAGATGTACATGATTCAAAAAATACTTTAACAACTGGAGTGGAAG
AAATTAGGTCTGTAGACATCATTAATATGCTGCTGAATTTTGAAATTAAAGAGGTTGTGGTTACTTTGATGAAAAAATCAGAAAAGAAAG
GAAGGCCTTTACATGAGCTAAATGTCCTGCAACTTGGAATGGAAGCTAAAGTTAAAACCTATGACATGACTGCTAAAGCTTATCTAAAAA
AAATTAGTATGCAGTGCTTTGATTTCACTGACTCTAAAGGGGAACCTCTTCACATTATTAACTCTTCTAATGTGACTGACGAACCCCTTC
TGAAAATGTTACTGACAAAGGCAGACAGTGATGGACCAGAATTTAAAACTATTCATGACAGTACCAAACAGAGACTGAAGGTTTCATTTG
CATCCTTAGACTTAGTACTTCATTTGGAAGCTTTACTTTCCTTCATGGATTTTTTATCATCTGCTGCTCCATTCTCTGAGCCTTCCTCTT
CTGAGAAGGAATCCGAGCTGAAACCACTTGTGGGGGAGTCCAGAAGTATCGCTGTCAAAGCTGTATCCAGCAACATTTCCCAAAAGGATG
TGTTTGATTTAAAGATCACAGCTGAATTAAATGCATTTAATGTCTTTGTCTGTGATCAGAAGTGTAACATTGCAGATATTAAAATACATG
GAATGGATGCCTCTATTTCTGTGAAGCCTAAGCAGACTGATGTGTTTGCCAGACTTAAAGATATTATAGTTATGAATGTAGATTTGCAGT
CCATTCACAAAAAGGCTGTCTCTATTTTGGGAGATGAAGTCTTTAGGTTCCAACTGACTCTTTATCCAGATGCCACAGAAGGAGAGGCCT
ATGCTGATATGTCCAAAGTAGACGGCAAACTTAGTTTTAAAGTGGGTTGTATTCAGATTGTTTATGTTCATAAATTCTTCATGTCTCTTT
TGAACTTCCTCAACAATTTCCAAACTGCTAAAGAAGCTTTGAGTACAGCCACAGTCCAGGCTGCAGAAAGAGCTGCTTCCAGCATGAAAG
ACTTGGCTCAAAAGAGTTTCCGCCTTTTGATGGATATTAATTTGAAAGCACCAGTTATTATTATTCCTCAGTCTTCAGTATCACCTAATG
CTGTTATAGCAGATCTGGGTTTAATCAGAGTTGAAAACAAGTTTAGCTTGGTTCCTATGGAACATTATTCTCTTCCTCCAGTCATTGATA
AAATGAACATCGAACTCACTCAGTTGAAGCTGTCAAGAACTATTTTGCAGGCTAGCTTGCCACAAAATGACATTGAAATTTTAAAACCAG
TCAACATGCTTTTGTCCATACAGCGAAACTTAGCAGCAGCATGGTATGTGCAAATTCCAGGGATGGAGATAAAAGGAAAACTAAAACCTA
TGCAGGTGGCTGCAGTCCGAGAAGGGATGTCCTGGATTGTTCCTGTGCCGCTGCTGTCCCTCCTCACAGCAAAACAACTGGAGCAGATGG
TGTGTGGGATGCCCGAGATCTCTGTGGAAGTCTTGAAGAAAGTGGTGCGGTACCGTGAGGTGGATGAGCAGCATCAGCTGGTGCAGTGGT
TCTGGCACACGCTGGAAGAGTTCTCCAATGAGGAGCGGGTGCTTTTCATGAGGTTTGTGTCAGGAAGATCTCGACTACCAGCCAACACTG
CTGACATTTCTCAGAGATTTCAAATCATGAAGGTTGATAGGCCTTACGACAGTCTGCCTACCTCACAGACCTGCTTCTTCCAGCTGAGGC
TGCCCCCGTACTCCAGCCAGCTGGTCATGGCCGAGCGCCTGCGCTATGCCATCAACAACTGCCGCTCAATCGACATGGACAACTACATGC
TCTCGAGAAACGTGGACAACGCCGAGGGCTCCGACACTGACTACTGACCGTGCGGGTGCTCTCACCCTCCCTTCTCTCCCTCAATAATGC
TCACTTCTGATTTGATGTTGATATACTTTTATGGTAACTACATAGATGTTATAAGAACATAAACCAACATTATAAACAATGGCCACATTT
AGTTACTCTAAATGTAACAAAGAAATTAGATGTTTTTATTTTTCTGTGATTGTACAAAAACAACAAAAACGAAGTGCTCTCAGTCAGGTT
TTTCCCTCCATATTTTTGGTCACTTTTGATAAGTTTGCATGAAACCATTTTGGTGCATTTTTAGTTGGGAATGGTACATTTTTGTAAATC
CACCCAGTGAACATGAAATTGTACATTGTGTATAATTGTTCATTAGAAAGGACAGTTTTACATGAATATTCATATATTTATTTTGTTTTA

>In-frame_VPS13C_ENST00000395896_chr15_62232846_-_HERC1_ENST00000443617_chr15_63904755_-_6630nt
TGCAGCGCTGGTCGCAGCCCTCAGCTGCGCCGGGCGGTTCCGGCTCCTCCCTCTCCTTGTGCCTCAGCGCCACCATGGTGCTGGAGTCGG
TGGTCGCGGACTTGCTGAACCGCTTCCTGGGGGACTATGTGGAGAACCTGAACAAGTCCCAGCTGAAGCTGGGCATCTGGGGCGGAAATG
TGGCTTTAGATAATCTACAGATAAAAGAAAATGCCCTGAGTGAATTGGATGTTCCTTTTAAAGTCAAGGCTGGCCAAATTGATAAATTAA
CTTTGAAGATTCCTTGGAAGAACCTTTATGGAGAAGCAGTTGTTGCGACCCTGGAAGGATTATACCTGCTTGTTGTCCCTGGAGCAAGTA
TTAAGTATGATGCTGTAAAAGAAGAAAAATCCTTGCAGGATGTTAAACAGAAAGAGCTATCCCGAATTGAAGAAGCCCTTCAAAAAGCAG
CAGAAAAAGGCACACATTCAGGGGAGTTCATATATGGCTTGGAGAACTTTGTTTACAAGGACATCAAGCCTGGACGTAAACGTAAAAAGC
ACAAAAAACATTTTAAGAAACCTTTTAAAGGTCTTGATCGTTCAAAAGATAAGCCAAAAGAAGCCAAAAAGGATACATTTGTGGAAAAAT
TGGCAACTCAAGTAATAAAAAATGTACAAGTAAAAATCACAGATATTCACATTAAATATGAAGATGATGTCACTGATCCAAAGCGGCCTC
TTTCATTTGGTGTCACACTGGGAGAGCTTAGTCTACTGACTGCAAATGAACACTGGACTCCATGCATATTAAATGAAGCAGACAAAATTA
TATACAAGCTTATACGACTTGATAGTCTTAGCGCCTACTGGAATGTAAATTGCAGCATGTCTTACCAGAGATCAAGGGAACAGATTTTGG
ATCAGCTGAAAAATGAAATTCTTACAAGTGGAAATATACCCCCAAATTATCAATACATTTTCCAGCCAATATCAGCCTCTGCAAAACTCT
ACATGAATCCTTATGCAGAATCAGAGCTCAAAACGCCCAAACTGGATTGCAACATAGAAATACAAAATATTGCCATTGAACTGACCAAAC
CTCAGTACTTAAGTATGATTGACCTTTTGGAGTCAGTGGATTATATGGTTAGGAATGCGCCTTATAGGAAATACAAGCCTTATTTACCAC
TTCATACCAATGGTCGACGATGGTGGAAATATGCAATTGATTCTGTTCTTGAAGTTCATATAAGAAGGTATACACAGATGTGGTCATGGA
GTAACATAAAAAAGCACAGGCAGTTACTCAAGAGTTATAAAATTGCCTACAAAAACAAGTTAACACAGTCTAAAGTCTCAGAAGAAATAC
AGAAAGAAATTCAGGACTTGGAGAAGACTCTAGATGTTTTTAACATAATTTTAGCAAGGCAACAAGCACAAGTTGAGGTGATTCGGTCTG
GGCAAAAATTAAGGAAAAAGTCTGCTGACACAGGCGAGAAACGTGGAGGCTGGTTTAGTGGGTTGTGGGGTAAGAAAGAGTCTAAGAAAA
AGGACGAAGAATCATTGATTCCTGAAACTATTGATGACCTTATGACTCCAGAGGAAAAAGATAAACTCTTCACTGCCATTGGTTATAGTG
AGAGTACCCACAACCTAACTTTACCTAAGCAGTATGTTGCCCATATTATGACCCTGAAGTTAGTAAGCACCTCTGTTACGATAAGAGAAA
ACAAGAATATTCCAGAAATACTAAAAATTCAGATAATTGGCCTGGGCACTCAAGTATCTCAGCGACCAGGAGCACAAGCACTTAAGGTAG
AAGCGAAATTAGAACACTGGTATATAACAGGTTTGAGACAGCAGGATATTGTGCCATCACTTGTGGCTTCAATTGGTGACACTACATCAT
CCTTGCTTAAAATTAAATTTGAAACCAATCCGGAGGATAGTCCTGCTGACCAGACTCTGATTGTTCAGTCCCAGCCTGTGGAGGTCATCT
ATGATGCTAAAACTGTCAATGCAGTGGTTGAATTCTTTCAATCAAATAAGGGATTGGATCTTGAGCAAATAACATCAGCAACATTGATGA
AGCTGGAAGAAATTAAGGAGAGAACAGCTACAGGACTTACACATATTATTGAAACTCGAAAAGTCCTTGATTTAAGGATAAATCTGAAGC
CTTCTTATCTAGTAGTTCCACAGACGGGTTTCCACCATGAAAAGTCAGATCTTCTGATTTTAGATTTTGGTACATTTCAGCTCAACAGTA
AAGATCAAGGTTTACAGAAGACTACTAATTCATCTCTGGAAGAAATAATGGATAAGGCATATGACAAGTTTGATGTTGAAATAAAAAATG
TACAACTACTTTTTGCAAGAGCAGAGGAAACCTGGAAAAAGTGTCGATTTCAGCATCCATCAACTATGCATATATTGCAACCCATGGATA
TTCATGTTGAGTTGGCTAAGGCCATGGTAGAAAAAGACATTAGAATGGCCAGATTTAAAGTGTCAGGAGGACTTCCTTTGATGCATGTGA
GAATTTCTGACCAGAAGATGAAAGATGTGCTATATTTGATGAACAGTATACCTTTGCCACAGAAATCATCAGCCCAGTCTCCAGAGAGAC
AGGTATCCTCAATTCCTATTATTTCAGGTGGTACAAAAGGTCTACTTGGTACTTCACTATTGCTAGACACTGTGGAATCAGAGTCTGATG
ATGAGTATTTTGATGCTGAAGATGGAGAACCACAGACTTGTAAAAGTATGAAAGGATCAGAACTTAAAAAAGCTGCAGAGGTCCCAAATG
AGGAGCTCATCAATCTTCTACTCAAGTTTGAAATTAAAGAAGTGATTTTGGAATTTACTAAACAGCAGAAAGAAGAAGATACAATTCTAG
TATTTAATGTTACTCAGTTAGGAACAGAGGCCACAATGAGAACATTTGACTTAACTGTGGTATCTTATTTAAAGAAAATCAGCTTGGATT
ATCATGAAATTGAAGGATCCAAAAGGAAGCCCCTTCACTTGATTAGCTCTTCTGACAAACCTGGATTAGATCTTTTGAAAGTGGAGTATA
TTAAGGCTGATAAGAATGGACCTAGTTTTCAAACTGCTTTTGGAAAAACTGAACAAACAGTTAAGGTGGCCTTTTCATCTTTAAATCTGT
TGCTGCAAACACAAGCTCTTGTCGCTTCTATTAATTACCTCACAACCATTATTCCATCTGATGATCAAAGCATAAGTGTTGCTAAGGAGG
TACAAATTTCAACTGAAAAACAACAAAAAAATTCAACTCTGCCAAAAGCGATTGTATCCTCCAGAGATAGTGACATTATTGATTTCAGGC
TATTTGCCAAGTTGAATGCTTTCTGTGTCATTGTTTGCAACGAAAAGAACAATATCGCCGAAATCAAGATTCAAGGACTGGATTCCTCCC
TTTCTCTCCAGTCAAGAAAGCAGTCACTTTTTGCCCGACTAGAAAATATTATTGTCACAGATGTTGATCCAAAGACAGTTCATAAGAAAG
CTGTGTCAATAATGGGAAATGAAGTTTTCCGTTTTAATTTGGATTTGTATCCAGATGCTACTGAGGGGGATTTGTATACTGACATGTCCA
AAGTGGATGGTGTGCTGTCTCTGAATGTTGGCTGTATTCAGATTGTCTATCTTCATAAATTCCTTATGTCACTTCTGAACTTCCTGAATA
ATTTCCAGACAGCCAAAGAGTCTCTGAGTGCTGCCACTGCCCAGGCTGCAGAAAGGGCTGCCACAAGTGTGAAAGATCTTGCCCAGAGGA
GTTTTCGTGTTTCCATCAATATTGATTTGAAAGCACCGGTTATAGTCATCCCACAGTCTTCTATTTCCACCAATGCAGTAGTGGTAGATC
TTGGGTTAATCAGAGTTCATAATCAGTTCAGTCTGGTGTCTGATGAAGACTACTTAAATCCTCCAGTAATTGATAGAATGGATGTGCAGC
TAACAAAGCTTACACTTTATAGGACAGTGATCCAGCCAGGCATCTACCATCCTGATATTCAGCTGTTGCACCCAATTAACTTGGAATTTC
TTGTAAATCGGAATCTAGCTGCATCTTGGTACCACAAGGTGCCTGTTGTGGAAATTAAAGGACATCTTGATTCAATGAATGTTAGTCTAA
ATCAAGAAGATCTTAATCTTTTATTTAGGATACTAACAGAAAATCTCTGTGAGGGTACTGAAGACTTGGATAAAGTGAAACCAAGAGTAC
AAGAGACAGGTGAAATTAAAGAGCCCCTTGAAATCTCTATATCACAAGATGTACATGATTCAAAAAATACTTTAACAACTGGAGTGGAAG
AAATTAGGTCTGTAGACATCATTAATATGCTGCTGAATTTTGAAATTAAAGAGGTTGTGGTTACTTTGATGAAAAAATCAGAAAAGAAAG
GAAGGCCTTTACATGAGCTAAATGTCCTGCAACTTGGAATGGAAGCTAAAGTTAAAACCTATGACATGACTGCTAAAGCTTATCTAAAAA
AAATTAGTATGCAGTGCTTTGATTTCACTGACTCTAAAGGGGAACCTCTTCACATTATTAACTCTTCTAATGTGACTGACGAACCCCTTC
TGAAAATGTTACTGACAAAGGCAGACAGTGATGGACCAGAATTTAAAACTATTCATGACAGTACCAAACAGAGACTGAAGGTTTCATTTG
CATCCTTAGACTTAGTACTTCATTTGGAAGCTTTACTTTCCTTCATGGATTTTTTATCATCTGCTGCTCCATTCTCTGAGCCTTCCTCTT
CTGAGAAGGAATCCGAGCTGAAACCACTTGTGGGGGAGTCCAGAAGTATCGCTGTCAAAGCTGTATCCAGCAACATTTCCCAAAAGGATG
TGTTTGATTTAAAGATCACAGCTGAATTAAATGCATTTAATGTCTTTGTCTGTGATCAGAAGTGTAACATTGCAGATATTAAAATACATG
GAATGGATGCCTCTATTTCTGTGAAGCCTAAGCAGACTGATGTGTTTGCCAGACTTAAAGATATTATAGTTATGAATGTAGATTTGCAGT
CCATTCACAAAAAGGCTGTCTCTATTTTGGGAGATGAAGTCTTTAGGTTCCAACTGACTCTTTATCCAGATGCCACAGAAGGAGAGGCCT
ATGCTGATATGTCCAAAGTAGACGGCAAACTTAGTTTTAAAGTGGGTTGTATTCAGATTGTTTATGTTCATAAATTCTTCATGTCTCTTT
TGAACTTCCTCAACAATTTCCAAACTGCTAAAGAAGCTTTGAGTACAGCCACAGTCCAGGCTGCAGAAAGAGCTGCTTCCAGCATGAAAG
ACTTGGCTCAAAAGAGTTTCCGCCTTTTGATGGATATTAATTTGAAAGCACCAGTTATTATTATTCCTCAGTCTTCAGTATCACCTAATG
CTGTTATAGCAGATCTGGGTTTAATCAGAGTTGAAAACAAGTTTAGCTTGGTTCCTATGGAACATTATTCTCTTCCTCCAGTCATTGATA
AAATGAACATCGAACTCACTCAGTTGAAGCTGTCAAGAACTATTTTGCAGGCTAGCTTGCCACAAAATGACATTGAAATTTTAAAACCAG
TCAACATGCTTTTGTCCATACAGCGAAACTTAGCAGCAGCATGGTATGTGCAAATTCCAGGGATGGAGATAAAAGGAAAACTAAAACCTA
TGCAGGTGGCTGCAGTCCGAGAAGGGATGTCCTGGATTGTTCCTGTGCCGCTGCTGTCCCTCCTCACAGCAAAACAACTGGAGCAGATGG
TGTGTGGGATGCCCGAGATCTCTGTGGAAGTCTTGAAGAAAGTGGTGCGGTACCGTGAGGTGGATGAGCAGCATCAGCTGGTGCAGTGGT
TCTGGCACACGCTGGAAGAGTTCTCCAATGAGGAGCGGGTGCTTTTCATGAGGTTTGTGTCAGGAAGATCTCGACTACCAGCCAACACTG
CTGACATTTCTCAGAGATTTCAAATCATGAAGGTTGATAGGCCTTACGACAGTCTGCCTACCTCACAGACCTGCTTCTTCCAGCTGAGGC
TGCCCCCGTACTCCAGCCAGCTGGTCATGGCCGAGCGCCTGCGCTATGCCATCAACAACTGCCGCTCAATCGACATGGACAACTACATGC
TCTCGAGAAACGTGGACAACGCCGAGGGCTCCGACACTGACTACTGACCGTGCGGGTGCTCTCACCCTCCCTTCTCTCCCTCAATAATGC
TCACTTCTGATTTGATGTTGATATACTTTTATGGTAACTACATAGATGTTATAAGAACATAAACCAACATTATAAACAATGGCCACATTT
AGTTACTCTAAATGTAACAAAGAAATTAGATGTTTTTATTTTTCTGTGATTGTACAAAAACAACAAAAACGAAGTGCTCTCAGTCAGGTT
TTTCCCTCCATATTTTTGGTCACTTTTGATAAGTTTGCATGAAACCATTTTGGTGCATTTTTAGTTGGGAATGGTACATTTTTGTAAATC
CACCCAGTGAACATGAAATTGTACATTGTGTATAATTGTTCATTAGAAAGGACAGTTTTACATGAATATTCATATATTTATTTTGTTTTA

>In-frame_VPS13C_ENST00000395898_chr15_62232846_-_HERC1_ENST00000443617_chr15_63904755_-_6501nt
TGCAGCGCTGGTCGCAGCCCTCAGCTGCGCCGGGCGGTTCCGGCTCCTCCCTCTCCTTGTGCCTCAGCGCCACCATGGTGCTGGAGTCGG
TGGTCGCGGACTTGCTGAACCGCTTCCTGGGGGACTATGTGGAGAACCTGAACAAGTCCCAGCTGAAGCTGGGCATCTGGGGCGGAAATG
TGGCTTTAGATAATCTACAGATAAAAGAAAATGCCCTGAGTGAATTGGATGTTCCTTTTAAAGTCAAGGCTGGCCAAATTGATAAATTAA
CTTTGAAGATTCCTTGGAAGAACCTTTATGGAGAAGCAGTTGTTGCGACCCTGGAAGGATTATACCTGCTTGTTGTCCCTGGAGCAAGTA
TTAAGTATGATGCTGTAAAAGAAGAAAAATCCTTGCAGGATGTTAAACAGAAAGAGCTATCCCGAATTGAAGAAGCCCTTCAAAAAGCAG
CAGAAAAAGATAAGCCAAAAGAAGCCAAAAAGGATACATTTGTGGAAAAATTGGCAACTCAAGTAATAAAAAATGTACAAGTAAAAATCA
CAGATATTCACATTAAATATGAAGATGATGTCACTGATCCAAAGCGGCCTCTTTCATTTGGTGTCACACTGGGAGAGCTTAGTCTACTGA
CTGCAAATGAACACTGGACTCCATGCATATTAAATGAAGCAGACAAAATTATATACAAGCTTATACGACTTGATAGTCTTAGCGCCTACT
GGAATGTAAATTGCAGCATGTCTTACCAGAGATCAAGGGAACAGATTTTGGATCAGCTGAAAAATGAAATTCTTACAAGTGGAAATATAC
CCCCAAATTATCAATACATTTTCCAGCCAATATCAGCCTCTGCAAAACTCTACATGAATCCTTATGCAGAATCAGAGCTCAAAACGCCCA
AACTGGATTGCAACATAGAAATACAAAATATTGCCATTGAACTGACCAAACCTCAGTACTTAAGTATGATTGACCTTTTGGAGTCAGTGG
ATTATATGGTTAGGAATGCGCCTTATAGGAAATACAAGCCTTATTTACCACTTCATACCAATGGTCGACGATGGTGGAAATATGCAATTG
ATTCTGTTCTTGAAGTTCATATAAGAAGGTATACACAGATGTGGTCATGGAGTAACATAAAAAAGCACAGGCAGTTACTCAAGAGTTATA
AAATTGCCTACAAAAACAAGTTAACACAGTCTAAAGTCTCAGAAGAAATACAGAAAGAAATTCAGGACTTGGAGAAGACTCTAGATGTTT
TTAACATAATTTTAGCAAGGCAACAAGCACAAGTTGAGGTGATTCGGTCTGGGCAAAAATTAAGGAAAAAGTCTGCTGACACAGGCGAGA
AACGTGGAGGCTGGTTTAGTGGGTTGTGGGGTAAGAAAGAGTCTAAGAAAAAGGACGAAGAATCATTGATTCCTGAAACTATTGATGACC
TTATGACTCCAGAGGAAAAAGATAAACTCTTCACTGCCATTGGTTATAGTGAGAGTACCCACAACCTAACTTTACCTAAGCAGTATGTTG
CCCATATTATGACCCTGAAGTTAGTAAGCACCTCTGTTACGATAAGAGAAAACAAGAATATTCCAGAAATACTAAAAATTCAGATAATTG
GCCTGGGCACTCAAGTATCTCAGCGACCAGGAGCACAAGCACTTAAGGTAGAAGCGAAATTAGAACACTGGTATATAACAGGTTTGAGAC
AGCAGGATATTGTGCCATCACTTGTGGCTTCAATTGGTGACACTACATCATCCTTGCTTAAAATTAAATTTGAAACCAATCCGGAGGATA
GTCCTGCTGACCAGACTCTGATTGTTCAGTCCCAGCCTGTGGAGGTCATCTATGATGCTAAAACTGTCAATGCAGTGGTTGAATTCTTTC
AATCAAATAAGGGATTGGATCTTGAGCAAATAACATCAGCAACATTGATGAAGCTGGAAGAAATTAAGGAGAGAACAGCTACAGGACTTA
CACATATTATTGAAACTCGAAAAGTCCTTGATTTAAGGATAAATCTGAAGCCTTCTTATCTAGTAGTTCCACAGACGGGTTTCCACCATG
AAAAGTCAGATCTTCTGATTTTAGATTTTGGTACATTTCAGCTCAACAGTAAAGATCAAGGTTTACAGAAGACTACTAATTCATCTCTGG
AAGAAATAATGGATAAGGCATATGACAAGTTTGATGTTGAAATAAAAAATGTACAACTACTTTTTGCAAGAGCAGAGGAAACCTGGAAAA
AGTGTCGATTTCAGCATCCATCAACTATGCATATATTGCAACCCATGGATATTCATGTTGAGTTGGCTAAGGCCATGGTAGAAAAAGACA
TTAGAATGGCCAGATTTAAAGTGTCAGGAGGACTTCCTTTGATGCATGTGAGAATTTCTGACCAGAAGATGAAAGATGTGCTATATTTGA
TGAACAGTATACCTTTGCCACAGAAATCATCAGCCCAGTCTCCAGAGAGACAGGTATCCTCAATTCCTATTATTTCAGGTGGTACAAAAG
GTCTACTTGGTACTTCACTATTGCTAGACACTGTGGAATCAGAGTCTGATGATGAGTATTTTGATGCTGAAGATGGAGAACCACAGACTT
GTAAAAGTATGAAAGGATCAGAACTTAAAAAAGCTGCAGAGGTCCCAAATGAGGAGCTCATCAATCTTCTACTCAAGTTTGAAATTAAAG
AAGTGATTTTGGAATTTACTAAACAGCAGAAAGAAGAAGATACAATTCTAGTATTTAATGTTACTCAGTTAGGAACAGAGGCCACAATGA
GAACATTTGACTTAACTGTGGTATCTTATTTAAAGAAAATCAGCTTGGATTATCATGAAATTGAAGGATCCAAAAGGAAGCCCCTTCACT
TGATTAGCTCTTCTGACAAACCTGGATTAGATCTTTTGAAAGTGGAGTATATTAAGGCTGATAAGAATGGACCTAGTTTTCAAACTGCTT
TTGGAAAAACTGAACAAACAGTTAAGGTGGCCTTTTCATCTTTAAATCTGTTGCTGCAAACACAAGCTCTTGTCGCTTCTATTAATTACC
TCACAACCATTATTCCATCTGATGATCAAAGCATAAGTGTTGCTAAGGAGGTACAAATTTCAACTGAAAAACAACAAAAAAATTCAACTC
TGCCAAAAGCGATTGTATCCTCCAGAGATAGTGACATTATTGATTTCAGGCTATTTGCCAAGTTGAATGCTTTCTGTGTCATTGTTTGCA
ACGAAAAGAACAATATCGCCGAAATCAAGATTCAAGGACTGGATTCCTCCCTTTCTCTCCAGTCAAGAAAGCAGTCACTTTTTGCCCGAC
TAGAAAATATTATTGTCACAGATGTTGATCCAAAGACAGTTCATAAGAAAGCTGTGTCAATAATGGGAAATGAAGTTTTCCGTTTTAATT
TGGATTTGTATCCAGATGCTACTGAGGGGGATTTGTATACTGACATGTCCAAAGTGGATGGTGTGCTGTCTCTGAATGTTGGCTGTATTC
AGATTGTCTATCTTCATAAATTCCTTATGTCACTTCTGAACTTCCTGAATAATTTCCAGACAGCCAAAGAGTCTCTGAGTGCTGCCACTG
CCCAGGCTGCAGAAAGGGCTGCCACAAGTGTGAAAGATCTTGCCCAGAGGAGTTTTCGTGTTTCCATCAATATTGATTTGAAAGCACCGG
TTATAGTCATCCCACAGTCTTCTATTTCCACCAATGCAGTAGTGGTAGATCTTGGGTTAATCAGAGTTCATAATCAGTTCAGTCTGGTGT
CTGATGAAGACTACTTAAATCCTCCAGTAATTGATAGAATGGATGTGCAGCTAACAAAGCTTACACTTTATAGGACAGTGATCCAGCCAG
GCATCTACCATCCTGATATTCAGCTGTTGCACCCAATTAACTTGGAATTTCTTGTAAATCGGAATCTAGCTGCATCTTGGTACCACAAGG
TGCCTGTTGTGGAAATTAAAGGACATCTTGATTCAATGAATGTTAGTCTAAATCAAGAAGATCTTAATCTTTTATTTAGGATACTAACAG
AAAATCTCTGTGAGGGTACTGAAGACTTGGATAAAGTGAAACCAAGAGTACAAGAGACAGGTGAAATTAAAGAGCCCCTTGAAATCTCTA
TATCACAAGATGTACATGATTCAAAAAATACTTTAACAACTGGAGTGGAAGAAATTAGGTCTGTAGACATCATTAATATGCTGCTGAATT
TTGAAATTAAAGAGGTTGTGGTTACTTTGATGAAAAAATCAGAAAAGAAAGGAAGGCCTTTACATGAGCTAAATGTCCTGCAACTTGGAA
TGGAAGCTAAAGTTAAAACCTATGACATGACTGCTAAAGCTTATCTAAAAAAAATTAGTATGCAGTGCTTTGATTTCACTGACTCTAAAG
GGGAACCTCTTCACATTATTAACTCTTCTAATGTGACTGACGAACCCCTTCTGAAAATGTTACTGACAAAGGCAGACAGTGATGGACCAG
AATTTAAAACTATTCATGACAGTACCAAACAGAGACTGAAGGTTTCATTTGCATCCTTAGACTTAGTACTTCATTTGGAAGCTTTACTTT
CCTTCATGGATTTTTTATCATCTGCTGCTCCATTCTCTGAGCCTTCCTCTTCTGAGAAGGAATCCGAGCTGAAACCACTTGTGGGGGAGT
CCAGAAGTATCGCTGTCAAAGCTGTATCCAGCAACATTTCCCAAAAGGATGTGTTTGATTTAAAGATCACAGCTGAATTAAATGCATTTA
ATGTCTTTGTCTGTGATCAGAAGTGTAACATTGCAGATATTAAAATACATGGAATGGATGCCTCTATTTCTGTGAAGCCTAAGCAGACTG
ATGTGTTTGCCAGACTTAAAGATATTATAGTTATGAATGTAGATTTGCAGTCCATTCACAAAAAGGCTGTCTCTATTTTGGGAGATGAAG
TCTTTAGGTTCCAACTGACTCTTTATCCAGATGCCACAGAAGGAGAGGCCTATGCTGATATGTCCAAAGTAGACGGCAAACTTAGTTTTA
AAGTGGGTTGTATTCAGATTGTTTATGTTCATAAATTCTTCATGTCTCTTTTGAACTTCCTCAACAATTTCCAAACTGCTAAAGAAGCTT
TGAGTACAGCCACAGTCCAGGCTGCAGAAAGAGCTGCTTCCAGCATGAAAGACTTGGCTCAAAAGAGTTTCCGCCTTTTGATGGATATTA
ATTTGAAAGCACCAGTTATTATTATTCCTCAGTCTTCAGTATCACCTAATGCTGTTATAGCAGATCTGGGTTTAATCAGAGTTGAAAACA
AGTTTAGCTTGGTTCCTATGGAACATTATTCTCTTCCTCCAGTCATTGATAAAATGAACATCGAACTCACTCAGTTGAAGCTGTCAAGAA
CTATTTTGCAGGCTAGCTTGCCACAAAATGACATTGAAATTTTAAAACCAGTCAACATGCTTTTGTCCATACAGCGAAACTTAGCAGCAG
CATGGTATGTGCAAATTCCAGGGATGGAGATAAAAGGAAAACTAAAACCTATGCAGGTGGCTGCAGTCCGAGAAGGGATGTCCTGGATTG
TTCCTGTGCCGCTGCTGTCCCTCCTCACAGCAAAACAACTGGAGCAGATGGTGTGTGGGATGCCCGAGATCTCTGTGGAAGTCTTGAAGA
AAGTGGTGCGGTACCGTGAGGTGGATGAGCAGCATCAGCTGGTGCAGTGGTTCTGGCACACGCTGGAAGAGTTCTCCAATGAGGAGCGGG
TGCTTTTCATGAGGTTTGTGTCAGGAAGATCTCGACTACCAGCCAACACTGCTGACATTTCTCAGAGATTTCAAATCATGAAGGTTGATA
GGCCTTACGACAGTCTGCCTACCTCACAGACCTGCTTCTTCCAGCTGAGGCTGCCCCCGTACTCCAGCCAGCTGGTCATGGCCGAGCGCC
TGCGCTATGCCATCAACAACTGCCGCTCAATCGACATGGACAACTACATGCTCTCGAGAAACGTGGACAACGCCGAGGGCTCCGACACTG
ACTACTGACCGTGCGGGTGCTCTCACCCTCCCTTCTCTCCCTCAATAATGCTCACTTCTGATTTGATGTTGATATACTTTTATGGTAACT
ACATAGATGTTATAAGAACATAAACCAACATTATAAACAATGGCCACATTTAGTTACTCTAAATGTAACAAAGAAATTAGATGTTTTTAT
TTTTCTGTGATTGTACAAAAACAACAAAAACGAAGTGCTCTCAGTCAGGTTTTTCCCTCCATATTTTTGGTCACTTTTGATAAGTTTGCA
TGAAACCATTTTGGTGCATTTTTAGTTGGGAATGGTACATTTTTGTAAATCCACCCAGTGAACATGAAATTGTACATTGTGTATAATTGT
TCATTAGAAAGGACAGTTTTACATGAATATTCATATATTTATTTTGTTTTAATTTGAATTGCCTGTTCAGGGTTCCTTATGCAGAGAAAT


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FusionGenePPI for VPS13C_HERC1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
VPS13CLGALS12, FAF2, UBXN4, DNAJC7, RNF19B, RAB9A, IER3IP1, VAPA, RAB1A, RAB30, FAM78B, HMGCLL1, LINC01587, ARPC5, VAPBHERC1DFFA, PKM, EP300, ARF1, TSC2, CLTC, NOS2, SOX9, UBE2D3, BYSL, GRIPAP1, KCMF1, MYL12A, BAK1, BRCA1, MORC1, RSPH10B2, MLF1, ECHS1, RAPSN, DNM3, USP18, TFDP3, ARHGAP29, TTLL1, UNK, HERC2, HERC1, UBE2S, EGFR, SSH3, IFIT1B, WDFY3, TIGD6, CCDC65, GCNT3, TRPC4AP, CSNK1A1, NEUROG3, C1orf87, RAPGEF5, ZBBX, SMOX, TPTE2, ZNF610, FMO5, ZNF223, ZNF571, VPS36, ZNF555, RABGEF1, ZNF563, UBC


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for VPS13C_HERC1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for VPS13C_HERC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneVPS13CC4225186PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET1UNIPROT