|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 7995 |
FusionGeneSummary for COL6A2_MYH9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COL6A2_MYH9 | Fusion gene ID: 7995 | Hgene | Tgene | Gene symbol | COL6A2 | MYH9 | Gene ID | 1292 | 4627 |
| Gene name | collagen type VI alpha 2 chain | myosin heavy chain 9 | |
| Synonyms | BTHLM1|PP3610|UCMD1 | BDPLT6|DFNA17|EPSTS|FTNS|MHA|NMHC-II-A|NMMHC-IIA|NMMHCA | |
| Cytomap | 21q22.3 | 22q12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | collagen alpha-2(VI) chaincollagen VI, alpha-2 polypeptidecollagen, type VI, alpha 2human mRNA for collagen VI alpha-2 C-terminal globular domain | myosin-9cellular myosin heavy chain, type Amyosin, heavy chain 9, non-musclenon-muscle myosin heavy chain 9non-muscle myosin heavy chain Anon-muscle myosin heavy chain IIanon-muscle myosin heavy polypeptide 9nonmuscle myosin heavy chain II-A | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P12110 | P35579 | |
| Ensembl transtripts involved in fusion gene | ENST00000300527, ENST00000310645, ENST00000357838, ENST00000409416, ENST00000397763, ENST00000460886, | ENST00000216181, ENST00000475726, ENST00000401701, | |
| Fusion gene scores | * DoF score | 7 X 6 X 5=210 | 23 X 25 X 7=4025 |
| # samples | 7 | 28 | |
| ** MAII score | log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(28/4025*10)=-3.84549005094438 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: COL6A2 [Title/Abstract] AND MYH9 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 |
| Tgene | MYH9 | GO:0001525 | angiogenesis | 16403913 |
| Tgene | MYH9 | GO:0006509 | membrane protein ectodomain proteolysis | 16186248 |
| Tgene | MYH9 | GO:0030048 | actin filament-based movement | 12237319|15845534 |
| Tgene | MYH9 | GO:0031032 | actomyosin structure organization | 24072716 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | HNSC | TCGA-HD-7831-01A | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 | ENST00000300527 | ENST00000216181 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| 5CDS-intron | ENST00000300527 | ENST00000475726 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| 5CDS-intron | ENST00000300527 | ENST00000401701 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| In-frame | ENST00000310645 | ENST00000216181 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| 5CDS-intron | ENST00000310645 | ENST00000475726 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| 5CDS-intron | ENST00000310645 | ENST00000401701 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| In-frame | ENST00000357838 | ENST00000216181 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| 5CDS-intron | ENST00000357838 | ENST00000475726 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| 5CDS-intron | ENST00000357838 | ENST00000401701 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| In-frame | ENST00000409416 | ENST00000216181 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| 5CDS-intron | ENST00000409416 | ENST00000475726 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| 5CDS-intron | ENST00000409416 | ENST00000401701 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| In-frame | ENST00000397763 | ENST00000216181 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| 5CDS-intron | ENST00000397763 | ENST00000475726 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| 5CDS-intron | ENST00000397763 | ENST00000401701 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| intron-3CDS | ENST00000460886 | ENST00000216181 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| intron-intron | ENST00000460886 | ENST00000475726 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
| intron-intron | ENST00000460886 | ENST00000401701 | COL6A2 | chr21 | 47542072 | + | MYH9 | chr22 | 36695088 | - |
Top |
FusionProtFeatures for COL6A2_MYH9 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| COL6A2 | MYH9 |
| Cellular myosin that appears to play a role incytokinesis, cell shape, and specialized functions such assecretion and capping. During cell spreading, plays an importantrole in cytoskeleton reorganization, focal contacts formation (inthe margins but not the central part of spreading cells), andlamellipodial retraction; this function is mechanicallyantagonized by MYH10. {ECO:0000269|PubMed:20052411}. |
| 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 . * 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 |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000300527 | + | 19 | 28 | 46_234 | 524 | 1020 | Domain | VWFA 1 |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000310645 | + | 19 | 28 | 46_234 | 524 | 829 | Domain | VWFA 1 |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000357838 | + | 19 | 28 | 46_234 | 524 | 919 | Domain | VWFA 1 |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000397763 | + | 18 | 27 | 46_234 | 524 | 919 | Domain | VWFA 1 |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000409416 | + | 18 | 27 | 46_234 | 524 | 829 | Domain | VWFA 1 |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000300527 | + | 19 | 28 | 366_368 | 524 | 1020 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000300527 | + | 19 | 28 | 426_428 | 524 | 1020 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000300527 | + | 19 | 28 | 489_491 | 524 | 1020 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000300527 | + | 19 | 28 | 498_500 | 524 | 1020 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000310645 | + | 19 | 28 | 366_368 | 524 | 829 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000310645 | + | 19 | 28 | 426_428 | 524 | 829 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000310645 | + | 19 | 28 | 489_491 | 524 | 829 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000310645 | + | 19 | 28 | 498_500 | 524 | 829 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000357838 | + | 19 | 28 | 366_368 | 524 | 919 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000357838 | + | 19 | 28 | 426_428 | 524 | 919 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000357838 | + | 19 | 28 | 489_491 | 524 | 919 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000357838 | + | 19 | 28 | 498_500 | 524 | 919 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000397763 | + | 18 | 27 | 366_368 | 524 | 919 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000397763 | + | 18 | 27 | 426_428 | 524 | 919 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000397763 | + | 18 | 27 | 489_491 | 524 | 919 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000397763 | + | 18 | 27 | 498_500 | 524 | 919 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000409416 | + | 18 | 27 | 366_368 | 524 | 829 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000409416 | + | 18 | 27 | 426_428 | 524 | 829 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000409416 | + | 18 | 27 | 489_491 | 524 | 829 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000409416 | + | 18 | 27 | 498_500 | 524 | 829 | Motif | Cell attachment site |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000300527 | + | 19 | 28 | 21_256 | 524 | 1020 | Region | Note=Nonhelical region |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000310645 | + | 19 | 28 | 21_256 | 524 | 829 | Region | Note=Nonhelical region |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000357838 | + | 19 | 28 | 21_256 | 524 | 919 | Region | Note=Nonhelical region |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000397763 | + | 18 | 27 | 21_256 | 524 | 919 | Region | Note=Nonhelical region |
| Hgene | COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000409416 | + | 18 | 27 | 21_256 | 524 | 829 | Region | Note=Nonhelical region |
| - 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 |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000300527 | + | 19 | 28 | 615_805 | 524 | 1020 | Domain | VWFA 2 |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000300527 | + | 19 | 28 | 833_1014 | 524 | 1020 | Domain | VWFA 3 |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000310645 | + | 19 | 28 | 615_805 | 524 | 829 | Domain | VWFA 2 |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000310645 | + | 19 | 28 | 833_1014 | 524 | 829 | Domain | VWFA 3 |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000357838 | + | 19 | 28 | 615_805 | 524 | 919 | Domain | VWFA 2 |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000357838 | + | 19 | 28 | 833_1014 | 524 | 919 | Domain | VWFA 3 |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000397763 | + | 18 | 27 | 615_805 | 524 | 919 | Domain | VWFA 2 |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000397763 | + | 18 | 27 | 833_1014 | 524 | 919 | Domain | VWFA 3 |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000409416 | + | 18 | 27 | 615_805 | 524 | 829 | Domain | VWFA 2 |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000409416 | + | 18 | 27 | 833_1014 | 524 | 829 | Domain | VWFA 3 |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000300527 | + | 19 | 28 | 539_541 | 524 | 1020 | Motif | Cell attachment site |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000310645 | + | 19 | 28 | 539_541 | 524 | 829 | Motif | Cell attachment site |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000357838 | + | 19 | 28 | 539_541 | 524 | 919 | Motif | Cell attachment site |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000397763 | + | 18 | 27 | 539_541 | 524 | 919 | Motif | Cell attachment site |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000409416 | + | 18 | 27 | 539_541 | 524 | 829 | Motif | Cell attachment site |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000300527 | + | 19 | 28 | 257_590 | 524 | 1020 | Region | Note=Triple-helical region |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000300527 | + | 19 | 28 | 591_1019 | 524 | 1020 | Region | Note=Nonhelical region |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000310645 | + | 19 | 28 | 257_590 | 524 | 829 | Region | Note=Triple-helical region |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000310645 | + | 19 | 28 | 591_1019 | 524 | 829 | Region | Note=Nonhelical region |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000357838 | + | 19 | 28 | 257_590 | 524 | 919 | Region | Note=Triple-helical region |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000357838 | + | 19 | 28 | 591_1019 | 524 | 919 | Region | Note=Nonhelical region |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000397763 | + | 18 | 27 | 257_590 | 524 | 919 | Region | Note=Triple-helical region |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000397763 | + | 18 | 27 | 591_1019 | 524 | 919 | Region | Note=Nonhelical region |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000409416 | + | 18 | 27 | 257_590 | 524 | 829 | Region | Note=Triple-helical region |
| Hgene | >COL6A2 | chr21:47542072 | chr22:36695088 | ENST00000409416 | + | 18 | 27 | 591_1019 | 524 | 829 | Region | Note=Nonhelical region |
| Tgene | MYH9 | chr21:47542072 | chr22:36695088 | ENST00000216181 | - | 22 | 41 | 837_1926 | 992 | 1961 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | MYH9 | chr21:47542072 | chr22:36695088 | ENST00000216181 | - | 22 | 41 | 27_77 | 992 | 1961 | Domain | Myosin N-terminal SH3-like |
| Tgene | MYH9 | chr21:47542072 | chr22:36695088 | ENST00000216181 | - | 22 | 41 | 779_808 | 992 | 1961 | Domain | IQ |
| Tgene | MYH9 | chr21:47542072 | chr22:36695088 | ENST00000216181 | - | 22 | 41 | 81_776 | 992 | 1961 | Domain | Myosin motor |
| Tgene | MYH9 | chr21:47542072 | chr22:36695088 | ENST00000216181 | - | 22 | 41 | 174_181 | 992 | 1961 | Nucleotide binding | ATP |
| Tgene | MYH9 | chr21:47542072 | chr22:36695088 | ENST00000216181 | - | 22 | 41 | 654_676 | 992 | 1961 | Region | Note=Actin-binding |
Top |
FusionGeneSequence for COL6A2_MYH9 |
| 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_COL6A2_ENST00000300527_chr21_47542072_+_MYH9_ENST00000216181_chr22_36695088_-_1493aa MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQSPTDILLFHMKQFVPQFISQLQNEFYLDQV ALSWRYGGLHFSDQVEVFSPPGSDRASFIKNLQGISSFRRGTFTDCALANMTEQIRQDRSKGTVHFAVVITDGHVTGSPCGGIKLQAERA REEGIRLFAVAPNQNLKEQGLRDIASTPHELYRNDYATMLPDSTEIDQDTINRIIKVMKHEAYGECYKVSCLEIPGPSGPKGYRGQKGAK GNMGEPGEPGQKGRQGDPGIEGPIGFPGPKGVPGFKGEKGEFGADGRKGAPGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEA GSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGTQGNSGAPGSPGVKGAKGGPGPRGPKGEPGRRGDPGTKGSPGSDGPKGEKGDPGPE GPRGLAGEVGNKGAKGDRGLPGPRGPQGALGEPGKQGSRGDPGDAGPRGDSGQPGPKGDPGRPGFSYPGPRGAPEKKLLEDRIAEFTTNL TEEEEKSKSLAKLKNKHEAMITDLEERLRREEKQRQELEKTRRKLEGDSTDLSDQIAELQAQIAELKMQLAKKEEELQAALARVEEEAAQ KNMALKKIRELESQISELQEDLESERASRNKAEKQKRDLGEELEALKTELEDTLDSTAAQQELRSKREQEVNILKKTLEEEAKTHEAQIQ EMRQKHSQAVEELAEQLEQTKRVKANLEKAKQTLENERGELANEVKVLLQGKGDSEHKRKKVEAQLQELQVKFNEGERVRTELADKVTKL QVELDNVTGLLSQSDSKSSKLTKDFSALESQLQDTQELLQEENRQKLSLSTKLKQVEDEKNSFREQLEEEEEAKHNLEKQIATLHAQVAD MKKKMEDSVGCLETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQQELDDLLVDLDHQRQSACNLEKKQKKFDQLLAEEKTISA KTAEERDRAEAEAREKETKALSLARALEEAMEQKAELERLNKQFRTEMEDLMSSKDDVGKSVHELEKSKRALEQQVEEMKTQLEELEDEL QATEDAKLRLEVNLQAMKAQFERDLQGRDEQSEEKKKQLVRQVREMEAELEDERKQRSMAVAARKKLEMDLKDLEAHIDSANKNRDEAIK QLRKLQAQMKDCMRELDDTRASREEILAQAKENEKKLKSMEAEMIQLQEELAAAERAKRQAQQERDELADEIANSSGKGALALEEKRRLE ARIAQLEEELEEEQGNTELINDRLKKANLQIDQINTDLNLERSHAQKNENARQQLERQNKELKVKLQEMEGTVKSKYKASITALEAKIAQ LEEQLDNETKERQAACKQVRRTEKKLKDVLLQVDDERRNAEQYKDQADKASTRLKQLKRQLEEAEEEAQRANASRRKLQRELEDATETAD >In-frame_COL6A2_ENST00000310645_chr21_47542072_+_MYH9_ENST00000216181_chr22_36695088_-_1493aa MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQSPTDILLFHMKQFVPQFISQLQNEFYLDQV ALSWRYGGLHFSDQVEVFSPPGSDRASFIKNLQGISSFRRGTFTDCALANMTEQIRQDRSKGTVHFAVVITDGHVTGSPCGGIKLQAERA REEGIRLFAVAPNQNLKEQGLRDIASTPHELYRNDYATMLPDSTEIDQDTINRIIKVMKHEAYGECYKVSCLEIPGPSGPKGYRGQKGAK GNMGEPGEPGQKGRQGDPGIEGPIGFPGPKGVPGFKGEKGEFGADGRKGAPGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEA GSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGTQGNSGAPGSPGVKGAKGGPGPRGPKGEPGRRGDPGTKGSPGSDGPKGEKGDPGPE GPRGLAGEVGNKGAKGDRGLPGPRGPQGALGEPGKQGSRGDPGDAGPRGDSGQPGPKGDPGRPGFSYPGPRGAPEKKLLEDRIAEFTTNL TEEEEKSKSLAKLKNKHEAMITDLEERLRREEKQRQELEKTRRKLEGDSTDLSDQIAELQAQIAELKMQLAKKEEELQAALARVEEEAAQ KNMALKKIRELESQISELQEDLESERASRNKAEKQKRDLGEELEALKTELEDTLDSTAAQQELRSKREQEVNILKKTLEEEAKTHEAQIQ EMRQKHSQAVEELAEQLEQTKRVKANLEKAKQTLENERGELANEVKVLLQGKGDSEHKRKKVEAQLQELQVKFNEGERVRTELADKVTKL QVELDNVTGLLSQSDSKSSKLTKDFSALESQLQDTQELLQEENRQKLSLSTKLKQVEDEKNSFREQLEEEEEAKHNLEKQIATLHAQVAD MKKKMEDSVGCLETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQQELDDLLVDLDHQRQSACNLEKKQKKFDQLLAEEKTISA KTAEERDRAEAEAREKETKALSLARALEEAMEQKAELERLNKQFRTEMEDLMSSKDDVGKSVHELEKSKRALEQQVEEMKTQLEELEDEL QATEDAKLRLEVNLQAMKAQFERDLQGRDEQSEEKKKQLVRQVREMEAELEDERKQRSMAVAARKKLEMDLKDLEAHIDSANKNRDEAIK QLRKLQAQMKDCMRELDDTRASREEILAQAKENEKKLKSMEAEMIQLQEELAAAERAKRQAQQERDELADEIANSSGKGALALEEKRRLE ARIAQLEEELEEEQGNTELINDRLKKANLQIDQINTDLNLERSHAQKNENARQQLERQNKELKVKLQEMEGTVKSKYKASITALEAKIAQ LEEQLDNETKERQAACKQVRRTEKKLKDVLLQVDDERRNAEQYKDQADKASTRLKQLKRQLEEAEEEAQRANASRRKLQRELEDATETAD >In-frame_COL6A2_ENST00000357838_chr21_47542072_+_MYH9_ENST00000216181_chr22_36695088_-_1493aa MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQSPTDILLFHMKQFVPQFISQLQNEFYLDQV ALSWRYGGLHFSDQVEVFSPPGSDRASFIKNLQGISSFRRGTFTDCALANMTEQIRQDRSKGTVHFAVVITDGHVTGSPCGGIKLQAERA REEGIRLFAVAPNQNLKEQGLRDIASTPHELYRNDYATMLPDSTEIDQDTINRIIKVMKHEAYGECYKVSCLEIPGPSGPKGYRGQKGAK GNMGEPGEPGQKGRQGDPGIEGPIGFPGPKGVPGFKGEKGEFGADGRKGAPGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEA GSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGTQGNSGAPGSPGVKGAKGGPGPRGPKGEPGRRGDPGTKGSPGSDGPKGEKGDPGPE GPRGLAGEVGNKGAKGDRGLPGPRGPQGALGEPGKQGSRGDPGDAGPRGDSGQPGPKGDPGRPGFSYPGPRGAPEKKLLEDRIAEFTTNL TEEEEKSKSLAKLKNKHEAMITDLEERLRREEKQRQELEKTRRKLEGDSTDLSDQIAELQAQIAELKMQLAKKEEELQAALARVEEEAAQ KNMALKKIRELESQISELQEDLESERASRNKAEKQKRDLGEELEALKTELEDTLDSTAAQQELRSKREQEVNILKKTLEEEAKTHEAQIQ EMRQKHSQAVEELAEQLEQTKRVKANLEKAKQTLENERGELANEVKVLLQGKGDSEHKRKKVEAQLQELQVKFNEGERVRTELADKVTKL QVELDNVTGLLSQSDSKSSKLTKDFSALESQLQDTQELLQEENRQKLSLSTKLKQVEDEKNSFREQLEEEEEAKHNLEKQIATLHAQVAD MKKKMEDSVGCLETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQQELDDLLVDLDHQRQSACNLEKKQKKFDQLLAEEKTISA KTAEERDRAEAEAREKETKALSLARALEEAMEQKAELERLNKQFRTEMEDLMSSKDDVGKSVHELEKSKRALEQQVEEMKTQLEELEDEL QATEDAKLRLEVNLQAMKAQFERDLQGRDEQSEEKKKQLVRQVREMEAELEDERKQRSMAVAARKKLEMDLKDLEAHIDSANKNRDEAIK QLRKLQAQMKDCMRELDDTRASREEILAQAKENEKKLKSMEAEMIQLQEELAAAERAKRQAQQERDELADEIANSSGKGALALEEKRRLE ARIAQLEEELEEEQGNTELINDRLKKANLQIDQINTDLNLERSHAQKNENARQQLERQNKELKVKLQEMEGTVKSKYKASITALEAKIAQ LEEQLDNETKERQAACKQVRRTEKKLKDVLLQVDDERRNAEQYKDQADKASTRLKQLKRQLEEAEEEAQRANASRRKLQRELEDATETAD >In-frame_COL6A2_ENST00000409416_chr21_47542072_+_MYH9_ENST00000216181_chr22_36695088_-_1493aa MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQSPTDILLFHMKQFVPQFISQLQNEFYLDQV ALSWRYGGLHFSDQVEVFSPPGSDRASFIKNLQGISSFRRGTFTDCALANMTEQIRQDRSKGTVHFAVVITDGHVTGSPCGGIKLQAERA REEGIRLFAVAPNQNLKEQGLRDIASTPHELYRNDYATMLPDSTEIDQDTINRIIKVMKHEAYGECYKVSCLEIPGPSGPKGYRGQKGAK GNMGEPGEPGQKGRQGDPGIEGPIGFPGPKGVPGFKGEKGEFGADGRKGAPGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEA GSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGTQGNSGAPGSPGVKGAKGGPGPRGPKGEPGRRGDPGTKGSPGSDGPKGEKGDPGPE GPRGLAGEVGNKGAKGDRGLPGPRGPQGALGEPGKQGSRGDPGDAGPRGDSGQPGPKGDPGRPGFSYPGPRGAPEKKLLEDRIAEFTTNL TEEEEKSKSLAKLKNKHEAMITDLEERLRREEKQRQELEKTRRKLEGDSTDLSDQIAELQAQIAELKMQLAKKEEELQAALARVEEEAAQ KNMALKKIRELESQISELQEDLESERASRNKAEKQKRDLGEELEALKTELEDTLDSTAAQQELRSKREQEVNILKKTLEEEAKTHEAQIQ EMRQKHSQAVEELAEQLEQTKRVKANLEKAKQTLENERGELANEVKVLLQGKGDSEHKRKKVEAQLQELQVKFNEGERVRTELADKVTKL QVELDNVTGLLSQSDSKSSKLTKDFSALESQLQDTQELLQEENRQKLSLSTKLKQVEDEKNSFREQLEEEEEAKHNLEKQIATLHAQVAD MKKKMEDSVGCLETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQQELDDLLVDLDHQRQSACNLEKKQKKFDQLLAEEKTISA KTAEERDRAEAEAREKETKALSLARALEEAMEQKAELERLNKQFRTEMEDLMSSKDDVGKSVHELEKSKRALEQQVEEMKTQLEELEDEL QATEDAKLRLEVNLQAMKAQFERDLQGRDEQSEEKKKQLVRQVREMEAELEDERKQRSMAVAARKKLEMDLKDLEAHIDSANKNRDEAIK QLRKLQAQMKDCMRELDDTRASREEILAQAKENEKKLKSMEAEMIQLQEELAAAERAKRQAQQERDELADEIANSSGKGALALEEKRRLE ARIAQLEEELEEEQGNTELINDRLKKANLQIDQINTDLNLERSHAQKNENARQQLERQNKELKVKLQEMEGTVKSKYKASITALEAKIAQ LEEQLDNETKERQAACKQVRRTEKKLKDVLLQVDDERRNAEQYKDQADKASTRLKQLKRQLEEAEEEAQRANASRRKLQRELEDATETAD >In-frame_COL6A2_ENST00000397763_chr21_47542072_+_MYH9_ENST00000216181_chr22_36695088_-_1493aa MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQSPTDILLFHMKQFVPQFISQLQNEFYLDQV ALSWRYGGLHFSDQVEVFSPPGSDRASFIKNLQGISSFRRGTFTDCALANMTEQIRQDRSKGTVHFAVVITDGHVTGSPCGGIKLQAERA REEGIRLFAVAPNQNLKEQGLRDIASTPHELYRNDYATMLPDSTEIDQDTINRIIKVMKHEAYGECYKVSCLEIPGPSGPKGYRGQKGAK GNMGEPGEPGQKGRQGDPGIEGPIGFPGPKGVPGFKGEKGEFGADGRKGAPGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEA GSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGTQGNSGAPGSPGVKGAKGGPGPRGPKGEPGRRGDPGTKGSPGSDGPKGEKGDPGPE GPRGLAGEVGNKGAKGDRGLPGPRGPQGALGEPGKQGSRGDPGDAGPRGDSGQPGPKGDPGRPGFSYPGPRGAPEKKLLEDRIAEFTTNL TEEEEKSKSLAKLKNKHEAMITDLEERLRREEKQRQELEKTRRKLEGDSTDLSDQIAELQAQIAELKMQLAKKEEELQAALARVEEEAAQ KNMALKKIRELESQISELQEDLESERASRNKAEKQKRDLGEELEALKTELEDTLDSTAAQQELRSKREQEVNILKKTLEEEAKTHEAQIQ EMRQKHSQAVEELAEQLEQTKRVKANLEKAKQTLENERGELANEVKVLLQGKGDSEHKRKKVEAQLQELQVKFNEGERVRTELADKVTKL QVELDNVTGLLSQSDSKSSKLTKDFSALESQLQDTQELLQEENRQKLSLSTKLKQVEDEKNSFREQLEEEEEAKHNLEKQIATLHAQVAD MKKKMEDSVGCLETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQQELDDLLVDLDHQRQSACNLEKKQKKFDQLLAEEKTISA KTAEERDRAEAEAREKETKALSLARALEEAMEQKAELERLNKQFRTEMEDLMSSKDDVGKSVHELEKSKRALEQQVEEMKTQLEELEDEL QATEDAKLRLEVNLQAMKAQFERDLQGRDEQSEEKKKQLVRQVREMEAELEDERKQRSMAVAARKKLEMDLKDLEAHIDSANKNRDEAIK QLRKLQAQMKDCMRELDDTRASREEILAQAKENEKKLKSMEAEMIQLQEELAAAERAKRQAQQERDELADEIANSSGKGALALEEKRRLE ARIAQLEEELEEEQGNTELINDRLKKANLQIDQINTDLNLERSHAQKNENARQQLERQNKELKVKLQEMEGTVKSKYKASITALEAKIAQ LEEQLDNETKERQAACKQVRRTEKKLKDVLLQVDDERRNAEQYKDQADKASTRLKQLKRQLEEAEEEAQRANASRRKLQRELEDATETAD |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_COL6A2_ENST00000300527_chr21_47542072_+_MYH9_ENST00000216181_chr22_36695088_-_4479nt ATGCTCCAGGGCACCTGCTCCGTGCTCCTGCTCTGGGGAATCCTGGGGGCCATCCAGGCCCAGCAGCAGGAGGTCATCTCGCCGGACACT ACCGAGAGAAACAACAACTGCCCAGAGAAGACCGACTGCCCCATCCACGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCATGCAG TCCCCCACGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTG GCGCTGAGCTGGCGCTACGGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAG AACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGC AAGGGCACCGTCCACTTCGCCGTGGTCATCACCGACGGCCACGTCACCGGCAGCCCCTGCGGGGGCATCAAGCTGCAGGCCGAGCGGGCC CGCGAGGAGGGCATCCGGCTCTTCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAG CTCTACCGCAACGACTACGCCACCATGCTGCCCGACTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCAAGGTCATGAAACAC GAAGCCTACGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGGTGCCAAG GGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAG GGCGTTCCTGGCTTCAAAGGAGAGAAGGGTGAATTTGGAGCCGACGGTCGCAAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGAT GGACAGAAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGGCCCCGACGGTTACCCGGGGGAAGCA GGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAG GGAAGCAAGGGGTATCAAGGCAACAGTGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCGCGGACCCAAA GGCGAGCCGGGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAGCGATGGCCCCAAGGGGGAGAAGGGGGACCCTGGCCCTGAG GGGCCCCGCGGCCTGGCTGGAGAGGTTGGCAACAAAGGAGCCAAGGGAGACCGAGGCTTGCCTGGACCCAGAGGCCCCCAGGGAGCTCTT GGGGAGCCCGGAAAGCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGGAGACCCC GGCAGGCCTGGATTCAGCTACCCAGGACCCCGAGGAGCACCCGAAAAGAAACTGCTGGAAGACAGAATAGCTGAGTTCACCACCAACCTC ACAGAAGAGGAGGAGAAATCTAAGAGCCTCGCCAAGCTCAAGAACAAGCATGAGGCAATGATCACTGACTTGGAAGAGCGCCTCCGCAGG GAGGAGAAGCAGCGACAGGAGCTGGAGAAGACCCGCCGGAAGCTGGAGGGAGACTCCACAGACCTCAGCGACCAGATCGCCGAGCTCCAG GCCCAGATCGCGGAGCTCAAGATGCAGCTGGCCAAGAAAGAGGAGGAGCTCCAGGCCGCCCTGGCCAGAGTGGAAGAGGAAGCTGCCCAG AAGAACATGGCCCTCAAGAAGATCCGGGAGCTGGAATCTCAGATCTCTGAACTCCAGGAAGACCTGGAGTCTGAGCGTGCTTCCAGGAAT AAAGCTGAGAAGCAGAAACGGGACCTTGGGGAAGAGCTAGAGGCTCTGAAAACAGAGTTGGAGGACACGCTGGATTCCACAGCTGCCCAG CAGGAGCTCAGGTCAAAACGTGAGCAGGAGGTGAACATCCTGAAGAAGACCCTGGAGGAGGAGGCCAAGACCCACGAGGCCCAGATCCAG GAGATGAGGCAGAAGCACTCACAGGCCGTGGAGGAGCTGGCGGAGCAGCTGGAGCAGACGAAGCGGGTGAAAGCAAACCTCGAGAAGGCA AAGCAGACTCTGGAGAACGAGCGGGGGGAGCTGGCCAACGAGGTGAAGGTGCTGCTGCAGGGCAAAGGGGACTCGGAGCACAAGCGCAAG AAAGTGGAGGCGCAGCTGCAGGAGCTGCAGGTCAAGTTCAACGAGGGAGAGCGCGTGCGCACAGAGCTGGCCGACAAGGTCACCAAGCTG CAGGTGGAGCTGGACAACGTGACCGGGCTTCTCAGCCAGTCCGACAGCAAGTCCAGCAAGCTCACCAAGGACTTCTCCGCGCTGGAGTCC CAGCTGCAGGACACTCAGGAGCTGCTGCAGGAGGAGAACCGGCAGAAGCTGAGCCTGAGCACCAAGCTCAAGCAGGTGGAGGACGAGAAG AATTCCTTCCGGGAGCAGCTGGAGGAGGAGGAGGAGGCCAAGCACAACCTGGAGAAGCAGATCGCCACCCTCCATGCCCAGGTGGCCGAC ATGAAAAAGAAGATGGAGGACAGTGTGGGGTGCCTGGAAACTGCTGAGGAGGTGAAGAGGAAGCTCCAGAAGGACCTGGAGGGCCTGAGC CAGCGGCACGAGGAGAAGGTGGCCGCCTACGACAAGCTGGAGAAGACCAAGACGCGGCTGCAGCAGGAGCTGGACGACCTGCTGGTGGAC CTGGACCACCAGCGCCAGAGCGCGTGCAACCTGGAGAAGAAGCAGAAGAAGTTTGACCAGCTCCTGGCGGAGGAGAAGACCATCTCTGCC AAGTATGCAGAGGAGCGCGACCGGGCTGAGGCGGAGGCCCGAGAGAAGGAGACCAAGGCTCTGTCGCTGGCCCGGGCCCTGGAGGAAGCC ATGGAGCAGAAGGCGGAGCTGGAGCGGCTCAACAAGCAGTTCCGCACGGAGATGGAGGACCTTATGAGCTCCAAGGATGATGTGGGCAAG AGTGTCCACGAGCTGGAGAAGTCCAAGCGGGCCCTAGAGCAGCAGGTGGAGGAGATGAAGACGCAGCTGGAAGAGCTGGAGGACGAGCTG CAGGCCACCGAAGATGCCAAGCTGCGGTTGGAGGTCAACCTGCAGGCCATGAAGGCCCAGTTCGAGCGGGACCTGCAGGGCCGGGACGAG CAGAGCGAGGAGAAGAAGAAGCAGCTGGTCAGACAGGTGCGGGAGATGGAGGCAGAGCTGGAGGACGAGAGGAAGCAGCGCTCGATGGCA GTGGCCGCCCGGAAGAAGCTGGAGATGGACCTGAAGGACCTGGAGGCGCACATCGACTCGGCCAACAAGAACCGGGACGAAGCCATCAAA CAGCTGCGGAAGCTGCAGGCCCAGATGAAGGACTGCATGCGCGAGCTGGATGACACCCGCGCCTCTCGTGAGGAGATCCTGGCCCAGGCC AAAGAGAACGAGAAGAAGCTGAAGAGCATGGAGGCCGAGATGATCCAGTTGCAGGAGGAACTGGCAGCCGCGGAGCGTGCCAAGCGCCAG GCCCAGCAGGAGCGGGATGAGCTGGCTGACGAGATCGCCAACAGCAGCGGCAAAGGAGCCCTGGCGTTAGAGGAGAAGCGGCGTCTGGAG GCCCGCATCGCCCAGCTGGAGGAGGAGCTGGAGGAGGAGCAGGGCAACACGGAGCTGATCAACGACCGGCTGAAGAAGGCCAACCTGCAG ATCGACCAGATCAACACCGACCTGAACCTGGAGCGCAGCCACGCCCAGAAGAACGAGAATGCTCGGCAGCAGCTGGAACGCCAGAACAAG GAGCTTAAGGTCAAGCTGCAGGAGATGGAGGGCACTGTCAAGTCCAAGTACAAGGCCTCCATCACCGCCCTCGAGGCCAAGATTGCACAG CTGGAGGAGCAGCTGGACAACGAGACCAAGGAGCGCCAGGCAGCCTGCAAACAGGTGCGTCGGACCGAGAAGAAGCTGAAGGATGTGCTG CTGCAGGTGGATGACGAGCGGAGGAACGCCGAGCAGTACAAGGACCAGGCCGACAAGGCATCTACCCGCCTGAAGCAGCTCAAGCGGCAG CTGGAGGAGGCCGAAGAGGAGGCCCAGCGGGCCAACGCCTCCCGCCGGAAACTGCAGCGCGAGCTGGAGGACGCCACTGAGACGGCCGAT GCCATGAACCGCGAAGTCAGCTCCCTAAAGAACAAGCTCAGGCGCGGGGACCTGCCGTTTGTCGTGCCCCGCCGAATGGCCCGGAAAGGC >In-frame_COL6A2_ENST00000310645_chr21_47542072_+_MYH9_ENST00000216181_chr22_36695088_-_4479nt ATGCTCCAGGGCACCTGCTCCGTGCTCCTGCTCTGGGGAATCCTGGGGGCCATCCAGGCCCAGCAGCAGGAGGTCATCTCGCCGGACACT ACCGAGAGAAACAACAACTGCCCAGAGAAGACCGACTGCCCCATCCACGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCATGCAG TCCCCCACGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTG GCGCTGAGCTGGCGCTACGGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAG AACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGC AAGGGCACCGTCCACTTCGCCGTGGTCATCACCGACGGCCACGTCACCGGCAGCCCCTGCGGGGGCATCAAGCTGCAGGCCGAGCGGGCC CGCGAGGAGGGCATCCGGCTCTTCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAG CTCTACCGCAACGACTACGCCACCATGCTGCCCGACTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCAAGGTCATGAAACAC GAAGCCTACGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGGTGCCAAG GGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAG GGCGTTCCTGGCTTCAAAGGAGAGAAGGGTGAATTTGGAGCCGACGGTCGCAAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGAT GGACAGAAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGGCCCCGACGGTTACCCGGGGGAAGCA GGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAG GGAAGCAAGGGGTATCAAGGCAACAGTGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCGCGGACCCAAA GGCGAGCCGGGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAGCGATGGCCCCAAGGGGGAGAAGGGGGACCCTGGCCCTGAG GGGCCCCGCGGCCTGGCTGGAGAGGTTGGCAACAAAGGAGCCAAGGGAGACCGAGGCTTGCCTGGACCCAGAGGCCCCCAGGGAGCTCTT GGGGAGCCCGGAAAGCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGGAGACCCC GGCAGGCCTGGATTCAGCTACCCAGGACCCCGAGGAGCACCCGAAAAGAAACTGCTGGAAGACAGAATAGCTGAGTTCACCACCAACCTC ACAGAAGAGGAGGAGAAATCTAAGAGCCTCGCCAAGCTCAAGAACAAGCATGAGGCAATGATCACTGACTTGGAAGAGCGCCTCCGCAGG GAGGAGAAGCAGCGACAGGAGCTGGAGAAGACCCGCCGGAAGCTGGAGGGAGACTCCACAGACCTCAGCGACCAGATCGCCGAGCTCCAG GCCCAGATCGCGGAGCTCAAGATGCAGCTGGCCAAGAAAGAGGAGGAGCTCCAGGCCGCCCTGGCCAGAGTGGAAGAGGAAGCTGCCCAG AAGAACATGGCCCTCAAGAAGATCCGGGAGCTGGAATCTCAGATCTCTGAACTCCAGGAAGACCTGGAGTCTGAGCGTGCTTCCAGGAAT AAAGCTGAGAAGCAGAAACGGGACCTTGGGGAAGAGCTAGAGGCTCTGAAAACAGAGTTGGAGGACACGCTGGATTCCACAGCTGCCCAG CAGGAGCTCAGGTCAAAACGTGAGCAGGAGGTGAACATCCTGAAGAAGACCCTGGAGGAGGAGGCCAAGACCCACGAGGCCCAGATCCAG GAGATGAGGCAGAAGCACTCACAGGCCGTGGAGGAGCTGGCGGAGCAGCTGGAGCAGACGAAGCGGGTGAAAGCAAACCTCGAGAAGGCA AAGCAGACTCTGGAGAACGAGCGGGGGGAGCTGGCCAACGAGGTGAAGGTGCTGCTGCAGGGCAAAGGGGACTCGGAGCACAAGCGCAAG AAAGTGGAGGCGCAGCTGCAGGAGCTGCAGGTCAAGTTCAACGAGGGAGAGCGCGTGCGCACAGAGCTGGCCGACAAGGTCACCAAGCTG CAGGTGGAGCTGGACAACGTGACCGGGCTTCTCAGCCAGTCCGACAGCAAGTCCAGCAAGCTCACCAAGGACTTCTCCGCGCTGGAGTCC CAGCTGCAGGACACTCAGGAGCTGCTGCAGGAGGAGAACCGGCAGAAGCTGAGCCTGAGCACCAAGCTCAAGCAGGTGGAGGACGAGAAG AATTCCTTCCGGGAGCAGCTGGAGGAGGAGGAGGAGGCCAAGCACAACCTGGAGAAGCAGATCGCCACCCTCCATGCCCAGGTGGCCGAC ATGAAAAAGAAGATGGAGGACAGTGTGGGGTGCCTGGAAACTGCTGAGGAGGTGAAGAGGAAGCTCCAGAAGGACCTGGAGGGCCTGAGC CAGCGGCACGAGGAGAAGGTGGCCGCCTACGACAAGCTGGAGAAGACCAAGACGCGGCTGCAGCAGGAGCTGGACGACCTGCTGGTGGAC CTGGACCACCAGCGCCAGAGCGCGTGCAACCTGGAGAAGAAGCAGAAGAAGTTTGACCAGCTCCTGGCGGAGGAGAAGACCATCTCTGCC AAGTATGCAGAGGAGCGCGACCGGGCTGAGGCGGAGGCCCGAGAGAAGGAGACCAAGGCTCTGTCGCTGGCCCGGGCCCTGGAGGAAGCC ATGGAGCAGAAGGCGGAGCTGGAGCGGCTCAACAAGCAGTTCCGCACGGAGATGGAGGACCTTATGAGCTCCAAGGATGATGTGGGCAAG AGTGTCCACGAGCTGGAGAAGTCCAAGCGGGCCCTAGAGCAGCAGGTGGAGGAGATGAAGACGCAGCTGGAAGAGCTGGAGGACGAGCTG CAGGCCACCGAAGATGCCAAGCTGCGGTTGGAGGTCAACCTGCAGGCCATGAAGGCCCAGTTCGAGCGGGACCTGCAGGGCCGGGACGAG CAGAGCGAGGAGAAGAAGAAGCAGCTGGTCAGACAGGTGCGGGAGATGGAGGCAGAGCTGGAGGACGAGAGGAAGCAGCGCTCGATGGCA GTGGCCGCCCGGAAGAAGCTGGAGATGGACCTGAAGGACCTGGAGGCGCACATCGACTCGGCCAACAAGAACCGGGACGAAGCCATCAAA CAGCTGCGGAAGCTGCAGGCCCAGATGAAGGACTGCATGCGCGAGCTGGATGACACCCGCGCCTCTCGTGAGGAGATCCTGGCCCAGGCC AAAGAGAACGAGAAGAAGCTGAAGAGCATGGAGGCCGAGATGATCCAGTTGCAGGAGGAACTGGCAGCCGCGGAGCGTGCCAAGCGCCAG GCCCAGCAGGAGCGGGATGAGCTGGCTGACGAGATCGCCAACAGCAGCGGCAAAGGAGCCCTGGCGTTAGAGGAGAAGCGGCGTCTGGAG GCCCGCATCGCCCAGCTGGAGGAGGAGCTGGAGGAGGAGCAGGGCAACACGGAGCTGATCAACGACCGGCTGAAGAAGGCCAACCTGCAG ATCGACCAGATCAACACCGACCTGAACCTGGAGCGCAGCCACGCCCAGAAGAACGAGAATGCTCGGCAGCAGCTGGAACGCCAGAACAAG GAGCTTAAGGTCAAGCTGCAGGAGATGGAGGGCACTGTCAAGTCCAAGTACAAGGCCTCCATCACCGCCCTCGAGGCCAAGATTGCACAG CTGGAGGAGCAGCTGGACAACGAGACCAAGGAGCGCCAGGCAGCCTGCAAACAGGTGCGTCGGACCGAGAAGAAGCTGAAGGATGTGCTG CTGCAGGTGGATGACGAGCGGAGGAACGCCGAGCAGTACAAGGACCAGGCCGACAAGGCATCTACCCGCCTGAAGCAGCTCAAGCGGCAG CTGGAGGAGGCCGAAGAGGAGGCCCAGCGGGCCAACGCCTCCCGCCGGAAACTGCAGCGCGAGCTGGAGGACGCCACTGAGACGGCCGAT GCCATGAACCGCGAAGTCAGCTCCCTAAAGAACAAGCTCAGGCGCGGGGACCTGCCGTTTGTCGTGCCCCGCCGAATGGCCCGGAAAGGC >In-frame_COL6A2_ENST00000357838_chr21_47542072_+_MYH9_ENST00000216181_chr22_36695088_-_4479nt ATGCTCCAGGGCACCTGCTCCGTGCTCCTGCTCTGGGGAATCCTGGGGGCCATCCAGGCCCAGCAGCAGGAGGTCATCTCGCCGGACACT ACCGAGAGAAACAACAACTGCCCAGAGAAGACCGACTGCCCCATCCACGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCATGCAG TCCCCCACGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTG GCGCTGAGCTGGCGCTACGGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAG AACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGC AAGGGCACCGTCCACTTCGCCGTGGTCATCACCGACGGCCACGTCACCGGCAGCCCCTGCGGGGGCATCAAGCTGCAGGCCGAGCGGGCC CGCGAGGAGGGCATCCGGCTCTTCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAG CTCTACCGCAACGACTACGCCACCATGCTGCCCGACTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCAAGGTCATGAAACAC GAAGCCTACGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGGTGCCAAG GGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAG GGCGTTCCTGGCTTCAAAGGAGAGAAGGGTGAATTTGGAGCCGACGGTCGCAAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGAT GGACAGAAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGGCCCCGACGGTTACCCGGGGGAAGCA GGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAG GGAAGCAAGGGGTATCAAGGCAACAGTGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCGCGGACCCAAA GGCGAGCCGGGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAGCGATGGCCCCAAGGGGGAGAAGGGGGACCCTGGCCCTGAG GGGCCCCGCGGCCTGGCTGGAGAGGTTGGCAACAAAGGAGCCAAGGGAGACCGAGGCTTGCCTGGACCCAGAGGCCCCCAGGGAGCTCTT GGGGAGCCCGGAAAGCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGGAGACCCC GGCAGGCCTGGATTCAGCTACCCAGGACCCCGAGGAGCACCCGAAAAGAAACTGCTGGAAGACAGAATAGCTGAGTTCACCACCAACCTC ACAGAAGAGGAGGAGAAATCTAAGAGCCTCGCCAAGCTCAAGAACAAGCATGAGGCAATGATCACTGACTTGGAAGAGCGCCTCCGCAGG GAGGAGAAGCAGCGACAGGAGCTGGAGAAGACCCGCCGGAAGCTGGAGGGAGACTCCACAGACCTCAGCGACCAGATCGCCGAGCTCCAG GCCCAGATCGCGGAGCTCAAGATGCAGCTGGCCAAGAAAGAGGAGGAGCTCCAGGCCGCCCTGGCCAGAGTGGAAGAGGAAGCTGCCCAG AAGAACATGGCCCTCAAGAAGATCCGGGAGCTGGAATCTCAGATCTCTGAACTCCAGGAAGACCTGGAGTCTGAGCGTGCTTCCAGGAAT AAAGCTGAGAAGCAGAAACGGGACCTTGGGGAAGAGCTAGAGGCTCTGAAAACAGAGTTGGAGGACACGCTGGATTCCACAGCTGCCCAG CAGGAGCTCAGGTCAAAACGTGAGCAGGAGGTGAACATCCTGAAGAAGACCCTGGAGGAGGAGGCCAAGACCCACGAGGCCCAGATCCAG GAGATGAGGCAGAAGCACTCACAGGCCGTGGAGGAGCTGGCGGAGCAGCTGGAGCAGACGAAGCGGGTGAAAGCAAACCTCGAGAAGGCA AAGCAGACTCTGGAGAACGAGCGGGGGGAGCTGGCCAACGAGGTGAAGGTGCTGCTGCAGGGCAAAGGGGACTCGGAGCACAAGCGCAAG AAAGTGGAGGCGCAGCTGCAGGAGCTGCAGGTCAAGTTCAACGAGGGAGAGCGCGTGCGCACAGAGCTGGCCGACAAGGTCACCAAGCTG CAGGTGGAGCTGGACAACGTGACCGGGCTTCTCAGCCAGTCCGACAGCAAGTCCAGCAAGCTCACCAAGGACTTCTCCGCGCTGGAGTCC CAGCTGCAGGACACTCAGGAGCTGCTGCAGGAGGAGAACCGGCAGAAGCTGAGCCTGAGCACCAAGCTCAAGCAGGTGGAGGACGAGAAG AATTCCTTCCGGGAGCAGCTGGAGGAGGAGGAGGAGGCCAAGCACAACCTGGAGAAGCAGATCGCCACCCTCCATGCCCAGGTGGCCGAC ATGAAAAAGAAGATGGAGGACAGTGTGGGGTGCCTGGAAACTGCTGAGGAGGTGAAGAGGAAGCTCCAGAAGGACCTGGAGGGCCTGAGC CAGCGGCACGAGGAGAAGGTGGCCGCCTACGACAAGCTGGAGAAGACCAAGACGCGGCTGCAGCAGGAGCTGGACGACCTGCTGGTGGAC CTGGACCACCAGCGCCAGAGCGCGTGCAACCTGGAGAAGAAGCAGAAGAAGTTTGACCAGCTCCTGGCGGAGGAGAAGACCATCTCTGCC AAGTATGCAGAGGAGCGCGACCGGGCTGAGGCGGAGGCCCGAGAGAAGGAGACCAAGGCTCTGTCGCTGGCCCGGGCCCTGGAGGAAGCC ATGGAGCAGAAGGCGGAGCTGGAGCGGCTCAACAAGCAGTTCCGCACGGAGATGGAGGACCTTATGAGCTCCAAGGATGATGTGGGCAAG AGTGTCCACGAGCTGGAGAAGTCCAAGCGGGCCCTAGAGCAGCAGGTGGAGGAGATGAAGACGCAGCTGGAAGAGCTGGAGGACGAGCTG CAGGCCACCGAAGATGCCAAGCTGCGGTTGGAGGTCAACCTGCAGGCCATGAAGGCCCAGTTCGAGCGGGACCTGCAGGGCCGGGACGAG CAGAGCGAGGAGAAGAAGAAGCAGCTGGTCAGACAGGTGCGGGAGATGGAGGCAGAGCTGGAGGACGAGAGGAAGCAGCGCTCGATGGCA GTGGCCGCCCGGAAGAAGCTGGAGATGGACCTGAAGGACCTGGAGGCGCACATCGACTCGGCCAACAAGAACCGGGACGAAGCCATCAAA CAGCTGCGGAAGCTGCAGGCCCAGATGAAGGACTGCATGCGCGAGCTGGATGACACCCGCGCCTCTCGTGAGGAGATCCTGGCCCAGGCC AAAGAGAACGAGAAGAAGCTGAAGAGCATGGAGGCCGAGATGATCCAGTTGCAGGAGGAACTGGCAGCCGCGGAGCGTGCCAAGCGCCAG GCCCAGCAGGAGCGGGATGAGCTGGCTGACGAGATCGCCAACAGCAGCGGCAAAGGAGCCCTGGCGTTAGAGGAGAAGCGGCGTCTGGAG GCCCGCATCGCCCAGCTGGAGGAGGAGCTGGAGGAGGAGCAGGGCAACACGGAGCTGATCAACGACCGGCTGAAGAAGGCCAACCTGCAG ATCGACCAGATCAACACCGACCTGAACCTGGAGCGCAGCCACGCCCAGAAGAACGAGAATGCTCGGCAGCAGCTGGAACGCCAGAACAAG GAGCTTAAGGTCAAGCTGCAGGAGATGGAGGGCACTGTCAAGTCCAAGTACAAGGCCTCCATCACCGCCCTCGAGGCCAAGATTGCACAG CTGGAGGAGCAGCTGGACAACGAGACCAAGGAGCGCCAGGCAGCCTGCAAACAGGTGCGTCGGACCGAGAAGAAGCTGAAGGATGTGCTG CTGCAGGTGGATGACGAGCGGAGGAACGCCGAGCAGTACAAGGACCAGGCCGACAAGGCATCTACCCGCCTGAAGCAGCTCAAGCGGCAG CTGGAGGAGGCCGAAGAGGAGGCCCAGCGGGCCAACGCCTCCCGCCGGAAACTGCAGCGCGAGCTGGAGGACGCCACTGAGACGGCCGAT GCCATGAACCGCGAAGTCAGCTCCCTAAAGAACAAGCTCAGGCGCGGGGACCTGCCGTTTGTCGTGCCCCGCCGAATGGCCCGGAAAGGC >In-frame_COL6A2_ENST00000409416_chr21_47542072_+_MYH9_ENST00000216181_chr22_36695088_-_4479nt ATGCTCCAGGGCACCTGCTCCGTGCTCCTGCTCTGGGGAATCCTGGGGGCCATCCAGGCCCAGCAGCAGGAGGTCATCTCGCCGGACACT ACCGAGAGAAACAACAACTGCCCAGAGAAGACCGACTGCCCCATCCACGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCATGCAG TCCCCCACGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTG GCGCTGAGCTGGCGCTACGGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAG AACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGC AAGGGCACCGTCCACTTCGCCGTGGTCATCACCGACGGCCACGTCACCGGCAGCCCCTGCGGGGGCATCAAGCTGCAGGCCGAGCGGGCC CGCGAGGAGGGCATCCGGCTCTTCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAG CTCTACCGCAACGACTACGCCACCATGCTGCCCGACTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCAAGGTCATGAAACAC GAAGCCTACGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGGTGCCAAG GGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAG GGCGTTCCTGGCTTCAAAGGAGAGAAGGGTGAATTTGGAGCCGACGGTCGCAAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGAT GGACAGAAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGGCCCCGACGGTTACCCGGGGGAAGCA GGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAG GGAAGCAAGGGGTATCAAGGCAACAGTGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCGCGGACCCAAA GGCGAGCCGGGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAGCGATGGCCCCAAGGGGGAGAAGGGGGACCCTGGCCCTGAG GGGCCCCGCGGCCTGGCTGGAGAGGTTGGCAACAAAGGAGCCAAGGGAGACCGAGGCTTGCCTGGACCCAGAGGCCCCCAGGGAGCTCTT GGGGAGCCCGGAAAGCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGGAGACCCC GGCAGGCCTGGATTCAGCTACCCAGGACCCCGAGGAGCACCCGAAAAGAAACTGCTGGAAGACAGAATAGCTGAGTTCACCACCAACCTC ACAGAAGAGGAGGAGAAATCTAAGAGCCTCGCCAAGCTCAAGAACAAGCATGAGGCAATGATCACTGACTTGGAAGAGCGCCTCCGCAGG GAGGAGAAGCAGCGACAGGAGCTGGAGAAGACCCGCCGGAAGCTGGAGGGAGACTCCACAGACCTCAGCGACCAGATCGCCGAGCTCCAG GCCCAGATCGCGGAGCTCAAGATGCAGCTGGCCAAGAAAGAGGAGGAGCTCCAGGCCGCCCTGGCCAGAGTGGAAGAGGAAGCTGCCCAG AAGAACATGGCCCTCAAGAAGATCCGGGAGCTGGAATCTCAGATCTCTGAACTCCAGGAAGACCTGGAGTCTGAGCGTGCTTCCAGGAAT AAAGCTGAGAAGCAGAAACGGGACCTTGGGGAAGAGCTAGAGGCTCTGAAAACAGAGTTGGAGGACACGCTGGATTCCACAGCTGCCCAG CAGGAGCTCAGGTCAAAACGTGAGCAGGAGGTGAACATCCTGAAGAAGACCCTGGAGGAGGAGGCCAAGACCCACGAGGCCCAGATCCAG GAGATGAGGCAGAAGCACTCACAGGCCGTGGAGGAGCTGGCGGAGCAGCTGGAGCAGACGAAGCGGGTGAAAGCAAACCTCGAGAAGGCA AAGCAGACTCTGGAGAACGAGCGGGGGGAGCTGGCCAACGAGGTGAAGGTGCTGCTGCAGGGCAAAGGGGACTCGGAGCACAAGCGCAAG AAAGTGGAGGCGCAGCTGCAGGAGCTGCAGGTCAAGTTCAACGAGGGAGAGCGCGTGCGCACAGAGCTGGCCGACAAGGTCACCAAGCTG CAGGTGGAGCTGGACAACGTGACCGGGCTTCTCAGCCAGTCCGACAGCAAGTCCAGCAAGCTCACCAAGGACTTCTCCGCGCTGGAGTCC CAGCTGCAGGACACTCAGGAGCTGCTGCAGGAGGAGAACCGGCAGAAGCTGAGCCTGAGCACCAAGCTCAAGCAGGTGGAGGACGAGAAG AATTCCTTCCGGGAGCAGCTGGAGGAGGAGGAGGAGGCCAAGCACAACCTGGAGAAGCAGATCGCCACCCTCCATGCCCAGGTGGCCGAC ATGAAAAAGAAGATGGAGGACAGTGTGGGGTGCCTGGAAACTGCTGAGGAGGTGAAGAGGAAGCTCCAGAAGGACCTGGAGGGCCTGAGC CAGCGGCACGAGGAGAAGGTGGCCGCCTACGACAAGCTGGAGAAGACCAAGACGCGGCTGCAGCAGGAGCTGGACGACCTGCTGGTGGAC CTGGACCACCAGCGCCAGAGCGCGTGCAACCTGGAGAAGAAGCAGAAGAAGTTTGACCAGCTCCTGGCGGAGGAGAAGACCATCTCTGCC AAGTATGCAGAGGAGCGCGACCGGGCTGAGGCGGAGGCCCGAGAGAAGGAGACCAAGGCTCTGTCGCTGGCCCGGGCCCTGGAGGAAGCC ATGGAGCAGAAGGCGGAGCTGGAGCGGCTCAACAAGCAGTTCCGCACGGAGATGGAGGACCTTATGAGCTCCAAGGATGATGTGGGCAAG AGTGTCCACGAGCTGGAGAAGTCCAAGCGGGCCCTAGAGCAGCAGGTGGAGGAGATGAAGACGCAGCTGGAAGAGCTGGAGGACGAGCTG CAGGCCACCGAAGATGCCAAGCTGCGGTTGGAGGTCAACCTGCAGGCCATGAAGGCCCAGTTCGAGCGGGACCTGCAGGGCCGGGACGAG CAGAGCGAGGAGAAGAAGAAGCAGCTGGTCAGACAGGTGCGGGAGATGGAGGCAGAGCTGGAGGACGAGAGGAAGCAGCGCTCGATGGCA GTGGCCGCCCGGAAGAAGCTGGAGATGGACCTGAAGGACCTGGAGGCGCACATCGACTCGGCCAACAAGAACCGGGACGAAGCCATCAAA CAGCTGCGGAAGCTGCAGGCCCAGATGAAGGACTGCATGCGCGAGCTGGATGACACCCGCGCCTCTCGTGAGGAGATCCTGGCCCAGGCC AAAGAGAACGAGAAGAAGCTGAAGAGCATGGAGGCCGAGATGATCCAGTTGCAGGAGGAACTGGCAGCCGCGGAGCGTGCCAAGCGCCAG GCCCAGCAGGAGCGGGATGAGCTGGCTGACGAGATCGCCAACAGCAGCGGCAAAGGAGCCCTGGCGTTAGAGGAGAAGCGGCGTCTGGAG GCCCGCATCGCCCAGCTGGAGGAGGAGCTGGAGGAGGAGCAGGGCAACACGGAGCTGATCAACGACCGGCTGAAGAAGGCCAACCTGCAG ATCGACCAGATCAACACCGACCTGAACCTGGAGCGCAGCCACGCCCAGAAGAACGAGAATGCTCGGCAGCAGCTGGAACGCCAGAACAAG GAGCTTAAGGTCAAGCTGCAGGAGATGGAGGGCACTGTCAAGTCCAAGTACAAGGCCTCCATCACCGCCCTCGAGGCCAAGATTGCACAG CTGGAGGAGCAGCTGGACAACGAGACCAAGGAGCGCCAGGCAGCCTGCAAACAGGTGCGTCGGACCGAGAAGAAGCTGAAGGATGTGCTG CTGCAGGTGGATGACGAGCGGAGGAACGCCGAGCAGTACAAGGACCAGGCCGACAAGGCATCTACCCGCCTGAAGCAGCTCAAGCGGCAG CTGGAGGAGGCCGAAGAGGAGGCCCAGCGGGCCAACGCCTCCCGCCGGAAACTGCAGCGCGAGCTGGAGGACGCCACTGAGACGGCCGAT GCCATGAACCGCGAAGTCAGCTCCCTAAAGAACAAGCTCAGGCGCGGGGACCTGCCGTTTGTCGTGCCCCGCCGAATGGCCCGGAAAGGC >In-frame_COL6A2_ENST00000397763_chr21_47542072_+_MYH9_ENST00000216181_chr22_36695088_-_4479nt ATGCTCCAGGGCACCTGCTCCGTGCTCCTGCTCTGGGGAATCCTGGGGGCCATCCAGGCCCAGCAGCAGGAGGTCATCTCGCCGGACACT ACCGAGAGAAACAACAACTGCCCAGAGAAGACCGACTGCCCCATCCACGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCATGCAG TCCCCCACGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTG GCGCTGAGCTGGCGCTACGGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAG AACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGC AAGGGCACCGTCCACTTCGCCGTGGTCATCACCGACGGCCACGTCACCGGCAGCCCCTGCGGGGGCATCAAGCTGCAGGCCGAGCGGGCC CGCGAGGAGGGCATCCGGCTCTTCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAG CTCTACCGCAACGACTACGCCACCATGCTGCCCGACTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCAAGGTCATGAAACAC GAAGCCTACGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGGTGCCAAG GGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAG GGCGTTCCTGGCTTCAAAGGAGAGAAGGGTGAATTTGGAGCCGACGGTCGCAAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGAT GGACAGAAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGGCCCCGACGGTTACCCGGGGGAAGCA GGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAG GGAAGCAAGGGGTATCAAGGCAACAGTGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCGCGGACCCAAA GGCGAGCCGGGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAGCGATGGCCCCAAGGGGGAGAAGGGGGACCCTGGCCCTGAG GGGCCCCGCGGCCTGGCTGGAGAGGTTGGCAACAAAGGAGCCAAGGGAGACCGAGGCTTGCCTGGACCCAGAGGCCCCCAGGGAGCTCTT GGGGAGCCCGGAAAGCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGGAGACCCC GGCAGGCCTGGATTCAGCTACCCAGGACCCCGAGGAGCACCCGAAAAGAAACTGCTGGAAGACAGAATAGCTGAGTTCACCACCAACCTC ACAGAAGAGGAGGAGAAATCTAAGAGCCTCGCCAAGCTCAAGAACAAGCATGAGGCAATGATCACTGACTTGGAAGAGCGCCTCCGCAGG GAGGAGAAGCAGCGACAGGAGCTGGAGAAGACCCGCCGGAAGCTGGAGGGAGACTCCACAGACCTCAGCGACCAGATCGCCGAGCTCCAG GCCCAGATCGCGGAGCTCAAGATGCAGCTGGCCAAGAAAGAGGAGGAGCTCCAGGCCGCCCTGGCCAGAGTGGAAGAGGAAGCTGCCCAG AAGAACATGGCCCTCAAGAAGATCCGGGAGCTGGAATCTCAGATCTCTGAACTCCAGGAAGACCTGGAGTCTGAGCGTGCTTCCAGGAAT AAAGCTGAGAAGCAGAAACGGGACCTTGGGGAAGAGCTAGAGGCTCTGAAAACAGAGTTGGAGGACACGCTGGATTCCACAGCTGCCCAG CAGGAGCTCAGGTCAAAACGTGAGCAGGAGGTGAACATCCTGAAGAAGACCCTGGAGGAGGAGGCCAAGACCCACGAGGCCCAGATCCAG GAGATGAGGCAGAAGCACTCACAGGCCGTGGAGGAGCTGGCGGAGCAGCTGGAGCAGACGAAGCGGGTGAAAGCAAACCTCGAGAAGGCA AAGCAGACTCTGGAGAACGAGCGGGGGGAGCTGGCCAACGAGGTGAAGGTGCTGCTGCAGGGCAAAGGGGACTCGGAGCACAAGCGCAAG AAAGTGGAGGCGCAGCTGCAGGAGCTGCAGGTCAAGTTCAACGAGGGAGAGCGCGTGCGCACAGAGCTGGCCGACAAGGTCACCAAGCTG CAGGTGGAGCTGGACAACGTGACCGGGCTTCTCAGCCAGTCCGACAGCAAGTCCAGCAAGCTCACCAAGGACTTCTCCGCGCTGGAGTCC CAGCTGCAGGACACTCAGGAGCTGCTGCAGGAGGAGAACCGGCAGAAGCTGAGCCTGAGCACCAAGCTCAAGCAGGTGGAGGACGAGAAG AATTCCTTCCGGGAGCAGCTGGAGGAGGAGGAGGAGGCCAAGCACAACCTGGAGAAGCAGATCGCCACCCTCCATGCCCAGGTGGCCGAC ATGAAAAAGAAGATGGAGGACAGTGTGGGGTGCCTGGAAACTGCTGAGGAGGTGAAGAGGAAGCTCCAGAAGGACCTGGAGGGCCTGAGC CAGCGGCACGAGGAGAAGGTGGCCGCCTACGACAAGCTGGAGAAGACCAAGACGCGGCTGCAGCAGGAGCTGGACGACCTGCTGGTGGAC CTGGACCACCAGCGCCAGAGCGCGTGCAACCTGGAGAAGAAGCAGAAGAAGTTTGACCAGCTCCTGGCGGAGGAGAAGACCATCTCTGCC AAGTATGCAGAGGAGCGCGACCGGGCTGAGGCGGAGGCCCGAGAGAAGGAGACCAAGGCTCTGTCGCTGGCCCGGGCCCTGGAGGAAGCC ATGGAGCAGAAGGCGGAGCTGGAGCGGCTCAACAAGCAGTTCCGCACGGAGATGGAGGACCTTATGAGCTCCAAGGATGATGTGGGCAAG AGTGTCCACGAGCTGGAGAAGTCCAAGCGGGCCCTAGAGCAGCAGGTGGAGGAGATGAAGACGCAGCTGGAAGAGCTGGAGGACGAGCTG CAGGCCACCGAAGATGCCAAGCTGCGGTTGGAGGTCAACCTGCAGGCCATGAAGGCCCAGTTCGAGCGGGACCTGCAGGGCCGGGACGAG CAGAGCGAGGAGAAGAAGAAGCAGCTGGTCAGACAGGTGCGGGAGATGGAGGCAGAGCTGGAGGACGAGAGGAAGCAGCGCTCGATGGCA GTGGCCGCCCGGAAGAAGCTGGAGATGGACCTGAAGGACCTGGAGGCGCACATCGACTCGGCCAACAAGAACCGGGACGAAGCCATCAAA CAGCTGCGGAAGCTGCAGGCCCAGATGAAGGACTGCATGCGCGAGCTGGATGACACCCGCGCCTCTCGTGAGGAGATCCTGGCCCAGGCC AAAGAGAACGAGAAGAAGCTGAAGAGCATGGAGGCCGAGATGATCCAGTTGCAGGAGGAACTGGCAGCCGCGGAGCGTGCCAAGCGCCAG GCCCAGCAGGAGCGGGATGAGCTGGCTGACGAGATCGCCAACAGCAGCGGCAAAGGAGCCCTGGCGTTAGAGGAGAAGCGGCGTCTGGAG GCCCGCATCGCCCAGCTGGAGGAGGAGCTGGAGGAGGAGCAGGGCAACACGGAGCTGATCAACGACCGGCTGAAGAAGGCCAACCTGCAG ATCGACCAGATCAACACCGACCTGAACCTGGAGCGCAGCCACGCCCAGAAGAACGAGAATGCTCGGCAGCAGCTGGAACGCCAGAACAAG GAGCTTAAGGTCAAGCTGCAGGAGATGGAGGGCACTGTCAAGTCCAAGTACAAGGCCTCCATCACCGCCCTCGAGGCCAAGATTGCACAG CTGGAGGAGCAGCTGGACAACGAGACCAAGGAGCGCCAGGCAGCCTGCAAACAGGTGCGTCGGACCGAGAAGAAGCTGAAGGATGTGCTG CTGCAGGTGGATGACGAGCGGAGGAACGCCGAGCAGTACAAGGACCAGGCCGACAAGGCATCTACCCGCCTGAAGCAGCTCAAGCGGCAG CTGGAGGAGGCCGAAGAGGAGGCCCAGCGGGCCAACGCCTCCCGCCGGAAACTGCAGCGCGAGCTGGAGGACGCCACTGAGACGGCCGAT GCCATGAACCGCGAAGTCAGCTCCCTAAAGAACAAGCTCAGGCGCGGGGACCTGCCGTTTGTCGTGCCCCGCCGAATGGCCCGGAAAGGC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_COL6A2_ENST00000300527_chr21_47542072_+_MYH9_ENST00000216181_chr22_36695088_-_5970nt CGGCCGCGGTTCCCTCCCTGCTGCTTACTCGGCGCCCGCGCCTCGGGCCGTCGGGAGCGGAGCCTCCTCGGGACCAGGACTTCAGGGCCA CAGGTGCTGCCAAGATGCTCCAGGGCACCTGCTCCGTGCTCCTGCTCTGGGGAATCCTGGGGGCCATCCAGGCCCAGCAGCAGGAGGTCA TCTCGCCGGACACTACCGAGAGAAACAACAACTGCCCAGAGAAGACCGACTGCCCCATCCACGTGTACTTCGTGCTGGACACCTCGGAGA GCGTCACCATGCAGTCCCCCACGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCT ACCTGGACCAGGTGGCGCTGAGCTGGCGCTACGGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGG CCTCCTTCATCAAGAACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCC GGCAGGACCGCAGCAAGGGCACCGTCCACTTCGCCGTGGTCATCACCGACGGCCACGTCACCGGCAGCCCCTGCGGGGGCATCAAGCTGC AGGCCGAGCGGGCCCGCGAGGAGGGCATCCGGCTCTTCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCA GCACGCCGCACGAGCTCTACCGCAACGACTACGCCACCATGCTGCCCGACTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCA AGGTCATGAAACACGAAGCCTACGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGAC AGAAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGGAGACCCGGGCATCGAAGGCCCCATTGGAT TCCCAGGACCCAAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGGTGAATTTGGAGCCGACGGTCGCAAGGGGGCCCCTGGCCTGGCTGGCA AGAACGGGACCGATGGACAGAAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGGCCCCGACGGTT ACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAG AAATCGGGGCCAAGGGAAGCAAGGGGTATCAAGGCAACAGTGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGC CCCGCGGACCCAAAGGCGAGCCGGGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAGCGATGGCCCCAAGGGGGAGAAGGGGG ACCCTGGCCCTGAGGGGCCCCGCGGCCTGGCTGGAGAGGTTGGCAACAAAGGAGCCAAGGGAGACCGAGGCTTGCCTGGACCCAGAGGCC CCCAGGGAGCTCTTGGGGAGCCCGGAAAGCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCC CCAAGGGAGACCCCGGCAGGCCTGGATTCAGCTACCCAGGACCCCGAGGAGCACCCGAAAAGAAACTGCTGGAAGACAGAATAGCTGAGT TCACCACCAACCTCACAGAAGAGGAGGAGAAATCTAAGAGCCTCGCCAAGCTCAAGAACAAGCATGAGGCAATGATCACTGACTTGGAAG AGCGCCTCCGCAGGGAGGAGAAGCAGCGACAGGAGCTGGAGAAGACCCGCCGGAAGCTGGAGGGAGACTCCACAGACCTCAGCGACCAGA TCGCCGAGCTCCAGGCCCAGATCGCGGAGCTCAAGATGCAGCTGGCCAAGAAAGAGGAGGAGCTCCAGGCCGCCCTGGCCAGAGTGGAAG AGGAAGCTGCCCAGAAGAACATGGCCCTCAAGAAGATCCGGGAGCTGGAATCTCAGATCTCTGAACTCCAGGAAGACCTGGAGTCTGAGC GTGCTTCCAGGAATAAAGCTGAGAAGCAGAAACGGGACCTTGGGGAAGAGCTAGAGGCTCTGAAAACAGAGTTGGAGGACACGCTGGATT CCACAGCTGCCCAGCAGGAGCTCAGGTCAAAACGTGAGCAGGAGGTGAACATCCTGAAGAAGACCCTGGAGGAGGAGGCCAAGACCCACG AGGCCCAGATCCAGGAGATGAGGCAGAAGCACTCACAGGCCGTGGAGGAGCTGGCGGAGCAGCTGGAGCAGACGAAGCGGGTGAAAGCAA ACCTCGAGAAGGCAAAGCAGACTCTGGAGAACGAGCGGGGGGAGCTGGCCAACGAGGTGAAGGTGCTGCTGCAGGGCAAAGGGGACTCGG AGCACAAGCGCAAGAAAGTGGAGGCGCAGCTGCAGGAGCTGCAGGTCAAGTTCAACGAGGGAGAGCGCGTGCGCACAGAGCTGGCCGACA AGGTCACCAAGCTGCAGGTGGAGCTGGACAACGTGACCGGGCTTCTCAGCCAGTCCGACAGCAAGTCCAGCAAGCTCACCAAGGACTTCT CCGCGCTGGAGTCCCAGCTGCAGGACACTCAGGAGCTGCTGCAGGAGGAGAACCGGCAGAAGCTGAGCCTGAGCACCAAGCTCAAGCAGG TGGAGGACGAGAAGAATTCCTTCCGGGAGCAGCTGGAGGAGGAGGAGGAGGCCAAGCACAACCTGGAGAAGCAGATCGCCACCCTCCATG CCCAGGTGGCCGACATGAAAAAGAAGATGGAGGACAGTGTGGGGTGCCTGGAAACTGCTGAGGAGGTGAAGAGGAAGCTCCAGAAGGACC TGGAGGGCCTGAGCCAGCGGCACGAGGAGAAGGTGGCCGCCTACGACAAGCTGGAGAAGACCAAGACGCGGCTGCAGCAGGAGCTGGACG ACCTGCTGGTGGACCTGGACCACCAGCGCCAGAGCGCGTGCAACCTGGAGAAGAAGCAGAAGAAGTTTGACCAGCTCCTGGCGGAGGAGA AGACCATCTCTGCCAAGTATGCAGAGGAGCGCGACCGGGCTGAGGCGGAGGCCCGAGAGAAGGAGACCAAGGCTCTGTCGCTGGCCCGGG CCCTGGAGGAAGCCATGGAGCAGAAGGCGGAGCTGGAGCGGCTCAACAAGCAGTTCCGCACGGAGATGGAGGACCTTATGAGCTCCAAGG ATGATGTGGGCAAGAGTGTCCACGAGCTGGAGAAGTCCAAGCGGGCCCTAGAGCAGCAGGTGGAGGAGATGAAGACGCAGCTGGAAGAGC TGGAGGACGAGCTGCAGGCCACCGAAGATGCCAAGCTGCGGTTGGAGGTCAACCTGCAGGCCATGAAGGCCCAGTTCGAGCGGGACCTGC AGGGCCGGGACGAGCAGAGCGAGGAGAAGAAGAAGCAGCTGGTCAGACAGGTGCGGGAGATGGAGGCAGAGCTGGAGGACGAGAGGAAGC AGCGCTCGATGGCAGTGGCCGCCCGGAAGAAGCTGGAGATGGACCTGAAGGACCTGGAGGCGCACATCGACTCGGCCAACAAGAACCGGG ACGAAGCCATCAAACAGCTGCGGAAGCTGCAGGCCCAGATGAAGGACTGCATGCGCGAGCTGGATGACACCCGCGCCTCTCGTGAGGAGA TCCTGGCCCAGGCCAAAGAGAACGAGAAGAAGCTGAAGAGCATGGAGGCCGAGATGATCCAGTTGCAGGAGGAACTGGCAGCCGCGGAGC GTGCCAAGCGCCAGGCCCAGCAGGAGCGGGATGAGCTGGCTGACGAGATCGCCAACAGCAGCGGCAAAGGAGCCCTGGCGTTAGAGGAGA AGCGGCGTCTGGAGGCCCGCATCGCCCAGCTGGAGGAGGAGCTGGAGGAGGAGCAGGGCAACACGGAGCTGATCAACGACCGGCTGAAGA AGGCCAACCTGCAGATCGACCAGATCAACACCGACCTGAACCTGGAGCGCAGCCACGCCCAGAAGAACGAGAATGCTCGGCAGCAGCTGG AACGCCAGAACAAGGAGCTTAAGGTCAAGCTGCAGGAGATGGAGGGCACTGTCAAGTCCAAGTACAAGGCCTCCATCACCGCCCTCGAGG CCAAGATTGCACAGCTGGAGGAGCAGCTGGACAACGAGACCAAGGAGCGCCAGGCAGCCTGCAAACAGGTGCGTCGGACCGAGAAGAAGC TGAAGGATGTGCTGCTGCAGGTGGATGACGAGCGGAGGAACGCCGAGCAGTACAAGGACCAGGCCGACAAGGCATCTACCCGCCTGAAGC AGCTCAAGCGGCAGCTGGAGGAGGCCGAAGAGGAGGCCCAGCGGGCCAACGCCTCCCGCCGGAAACTGCAGCGCGAGCTGGAGGACGCCA CTGAGACGGCCGATGCCATGAACCGCGAAGTCAGCTCCCTAAAGAACAAGCTCAGGCGCGGGGACCTGCCGTTTGTCGTGCCCCGCCGAA TGGCCCGGAAAGGCGCCGGGGATGGCTCCGACGAAGAGGTAGATGGCAAAGCGGATGGGGCTGAGGCCAAACCTGCCGAATAAGCCTCTT CTCCTGCAGCCTGAGATGGATGGACAGACAGACACCACAGCCTCCCCTTCCCAGACCCCGCAGCACGCCTCTCCCCACCTTCTTGGGACT GCTGTGAACATGCCTCCTCCTGCCCTCCGCCCCGTCCCCCCATCCCGTTTCCCTCCAGGTGTTGTTGAGGGCATTTGGCTTCCTCTGCTG CATCCCCTTCCAGCTCCCTCCCCTGCTCAGAATCTGATACCAAAGAGACAGGGCCCGGGCCCAGGCAGAGAGCGACCAGCAGGCTCCTCA GCCCTCTCTTGCCAAAAAGCACAAGATGTTGAGGCGAGCAGGGCAGGCCCCCGGGGAGGGGCCAGAGTTTTCTATGAATCTATTTTTCTT CAGACTGAGGCCTTTTGGTAGTCGGAGCCCCCGCAGTCGTCAGCCTCCCTGACGTCTGCCACCAGCGCCCCCACTCCTCCTCCTTTCTTT GCTGTTTGCAATCACACGTGGTGACCTCACACACCTCTGCCCCTTGGGCCTCCCACTCCCATGGCTCTGGGCGGTCCAGAAGGAGCAGGC CCTGGGCCTCCACCTCTGTGCAGGGCACAGAAGGCTGGGGTGGGGGGAGGAGTGGATTCCTCCCCACCCTGTCCCAGGCAGCGCCACTGT CCGCTGTCTCCCTCCTGATTCTAAAATGTCTCAAGTGCAATGCCCCCTCCCCTCCTTTACCGAGGACAGCCTGCCTCTGCCACAGCAAGG CTGTCGGGGTCAAGCTGGAAAGGCCAGCAGCCTTCCAGTGGCTTCTCCCAACACTCTTGGGGACCAAATATATTTAATGGTTAAGGGACT TGTCCCAAGTCTGACAGCCAGAGCGTTAGAGGGGCCAGCGGCCCTCCCAGGCGATCTTGTGTCTACTCTAGGACTGGGCCCGAGGGTGGT TTACCTGCACCGTTGACTCAGTATAGTTTAAAAATCTGCCACCTGCACAGGTATTTTTGAAAGCAAAATAAGGTTTTCTTTTTTCCCCTT TCTTGTAATAAATGATAAAATTCCGAGTCTTTCTCACTGCCTTTGTTTAGAAGAGAGTAGCTCGTCCTCACTGGTCTACACTGGTTGCCG AATTTACTTGTATTCCTAACTGTTTTGTATATGCTGCATTGAGACTTACGGCAAGAAGGCATTTTTTTTTTTTAAAGGAAACAAACTCTC AAATCATGAAGTGATATAAAAGCTGCATATGCCTACAAAGCTCTGAATTCAGGTCCCAGTTGCTGTCACAAAGGAGTGAGTGAAACTCCC ACCCTACCCCCTTTTTTATATAATAAAAGTGCCTTAGCATGTGTTGCAGCTGTCACCACTACAGTAAGCTGGTTTACAGATGTTTTCCAC >In-frame_COL6A2_ENST00000310645_chr21_47542072_+_MYH9_ENST00000216181_chr22_36695088_-_5948nt GCTTACTCGGCGCCCGCGCCTCGGGCCGTCGGGAGCGGAGCCTCCTCGGGACCAGGACTTCAGGGCCACAGGTGCTGCCAAGATGCTCCA GGGCACCTGCTCCGTGCTCCTGCTCTGGGGAATCCTGGGGGCCATCCAGGCCCAGCAGCAGGAGGTCATCTCGCCGGACACTACCGAGAG AAACAACAACTGCCCAGAGAAGACCGACTGCCCCATCCACGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCATGCAGTCCCCCAC GGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAG CTGGCGCTACGGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCA GGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGCAAGGGCAC CGTCCACTTCGCCGTGGTCATCACCGACGGCCACGTCACCGGCAGCCCCTGCGGGGGCATCAAGCTGCAGGCCGAGCGGGCCCGCGAGGA GGGCATCCGGCTCTTCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAGCTCTACCG CAACGACTACGCCACCATGCTGCCCGACTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCAAGGTCATGAAACACGAAGCCTA CGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGGTGCCAAGGGCAACAT GGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGGCGTTCC TGGCTTCAAAGGAGAGAAGGGTGAATTTGGAGCCGACGGTCGCAAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAA GGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCC AGGGGAGCGAGGAGACCAAGGCGGCAAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAGGGAAGCAA GGGGTATCAAGGCAACAGTGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCGCGGACCCAAAGGCGAGCC GGGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAGCGATGGCCCCAAGGGGGAGAAGGGGGACCCTGGCCCTGAGGGGCCCCG CGGCCTGGCTGGAGAGGTTGGCAACAAAGGAGCCAAGGGAGACCGAGGCTTGCCTGGACCCAGAGGCCCCCAGGGAGCTCTTGGGGAGCC CGGAAAGCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGGAGACCCCGGCAGGCC TGGATTCAGCTACCCAGGACCCCGAGGAGCACCCGAAAAGAAACTGCTGGAAGACAGAATAGCTGAGTTCACCACCAACCTCACAGAAGA GGAGGAGAAATCTAAGAGCCTCGCCAAGCTCAAGAACAAGCATGAGGCAATGATCACTGACTTGGAAGAGCGCCTCCGCAGGGAGGAGAA GCAGCGACAGGAGCTGGAGAAGACCCGCCGGAAGCTGGAGGGAGACTCCACAGACCTCAGCGACCAGATCGCCGAGCTCCAGGCCCAGAT CGCGGAGCTCAAGATGCAGCTGGCCAAGAAAGAGGAGGAGCTCCAGGCCGCCCTGGCCAGAGTGGAAGAGGAAGCTGCCCAGAAGAACAT GGCCCTCAAGAAGATCCGGGAGCTGGAATCTCAGATCTCTGAACTCCAGGAAGACCTGGAGTCTGAGCGTGCTTCCAGGAATAAAGCTGA GAAGCAGAAACGGGACCTTGGGGAAGAGCTAGAGGCTCTGAAAACAGAGTTGGAGGACACGCTGGATTCCACAGCTGCCCAGCAGGAGCT CAGGTCAAAACGTGAGCAGGAGGTGAACATCCTGAAGAAGACCCTGGAGGAGGAGGCCAAGACCCACGAGGCCCAGATCCAGGAGATGAG GCAGAAGCACTCACAGGCCGTGGAGGAGCTGGCGGAGCAGCTGGAGCAGACGAAGCGGGTGAAAGCAAACCTCGAGAAGGCAAAGCAGAC TCTGGAGAACGAGCGGGGGGAGCTGGCCAACGAGGTGAAGGTGCTGCTGCAGGGCAAAGGGGACTCGGAGCACAAGCGCAAGAAAGTGGA GGCGCAGCTGCAGGAGCTGCAGGTCAAGTTCAACGAGGGAGAGCGCGTGCGCACAGAGCTGGCCGACAAGGTCACCAAGCTGCAGGTGGA GCTGGACAACGTGACCGGGCTTCTCAGCCAGTCCGACAGCAAGTCCAGCAAGCTCACCAAGGACTTCTCCGCGCTGGAGTCCCAGCTGCA GGACACTCAGGAGCTGCTGCAGGAGGAGAACCGGCAGAAGCTGAGCCTGAGCACCAAGCTCAAGCAGGTGGAGGACGAGAAGAATTCCTT CCGGGAGCAGCTGGAGGAGGAGGAGGAGGCCAAGCACAACCTGGAGAAGCAGATCGCCACCCTCCATGCCCAGGTGGCCGACATGAAAAA GAAGATGGAGGACAGTGTGGGGTGCCTGGAAACTGCTGAGGAGGTGAAGAGGAAGCTCCAGAAGGACCTGGAGGGCCTGAGCCAGCGGCA CGAGGAGAAGGTGGCCGCCTACGACAAGCTGGAGAAGACCAAGACGCGGCTGCAGCAGGAGCTGGACGACCTGCTGGTGGACCTGGACCA CCAGCGCCAGAGCGCGTGCAACCTGGAGAAGAAGCAGAAGAAGTTTGACCAGCTCCTGGCGGAGGAGAAGACCATCTCTGCCAAGTATGC AGAGGAGCGCGACCGGGCTGAGGCGGAGGCCCGAGAGAAGGAGACCAAGGCTCTGTCGCTGGCCCGGGCCCTGGAGGAAGCCATGGAGCA GAAGGCGGAGCTGGAGCGGCTCAACAAGCAGTTCCGCACGGAGATGGAGGACCTTATGAGCTCCAAGGATGATGTGGGCAAGAGTGTCCA CGAGCTGGAGAAGTCCAAGCGGGCCCTAGAGCAGCAGGTGGAGGAGATGAAGACGCAGCTGGAAGAGCTGGAGGACGAGCTGCAGGCCAC CGAAGATGCCAAGCTGCGGTTGGAGGTCAACCTGCAGGCCATGAAGGCCCAGTTCGAGCGGGACCTGCAGGGCCGGGACGAGCAGAGCGA GGAGAAGAAGAAGCAGCTGGTCAGACAGGTGCGGGAGATGGAGGCAGAGCTGGAGGACGAGAGGAAGCAGCGCTCGATGGCAGTGGCCGC CCGGAAGAAGCTGGAGATGGACCTGAAGGACCTGGAGGCGCACATCGACTCGGCCAACAAGAACCGGGACGAAGCCATCAAACAGCTGCG GAAGCTGCAGGCCCAGATGAAGGACTGCATGCGCGAGCTGGATGACACCCGCGCCTCTCGTGAGGAGATCCTGGCCCAGGCCAAAGAGAA CGAGAAGAAGCTGAAGAGCATGGAGGCCGAGATGATCCAGTTGCAGGAGGAACTGGCAGCCGCGGAGCGTGCCAAGCGCCAGGCCCAGCA GGAGCGGGATGAGCTGGCTGACGAGATCGCCAACAGCAGCGGCAAAGGAGCCCTGGCGTTAGAGGAGAAGCGGCGTCTGGAGGCCCGCAT CGCCCAGCTGGAGGAGGAGCTGGAGGAGGAGCAGGGCAACACGGAGCTGATCAACGACCGGCTGAAGAAGGCCAACCTGCAGATCGACCA GATCAACACCGACCTGAACCTGGAGCGCAGCCACGCCCAGAAGAACGAGAATGCTCGGCAGCAGCTGGAACGCCAGAACAAGGAGCTTAA GGTCAAGCTGCAGGAGATGGAGGGCACTGTCAAGTCCAAGTACAAGGCCTCCATCACCGCCCTCGAGGCCAAGATTGCACAGCTGGAGGA GCAGCTGGACAACGAGACCAAGGAGCGCCAGGCAGCCTGCAAACAGGTGCGTCGGACCGAGAAGAAGCTGAAGGATGTGCTGCTGCAGGT GGATGACGAGCGGAGGAACGCCGAGCAGTACAAGGACCAGGCCGACAAGGCATCTACCCGCCTGAAGCAGCTCAAGCGGCAGCTGGAGGA GGCCGAAGAGGAGGCCCAGCGGGCCAACGCCTCCCGCCGGAAACTGCAGCGCGAGCTGGAGGACGCCACTGAGACGGCCGATGCCATGAA CCGCGAAGTCAGCTCCCTAAAGAACAAGCTCAGGCGCGGGGACCTGCCGTTTGTCGTGCCCCGCCGAATGGCCCGGAAAGGCGCCGGGGA TGGCTCCGACGAAGAGGTAGATGGCAAAGCGGATGGGGCTGAGGCCAAACCTGCCGAATAAGCCTCTTCTCCTGCAGCCTGAGATGGATG GACAGACAGACACCACAGCCTCCCCTTCCCAGACCCCGCAGCACGCCTCTCCCCACCTTCTTGGGACTGCTGTGAACATGCCTCCTCCTG CCCTCCGCCCCGTCCCCCCATCCCGTTTCCCTCCAGGTGTTGTTGAGGGCATTTGGCTTCCTCTGCTGCATCCCCTTCCAGCTCCCTCCC CTGCTCAGAATCTGATACCAAAGAGACAGGGCCCGGGCCCAGGCAGAGAGCGACCAGCAGGCTCCTCAGCCCTCTCTTGCCAAAAAGCAC AAGATGTTGAGGCGAGCAGGGCAGGCCCCCGGGGAGGGGCCAGAGTTTTCTATGAATCTATTTTTCTTCAGACTGAGGCCTTTTGGTAGT CGGAGCCCCCGCAGTCGTCAGCCTCCCTGACGTCTGCCACCAGCGCCCCCACTCCTCCTCCTTTCTTTGCTGTTTGCAATCACACGTGGT GACCTCACACACCTCTGCCCCTTGGGCCTCCCACTCCCATGGCTCTGGGCGGTCCAGAAGGAGCAGGCCCTGGGCCTCCACCTCTGTGCA GGGCACAGAAGGCTGGGGTGGGGGGAGGAGTGGATTCCTCCCCACCCTGTCCCAGGCAGCGCCACTGTCCGCTGTCTCCCTCCTGATTCT AAAATGTCTCAAGTGCAATGCCCCCTCCCCTCCTTTACCGAGGACAGCCTGCCTCTGCCACAGCAAGGCTGTCGGGGTCAAGCTGGAAAG GCCAGCAGCCTTCCAGTGGCTTCTCCCAACACTCTTGGGGACCAAATATATTTAATGGTTAAGGGACTTGTCCCAAGTCTGACAGCCAGA GCGTTAGAGGGGCCAGCGGCCCTCCCAGGCGATCTTGTGTCTACTCTAGGACTGGGCCCGAGGGTGGTTTACCTGCACCGTTGACTCAGT ATAGTTTAAAAATCTGCCACCTGCACAGGTATTTTTGAAAGCAAAATAAGGTTTTCTTTTTTCCCCTTTCTTGTAATAAATGATAAAATT CCGAGTCTTTCTCACTGCCTTTGTTTAGAAGAGAGTAGCTCGTCCTCACTGGTCTACACTGGTTGCCGAATTTACTTGTATTCCTAACTG TTTTGTATATGCTGCATTGAGACTTACGGCAAGAAGGCATTTTTTTTTTTTAAAGGAAACAAACTCTCAAATCATGAAGTGATATAAAAG CTGCATATGCCTACAAAGCTCTGAATTCAGGTCCCAGTTGCTGTCACAAAGGAGTGAGTGAAACTCCCACCCTACCCCCTTTTTTATATA ATAAAAGTGCCTTAGCATGTGTTGCAGCTGTCACCACTACAGTAAGCTGGTTTACAGATGTTTTCCACTGAGCATCACAATAAAGAGAAC >In-frame_COL6A2_ENST00000357838_chr21_47542072_+_MYH9_ENST00000216181_chr22_36695088_-_5948nt GCTTACTCGGCGCCCGCGCCTCGGGCCGTCGGGAGCGGAGCCTCCTCGGGACCAGGACTTCAGGGCCACAGGTGCTGCCAAGATGCTCCA GGGCACCTGCTCCGTGCTCCTGCTCTGGGGAATCCTGGGGGCCATCCAGGCCCAGCAGCAGGAGGTCATCTCGCCGGACACTACCGAGAG AAACAACAACTGCCCAGAGAAGACCGACTGCCCCATCCACGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCATGCAGTCCCCCAC GGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAG CTGGCGCTACGGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCA GGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGCAAGGGCAC CGTCCACTTCGCCGTGGTCATCACCGACGGCCACGTCACCGGCAGCCCCTGCGGGGGCATCAAGCTGCAGGCCGAGCGGGCCCGCGAGGA GGGCATCCGGCTCTTCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAGCTCTACCG CAACGACTACGCCACCATGCTGCCCGACTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCAAGGTCATGAAACACGAAGCCTA CGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGGTGCCAAGGGCAACAT GGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGGCGTTCC TGGCTTCAAAGGAGAGAAGGGTGAATTTGGAGCCGACGGTCGCAAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAA GGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCC AGGGGAGCGAGGAGACCAAGGCGGCAAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAGGGAAGCAA GGGGTATCAAGGCAACAGTGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCGCGGACCCAAAGGCGAGCC GGGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAGCGATGGCCCCAAGGGGGAGAAGGGGGACCCTGGCCCTGAGGGGCCCCG CGGCCTGGCTGGAGAGGTTGGCAACAAAGGAGCCAAGGGAGACCGAGGCTTGCCTGGACCCAGAGGCCCCCAGGGAGCTCTTGGGGAGCC CGGAAAGCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGGAGACCCCGGCAGGCC TGGATTCAGCTACCCAGGACCCCGAGGAGCACCCGAAAAGAAACTGCTGGAAGACAGAATAGCTGAGTTCACCACCAACCTCACAGAAGA GGAGGAGAAATCTAAGAGCCTCGCCAAGCTCAAGAACAAGCATGAGGCAATGATCACTGACTTGGAAGAGCGCCTCCGCAGGGAGGAGAA GCAGCGACAGGAGCTGGAGAAGACCCGCCGGAAGCTGGAGGGAGACTCCACAGACCTCAGCGACCAGATCGCCGAGCTCCAGGCCCAGAT CGCGGAGCTCAAGATGCAGCTGGCCAAGAAAGAGGAGGAGCTCCAGGCCGCCCTGGCCAGAGTGGAAGAGGAAGCTGCCCAGAAGAACAT GGCCCTCAAGAAGATCCGGGAGCTGGAATCTCAGATCTCTGAACTCCAGGAAGACCTGGAGTCTGAGCGTGCTTCCAGGAATAAAGCTGA GAAGCAGAAACGGGACCTTGGGGAAGAGCTAGAGGCTCTGAAAACAGAGTTGGAGGACACGCTGGATTCCACAGCTGCCCAGCAGGAGCT CAGGTCAAAACGTGAGCAGGAGGTGAACATCCTGAAGAAGACCCTGGAGGAGGAGGCCAAGACCCACGAGGCCCAGATCCAGGAGATGAG GCAGAAGCACTCACAGGCCGTGGAGGAGCTGGCGGAGCAGCTGGAGCAGACGAAGCGGGTGAAAGCAAACCTCGAGAAGGCAAAGCAGAC TCTGGAGAACGAGCGGGGGGAGCTGGCCAACGAGGTGAAGGTGCTGCTGCAGGGCAAAGGGGACTCGGAGCACAAGCGCAAGAAAGTGGA GGCGCAGCTGCAGGAGCTGCAGGTCAAGTTCAACGAGGGAGAGCGCGTGCGCACAGAGCTGGCCGACAAGGTCACCAAGCTGCAGGTGGA GCTGGACAACGTGACCGGGCTTCTCAGCCAGTCCGACAGCAAGTCCAGCAAGCTCACCAAGGACTTCTCCGCGCTGGAGTCCCAGCTGCA GGACACTCAGGAGCTGCTGCAGGAGGAGAACCGGCAGAAGCTGAGCCTGAGCACCAAGCTCAAGCAGGTGGAGGACGAGAAGAATTCCTT CCGGGAGCAGCTGGAGGAGGAGGAGGAGGCCAAGCACAACCTGGAGAAGCAGATCGCCACCCTCCATGCCCAGGTGGCCGACATGAAAAA GAAGATGGAGGACAGTGTGGGGTGCCTGGAAACTGCTGAGGAGGTGAAGAGGAAGCTCCAGAAGGACCTGGAGGGCCTGAGCCAGCGGCA CGAGGAGAAGGTGGCCGCCTACGACAAGCTGGAGAAGACCAAGACGCGGCTGCAGCAGGAGCTGGACGACCTGCTGGTGGACCTGGACCA CCAGCGCCAGAGCGCGTGCAACCTGGAGAAGAAGCAGAAGAAGTTTGACCAGCTCCTGGCGGAGGAGAAGACCATCTCTGCCAAGTATGC AGAGGAGCGCGACCGGGCTGAGGCGGAGGCCCGAGAGAAGGAGACCAAGGCTCTGTCGCTGGCCCGGGCCCTGGAGGAAGCCATGGAGCA GAAGGCGGAGCTGGAGCGGCTCAACAAGCAGTTCCGCACGGAGATGGAGGACCTTATGAGCTCCAAGGATGATGTGGGCAAGAGTGTCCA CGAGCTGGAGAAGTCCAAGCGGGCCCTAGAGCAGCAGGTGGAGGAGATGAAGACGCAGCTGGAAGAGCTGGAGGACGAGCTGCAGGCCAC CGAAGATGCCAAGCTGCGGTTGGAGGTCAACCTGCAGGCCATGAAGGCCCAGTTCGAGCGGGACCTGCAGGGCCGGGACGAGCAGAGCGA GGAGAAGAAGAAGCAGCTGGTCAGACAGGTGCGGGAGATGGAGGCAGAGCTGGAGGACGAGAGGAAGCAGCGCTCGATGGCAGTGGCCGC CCGGAAGAAGCTGGAGATGGACCTGAAGGACCTGGAGGCGCACATCGACTCGGCCAACAAGAACCGGGACGAAGCCATCAAACAGCTGCG GAAGCTGCAGGCCCAGATGAAGGACTGCATGCGCGAGCTGGATGACACCCGCGCCTCTCGTGAGGAGATCCTGGCCCAGGCCAAAGAGAA CGAGAAGAAGCTGAAGAGCATGGAGGCCGAGATGATCCAGTTGCAGGAGGAACTGGCAGCCGCGGAGCGTGCCAAGCGCCAGGCCCAGCA GGAGCGGGATGAGCTGGCTGACGAGATCGCCAACAGCAGCGGCAAAGGAGCCCTGGCGTTAGAGGAGAAGCGGCGTCTGGAGGCCCGCAT CGCCCAGCTGGAGGAGGAGCTGGAGGAGGAGCAGGGCAACACGGAGCTGATCAACGACCGGCTGAAGAAGGCCAACCTGCAGATCGACCA GATCAACACCGACCTGAACCTGGAGCGCAGCCACGCCCAGAAGAACGAGAATGCTCGGCAGCAGCTGGAACGCCAGAACAAGGAGCTTAA GGTCAAGCTGCAGGAGATGGAGGGCACTGTCAAGTCCAAGTACAAGGCCTCCATCACCGCCCTCGAGGCCAAGATTGCACAGCTGGAGGA GCAGCTGGACAACGAGACCAAGGAGCGCCAGGCAGCCTGCAAACAGGTGCGTCGGACCGAGAAGAAGCTGAAGGATGTGCTGCTGCAGGT GGATGACGAGCGGAGGAACGCCGAGCAGTACAAGGACCAGGCCGACAAGGCATCTACCCGCCTGAAGCAGCTCAAGCGGCAGCTGGAGGA GGCCGAAGAGGAGGCCCAGCGGGCCAACGCCTCCCGCCGGAAACTGCAGCGCGAGCTGGAGGACGCCACTGAGACGGCCGATGCCATGAA CCGCGAAGTCAGCTCCCTAAAGAACAAGCTCAGGCGCGGGGACCTGCCGTTTGTCGTGCCCCGCCGAATGGCCCGGAAAGGCGCCGGGGA TGGCTCCGACGAAGAGGTAGATGGCAAAGCGGATGGGGCTGAGGCCAAACCTGCCGAATAAGCCTCTTCTCCTGCAGCCTGAGATGGATG GACAGACAGACACCACAGCCTCCCCTTCCCAGACCCCGCAGCACGCCTCTCCCCACCTTCTTGGGACTGCTGTGAACATGCCTCCTCCTG CCCTCCGCCCCGTCCCCCCATCCCGTTTCCCTCCAGGTGTTGTTGAGGGCATTTGGCTTCCTCTGCTGCATCCCCTTCCAGCTCCCTCCC CTGCTCAGAATCTGATACCAAAGAGACAGGGCCCGGGCCCAGGCAGAGAGCGACCAGCAGGCTCCTCAGCCCTCTCTTGCCAAAAAGCAC AAGATGTTGAGGCGAGCAGGGCAGGCCCCCGGGGAGGGGCCAGAGTTTTCTATGAATCTATTTTTCTTCAGACTGAGGCCTTTTGGTAGT CGGAGCCCCCGCAGTCGTCAGCCTCCCTGACGTCTGCCACCAGCGCCCCCACTCCTCCTCCTTTCTTTGCTGTTTGCAATCACACGTGGT GACCTCACACACCTCTGCCCCTTGGGCCTCCCACTCCCATGGCTCTGGGCGGTCCAGAAGGAGCAGGCCCTGGGCCTCCACCTCTGTGCA GGGCACAGAAGGCTGGGGTGGGGGGAGGAGTGGATTCCTCCCCACCCTGTCCCAGGCAGCGCCACTGTCCGCTGTCTCCCTCCTGATTCT AAAATGTCTCAAGTGCAATGCCCCCTCCCCTCCTTTACCGAGGACAGCCTGCCTCTGCCACAGCAAGGCTGTCGGGGTCAAGCTGGAAAG GCCAGCAGCCTTCCAGTGGCTTCTCCCAACACTCTTGGGGACCAAATATATTTAATGGTTAAGGGACTTGTCCCAAGTCTGACAGCCAGA GCGTTAGAGGGGCCAGCGGCCCTCCCAGGCGATCTTGTGTCTACTCTAGGACTGGGCCCGAGGGTGGTTTACCTGCACCGTTGACTCAGT ATAGTTTAAAAATCTGCCACCTGCACAGGTATTTTTGAAAGCAAAATAAGGTTTTCTTTTTTCCCCTTTCTTGTAATAAATGATAAAATT CCGAGTCTTTCTCACTGCCTTTGTTTAGAAGAGAGTAGCTCGTCCTCACTGGTCTACACTGGTTGCCGAATTTACTTGTATTCCTAACTG TTTTGTATATGCTGCATTGAGACTTACGGCAAGAAGGCATTTTTTTTTTTTAAAGGAAACAAACTCTCAAATCATGAAGTGATATAAAAG CTGCATATGCCTACAAAGCTCTGAATTCAGGTCCCAGTTGCTGTCACAAAGGAGTGAGTGAAACTCCCACCCTACCCCCTTTTTTATATA ATAAAAGTGCCTTAGCATGTGTTGCAGCTGTCACCACTACAGTAAGCTGGTTTACAGATGTTTTCCACTGAGCATCACAATAAAGAGAAC >In-frame_COL6A2_ENST00000409416_chr21_47542072_+_MYH9_ENST00000216181_chr22_36695088_-_5929nt CTGGGGGTGTCTGAGCGACCCCCACCCCTGTTGCAGGACTTCAGGGCCACAGGTGCTGCCAAGATGCTCCAGGGCACCTGCTCCGTGCTC CTGCTCTGGGGAATCCTGGGGGCCATCCAGGCCCAGCAGCAGGAGGTCATCTCGCCGGACACTACCGAGAGAAACAACAACTGCCCAGAG AAGACCGACTGCCCCATCCACGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCATGCAGTCCCCCACGGACATCCTGCTCTTCCAC ATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAGCTGGCGCTACGGCGGCCTG CACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCAGGGCATCAGCTCCTTCCGC CGCGGCACCTTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGCAAGGGCACCGTCCACTTCGCCGTGGTC ATCACCGACGGCCACGTCACCGGCAGCCCCTGCGGGGGCATCAAGCTGCAGGCCGAGCGGGCCCGCGAGGAGGGCATCCGGCTCTTCGCC GTGGCCCCCAACCAGAACCTGAAGGAGCAGGGCCTGCGGGACATCGCCAGCACGCCGCACGAGCTCTACCGCAACGACTACGCCACCATG CTGCCCGACTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCAAGGTCATGAAACACGAAGCCTACGGAGAGTGCTACAAGGTG AGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCT GGCCAGAAGGGAAGACAGGGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAGGGCGTTCCTGGCTTCAAAGGAGAGAAG GGTGAATTTGGAGCCGACGGTCGCAAGGGGGCCCCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGGCAAGCTGGGGCGCATC GGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGGGGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAA GGCGGCAAGGGGGACCCTGGCCGCCCAGGACGCAGAGGGCCCCCGGGAGAAATCGGGGCCAAGGGAAGCAAGGGGTATCAAGGCAACAGT GGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCGCGGACCCAAAGGCGAGCCGGGGCGCAGGGGAGACCCC GGCACCAAGGGCAGCCCAGGCAGCGATGGCCCCAAGGGGGAGAAGGGGGACCCTGGCCCTGAGGGGCCCCGCGGCCTGGCTGGAGAGGTT GGCAACAAAGGAGCCAAGGGAGACCGAGGCTTGCCTGGACCCAGAGGCCCCCAGGGAGCTCTTGGGGAGCCCGGAAAGCAGGGATCTCGG GGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGGAGACCCCGGCAGGCCTGGATTCAGCTACCCAGGA CCCCGAGGAGCACCCGAAAAGAAACTGCTGGAAGACAGAATAGCTGAGTTCACCACCAACCTCACAGAAGAGGAGGAGAAATCTAAGAGC CTCGCCAAGCTCAAGAACAAGCATGAGGCAATGATCACTGACTTGGAAGAGCGCCTCCGCAGGGAGGAGAAGCAGCGACAGGAGCTGGAG AAGACCCGCCGGAAGCTGGAGGGAGACTCCACAGACCTCAGCGACCAGATCGCCGAGCTCCAGGCCCAGATCGCGGAGCTCAAGATGCAG CTGGCCAAGAAAGAGGAGGAGCTCCAGGCCGCCCTGGCCAGAGTGGAAGAGGAAGCTGCCCAGAAGAACATGGCCCTCAAGAAGATCCGG GAGCTGGAATCTCAGATCTCTGAACTCCAGGAAGACCTGGAGTCTGAGCGTGCTTCCAGGAATAAAGCTGAGAAGCAGAAACGGGACCTT GGGGAAGAGCTAGAGGCTCTGAAAACAGAGTTGGAGGACACGCTGGATTCCACAGCTGCCCAGCAGGAGCTCAGGTCAAAACGTGAGCAG GAGGTGAACATCCTGAAGAAGACCCTGGAGGAGGAGGCCAAGACCCACGAGGCCCAGATCCAGGAGATGAGGCAGAAGCACTCACAGGCC GTGGAGGAGCTGGCGGAGCAGCTGGAGCAGACGAAGCGGGTGAAAGCAAACCTCGAGAAGGCAAAGCAGACTCTGGAGAACGAGCGGGGG GAGCTGGCCAACGAGGTGAAGGTGCTGCTGCAGGGCAAAGGGGACTCGGAGCACAAGCGCAAGAAAGTGGAGGCGCAGCTGCAGGAGCTG CAGGTCAAGTTCAACGAGGGAGAGCGCGTGCGCACAGAGCTGGCCGACAAGGTCACCAAGCTGCAGGTGGAGCTGGACAACGTGACCGGG CTTCTCAGCCAGTCCGACAGCAAGTCCAGCAAGCTCACCAAGGACTTCTCCGCGCTGGAGTCCCAGCTGCAGGACACTCAGGAGCTGCTG CAGGAGGAGAACCGGCAGAAGCTGAGCCTGAGCACCAAGCTCAAGCAGGTGGAGGACGAGAAGAATTCCTTCCGGGAGCAGCTGGAGGAG GAGGAGGAGGCCAAGCACAACCTGGAGAAGCAGATCGCCACCCTCCATGCCCAGGTGGCCGACATGAAAAAGAAGATGGAGGACAGTGTG GGGTGCCTGGAAACTGCTGAGGAGGTGAAGAGGAAGCTCCAGAAGGACCTGGAGGGCCTGAGCCAGCGGCACGAGGAGAAGGTGGCCGCC TACGACAAGCTGGAGAAGACCAAGACGCGGCTGCAGCAGGAGCTGGACGACCTGCTGGTGGACCTGGACCACCAGCGCCAGAGCGCGTGC AACCTGGAGAAGAAGCAGAAGAAGTTTGACCAGCTCCTGGCGGAGGAGAAGACCATCTCTGCCAAGTATGCAGAGGAGCGCGACCGGGCT GAGGCGGAGGCCCGAGAGAAGGAGACCAAGGCTCTGTCGCTGGCCCGGGCCCTGGAGGAAGCCATGGAGCAGAAGGCGGAGCTGGAGCGG CTCAACAAGCAGTTCCGCACGGAGATGGAGGACCTTATGAGCTCCAAGGATGATGTGGGCAAGAGTGTCCACGAGCTGGAGAAGTCCAAG CGGGCCCTAGAGCAGCAGGTGGAGGAGATGAAGACGCAGCTGGAAGAGCTGGAGGACGAGCTGCAGGCCACCGAAGATGCCAAGCTGCGG TTGGAGGTCAACCTGCAGGCCATGAAGGCCCAGTTCGAGCGGGACCTGCAGGGCCGGGACGAGCAGAGCGAGGAGAAGAAGAAGCAGCTG GTCAGACAGGTGCGGGAGATGGAGGCAGAGCTGGAGGACGAGAGGAAGCAGCGCTCGATGGCAGTGGCCGCCCGGAAGAAGCTGGAGATG GACCTGAAGGACCTGGAGGCGCACATCGACTCGGCCAACAAGAACCGGGACGAAGCCATCAAACAGCTGCGGAAGCTGCAGGCCCAGATG AAGGACTGCATGCGCGAGCTGGATGACACCCGCGCCTCTCGTGAGGAGATCCTGGCCCAGGCCAAAGAGAACGAGAAGAAGCTGAAGAGC ATGGAGGCCGAGATGATCCAGTTGCAGGAGGAACTGGCAGCCGCGGAGCGTGCCAAGCGCCAGGCCCAGCAGGAGCGGGATGAGCTGGCT GACGAGATCGCCAACAGCAGCGGCAAAGGAGCCCTGGCGTTAGAGGAGAAGCGGCGTCTGGAGGCCCGCATCGCCCAGCTGGAGGAGGAG CTGGAGGAGGAGCAGGGCAACACGGAGCTGATCAACGACCGGCTGAAGAAGGCCAACCTGCAGATCGACCAGATCAACACCGACCTGAAC CTGGAGCGCAGCCACGCCCAGAAGAACGAGAATGCTCGGCAGCAGCTGGAACGCCAGAACAAGGAGCTTAAGGTCAAGCTGCAGGAGATG GAGGGCACTGTCAAGTCCAAGTACAAGGCCTCCATCACCGCCCTCGAGGCCAAGATTGCACAGCTGGAGGAGCAGCTGGACAACGAGACC AAGGAGCGCCAGGCAGCCTGCAAACAGGTGCGTCGGACCGAGAAGAAGCTGAAGGATGTGCTGCTGCAGGTGGATGACGAGCGGAGGAAC GCCGAGCAGTACAAGGACCAGGCCGACAAGGCATCTACCCGCCTGAAGCAGCTCAAGCGGCAGCTGGAGGAGGCCGAAGAGGAGGCCCAG CGGGCCAACGCCTCCCGCCGGAAACTGCAGCGCGAGCTGGAGGACGCCACTGAGACGGCCGATGCCATGAACCGCGAAGTCAGCTCCCTA AAGAACAAGCTCAGGCGCGGGGACCTGCCGTTTGTCGTGCCCCGCCGAATGGCCCGGAAAGGCGCCGGGGATGGCTCCGACGAAGAGGTA GATGGCAAAGCGGATGGGGCTGAGGCCAAACCTGCCGAATAAGCCTCTTCTCCTGCAGCCTGAGATGGATGGACAGACAGACACCACAGC CTCCCCTTCCCAGACCCCGCAGCACGCCTCTCCCCACCTTCTTGGGACTGCTGTGAACATGCCTCCTCCTGCCCTCCGCCCCGTCCCCCC ATCCCGTTTCCCTCCAGGTGTTGTTGAGGGCATTTGGCTTCCTCTGCTGCATCCCCTTCCAGCTCCCTCCCCTGCTCAGAATCTGATACC AAAGAGACAGGGCCCGGGCCCAGGCAGAGAGCGACCAGCAGGCTCCTCAGCCCTCTCTTGCCAAAAAGCACAAGATGTTGAGGCGAGCAG GGCAGGCCCCCGGGGAGGGGCCAGAGTTTTCTATGAATCTATTTTTCTTCAGACTGAGGCCTTTTGGTAGTCGGAGCCCCCGCAGTCGTC AGCCTCCCTGACGTCTGCCACCAGCGCCCCCACTCCTCCTCCTTTCTTTGCTGTTTGCAATCACACGTGGTGACCTCACACACCTCTGCC CCTTGGGCCTCCCACTCCCATGGCTCTGGGCGGTCCAGAAGGAGCAGGCCCTGGGCCTCCACCTCTGTGCAGGGCACAGAAGGCTGGGGT GGGGGGAGGAGTGGATTCCTCCCCACCCTGTCCCAGGCAGCGCCACTGTCCGCTGTCTCCCTCCTGATTCTAAAATGTCTCAAGTGCAAT GCCCCCTCCCCTCCTTTACCGAGGACAGCCTGCCTCTGCCACAGCAAGGCTGTCGGGGTCAAGCTGGAAAGGCCAGCAGCCTTCCAGTGG CTTCTCCCAACACTCTTGGGGACCAAATATATTTAATGGTTAAGGGACTTGTCCCAAGTCTGACAGCCAGAGCGTTAGAGGGGCCAGCGG CCCTCCCAGGCGATCTTGTGTCTACTCTAGGACTGGGCCCGAGGGTGGTTTACCTGCACCGTTGACTCAGTATAGTTTAAAAATCTGCCA CCTGCACAGGTATTTTTGAAAGCAAAATAAGGTTTTCTTTTTTCCCCTTTCTTGTAATAAATGATAAAATTCCGAGTCTTTCTCACTGCC TTTGTTTAGAAGAGAGTAGCTCGTCCTCACTGGTCTACACTGGTTGCCGAATTTACTTGTATTCCTAACTGTTTTGTATATGCTGCATTG AGACTTACGGCAAGAAGGCATTTTTTTTTTTTAAAGGAAACAAACTCTCAAATCATGAAGTGATATAAAAGCTGCATATGCCTACAAAGC TCTGAATTCAGGTCCCAGTTGCTGTCACAAAGGAGTGAGTGAAACTCCCACCCTACCCCCTTTTTTATATAATAAAAGTGCCTTAGCATG >In-frame_COL6A2_ENST00000397763_chr21_47542072_+_MYH9_ENST00000216181_chr22_36695088_-_5893nt GACTTCAGGGCCACAGGTGCTGCCAAGATGCTCCAGGGCACCTGCTCCGTGCTCCTGCTCTGGGGAATCCTGGGGGCCATCCAGGCCCAG CAGCAGGAGGTCATCTCGCCGGACACTACCGAGAGAAACAACAACTGCCCAGAGAAGACCGACTGCCCCATCCACGTGTACTTCGTGCTG GACACCTCGGAGAGCGTCACCATGCAGTCCCCCACGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTG CAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAGCTGGCGCTACGGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCG GGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAACATG ACGGAGCAGATCCGGCAGGACCGCAGCAAGGGCACCGTCCACTTCGCCGTGGTCATCACCGACGGCCACGTCACCGGCAGCCCCTGCGGG GGCATCAAGCTGCAGGCCGAGCGGGCCCGCGAGGAGGGCATCCGGCTCTTCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCAGGGCCTG CGGGACATCGCCAGCACGCCGCACGAGCTCTACCGCAACGACTACGCCACCATGCTGCCCGACTCCACCGAGATCGACCAGGACACCATC AACCGCATCATCAAGGTCATGAAACACGAAGCCTACGGAGAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAG GGCTACCGTGGACAGAAGGGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGCCAGAAGGGAAGACAGGGAGACCCGGGCATCGAA GGCCCCATTGGATTCCCAGGACCCAAGGGCGTTCCTGGCTTCAAAGGAGAGAAGGGTGAATTTGGAGCCGACGGTCGCAAGGGGGCCCCT GGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCTGCAAGGGAGACCCTGGAAACCGG GGCCCCGACGGTTACCCGGGGGAAGCAGGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAGGGGGACCCTGGCCGCCCAGGACGCAGA GGGCCCCCGGGAGAAATCGGGGCCAAGGGAAGCAAGGGGTATCAAGGCAACAGTGGAGCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAG GGCGGGCCTGGGCCCCGCGGACCCAAAGGCGAGCCGGGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAGCGATGGCCCCAAG GGGGAGAAGGGGGACCCTGGCCCTGAGGGGCCCCGCGGCCTGGCTGGAGAGGTTGGCAACAAAGGAGCCAAGGGAGACCGAGGCTTGCCT GGACCCAGAGGCCCCCAGGGAGCTCTTGGGGAGCCCGGAAAGCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCA GGACAGCCAGGCCCCAAGGGAGACCCCGGCAGGCCTGGATTCAGCTACCCAGGACCCCGAGGAGCACCCGAAAAGAAACTGCTGGAAGAC AGAATAGCTGAGTTCACCACCAACCTCACAGAAGAGGAGGAGAAATCTAAGAGCCTCGCCAAGCTCAAGAACAAGCATGAGGCAATGATC ACTGACTTGGAAGAGCGCCTCCGCAGGGAGGAGAAGCAGCGACAGGAGCTGGAGAAGACCCGCCGGAAGCTGGAGGGAGACTCCACAGAC CTCAGCGACCAGATCGCCGAGCTCCAGGCCCAGATCGCGGAGCTCAAGATGCAGCTGGCCAAGAAAGAGGAGGAGCTCCAGGCCGCCCTG GCCAGAGTGGAAGAGGAAGCTGCCCAGAAGAACATGGCCCTCAAGAAGATCCGGGAGCTGGAATCTCAGATCTCTGAACTCCAGGAAGAC CTGGAGTCTGAGCGTGCTTCCAGGAATAAAGCTGAGAAGCAGAAACGGGACCTTGGGGAAGAGCTAGAGGCTCTGAAAACAGAGTTGGAG GACACGCTGGATTCCACAGCTGCCCAGCAGGAGCTCAGGTCAAAACGTGAGCAGGAGGTGAACATCCTGAAGAAGACCCTGGAGGAGGAG GCCAAGACCCACGAGGCCCAGATCCAGGAGATGAGGCAGAAGCACTCACAGGCCGTGGAGGAGCTGGCGGAGCAGCTGGAGCAGACGAAG CGGGTGAAAGCAAACCTCGAGAAGGCAAAGCAGACTCTGGAGAACGAGCGGGGGGAGCTGGCCAACGAGGTGAAGGTGCTGCTGCAGGGC AAAGGGGACTCGGAGCACAAGCGCAAGAAAGTGGAGGCGCAGCTGCAGGAGCTGCAGGTCAAGTTCAACGAGGGAGAGCGCGTGCGCACA GAGCTGGCCGACAAGGTCACCAAGCTGCAGGTGGAGCTGGACAACGTGACCGGGCTTCTCAGCCAGTCCGACAGCAAGTCCAGCAAGCTC ACCAAGGACTTCTCCGCGCTGGAGTCCCAGCTGCAGGACACTCAGGAGCTGCTGCAGGAGGAGAACCGGCAGAAGCTGAGCCTGAGCACC AAGCTCAAGCAGGTGGAGGACGAGAAGAATTCCTTCCGGGAGCAGCTGGAGGAGGAGGAGGAGGCCAAGCACAACCTGGAGAAGCAGATC GCCACCCTCCATGCCCAGGTGGCCGACATGAAAAAGAAGATGGAGGACAGTGTGGGGTGCCTGGAAACTGCTGAGGAGGTGAAGAGGAAG CTCCAGAAGGACCTGGAGGGCCTGAGCCAGCGGCACGAGGAGAAGGTGGCCGCCTACGACAAGCTGGAGAAGACCAAGACGCGGCTGCAG CAGGAGCTGGACGACCTGCTGGTGGACCTGGACCACCAGCGCCAGAGCGCGTGCAACCTGGAGAAGAAGCAGAAGAAGTTTGACCAGCTC CTGGCGGAGGAGAAGACCATCTCTGCCAAGTATGCAGAGGAGCGCGACCGGGCTGAGGCGGAGGCCCGAGAGAAGGAGACCAAGGCTCTG TCGCTGGCCCGGGCCCTGGAGGAAGCCATGGAGCAGAAGGCGGAGCTGGAGCGGCTCAACAAGCAGTTCCGCACGGAGATGGAGGACCTT ATGAGCTCCAAGGATGATGTGGGCAAGAGTGTCCACGAGCTGGAGAAGTCCAAGCGGGCCCTAGAGCAGCAGGTGGAGGAGATGAAGACG CAGCTGGAAGAGCTGGAGGACGAGCTGCAGGCCACCGAAGATGCCAAGCTGCGGTTGGAGGTCAACCTGCAGGCCATGAAGGCCCAGTTC GAGCGGGACCTGCAGGGCCGGGACGAGCAGAGCGAGGAGAAGAAGAAGCAGCTGGTCAGACAGGTGCGGGAGATGGAGGCAGAGCTGGAG GACGAGAGGAAGCAGCGCTCGATGGCAGTGGCCGCCCGGAAGAAGCTGGAGATGGACCTGAAGGACCTGGAGGCGCACATCGACTCGGCC AACAAGAACCGGGACGAAGCCATCAAACAGCTGCGGAAGCTGCAGGCCCAGATGAAGGACTGCATGCGCGAGCTGGATGACACCCGCGCC TCTCGTGAGGAGATCCTGGCCCAGGCCAAAGAGAACGAGAAGAAGCTGAAGAGCATGGAGGCCGAGATGATCCAGTTGCAGGAGGAACTG GCAGCCGCGGAGCGTGCCAAGCGCCAGGCCCAGCAGGAGCGGGATGAGCTGGCTGACGAGATCGCCAACAGCAGCGGCAAAGGAGCCCTG GCGTTAGAGGAGAAGCGGCGTCTGGAGGCCCGCATCGCCCAGCTGGAGGAGGAGCTGGAGGAGGAGCAGGGCAACACGGAGCTGATCAAC GACCGGCTGAAGAAGGCCAACCTGCAGATCGACCAGATCAACACCGACCTGAACCTGGAGCGCAGCCACGCCCAGAAGAACGAGAATGCT CGGCAGCAGCTGGAACGCCAGAACAAGGAGCTTAAGGTCAAGCTGCAGGAGATGGAGGGCACTGTCAAGTCCAAGTACAAGGCCTCCATC ACCGCCCTCGAGGCCAAGATTGCACAGCTGGAGGAGCAGCTGGACAACGAGACCAAGGAGCGCCAGGCAGCCTGCAAACAGGTGCGTCGG ACCGAGAAGAAGCTGAAGGATGTGCTGCTGCAGGTGGATGACGAGCGGAGGAACGCCGAGCAGTACAAGGACCAGGCCGACAAGGCATCT ACCCGCCTGAAGCAGCTCAAGCGGCAGCTGGAGGAGGCCGAAGAGGAGGCCCAGCGGGCCAACGCCTCCCGCCGGAAACTGCAGCGCGAG CTGGAGGACGCCACTGAGACGGCCGATGCCATGAACCGCGAAGTCAGCTCCCTAAAGAACAAGCTCAGGCGCGGGGACCTGCCGTTTGTC GTGCCCCGCCGAATGGCCCGGAAAGGCGCCGGGGATGGCTCCGACGAAGAGGTAGATGGCAAAGCGGATGGGGCTGAGGCCAAACCTGCC GAATAAGCCTCTTCTCCTGCAGCCTGAGATGGATGGACAGACAGACACCACAGCCTCCCCTTCCCAGACCCCGCAGCACGCCTCTCCCCA CCTTCTTGGGACTGCTGTGAACATGCCTCCTCCTGCCCTCCGCCCCGTCCCCCCATCCCGTTTCCCTCCAGGTGTTGTTGAGGGCATTTG GCTTCCTCTGCTGCATCCCCTTCCAGCTCCCTCCCCTGCTCAGAATCTGATACCAAAGAGACAGGGCCCGGGCCCAGGCAGAGAGCGACC AGCAGGCTCCTCAGCCCTCTCTTGCCAAAAAGCACAAGATGTTGAGGCGAGCAGGGCAGGCCCCCGGGGAGGGGCCAGAGTTTTCTATGA ATCTATTTTTCTTCAGACTGAGGCCTTTTGGTAGTCGGAGCCCCCGCAGTCGTCAGCCTCCCTGACGTCTGCCACCAGCGCCCCCACTCC TCCTCCTTTCTTTGCTGTTTGCAATCACACGTGGTGACCTCACACACCTCTGCCCCTTGGGCCTCCCACTCCCATGGCTCTGGGCGGTCC AGAAGGAGCAGGCCCTGGGCCTCCACCTCTGTGCAGGGCACAGAAGGCTGGGGTGGGGGGAGGAGTGGATTCCTCCCCACCCTGTCCCAG GCAGCGCCACTGTCCGCTGTCTCCCTCCTGATTCTAAAATGTCTCAAGTGCAATGCCCCCTCCCCTCCTTTACCGAGGACAGCCTGCCTC TGCCACAGCAAGGCTGTCGGGGTCAAGCTGGAAAGGCCAGCAGCCTTCCAGTGGCTTCTCCCAACACTCTTGGGGACCAAATATATTTAA TGGTTAAGGGACTTGTCCCAAGTCTGACAGCCAGAGCGTTAGAGGGGCCAGCGGCCCTCCCAGGCGATCTTGTGTCTACTCTAGGACTGG GCCCGAGGGTGGTTTACCTGCACCGTTGACTCAGTATAGTTTAAAAATCTGCCACCTGCACAGGTATTTTTGAAAGCAAAATAAGGTTTT CTTTTTTCCCCTTTCTTGTAATAAATGATAAAATTCCGAGTCTTTCTCACTGCCTTTGTTTAGAAGAGAGTAGCTCGTCCTCACTGGTCT ACACTGGTTGCCGAATTTACTTGTATTCCTAACTGTTTTGTATATGCTGCATTGAGACTTACGGCAAGAAGGCATTTTTTTTTTTTAAAG GAAACAAACTCTCAAATCATGAAGTGATATAAAAGCTGCATATGCCTACAAAGCTCTGAATTCAGGTCCCAGTTGCTGTCACAAAGGAGT GAGTGAAACTCCCACCCTACCCCCTTTTTTATATAATAAAAGTGCCTTAGCATGTGTTGCAGCTGTCACCACTACAGTAAGCTGGTTTAC |
Top |
FusionGenePPI for COL6A2_MYH9 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| COL6A2 | COX6A2, SLC38A3, C1QTNF2, TAZ, CA10, COL9A1, C1QTNF9, WNT10B, PTPRK, VEGFB, OBP2A, PRG2, MMP9, LYZL2, FAM19A3, INSL5, FAM19A4, PLOD1, MMP2, DEFB121, SCGB1D4, COLGALT2, DKKL1, PLA2G10, LYZL1, LYPD1, XCL1 | MYH9 | EPB41, MARK4, ASCC2, MYL9, PRKCE, USP1, USP45, GRB2, RAC1, YWHAZ, EMD, TERF1, TERF2, CBL, PPP2R4, AGO3, YWHAQ, MME, HDAC5, NCOA3, CREBBP, UBE3A, ARRB1, ARRB2, SIRT7, TRAF4, SP1, ISG15, FBXO25, CDK2, CUL1, TRIM72, GRK5, UBASH3B, PIK3R2, SHC1, MYL6, SPTAN1, HSP90AB1, ACTA2, MYH10, HNRNPU, FLNA, ACTR1A, RAB11A, EIF4B, SEL1L, ATP5A1, SEPT7, RALA, HSPA5, TUBA4A, EIF3A, EIF3C, TPM4, MRPS18B, PSME3, HSPA1A, ESR1, TSGA10, EIF4A3, MAGOH, TRAF3IP1, MEN1, HSP90AA1, VCAM1, FN1, IQCB1, ITGA4, PAN2, ACE, ACTB, CSNK2A1, PIK3C3, PPP2CA, CASP4, TARDBP, AKAP10, CDC73, MYH14, OTUD6B, MYL12A, RPA1, RPA2, RPA3, LGR4, IVNS1ABP, TP53, HUWE1, ALK, UBE2I, EED, AMFR, OS9, SYVN1, ATG9A, USP7, HNRNPA1, ATP5L, MYO1E, SRSF5, SSB, NTRK1, ACTA1, ACTG1, ACTN4, ACTN1, AP2A1, AP2B1, ANXA2, APOB, DST, CALD1, CALM1, CALML3, CAPZA1, CAPZA2, CAPZB, CD44, CFL1, CFL2, AP2M1, CLTA, CLTB, CLTC, CPM, DAB2, DAPK3, DBN1, DSG2, CTTN, STOM, EPS15, FLII, FLNB, FYN, GNAI1, GNAI2, GNAS, GNB2, GSN, HIP1, ITPR2, ITPR3, JUP, LGALS1, ABLIM1, LMO7, LSS, LYN, MYO1B, MSN, PDLIM7, ANLN, MYO19, MYO18A, MYLK, MYO1C, MYO5A, MYO5B, MYO6, PPP1R12A, PPP1R12B, NAP1L1, PAWR, PIK3C2A, PLEC, PLS1, PPIA, PPP1CA, PPP1CB, PPP1CC, PSMB10, TWF1, PEX5, RPL22, SIPA1, SORD, SPTBN1, SPTBN2, SSFA2, ST5, SVIL, TCEA2, TMOD1, TNFAIP1, TPM1, TPM2, TPM3, CORO2A, YES1, LUZP1, PICALM, PIP5K1A, SORBS2, IQGAP1, HIP1R, GPRC5A, LRRFIP2, CLINT1, ARHGAP11A, ARHGEF17, SEC16A, WDR1, ARPC4, ARPC3, ARPC1B, ACTR3, ACTR2, ARPC2, BCAP31, FLOT1, BASP1, IMMT, RBPMS, DSTN, TRIOBP, CEP250, AKAP2, TWF2, SYNPO, CEP162, LIMCH1, PALLD, SIPA1L3, MPRIP, COBL, KIF13B, SPECC1L, ATP13A2, MACF1, CORO1C, STX12, GCA, PLEKHG3, RAI14, ZBTB20, AHDC1, PACSIN3, TMOD3, PNMA3, FCF1, CEP83, LIMA1, GTSE1, KDM3B, UACA, CDCA8, BMP2K, UNC45A, MYO5C, GNG12, MUC13, CORO1B, MICAL3, ARHGAP21, SHROOM3, AFAP1, INF2, NARFL, METTL17, AHNAK, EFHD2, CYBRD1, WDR76, DSN1, RNF170, TRIM56, ARPC5L, ANTXR1, LZTS2, PPP1R9B, CEP89, STON2, DOCK7, DIXDC1, SSH2, NEXN, ELMSAN1, SPECC1, CCDC102A, FCHO2, MISP, JMY, CD109, ACTRT1, MYL6B, CCDC50, OARD1, GAS2L3, TTLL6, TPRN, ACTBL2, MCM2, MCM5, SNW1, CDC5L, BOP1, PES1, EGFR, CDH1, C9orf156, MYL3, H2AFY, CYLD, TRIM25, BRCA1, HDAC6 |
| - 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 |
RelatedDrugs for COL6A2_MYH9 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | MYH9 | P35579 | DB11638 | Artenimol | Myosin-9 | small molecule | approved|investigational |
Top |
RelatedDiseases for COL6A2_MYH9 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | COL6A2 | C1834674 | Bethlem myopathy | 4 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL6A2 | C0410179 | Scleroatonic muscular dystrophy | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL6A2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | COL6A2 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| Tgene | MYH9 | C0403445 | Fechtner syndrome (disorder) | 9 | UNIPROT |
| Tgene | MYH9 | C0398641 | Epstein syndrome (disorder) | 7 | UNIPROT |
| Tgene | MYH9 | C0340978 | May-Hegglin anomaly | 6 | UNIPROT |
| Tgene | MYH9 | C0022661 | Kidney Failure, Chronic | 2 | CTD_human |
| Tgene | MYH9 | C1854520 | SEBASTIAN SYNDROME | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | MYH9 | C0017668 | Focal glomerulosclerosis | 1 | CTD_human |
| Tgene | MYH9 | C0020544 | Renal hypertension | 1 | CTD_human |
| Tgene | MYH9 | C0027706 | Hereditary nephritis | 1 | CTD_human |
| Tgene | MYH9 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | MYH9 | C1863659 | DEAFNESS, AUTOSOMAL DOMINANT 17 | 1 | UNIPROT |
| Tgene | MYH9 | C2673482 | Increased susceptibility to schizophrenia | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|