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Fusion gene ID: 27810 |
FusionGeneSummary for PMS1_HIBCH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PMS1_HIBCH | Fusion gene ID: 27810 | Hgene | Tgene | Gene symbol | PMS1 | HIBCH | Gene ID | 5378 | 26275 |
| Gene name | PMS1 homolog 1, mismatch repair system component | 3-hydroxyisobutyryl-CoA hydrolase | |
| Synonyms | HNPCC3|MLH2|PMSL1|hPMS1 | HIBYLCOAH | |
| Cytomap | 2q32.2 | 2q32.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | PMS1 protein homolog 1DNA mismatch repair protein PMS1PMS1 postmeiotic segregation increased 1human homolog of yeast mutLmismatch repair gene PMSL1rhabdomyosarcoma antigen MU-RMS-40.10Brhabdomyosarcoma antigen MU-RMS-40.10E | 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial3-hydroxyisobutyryl-Coenzyme A hydrolaseHIB-CoA hydrolaseHIBYL-CoA-Htesticular tissue protein Li 86 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P54277 | Q6NVY1 | |
| Ensembl transtripts involved in fusion gene | ENST00000441310, ENST00000418224, ENST00000409823, ENST00000421722, ENST00000447232, ENST00000432292, ENST00000409985, ENST00000374826, | ENST00000392332, ENST00000359678, ENST00000410045, ENST00000486981, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 3 X 2 X 3=18 |
| # samples | 4 | 3 | |
| ** MAII score | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PMS1 [Title/Abstract] AND HIBCH [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Transcription factor involved fusion gene, inframe and retained DNA-binding 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 |
| 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-CV-7418-01A | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| * 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 | ENST00000441310 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000441310 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000441310 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| 5CDS-intron | ENST00000441310 | ENST00000486981 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000418224 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000418224 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000418224 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| 5CDS-intron | ENST00000418224 | ENST00000486981 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000409823 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000409823 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000409823 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| 5CDS-intron | ENST00000409823 | ENST00000486981 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000421722 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000421722 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000421722 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-intron | ENST00000421722 | ENST00000486981 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000447232 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000447232 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000447232 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| 5CDS-intron | ENST00000447232 | ENST00000486981 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000432292 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000432292 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| In-frame | ENST00000432292 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| 5CDS-intron | ENST00000432292 | ENST00000486981 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000409985 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000409985 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000409985 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-intron | ENST00000409985 | ENST00000486981 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000374826 | ENST00000392332 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000374826 | ENST00000359678 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-3CDS | ENST00000374826 | ENST00000410045 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
| intron-intron | ENST00000374826 | ENST00000486981 | PMS1 | chr2 | 190738382 | + | HIBCH | chr2 | 191110938 | - |
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FusionProtFeatures for PMS1_HIBCH |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PMS1 | HIBCH |
| Probably involved in the repair of mismatches in DNA.{ECO:0000269|PubMed:10748105}. | Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a salinecatabolite. Has high activity toward isobutyryl-CoA. Could be anisobutyryl-CoA dehydrogenase that functions in valine catabolism.Also hydrolyzes 3-hydroxypropanoyl-CoA.{ECO:0000269|PubMed:8824301}. |
| 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 | PMS1 | chr2:190738382 | chr2:191110938 | ENST00000409823 | + | 11 | 12 | 571_639 | 839 | 894 | DNA binding | HMG box |
| Hgene | PMS1 | chr2:190738382 | chr2:191110938 | ENST00000441310 | + | 12 | 13 | 571_639 | 878 | 933 | DNA binding | HMG box |
| Hgene | PMS1 | chr2:190738382 | chr2:191110938 | ENST00000447232 | + | 11 | 12 | 571_639 | 716 | 771 | DNA binding | HMG box |
| - 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 |
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FusionGeneSequence for PMS1_HIBCH |
| 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_PMS1_ENST00000441310_chr2_190738382_+_HIBCH_ENST00000392332_chr2_191110938_-_967aa MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLENLTTY GFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDLLMSFG ILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQK DILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAADIVL SKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQ TEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIPEQMN LNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATKDLER YNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKVDLEE KDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGSTYLSD PRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKINSCF >In-frame_PMS1_ENST00000441310_chr2_190738382_+_HIBCH_ENST00000359678_chr2_191110938_-_1015aa MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLENLTTY GFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDLLMSFG ILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQK DILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAADIVL SKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQ TEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIPEQMN LNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATKDLER YNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKVDLEE KDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGSTYLSD PRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKINSCF SANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWKPA >In-frame_PMS1_ENST00000441310_chr2_190738382_+_HIBCH_ENST00000410045_chr2_191110938_-_1015aa MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLENLTTY GFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDLLMSFG ILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQK DILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAADIVL SKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQ TEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIPEQMN LNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATKDLER YNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKVDLEE KDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGSTYLSD PRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKINSCF SANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWKPA >In-frame_PMS1_ENST00000418224_chr2_190738382_+_HIBCH_ENST00000392332_chr2_191110938_-_791aa MSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRP VHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAA DIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSW ENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIP EQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATK DLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKV DLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGST YLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKI >In-frame_PMS1_ENST00000418224_chr2_190738382_+_HIBCH_ENST00000359678_chr2_191110938_-_839aa MSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRP VHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAA DIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSW ENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIP EQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATK DLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKV DLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGST YLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKI NSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPK >In-frame_PMS1_ENST00000418224_chr2_190738382_+_HIBCH_ENST00000410045_chr2_191110938_-_839aa MSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRP VHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAA DIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSW ENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIP EQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATK DLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKV DLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGST YLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKI NSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPK >In-frame_PMS1_ENST00000409823_chr2_190738382_+_HIBCH_ENST00000392332_chr2_191110938_-_928aa MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLENLTTY GFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDLLMSFG ILKPDLRIVFVHNKIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVN LTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDES GKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLEN SSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASA LFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLK TSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFK RLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVAD LKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITL >In-frame_PMS1_ENST00000409823_chr2_190738382_+_HIBCH_ENST00000359678_chr2_191110938_-_976aa MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLENLTTY GFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDLLMSFG ILKPDLRIVFVHNKIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVN LTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDES GKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLEN SSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASA LFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLK TSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFK RLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVAD LKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITL >In-frame_PMS1_ENST00000409823_chr2_190738382_+_HIBCH_ENST00000410045_chr2_191110938_-_976aa MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLENLTTY GFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDLLMSFG ILKPDLRIVFVHNKIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVN LTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDES GKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLEN SSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASA LFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLK TSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFK RLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVAD LKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITL >In-frame_PMS1_ENST00000447232_chr2_190738382_+_HIBCH_ENST00000392332_chr2_191110938_-_805aa MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLENLTTY GFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDLLMSFG ILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQK DILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAADIVL SKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQ TEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIPEQMN LNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLNLFNGSHYLDVL YKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKID >In-frame_PMS1_ENST00000447232_chr2_190738382_+_HIBCH_ENST00000359678_chr2_191110938_-_853aa MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLENLTTY GFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDLLMSFG ILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQK DILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAADIVL SKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQ TEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIPEQMN LNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLNLFNGSHYLDVL YKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKID RDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHE >In-frame_PMS1_ENST00000447232_chr2_190738382_+_HIBCH_ENST00000410045_chr2_191110938_-_853aa MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLENLTTY GFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDLLMSFG ILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQK DILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAADIVL SKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQ TEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIPEQMN LNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLNLFNGSHYLDVL YKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKID RDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHE >In-frame_PMS1_ENST00000432292_chr2_190738382_+_HIBCH_ENST00000392332_chr2_191110938_-_791aa MSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRP VHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAA DIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSW ENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIP EQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATK DLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKV DLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGST YLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKI >In-frame_PMS1_ENST00000432292_chr2_190738382_+_HIBCH_ENST00000359678_chr2_191110938_-_839aa MSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRP VHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAA DIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSW ENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIP EQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATK DLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKV DLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGST YLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKI NSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPK >In-frame_PMS1_ENST00000432292_chr2_190738382_+_HIBCH_ENST00000410045_chr2_191110938_-_839aa MSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRP VHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAA DIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSW ENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIP EQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATK DLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKV DLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGST YLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLESKIDRDKSFILEEHMDKI NSCFSANTVEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPK |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_PMS1_ENST00000441310_chr2_190738382_+_HIBCH_ENST00000392332_chr2_191110938_-_2901nt ATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAA AACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGT ATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTAC GGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAG TATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAG AATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGT ATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTC ATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTT CCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAA GATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGAT GTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAA AATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTT AGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTC CAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCAT TGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAG ACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAA AATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAG AATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAAT CTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTA ATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGAT GCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGA TACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGG AATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGG AGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAG AAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATAT AGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAG AGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGAT CCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAAT TGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCT CGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTT TCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATG TCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTA >In-frame_PMS1_ENST00000441310_chr2_190738382_+_HIBCH_ENST00000359678_chr2_191110938_-_3045nt ATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAA AACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGT ATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTAC GGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAG TATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAG AATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGT ATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTC ATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTT CCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAA GATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGAT GTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAA AATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTT AGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTC CAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCAT TGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAG ACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAA AATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAG AATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAAT CTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTA ATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGAT GCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGA TACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGG AATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGG AGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAG AAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATAT AGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAG AGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGAT CCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAAT TGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCT CGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTT TCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATG TCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTA AGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCT >In-frame_PMS1_ENST00000441310_chr2_190738382_+_HIBCH_ENST00000410045_chr2_191110938_-_3045nt ATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAA AACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGT ATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTAC GGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAG TATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAG AATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGT ATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTC ATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTT CCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAA GATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGAT GTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAA AATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTT AGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTC CAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCAT TGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAG ACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAA AATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAG AATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAAT CTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTA ATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGAT GCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGA TACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGG AATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGG AGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAG AAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATAT AGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAG AGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGAT CCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAAT TGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCT CGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTT TCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATG TCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTA AGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCT >In-frame_PMS1_ENST00000418224_chr2_190738382_+_HIBCH_ENST00000392332_chr2_191110938_-_2373nt ATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCAC AAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTC AGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCA GTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTT CTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTA ATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCT GACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCA GTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTT GGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGG GAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGAT GAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAAT TCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCT GAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTT AGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACT AGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAA GACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCC ACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATT GAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTT GACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTA TTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATT ATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACT TACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAA GGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTAT GAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATA AACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTA ATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATG >In-frame_PMS1_ENST00000418224_chr2_190738382_+_HIBCH_ENST00000359678_chr2_191110938_-_2517nt ATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCAC AAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTC AGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCA GTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTT CTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTA ATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCT GACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCA GTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTT GGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGG GAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGAT GAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAAT TCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCT GAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTT AGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACT AGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAA GACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCC ACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATT GAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTT GACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTA TTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATT ATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACT TACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAA GGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTAT GAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATA AACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTA ATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATG GAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAA >In-frame_PMS1_ENST00000418224_chr2_190738382_+_HIBCH_ENST00000410045_chr2_191110938_-_2517nt ATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCAC AAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTC AGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCA GTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTT CTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTA ATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCT GACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCA GTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTT GGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGG GAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGAT GAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAAT TCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCT GAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTT AGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACT AGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAA GACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCC ACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATT GAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTT GACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTA TTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATT ATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACT TACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAA GGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTAT GAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATA AACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTA ATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATG GAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAA >In-frame_PMS1_ENST00000409823_chr2_190738382_+_HIBCH_ENST00000392332_chr2_191110938_-_2784nt ATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAA AACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGT ATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTAC GGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAG TATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAG AATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGT ATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTC ACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCAT TACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAAT TTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCA TTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTT TTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCT GGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGAT AAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATA AGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAAC TCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTG CCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAA TCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCT CTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGG AAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATT GAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAA ACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATC CCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAAT CTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAA AGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTA GACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAG ATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGAT TTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCT AAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATT GAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTA >In-frame_PMS1_ENST00000409823_chr2_190738382_+_HIBCH_ENST00000359678_chr2_191110938_-_2928nt ATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAA AACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGT ATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTAC GGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAG TATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAG AATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGT ATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTC ACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCAT TACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAAT TTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCA TTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTT TTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCT GGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGAT AAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATA AGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAAC TCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTG CCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAA TCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCT CTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGG AAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATT GAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAA ACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATC CCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAAT CTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAA AGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTA GACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAG ATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGAT TTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCT AAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATT GAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTA AGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGAC TTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGAT >In-frame_PMS1_ENST00000409823_chr2_190738382_+_HIBCH_ENST00000410045_chr2_191110938_-_2928nt ATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAA AACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGT ATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTAC GGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAG TATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAG AATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGT ATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTC ACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCAT TACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAAT TTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCA TTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTT TTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCT GGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGAT AAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATA AGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAAC TCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTG CCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAA TCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCT CTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGG AAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATT GAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAA ACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATC CCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAAT CTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAA AGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTA GACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAG ATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGAT TTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCT AAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATT GAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTA AGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGAC TTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGAT >In-frame_PMS1_ENST00000447232_chr2_190738382_+_HIBCH_ENST00000392332_chr2_191110938_-_2415nt ATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAA AACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGT ATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTAC GGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAG TATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAG AATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGT ATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTC ATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTT CCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAA GATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGAT GTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAA AATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTT AGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTC CAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCAT TGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAG ACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAA AATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAG AATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAAT CTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTA ATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGAT GCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAATCTTTTTAATGGATCTCATTATTTAGACGTTTTA TATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTG ATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAA ATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGAT CGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTA CAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTC >In-frame_PMS1_ENST00000447232_chr2_190738382_+_HIBCH_ENST00000359678_chr2_191110938_-_2559nt ATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAA AACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGT ATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTAC GGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAG TATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAG AATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGT ATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTC ATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTT CCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAA GATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGAT GTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAA AATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTT AGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTC CAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCAT TGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAG ACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAA AATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAG AATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAAT CTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTA ATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGAT GCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAATCTTTTTAATGGATCTCATTATTTAGACGTTTTA TATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTG ATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAA ATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGAT CGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTA CAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTC ATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAA GGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAAT >In-frame_PMS1_ENST00000447232_chr2_190738382_+_HIBCH_ENST00000410045_chr2_191110938_-_2559nt ATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAA AACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGT ATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTAC GGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAG TATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAG AATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGT ATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTC ATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTT CCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAA GATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGAT GTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAA AATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTT AGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTC CAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCAT TGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAG ACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAA AATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAG AATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAAT CTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTA ATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGAT GCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAATCTTTTTAATGGATCTCATTATTTAGACGTTTTA TATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTG ATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAA ATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGAT CGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTA CAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTC ATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAA GGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAAT >In-frame_PMS1_ENST00000432292_chr2_190738382_+_HIBCH_ENST00000392332_chr2_191110938_-_2373nt ATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCAC AAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTC AGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCA GTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTT CTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTA ATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCT GACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCA GTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTT GGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGG GAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGAT GAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAAT TCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCT GAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTT AGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACT AGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAA GACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCC ACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATT GAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTT GACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTA TTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATT ATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACT TACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAA GGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTAT GAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATA AACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTA ATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATG >In-frame_PMS1_ENST00000432292_chr2_190738382_+_HIBCH_ENST00000359678_chr2_191110938_-_2517nt ATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCAC AAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTC AGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCA GTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTT CTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTA ATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCT GACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCA GTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTT GGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGG GAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGAT GAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAAT TCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCT GAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTT AGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACT AGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAA GACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCC ACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATT GAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTT GACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTA TTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATT ATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACT TACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAA GGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTAT GAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATA AACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTA ATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATG GAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAA >In-frame_PMS1_ENST00000432292_chr2_190738382_+_HIBCH_ENST00000410045_chr2_191110938_-_2517nt ATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCAC AAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTC AGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCA GTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTT CTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTA ATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCT GACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCA GTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTT GGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGG GAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGAT GAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAAT TCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCT GAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTT AGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACT AGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAA GACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCC ACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATT GAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTT GACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTA TTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATT ATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACT TACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAA GGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTAT GAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATA AACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTA ATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATG GAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_PMS1_ENST00000441310_chr2_190738382_+_HIBCH_ENST00000392332_chr2_191110938_-_4440nt AGACTCGCTGCCAGCGGATTGGCTGCGAGCAGCGCCAATCTCACGTTGCCCCCGGGCGAGGCGGGACTCAGTGCCGCGCTCTCTGCACCC GCTCTGCCGCGCGCGTGCGTGCTGGGTGCGGGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTG GATGGTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTT CAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTA AACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGT ACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTA TAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGA AACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAA AAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATA ACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGG AATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTT CAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGA AATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAG ATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTA CAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAG TGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACA CTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTA AGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTA AGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAA TTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAA GTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAA TAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTC AAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGA GTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGT CACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTAT CTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTA TGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTC CTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTG AGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTAT ATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGA TACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAA TTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATC GAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTAC AGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCA TGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGTTTTAATTGATAAAGACCAGAG TCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATT TTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTGCTGCCTGTTTTTAT ATACCCTGTAAGCTAAGAATGGTTTCCGCATTTTTAAATGGTTGGGAAAAGAAATCAAAGACTAATAATTCATGACGTGAAAATTATCAG AATTCACAAATAAAGCTTTATTGGAACTAGCTATACTCATCTGTTTATATATTATCTGTGGCTGCTTTGAAATGAGTAGTTGCAATAGAG ATGGTAAAGCCTACAAAGCCTAATTATTTACTGTCTGGTTTTTGTCAGAAAAAAGTTTGTCAATCCTTGTTTTAGAAGATGGAAAAATGT GAAGATCTTTGGAGATTCTCTTGAGTGGTATATCTAATTGAAATGGGATCTTCGTTTGGCTTGTATGTTGATGAAATCAACTTAGGTATA CAATATAAAAAATAAAGACCCTGAAAATTGTTTTGGATACTGTGTTAATGCCTCATAGAATTTTTGTTTTGGATACTGTGTTAATGCCTC ATAGAATTTTCTCCATATATGAGTGTGTTTTAAAGTAACTGAGTTACTGTAGCAGAAGAGCTCCTTTTATAAACATTAGAAACCTTGGGC AGAGAGAAAAGATTTTTATTAACGTCCCTCTTCAGTATTAACTCAGACTTGGTCTTCCCTAAAATAATCAGAATACCATCCCATGGTGAA ACTGAAAGGATTATTTTCTTGTTATTTGTGATATTTGTTAATCTGGTAGAATGAGAAATTAGGAAACTCCAATCTCTTAGATAGAGACAC TCTGTTTTTTTATAATTTACGTAAGACTTTTGTGTGATAATTATCCTTACAAACAAGGTTCAAGTCAGGAGAAAAAAATTAATTGAAAGC AAGAAGACTTTTGTTCAAAAGATATATTCAATAATTGATATTGTTAATGAAGTAAGTACTTTTTAAGGTATGAAAGAACTAAAAGGTATT CCAGACTCAGAACCTTAAAGTTCTAGGCAAGAATAATTTTTAAACTAAAGGTAAGTTTATAAATTAACAAAGTAAACAAAATTTATGATT TTGTTTTTTGTTTGTAATTTTTGTTTAATTTTAAAGGTAAGTTTATAAATTAACAAACAAAATTTATAATTTTTTGTTTGTAATTTTTGT >In-frame_PMS1_ENST00000441310_chr2_190738382_+_HIBCH_ENST00000359678_chr2_191110938_-_3761nt AGACTCGCTGCCAGCGGATTGGCTGCGAGCAGCGCCAATCTCACGTTGCCCCCGGGCGAGGCGGGACTCAGTGCCGCGCTCTCTGCACCC GCTCTGCCGCGCGCGTGCGTGCTGGGTGCGGGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTG GATGGTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTT CAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTA AACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGT ACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTA TAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGA AACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAA AAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATA ACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGG AATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTT CAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGA AATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAG ATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTA CAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAG TGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACA CTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTA AGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTA AGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAA TTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAA GTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAA TAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTC AAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGA GTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGT CACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTAT CTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTA TGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTC CTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTG AGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTAT ATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGA TACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAA TTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATC GAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTAC AGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCA TGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAG GCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATC ACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCA TGTGGGCCAAATCCAGCCTGCTGCCTGTTTTTATATACCCTGTAAGCTAAGAATGGTTTCCGCATTTTTAAATGGTTGGGAAAAGAAATC AAAGACTAATAATTCATGACGTGAAAATTATCAGAATTCACAAATAAAGCTTTATTGGAACTAGCTATACTCATCTGTTTATATATTATC TGTGGCTGCTTTGAAATGAGTAGTTGCAATAGAGATGGTAAAGCCTACAAAGCCTAATTATTTACTGTCTGGTTTTTGTCAGAAAAAAGT TTGTCAATCCTTGTTTTAGAAGATGGAAAAATGTGAAGATCTTTGGAGATTCTCTTGAGTGGTATATCTAATTGAAATGGGATCTTCGTT >In-frame_PMS1_ENST00000441310_chr2_190738382_+_HIBCH_ENST00000410045_chr2_191110938_-_3380nt AGACTCGCTGCCAGCGGATTGGCTGCGAGCAGCGCCAATCTCACGTTGCCCCCGGGCGAGGCGGGACTCAGTGCCGCGCTCTCTGCACCC GCTCTGCCGCGCGCGTGCGTGCTGGGTGCGGGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTG GATGGTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTT CAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTA AACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGT ACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTA TAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGA AACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAA AAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATA ACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGG AATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTT CAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGA AATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAG ATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTA CAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAG TGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACA CTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTA AGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTA AGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAA TTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAA GTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAA TAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTC AAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGA GTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGT CACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTAT CTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTA TGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTC CTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTG AGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTAT ATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGA TACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAA TTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATC GAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTAC AGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCA TGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAG GCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATC ACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCA >In-frame_PMS1_ENST00000418224_chr2_190738382_+_HIBCH_ENST00000392332_chr2_191110938_-_4229nt GTGCTGGGTGCGGGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCT CGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCA CTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGAT TTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAA ATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTACAACTGT AACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCA AGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGT ATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCA GATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAA CAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCC TGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGA ATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGT TTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGT TGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTAT TGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAA TGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGA CCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATAT ACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTA TCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTA TGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAA TCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAA GGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAA GATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCA GTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACA AAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGA GGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGA AAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAG TGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTT GGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAA GGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACAT GGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCA ATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGT ACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAA GTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTG TAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTGCTGCCTGTTTTTATATACCCTGTAAGCTAAGAATGGTTTCCGCAT TTTTAAATGGTTGGGAAAAGAAATCAAAGACTAATAATTCATGACGTGAAAATTATCAGAATTCACAAATAAAGCTTTATTGGAACTAGC TATACTCATCTGTTTATATATTATCTGTGGCTGCTTTGAAATGAGTAGTTGCAATAGAGATGGTAAAGCCTACAAAGCCTAATTATTTAC TGTCTGGTTTTTGTCAGAAAAAAGTTTGTCAATCCTTGTTTTAGAAGATGGAAAAATGTGAAGATCTTTGGAGATTCTCTTGAGTGGTAT ATCTAATTGAAATGGGATCTTCGTTTGGCTTGTATGTTGATGAAATCAACTTAGGTATACAATATAAAAAATAAAGACCCTGAAAATTGT TTTGGATACTGTGTTAATGCCTCATAGAATTTTTGTTTTGGATACTGTGTTAATGCCTCATAGAATTTTCTCCATATATGAGTGTGTTTT AAAGTAACTGAGTTACTGTAGCAGAAGAGCTCCTTTTATAAACATTAGAAACCTTGGGCAGAGAGAAAAGATTTTTATTAACGTCCCTCT TCAGTATTAACTCAGACTTGGTCTTCCCTAAAATAATCAGAATACCATCCCATGGTGAAACTGAAAGGATTATTTTCTTGTTATTTGTGA TATTTGTTAATCTGGTAGAATGAGAAATTAGGAAACTCCAATCTCTTAGATAGAGACACTCTGTTTTTTTATAATTTACGTAAGACTTTT GTGTGATAATTATCCTTACAAACAAGGTTCAAGTCAGGAGAAAAAAATTAATTGAAAGCAAGAAGACTTTTGTTCAAAAGATATATTCAA TAATTGATATTGTTAATGAAGTAAGTACTTTTTAAGGTATGAAAGAACTAAAAGGTATTCCAGACTCAGAACCTTAAAGTTCTAGGCAAG AATAATTTTTAAACTAAAGGTAAGTTTATAAATTAACAAAGTAAACAAAATTTATGATTTTGTTTTTTGTTTGTAATTTTTGTTTAATTT >In-frame_PMS1_ENST00000418224_chr2_190738382_+_HIBCH_ENST00000359678_chr2_191110938_-_3550nt GTGCTGGGTGCGGGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCT CGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCA CTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGAT TTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAA ATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTACAACTGT AACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCA AGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGT ATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCA GATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAA CAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCC TGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGA ATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGT TTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGT TGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTAT TGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAA TGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGA CCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATAT ACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTA TCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTA TGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAA TCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAA GGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAA GATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCA GTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACA AAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGA GGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGA AAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAG TGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTT GGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAA GGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACAT GGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCA ATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGT ACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCA GAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAA ATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTGCTGCCTGTTTT TATATACCCTGTAAGCTAAGAATGGTTTCCGCATTTTTAAATGGTTGGGAAAAGAAATCAAAGACTAATAATTCATGACGTGAAAATTAT CAGAATTCACAAATAAAGCTTTATTGGAACTAGCTATACTCATCTGTTTATATATTATCTGTGGCTGCTTTGAAATGAGTAGTTGCAATA GAGATGGTAAAGCCTACAAAGCCTAATTATTTACTGTCTGGTTTTTGTCAGAAAAAAGTTTGTCAATCCTTGTTTTAGAAGATGGAAAAA TGTGAAGATCTTTGGAGATTCTCTTGAGTGGTATATCTAATTGAAATGGGATCTTCGTTTGGCTTGTATGTTGATGAAATCAACTTAGGT >In-frame_PMS1_ENST00000418224_chr2_190738382_+_HIBCH_ENST00000410045_chr2_191110938_-_3169nt GTGCTGGGTGCGGGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCT CGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCA CTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGAT TTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAA ATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTACAACTGT AACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCA AGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGT ATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCA GATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAA CAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCC TGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGA ATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGT TTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGT TGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTAT TGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAA TGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGA CCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATAT ACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTA TCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTA TGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAA TCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAA GGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAA GATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCA GTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACA AAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGA GGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGA AAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAG TGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTT GGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAA GGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACAT GGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCA ATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGT ACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCA GAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAA ATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTGCTGCCTGTTTT >In-frame_PMS1_ENST00000409823_chr2_190738382_+_HIBCH_ENST00000392332_chr2_191110938_-_4203nt GGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCTCGCGCTAGCAGG AAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCA GTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTG AGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAG ATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGG CTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTG TAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCC AAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGATTTATCTCAGTGGATTTCTTCCAA AGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATA TCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTC CTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATC TGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTA AAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAA ATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTA GTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGG AATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATG AGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATA TTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTA ATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCA AGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAA CACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGATACA ATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATT TGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTC AAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGG ATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATATAGAG TAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTC TTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTC GTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTC TCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCA AAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAG CCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTC CAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTC AAGCTTGTATGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCA CTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCAT GTGGGCCAAATCCAGCCTGCTGCCTGTTTTTATATACCCTGTAAGCTAAGAATGGTTTCCGCATTTTTAAATGGTTGGGAAAAGAAATCA AAGACTAATAATTCATGACGTGAAAATTATCAGAATTCACAAATAAAGCTTTATTGGAACTAGCTATACTCATCTGTTTATATATTATCT GTGGCTGCTTTGAAATGAGTAGTTGCAATAGAGATGGTAAAGCCTACAAAGCCTAATTATTTACTGTCTGGTTTTTGTCAGAAAAAAGTT TGTCAATCCTTGTTTTAGAAGATGGAAAAATGTGAAGATCTTTGGAGATTCTCTTGAGTGGTATATCTAATTGAAATGGGATCTTCGTTT GGCTTGTATGTTGATGAAATCAACTTAGGTATACAATATAAAAAATAAAGACCCTGAAAATTGTTTTGGATACTGTGTTAATGCCTCATA GAATTTTTGTTTTGGATACTGTGTTAATGCCTCATAGAATTTTCTCCATATATGAGTGTGTTTTAAAGTAACTGAGTTACTGTAGCAGAA GAGCTCCTTTTATAAACATTAGAAACCTTGGGCAGAGAGAAAAGATTTTTATTAACGTCCCTCTTCAGTATTAACTCAGACTTGGTCTTC CCTAAAATAATCAGAATACCATCCCATGGTGAAACTGAAAGGATTATTTTCTTGTTATTTGTGATATTTGTTAATCTGGTAGAATGAGAA ATTAGGAAACTCCAATCTCTTAGATAGAGACACTCTGTTTTTTTATAATTTACGTAAGACTTTTGTGTGATAATTATCCTTACAAACAAG GTTCAAGTCAGGAGAAAAAAATTAATTGAAAGCAAGAAGACTTTTGTTCAAAAGATATATTCAATAATTGATATTGTTAATGAAGTAAGT ACTTTTTAAGGTATGAAAGAACTAAAAGGTATTCCAGACTCAGAACCTTAAAGTTCTAGGCAAGAATAATTTTTAAACTAAAGGTAAGTT TATAAATTAACAAAGTAAACAAAATTTATGATTTTGTTTTTTGTTTGTAATTTTTGTTTAATTTTAAAGGTAAGTTTATAAATTAACAAA >In-frame_PMS1_ENST00000409823_chr2_190738382_+_HIBCH_ENST00000359678_chr2_191110938_-_3524nt GGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCTCGCGCTAGCAGG AAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCA GTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTG AGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAG ATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGG CTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTG TAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCC AAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGATTTATCTCAGTGGATTTCTTCCAA AGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATA TCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTC CTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATC TGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTA AAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAA ATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTA GTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGG AATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATG AGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATA TTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTA ATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCA AGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAA CACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGATACA ATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATT TGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTC AAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGG ATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATATAGAG TAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTC TTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTC GTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTC TCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCA AAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAG CCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTC CAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTC AAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATC TAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGT ATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTGCTGCCTGTTTTTATATACCCTGTAAGCTAAGAATGGT TTCCGCATTTTTAAATGGTTGGGAAAAGAAATCAAAGACTAATAATTCATGACGTGAAAATTATCAGAATTCACAAATAAAGCTTTATTG GAACTAGCTATACTCATCTGTTTATATATTATCTGTGGCTGCTTTGAAATGAGTAGTTGCAATAGAGATGGTAAAGCCTACAAAGCCTAA TTATTTACTGTCTGGTTTTTGTCAGAAAAAAGTTTGTCAATCCTTGTTTTAGAAGATGGAAAAATGTGAAGATCTTTGGAGATTCTCTTG AGTGGTATATCTAATTGAAATGGGATCTTCGTTTGGCTTGTATGTTGATGAAATCAACTTAGGTATACAATATAAAAAATAAAGACCCTG >In-frame_PMS1_ENST00000409823_chr2_190738382_+_HIBCH_ENST00000410045_chr2_191110938_-_3143nt GGTGCGGGTGCGGGGTTGGGCCTGCGCATCGGGTGAGACGCTGGCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCTCGCGCTAGCAGG AAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCA GTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTG AGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAG ATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGG CTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTG TAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCC AAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGATTTATCTCAGTGGATTTCTTCCAA AGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATA TCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTC CTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATC TGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTA AAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAA ATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTA GTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGG AATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATG AGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATA TTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTA ATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCA AGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAA CACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAATATGAAGAGAAGGCTACTAAAGACTTGGAACGATACA ATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATT TGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTC AAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGG ATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCCAAAACAGAGGTAATGTTATTAAATCCATATAGAG TAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTC TTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTC GTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTC TCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCA AAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTTGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAG CCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTTGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTC CAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACCTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTC AAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATC TAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGT >In-frame_PMS1_ENST00000447232_chr2_190738382_+_HIBCH_ENST00000392332_chr2_191110938_-_3791nt GCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGC AACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGC CACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACC TGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTT GGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGG CCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCA GTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAG GATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGC TGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCA CTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCG ACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGA TGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTA TGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGA TGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGA TGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAA CATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTG TTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCT TGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAAT TTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAA CAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGC AAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGA ACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAATCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGA CCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTAC TGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAA CAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACT TGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTT TGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGAC CTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCT GATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTA AGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTGCTGCCTGTTTTTATATACCCTGTAAGCTAAGAA TGGTTTCCGCATTTTTAAATGGTTGGGAAAAGAAATCAAAGACTAATAATTCATGACGTGAAAATTATCAGAATTCACAAATAAAGCTTT ATTGGAACTAGCTATACTCATCTGTTTATATATTATCTGTGGCTGCTTTGAAATGAGTAGTTGCAATAGAGATGGTAAAGCCTACAAAGC CTAATTATTTACTGTCTGGTTTTTGTCAGAAAAAAGTTTGTCAATCCTTGTTTTAGAAGATGGAAAAATGTGAAGATCTTTGGAGATTCT CTTGAGTGGTATATCTAATTGAAATGGGATCTTCGTTTGGCTTGTATGTTGATGAAATCAACTTAGGTATACAATATAAAAAATAAAGAC CCTGAAAATTGTTTTGGATACTGTGTTAATGCCTCATAGAATTTTTGTTTTGGATACTGTGTTAATGCCTCATAGAATTTTCTCCATATA TGAGTGTGTTTTAAAGTAACTGAGTTACTGTAGCAGAAGAGCTCCTTTTATAAACATTAGAAACCTTGGGCAGAGAGAAAAGATTTTTAT TAACGTCCCTCTTCAGTATTAACTCAGACTTGGTCTTCCCTAAAATAATCAGAATACCATCCCATGGTGAAACTGAAAGGATTATTTTCT TGTTATTTGTGATATTTGTTAATCTGGTAGAATGAGAAATTAGGAAACTCCAATCTCTTAGATAGAGACACTCTGTTTTTTTATAATTTA CGTAAGACTTTTGTGTGATAATTATCCTTACAAACAAGGTTCAAGTCAGGAGAAAAAAATTAATTGAAAGCAAGAAGACTTTTGTTCAAA AGATATATTCAATAATTGATATTGTTAATGAAGTAAGTACTTTTTAAGGTATGAAAGAACTAAAAGGTATTCCAGACTCAGAACCTTAAA GTTCTAGGCAAGAATAATTTTTAAACTAAAGGTAAGTTTATAAATTAACAAAGTAAACAAAATTTATGATTTTGTTTTTTGTTTGTAATT TTTGTTTAATTTTAAAGGTAAGTTTATAAATTAACAAACAAAATTTATAATTTTTTGTTTGTAATTTTTGTTTATAAACAAAATAAATTT >In-frame_PMS1_ENST00000447232_chr2_190738382_+_HIBCH_ENST00000359678_chr2_191110938_-_3112nt GCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGC AACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGC CACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACC TGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTT GGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGG CCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCA GTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAG GATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGC TGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCA CTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCG ACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGA TGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTA TGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGA TGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGA TGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAA CATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTG TTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCT TGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAAT TTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAA CAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGC AAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGA ACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAATCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGA CCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTAC TGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAA CAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACT TGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTT TGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGAC CTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAAT TGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAG CAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCT GCTGCCTGTTTTTATATACCCTGTAAGCTAAGAATGGTTTCCGCATTTTTAAATGGTTGGGAAAAGAAATCAAAGACTAATAATTCATGA CGTGAAAATTATCAGAATTCACAAATAAAGCTTTATTGGAACTAGCTATACTCATCTGTTTATATATTATCTGTGGCTGCTTTGAAATGA GTAGTTGCAATAGAGATGGTAAAGCCTACAAAGCCTAATTATTTACTGTCTGGTTTTTGTCAGAAAAAAGTTTGTCAATCCTTGTTTTAG AAGATGGAAAAATGTGAAGATCTTTGGAGATTCTCTTGAGTGGTATATCTAATTGAAATGGGATCTTCGTTTGGCTTGTATGTTGATGAA >In-frame_PMS1_ENST00000447232_chr2_190738382_+_HIBCH_ENST00000410045_chr2_191110938_-_2731nt GCTGCTTGCGGCTAGTGGATGGTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGC AACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGC CACAAGCGTAGATGTTAAACTGGAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGTTGATGCACC TGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGTCATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTT GGGGTCAATTTGTTGTATAGCTGAGGTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAGTATGTTTTAGATGGCAGTGG CCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAGGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCA GTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAG GATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAGAAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGC TGTTATGAACAATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCA CTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCG ACATCATTACAATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGA TGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTA TGGACCATTACCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGA TGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGA TGAATCTGGAAAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAA CATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTG TTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCT TGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAAT TTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAA CAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGC AAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGA ACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAATCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGA CCAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTAC TGAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAA CAGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACT TGAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTT TGCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGAC CTTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAAT TGATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAG CAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCT >In-frame_PMS1_ENST00000432292_chr2_190738382_+_HIBCH_ENST00000392332_chr2_191110938_-_3970nt GTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAG TTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACT GGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATA AAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAG AAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCT GAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTC ATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACT CGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTA CAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAAT AAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAAT TATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCAC CAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATT TCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAAT GGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGC AGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGT AATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAA GTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTT CTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAA TATGAAGAGAAGGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGAT GGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGAT GAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAAT TTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACA TCCAAAACAGAGGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCA GAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGAC CAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACT GAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAAC AGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTT GAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTT GCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACC TTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGTTTTAATTGATAAAGACCAGAGTCCAAAATGGAAACCAGCTG ATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGCAGTGATTTGAAATTTTGAGGTGACAGGCTTTTAA GGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTGCTGCCTGTTTTTATATACCCTGTAAGCTAAGAAT GGTTTCCGCATTTTTAAATGGTTGGGAAAAGAAATCAAAGACTAATAATTCATGACGTGAAAATTATCAGAATTCACAAATAAAGCTTTA TTGGAACTAGCTATACTCATCTGTTTATATATTATCTGTGGCTGCTTTGAAATGAGTAGTTGCAATAGAGATGGTAAAGCCTACAAAGCC TAATTATTTACTGTCTGGTTTTTGTCAGAAAAAAGTTTGTCAATCCTTGTTTTAGAAGATGGAAAAATGTGAAGATCTTTGGAGATTCTC TTGAGTGGTATATCTAATTGAAATGGGATCTTCGTTTGGCTTGTATGTTGATGAAATCAACTTAGGTATACAATATAAAAAATAAAGACC CTGAAAATTGTTTTGGATACTGTGTTAATGCCTCATAGAATTTTTGTTTTGGATACTGTGTTAATGCCTCATAGAATTTTCTCCATATAT GAGTGTGTTTTAAAGTAACTGAGTTACTGTAGCAGAAGAGCTCCTTTTATAAACATTAGAAACCTTGGGCAGAGAGAAAAGATTTTTATT AACGTCCCTCTTCAGTATTAACTCAGACTTGGTCTTCCCTAAAATAATCAGAATACCATCCCATGGTGAAACTGAAAGGATTATTTTCTT GTTATTTGTGATATTTGTTAATCTGGTAGAATGAGAAATTAGGAAACTCCAATCTCTTAGATAGAGACACTCTGTTTTTTTATAATTTAC GTAAGACTTTTGTGTGATAATTATCCTTACAAACAAGGTTCAAGTCAGGAGAAAAAAATTAATTGAAAGCAAGAAGACTTTTGTTCAAAA GATATATTCAATAATTGATATTGTTAATGAAGTAAGTACTTTTTAAGGTATGAAAGAACTAAAAGGTATTCCAGACTCAGAACCTTAAAG TTCTAGGCAAGAATAATTTTTAAACTAAAGGTAAGTTTATAAATTAACAAAGTAAACAAAATTTATGATTTTGTTTTTTGTTTGTAATTT TTGTTTAATTTTAAAGGTAAGTTTATAAATTAACAAACAAAATTTATAATTTTTTGTTTGTAATTTTTGTTTATAAACAAAATAAATTTT >In-frame_PMS1_ENST00000432292_chr2_190738382_+_HIBCH_ENST00000359678_chr2_191110938_-_3291nt GTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAG TTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACT GGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATA AAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAG AAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCT GAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTC ATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACT CGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTA CAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAAT AAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAAT TATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCAC CAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATT TCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAAT GGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGC AGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGT AATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAA GTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTT CTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAA TATGAAGAGAAGGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGAT GGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGAT GAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAAT TTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACA TCCAAAACAGAGGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCA GAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGAC CAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACT GAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAAC AGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTT GAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTT GCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACC TTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATT GATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGC AGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTG CTGCCTGTTTTTATATACCCTGTAAGCTAAGAATGGTTTCCGCATTTTTAAATGGTTGGGAAAAGAAATCAAAGACTAATAATTCATGAC GTGAAAATTATCAGAATTCACAAATAAAGCTTTATTGGAACTAGCTATACTCATCTGTTTATATATTATCTGTGGCTGCTTTGAAATGAG TAGTTGCAATAGAGATGGTAAAGCCTACAAAGCCTAATTATTTACTGTCTGGTTTTTGTCAGAAAAAAGTTTGTCAATCCTTGTTTTAGA AGATGGAAAAATGTGAAGATCTTTGGAGATTCTCTTGAGTGGTATATCTAATTGAAATGGGATCTTCGTTTGGCTTGTATGTTGATGAAA >In-frame_PMS1_ENST00000432292_chr2_190738382_+_HIBCH_ENST00000410045_chr2_191110938_-_2910nt GTAATTGCCTGCCTCGCGCTAGCAGGAAGCTGCTCTGTTAAAAGCGAAAATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAG TTCTCAGATCATCACTTCGGTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTAGATGTTAAACT GGTACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCAACTGCAAAAAAATGTAAAGATGAAATA AAAAAGATCCAAGATCTCCTCATGAGCTTTGGTATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAGGCAGTTATTTGGCAG AAAAGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAACAATATGGAATCCTTTCAGTACCACTCT GAAGAATCTCAGATTTATCTCAGTGGATTTCTTCCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTC ATCTTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAGTTAATCCGACATCATTACAATCTGAAATGCCTAAAGGAATCTACT CGTTTGTATCCTGTTTTCTTTCTGAAAATCGATGTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTA CAAAATAAGGAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTCTTATGAAAATAAT AAAACAGATGTTTCCGCAGCTGACATCGTTCTTAGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAAT TATTCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGAAAAAACACTGATGATTGTTTAAATCAC CAGATAAGTATTGGTGACTTTGGTTATGGTCATTGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATT TCAATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGTTCCGTTAAGCACACCCAGTCAGAAAAT GGCAATAAAGACCATATAGATGAGAGTGGGGAAAATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGC AGGGGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCTGAAAAAAGTTTACCATGTAAAGTAAGT AATAATAATTATCCAATCCCTGAACAAATGAATCTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAA GTTACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTTTTTGTTCAAGATCATCGTCCTCAGTTT CTCATAGAAAATCCTAAGACTAGTTTAGAGGATGCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAAA TATGAAGAGAAGGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAACAGGAGTCACAAATGTCACTAAAAGAT GGCAGAAAAAAGATAAAACCCACCAGCGCATGGAATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGAT GAACTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCCTTTTCTATGAAAAACTTAAAAATAAAT TTTAAGAAACAAAACAAAGTTGACTTAGAAGAGAAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACA TCCAAAACAGAGGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGACTTCTTGAGAATCATAAACTTCCTGCA GAGCCACTGGAAAAGCCAATTATGTTAACAGAGAGTCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGAC CAAAGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATAAAATTGATACCAGGAGTTTCAATTACT GAAAATTACTTGGAAATAGAAGGAATGGCTAATTGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAAC AGAAATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAGTCTAAGATTGATCGAGACAAGTCTTTTATACTT GAGGAACACATGGACAAAATAAACAGTTGTTTTTCAGCCAATACTGTGGAAGAAATTATTGAAAACTTACAGCAAGATGGTTCATCTTTT GCCCTAGAGCAATTGAAGGTAATTAATAAAATGTCTCCAACATCTCTAAAGATCACACTAAGGCAACTCATGGAGGGGTCTTCAAAGACC TTGCAAGAAGTACTAACTATGGAGTATCGGCTAAGTCAAGCTTGTATGAGAGGTCATGACTTTCATGAAGGCGTTAGAGCTGTTTTAATT GATAAAGACCAGAGTCCAAAATGGAAACCAGCTGATCTAAAAGAAGTTACTGAGGAAGATTTGAATAATCACTTTAAGTCTTTGGGAAGC AGTGATTTGAAATTTTGAGGTGACAGGCTTTTAAGGTATATTTTGTAGCATGGGTTGGCAATCTACAGCATGTGGGCCAAATCCAGCCTG |
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FusionGenePPI for PMS1_HIBCH |
| 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 |
| PMS1 | MLH1, BRCA2, PSD2, UBC, EXO1, RFC2, PMS1, RFC4, RFC1, POLR1C, ATR, NONO, PGK1, TOP1, MCM6, SMC3, REV3L, IPO5, IPO9, RANBP9, RANGAP1, MMS19, USP5, USP13, UBAP2L, HERC2, CUL3, CUL1, USP9Y, RNF20, HELB, MOV10, BRIP1, KPNA2, SBF2, SBF1, CCNT1, CDK9, PIK3C2A, CDC5L, AKAP9, PPP2R1A, UBR5, CYLD, PSMC1, RNF123, FAN1, MSH6, MSH2, PSMC3, NTRK1, DYNLT1, PTTG1, CEP170P1, HIST1H1D, SNX21, BBS7, PAG1, AHNAK, VAMP3, HRAS, GNG5, PYGB, MCM9 | HIBCH | H2AFX, ACOT1, IRF2BPL, ACADVL, KIAA0391, MKRN2, OXLD1, ACOT9, ALDH6A1, CAB39, CLIC1, CLIC4, CLIC5, ACADM, ALDH7A1, C12orf10, DSTN, ECI1, FH, NEDD8, PPA2, PSME3, SOD1, HNRNPH1, HNRNPH2, LSM12, NME2, NME1-NME2, PRCP, UFM1, UMPS, TMEM184A, GATC, GTF2E2, SOX2 |
| - 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 |
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RelatedDrugs for PMS1_HIBCH |
| 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 |
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RelatedDiseases for PMS1_HIBCH |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | HIBCH | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| Tgene | HIBCH | C0342738 | Beta-Hydroxyisobutyryl CoA Deacylase Deficiency | 1 | CTD_human;ORPHANET;UNIPROT |
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