| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_372677 | 3 | 37284914:37285113:37292885:37292975:37315026:37315092 | 37292885:37292975 | ENSG00000144674.12 | ENST00000450863.2,ENST00000356847.4,ENST00000429018.1 |
| exon_skip_372678 | 3 | 37284914:37285113:37292885:37292975:37323448:37323476 | 37292885:37292975 | ENSG00000144674.12 | ENST00000444882.1,ENST00000419177.3 |
| exon_skip_372681 | 3 | 37292885:37292975:37308332:37308431:37315026:37315092 | 37308332:37308431 | ENSG00000144674.12 | ENST00000431105.1 |
| exon_skip_372683 | 3 | 37292885:37292975:37315026:37315092:37323448:37323476 | 37315026:37315092 | ENSG00000144674.12 | ENST00000450863.2,ENST00000356847.4 |
| exon_skip_372688 | 3 | 37292885:37292975:37323448:37323763:37327504:37327552 | 37323448:37323763 | ENSG00000144674.12 | ENST00000361924.2 |
| exon_skip_372689 | 3 | 37292885:37292975:37323448:37323763:37330725:37330782 | 37323448:37323763 | ENSG00000144674.12 | ENST00000419177.3 |
| exon_skip_372695 | 3 | 37315026:37315092:37323448:37323763:37327504:37327552 | 37323448:37323763 | ENSG00000144674.12 | ENST00000356847.4 |
| exon_skip_372696 | 3 | 37315026:37315092:37323448:37323763:37330725:37330782 | 37323448:37323763 | ENSG00000144674.12 | ENST00000450863.2 |
| exon_skip_372698 | 3 | 37323673:37323763:37327504:37327552:37330725:37330782 | 37327504:37327552 | ENSG00000144674.12 | ENST00000361924.2,ENST00000437131.1,ENST00000356847.4 |
| exon_skip_372701 | 3 | 37323673:37323763:37330725:37330782:37336469:37336568 | 37330725:37330782 | ENSG00000144674.12 | ENST00000419177.3 |
| exon_skip_372703 | 3 | 37327504:37327552:37329017:37329103:37330725:37330782 | 37329017:37329103 | ENSG00000144674.12 | ENST00000435830.2 |
| exon_skip_372705 | 3 | 37327504:37327552:37330725:37330782:37336469:37336568 | 37330725:37330782 | ENSG00000144674.12 | ENST00000361924.2,ENST00000437131.1,ENST00000356847.4 |
| exon_skip_372706 | 3 | 37340323:37340511:37340778:37340862:37343675:37343823 | 37340778:37340862 | ENSG00000144674.12 | ENST00000435830.2,ENST00000361924.2,ENST00000437131.1,ENST00000450863.2,ENST00000356847.4 |
| exon_skip_372707 | 3 | 37343691:37343823:37354912:37355010:37356910:37356997 | 37354912:37355010 | ENSG00000144674.12 | ENST00000435830.2 |
| exon_skip_372718 | 3 | 37363221:37363377:37365078:37369316:37369906:37370028 | 37365078:37369316 | ENSG00000144674.12 | ENST00000361924.2,ENST00000437131.1,ENST00000356847.4 |
| exon_skip_372724 | 3 | 37369906:37370028:37370453:37370584:37376543:37376657 | 37370453:37370584 | ENSG00000144674.12 | ENST00000361924.2,ENST00000437131.1,ENST00000356847.4 |
| exon_skip_372728 | 3 | 37376543:37376657:37378633:37378654:37379156:37379225 | 37378633:37378654 | ENSG00000144674.12 | ENST00000361924.2,ENST00000437131.1 |
| exon_skip_372733 | 3 | 37376543:37376657:37379156:37379225:37381614:37381690 | 37379156:37379225 | ENSG00000144674.12 | ENST00000356847.4 |
| exon_skip_372737 | 3 | 37378633:37378654:37379156:37379225:37381614:37381690 | 37379156:37379225 | ENSG00000144674.12 | ENST00000361924.2,ENST00000437131.1 |
| exon_skip_372741 | 3 | 37381614:37381690:37388683:37388787:37396591:37396678 | 37388683:37388787 | ENSG00000144674.12 | ENST00000361924.2,ENST00000437131.1,ENST00000356847.4 |
| exon_skip_372742 | 3 | 37396591:37396678:37402733:37402796:37407570:37408236 | 37402733:37402796 | ENSG00000144674.12 | ENST00000361924.2 |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_372677 | 3 | 37284914:37285113:37292885:37292975:37315026:37315092 | 37292885:37292975 | ENSG00000144674.12 | ENST00000356847.4,ENST00000450863.2,ENST00000429018.1 |
| exon_skip_372678 | 3 | 37284914:37285113:37292885:37292975:37323448:37323476 | 37292885:37292975 | ENSG00000144674.12 | ENST00000444882.1,ENST00000419177.3 |
| exon_skip_372681 | 3 | 37292885:37292975:37308332:37308431:37315026:37315092 | 37308332:37308431 | ENSG00000144674.12 | ENST00000431105.1 |
| exon_skip_372683 | 3 | 37292885:37292975:37315026:37315092:37323448:37323476 | 37315026:37315092 | ENSG00000144674.12 | ENST00000356847.4,ENST00000450863.2 |
| exon_skip_372688 | 3 | 37292885:37292975:37323448:37323763:37327504:37327552 | 37323448:37323763 | ENSG00000144674.12 | ENST00000361924.2 |
| exon_skip_372689 | 3 | 37292885:37292975:37323448:37323763:37330725:37330782 | 37323448:37323763 | ENSG00000144674.12 | ENST00000419177.3 |
| exon_skip_372695 | 3 | 37315026:37315092:37323448:37323763:37327504:37327552 | 37323448:37323763 | ENSG00000144674.12 | ENST00000356847.4 |
| exon_skip_372696 | 3 | 37315026:37315092:37323448:37323763:37330725:37330782 | 37323448:37323763 | ENSG00000144674.12 | ENST00000450863.2 |
| exon_skip_372698 | 3 | 37323673:37323763:37327504:37327552:37330725:37330782 | 37327504:37327552 | ENSG00000144674.12 | ENST00000361924.2,ENST00000356847.4,ENST00000437131.1 |
| exon_skip_372701 | 3 | 37323673:37323763:37330725:37330782:37336469:37336568 | 37330725:37330782 | ENSG00000144674.12 | ENST00000419177.3 |
| exon_skip_372703 | 3 | 37327504:37327552:37329017:37329103:37330725:37330782 | 37329017:37329103 | ENSG00000144674.12 | ENST00000435830.2 |
| exon_skip_372705 | 3 | 37327504:37327552:37330725:37330782:37336469:37336568 | 37330725:37330782 | ENSG00000144674.12 | ENST00000361924.2,ENST00000356847.4,ENST00000437131.1 |
| exon_skip_372706 | 3 | 37340323:37340511:37340778:37340862:37343675:37343823 | 37340778:37340862 | ENSG00000144674.12 | ENST00000361924.2,ENST00000435830.2,ENST00000356847.4,ENST00000450863.2,ENST00000437131.1 |
| exon_skip_372707 | 3 | 37343691:37343823:37354912:37355010:37356910:37356997 | 37354912:37355010 | ENSG00000144674.12 | ENST00000435830.2 |
| exon_skip_372718 | 3 | 37363221:37363377:37365078:37369316:37369906:37370028 | 37365078:37369316 | ENSG00000144674.12 | ENST00000361924.2,ENST00000356847.4,ENST00000437131.1 |
| exon_skip_372724 | 3 | 37369906:37370028:37370453:37370584:37376543:37376657 | 37370453:37370584 | ENSG00000144674.12 | ENST00000361924.2,ENST00000356847.4,ENST00000437131.1 |
| exon_skip_372728 | 3 | 37376543:37376657:37378633:37378654:37379156:37379225 | 37378633:37378654 | ENSG00000144674.12 | ENST00000361924.2,ENST00000437131.1 |
| exon_skip_372733 | 3 | 37376543:37376657:37379156:37379225:37381614:37381690 | 37379156:37379225 | ENSG00000144674.12 | ENST00000356847.4 |
| exon_skip_372737 | 3 | 37378633:37378654:37379156:37379225:37381614:37381690 | 37379156:37379225 | ENSG00000144674.12 | ENST00000361924.2,ENST00000437131.1 |
| exon_skip_372741 | 3 | 37381614:37381690:37388683:37388787:37396591:37396678 | 37388683:37388787 | ENSG00000144674.12 | ENST00000361924.2,ENST00000356847.4,ENST00000437131.1 |
| exon_skip_372742 | 3 | 37396591:37396678:37402733:37402796:37407570:37408236 | 37402733:37402796 | ENSG00000144674.12 | ENST00000361924.2 |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q13439 | 54 | 159 | 54 | 54 | Alternative sequence | ID=VSP_044819;Note=In isoform 5. E->ENASTHASKSPDSVNGSEPSIPQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| Q13439 | 54 | 159 | 1 | 2230 | Chain | ID=PRO_0000190059;Note=Golgin subfamily A member 4 |
| Q13439 | 54 | 159 | 133 | 2185 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13439 | 54 | 159 | 71 | 71 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID |
| Q13439 | 54 | 159 | 78 | 78 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 |
| Q13439 | 54 | 159 | 89 | 89 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q13439 | 54 | 159 | 133 | 203 | Region | Note=Interaction with MACF1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15265687;Dbxref=PMID:15265687 |
| Q13439 | 159 | 175 | 1 | 2230 | Chain | ID=PRO_0000190059;Note=Golgin subfamily A member 4 |
| Q13439 | 159 | 175 | 133 | 2185 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13439 | 159 | 175 | 133 | 203 | Region | Note=Interaction with MACF1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15265687;Dbxref=PMID:15265687 |
| Q13439 | 175 | 194 | 1 | 2230 | Chain | ID=PRO_0000190059;Note=Golgin subfamily A member 4 |
| Q13439 | 175 | 194 | 133 | 2185 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13439 | 175 | 194 | 133 | 203 | Region | Note=Interaction with MACF1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15265687;Dbxref=PMID:15265687 |
| Q13439 | 175 | 194 | 188 | 188 | Sequence conflict | Note=R->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13439 | 334 | 362 | 1 | 2230 | Chain | ID=PRO_0000190059;Note=Golgin subfamily A member 4 |
| Q13439 | 334 | 362 | 133 | 2185 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13439 | 334 | 362 | 252 | 2096 | Compositional bias | Note=Glu-rich |
| Q13439 | 2109 | 2132 | 2103 | 2109 | Alternative sequence | ID=VSP_004274;Note=In isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| Q13439 | 2109 | 2132 | 1 | 2230 | Chain | ID=PRO_0000190059;Note=Golgin subfamily A member 4 |
| Q13439 | 2109 | 2132 | 133 | 2185 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q13439 | 54 | 159 | 54 | 54 | Alternative sequence | ID=VSP_044819;Note=In isoform 5. E->ENASTHASKSPDSVNGSEPSIPQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| Q13439 | 54 | 159 | 1 | 2230 | Chain | ID=PRO_0000190059;Note=Golgin subfamily A member 4 |
| Q13439 | 54 | 159 | 133 | 2185 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13439 | 54 | 159 | 71 | 71 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID |
| Q13439 | 54 | 159 | 78 | 78 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 |
| Q13439 | 54 | 159 | 89 | 89 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q13439 | 54 | 159 | 133 | 203 | Region | Note=Interaction with MACF1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15265687;Dbxref=PMID:15265687 |
| Q13439 | 159 | 175 | 1 | 2230 | Chain | ID=PRO_0000190059;Note=Golgin subfamily A member 4 |
| Q13439 | 159 | 175 | 133 | 2185 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13439 | 159 | 175 | 133 | 203 | Region | Note=Interaction with MACF1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15265687;Dbxref=PMID:15265687 |
| Q13439 | 175 | 194 | 1 | 2230 | Chain | ID=PRO_0000190059;Note=Golgin subfamily A member 4 |
| Q13439 | 175 | 194 | 133 | 2185 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13439 | 175 | 194 | 133 | 203 | Region | Note=Interaction with MACF1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15265687;Dbxref=PMID:15265687 |
| Q13439 | 175 | 194 | 188 | 188 | Sequence conflict | Note=R->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13439 | 334 | 362 | 1 | 2230 | Chain | ID=PRO_0000190059;Note=Golgin subfamily A member 4 |
| Q13439 | 334 | 362 | 133 | 2185 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13439 | 334 | 362 | 252 | 2096 | Compositional bias | Note=Glu-rich |
| Q13439 | 2109 | 2132 | 2103 | 2109 | Alternative sequence | ID=VSP_004274;Note=In isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| Q13439 | 2109 | 2132 | 1 | 2230 | Chain | ID=PRO_0000190059;Note=Golgin subfamily A member 4 |
| Q13439 | 2109 | 2132 | 133 | 2185 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| 22RV1_PROSTATE | 37365079 | 37369316 | 37365107 | 37365107 | Frame_Shift_Del | A | - | p.E577fs |
| EN_ENDOMETRIUM | 37365079 | 37369316 | 37365782 | 37365782 | Frame_Shift_Del | T | - | p.V802fs |
| SNUC2A_LARGE_INTESTINE | 37365079 | 37369316 | 37367468 | 37367468 | Frame_Shift_Del | A | - | p.E1364fs |
| SNUC2B_LARGE_INTESTINE | 37365079 | 37369316 | 37367468 | 37367468 | Frame_Shift_Del | A | - | p.E1364fs |
| ANGMCSS_CENTRAL_NERVOUS_SYSTEM | 37365079 | 37369316 | 37367508 | 37367509 | Frame_Shift_Del | TG | - | p.D1378fs |
| SISO_CERVIX | 37365079 | 37369316 | 37368096 | 37368096 | Frame_Shift_Del | A | - | p.G1573fs |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37368096 | 37368096 | Frame_Shift_Del | A | - | p.G1573fs |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37368314 | 37368314 | Frame_Shift_Del | A | - | p.Q1646fs |
| LNCAPCLONEFGC_PROSTATE | 37365079 | 37369316 | 37368314 | 37368314 | Frame_Shift_Del | A | - | p.Q1646fs |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37368513 | 37368513 | Frame_Shift_Del | A | - | p.A1712fs |
| U698M_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37369094 | 37369094 | Frame_Shift_Del | A | - | p.E1906fs |
| SKUT1_SOFT_TISSUE | 37370454 | 37370584 | 37370519 | 37370519 | Frame_Shift_Del | A | - | p.K2044fs |
| CW2_LARGE_INTESTINE | 37365079 | 37369316 | 37365106 | 37365107 | Frame_Shift_Ins | - | A | p.E577fs |
| KU812_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37367467 | 37367468 | Frame_Shift_Ins | - | A | p.E1364fs |
| MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37367467 | 37367468 | Frame_Shift_Ins | - | A | p.E1364fs |
| SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37368313 | 37368314 | Frame_Shift_Ins | - | A | p.Q1646fs |
| BT549_BREAST | 37365079 | 37369316 | 37368784 | 37368785 | Frame_Shift_Ins | - | A | p.E1803fs |
| JMSU1_URINARY_TRACT | 37365079 | 37369316 | 37368784 | 37368785 | Frame_Shift_Ins | - | A | p.E1803fs |
| T173_FIBROBLAST | 37365079 | 37369316 | 37368784 | 37368785 | Frame_Shift_Ins | - | A | p.E1803fs |
| A673_BONE | 37365079 | 37369316 | 37365124 | 37365126 | In_Frame_Del | AAC | - | p.N583del |
| NCIH460_LUNG | 37365079 | 37369316 | 37366924 | 37366926 | In_Frame_Del | GAA | - | p.E1184del |
| HCT15_LARGE_INTESTINE | 37292886 | 37292975 | 37292932 | 37292932 | Missense_Mutation | C | A | p.S40Y |
| HT115_LARGE_INTESTINE | 37323449 | 37323763 | 37323516 | 37323516 | Missense_Mutation | G | A | p.R77Q |
| K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37323449 | 37323763 | 37323579 | 37323579 | Missense_Mutation | C | A | p.S98Y |
| TGBC11TKB_STOMACH | 37327505 | 37327552 | 37327511 | 37327511 | Missense_Mutation | A | C | p.T162P |
| PC14_LUNG | 37330726 | 37330782 | 37330754 | 37330754 | Missense_Mutation | C | T | p.S185L |
| HCC2998_LARGE_INTESTINE | 37365079 | 37369316 | 37365081 | 37365081 | Missense_Mutation | A | C | p.R568S |
| MEWO_SKIN | 37365079 | 37369316 | 37365101 | 37365101 | Missense_Mutation | C | T | p.S575F |
| SW1463_LARGE_INTESTINE | 37365079 | 37369316 | 37365193 | 37365193 | Missense_Mutation | A | C | p.T606P |
| LB2241RCC_KIDNEY | 37365079 | 37369316 | 37365275 | 37365275 | Missense_Mutation | T | C | p.V633A |
| BONNA12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37365405 | 37365405 | Missense_Mutation | A | C | p.L676F |
| HEC108_ENDOMETRIUM | 37365079 | 37369316 | 37365419 | 37365419 | Missense_Mutation | T | C | p.V681A |
| LB2518MEL_SKIN | 37365079 | 37369316 | 37365492 | 37365493 | Missense_Mutation | GG | AA | p.E706K |
| KYSE510_OESOPHAGUS | 37365079 | 37369316 | 37365561 | 37365561 | Missense_Mutation | G | C | p.Q728H |
| LI7_LIVER | 37365079 | 37369316 | 37365569 | 37365569 | Missense_Mutation | A | T | p.H731L |
| MERO95_LUNG | 37365079 | 37369316 | 37365767 | 37365767 | Missense_Mutation | C | T | p.S797F |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37365769 | 37365769 | Missense_Mutation | G | A | p.A798T |
| HT144_SKIN | 37365079 | 37369316 | 37365781 | 37365781 | Missense_Mutation | G | A | p.V802I |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37366113 | 37366113 | Missense_Mutation | G | A | p.M912I |
| A427_LUNG | 37365079 | 37369316 | 37366202 | 37366202 | Missense_Mutation | A | T | p.N942I |
| SNU175_LARGE_INTESTINE | 37365079 | 37369316 | 37366358 | 37366358 | Missense_Mutation | A | G | p.Q994R |
| UPCISCC152_UPPER_AERODIGESTIVE_TRACT | 37365079 | 37369316 | 37366382 | 37366382 | Missense_Mutation | A | G | p.K1002R |
| SCC90_UPPER_AERODIGESTIVE_TRACT | 37365079 | 37369316 | 37366382 | 37366382 | Missense_Mutation | A | G | p.K1002R |
| NCIH1568_LUNG | 37365079 | 37369316 | 37366395 | 37366395 | Missense_Mutation | G | A | p.M1006I |
| MDAMB330_BREAST | 37365079 | 37369316 | 37366430 | 37366430 | Missense_Mutation | T | C | p.V1018A |
| NCIH2052_PLEURA | 37365079 | 37369316 | 37366490 | 37366490 | Missense_Mutation | G | A | p.R1038Q |
| NCIBL2052_MATCHED_NORMAL_TISSUE | 37365079 | 37369316 | 37366490 | 37366490 | Missense_Mutation | G | A | p.R1038Q |
| HCC2998_LARGE_INTESTINE | 37365079 | 37369316 | 37366566 | 37366566 | Missense_Mutation | A | C | p.E1063D |
| J82_URINARY_TRACT | 37365079 | 37369316 | 37366597 | 37366597 | Missense_Mutation | G | A | p.A1074T |
| EWS834_BONE | 37365079 | 37369316 | 37366631 | 37366631 | Missense_Mutation | G | C | p.C1085S |
| ES5_BONE | 37365079 | 37369316 | 37366678 | 37366678 | Missense_Mutation | G | C | p.G1101R |
| SNU81_LARGE_INTESTINE | 37365079 | 37369316 | 37366819 | 37366819 | Missense_Mutation | A | C | p.K1148Q |
| TTC709_SOFT_TISSUE | 37365079 | 37369316 | 37366873 | 37366873 | Missense_Mutation | G | A | p.E1166K |
| STM9101_SOFT_TISSUE | 37365079 | 37369316 | 37366873 | 37366873 | Missense_Mutation | G | A | p.E1166K |
| HCC1438_LUNG | 37365079 | 37369316 | 37367003 | 37367003 | Missense_Mutation | T | C | p.L1209P |
| HEC151_ENDOMETRIUM | 37365079 | 37369316 | 37367035 | 37367035 | Missense_Mutation | T | C | p.C1220R |
| WM115_SKIN | 37365079 | 37369316 | 37367079 | 37367079 | Missense_Mutation | G | T | p.E1234D |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37367104 | 37367104 | Missense_Mutation | A | G | p.T1243A |
| AM38_CENTRAL_NERVOUS_SYSTEM | 37365079 | 37369316 | 37367149 | 37367149 | Missense_Mutation | A | T | p.T1258S |
| MM383_SKIN | 37365079 | 37369316 | 37367224 | 37367224 | Missense_Mutation | G | A | p.E1283K |
| C4I_CERVIX | 37365079 | 37369316 | 37367224 | 37367224 | Missense_Mutation | G | C | p.E1283Q |
| HS863T_FIBROBLAST | 37365079 | 37369316 | 37367225 | 37367225 | Missense_Mutation | A | C | p.E1283A |
| TGBC11TKB_STOMACH | 37365079 | 37369316 | 37367243 | 37367243 | Missense_Mutation | A | G | p.N1289S |
| A172_CENTRAL_NERVOUS_SYSTEM | 37365079 | 37369316 | 37367298 | 37367298 | Missense_Mutation | G | C | p.K1307N |
| EHEB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37367635 | 37367635 | Missense_Mutation | A | G | p.K1420E |
| NH12_AUTONOMIC_GANGLIA | 37365079 | 37369316 | 37367650 | 37367650 | Missense_Mutation | A | C | p.S1425R |
| K2_SKIN | 37365079 | 37369316 | 37367948 | 37367948 | Missense_Mutation | C | T | p.T1524I |
| EN_ENDOMETRIUM | 37365079 | 37369316 | 37367966 | 37367966 | Missense_Mutation | T | C | p.L1530S |
| SNU81_LARGE_INTESTINE | 37365079 | 37369316 | 37367985 | 37367985 | Missense_Mutation | G | T | p.Q1536H |
| HLFA_FIBROBLAST | 37365079 | 37369316 | 37367987 | 37367987 | Missense_Mutation | A | G | p.K1537R |
| HCC2998_LARGE_INTESTINE | 37365079 | 37369316 | 37367987 | 37367987 | Missense_Mutation | A | G | p.K1537R |
| KE97_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37368000 | 37368000 | Missense_Mutation | A | G | p.I1541M |
| C4I_CERVIX | 37365079 | 37369316 | 37368001 | 37368001 | Missense_Mutation | G | C | p.E1542Q |
| DV90_LUNG | 37365079 | 37369316 | 37368106 | 37368106 | Missense_Mutation | G | A | p.D1577N |
| COLO824_BREAST | 37365079 | 37369316 | 37368209 | 37368209 | Missense_Mutation | T | G | p.V1611G |
| HCC2998_LARGE_INTESTINE | 37365079 | 37369316 | 37368223 | 37368223 | Missense_Mutation | A | G | p.K1616E |
| MFE319_ENDOMETRIUM | 37365079 | 37369316 | 37368248 | 37368248 | Missense_Mutation | C | T | p.A1624V |
| NCIH2228_LUNG | 37365079 | 37369316 | 37368256 | 37368256 | Missense_Mutation | G | A | p.D1627N |
| JHH5_LIVER | 37365079 | 37369316 | 37368475 | 37368475 | Missense_Mutation | A | G | p.S1700G |
| GA10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37368541 | 37368541 | Missense_Mutation | G | C | p.E1722Q |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37368547 | 37368547 | Missense_Mutation | G | A | p.A1724T |
| HCC2998_LARGE_INTESTINE | 37365079 | 37369316 | 37368605 | 37368605 | Missense_Mutation | G | T | p.R1743I |
| HCC2998_LARGE_INTESTINE | 37365079 | 37369316 | 37368795 | 37368795 | Missense_Mutation | G | T | p.K1806N |
| MCC13_SKIN | 37365079 | 37369316 | 37368803 | 37368803 | Missense_Mutation | C | T | p.S1809F |
| SNU81_LARGE_INTESTINE | 37365079 | 37369316 | 37368886 | 37368886 | Missense_Mutation | G | A | p.D1837N |
| OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37368944 | 37368944 | Missense_Mutation | T | C | p.I1856T |
| HUTU80_SMALL_INTESTINE | 37365079 | 37369316 | 37369132 | 37369132 | Missense_Mutation | A | G | p.S1919G |
| HCC1171_LUNG | 37365079 | 37369316 | 37369139 | 37369139 | Missense_Mutation | T | C | p.M1921T |
| RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37369177 | 37369177 | Missense_Mutation | G | A | p.G1934R |
| MCC142_SKIN | 37365079 | 37369316 | 37369252 | 37369252 | Missense_Mutation | G | C | p.E1959Q |
| COLO679_SKIN | 37370454 | 37370584 | 37370496 | 37370496 | Missense_Mutation | A | C | p.Q2035P |
| HEC251_ENDOMETRIUM | 37370454 | 37370584 | 37370541 | 37370541 | Missense_Mutation | A | C | p.D2050A |
| EW24_BONE | 37370454 | 37370584 | 37370552 | 37370552 | Missense_Mutation | C | G | p.R2054G |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37370454 | 37370584 | 37370579 | 37370579 | Missense_Mutation | C | T | p.L2063F |
| NCIH2029_LUNG | 37388684 | 37388787 | 37388716 | 37388716 | Missense_Mutation | T | A | p.F2169I |
| SNU1040_LARGE_INTESTINE | 37388684 | 37388787 | 37388755 | 37388755 | Missense_Mutation | C | T | p.L2182F |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37388684 | 37388787 | 37388767 | 37388767 | Missense_Mutation | A | G | p.M2186V |
| COV318_OVARY | 37323449 | 37323763 | 37323569 | 37323569 | Nonsense_Mutation | C | T | p.R95* |
| HCT15_LARGE_INTESTINE | 37340779 | 37340862 | 37340845 | 37340845 | Nonsense_Mutation | C | T | p.Q357* |
| NCIH1703_LUNG | 37365079 | 37369316 | 37365796 | 37365796 | Nonsense_Mutation | C | T | p.Q807* |
| PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37365079 | 37369316 | 37367389 | 37367389 | Nonsense_Mutation | G | T | p.E1338* |
| HEC251_ENDOMETRIUM | 37365079 | 37369316 | 37367455 | 37367455 | Nonsense_Mutation | G | T | p.E1360* |
| SNU81_LARGE_INTESTINE | 37365079 | 37369316 | 37367761 | 37367761 | Nonsense_Mutation | G | T | p.E1462* |
| JHUEM7_ENDOMETRIUM | 37365079 | 37369316 | 37368058 | 37368058 | Nonsense_Mutation | G | T | p.E1561* |
| HT115_LARGE_INTESTINE | 37365079 | 37369316 | 37368196 | 37368196 | Nonsense_Mutation | G | T | p.E1607* |
| SKUT1_SOFT_TISSUE | 37370454 | 37370584 | 37370552 | 37370552 | Nonsense_Mutation | C | T | p.R2054* |
| NK92MI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 37292886 | 37292975 | 37292887 | 37292887 | Splice_Site | C | T | p.A25V |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_372718 | 3 | 37363221:37363377:37365078:37369316:37369906:37370028 | 37365078:37369316 | ENST00000361924.2,ENST00000437131.1,ENST00000356847.4 | LGG | rs62241896 | chr3:37368755 | T/A | 4.60e-04
|
| exon_skip_372718 | 3 | 37363221:37363377:37365078:37369316:37369906:37370028 | 37365078:37369316 | ENST00000361924.2,ENST00000437131.1,ENST00000356847.4 | LGG | rs11718848 | chr3:37366459 | C/A | 5.71e-04
|
| exon_skip_372718 | 3 | 37363221:37363377:37365078:37369316:37369906:37370028 | 37365078:37369316 | ENST00000361924.2,ENST00000437131.1,ENST00000356847.4 | PAAD | rs11718848 | chr3:37366459 | C/A | 2.23e-07
|
| exon_skip_372718 | 3 | 37363221:37363377:37365078:37369316:37369906:37370028 | 37365078:37369316 | ENST00000361924.2,ENST00000437131.1,ENST00000356847.4 | PAAD | rs62241896 | chr3:37368755 | T/A | 2.23e-07
|
| exon_skip_372718 | 3 | 37363221:37363377:37365078:37369316:37369906:37370028 | 37365078:37369316 | ENST00000361924.2,ENST00000437131.1,ENST00000356847.4 | SKCM | rs11718848 | chr3:37366459 | C/A | 4.69e-05
|
| exon_skip_372718 | 3 | 37363221:37363377:37365078:37369316:37369906:37370028 | 37365078:37369316 | ENST00000361924.2,ENST00000437131.1,ENST00000356847.4 | SKCM | rs62241896 | chr3:37368755 | T/A | 4.69e-05
|