| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_17865 | 1 | 213224603:213224851:213244347:213244383:213251037:213251158 | 213244347:213244383 | ENSG00000136643.7 | ENST00000366960.3 |
| exon_skip_17867 | 1 | 213224603:213224851:213251037:213251158:213277795:213277911 | 213251037:213251158 | ENSG00000136643.7 | ENST00000366959.3,ENST00000543354.1 |
| exon_skip_17868 | 1 | 213244347:213244383:213246211:213246328:213251037:213251158 | 213246211:213246328 | ENSG00000136643.7 | ENST00000543470.1 |
| exon_skip_17869 | 1 | 213244347:213244383:213251037:213251158:213277795:213277911 | 213251037:213251158 | ENSG00000136643.7 | ENST00000366960.3 |
| exon_skip_17873 | 1 | 213251037:213251158:213277795:213277911:213290658:213290752 | 213277795:213277911 | ENSG00000136643.7 | ENST00000543470.1,ENST00000366959.3,ENST00000366960.3 |
| exon_skip_17874 | 1 | 213251037:213251158:213277795:213277911:213302869:213303232 | 213277795:213277911 | ENSG00000136643.7 | ENST00000490299.1 |
| exon_skip_17877 | 1 | 213277795:213277911:213290658:213290752:213302869:213303232 | 213290658:213290752 | ENSG00000136643.7 | ENST00000543470.1,ENST00000366959.3,ENST00000366960.3 |
| exon_skip_17882 | 1 | 213277795:213277911:213302869:213303232:213341200:213341316 | 213302869:213303232 | ENSG00000136643.7 | ENST00000490299.1 |
| exon_skip_17886 | 1 | 213290658:213290752:213302869:213303232:213341200:213341316 | 213302869:213303232 | ENSG00000136643.7 | ENST00000543470.1,ENST00000366959.3,ENST00000366960.3 |
| exon_skip_17889 | 1 | 213302869:213303232:213341200:213341316:213403839:213403887 | 213341200:213341316 | ENSG00000136643.7 | ENST00000543470.1 |
| exon_skip_17892 | 1 | 213341200:213341316:213349742:213349835:213403839:213403887 | 213349742:213349835 | ENSG00000136643.7 | ENST00000366959.3,ENST00000543354.1,ENST00000366960.3,ENST00000490299.1 |
| exon_skip_17895 | 1 | 213341200:213341316:213403839:213403887:213405465:213405598 | 213403839:213403887 | ENSG00000136643.7 | ENST00000543470.1 |
| exon_skip_17900 | 1 | 213349742:213349835:213403839:213403887:213405465:213405598 | 213403839:213403887 | ENSG00000136643.7 | ENST00000366959.3,ENST00000543354.1,ENST00000366960.3,ENST00000490299.1 |
| exon_skip_17906 | 1 | 213403839:213403887:213405465:213405598:213414044:213415640 | 213405465:213405598 | ENSG00000136643.7 | ENST00000543470.1,ENST00000366959.3,ENST00000543354.1,ENST00000366960.3,ENST00000490299.1 |
| exon_skip_17908 | 1 | 213405465:213405598:213414044:213416001:213434900:213434983 | 213414044:213416001 | ENSG00000136643.7 | ENST00000543354.1 |
| exon_skip_17909 | 1 | 213414044:213415640:213415911:213416001:213434900:213434983 | 213415911:213416001 | ENSG00000136643.7 | ENST00000543470.1,ENST00000366959.3,ENST00000366960.3,ENST00000490299.1 |
| exon_skip_17911 | 1 | 213434900:213434983:213436063:213436159:213445866:213445887 | 213436063:213436159 | ENSG00000136643.7 | ENST00000543470.1,ENST00000366959.3,ENST00000543354.1,ENST00000366960.3,ENST00000490299.1 |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_17865 | 1 | 213224603:213224851:213244347:213244383:213251037:213251158 | 213244347:213244383 | ENSG00000136643.7 | ENST00000366960.3 |
| exon_skip_17867 | 1 | 213224603:213224851:213251037:213251158:213277795:213277911 | 213251037:213251158 | ENSG00000136643.7 | ENST00000366959.3,ENST00000543354.1 |
| exon_skip_17868 | 1 | 213244347:213244383:213246211:213246328:213251037:213251158 | 213246211:213246328 | ENSG00000136643.7 | ENST00000543470.1 |
| exon_skip_17869 | 1 | 213244347:213244383:213251037:213251158:213277795:213277911 | 213251037:213251158 | ENSG00000136643.7 | ENST00000366960.3 |
| exon_skip_17873 | 1 | 213251037:213251158:213277795:213277911:213290658:213290752 | 213277795:213277911 | ENSG00000136643.7 | ENST00000543470.1,ENST00000366960.3,ENST00000366959.3 |
| exon_skip_17874 | 1 | 213251037:213251158:213277795:213277911:213302869:213303232 | 213277795:213277911 | ENSG00000136643.7 | ENST00000490299.1 |
| exon_skip_17877 | 1 | 213277795:213277911:213290658:213290752:213302869:213303232 | 213290658:213290752 | ENSG00000136643.7 | ENST00000543470.1,ENST00000366960.3,ENST00000366959.3 |
| exon_skip_17882 | 1 | 213277795:213277911:213302869:213303232:213341200:213341316 | 213302869:213303232 | ENSG00000136643.7 | ENST00000490299.1 |
| exon_skip_17886 | 1 | 213290658:213290752:213302869:213303232:213341200:213341316 | 213302869:213303232 | ENSG00000136643.7 | ENST00000543470.1,ENST00000366960.3,ENST00000366959.3 |
| exon_skip_17889 | 1 | 213302869:213303232:213341200:213341316:213403839:213403887 | 213341200:213341316 | ENSG00000136643.7 | ENST00000543470.1 |
| exon_skip_17892 | 1 | 213341200:213341316:213349742:213349835:213403839:213403887 | 213349742:213349835 | ENSG00000136643.7 | ENST00000366960.3,ENST00000366959.3,ENST00000543354.1,ENST00000490299.1 |
| exon_skip_17895 | 1 | 213341200:213341316:213403839:213403887:213405465:213405598 | 213403839:213403887 | ENSG00000136643.7 | ENST00000543470.1 |
| exon_skip_17900 | 1 | 213349742:213349835:213403839:213403887:213405465:213405598 | 213403839:213403887 | ENSG00000136643.7 | ENST00000366960.3,ENST00000366959.3,ENST00000543354.1,ENST00000490299.1 |
| exon_skip_17906 | 1 | 213403839:213403887:213405465:213405598:213414044:213415640 | 213405465:213405598 | ENSG00000136643.7 | ENST00000543470.1,ENST00000366960.3,ENST00000366959.3,ENST00000543354.1,ENST00000490299.1 |
| exon_skip_17908 | 1 | 213405465:213405598:213414044:213416001:213434900:213434983 | 213414044:213416001 | ENSG00000136643.7 | ENST00000543354.1 |
| exon_skip_17909 | 1 | 213414044:213415640:213415911:213416001:213434900:213434983 | 213415911:213416001 | ENSG00000136643.7 | ENST00000543470.1,ENST00000366960.3,ENST00000366959.3,ENST00000490299.1 |
| exon_skip_17911 | 1 | 213434900:213434983:213436063:213436159:213445866:213445887 | 213436063:213436159 | ENSG00000136643.7 | ENST00000543470.1,ENST00000366960.3,ENST00000366959.3,ENST00000543354.1,ENST00000490299.1 |
| 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 |
| Q96S38 | 35 | 47 | 36 | 47 | Alternative sequence | ID=VSP_046333;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96S38 | 35 | 47 | 1 | 1066 | Chain | ID=PRO_0000233127;Note=Ribosomal protein S6 kinase delta-1 |
| Q96S38 | 35 | 47 | 8 | 132 | Domain | Note=PX;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00147 |
| Q96S38 | 35 | 47 | 42 | 42 | Natural variant | ID=VAR_040647;Note=P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56087470,PMID:17344846 |
| Q96S38 | 35 | 47 | 35 | 35 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96S38 | 157 | 278 | 1 | 1066 | Chain | ID=PRO_0000233127;Note=Ribosomal protein S6 kinase delta-1 |
| Q96S38 | 157 | 278 | 277 | 305 | Domain | Note=MIT |
| Q96S38 | 157 | 278 | 250 | 250 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96S38 | 317 | 348 | 1 | 1066 | Chain | ID=PRO_0000233127;Note=Ribosomal protein S6 kinase delta-1 |
| Q96S38 | 317 | 348 | 344 | 445 | Domain | Note=Protein kinase 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q96S38 | 317 | 348 | 319 | 319 | Natural variant | ID=VAR_040649;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56369827,PMID:17344846 |
| Q96S38 | 348 | 364 | 1 | 1066 | Chain | ID=PRO_0000233127;Note=Ribosomal protein S6 kinase delta-1 |
| Q96S38 | 348 | 364 | 344 | 445 | Domain | Note=Protein kinase 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q96S38 | 940 | 970 | 1 | 1066 | Chain | ID=PRO_0000233127;Note=Ribosomal protein S6 kinase delta-1 |
| Q96S38 | 940 | 970 | 794 | 1056 | Domain | Note=Protein kinase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q96S38 | 998 | 1030 | 1 | 1066 | Chain | ID=PRO_0000233127;Note=Ribosomal protein S6 kinase delta-1 |
| Q96S38 | 998 | 1030 | 794 | 1056 | Domain | Note=Protein kinase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q96S38 | 998 | 1030 | 1003 | 1003 | Natural variant | ID=VAR_040656;Note=In a lung adenocarcinoma sample%3B somatic mutation. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846 |
| Q96S38 | 998 | 1030 | 1022 | 1022 | Natural variant | ID=VAR_040657;Note=In a breast infiltrating ductal carcinoma sample%3B somatic mutation. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846 |
| 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 |
| Q96S38 | 35 | 47 | 36 | 47 | Alternative sequence | ID=VSP_046333;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96S38 | 35 | 47 | 1 | 1066 | Chain | ID=PRO_0000233127;Note=Ribosomal protein S6 kinase delta-1 |
| Q96S38 | 35 | 47 | 8 | 132 | Domain | Note=PX;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00147 |
| Q96S38 | 35 | 47 | 42 | 42 | Natural variant | ID=VAR_040647;Note=P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56087470,PMID:17344846 |
| Q96S38 | 35 | 47 | 35 | 35 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96S38 | 157 | 278 | 1 | 1066 | Chain | ID=PRO_0000233127;Note=Ribosomal protein S6 kinase delta-1 |
| Q96S38 | 157 | 278 | 277 | 305 | Domain | Note=MIT |
| Q96S38 | 157 | 278 | 250 | 250 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96S38 | 317 | 348 | 1 | 1066 | Chain | ID=PRO_0000233127;Note=Ribosomal protein S6 kinase delta-1 |
| Q96S38 | 317 | 348 | 344 | 445 | Domain | Note=Protein kinase 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q96S38 | 317 | 348 | 319 | 319 | Natural variant | ID=VAR_040649;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56369827,PMID:17344846 |
| Q96S38 | 348 | 364 | 1 | 1066 | Chain | ID=PRO_0000233127;Note=Ribosomal protein S6 kinase delta-1 |
| Q96S38 | 348 | 364 | 344 | 445 | Domain | Note=Protein kinase 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q96S38 | 940 | 970 | 1 | 1066 | Chain | ID=PRO_0000233127;Note=Ribosomal protein S6 kinase delta-1 |
| Q96S38 | 940 | 970 | 794 | 1056 | Domain | Note=Protein kinase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q96S38 | 998 | 1030 | 1 | 1066 | Chain | ID=PRO_0000233127;Note=Ribosomal protein S6 kinase delta-1 |
| Q96S38 | 998 | 1030 | 794 | 1056 | Domain | Note=Protein kinase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q96S38 | 998 | 1030 | 1003 | 1003 | Natural variant | ID=VAR_040656;Note=In a lung adenocarcinoma sample%3B somatic mutation. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846 |
| Q96S38 | 998 | 1030 | 1022 | 1022 | Natural variant | ID=VAR_040657;Note=In a breast infiltrating ductal carcinoma sample%3B somatic mutation. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846 |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213436064 | 213436159 | 213436140 | 213436141 | Frame_Shift_Del | CT | - | p.A1024fs |
| KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213414045 | 213416001 | 213415489 | 213415490 | Frame_Shift_Ins | - | A | p.K891fs |
| SNU1197_LARGE_INTESTINE | 213244348 | 213244383 | 213244367 | 213244367 | Missense_Mutation | C | T | p.P42L |
| LS411N_LARGE_INTESTINE | 213277796 | 213277911 | 213277847 | 213277847 | Missense_Mutation | T | C | p.L105P |
| SKMEL2_SKIN | 213290659 | 213290752 | 213290731 | 213290731 | Missense_Mutation | T | C | p.F151L |
| NCIH2029_LUNG | 213302870 | 213303232 | 213302902 | 213302902 | Missense_Mutation | A | C | p.T169P |
| HT3_CERVIX | 213302870 | 213303232 | 213302918 | 213302918 | Missense_Mutation | C | T | p.S174F |
| RKO_LARGE_INTESTINE | 213302870 | 213303232 | 213303065 | 213303065 | Missense_Mutation | G | A | p.R223H |
| SNU81_LARGE_INTESTINE | 213302870 | 213303232 | 213303107 | 213303107 | Missense_Mutation | G | T | p.R237I |
| 639V_URINARY_TRACT | 213302870 | 213303232 | 213303226 | 213303226 | Missense_Mutation | G | A | p.V277I |
| VMRCRCZ_KIDNEY | 213341201 | 213341316 | 213341264 | 213341264 | Missense_Mutation | C | A | p.A300E |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 213349743 | 213349835 | 213349771 | 213349771 | Missense_Mutation | T | C | p.L327P |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213349743 | 213349835 | 213349771 | 213349771 | Missense_Mutation | T | C | p.L327P |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 213349743 | 213349835 | 213349777 | 213349777 | Missense_Mutation | A | G | p.N329S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213349743 | 213349835 | 213349777 | 213349777 | Missense_Mutation | A | G | p.N329S |
| HCC202_BREAST | 213349743 | 213349835 | 213349778 | 213349778 | Missense_Mutation | C | G | p.N329K |
| JHUEM7_ENDOMETRIUM | 213349743 | 213349835 | 213349830 | 213349830 | Missense_Mutation | G | T | p.D347Y |
| MCCAR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213403840 | 213403887 | 213403856 | 213403856 | Missense_Mutation | A | G | p.D354G |
| NO10_CENTRAL_NERVOUS_SYSTEM | 213403840 | 213403887 | 213403870 | 213403870 | Missense_Mutation | C | G | p.Q359E |
| UACC812_BREAST | 213403840 | 213403887 | 213403874 | 213403874 | Missense_Mutation | C | T | p.T360I |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 213405466 | 213405598 | 213405533 | 213405533 | Missense_Mutation | T | C | p.M387T |
| HEC108_ENDOMETRIUM | 213405466 | 213405598 | 213405551 | 213405551 | Missense_Mutation | A | G | p.Y393C |
| GP2D_LARGE_INTESTINE | 213405466 | 213405598 | 213405572 | 213405572 | Missense_Mutation | T | C | p.V400A |
| GP5D_LARGE_INTESTINE | 213405466 | 213405598 | 213405572 | 213405572 | Missense_Mutation | T | C | p.V400A |
| EFO27_OVARY | 213414045 | 213416001 | 213414090 | 213414090 | Missense_Mutation | C | A | p.P424H |
| NCIH2110_LUNG | 213414045 | 213416001 | 213414260 | 213414260 | Missense_Mutation | C | G | p.Q481E |
| JHH7_LIVER | 213414045 | 213416001 | 213414336 | 213414336 | Missense_Mutation | A | C | p.E506A |
| NCIH1755_LUNG | 213414045 | 213416001 | 213414342 | 213414342 | Missense_Mutation | G | T | p.C508F |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213414045 | 213416001 | 213414363 | 213414363 | Missense_Mutation | T | C | p.L515S |
| JMSU1_URINARY_TRACT | 213414045 | 213416001 | 213414411 | 213414411 | Missense_Mutation | A | C | p.E531A |
| NCIH1770_LUNG | 213414045 | 213416001 | 213414479 | 213414479 | Missense_Mutation | C | A | p.L554I |
| NCIH2106_LUNG | 213414045 | 213416001 | 213414479 | 213414479 | Missense_Mutation | C | A | p.L554I |
| SNU1040_LARGE_INTESTINE | 213414045 | 213416001 | 213414608 | 213414608 | Missense_Mutation | C | T | p.P597S |
| SNU81_LARGE_INTESTINE | 213414045 | 213416001 | 213414619 | 213414619 | Missense_Mutation | C | A | p.F600L |
| DBTRG05MG_CENTRAL_NERVOUS_SYSTEM | 213414045 | 213416001 | 213414750 | 213414750 | Missense_Mutation | G | A | p.S644N |
| ZR7530_BREAST | 213414045 | 213416001 | 213414834 | 213414834 | Missense_Mutation | C | T | p.S672L |
| GIMEN_AUTONOMIC_GANGLIA | 213414045 | 213416001 | 213414842 | 213414842 | Missense_Mutation | G | T | p.D675Y |
| HLFA_FIBROBLAST | 213414045 | 213416001 | 213414861 | 213414861 | Missense_Mutation | T | C | p.V681A |
| TOV21G_OVARY | 213414045 | 213416001 | 213414979 | 213414979 | Missense_Mutation | A | G | p.I720M |
| HEC251_ENDOMETRIUM | 213414045 | 213416001 | 213415011 | 213415011 | Missense_Mutation | T | C | p.V731A |
| HCT15_LARGE_INTESTINE | 213414045 | 213416001 | 213415019 | 213415019 | Missense_Mutation | C | A | p.L734I |
| HRT18_LARGE_INTESTINE | 213414045 | 213416001 | 213415019 | 213415019 | Missense_Mutation | C | A | p.L734I |
| NCIH1155_LUNG | 213414045 | 213416001 | 213415046 | 213415046 | Missense_Mutation | G | A | p.A743T |
| HEC151_ENDOMETRIUM | 213414045 | 213416001 | 213415059 | 213415059 | Missense_Mutation | A | G | p.K747R |
| SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213414045 | 213416001 | 213415059 | 213415059 | Missense_Mutation | A | G | p.K747R |
| JHH4_LIVER | 213414045 | 213416001 | 213415059 | 213415059 | Missense_Mutation | A | G | p.K747R |
| IGROV1_OVARY | 213414045 | 213416001 | 213415066 | 213415066 | Missense_Mutation | A | G | p.I749M |
| VAL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213414045 | 213416001 | 213415182 | 213415182 | Missense_Mutation | A | G | p.D788G |
| G401_SOFT_TISSUE | 213414045 | 213416001 | 213415211 | 213415211 | Missense_Mutation | A | C | p.K798Q |
| MEWO_SKIN | 213414045 | 213416001 | 213415292 | 213415292 | Missense_Mutation | C | T | p.L825F |
| HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213414045 | 213416001 | 213415366 | 213415366 | Missense_Mutation | G | T | p.Q849H |
| LNCAPCLONEFGC_PROSTATE | 213414045 | 213416001 | 213415509 | 213415509 | Missense_Mutation | C | A | p.S897Y |
| HEC1A_ENDOMETRIUM | 213414045 | 213416001 | 213415544 | 213415544 | Missense_Mutation | T | C | p.W909R |
| HEC1_ENDOMETRIUM | 213414045 | 213416001 | 213415544 | 213415544 | Missense_Mutation | T | C | p.W909R |
| HEC1B_ENDOMETRIUM | 213414045 | 213416001 | 213415544 | 213415544 | Missense_Mutation | T | C | p.W909R |
| NCIH841_LUNG | 213414045 | 213416001 | 213415612 | 213415612 | Missense_Mutation | C | G | p.N931K |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 213414045 | 213416001 | 213415637 | 213415637 | Missense_Mutation | A | G | p.R940G |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 213415912 | 213416001 | 213415977 | 213415977 | Missense_Mutation | A | G | p.I963V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 213414045 | 213416001 | 213415977 | 213415977 | Missense_Mutation | A | G | p.I963V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213415912 | 213416001 | 213415977 | 213415977 | Missense_Mutation | A | G | p.I963V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213414045 | 213416001 | 213415977 | 213415977 | Missense_Mutation | A | G | p.I963V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213415912 | 213416001 | 213415981 | 213415981 | Missense_Mutation | A | C | p.E964A |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 213414045 | 213416001 | 213415981 | 213415981 | Missense_Mutation | A | C | p.E964A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 213415912 | 213416001 | 213415981 | 213415981 | Missense_Mutation | A | C | p.E964A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 213414045 | 213416001 | 213415981 | 213415981 | Missense_Mutation | A | C | p.E964A |
| HCC2450_LUNG | 213436064 | 213436159 | 213436082 | 213436082 | Missense_Mutation | C | T | p.P1005S |
| HCC2218_BREAST | 213436064 | 213436159 | 213436133 | 213436133 | Missense_Mutation | G | A | p.E1022K |
| YKG1_CENTRAL_NERVOUS_SYSTEM | 213436064 | 213436159 | 213436140 | 213436140 | Missense_Mutation | C | A | p.A1024D |
| HT115_LARGE_INTESTINE | 213251038 | 213251158 | 213251049 | 213251049 | Nonsense_Mutation | G | A | p.W51* |
| MHHNB11_AUTONOMIC_GANGLIA | 213290659 | 213290752 | 213290711 | 213290711 | Nonsense_Mutation | C | A | p.S144* |
| NCIH3255_LUNG | 213414045 | 213416001 | 213414260 | 213414260 | Nonsense_Mutation | C | T | p.Q481* |
| SW156_KIDNEY | 213414045 | 213416001 | 213414878 | 213414878 | Nonsense_Mutation | G | T | p.G687* |
| SNU81_LARGE_INTESTINE | 213414045 | 213416001 | 213414983 | 213414983 | Nonsense_Mutation | G | T | p.E722* |
| U87MG_CENTRAL_NERVOUS_SYSTEM | 213414045 | 213416001 | 213415037 | 213415037 | Nonsense_Mutation | C | T | p.Q740* |
| NCIH211_LUNG | 213244348 | 213244383 | 213244348 | 213244348 | Splice_Site | G | T | p.V36F |