Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_343855 | 2 | 145145583:145147595:145153978:145154159:145155867:145157837 | 145153978:145154159 | ENSG00000169554.12 | ENST00000539609.3,ENST00000303660.4,ENST00000409487.3,ENST00000558170.2 |
exon_skip_343858 | 2 | 145153978:145154159:145155867:145157837:145158765:145158874 | 145155867:145157837 | ENSG00000169554.12 | ENST00000539609.3,ENST00000303660.4,ENST00000409487.3,ENST00000558170.2 |
exon_skip_343859 | 2 | 145161561:145161697:145162402:145162591:145182362:145182434 | 145162402:145162591 | ENSG00000169554.12 | ENST00000303660.4,ENST00000409487.3,ENST00000392861.2,ENST00000558170.2,ENST00000427902.1 |
exon_skip_343860 | 2 | 145161561:145161697:145162402:145162591:145187335:145187593 | 145162402:145162591 | ENSG00000169554.12 | ENST00000539609.3 |
exon_skip_343862 | 2 | 145162435:145162591:145182362:145182434:145187335:145187593 | 145182362:145182434 | ENSG00000169554.12 | ENST00000303660.4,ENST00000409487.3,ENST00000392861.2,ENST00000558170.2,ENST00000440875.1,ENST00000427902.1 |
exon_skip_343864 | 2 | 145187477:145187593:145255274:145255331:145274844:145274986 | 145255274:145255331 | ENSG00000169554.12 | ENST00000434448.1,ENST00000453352.1 |
exon_skip_343865 | 2 | 145187477:145187593:145274844:145274986:145277505:145277569 | 145274844:145274986 | ENSG00000169554.12 | ENST00000539609.3,ENST00000303660.4,ENST00000444559.1,ENST00000472146.1 |
exon_skip_343867 | 2 | 145274917:145274986:145275859:145276013:145277505:145277569 | 145275859:145276013 | ENSG00000169554.12 | ENST00000465308.1 |
exon_skip_343868 | 2 | 145274917:145274986:145277505:145277775:145277918:145277953 | 145277505:145277775 | ENSG00000169554.12 | ENST00000444559.1 |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_343855 | 2 | 145145583:145147595:145153978:145154159:145155867:145157837 | 145153978:145154159 | ENSG00000169554.12 | ENST00000558170.2,ENST00000409487.3,ENST00000303660.4,ENST00000539609.3 |
exon_skip_343858 | 2 | 145153978:145154159:145155867:145157837:145158765:145158874 | 145155867:145157837 | ENSG00000169554.12 | ENST00000558170.2,ENST00000409487.3,ENST00000303660.4,ENST00000539609.3 |
exon_skip_343859 | 2 | 145161561:145161697:145162402:145162591:145182362:145182434 | 145162402:145162591 | ENSG00000169554.12 | ENST00000558170.2,ENST00000409487.3,ENST00000303660.4,ENST00000427902.1,ENST00000392861.2 |
exon_skip_343860 | 2 | 145161561:145161697:145162402:145162591:145187335:145187593 | 145162402:145162591 | ENSG00000169554.12 | ENST00000539609.3 |
exon_skip_343862 | 2 | 145162435:145162591:145182362:145182434:145187335:145187593 | 145182362:145182434 | ENSG00000169554.12 | ENST00000558170.2,ENST00000409487.3,ENST00000303660.4,ENST00000427902.1,ENST00000392861.2,ENST00000440875.1 |
exon_skip_343864 | 2 | 145187477:145187593:145255274:145255331:145274844:145274986 | 145255274:145255331 | ENSG00000169554.12 | ENST00000434448.1,ENST00000453352.1 |
exon_skip_343865 | 2 | 145187477:145187593:145274844:145274986:145277505:145277569 | 145274844:145274986 | ENSG00000169554.12 | ENST00000303660.4,ENST00000539609.3,ENST00000472146.1,ENST00000444559.1 |
exon_skip_343866 | 2 | 145219749:145219904:145221732:145221909:145274844:145274986 | 145221732:145221909 | ENSG00000169554.12 | ENST00000484313.1 |
exon_skip_343867 | 2 | 145274917:145274986:145275859:145276013:145277505:145277569 | 145275859:145276013 | ENSG00000169554.12 | ENST00000465308.1 |
exon_skip_343868 | 2 | 145274917:145274986:145277505:145277775:145277918:145277953 | 145277505:145277775 | ENSG00000169554.12 | ENST00000444559.1 |
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 |
O60315 | 110 | 134 | 111 | 134 | Alternative sequence | ID=VSP_044797;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
O60315 | 110 | 134 | 111 | 134 | Alternative sequence | ID=VSP_044797;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
O60315 | 110 | 134 | 1 | 1214 | Chain | ID=PRO_0000047236;Note=Zinc finger E-box-binding homeobox 2 |
O60315 | 110 | 134 | 1 | 1214 | Chain | ID=PRO_0000047236;Note=Zinc finger E-box-binding homeobox 2 |
O60315 | 134 | 197 | 111 | 134 | Alternative sequence | ID=VSP_044797;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
O60315 | 134 | 197 | 111 | 134 | Alternative sequence | ID=VSP_044797;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
O60315 | 134 | 197 | 1 | 1214 | Chain | ID=PRO_0000047236;Note=Zinc finger E-box-binding homeobox 2 |
O60315 | 134 | 197 | 1 | 1214 | Chain | ID=PRO_0000047236;Note=Zinc finger E-box-binding homeobox 2 |
O60315 | 134 | 197 | 142 | 142 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
O60315 | 134 | 197 | 142 | 142 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
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 |
O60315 | 110 | 134 | 111 | 134 | Alternative sequence | ID=VSP_044797;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
O60315 | 110 | 134 | 111 | 134 | Alternative sequence | ID=VSP_044797;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
O60315 | 110 | 134 | 1 | 1214 | Chain | ID=PRO_0000047236;Note=Zinc finger E-box-binding homeobox 2 |
O60315 | 110 | 134 | 1 | 1214 | Chain | ID=PRO_0000047236;Note=Zinc finger E-box-binding homeobox 2 |
O60315 | 134 | 197 | 111 | 134 | Alternative sequence | ID=VSP_044797;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
O60315 | 134 | 197 | 111 | 134 | Alternative sequence | ID=VSP_044797;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
O60315 | 134 | 197 | 1 | 1214 | Chain | ID=PRO_0000047236;Note=Zinc finger E-box-binding homeobox 2 |
O60315 | 134 | 197 | 1 | 1214 | Chain | ID=PRO_0000047236;Note=Zinc finger E-box-binding homeobox 2 |
O60315 | 134 | 197 | 142 | 142 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
O60315 | 134 | 197 | 142 | 142 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Depth of coverage in three exons | Mutation description |
| Sample: TCGA-ER-A198-06 |
Cancer type: SKCM |
ESID: exon_skip_343858 |
Skipped exon start: 145155868 |
Skipped exon end: 145157837 |
Mutation start: 145157133 |
Mutation end: 145157133 |
Mutation type: Nonsense_Mutation |
Reference seq: G |
Mutation seq: A |
AAchange: p.Q517X |
| Sample: TCGA-ER-A198-06 |
Cancer type: SKCM |
ESID: exon_skip_343858 |
Skipped exon start: 145155868 |
Skipped exon end: 145157837 |
Mutation start: 145157133 |
Mutation end: 145157133 |
Mutation type: Nonsense_Mutation |
Reference seq: G |
Mutation seq: A |
AAchange: p.Q541* |
exon_skip_343858_SKCM_TCGA-ER-A198-06.png
|
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
BICR18_UPPER_AERODIGESTIVE_TRACT | 145155868 | 145157837 | 145156967 | 145156968 | Frame_Shift_Del | AA | - | p.L596fs |
HEC59_ENDOMETRIUM | 145155868 | 145157837 | 145157328 | 145157328 | Frame_Shift_Del | T | - | p.M476fs |
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145157328 | 145157328 | Frame_Shift_Del | T | - | p.M476fs |
BICR18_UPPER_AERODIGESTIVE_TRACT | 145182363 | 145182434 | 145182409 | 145182410 | Frame_Shift_Del | AG | - | p.T119fs |
GB1_CENTRAL_NERVOUS_SYSTEM | 145182363 | 145182434 | 145182420 | 145182423 | Frame_Shift_Del | CTTC | - | p.ED115fs |
COLO792_SKIN | 145182363 | 145182434 | 145182421 | 145182421 | Frame_Shift_Del | T | - | p.E115fs |
BICR18_UPPER_AERODIGESTIVE_TRACT | 145155868 | 145157837 | 145156972 | 145156973 | Frame_Shift_Ins | - | GA | p.I594fs |
L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145157327 | 145157328 | Frame_Shift_Ins | - | T | p.M476fs |
ESS1_ENDOMETRIUM | 145155868 | 145157837 | 145157327 | 145157328 | Frame_Shift_Ins | - | T | p.M476fs |
HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145157327 | 145157328 | Frame_Shift_Ins | - | T | p.M476fs |
J82_URINARY_TRACT | 145155868 | 145157837 | 145157327 | 145157328 | Frame_Shift_Ins | - | T | p.M476fs |
KMRC20_KIDNEY | 145155868 | 145157837 | 145157327 | 145157328 | Frame_Shift_Ins | - | T | p.M476fs |
KPNSI9S_AUTONOMIC_GANGLIA | 145155868 | 145157837 | 145157327 | 145157328 | Frame_Shift_Ins | - | T | p.M476fs |
NCIH1792_LUNG | 145155868 | 145157837 | 145157327 | 145157328 | Frame_Shift_Ins | - | T | p.M476fs |
NCIH2452_PLEURA | 145155868 | 145157837 | 145157327 | 145157328 | Frame_Shift_Ins | - | T | p.M476fs |
NCIH647_LUNG | 145155868 | 145157837 | 145157327 | 145157328 | Frame_Shift_Ins | - | T | p.M476fs |
NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145157327 | 145157328 | Frame_Shift_Ins | - | T | p.M476fs |
OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145157327 | 145157328 | Frame_Shift_Ins | - | T | p.M476fs |
RDES_BONE | 145155868 | 145157837 | 145157327 | 145157328 | Frame_Shift_Ins | - | T | p.M476fs |
RS5_FIBROBLAST | 145155868 | 145157837 | 145157327 | 145157328 | Frame_Shift_Ins | - | T | p.M476fs |
SLR25_KIDNEY | 145155868 | 145157837 | 145157327 | 145157328 | Frame_Shift_Ins | - | T | p.M476fs |
SAT_UPPER_AERODIGESTIVE_TRACT | 145162403 | 145162591 | 145162510 | 145162511 | Frame_Shift_Ins | - | T | p.S162fs |
BICR18_UPPER_AERODIGESTIVE_TRACT | 145182363 | 145182434 | 145182412 | 145182413 | Frame_Shift_Ins | - | CA | p.D118fs |
SNU520_STOMACH | 145155868 | 145157837 | 145157236 | 145157238 | In_Frame_Del | AGG | - | p.P506del |
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145153979 | 145154159 | 145154036 | 145154036 | Missense_Mutation | A | G | p.C1004R |
TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145153979 | 145154159 | 145154071 | 145154071 | Missense_Mutation | T | C | p.K992R |
22RV1_PROSTATE | 145153979 | 145154159 | 145154084 | 145154084 | Missense_Mutation | G | A | p.R988C |
SKMEL28_SKIN | 145153979 | 145154159 | 145154100 | 145154101 | Missense_Mutation | GG | AA | p.S982F |
SKMEL28_SKIN | 145153979 | 145154159 | 145154101 | 145154101 | Missense_Mutation | G | A | p.S982F |
SKCO1_LARGE_INTESTINE | 145153979 | 145154159 | 145154120 | 145154120 | Missense_Mutation | G | T | p.L976I |
BICR18_UPPER_AERODIGESTIVE_TRACT | 145153979 | 145154159 | 145154154 | 145154154 | Missense_Mutation | T | G | p.E964D |
S117_SOFT_TISSUE | 145153979 | 145154159 | 145154154 | 145154154 | Missense_Mutation | T | G | p.E964D |
KM12_LARGE_INTESTINE | 145155868 | 145157837 | 145155892 | 145155892 | Missense_Mutation | C | A | p.K954N |
NCIH69_LUNG | 145155868 | 145157837 | 145155906 | 145155906 | Missense_Mutation | G | T | p.Q950K |
KYSE410_OESOPHAGUS | 145155868 | 145157837 | 145155912 | 145155912 | Missense_Mutation | C | A | p.D948Y |
HEC6_ENDOMETRIUM | 145155868 | 145157837 | 145155966 | 145155966 | Missense_Mutation | T | C | p.S930G |
CAL72_BONE | 145155868 | 145157837 | 145155975 | 145155975 | Missense_Mutation | C | A | p.D927Y |
A253_SALIVARY_GLAND | 145155868 | 145157837 | 145156047 | 145156047 | Missense_Mutation | C | T | p.A903T |
SNU175_LARGE_INTESTINE | 145155868 | 145157837 | 145156047 | 145156047 | Missense_Mutation | C | T | p.A903T |
LXF289_LUNG | 145155868 | 145157837 | 145156048 | 145156048 | Missense_Mutation | G | T | p.S902R |
NCIH650_LUNG | 145155868 | 145157837 | 145156077 | 145156077 | Missense_Mutation | G | T | p.P893T |
FU97_STOMACH | 145155868 | 145157837 | 145156160 | 145156160 | Missense_Mutation | A | T | p.I865N |
HCC515_LUNG | 145155868 | 145157837 | 145156168 | 145156168 | Missense_Mutation | C | G | p.L862F |
EN_ENDOMETRIUM | 145155868 | 145157837 | 145156184 | 145156184 | Missense_Mutation | T | C | p.D857G |
SNU520_STOMACH | 145155868 | 145157837 | 145156202 | 145156202 | Missense_Mutation | G | A | p.S851F |
HEC251_ENDOMETRIUM | 145155868 | 145157837 | 145156238 | 145156238 | Missense_Mutation | G | A | p.A839V |
RH30_SOFT_TISSUE | 145155868 | 145157837 | 145156241 | 145156241 | Missense_Mutation | T | A | p.K838I |
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145156260 | 145156260 | Missense_Mutation | C | T | p.A832T |
BICR18_UPPER_AERODIGESTIVE_TRACT | 145155868 | 145157837 | 145156467 | 145156467 | Missense_Mutation | G | A | p.P763S |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145156467 | 145156467 | Missense_Mutation | G | A | p.P763S |
BICR18_UPPER_AERODIGESTIVE_TRACT | 145155868 | 145157837 | 145156496 | 145156496 | Missense_Mutation | T | C | p.N753S |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145156496 | 145156496 | Missense_Mutation | T | C | p.N753S |
HS895T_FIBROBLAST | 145155868 | 145157837 | 145156499 | 145156499 | Missense_Mutation | G | A | p.T752M |
ES3_BONE | 145155868 | 145157837 | 145156499 | 145156499 | Missense_Mutation | G | A | p.T752M |
SNUC1_LARGE_INTESTINE | 145155868 | 145157837 | 145156508 | 145156508 | Missense_Mutation | T | G | p.N749T |
RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145156548 | 145156549 | Missense_Mutation | TA | CG | p.M736V |
NCIH526_LUNG | 145155868 | 145157837 | 145156562 | 145156562 | Missense_Mutation | G | T | p.S731Y |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145156590 | 145156591 | Missense_Mutation | GA | TG | p.P722T |
HT55_LARGE_INTESTINE | 145155868 | 145157837 | 145156641 | 145156641 | Missense_Mutation | A | T | p.S705T |
HEC151_ENDOMETRIUM | 145155868 | 145157837 | 145156699 | 145156699 | Missense_Mutation | C | A | p.Q685H |
2313287_STOMACH | 145155868 | 145157837 | 145156724 | 145156724 | Missense_Mutation | A | T | p.I677N |
LS411N_LARGE_INTESTINE | 145155868 | 145157837 | 145156814 | 145156814 | Missense_Mutation | C | T | p.S647N |
BICR18_UPPER_AERODIGESTIVE_TRACT | 145155868 | 145157837 | 145156821 | 145156821 | Missense_Mutation | T | G | p.M645L |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145156821 | 145156821 | Missense_Mutation | T | G | p.M645L |
KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145156825 | 145156825 | Missense_Mutation | T | A | p.K643N |
HCT15_LARGE_INTESTINE | 145155868 | 145157837 | 145156841 | 145156841 | Missense_Mutation | G | A | p.S638F |
KNS81FD_CENTRAL_NERVOUS_SYSTEM | 145155868 | 145157837 | 145156865 | 145156865 | Missense_Mutation | T | A | p.D630V |
SKN3_UPPER_AERODIGESTIVE_TRACT | 145155868 | 145157837 | 145156869 | 145156869 | Missense_Mutation | C | T | p.V629I |
HS870T_FIBROBLAST | 145155868 | 145157837 | 145156875 | 145156875 | Missense_Mutation | C | T | p.V627I |
SW480_LARGE_INTESTINE | 145155868 | 145157837 | 145156957 | 145156957 | Missense_Mutation | A | T | p.H599Q |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145157027 | 145157027 | Missense_Mutation | T | C | p.N576S |
HEC6_ENDOMETRIUM | 145155868 | 145157837 | 145157033 | 145157033 | Missense_Mutation | T | A | p.N574I |
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145157075 | 145157075 | Missense_Mutation | C | T | p.R560H |
NCIH1836_LUNG | 145155868 | 145157837 | 145157080 | 145157080 | Missense_Mutation | C | A | p.K558N |
AN3CA_ENDOMETRIUM | 145155868 | 145157837 | 145157111 | 145157111 | Missense_Mutation | C | A | p.R548M |
HEC251_ENDOMETRIUM | 145155868 | 145157837 | 145157168 | 145157168 | Missense_Mutation | G | A | p.T529M |
HEC6_ENDOMETRIUM | 145155868 | 145157837 | 145157168 | 145157168 | Missense_Mutation | G | A | p.T529M |
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145157183 | 145157183 | Missense_Mutation | C | A | p.S524I |
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145157220 | 145157220 | Missense_Mutation | C | T | p.G512S |
NCIH526_LUNG | 145155868 | 145157837 | 145157303 | 145157303 | Missense_Mutation | G | A | p.S484L |
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145157328 | 145157328 | Missense_Mutation | T | C | p.M476V |
NCIN87_STOMACH | 145155868 | 145157837 | 145157411 | 145157411 | Missense_Mutation | A | C | p.L448R |
NCIH358_LUNG | 145155868 | 145157837 | 145157418 | 145157418 | Missense_Mutation | G | T | p.P446T |
DL40_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145157476 | 145157476 | Missense_Mutation | T | G | p.L426F |
SW684_SOFT_TISSUE | 145155868 | 145157837 | 145157480 | 145157480 | Missense_Mutation | G | A | p.P425L |
JHU022_UPPER_AERODIGESTIVE_TRACT | 145155868 | 145157837 | 145157592 | 145157592 | Missense_Mutation | G | T | p.L388I |
5637_URINARY_TRACT | 145155868 | 145157837 | 145157607 | 145157607 | Missense_Mutation | C | G | p.E383Q |
NUGC4_STOMACH | 145155868 | 145157837 | 145157632 | 145157632 | Missense_Mutation | C | G | p.E374D |
SNU1040_LARGE_INTESTINE | 145155868 | 145157837 | 145157643 | 145157643 | Missense_Mutation | T | G | p.N371H |
SNU81_LARGE_INTESTINE | 145155868 | 145157837 | 145157675 | 145157675 | Missense_Mutation | G | T | p.S360Y |
SNU81_LARGE_INTESTINE | 145155868 | 145157837 | 145157758 | 145157758 | Missense_Mutation | C | A | p.K332N |
SNU81_LARGE_INTESTINE | 145155868 | 145157837 | 145157774 | 145157774 | Missense_Mutation | G | A | p.S327L |
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145157820 | 145157820 | Missense_Mutation | A | G | p.C312R |
SNUC2A_LARGE_INTESTINE | 145162403 | 145162591 | 145162442 | 145162442 | Missense_Mutation | G | A | p.R185C |
SNUC2B_LARGE_INTESTINE | 145162403 | 145162591 | 145162442 | 145162442 | Missense_Mutation | G | A | p.R185C |
HS944T_SKIN | 145162403 | 145162591 | 145162490 | 145162490 | Missense_Mutation | G | A | p.R169C |
SNU1040_LARGE_INTESTINE | 145162403 | 145162591 | 145162523 | 145162523 | Missense_Mutation | C | T | p.G158S |
22RV1_PROSTATE | 145162403 | 145162591 | 145162528 | 145162528 | Missense_Mutation | C | T | p.R156H |
JHUEM7_ENDOMETRIUM | 145162403 | 145162591 | 145162538 | 145162538 | Missense_Mutation | G | T | p.L153M |
SNU407_LARGE_INTESTINE | 145182363 | 145182434 | 145182380 | 145182380 | Missense_Mutation | G | A | p.A129V |
BICR18_UPPER_AERODIGESTIVE_TRACT | 145182363 | 145182434 | 145182381 | 145182381 | Missense_Mutation | C | T | p.A129T |
SNU1040_LARGE_INTESTINE | 145182363 | 145182434 | 145182392 | 145182392 | Missense_Mutation | G | A | p.T125M |
NB17_AUTONOMIC_GANGLIA | 145182363 | 145182434 | 145182396 | 145182396 | Missense_Mutation | C | A | p.A124S |
NCIH2286_LUNG | 145182363 | 145182434 | 145182401 | 145182402 | Missense_Mutation | GG | CT | p.P122R |
NCIH2286_LUNG | 145182363 | 145182434 | 145182401 | 145182401 | Missense_Mutation | G | C | p.P122R |
NCIH2286_LUNG | 145182363 | 145182434 | 145182402 | 145182402 | Missense_Mutation | G | T | p.P122T |
PC9_LUNG | 145182363 | 145182434 | 145182413 | 145182413 | Missense_Mutation | T | C | p.D118G |
NCIH810_LUNG | 145274845 | 145274986 | 145274886 | 145274886 | Missense_Mutation | C | T | p.R11Q |
SNU1040_LARGE_INTESTINE | 145274845 | 145274986 | 145274899 | 145274899 | Missense_Mutation | C | T | p.A7T |
SNU1040_LARGE_INTESTINE | 145153979 | 145154159 | 145154000 | 145154000 | Nonsense_Mutation | G | A | p.R1016* |
TFK1_BILIARY_TRACT | 145155868 | 145157837 | 145155870 | 145155870 | Nonsense_Mutation | G | A | p.Q962* |
HCC515_LUNG | 145155868 | 145157837 | 145156187 | 145156187 | Nonsense_Mutation | G | T | p.S856* |
SH10TC_STOMACH | 145155868 | 145157837 | 145156320 | 145156320 | Nonsense_Mutation | G | A | p.Q812* |
NCIH510_LUNG | 145155868 | 145157837 | 145156437 | 145156437 | Nonsense_Mutation | C | A | p.E773* |
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145155868 | 145157837 | 145156682 | 145156682 | Nonsense_Mutation | C | T | p.W691* |
JHUEM7_ENDOMETRIUM | 145162403 | 145162591 | 145162409 | 145162409 | Nonsense_Mutation | C | A | p.E196* |
RKO_LARGE_INTESTINE | 145182363 | 145182434 | 145182387 | 145182387 | Nonsense_Mutation | G | A | p.Q127* |
TE5_OESOPHAGUS | 145153979 | 145154159 | 145154159 | 145154159 | Splice_Site | C | T | p.G963R |
NCIH2110_LUNG | 145162403 | 145162591 | 145162403 | 145162403 | Splice_Site | C | A | p.D198Y |
BICR18_UPPER_AERODIGESTIVE_TRACT | 145162403 | 145162591 | 145162590 | 145162590 | Splice_Site | C | A | p.V135V |
S117_SOFT_TISSUE | 145162403 | 145162591 | 145162590 | 145162590 | Splice_Site | C | A | p.V135V |