Depth of coverage in three exons | Mutation description |
| Sample: TCGA-L5-A893-01 |
Cancer type: ESCA |
ESID: exon_skip_328529 |
Skipped exon start: 109379693 |
Skipped exon end: 109384844 |
Mutation start: 109384333 |
Mutation end: 109384333 |
Mutation type: Frame_Shift_Del |
Reference seq: T |
Mutation seq: - |
AAchange: p.D2446fs |
| Sample: TCGA-L5-A893-01 |
Cancer type: ESCA |
ESID: exon_skip_328529 |
Skipped exon start: 109379693 |
Skipped exon end: 109384844 |
Mutation start: 109384333 |
Mutation end: 109384333 |
Mutation type: Frame_Shift_Del |
Reference seq: T |
Mutation seq: - |
AAchange: p.S2447fs |
exon_skip_328529_ESCA_TCGA-L5-A893-01.png
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| Sample: TCGA-HU-A4G8-01 |
Cancer type: STAD |
ESID: exon_skip_328529 |
Skipped exon start: 109379693 |
Skipped exon end: 109384844 |
Mutation start: 109380652 |
Mutation end: 109380652 |
Mutation type: Frame_Shift_Del |
Reference seq: A |
Mutation seq: - |
AAchange: p.V1219fs |
exon_skip_115627_STAD_TCGA-HU-A4G8-01.png
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exon_skip_285856_STAD_TCGA-HU-A4G8-01.png
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exon_skip_308974_STAD_TCGA-HU-A4G8-01.png
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exon_skip_328529_STAD_TCGA-HU-A4G8-01.png
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exon_skip_374468_STAD_TCGA-HU-A4G8-01.png
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exon_skip_374469_STAD_TCGA-HU-A4G8-01.png
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exon_skip_45545_STAD_TCGA-HU-A4G8-01.png
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exon_skip_49506_STAD_TCGA-HU-A4G8-01.png
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exon_skip_507604_STAD_TCGA-HU-A4G8-01.png
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exon_skip_513485_STAD_TCGA-HU-A4G8-01.png
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exon_skip_92194_STAD_TCGA-HU-A4G8-01.png
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| Sample: TCGA-HU-8602-01 |
Cancer type: STAD |
ESID: exon_skip_328529 |
Skipped exon start: 109379693 |
Skipped exon end: 109384844 |
Mutation start: 109380873 |
Mutation end: 109380873 |
Mutation type: Frame_Shift_Del |
Reference seq: T |
Mutation seq: - |
AAchange: p.L1293fs |
| Sample: TCGA-HU-8602-01 |
Cancer type: STAD |
ESID: exon_skip_328529 |
Skipped exon start: 109379693 |
Skipped exon end: 109384844 |
Mutation start: 109379723 |
Mutation end: 109379723 |
Mutation type: Frame_Shift_Del |
Reference seq: C |
Mutation seq: - |
AAchange: p.P909fs |
exon_skip_110606_STAD_TCGA-HU-8602-01.png
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exon_skip_12723_STAD_TCGA-HU-8602-01.png
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exon_skip_12741_STAD_TCGA-HU-8602-01.png
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exon_skip_129202_STAD_TCGA-HU-8602-01.png
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exon_skip_142361_STAD_TCGA-HU-8602-01.png
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exon_skip_17013_STAD_TCGA-HU-8602-01.png
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exon_skip_28391_STAD_TCGA-HU-8602-01.png
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exon_skip_328529_STAD_TCGA-HU-8602-01.png
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exon_skip_35193_STAD_TCGA-HU-8602-01.png
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exon_skip_364609_STAD_TCGA-HU-8602-01.png
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exon_skip_3733_STAD_TCGA-HU-8602-01.png
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exon_skip_3734_STAD_TCGA-HU-8602-01.png
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exon_skip_424540_STAD_TCGA-HU-8602-01.png
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exon_skip_443675_STAD_TCGA-HU-8602-01.png
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exon_skip_466134_STAD_TCGA-HU-8602-01.png
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exon_skip_475115_STAD_TCGA-HU-8602-01.png
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exon_skip_482067_STAD_TCGA-HU-8602-01.png
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exon_skip_489785_STAD_TCGA-HU-8602-01.png
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exon_skip_489794_STAD_TCGA-HU-8602-01.png
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exon_skip_96034_STAD_TCGA-HU-8602-01.png
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Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
BICR18_UPPER_AERODIGESTIVE_TRACT | 109379693 | 109384844 | 109379821 | 109379822 | Frame_Shift_Del | TG | - | p.A943fs |
BICR18_UPPER_AERODIGESTIVE_TRACT | 109379693 | 109384844 | 109379824 | 109379824 | Frame_Shift_Del | A | - | p.A943fs |
NK92MI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109383269 | 109383270 | Frame_Shift_Del | AC | - | p.T2092fs |
HEC1A_ENDOMETRIUM | 109379693 | 109384844 | 109383586 | 109383587 | Frame_Shift_Del | GG | - | p.G2198fs |
MZ7MEL_SKIN | 109379693 | 109384844 | 109381418 | 109381419 | Frame_Shift_Ins | - | T | p.V1475fs |
LMSU_STOMACH | 109379693 | 109384844 | 109382881 | 109382882 | Frame_Shift_Ins | - | A | p.K1963fs |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109379820 | 109379822 | In_Frame_Del | CTG | - | p.A943del |
TCCSUP_URINARY_TRACT | 109379693 | 109384844 | 109381047 | 109381049 | In_Frame_Del | AAG | - | p.E1352del |
CCK81_LARGE_INTESTINE | 109379693 | 109384844 | 109382652 | 109382654 | In_Frame_Del | AAG | - | p.E1887del |
JHH7_LIVER | 109356945 | 109357137 | 109356949 | 109356949 | Missense_Mutation | G | A | p.D263N |
HCT15_LARGE_INTESTINE | 109356945 | 109357137 | 109357001 | 109357001 | Missense_Mutation | C | A | p.A280D |
SNU175_LARGE_INTESTINE | 109356945 | 109357137 | 109357069 | 109357069 | Missense_Mutation | C | T | p.H303Y |
TE125T_FIBROBLAST | 109379693 | 109384844 | 109379700 | 109379700 | Missense_Mutation | T | G | p.V902G |
2313287_STOMACH | 109379693 | 109384844 | 109379709 | 109379709 | Missense_Mutation | T | C | p.M905T |
SNUC2B_LARGE_INTESTINE | 109379693 | 109384844 | 109379720 | 109379720 | Missense_Mutation | C | T | p.P909S |
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109379748 | 109379748 | Missense_Mutation | C | T | p.P918L |
SNU1040_LARGE_INTESTINE | 109379693 | 109384844 | 109379766 | 109379766 | Missense_Mutation | C | T | p.P924L |
JHUEM7_ENDOMETRIUM | 109379693 | 109384844 | 109379772 | 109379772 | Missense_Mutation | T | C | p.V926A |
NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109379797 | 109379797 | Missense_Mutation | C | G | p.F934L |
VAESBJ_SOFT_TISSUE | 109379693 | 109384844 | 109379847 | 109379847 | Missense_Mutation | C | T | p.T951M |
HCC2998_LARGE_INTESTINE | 109379693 | 109384844 | 109379855 | 109379855 | Missense_Mutation | C | A | p.L954I |
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109379927 | 109379927 | Missense_Mutation | C | T | p.P978S |
HS839T_FIBROBLAST | 109379693 | 109384844 | 109379982 | 109379982 | Missense_Mutation | C | T | p.S996F |
C33A_CERVIX | 109379693 | 109384844 | 109380062 | 109380062 | Missense_Mutation | G | A | p.A1023T |
JHUEM1_ENDOMETRIUM | 109379693 | 109384844 | 109380177 | 109380177 | Missense_Mutation | G | A | p.S1061N |
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109380180 | 109380180 | Missense_Mutation | A | G | p.N1062S |
HCT15_LARGE_INTESTINE | 109379693 | 109384844 | 109380198 | 109380198 | Missense_Mutation | G | A | p.G1068D |
KYSE410_OESOPHAGUS | 109379693 | 109384844 | 109380293 | 109380293 | Missense_Mutation | A | G | p.N1100D |
YD38_UPPER_AERODIGESTIVE_TRACT | 109379693 | 109384844 | 109380339 | 109380339 | Missense_Mutation | T | C | p.M1115T |
SUM159PT_BREAST | 109379693 | 109384844 | 109380375 | 109380375 | Missense_Mutation | G | A | p.R1127Q |
MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109380414 | 109380414 | Missense_Mutation | C | T | p.S1140L |
DMS273_LUNG | 109379693 | 109384844 | 109380417 | 109380417 | Missense_Mutation | T | C | p.V1141A |
HCC15_LUNG | 109379693 | 109384844 | 109380480 | 109380480 | Missense_Mutation | A | G | p.H1162R |
KYSE150_OESOPHAGUS | 109379693 | 109384844 | 109380538 | 109380538 | Missense_Mutation | G | C | p.K1181N |
LK2_LUNG | 109379693 | 109384844 | 109380543 | 109380543 | Missense_Mutation | A | T | p.E1183V |
NCIH1688_LUNG | 109379693 | 109384844 | 109380559 | 109380559 | Missense_Mutation | G | T | p.E1188D |
NBTU110_AUTONOMIC_GANGLIA | 109379693 | 109384844 | 109380577 | 109380577 | Missense_Mutation | C | A | p.F1194L |
HEC59_ENDOMETRIUM | 109379693 | 109384844 | 109380588 | 109380588 | Missense_Mutation | G | A | p.R1198H |
U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109380588 | 109380588 | Missense_Mutation | G | A | p.R1198H |
TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109380588 | 109380588 | Missense_Mutation | G | A | p.R1198H |
HCC2998_LARGE_INTESTINE | 109379693 | 109384844 | 109380608 | 109380608 | Missense_Mutation | G | A | p.D1205N |
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109380638 | 109380638 | Missense_Mutation | G | A | p.G1215R |
HT115_LARGE_INTESTINE | 109379693 | 109384844 | 109380656 | 109380656 | Missense_Mutation | A | C | p.I1221L |
TGW_AUTONOMIC_GANGLIA | 109379693 | 109384844 | 109380707 | 109380707 | Missense_Mutation | C | A | p.Q1238K |
NMCG1_CENTRAL_NERVOUS_SYSTEM | 109379693 | 109384844 | 109380780 | 109380780 | Missense_Mutation | G | A | p.R1262K |
HEC50B_ENDOMETRIUM | 109379693 | 109384844 | 109380813 | 109380813 | Missense_Mutation | A | G | p.D1273G |
HOP92_LUNG | 109379693 | 109384844 | 109380813 | 109380813 | Missense_Mutation | A | G | p.D1273G |
Y79_AUTONOMIC_GANGLIA | 109379693 | 109384844 | 109380877 | 109380877 | Missense_Mutation | T | A | p.F1294L |
COV504_OVARY | 109379693 | 109384844 | 109380889 | 109380889 | Missense_Mutation | T | A | p.F1298L |
NCIH650_LUNG | 109379693 | 109384844 | 109381052 | 109381052 | Missense_Mutation | G | T | p.G1353W |
NCIH1693_LUNG | 109379693 | 109384844 | 109381151 | 109381151 | Missense_Mutation | G | T | p.V1386F |
NCIH1819_LUNG | 109379693 | 109384844 | 109381151 | 109381151 | Missense_Mutation | G | T | p.V1386F |
NCIH596_LUNG | 109379693 | 109384844 | 109381193 | 109381193 | Missense_Mutation | A | C | p.S1400R |
MZ7MEL_SKIN | 109379693 | 109384844 | 109381194 | 109381194 | Missense_Mutation | G | A | p.S1400N |
LAN6_AUTONOMIC_GANGLIA | 109379693 | 109384844 | 109381251 | 109381251 | Missense_Mutation | G | T | p.W1419L |
COV434_OVARY | 109379693 | 109384844 | 109381260 | 109381260 | Missense_Mutation | G | A | p.S1422N |
YD38_UPPER_AERODIGESTIVE_TRACT | 109379693 | 109384844 | 109381293 | 109381293 | Missense_Mutation | C | G | p.S1433C |
NCIH2342_LUNG | 109379693 | 109384844 | 109381341 | 109381341 | Missense_Mutation | C | G | p.S1449C |
ANGMCSS_CENTRAL_NERVOUS_SYSTEM | 109379693 | 109384844 | 109381411 | 109381411 | Missense_Mutation | C | G | p.F1472L |
HSC1_SKIN | 109379693 | 109384844 | 109381430 | 109381430 | Missense_Mutation | A | G | p.K1479E |
CW2_LARGE_INTESTINE | 109379693 | 109384844 | 109381509 | 109381509 | Missense_Mutation | C | T | p.P1505L |
42MGBA_CENTRAL_NERVOUS_SYSTEM | 109379693 | 109384844 | 109381544 | 109381544 | Missense_Mutation | A | G | p.T1517A |
KPNYS_AUTONOMIC_GANGLIA | 109379693 | 109384844 | 109381701 | 109381701 | Missense_Mutation | C | T | p.P1569L |
NCIH520_LUNG | 109379693 | 109384844 | 109381708 | 109381708 | Missense_Mutation | A | T | p.K1571N |
HEC108_ENDOMETRIUM | 109379693 | 109384844 | 109381851 | 109381851 | Missense_Mutation | A | G | p.N1619S |
KYSE140_OESOPHAGUS | 109379693 | 109384844 | 109381851 | 109381851 | Missense_Mutation | A | G | p.N1619S |
OSC20_UPPER_AERODIGESTIVE_TRACT | 109379693 | 109384844 | 109381851 | 109381851 | Missense_Mutation | A | G | p.N1619S |
SNUC2B_LARGE_INTESTINE | 109379693 | 109384844 | 109381853 | 109381853 | Missense_Mutation | G | A | p.E1620K |
NCIH630_LARGE_INTESTINE | 109379693 | 109384844 | 109381863 | 109381863 | Missense_Mutation | C | T | p.A1623V |
CL11_LARGE_INTESTINE | 109379693 | 109384844 | 109382282 | 109382282 | Missense_Mutation | G | A | p.A1763T |
KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109382448 | 109382448 | Missense_Mutation | C | T | p.P1818L |
NB10_AUTONOMIC_GANGLIA | 109379693 | 109384844 | 109382489 | 109382489 | Missense_Mutation | T | C | p.S1832P |
TGW_AUTONOMIC_GANGLIA | 109379693 | 109384844 | 109382530 | 109382530 | Missense_Mutation | C | A | p.F1845L |
SNU81_LARGE_INTESTINE | 109379693 | 109384844 | 109382561 | 109382561 | Missense_Mutation | G | A | p.E1856K |
5637_URINARY_TRACT | 109379693 | 109384844 | 109382583 | 109382583 | Missense_Mutation | A | T | p.H1863L |
SNU886_LIVER | 109379693 | 109384844 | 109382584 | 109382584 | Missense_Mutation | T | A | p.H1863Q |
SW872_SOFT_TISSUE | 109379693 | 109384844 | 109382601 | 109382601 | Missense_Mutation | C | T | p.S1869L |
NCIH2347_LUNG | 109379693 | 109384844 | 109382625 | 109382625 | Missense_Mutation | C | T | p.S1877F |
SKLU1_LUNG | 109379693 | 109384844 | 109382681 | 109382681 | Missense_Mutation | G | A | p.D1896N |
HS698T_FIBROBLAST | 109379693 | 109384844 | 109382683 | 109382683 | Missense_Mutation | T | G | p.D1896E |
SKMEL3_SKIN | 109379693 | 109384844 | 109382732 | 109382732 | Missense_Mutation | G | A | p.E1913K |
CAL120_BREAST | 109379693 | 109384844 | 109382790 | 109382790 | Missense_Mutation | A | G | p.N1932S |
GP5D_LARGE_INTESTINE | 109379693 | 109384844 | 109382804 | 109382804 | Missense_Mutation | A | G | p.I1937V |
C33A_CERVIX | 109379693 | 109384844 | 109382876 | 109382876 | Missense_Mutation | T | A | p.F1961I |
639V_URINARY_TRACT | 109379693 | 109384844 | 109382883 | 109382883 | Missense_Mutation | A | T | p.K1963I |
NCIH630_LARGE_INTESTINE | 109379693 | 109384844 | 109382954 | 109382954 | Missense_Mutation | G | A | p.A1987T |
P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109383003 | 109383003 | Missense_Mutation | A | G | p.Y2003C |
RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109383063 | 109383063 | Missense_Mutation | T | G | p.V2023G |
TOV21G_OVARY | 109379693 | 109384844 | 109383110 | 109383110 | Missense_Mutation | C | T | p.R2039W |
RERFGC1B_STOMACH | 109379693 | 109384844 | 109383207 | 109383207 | Missense_Mutation | T | C | p.L2071P |
KYSE150_OESOPHAGUS | 109379693 | 109384844 | 109383230 | 109383230 | Missense_Mutation | C | A | p.Q2079K |
C80_LARGE_INTESTINE | 109379693 | 109384844 | 109383264 | 109383264 | Missense_Mutation | C | T | p.T2090M |
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109383267 | 109383267 | Missense_Mutation | C | A | p.T2091N |
HEC108_ENDOMETRIUM | 109379693 | 109384844 | 109383270 | 109383270 | Missense_Mutation | C | T | p.T2092M |
HS940T_FIBROBLAST | 109379693 | 109384844 | 109383335 | 109383335 | Missense_Mutation | G | A | p.D2114N |
SNU1040_LARGE_INTESTINE | 109379693 | 109384844 | 109383390 | 109383390 | Missense_Mutation | C | T | p.A2132V |
ESS1_ENDOMETRIUM | 109379693 | 109384844 | 109383395 | 109383395 | Missense_Mutation | G | A | p.E2134K |
MDAMB231_BREAST | 109379693 | 109384844 | 109383557 | 109383557 | Missense_Mutation | C | G | p.Q2188E |
LUDLU1_LUNG | 109379693 | 109384844 | 109383603 | 109383603 | Missense_Mutation | C | T | p.A2203V |
SCC25_UPPER_AERODIGESTIVE_TRACT | 109379693 | 109384844 | 109383617 | 109383617 | Missense_Mutation | G | C | p.D2208H |
SKMEL5_SKIN | 109379693 | 109384844 | 109383638 | 109383638 | Missense_Mutation | C | G | p.P2215A |
KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109383698 | 109383698 | Missense_Mutation | G | C | p.D2235H |
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109383788 | 109383788 | Missense_Mutation | A | G | p.T2265A |
M14_SKIN | 109379693 | 109384844 | 109383825 | 109383825 | Missense_Mutation | C | T | p.P2277L |
MDAMB435S_SKIN | 109379693 | 109384844 | 109383825 | 109383825 | Missense_Mutation | C | T | p.P2277L |
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109383839 | 109383839 | Missense_Mutation | G | A | p.A2282T |
T84_LARGE_INTESTINE | 109379693 | 109384844 | 109383887 | 109383887 | Missense_Mutation | G | T | p.D2298Y |
SW756_CERVIX | 109379693 | 109384844 | 109383914 | 109383914 | Missense_Mutation | G | A | p.G2307R |
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109384035 | 109384035 | Missense_Mutation | G | T | p.G2347V |
HEC251_ENDOMETRIUM | 109379693 | 109384844 | 109384078 | 109384078 | Missense_Mutation | G | T | p.Q2361H |
MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 109379693 | 109384844 | 109384211 | 109384211 | Missense_Mutation | G | A | p.A2406T |
HCT15_LARGE_INTESTINE | 109379693 | 109384844 | 109384216 | 109384216 | Missense_Mutation | T | G | p.C2407W |
HEC108_ENDOMETRIUM | 109379693 | 109384844 | 109384340 | 109384340 | Missense_Mutation | A | G | p.I2449V |
HEC251_ENDOMETRIUM | 109379693 | 109384844 | 109384364 | 109384364 | Missense_Mutation | A | G | p.S2457G |
OAW42_OVARY | 109379693 | 109384844 | 109384572 | 109384572 | Missense_Mutation | G | A | p.S2526N |
RVH421_SKIN | 109379693 | 109384844 | 109384589 | 109384589 | Missense_Mutation | C | T | p.P2532S |
RVH421_SKIN | 109379693 | 109384844 | 109384589 | 109384590 | Missense_Mutation | CC | TT | p.P2532L |
RVH421_SKIN | 109379693 | 109384844 | 109384590 | 109384590 | Missense_Mutation | C | T | p.P2532L |
HCC2450_LUNG | 109379693 | 109384844 | 109384743 | 109384743 | Missense_Mutation | C | G | p.S2583C |
SNU1040_LARGE_INTESTINE | 109379693 | 109384844 | 109384781 | 109384781 | Missense_Mutation | C | T | p.L2596F |
ES2_OVARY | 109379693 | 109384844 | 109384797 | 109384797 | Missense_Mutation | C | G | p.P2601R |
MELHO_SKIN | 109379693 | 109384844 | 109384803 | 109384803 | Missense_Mutation | A | G | p.E2603G |
KMH2_THYROID | 109392188 | 109392392 | 109392194 | 109392194 | Missense_Mutation | C | A | p.Q2767K |
CASKI_CERVIX | 109392188 | 109392392 | 109392197 | 109392197 | Missense_Mutation | A | G | p.T2768A |
SNU1040_LARGE_INTESTINE | 109392188 | 109392392 | 109392254 | 109392254 | Missense_Mutation | G | A | p.V2787I |
OE19_OESOPHAGUS | 109392188 | 109392392 | 109392336 | 109392336 | Missense_Mutation | A | G | p.D2814G |
VMRCLCD_LUNG | 109392188 | 109392392 | 109392374 | 109392374 | Missense_Mutation | A | T | p.T2827S |
CCK81_LARGE_INTESTINE | 109379693 | 109384844 | 109381658 | 109381658 | Nonsense_Mutation | C | T | p.R1555* |
HS578T_BREAST | 109379693 | 109384844 | 109382196 | 109382196 | Nonsense_Mutation | T | A | p.L1734* |
NUGC3_STOMACH | 109393586 | 109393687 | 109393687 | 109393687 | Splice_Site | G | T | p.D2867Y |