| Mutation ID |
32 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000399262 |
| Start |
63208052:63208053(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3616_3617insAACTTTAC |
| AA Mutation |
p.Ala1206GlufsTer30(p.A1206Efs*30) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000399262 |
| Start |
63176453:63176454(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7244_7245insGTATATACCTGA |
| AA Mutation |
p.Leu2415_Glu2416insTyrIleProAsp(p.L2415_E2416insYIPD) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> JMJD1C
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399262 |
| Start |
63186275:63186275(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6679G>T |
| AA Mutation |
p.Asp2227Tyr(p.D2227Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399262 |
| Start |
63208598:63208598(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748085239
|
| CDS Mutation |
c.3071G>A |
| AA Mutation |
p.Arg1024Gln(p.R1024Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399262 |
| Start |
63214173:63214173(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1994G>A |
| AA Mutation |
p.Ser665Asn(p.S665N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399262 |
| Start |
63215268:63215268(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760250621
|
| CDS Mutation |
c.1010G>A |
| AA Mutation |
p.Arg337Gln(p.R337Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399262 |
| Start |
63213793:63213793(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2374C>T |
| AA Mutation |
p.His792Tyr(p.H792Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399262 |
| Start |
63189296:63189296(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6442G>T |
| AA Mutation |
p.Asp2148Tyr(p.D2148Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399262 |
| Start |
63208286:63208286(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745461131
|
| CDS Mutation |
c.3383C>T |
| AA Mutation |
p.Ala1128Val(p.A1128V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399262 |
| Start |
63197494:63197494(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5561T>C |
| AA Mutation |
p.Phe1854Ser(p.F1854S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399262 |
| Start |
63189210:63189210(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6528C>G |
| AA Mutation |
p.Ser2176Arg(p.S2176R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399262 |
| Start |
63214051:63214051(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2116G>T |
| AA Mutation |
p.Asp706Tyr(p.D706Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399262 |
| Start |
63214092:63214092(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757313937
|
| CDS Mutation |
c.2075G>A |
| AA Mutation |
p.Arg692Gln(p.R692Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399262 |
| Start |
63215064:63215064(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200644675
|
| CDS Mutation |
c.1103G>A |
| AA Mutation |
p.Arg368Gln(p.R368Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000399262 |
| Start |
63189402:63189402(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6336A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000399262 |
| Start |
63192939:63192939(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6075delA |
| AA Mutation |
p.Glu2026LysfsTer45(p.E2026Kfs*45) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|