| Mutation ID |
40 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000318238 |
| Start |
93135908:93135909(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.63dupA |
| AA Mutation |
p.Trp22MetfsTer4(p.W22Mfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
41 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000318238 |
| Start |
93135969:93135969(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3G>A |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SAMD9L
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318238 |
| Start |
93135716:93135716(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.256G>T |
| AA Mutation |
p.Asp86Tyr(p.D86Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318238 |
| Start |
93131566:93131566(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4406C>T |
| AA Mutation |
p.Ser1469Phe(p.S1469F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318238 |
| Start |
93133594:93133594(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2378A>G |
| AA Mutation |
p.Gln793Arg(p.Q793R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318238 |
| Start |
93132652:93132652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369116471
|
| CDS Mutation |
c.3320G>A |
| AA Mutation |
p.Arg1107His(p.R1107H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318238 |
| Start |
93132143:93132143(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3829C>A |
| AA Mutation |
p.Leu1277Ile(p.L1277I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318238 |
| Start |
93133177:93133177(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2795T>C |
| AA Mutation |
p.Val932Ala(p.V932A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318238 |
| Start |
93134696:93134696(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1276C>T |
| AA Mutation |
p.Pro426Ser(p.P426S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318238 |
| Start |
93134768:93134768(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1204C>A |
| AA Mutation |
p.Leu402Ile(p.L402I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318238 |
| Start |
93132773:93132773(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3199A>G |
| AA Mutation |
p.Ile1067Val(p.I1067V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318238 |
| Start |
93133489:93133489(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148587013
|
| CDS Mutation |
c.2483G>A |
| AA Mutation |
p.Arg828Gln(p.R828Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318238 |
| Start |
93134483:93134483(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1489T>C |
| AA Mutation |
p.Phe497Leu(p.F497L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318238 |
| Start |
93135506:93135506(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.466C>G |
| AA Mutation |
p.Leu156Val(p.L156V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000318238 |
| Start |
93132552:93132552(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3420C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000318238 |
| Start |
93133917:93133917(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2055A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000318238 |
| Start |
93132314:93132314(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3658G>T |
| AA Mutation |
p.Glu1220Ter(p.E1220*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|