| Mutation ID |
78 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000220888 |
| Start |
115415085:115415085(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2785-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
79 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000220888 |
| Start |
115414025:115414025(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3844T>C |
| AA Mutation |
p.Ter1282GlnextTer5(p.*1282Qext*5) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TRPS1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220888 |
| Start |
115604218:115604218(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1712T>A |
| AA Mutation |
p.Leu571His(p.L571H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220888 |
| Start |
115414121:115414121(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3748C>T |
| AA Mutation |
p.His1250Tyr(p.H1250Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220888 |
| Start |
115587315:115587315(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2347G>A |
| AA Mutation |
p.Glu783Lys(p.E783K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220888 |
| Start |
115414369:115414369(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3500C>T |
| AA Mutation |
p.Ala1167Val(p.A1167V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220888 |
| Start |
115587579:115587579(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2083C>T |
| AA Mutation |
p.Arg695Cys(p.R695C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220888 |
| Start |
115587471:115587471(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2191C>A |
| AA Mutation |
p.His731Asn(p.H731N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220888 |
| Start |
115620044:115620044(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.15G>T |
| AA Mutation |
p.Lys5Asn(p.K5N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220888 |
| Start |
115587398:115587398(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2264A>C |
| AA Mutation |
p.Lys755Thr(p.K755T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000220888 |
| Start |
115620011:115620011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757105545
|
| CDS Mutation |
c.48C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000220888 |
| Start |
115587484:115587484(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2178C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000220888 |
| Start |
115587103:115587103(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2559G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000220888 |
| Start |
115604178:115604178(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1752G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000220888 |
| Start |
115604100:115604100(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751550383
|
| CDS Mutation |
c.1830G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000220888 |
| Start |
115604040:115604040(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1890C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000220888 |
| Start |
115414113:115414113(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3756C>A |
| AA Mutation |
p.Cys1252Ter(p.C1252*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000220888 |
| Start |
115414817:115414817(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3052C>T |
| AA Mutation |
p.Gln1018Ter(p.Q1018*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000220888 |
| Start |
115418427:115418428(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2686dupT |
| AA Mutation |
p.Cys896LeufsTer42(p.C896Lfs*42) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000220888 |
| Start |
115414041:115414042(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3827dupA |
| AA Mutation |
p.Asn1276LysfsTer5(p.N1276Kfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000220888 |
| Start |
115620056:115620056(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3G>T |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |
|