| Mutation ID |
98 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152314408:152314409(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs779619110
|
| CDS Mutation |
c.477dupA |
| AA Mutation |
p.Glu160ArgfsTer10(p.E160Rfs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
99 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000368799 |
| Start |
152303851:152303852(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.11034_11035insCGAATG |
| AA Mutation |
p.Ser3678_Val3679insArgMet(p.S3678_V3679insRM) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FLG
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152312073:152312073(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141646551
|
| CDS Mutation |
c.2813C>G |
| AA Mutation |
p.Thr938Arg(p.T938R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152305009:152305009(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9877C>G |
| AA Mutation |
p.Gln3293Glu(p.Q3293E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152304418:152304418(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs113933537
|
| CDS Mutation |
c.10468C>T |
| AA Mutation |
p.Arg3490Cys(p.R3490C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152311390:152311390(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3496C>T |
| AA Mutation |
p.Arg1166Cys(p.R1166C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152313652:152313652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1234C>T |
| AA Mutation |
p.Arg412Cys(p.R412C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152304996:152304996(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9890G>T |
| AA Mutation |
p.Ser3297Ile(p.S3297I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152304972:152304972(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147439082
|
| CDS Mutation |
c.9914G>A |
| AA Mutation |
p.Arg3305His(p.R3305H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152309604:152309604(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5282G>A |
| AA Mutation |
p.Arg1761His(p.R1761H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152311657:152311657(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs557910401
|
| CDS Mutation |
c.3229C>T |
| AA Mutation |
p.His1077Tyr(p.H1077Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152308316:152308316(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6570C>A |
| AA Mutation |
p.Ser2190Arg(p.S2190R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152305617:152305617(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs553781249
|
| CDS Mutation |
c.9269G>A |
| AA Mutation |
p.Arg3090His(p.R3090H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152311135:152311135(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3751C>A |
| AA Mutation |
p.Gln1251Lys(p.Q1251K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152315365:152315365(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.92A>T |
| AA Mutation |
p.Lys31Ile(p.K31I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152311421:152311421(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3465C>A |
| AA Mutation |
p.His1155Gln(p.H1155Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152310478:152310478(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757429282
|
| CDS Mutation |
c.4408C>A |
| AA Mutation |
p.His1470Asn(p.H1470N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152303710:152303710(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145171931
|
| CDS Mutation |
c.11176C>T |
| AA Mutation |
p.Arg3726Trp(p.R3726W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152308477:152308477(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6409A>C |
| AA Mutation |
p.Thr2137Pro(p.T2137P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152309209:152309209(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780992659
|
| CDS Mutation |
c.5677G>A |
| AA Mutation |
p.Asp1893Asn(p.D1893N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152309218:152309218(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5668T>C |
| AA Mutation |
p.Ser1890Pro(p.S1890P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152304823:152304823(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.10063G>C |
| AA Mutation |
p.Val3355Leu(p.V3355L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152307525:152307525(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs553191250
|
| CDS Mutation |
c.7361C>T |
| AA Mutation |
p.Thr2454Met(p.T2454M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152303760:152303760(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.11126C>A |
| AA Mutation |
p.Ser3709Tyr(p.S3709Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152304087:152304087(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.10799C>T |
| AA Mutation |
p.Thr3600Ile(p.T3600I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152308263:152308263(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs80152591
|
| CDS Mutation |
c.6623C>T |
| AA Mutation |
p.Ser2208Leu(p.S2208L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152310879:152310879(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4007C>T |
| AA Mutation |
p.Ser1336Phe(p.S1336F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152312046:152312046(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2840G>A |
| AA Mutation |
p.Ser947Asn(p.S947N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152312220:152312220(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2666C>T |
| AA Mutation |
p.Ser889Phe(p.S889F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152315333:152315333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138819199
|
| CDS Mutation |
c.124C>T |
| AA Mutation |
p.Arg42Trp(p.R42W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152307598:152307598(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140376327
|
| CDS Mutation |
c.7288C>T |
| AA Mutation |
p.Arg2430Trp(p.R2430W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
30 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152312152:152312152(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147145635
|
| CDS Mutation |
c.2734C>T |
| AA Mutation |
p.Arg912Cys(p.R912C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152311243:152311243(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3643A>C |
| AA Mutation |
p.Ser1215Arg(p.S1215R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152314576:152314576(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.310C>T |
| AA Mutation |
p.His104Tyr(p.H104Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152312351:152312351(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148002225
|
| CDS Mutation |
c.2535G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
34 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152307329:152307329(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs113878714
|
| CDS Mutation |
c.7557C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
35 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152311202:152311202(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370746166
|
| CDS Mutation |
c.3684C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
36 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152307524:152307524(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144122917
|
| CDS Mutation |
c.7362G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
37 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152307275:152307275(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7611T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
38 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152303114:152303114(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.11772C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
39 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152313332:152313332(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1554A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
40 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000368799 |
| Start |
152310521:152310521(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142950612
|
| CDS Mutation |
c.4365C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
41 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000368799 |
| Start |
152303082:152303082(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.11804C>A |
| AA Mutation |
p.Ser3935Ter(p.S3935*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
42 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000368799 |
| Start |
152308792:152308792(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6094A>T |
| AA Mutation |
p.Arg2032Ter(p.R2032*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
43 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000368799 |
| Start |
152306081:152306082(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8799_8804dupTCAAGA |
| AA Mutation |
p.Gln2934_Glu2935insAspGln(p.Q2934_E2935insDQ) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
|