Colon Cancer: Gene >> MACF1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39335673:39335673(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9100G>A
AA Mutation	p.Ala3034Thr(p.A3034T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39316425:39316425(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3499C>G
AA Mutation	p.Gln1167Glu(p.Q1167E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39388228:39388228(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs199851077
CDS Mutation	c.15401G>A
AA Mutation	p.Arg5134Gln(p.R5134Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39084397:39084397(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768273900
CDS Mutation	c.179C>T
AA Mutation	p.Ser60Leu(p.S60L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39283460:39283460(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.875C>T
AA Mutation	p.Ser292Leu(p.S292L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39334544:39334544(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7971C>A
AA Mutation	p.Phe2657Leu(p.F2657L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39379265:39379265(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.13354G>T
AA Mutation	p.Val4452Leu(p.V4452L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39452745:39452745(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs180745507
CDS Mutation	c.20372C>T
AA Mutation	p.Thr6791Met(p.T6791M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39334281:39334281(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7708C>A
AA Mutation	p.Leu2570Ile(p.L2570I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39422745:39422745(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.16009G>A
AA Mutation	p.Ala5337Thr(p.A5337T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39335823:39335823(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9250C>A
AA Mutation	p.Leu3084Ile(p.L3084I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39361655:39361655(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12764C>T
AA Mutation	p.Thr4255Ile(p.T4255I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39333718:39333718(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs143780983
CDS Mutation	c.7145G>A
AA Mutation	p.Arg2382His(p.R2382H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39257954:39257954(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.469C>T
AA Mutation	p.Arg157Cys(p.R157C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39310327:39310327(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369062828
CDS Mutation	c.3014G>A
AA Mutation	p.Arg1005His(p.R1005H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39435684:39435684(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.17599A>G
AA Mutation	p.Asn5867Asp(p.N5867D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000372915
Start	39283514:39283514(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs191298596
CDS Mutation	c.929C>T
AA Mutation	p.Thr310Met(p.T310M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39337282:39337282(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs374733161
CDS Mutation	c.10181C>A
AA Mutation	p.Pro3394His(p.P3394H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39434453:39434453(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.17293A>G
AA Mutation	p.Ser5765Gly(p.S5765G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39084252:39084252(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs186743740
CDS Mutation	c.34C>T
AA Mutation	p.Arg12Trp(p.R12W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39231188:39231188(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.227G>A
AA Mutation	p.Arg76Gln(p.R76Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39332181:39332181(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5608G>A
AA Mutation	p.Ala1870Thr(p.A1870T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39388395:39388395(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs560141221
CDS Mutation	c.15568C>T
AA Mutation	p.His5190Tyr(p.H5190Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39429958:39429958(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.16708A>G
AA Mutation	p.Thr5570Ala(p.T5570A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39439305:39439305(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.17949C>A
AA Mutation	p.Phe5983Leu(p.F5983L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39317373:39317373(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766885627
CDS Mutation	c.3763C>T
AA Mutation	p.Arg1255Cys(p.R1255C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39337195:39337195(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10094G>T
AA Mutation	p.Arg3365Leu(p.R3365L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39310851:39310851(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs764730015
CDS Mutation	c.3136G>A
AA Mutation	p.Ala1046Thr(p.A1046T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39468694:39468694(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.21530C>T
AA Mutation	p.Ala7177Val(p.A7177V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39387625:39387625(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.14798A>G
AA Mutation	p.Glu4933Gly(p.E4933G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39442290:39442290(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.18615G>T
AA Mutation	p.Glu6205Asp(p.E6205D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39458392:39458392(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs183077332
CDS Mutation	c.20795G>A
AA Mutation	p.Arg6932His(p.R6932H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39284172:39284172(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1037C>A
AA Mutation	p.Pro346His(p.P346H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39388498:39388498(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs371560140
CDS Mutation	c.15671G>A
AA Mutation	p.Arg5224His(p.R5224H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39331465:39331465(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs745526080
CDS Mutation	c.4892C>T
AA Mutation	p.Thr1631Ile(p.T1631I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39319730:39319730(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4027T>C
AA Mutation	p.Tyr1343His(p.Y1343H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39451084:39451084(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.19988C>T
AA Mutation	p.Ser6663Leu(p.S6663L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39433130:39433130(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.17228G>A
AA Mutation	p.Gly5743Glu(p.G5743E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39334321:39334321(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7748A>G
AA Mutation	p.Gln2583Arg(p.Q2583R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	40
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39458413:39458413(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.20816G>A
AA Mutation	p.Arg6939Gln(p.R6939Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	41
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39300294:39300294(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs536718734
CDS Mutation	c.2581C>T
AA Mutation	p.Arg861Cys(p.R861C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	42
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39451071:39451071(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.19975G>T
AA Mutation	p.Ala6659Ser(p.A6659S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	43
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39448702:39448702(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.19894G>C
AA Mutation	p.Asp6632His(p.D6632H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	44
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39461910:39461910(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.21248C>T
AA Mutation	p.Thr7083Ile(p.T7083I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	45
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39379209:39379209(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs139081523
CDS Mutation	c.13298C>T
AA Mutation	p.Thr4433Met(p.T4433M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	46
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39459155:39459155(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758006304
CDS Mutation	c.20963G>A
AA Mutation	p.Arg6988Gln(p.R6988Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	47
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39333659:39333659(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7086G>T
AA Mutation	p.Glu2362Asp(p.E2362D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	48
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39336232:39336232(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9659G>A
AA Mutation	p.Ser3220Asn(p.S3220N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	49
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39448738:39448738(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.19930A>G
AA Mutation	p.Thr6644Ala(p.T6644A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	50
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39293616:39293616(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2166C>A
AA Mutation	p.Phe722Leu(p.F722L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	51
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39336235:39336235(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9662A>G
AA Mutation	p.Lys3221Arg(p.K3221R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	52
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39350836:39350836(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11032A>G
AA Mutation	p.Lys3678Glu(p.K3678E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	53
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39387861:39387861(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.15034G>C
AA Mutation	p.Glu5012Gln(p.E5012Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	54
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39331924:39331924(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5351G>T
AA Mutation	p.Arg1784Ile(p.R1784I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	55
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000372915
Start	39436483:39436483(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.17678T>G
AA Mutation	p.Ile5893Ser(p.I5893S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	56
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39441051:39441051(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747312905
CDS Mutation	c.18193C>T
AA Mutation	p.Arg6065Trp(p.R6065W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	57
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39300246:39300246(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs769186880
CDS Mutation	c.2533G>A
AA Mutation	p.Val845Ile(p.V845I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	58
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39359175:39359175(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.12170C>A
AA Mutation	p.Pro4057His(p.P4057H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	59
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39332887:39332887(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6314A>T
AA Mutation	p.Lys2105Ile(p.K2105I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	60
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39453797:39453797(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.20530T>C
AA Mutation	p.Cys6844Arg(p.C6844R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	61
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39285349:39285349(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1327T>C
AA Mutation	p.Cys443Arg(p.C443R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	62
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39460683:39460683(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747182535
CDS Mutation	c.21109C>T
AA Mutation	p.Arg7037Cys(p.R7037C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	63
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39422415:39422415(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.15873G>T
AA Mutation	p.Leu5291Phe(p.L5291F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	64
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39297630:39297630(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2381A>G
AA Mutation	p.Asp794Gly(p.D794G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	65
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39336364:39336364(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs373244652
CDS Mutation	c.9791T>C
AA Mutation	p.Val3264Ala(p.V3264A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	66
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39442744:39442744(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.18832G>A
AA Mutation	p.Ala6278Thr(p.A6278T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	67
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39422804:39422804(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.16068G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	68
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39283413:39283413(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.828G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	69
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39335861:39335861(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9288A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	70
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39322652:39322652(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756249341
CDS Mutation	c.4089G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	71
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39353141:39353141(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11349C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	72
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39310886:39310886(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3171G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	73
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39388094:39388094(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.15267T>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	74
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39357707:39357707(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11772G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	75
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39455055:39455055(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs147729421
CDS Mutation	c.20730G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	76
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39357638:39357638(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs759958022
CDS Mutation	c.11703C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	77
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39441229:39441229(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.18273T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	78
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39447769:39447769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.19536T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	79
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39309630:39309630(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2865A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	80
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39336335:39336335(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9762T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	81
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39434488:39434488(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.17328G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	82
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39479928:39479928(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.21699T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	83
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39310925:39310925(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3210A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	84
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39437890:39437890(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766713562
CDS Mutation	c.17799C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	85
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39382080:39382080(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13791A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	86
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39333230:39333230(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6657G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	87
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39485758:39485758(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.22131C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	88
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000372915
Start	39303040:39303040(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2771delC
AA Mutation	p.Pro924HisfsTer52(p.P924Hfs*52)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	89
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000372915
Start	39334685:39334685(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.8116delA
AA Mutation	p.Arg2706AspfsTer2(p.R2706Dfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	90
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000372915
Start	39387507:39387507(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs775539898
CDS Mutation	c.14686delA
AA Mutation	p.Thr4896LeufsTer29(p.T4896Lfs*29)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	91
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000372915
Start	39388486:39388486(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.15663delG
AA Mutation	p.Ala5223LeufsTer8(p.A5223Lfs*8)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	92
Mutation Consequence	stop_gained
Transcription ID	ENST00000372915
Start	39335430:39335430(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8857G>T
AA Mutation	p.Glu2953Ter(p.E2953*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	93
Mutation Consequence	stop_gained
Transcription ID	ENST00000372915
Start	39335175:39335175(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8602G>T
AA Mutation	p.Glu2868Ter(p.E2868*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	94
Mutation Consequence	stop_gained
Transcription ID	ENST00000372915
Start	39353124:39353124(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11332C>T
AA Mutation	p.Gln3778Ter(p.Q3778*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	95
Mutation Consequence	stop_gained
Transcription ID	ENST00000372915
Start	39310248:39310248(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2935C>T
AA Mutation	p.Arg979Ter(p.R979*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	96
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000372915
Start	39333036:39333037(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.6469dupT
AA Mutation	p.Ser2157PhefsTer3(p.S2157Ffs*3)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	97
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000372915
Start	39387292:39387293(version: GRCh38)
Mutation Type	INS
dbSNP_RS	null
CDS Mutation	c.14471dupA
AA Mutation	p.Asn4824LysfsTer19(p.N4824Kfs*19)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	98
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000372915
Start	39442912:39442912(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.18999+1G>A
Mutation Classification	Splice_Site
Feature Type	Transcript

Rectum Cancer: Gene >> MACF1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39357837:39357837(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11902T>G
AA Mutation	p.Leu3968Val(p.L3968V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39084253:39084253(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200446050
CDS Mutation	c.35G>A
AA Mutation	p.Arg12Gln(p.R12Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39332236:39332236(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs754832938
CDS Mutation	c.5663G>A
AA Mutation	p.Arg1888Gln(p.R1888Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39332344:39332344(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs150440643
CDS Mutation	c.5771C>T
AA Mutation	p.Ser1924Leu(p.S1924L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39334074:39334074(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765652457
CDS Mutation	c.7501C>T
AA Mutation	p.Arg2501Cys(p.R2501C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39282306:39282306(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.642C>G
AA Mutation	p.Ile214Met(p.I214M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39447815:39447815(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs369605640
CDS Mutation	c.19582G>A
AA Mutation	p.Val6528Met(p.V6528M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39387601:39387601(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14774A>C
AA Mutation	p.Glu4925Ala(p.E4925A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39387602:39387602(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14775A>T
AA Mutation	p.Glu4925Asp(p.E4925D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39318519:39318519(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3864C>G
AA Mutation	p.Ile1288Met(p.I1288M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39293513:39293513(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2063G>A
AA Mutation	p.Arg688Lys(p.R688K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39293616:39293616(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2166C>A
AA Mutation	p.Phe722Leu(p.F722L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39324266:39324266(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4325C>T
AA Mutation	p.Ala1442Val(p.A1442V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39335402:39335402(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8829T>G
AA Mutation	p.Asn2943Lys(p.N2943K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39283460:39283460(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.875C>T
AA Mutation	p.Ser292Leu(p.S292L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39322651:39322651(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752989702
CDS Mutation	c.4088C>T
AA Mutation	p.Ser1363Leu(p.S1363L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	17
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39334198:39334198(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7625G>T
AA Mutation	p.Arg2542Ile(p.R2542I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	18
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39357407:39357407(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11472A>C
AA Mutation	p.Gln3824His(p.Q3824H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	19
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39385525:39385525(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13955C>A
AA Mutation	p.Ser4652Tyr(p.S4652Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	20
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39387783:39387783(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs766474090
CDS Mutation	c.14956C>T
AA Mutation	p.Arg4986Trp(p.R4986W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	21
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39427565:39427565(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.16442C>A
AA Mutation	p.Pro5481His(p.P5481H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	22
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39257964:39257964(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.479A>C
AA Mutation	p.Asp160Ala(p.D160A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	23
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39335823:39335823(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9250C>A
AA Mutation	p.Leu3084Ile(p.L3084I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	24
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39336452:39336452(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9879G>T
AA Mutation	p.Gln3293His(p.Q3293H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	25
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39439482:39439482(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.18126A>C
AA Mutation	p.Gln6042His(p.Q6042H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	26
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39452697:39452697(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.20324G>A
AA Mutation	p.Arg6775Gln(p.R6775Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	27
Mutation Consequence	missense_variant
Transcription ID	ENST00000372915
Start	39353197:39353197(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11405C>T
AA Mutation	p.Pro3802Leu(p.P3802L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	28
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39322619:39322619(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4056G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	29
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39322661:39322661(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4098A>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	30
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39334568:39334568(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs756390211
CDS Mutation	c.7995C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	31
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39387326:39387326(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.14499G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	32
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39388064:39388064(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.15237G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	33
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39447814:39447814(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs758368919
CDS Mutation	c.19581C>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	34
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39327287:39327287(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4563T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	35
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39333572:39333572(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6999G>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	36
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000372915
Start	39442540:39442540(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.18774C>A
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	37
Mutation Consequence	stop_gained
Transcription ID	ENST00000372915
Start	39282367:39282367(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.703C>T
AA Mutation	p.Arg235Ter(p.R235*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

Mutation ID	38
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000372915
Start	39378472:39378473(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.13240_13241insA
AA Mutation	p.Pro4414HisfsTer25(p.P4414Hfs*25)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Mutation ID	39
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000372915
Start	39340661:39340662(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.10390_10391insTT
AA Mutation	p.Ser3464IlefsTer18(p.S3464Ifs*18)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript