Primary Site >> Esophagus Cancer

Gene >> MUC16

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8963052:8963052(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13718G>T
AA Mutation p.Ser4573Ile(p.S4573I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8861008:8861008(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.42908A>G
AA Mutation p.His14303Arg(p.H14303R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956236:8956236(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780491549
CDS Mutation c.20534C>T
AA Mutation p.Thr6845Ile(p.T6845I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8962501:8962501(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752575324
CDS Mutation c.14269C>T
AA Mutation p.Pro4757Ser(p.P4757S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8964781:8964781(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11989A>C
AA Mutation p.Thr3997Pro(p.T3997P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8962582:8962582(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14188G>A
AA Mutation p.Asp4730Asn(p.D4730N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8966397:8966397(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748481060
CDS Mutation c.10373C>T
AA Mutation p.Thr3458Ile(p.T3458I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8980807:8980807(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.332G>A
AA Mutation p.Gly111Glu(p.G111E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973406:8973406(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7733C>A
AA Mutation p.Pro2578Gln(p.P2578Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8899989:8899989(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38996C>T
AA Mutation p.Ser12999Phe(p.S12999F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956947:8956947(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746016038
CDS Mutation c.19823C>T
AA Mutation p.Ser6608Leu(p.S6608L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8892912:8892912(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369380417
CDS Mutation c.40052C>T
AA Mutation p.Thr13351Met(p.T13351M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8947102:8947102(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.29668T>G
AA Mutation p.Ser9890Ala(p.S9890A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8953587:8953587(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.23183C>G
AA Mutation p.Thr7728Ser(p.T7728S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8946612:8946612(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.30158T>C
AA Mutation p.Leu10053Pro(p.L10053P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8959455:8959455(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17315T>G
AA Mutation p.Ile5772Ser(p.I5772S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8949096:8949096(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.27674T>C
AA Mutation p.Met9225Thr(p.M9225T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8979340:8979340(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1799C>T
AA Mutation p.Thr600Ile(p.T600I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973049:8973049(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780829182
CDS Mutation c.8090T>C
AA Mutation p.Leu2697Pro(p.L2697P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8951795:8951795(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24975G>C
AA Mutation p.Leu8325Phe(p.L8325F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8973032:8973032(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8107A>C
AA Mutation p.Ser2703Arg(p.S2703R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8955384:8955384(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21386T>G
AA Mutation p.Leu7129Arg(p.L7129R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8958200:8958200(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761713163
CDS Mutation c.18570T>G
AA Mutation p.Asp6190Glu(p.D6190E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8959389:8959389(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17381A>C
AA Mutation p.Asn5794Thr(p.N5794T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8974843:8974843(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6296C>A
AA Mutation p.Ser2099Tyr(p.S2099Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975302:8975302(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5837T>G
AA Mutation p.Val1946Gly(p.V1946G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8962500:8962500(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14270C>A
AA Mutation p.Pro4757His(p.P4757H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8964453:8964453(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12317G>C
AA Mutation p.Ser4106Thr(p.S4106T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8936427:8936427(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.34528T>C
AA Mutation p.Ser11510Pro(p.S11510P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975035:8975035(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6104T>G
AA Mutation p.Leu2035Arg(p.L2035R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8975854:8975854(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5285T>G
AA Mutation p.Phe1762Cys(p.F1762C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8958691:8958691(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18079T>C
AA Mutation p.Ser6027Pro(p.S6027P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8978367:8978367(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2772C>A
AA Mutation p.Ser924Arg(p.S924R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8974669:8974669(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6470C>A
AA Mutation p.Ser2157Tyr(p.S2157Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8955921:8955921(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20849C>A
AA Mutation p.Thr6950Asn(p.T6950N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8965690:8965690(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11080A>C
AA Mutation p.Ser3694Arg(p.S3694R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8971732:8971732(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9407G>A
AA Mutation p.Arg3136Lys(p.R3136K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8956877:8956877(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.19893C>A
AA Mutation p.Asp6631Glu(p.D6631E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8908617:8908617(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.37594T>C
AA Mutation p.Ser12532Pro(p.S12532P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8963392:8963392(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13378T>A
AA Mutation p.Leu4460Met(p.L4460M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8954200:8954200(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.22570C>A
AA Mutation p.Pro7524Thr(p.P7524T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8952397:8952397(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24373A>C
AA Mutation p.Lys8125Gln(p.K8125Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 43
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000397910
Start 8904708:8904708(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.38204T>G
AA Mutation p.Leu12735Arg(p.L12735R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8965110:8965110(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11660A>C
AA Mutation p.Asn3887Thr(p.N3887T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000397910
Start 8974174:8974174(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6965C>T
AA Mutation p.Ala2322Val(p.A2322V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8952569:8952569(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24201A>G
Mutation Classification Silent
Feature Type Transcript
ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8894534:8894534(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.39867T>G
Mutation Classification Silent
Feature Type Transcript
ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8956334:8956334(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20436T>A
Mutation Classification Silent
Feature Type Transcript
ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8956286:8956286(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20484T>C
Mutation Classification Silent
Feature Type Transcript
ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8960243:8960243(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16527T>G
Mutation Classification Silent
Feature Type Transcript
ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8959997:8959997(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16773A>T
Mutation Classification Silent
Feature Type Transcript
ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8978625:8978625(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2514C>T
Mutation Classification Silent
Feature Type Transcript
ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8938786:8938786(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.32169T>C
Mutation Classification Silent
Feature Type Transcript
ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8952905:8952905(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.23865G>A
Mutation Classification Silent
Feature Type Transcript
ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8953592:8953592(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762167753
CDS Mutation c.23178G>A
Mutation Classification Silent
Feature Type Transcript
ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8953634:8953634(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs558504850
CDS Mutation c.23136C>A
Mutation Classification Silent
Feature Type Transcript
ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8937547:8937547(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.33408A>G
Mutation Classification Silent
Feature Type Transcript
ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8959238:8959238(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17532C>A
Mutation Classification Silent
Feature Type Transcript
ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8962298:8962298(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751538389
CDS Mutation c.14472G>A
Mutation Classification Silent
Feature Type Transcript
ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8975655:8975655(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5484A>T
Mutation Classification Silent
Feature Type Transcript
ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8957594:8957594(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.19176T>C
Mutation Classification Silent
Feature Type Transcript
ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8948378:8948378(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751502909
CDS Mutation c.28392T>G
Mutation Classification Silent
Feature Type Transcript
ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8960429:8960429(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16341G>A
Mutation Classification Silent
Feature Type Transcript
ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8965295:8965295(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11475A>T
Mutation Classification Silent
Feature Type Transcript
ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8962925:8962925(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13845T>G
Mutation Classification Silent
Feature Type Transcript
ID 66
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8935012:8935012(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.35943A>G
Mutation Classification Silent
Feature Type Transcript
ID 67
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8979189:8979189(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375827972
CDS Mutation c.1950C>T
Mutation Classification Silent
Feature Type Transcript
ID 68
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8937822:8937822(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.33133C>T
Mutation Classification Silent
Feature Type Transcript
ID 69
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8939077:8939077(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.31878T>C
Mutation Classification Silent
Feature Type Transcript
ID 70
Mutation Consequence synonymous_variant
Transcription ID ENST00000397910
Start 8979810:8979810(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1329T>A
Mutation Classification Silent
Feature Type Transcript
ID 71
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8979629:8979629(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1510delG
AA Mutation p.Asp504ThrfsTer3(p.D504Tfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 72
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8963271:8963271(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.13499delG
AA Mutation p.Ser4500ThrfsTer5(p.S4500Tfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 73
Mutation Consequence stop_gained
Transcription ID ENST00000397910
Start 8973949:8973949(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7190C>G
AA Mutation p.Ser2397Ter(p.S2397*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 74
Mutation Consequence frameshift_variant
Transcription ID ENST00000397910
Start 8954746:8954747(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.22023dupT
AA Mutation p.Thr7342TyrfsTer32(p.T7342Yfs*32)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 75
Mutation Consequence inframe_insertion
Transcription ID ENST00000397910
Start 8966136:8966137(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.10631_10633dupCCA
AA Mutation p.Thr3544dup(p.T3544dup)
Mutation Classification In_Frame_Ins
Feature Type Transcript