PMID: 30602096

Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer.

Genomics & informatics
KA Yoon, SM Woo, YH Kim, SY Kong, SS Han, SJ Park, WJ Lee
2018-12

250 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-35825639-C-T TADA2A c.817C>T p.His273Tyr Missense 11/16 -
20-5282862-T-A PROKR2 c.979A>T p.Met327Leu Missense 3/3 -
20-5294877-G-A PROKR2 c.139C>T p.Arg47Trp Missense 2/3 -
19-51135883-C-T SYT3 c.334G>A p.Gly112Arg Missense 2/9 -
9-124329507-G-A DAB2IP c.40G>A p.Glu14Lys Missense 1/17 -
3-58120357-A-G FLNB c.4529A>G p.Lys1510Arg Missense 27/46 -
19-35617610-C-T LGI4 c.863G>A p.Trp288* Nonsense 8/9 -
8-95183115-C-G CDH17 c.882G>C p.Val294Val Synonymous 8/18 -
7-138603515-CG-TA KIAA1549 c.856_857delCGinsTA p.Arg286* Nonsense 2/20 -
5-112179240-C-G APC c.7949C>G p.Ala2650Gly Missense 16/16 -
1-27099849-A-T ARID1A c.3728A>T p.Asp1243Val Missense 15/20 -
7-1542687-T-C INTS1 c.199A>G p.Ser67Gly Missense 3/48 -
5-112170745-C-T APC c.1841C>T p.Ala614Val Missense 15/16 -
11-26568996-T-G ANO3 c.1188T>G p.Phe396Leu Missense 12/27 -
11-26463544-G-C ANO3 c.126G>C p.Gln42His Missense 2/27 -
1-27023873-A-T ARID1A c.979A>T p.Lys327* Nonsense 1/20 -
13-48942710-T-G RB1 c.1097T>G p.Val366Gly Missense 11/27 -
7-73462841-C-T ELN c.754C>T p.Pro252Ser Missense 15/33 -
14-68270965-T-A ZFYVE26 c.1288A>T p.Arg430* Nonsense 9/42 -
7-73457477-G-T ELN c.406G>T p.Val136Leu Missense 8/33 -
2-25471040-C-T DNMT3A c.721G>A p.Glu241Lys Missense 7/23 -
1-27023174-C-T ARID1A c.280C>T p.Pro94Ser Missense 1/20 -
12-40748190-T-A LRRK2 c.6666T>A p.Gly2222Gly Synonymous 45/51 -
7-75182874-A-G HIP1 c.2173T>C p.Cys725Arg Missense 22/31 -
15-41364199-T-G INO80 c.1453A>C p.Asn485His Missense 12/36 -
3-58140559-CTC-ATG FLNB c.6676_6678delCTCinsATG p.Leu2226Met Missense 40/46 -
1-27097704-A-T ARID1A c.3293A>T p.Gln1098Leu Missense 12/20 -
8-95182670-G-C CDH17 c.1021C>G p.Pro341Ala Missense 9/18 -
5-170148867-A-T KCNIP1 c.362A>T p.Asn121Ile Missense 4/8 -
1-27089565-A-C ARID1A c.2521A>C p.Met841Leu Missense 8/20 -
7-4026948-G-C SDK1 c.2125G>C p.Glu709Gln Missense 14/45 -
1-115252231-A-T NRAS c.409T>A p.Tyr137Asn Missense 4/7 -
2-206920990-C-T INO80D c.896G>A p.Arg299Gln Missense 4/11 -
15-41346188-A-G INO80 c.2213T>C p.Ile738Thr Missense 19/36 -
3-38639357-C-G SCN5A c.2125G>C p.Gly709Arg Missense 14/28 -
20-30419645-G-A MYLK2 c.1564G>A p.Val522Ile Missense 11/13 -
9-95738639-C-T FGD3 c.101C>T p.Ala34Val Missense 3/18 -
6-151054873-C-T PLEKHG1 c.56C>T p.Ala19Val Missense 3/17 -
7-73460523-G-A ELN c.547G>A p.Gly183Ser Missense 11/33 -
3-188326976-C-T LPP c.457C>T p.Pro153Ser Missense 6/11 -
7-75221832-G-A HIP1 c.185C>T p.Thr62Met Missense 3/31 -
19-8190788-G-A FBN3 c.2719C>T p.Arg907Trp Missense 22/64 -
7-75368162-G-A HIP1 c.77C>T p.Ala26Val Missense 1/31 -
17-7578515-T-C TP53 c.415A>G p.Lys139Glu Missense 5/11 -
1-236899007-C-T ACTN2 c.770C>T p.Ala257Val Missense 8/21 -
7-73471988-C-T ELN c.1376C>T p.Ala459Val Missense 22/33 -
7-1526299-C-G INTS1 c.2938G>C p.Gly980Arg Missense 22/48 -
8-95172324-C-T CDH17 c.1426G>A p.Asp476Asn Missense 12/18 -
12-124341718-G-A DNAH10 c.6200G>A p.Arg2067His Missense 36/78 -
17-49296318-A-C MBTD1 c.376T>G p.Leu126Val Missense 5/17 -
17-7574003-G-A TP53 c.1024C>T p.Arg342* Nonsense 10/11 -
8-88249206-G-A CNBD1 c.637G>A p.Val213Met Missense 6/11 -
20-36784455-C-A TGM2 c.227G>T p.Arg76Leu Missense 3/10 -
5-112176372-G-C APC c.5081G>C p.Gly1694Ala Missense 16/16 -
3-38639431-G-A SCN5A c.2051C>T p.Pro684Leu Missense 14/28 -
8-99440299-G-A KCNS2 c.92G>A p.Arg31His Missense 2/2 -
12-52376522-C-A ACVR1B c.864C>A p.Ala288Ala Synonymous 5/10 -
7-73474790-C-G ELN c.1706C>G p.Pro569Arg Missense 25/33 -
2-164466238-C-G FIGN c.2104G>C p.Val702Leu Missense 3/3 -
5-112162849-A-C APC c.1453A>C p.Met485Leu Missense 12/16 -
8-131949376-C-T ADCY8 c.1424G>A p.Arg475His Missense 5/18 -
17-7577056-C-G TP53 c.882G>C p.Glu294Asp Missense 8/11 -
20-30408256-G-A MYLK2 c.380G>A p.Arg127Lys Missense 3/13 -
1-27092764-C-A ARID1A c.2785C>A p.Pro929Thr Missense 9/20 -
13-48953773-C-T RB1 c.1376C>T p.Ser459Phe Missense 14/27 -
2-206882424-C-A INO80D c.1522G>T p.Glu508* Nonsense 8/11 -
1-110884557-G-A RBM15 c.2530G>A p.Glu844Lys Missense 1/3 -
14-68220440-G-T ZFYVE26 c.7172C>A p.Ala2391Asp Missense 39/42 -
12-40728902-C-T LRRK2 c.5891C>T p.Ala1964Val Missense 40/51 -
2-141004693-G-T LRP1B c.13286C>A p.Pro4429Gln Missense 87/91 -
7-73457469-G-T ELN c.398G>T p.Gly133Val Missense 8/33 -
7-75221421-C-T HIP1 c.337G>A p.Asp113Asn Missense 4/31 -
7-75178290-G-A HIP1 c.2305C>T p.Pro769Ser Missense 23/31 -
1-110882041-G-T RBM15 c.14G>T p.Gly5Val Missense 1/3 -
1-20811734-G-A CAMK2N1 c.139C>T p.Leu47Leu Synonymous 1/2 -
8-95178175-C-T CDH17 c.1096G>A p.Asp366Asn Missense 10/18 -
6-151117016-C-T PLEKHG1 c.607C>T p.Gln203* Nonsense 6/17 -
7-73456997-G-T ELN c.286G>T p.Val96Leu Missense 6/33 -
1-156851340-G-A NTRK1 c.2297G>A p.Arg766Gln Missense 17/17 -
1-20810156-G-A CAMK2N1 c.223C>T p.Pro75Ser Missense 2/2 -
3-38645514-C-T SCN5A c.1579G>A p.Gly527Arg Missense 12/28 -
5-170148800-C-T KCNIP1 c.295C>T p.Leu99Leu Synonymous 4/8 -
15-41379858-C-G INO80 c.560G>C p.Ser187Thr Missense 6/36 -
5-115298621-G-A LVRN c.307G>A p.Val103Met Missense 1/20 -
2-25505349-A-T DNMT3A c.409T>A p.Cys137Ser Missense 4/23 -
7-4009048-C-G SDK1 c.1706C>G p.Thr569Ser Missense 11/45 -
7-73474323-G-T ELN c.1522G>T p.Gly508Cys Missense 23/33 -
5-32395347-C-T ZFR c.1897G>A p.Glu633Lys Missense 11/20 -
1-115256500-A-C NRAS c.211T>G p.Tyr71Asp Missense 3/7 -
20-5283234-G-A PROKR2 c.607C>T p.Gln203* Nonsense 3/3 -
21-41559851-C-T DSCAM c.2617G>A p.Glu873Lys Missense 13/33 -
1-27023020-G-C ARID1A c.126G>C p.Ala42Ala Synonymous 1/20 -
7-73474227-G-A ELN c.1426G>A p.Gly476Ser Missense 23/33 -
10-82271948-T-G TSPAN14 c.499T>G p.Tyr167Asp Missense 6/9 -
8-95161052-G-A CDH17 c.1847C>T p.Thr616Ile Missense 14/18 -
1-27022943-C-T ARID1A c.49C>T p.Pro17Ser Missense 1/20 -
21-31914024-G-T KRTAP19-6 c.129C>A p.Cys43* Nonsense 1/1 -
7-138665871-G-C KIAA1549 c.145C>G p.Leu49Val Missense 1/20 -
2-206870153-C-A INO80D c.2023G>T p.Ala675Ser Missense 11/11 -
1-16475487-C-T EPHA2 c.209G>A p.Cys70Tyr Missense 3/17 -
3-38663918-T-A SCN5A c.455A>T p.Asp152Val Missense 4/28 -
7-73455576-G-T ELN c.227G>T p.Gly76Val Missense 5/33 -
17-25967719-G-C LGALS9 c.253G>C p.Glu85Gln Missense 3/11 -
1-115258683-A-T NRAS c.99T>A p.Asp33Glu Missense 2/7 -
1-27023037-G-T ARID1A c.143G>T p.Gly48Val Missense 1/20 -
7-75187034-G-A HIP1 c.1505C>T p.Ala502Val Missense 16/31 -
2-25464475-T-C DNMT3A c.2038A>G p.Lys680Glu Missense 17/23 -
13-58207860-G-A PCDH17 c.1180G>A p.Gly394Arg Missense 1/4 -
6-151151980-A-T PLEKHG1 c.1733A>T p.Glu578Val Missense 16/17 -
12-40689336-G-T LRRK2 c.2986G>T p.Asp996Tyr Missense 23/51 -
13-49039417-G-C RB1 c.2402G>C p.Gly801Ala Missense 23/27 -
3-38620878-C-T SCN5A c.3337G>A p.Ala1113Thr Missense 18/28 -
5-112151213-C-T APC c.856C>T p.His286Tyr Missense 9/16 -
5-112174192-C-A APC c.2901C>A p.Val967Val Synonymous 16/16 -
10-101591752-C-T ABCC2 c.3122C>T p.Ala1041Val Missense 23/32 -
7-138603921-C-T KIAA1549 c.451G>A p.Ala151Thr Missense 2/20 -
8-121292323-G-A COL14A1 c.3631G>A p.Glu1211Lys Missense 29/48 -
17-7577605-C-T TP53 c.676G>A p.Gly226Ser Missense 7/11 -
19-8190787-C-A FBN3 c.2720G>T p.Arg907Leu Missense 22/64 -
5-170159850-A-G KCNIP1 c.557A>G p.Tyr186Cys Missense 6/8 -
7-73461047-C-T ELN c.593C>T p.Pro198Leu Missense 12/33 -
1-16456034-C-A EPHA2 c.2720G>T p.Arg907Leu Missense 16/17 -
2-25470528-T-C DNMT3A c.946A>G p.Thr316Ala Missense 8/23 -
9-133493210-G-A FUBP3 c.594G>A p.Met198Ile Missense 8/19 -
5-153855452-G-T HAND1 c.562C>A p.Pro188Thr Missense 2/2 -
7-75189111-G-A HIP1 c.1300C>T p.Arg434Trp Missense 14/31 -
19-35616121-A-T LGI4 c.1590T>A p.His530Gln Missense 9/9 -
2-25470017-T-C DNMT3A c.1025A>G p.Glu342Gly Missense 9/23 -
8-95160990-C-T CDH17 c.1909G>A p.Val637Met Missense 14/18 -
21-31852374-C-T KRTAP19-1 c.263G>A p.Gly88Asp Missense 1/1 -
7-75221706-C-A HIP1 c.311G>T p.Arg104Leu Missense 3/31 -
19-1457029-G-A APC2 c.994G>A p.Ala332Thr Missense 9/15 -
7-138603347-T-C KIAA1549 c.1025A>G p.Tyr342Cys Missense 2/20 -
5-112179486-A-T APC c.8195A>T p.Asp2732Val Missense 16/16 -
19-31769019-C-G TSHZ3 c.1680G>C p.Met560Ile Missense 2/2 -
7-69364311-C-T AUTS2 c.349C>T p.Arg117Cys Missense 2/18 -
7-73477690-G-A ELN c.1909G>A p.Ala637Thr Missense 28/33 -
6-151152904-G-A PLEKHG1 c.2657G>A p.Arg886His Missense 16/17 -
3-38645252-G-A SCN5A c.1841C>T p.Pro614Leu Missense 12/28 -
11-26463533-T-C ANO3 c.115T>C p.Cys39Arg Missense 2/27 -
2-25467195-C-G DNMT3A c.1680G>C p.Val560Val Synonymous 15/23 -
15-66727495-A-G MAP2K1 c.211A>G p.Ile71Val Missense 2/11 -
1-27023835-GG-G ARID1A c.941delG p.Gly314Alafs*49 Frameshift 1/20 -
17-25974140-C-T LGALS9 c.754C>T p.Gln252* Nonsense 9/11 -
7-73461095-C-A ELN c.641C>A p.Pro214His Missense 12/33 -
19-8210792-C-T FBN3 c.380G>A p.Gly127Glu Missense 5/64 -
19-8201283-C-T FBN3 c.1334G>A p.Gly445Asp Missense 11/64 -
7-75192306-G-T HIP1 c.953C>A p.Ala318Asp Missense 11/31 -
1-16464450-GG-G EPHA2 c.1213delC p.His405Thrfs*2 Frameshift 5/17 -
7-73471016-G-A ELN c.1330G>A p.Ala444Thr Missense 21/33 -
2-164467966-C-T FIGN c.376G>A p.Asp126Asn Missense 3/3 -
3-123166420-C-T ADCY5 c.973G>A p.Ala325Thr Missense 1/21 -
19-31770340-G-C TSHZ3 c.359C>G p.Ala120Gly Missense 2/2 -
18-24628462-C-T CHST9 c.127G>A p.Val43Met Missense 3/6 -
20-36793594-C-T TGM2 c.7G>A p.Glu3Lys Missense 1/10 -
7-73467505-G-A ELN c.962G>A p.Gly321Asp Missense 18/33 -
1-110883889-G-A RBM15 c.1862G>A p.Trp621* Nonsense 1/3 -
5-170145799-C-A KCNIP1 c.99C>A p.Cys33* Nonsense 2/8 -
22-38641955-C-T TMEM184B c.344G>A p.Arg115His Missense 3/9 -
1-27059210-C-T ARID1A c.1847C>T p.Pro616Leu Missense 4/20 -
7-73466260-G-A ELN c.896G>A p.Gly299Glu Missense 17/33 -
19-31770589-G-C TSHZ3 c.110C>G p.Ala37Gly Missense 2/2 -
X-63412530-G-A AMER1 c.637C>T p.Gln213* Nonsense 2/2 -
8-121275226-C-T COL14A1 c.2989C>T p.Pro997Ser Missense 24/48 -
6-36290159-G-C C6orf222 c.1532C>G p.Ser511* Nonsense 9/12 -
5-112175951-G-T APC c.4660G>T p.Glu1554* Nonsense 16/16 -
1-236881174-G-T ACTN2 c.143G>T p.Cys48Phe Missense 2/21 -
1-115256466-A-G NRAS c.245T>C p.Phe82Ser Missense 3/7 -
7-73452058-C-T ELN c.185C>T p.Pro62Leu Missense 4/33 -
3-58140559-C-A FLNB c.6676C>A p.Leu2226Ile Missense 40/46 -
9-134322013-A-G PRRC2B c.839A>G p.Asp280Gly Missense 6/31 -
1-27023006-G-A ARID1A c.112G>A p.Glu38Lys Missense 1/20 -
5-170145809-G-A KCNIP1 c.109G>A p.Glu37Lys Missense 2/8 -
17-260315-G-T C17orf97 c.182G>T p.Gly61Val Missense 1/2 -
2-206921339-C-T INO80D c.547G>A p.Glu183Lys Missense 4/11 -
2-164467285-C-A FIGN c.1057G>T p.Asp353Tyr Missense 3/3 -
15-41377623-G-A INO80 c.817C>T p.Leu273Leu Synonymous 7/36 -
3-38674776-C-T SCN5A c.23G>A p.Arg8Gln Missense 2/28 -
21-42064836-C-T DSCAM c.408G>A p.Met136Ile Missense 3/33 -
2-206884534-G-A INO80D c.1334C>T p.Ala445Val Missense 7/11 -
17-7578200-C-T TP53 c.649G>A p.Val217Met Missense 6/11 -
8-95143107-G-A CDH17 c.2281C>T p.Pro761Ser Missense 16/18 -
7-73480279-G-T ELN c.2038G>T p.Ala680Ser Missense 31/33 -
3-38674629-T-C SCN5A c.170A>G p.Asp57Gly Missense 2/28 -
7-69064688-C-T AUTS2 c.49C>T p.Arg17Trp Missense 1/18 -
3-58062952-A-G FLNB c.472A>G p.Ile158Val Missense 2/46 -
2-141571313-T-A LRP1B c.5272A>T p.Asn1758Tyr Missense 32/91 -
3-188124101-G-A LPP c.193G>A p.Gly65Ser Missense 3/11 -
1-27023064-A-G ARID1A c.170A>G p.Glu57Gly Missense 1/20 -
7-75192538-T-C HIP1 c.833A>G p.Asn278Ser Missense 10/31 -
8-121160124-C-A COL14A1 c.43C>A p.Pro15Thr Missense 2/48 -
3-38620827-C-A SCN5A c.3388G>T p.Glu1130* Nonsense 18/28 -
7-73461079-A-G ELN c.625A>G p.Lys209Glu Missense 12/33 -
22-38643871-T-C TMEM184B c.97A>G p.Thr33Ala Missense 2/9 -
8-88218339-T-C CNBD1 c.550T>C p.Ser184Pro Missense 5/11 -
1-201981253-G-A ELF3 c.332G>A p.Arg111His Missense 3/9 -
17-263279-C-A C17orf97 c.645C>A p.Phe215Leu Missense 2/2 -
17-7579497-G-A TP53 c.190C>T p.Pro64Ser Missense 4/11 -
19-8212208-T-C FBN3 c.157A>G p.Ile53Val Missense 2/64 -
18-25532317-T-G CDH2 c.2521A>C p.Lys841Gln Missense 16/16 -
9-107553269-G-C ABCA1 c.5861C>G p.Ser1954* Nonsense 44/50 -
15-41366748-G-A INO80 c.1147C>T p.Arg383* Nonsense 10/36 -
1-27056253-T-C ARID1A c.1249T>C p.Tyr417His Missense 2/20 -
7-73459573-G-GT ELN c.491_492insT p.Val165Glyfs*12 Frameshift 10/33 -
6-151153185-G-A PLEKHG1 c.2938G>A p.Ala980Thr Missense 16/17 -
5-112155039-C-T APC c.1310C>T p.Pro437Leu Missense 10/16 -
5-112154870-G-A APC c.1141G>A p.Ala381Thr Missense 10/16 -
20-5294859-T-C PROKR2 c.157A>G p.Lys53Glu Missense 2/3 -
7-75190636-A-C HIP1 c.1188T>G p.Thr396Thr Synonymous 13/31 -
8-121180469-G-A COL14A1 c.419G>A p.Arg140Lys Missense 5/48 -
7-138601735-GG-TG KIAA1549 c.2636_2637delCCinsTG p.Thr879Met Missense 2/20 -
5-112154750-C-G APC c.1021C>G p.Gln341Glu Missense 10/16 -
1-27087895-C-G ARID1A c.2182C>G p.Pro728Ala Missense 6/20 -
2-141707920-A-G LRP1B c.3020T>C p.Phe1007Ser Missense 20/91 -
7-75174399-C-A HIP1 c.2647G>T p.Ala883Ser Missense 26/31 -
12-40618947-G-T LRRK2 c.14G>T p.Ser5Ile Missense 1/51 -
3-142511694-G-A TRPC1 c.1364G>A p.Trp455* Nonsense 8/12 -
7-138603864-G-A KIAA1549 c.508C>T p.Arg170Trp Missense 2/20 -
3-58108833-G-A FLNB c.3140G>A p.Gly1047Asp Missense 21/46 -
7-138603410-C-T KIAA1549 c.962G>A p.Arg321Lys Missense 2/20 -
20-5282783-C-T PROKR2 c.1058G>A p.Arg353His Missense 3/3 -
14-68264958-C-A ZFYVE26 c.2021G>T p.Gly674Val Missense 11/42 -
3-38651287-T-A SCN5A c.872A>T p.Asn291Ile Missense 7/28 -
7-73442534-C-T ELN c.17C>T p.Ala6Val Missense 1/33 -
3-38674677-T-G SCN5A c.122A>C p.Glu41Ala Missense 2/28 -
8-95183101-T-C CDH17 c.896A>G p.Asp299Gly Missense 8/18 -
17-49297746-C-G MBTD1 c.233G>C p.Cys78Ser Missense 4/17 -
2-164467846-T-A FIGN c.496A>T p.Ser166Cys Missense 3/3 -
2-141641431-C-T LRP1B c.4124G>A p.Gly1375Glu Missense 25/91 -
1-27057656-G-A ARID1A c.1364G>A p.Gly455Glu Missense 3/20 -
7-73458250-G-T ELN c.469G>T p.Gly157* Nonsense 9/33 -
11-44636822-C-A CD82 c.337C>A p.Leu113Met Missense 7/10 -
15-66727455-G-C MAP2K1 c.171G>C p.Lys57Asn Missense 2/11 -
1-27099851-C-T ARID1A c.3730C>T p.Pro1244Ser Missense 15/20 -
8-95182742-C-G CDH17 c.949G>C p.Gly317Arg Missense 9/18 -
7-73457009-G-A ELN c.298G>A p.Ala100Thr Missense 6/33 -
7-1522291-C-A INTS1 c.3594G>T p.Lys1198Asn Missense 27/48 -
7-4011116-A-T SDK1 c.1733A>T p.His578Leu Missense 12/45 -
17-7577121-G-A TP53 c.817C>T p.Arg273Cys Missense 8/11 -
8-121301977-C-A COL14A1 c.4208C>A p.Ser1403* Nonsense 34/48 -
6-151152894-G-T PLEKHG1 c.2647G>T p.Asp883Tyr Missense 16/17 -
2-141641494-C-T LRP1B c.4061G>A p.Ser1354Asn Missense 25/91 -
7-75190671-T-A HIP1 c.1153A>T p.Ser385Cys Missense 13/31 -
2-141680578-A-G LRP1B c.3275T>C p.Ile1092Thr Missense 21/91 -
7-73466127-C-T ELN c.847C>T p.Pro283Ser Missense 16/33 -
1-110883546-T-G RBM15 c.1519T>G p.Trp507Gly Missense 1/3 -
17-35837062-G-C TADA2A c.1307G>C p.Arg436Thr Missense 16/16 -
15-41388080-G-A INO80 c.190C>T p.Gln64* Nonsense 3/36 -
1-201983140-G-A ELF3 c.989G>A p.Ser330Asn Missense 8/9 -
1-27097686-T-C ARID1A c.3275T>C p.Leu1092Ser Missense 12/20 -