PMID: 29642553

Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal of personalized medicine
J Jiang, A Protopopov, R Sun, S Lyle, M Russell
2018-04-09

228 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
4-187549424-G-A FAT1 c.4694C>T p.Ser1565Phe Missense 9/27 -
17-7578394-T-A TP53 c.536A>T p.His179Leu Missense 5/11 -
1-16258756-T-G SPEN c.6021T>G p.Asp2007Glu Missense 11/15 -
1-16258756-T-A SPEN c.6021T>A p.Asp2007Glu Missense 11/15 -
1-16259454-C-T SPEN c.6719C>T p.Pro2240Leu Missense 11/15 -
9-98231338-T-C PTCH1 c.1945A>G p.Ser649Gly Missense 14/24 -
16-2121870-G-A TSC2 c.2032G>A p.Ala678Thr Missense 19/42 -
4-187584696-C-T FAT1 c.3337G>A p.Asp1113Asn Missense 3/27 -
7-128850877-A-T SMO c.1724A>T p.Lys575Met Missense 10/12 -
1-16255799-G-A SPEN c.3064G>A p.Val1022Met Missense 11/15 -
6-117700302-G-C ROS1 c.2517C>G p.Asp839Glu Missense 17/43 -
6-117700302-G-T ROS1 c.2517C>A p.Asp839Glu Missense 17/43 -
3-195597011-G-C TNK2 c.1517C>G p.Pro506Arg Missense 11/15 -
11-108139302-C-G ATM c.2804C>G p.Thr935Arg Missense 18/63 -
13-32910729-T-G BRCA2 c.2237T>G p.Val746Gly Missense 11/27 -
16-2138546-G-A TSC2 c.5359G>A p.Gly1787Ser Missense 42/42 -
6-51889507-C-T PKHD1 c.5101G>A p.Val1701Ile Missense 32/67 -
6-51889780-G-T PKHD1 c.4828C>A p.Gln1610Lys Missense 32/67 -
5-112170711-A-T APC c.1807A>T p.Lys603* Nonsense 15/16 -
1-27022955-GCCC-G ARID1A c.61_63delCCC p.Pro21delPro InFrameDeletion 1/20 -
19-10475404-G-A TYK2 c.1253C>T p.Ser418Leu Missense 9/25 -
5-112176810-T-G APC c.5519T>G p.Phe1840Cys Missense 16/16 -
6-51612785-G-C PKHD1 c.9629C>G p.Ser3210Cys Missense 58/67 -
6-117638325-C-T ROS1 c.6116G>A p.Arg2039His Missense 38/43 -
5-86564477-A-G RASA1 c.209A>G p.Glu70Gly Missense 1/25 -
6-51512912-C-T PKHD1 c.11315G>A p.Arg3772Gln Missense 63/67 -
17-7578403-C-A TP53 c.527G>T p.Cys176Phe Missense 5/11 -
6-166864686-G-A RPS6KA2 c.1111C>T p.His371Tyr Missense 13/21 -
4-187629457-G-A FAT1 c.1525C>T p.Pro509Ser Missense 2/27 -
19-17945800-C-A JAK3 c.2060G>T p.Arg687Met Missense 16/24 -
11-108175463-A-T ATM c.5558A>T p.Asp1853Val Missense 37/63 -
11-108170506-A-C ATM c.5071A>C p.Ser1691Arg Missense 34/63 -
17-7578469-C-A TP53 c.461G>T p.Gly154Val Missense 5/11 -
6-51513886-C-G PKHD1 c.11307G>C p.Glu3769Asp Missense 62/67 -
6-51513886-C-A PKHD1 c.11307G>T p.Glu3769Asp Missense 62/67 -
6-51768809-C-T PKHD1 c.6840G>A p.Trp2280* Nonsense 42/67 -
4-187542192-G-A FAT1 c.5548C>T p.His1850Tyr Missense 10/27 -
9-134026097-G-T NUP214 c.2222G>T p.Arg741Leu Missense 16/36 -
9-134073793-G-A NUP214 c.4912G>A p.Val1638Ile Missense 29/36 -
17-37686920-C-T CDK12 c.3824C>T p.Pro1275Leu Missense 14/14 -
10-43595999-C-A RET c.166C>A p.Leu56Met Missense 2/20 -
1-16261604-A-G SPEN c.8869A>G p.Asn2957Asp Missense 11/15 -
16-2112989-G-A TSC2 c.1378G>A p.Ala460Thr Missense 14/42 -
3-195594882-G-A TNK2 c.2242C>T p.Arg748Trp Missense 12/15 -
13-32929041-G-A BRCA2 c.7051G>A p.Ala2351Thr Missense 14/27 -
19-17942533-C-A JAK3 c.2755G>T p.Ala919Ser Missense 20/24 -
11-108203619-C-T ATM c.7919C>T p.Thr2640Ile Missense 53/63 -
9-98209216-G-A PTCH1 c.4322C>T p.Pro1441Leu Missense 23/24 -
1-120548095-C-A NOTCH2 c.272G>T p.Arg91Leu Missense 3/34 -
14-99723871-C-T BCL11B c.364G>A p.Asp122Asn Missense 2/4 -
17-29486071-A-T NF1 c.248A>T p.Gln83Leu Missense 3/57 -
10-104353781-C-T SUFU c.715C>T p.Arg239Trp Missense 6/12 -
6-117715781-G-C ROS1 c.977C>G p.Thr326Arg Missense 9/43 -
4-187518072-G-A FAT1 c.12622C>T p.Arg4208Trp Missense 25/27 -
6-117687250-T-A ROS1 c.2801A>T p.Lys934Met Missense 18/43 -
9-21971161-T-C CDKN2A c.197A>G p.His66Arg Missense 2/3 -
17-63532562-T-G AXIN2 c.2017A>C p.Thr673Pro Missense 8/11 -
3-178952088-A-G PIK3CA c.3143A>G p.His1048Arg Missense 21/21 -
2-148657382-T-C ACVR2A c.443T>C p.Met148Thr Missense 4/11 -
2-61147587-T-C REL c.992T>C p.Leu331Ser Missense 9/11 -
6-51777251-G-A PKHD1 c.6245C>T p.Thr2082Ile Missense 38/67 -
19-18273808-T-C PIK3R2 c.1141T>C p.Phe381Leu Missense 10/16 -
6-32187420-C-T NOTCH4 c.1459G>A p.Gly487Arg Missense 8/30 -
3-178952007-A-G PIK3CA c.3062A>G p.Tyr1021Cys Missense 21/21 -
12-4409090-G-A CCND2 c.785G>A p.Arg262His Missense 5/5 -
3-195611829-C-T TNK2 c.310G>A p.Ala104Thr Missense 4/15 -
6-117709104-T-C ROS1 c.1853A>G p.Asp618Gly Missense 13/43 -
17-56440904-G-A RNF43 c.433C>T p.Arg145* Nonsense 4/10 -
19-10478825-C-T TYK2 c.371G>A p.Arg124His Missense 5/25 -
6-117718187-G-A ROS1 c.670C>T p.Pro224Ser Missense 7/43 -
11-125497572-G-A CHEK1 c.136G>A p.Val46Ile Missense 3/13 -
3-195595374-G-A TNK2 c.1750C>T p.Pro584Ser Missense 12/15 -
1-27023757-A-C ARID1A c.863A>C p.Gln288Pro Missense 1/20 -
17-7578535-T-A TP53 c.395A>T p.Lys132Met Missense 5/11 -
1-120464978-G-C NOTCH2 c.5094C>G p.Ile1698Met Missense 28/34 -
6-117710891-T-C ROS1 c.1381A>G p.Lys461Glu Missense 12/43 -
11-108160441-T-C ATM c.4349T>C p.Leu1450Pro Missense 29/63 -
10-97963824-A-G BLNK c.923T>C p.Ile308Thr Missense 13/17 -
13-32914196-G-A BRCA2 c.5704G>A p.Asp1902Asn Missense 11/27 -
1-120539827-C-T NOTCH2 c.544G>A p.Asp182Asn Missense 4/34 -
11-108172463-A-T ATM c.5266A>T p.Thr1756Ser Missense 35/63 -
X-48896750-G-A TFE3 c.416C>T p.Ala139Val Missense 3/10 -
17-7577096-T-A TP53 c.842A>T p.Asp281Val Missense 8/11 -
17-7579462-CAGGGGCCACGG-C TP53 c.215_225del11 p.Pro72Argfs*73 Frameshift 4/11 -
7-55240690-C-G EGFR c.1934C>G p.Ser645Cys Missense 17/28 -
17-7578499-T-G TP53 c.431A>C p.Gln144Pro Missense 5/11 -
5-38942984-G-A RICTOR c.5003C>T p.Pro1668Leu Missense 37/38 -
6-51637536-G-T PKHD1 c.8606C>A p.Thr2869Lys Missense 55/67 -
11-108172415-A-G ATM c.5218A>G p.Ile1740Val Missense 35/63 -
7-128852021-C-G SMO c.2093C>G p.Pro698Arg Missense 12/12 -
3-178952090-G-C PIK3CA c.3145G>C p.Gly1049Arg Missense 21/21 -
1-120510113-G-T NOTCH2 c.1396C>A p.Gln466Lys Missense 8/34 -
17-63533732-AATG-A AXIN2 c.1420_1422delCAT p.His474delHis InFrameDeletion 6/11 -
17-29553483-C-A NF1 c.2032C>A p.Pro678Thr Missense 18/57 -
6-32185857-C-A NOTCH4 c.1539G>T p.Glu513Asp Missense 9/30 -
6-32185857-C-G NOTCH4 c.1539G>C p.Glu513Asp Missense 9/30 -
4-187628248-C-T FAT1 c.2734G>A p.Val912Ile Missense 2/27 -
11-108164185-G-C ATM c.4757G>C p.Gly1586Ala Missense 31/63 -
17-7578437-G-A TP53 c.493C>T p.Gln165* Nonsense 5/11 -
3-195595023-C-T TNK2 c.2101G>A p.Ala701Thr Missense 12/15 -
17-56440710-C-T RNF43 c.508G>A p.Glu170Lys Missense 5/10 -
17-5463318-G-A NLRP1 c.698C>T p.Pro233Leu Missense 4/17 -
1-16261065-C-T SPEN c.8330C>T p.Ala2777Val Missense 11/15 -
17-7579705-C-T TP53 c.91G>A p.Val31Ile Missense 3/11 -
7-2983958-T-C CARD11 c.572A>G p.Asn191Ser Missense 5/25 -
6-32168694-C-T NOTCH4 c.4229G>A p.Arg1410His Missense 23/30 -
11-108098576-C-G ATM c.146C>G p.Ser49Cys Missense 3/63 -
20-54958090-C-G AURKA c.517G>C p.Gly173Arg Missense 5/9 -
20-54958090-C-T AURKA c.517G>A p.Gly173Arg Missense 5/9 -
7-55249029-G-A EGFR c.2327G>A p.Arg776His Missense 20/28 -
17-7577118-C-A TP53 c.820G>T p.Val274Phe Missense 8/11 -
17-63530171-C-A AXIN2 c.2264G>T p.Gly755Val Missense 10/11 -
19-17945798-T-A JAK3 c.2062A>T p.Ile688Phe Missense 16/24 -
6-51921514-G-A PKHD1 c.1675C>T p.Arg559Trp Missense 18/67 -
19-10469919-G-A TYK2 c.2107C>T p.Arg703Trp Missense 15/25 -
13-32910842-A-G BRCA2 c.2350A>G p.Met784Val Missense 11/27 -
X-48887947-C-T TFE3 c.1450G>A p.Ala484Thr Missense 10/10 -
11-95825755-G-C MAML2 c.1440C>G p.Ile480Met Missense 2/5 -
6-51923291-C-G PKHD1 c.1342G>C p.Gly448Arg Missense 16/67 -
4-187540683-A-C FAT1 c.7057T>G p.Ser2353Ala Missense 10/27 -
6-166844023-C-T RPS6KA2 c.1499G>A p.Arg500Gln Missense 16/21 -
5-38962991-A-G RICTOR c.1553T>C p.Ile518Thr Missense 17/38 -
5-112174586-G-A APC c.3295G>A p.Val1099Ile Missense 16/16 -
10-43600607-C-A RET c.833C>A p.Thr278Asn Missense 4/20 -
6-51524409-G-T PKHD1 c.10515C>A p.Ser3505Arg Missense 61/67 -
17-56435581-C-T RNF43 c.1556G>A p.Arg519Gln Missense 9/10 -
13-32914623-G-T BRCA2 c.6131G>T p.Gly2044Val Missense 11/27 -
17-7577120-C-G TP53 c.818G>C p.Arg273Pro Missense 8/11 -
13-32906579-A-C BRCA2 c.964A>C p.Lys322Gln Missense 10/27 -
17-7577587-T-A TP53 c.694A>T p.Ile232Phe Missense 7/11 -
6-32187420-C-G NOTCH4 c.1459G>C p.Gly487Arg Missense 8/30 -
2-148657391-C-T ACVR2A c.452C>T p.Ala151Val Missense 4/11 -
17-7579515-G-GTCACCCGGAT TP53 c.171_172insATCCGGGTGA p.Pro58Ilefs*8 Frameshift 4/11 -
6-41903798-C-A CCND3 c.759G>T p.Glu253Asp Missense 5/5 -
4-187542704-G-A FAT1 c.5036C>T p.Thr1679Ile Missense 10/27 -
17-7578524-G-A TP53 c.406C>T p.Gln136* Nonsense 5/11 -
9-21970928-G-A CDKN2A c.430C>T p.Arg144Cys Missense 2/3 -
13-32937526-G-T BRCA2 c.8187G>T p.Lys2729Asn Missense 18/27 -
1-27023049-C-T ARID1A c.155C>T p.Ala52Val Missense 1/20 -
9-98229521-G-C PTCH1 c.2437C>G p.Pro813Ala Missense 15/24 -
19-17949138-C-A JAK3 c.1503G>T p.Gln501His Missense 11/24 -
6-41903798-C-G CCND3 c.759G>C p.Glu253Asp Missense 5/5 -
6-51768795-C-T PKHD1 c.6854G>A p.Gly2285Glu Missense 42/67 -
17-7578526-C-T TP53 c.404G>A p.Cys135Tyr Missense 5/11 -
1-233518168-T-C MAP3K21 c.2822T>C p.Ile941Thr Missense 10/10 -
6-138200350-T-A TNFAIP3 c.1768T>A p.Cys590Ser Missense 7/9 -
13-32914817-G-A BRCA2 c.6325G>A p.Val2109Ile Missense 11/27 -
3-195594638-G-T TNK2 c.2486C>A p.Thr829Asn Missense 12/15 -
11-102195846-A-C BIRC3 c.606A>C p.Arg202Ser Missense 2/9 -
15-40494810-G-A BUB1B c.1649G>A p.Arg550Gln Missense 14/23 -
1-16203122-G-A SPEN c.830G>A p.Arg277Lys Missense 3/15 -
11-108172386-G-A ATM c.5189G>A p.Arg1730Gln Missense 35/63 -
1-27088656-G-GT ARID1A c.2265_2266insT p.Asn756*fs*1 Nonsense 7/20 -
5-112137003-G-A APC c.757G>A p.Gly253Ser Missense 8/16 -
6-117687391-G-A ROS1 c.2660C>T p.Ala887Val Missense 18/43 -
17-7578203-C-T TP53 c.646G>A p.Val216Met Missense 6/11 -
19-18280085-C-T PIK3R2 c.2168C>T p.Pro723Leu Missense 16/16 -
11-108196929-A-C ATM c.6952A>C p.Lys2318Gln Missense 47/63 -
17-41606000-C-T ETV4 c.1342G>A p.Val448Ile Missense 13/13 -
4-187584610-C-A FAT1 c.3423G>T p.Glu1141Asp Missense 3/27 -
4-187584610-C-G FAT1 c.3423G>C p.Glu1141Asp Missense 3/27 -
4-187558029-T-C FAT1 c.3682A>G p.Ile1228Val Missense 5/27 -
6-51656139-A-C PKHD1 c.8335T>G p.Phe2779Val Missense 53/67 -
3-195605334-G-A TNK2 c.1144C>T p.Arg382Trp Missense 8/15 -
11-102195846-A-T BIRC3 c.606A>T p.Arg202Ser Missense 2/9 -
5-112175925-C-A APC c.4634C>A p.Ser1545* Nonsense 16/16 -
5-112175925-C-G APC c.4634C>G p.Ser1545* Nonsense 16/16 -
13-32911175-G-A BRCA2 c.2683G>A p.Ala895Thr Missense 11/27 -
17-56439952-G-C RNF43 c.640C>G p.Leu214Val Missense 6/10 -
18-48575080-C-T SMAD4 c.274C>T p.His92Tyr Missense 3/12 -
6-51483998-G-A PKHD1 c.12106C>T p.Arg4036Trp Missense 67/67 -
11-108121717-G-T ATM c.1525G>T p.Gly509* Nonsense 10/63 -
1-120466347-G-A NOTCH2 c.4772C>T p.Pro1591Leu Missense 26/34 -
1-27023244-T-C ARID1A c.350T>C p.Leu117Pro Missense 1/20 -
4-187584587-A-G FAT1 c.3446T>C p.Met1149Thr Missense 3/27 -
6-51484304-C-T PKHD1 c.11800G>A p.Val3934Ile Missense 67/67 -
11-95825930-C-T MAML2 c.1265G>A p.Arg422Gln Missense 2/5 -
6-117631316-C-A ROS1 c.6362G>T p.Gly2121Val Missense 40/43 -
10-43604643-C-G RET c.1228C>G p.Leu410Val Missense 6/20 -
5-86564492-G-C RASA1 c.224G>C p.Gly75Ala Missense 1/25 -
3-178943779-A-G PIK3CA c.2446A>G p.Ile816Val Missense 17/21 -
7-55241677-G-A EGFR c.2125G>A p.Glu709Lys Missense 18/28 -
19-10476513-G-A TYK2 c.691C>T p.Arg231Trp Missense 7/25 -
1-120478125-A-C NOTCH2 c.3625T>G p.Phe1209Val Missense 22/34 -
6-117709188-A-G ROS1 c.1769T>C p.Leu590Pro Missense 13/43 -
5-38945053-C-A RICTOR c.4751G>T p.Gly1584Val Missense 35/38 -
17-7578457-C-A TP53 c.473G>T p.Arg158Leu Missense 5/11 -
6-36651889-C-T CDKN1A c.11C>T p.Pro4Leu Missense 3/4 -
19-10461586-T-C TYK2 c.3488A>G p.Glu1163Gly Missense 25/25 -
17-7577124-C-T TP53 c.814G>A p.Val272Met Missense 8/11 -
9-134019847-C-G NUP214 c.1475C>G p.Ser492Cys Missense 12/36 -
17-7577559-G-A TP53 c.722C>T p.Ser241Phe Missense 7/11 -
1-233514836-C-T MAP3K21 c.2084C>T p.Ala695Val Missense 9/10 -
6-51751949-A-T PKHD1 c.7091T>A p.Ile2364Asn Missense 44/67 -
13-32953971-C-T BRCA2 c.9038C>T p.Thr3013Ile Missense 23/27 -
6-51712738-C-T PKHD1 c.7942G>A p.Gly2648Ser Missense 50/67 -
3-178927451-C-T PIK3CA c.1214C>T p.Ser405Phe Missense 7/21 -
13-48923126-A-G RB1 c.574A>G p.Lys192Glu Missense 6/27 -
1-16203149-G-A SPEN c.857G>A p.Ser286Asn Missense 3/15 -
10-43606856-G-A RET c.1465G>A p.Asp489Asn Missense 7/20 -
1-233511675-A-T MAP3K21 c.1689A>T p.Glu563Asp Missense 7/10 -
1-233511675-A-C MAP3K21 c.1689A>C p.Glu563Asp Missense 7/10 -
17-63530153-G-T AXIN2 c.2282C>A p.Ala761Asp Missense 10/11 -
4-187541728-A-C FAT1 c.6012T>G p.Ile2004Met Missense 10/27 -
7-2969627-A-G CARD11 c.1652T>C p.Met551Thr Missense 12/25 -
3-195594464-G-T TNK2 c.2660C>A p.Pro887His Missense 12/15 -
7-55242470-TTAAGAGAAGCAACAT-T EGFR c.2240_2254del15 p.Leu747_thr751del InFrameDeletion 19/28 -
5-38950405-T-C RICTOR c.3545A>G p.Asp1182Gly Missense 31/38 -
19-17949138-C-G JAK3 c.1503G>C p.Gln501His Missense 11/24 -
17-5424936-C-T NLRP1 c.3691G>A p.Val1231Ile Missense 13/17 -
10-43622095-A-G RET c.3112A>G p.Thr1038Ala Missense 19/20 -
2-219558056-C-T STK36 c.2137C>T p.His713Tyr Missense 17/27 -
9-134003803-C-T NUP214 c.326C>T p.Ala109Val Missense 3/36 -
9-98224163-C-T PTCH1 c.2678G>A p.Arg893His Missense 16/24 -
17-56436044-C-T RNF43 c.1093G>A p.Ala365Thr Missense 9/10 -
17-41610577-G-T ETV4 c.523C>A p.His175Asn Missense 7/13 -
6-138200351-G-C TNFAIP3 c.1769G>C p.Cys590Ser Missense 7/9 -
19-18273810-C-G PIK3R2 c.1143C>G p.Phe381Leu Missense 10/16 -
19-18273810-C-A PIK3R2 c.1143C>A p.Phe381Leu Missense 10/16 -
13-32929297-A-T BRCA2 c.7307A>T p.Asn2436Ile Missense 14/27 -
6-51935813-C-T PKHD1 c.658G>A p.Asp220Asn Missense 9/67 -
6-51947999-G-A PKHD1 c.107C>T p.Thr36Met Missense 3/67 -
1-120497840-A-T NOTCH2 c.2042T>A p.Ile681Asn Missense 13/34 -
17-7577509-C-T TP53 c.772G>A p.Glu258Lys Missense 7/11 -
6-32187906-C-G NOTCH4 c.1315G>C p.Ala439Pro Missense 7/30 -
6-117714415-G-C ROS1 c.1234C>G p.Gln412Glu Missense 11/43 -
6-51889764-G-A PKHD1 c.4844C>T p.Thr1615Met Missense 32/67 -
6-117642495-C-T ROS1 c.5704G>A p.Glu1902Lys Missense 35/43 -