PMID: 30355600

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.

Genome research
Maher, Geoffrey J GJ, Ralph, Hannah K HK, Ding, Zhihao Z, Koelling, Nils N, Mlcochova, Hana H, Giannoulatou, Eleni E, Dhami, Pawan P, Paul, Dirk S DS, Stricker, Stefan H SH, Beck, Stephan S, McVean, Gilean G, Wilkie, Andrew O M AOM, Goriely, Anne A
2018-12

115 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
5-112102063-CT-AG APC c.176_177delCTinsAG p.A59E Missense 3/16 -
12-25380231-T-A KRAS c.227A>T p.E76V Missense 3/5 -
2-39239287-T-A SOS1 c.2370A>T p.L790F Missense 14/23 -
2-39239287-T-G SOS1 c.2370A>C p.L790F Missense 14/23 -
10-123274636-C-G FGFR2 c.1282G>C p.V428L Missense 9/18 -
12-112926884-TC-AA PTPN11 c.1504_1505delTCinsAA p.S502K Missense 13/16 -
10-123274634-TAC-CAT FGFR2 c.1282_1284delGTAinsATG p.V428M Missense 9/18 -
10-123274636-C-A FGFR2 c.1282G>T p.V428L Missense 9/18 -
10-123325110-G-A FGFR2 c.218C>T p.T73I Missense 3/18 -
10-123256106-C-G FGFR2 c.1803G>C p.K601N Missense 13/18 -
10-123256106-C-A FGFR2 c.1803G>T p.K601N Missense 13/18 -
18-42532718-G-C SETBP1 c.3413G>C p.G1138A Missense 4/6 -
12-112888202-C-T PTPN11 c.218C>T p.T73I Missense 3/16 -
4-1807371-C-A FGFR3 c.1620C>A p.N540K Missense 12/18 -
17-7578490-A-C TP53 c.440T>G p.V147G Missense 5/11 -
4-1807371-C-G FGFR3 c.1620C>G p.N540K Missense 12/18 -
10-43617415-ATG-TAT RET c.2752_2754delATGinsTAT p.M918Y Missense 16/20 -
12-112888211-A-C PTPN11 c.227A>C p.E76A Missense 3/16 -
10-123274803-G-C FGFR2 c.1115C>G p.S372C Missense 9/18 -
17-7577144-A-C TP53 c.794T>G p.L265R Missense 8/11 -
10-123276865-G-C FGFR2 c.1052C>G p.S351C Missense 8/18 -
10-123276893-A-T FGFR2 c.1024T>A p.C342S Missense 8/18 -
10-123276898-T-C FGFR2 c.1019A>G p.Y340C Missense 8/18 -
10-123279562-C-A FGFR2 c.870G>T p.W290C Missense 7/18 -
10-123279562-C-G FGFR2 c.870G>C p.W290C Missense 7/18 -
10-123279566-T-G FGFR2 c.866A>C p.Q289P Missense 7/18 -
10-123279677-G-A FGFR2 c.755C>T p.S252L Missense 7/18 -
4-1805540-C-G FGFR3 c.1052C>G p.S351C Missense 8/18 -
4-1805519-C-T FGFR3 c.1031C>T p.S344F Missense 8/18 -
4-1808029-C-G FGFR3 c.2005C>G p.R669G Missense 15/18 -
4-1807488-G-A FGFR3 c.1657G>A p.V553M Missense 13/18 -
12-112888211-A-T PTPN11 c.227A>T p.E76V Missense 3/16 -
12-112891083-G-T PTPN11 c.417G>T p.E139D Missense 4/16 -
19-4110584-A-T MAP2K2 c.373T>A p.C125S Missense 3/11 -
12-112888199-C-A PTPN11 c.215C>A p.A72D Missense 3/16 -
10-43613906-G-C RET c.2370G>C p.L790F Missense 13/20 -
10-43613906-G-T RET c.2370G>T p.L790F Missense 13/20 -
12-112888210-G-C PTPN11 c.226G>C p.E76Q Missense 3/16 -
7-140453155-C-G BRAF c.1780G>C p.D594H Missense 15/18 -
1-243668575-G-C AKT3 c.1416C>G p.S472= Synonymous 14/14 -
5-112175762-T-G APC c.4471T>G p.F1491V Missense 16/16 -
7-140482928-G-C BRAF c.1207C>G p.P403A Missense 10/18 -
7-140449196-T-G BRAF c.1883A>C p.Q628P Missense 16/18 -
7-140439614-G-T BRAF c.2125C>A p.Q709K Missense 17/18 -
10-123279605-A-C FGFR2 c.827T>G p.F276C Missense 7/18 -
12-25380282-G-T KRAS c.176C>A p.A59E Missense 3/5 -
12-112888197-T-G PTPN11 c.213T>G p.F71L Missense 3/16 -
12-112888198-G-C PTPN11 c.214G>C p.A72P Missense 3/16 -
12-112924336-G-A PTPN11 c.1282G>A p.V428M Missense 11/16 -
12-112924336-G-T PTPN11 c.1282G>T p.V428L Missense 11/16 -
12-112926908-C-A PTPN11 c.1528C>A p.Q510K Missense 13/16 -
10-43615613-G-T RET c.2692G>T p.D898Y Missense 15/20 -
2-39250292-T-G SOS1 c.1277A>C p.Q426P Missense 10/23 -
11-119148991-G-A CBL c.1211G>A p.C404Y Missense 8/16 -
11-68115514-C-T LRP5 c.291C>T p.A97= Synonymous 2/23 -
17-29554264-G-A NF1 c.2280G>A p.M760I Missense 19/58 -
12-112888166-A-C PTPN11 c.182A>C p.D61A Missense 3/16 -
12-112915455-T-G PTPN11 c.854T>G p.F285C Missense 8/16 -
12-112926890-A-G PTPN11 c.1510A>G p.M504V Missense 13/16 -
7-140453096-C-G BRAF c.1839G>C p.L613F Missense 15/18 -
12-112888162-G-C PTPN11 c.178G>C p.G60R Missense 3/16 -
3-12645688-G-C RAF1 c.781C>G p.P261A Missense 7/17 -
3-30729984-G-T TGFBR2 c.1505G>T p.S502I Missense 6/7 -
19-15303217-A-C NOTCH3 c.311T>G p.F104C Missense 3/33 -
X-70349047-C-A MED12 c.3559C>A p.P1187T Missense 25/45 -
5-112175173-G-A APC c.3882G>A p.Q1294= Synonymous 16/16 -
7-140439679-T-G BRAF c.2060A>C p.K687T Missense 17/18 -
12-112926884-T-A PTPN11 c.1504T>A p.S502T Missense 13/16 -
3-129251230-T-C RHO c.667T>C p.Y223H Missense 3/5 -
17-7576897-G-C TP53 c.949C>G p.Q317E Missense 9/11 -
12-6646840-A-G GAPDH c.616A>G p.I206V Missense 8/9 -
7-140476802-G-C BRAF c.1604C>G p.S535C Missense 13/18 -
17-29533271-G-C NF1 c.1274G>C p.W425S Missense 12/58 -
2-39250064-T-G SOS1 c.1505A>C p.N502T Missense 10/23 -
1-120510852-A-C NOTCH2 c.1112T>G p.L371R Missense 7/34 -
10-123324043-A-C FGFR2 c.427T>G p.F143V Missense 4/18 -
10-89720716-A-T PTEN c.867A>T p.K289N Missense 8/9 -
2-39285879-T-G SOS1 c.280A>C p.I94L Missense 3/23 -
2-39262566-G-T SOS1 c.940C>A p.Q314K Missense 7/23 -
2-29432719-A-C ALK c.3769T>G p.L1257V Missense 25/29 -
9-139399372-G-C NOTCH1 c.4771C>G p.H1591D Missense 26/34 -
3-133118979-A-C BFSP2 c.52A>C p.M18L Missense 1/7 -
11-113934757-G-C ZBTB16 c.735G>C p.M245I Missense 2/7 -
12-6645897-C-G GAPDH c.177C>G p.T59= Synonymous 4/9 -
17-7577502-G-T TP53 c.779C>A p.S260Y Missense 7/11 -
11-113934759-T-G ZBTB16 c.737T>G p.M246R Missense 2/7 -
5-137802578-A-T EGR1 c.440A>T p.N147I Missense 2/2 -
11-114027124-T-A ZBTB16 c.1334T>A p.L445* Nonsense 3/7 -
17-37881377-A-C ERBB2 c.2569A>C p.N857H Missense 21/27 -
3-178941885-T-G PIK3CA c.2204T>G p.L735* Nonsense 15/21 -
11-119155691-C-G CBL c.1444C>G p.P482A Missense 10/16 -
10-43610089-C-G RET c.2041C>G p.Q681E Missense 11/20 -
19-42474682-A-C ATP1A3 c.2276T>G p.F759C Missense 17/23 -
3-12645662-G-C RAF1 c.807C>G p.T269= Synonymous 7/17 -
11-119149260-T-A CBL c.1268T>A p.I423N Missense 9/16 -
1-243668564-C-G AKT3 c.1427G>C p.S476T Missense 14/14 -
19-49993814-C-G RPL13A c.237C>G p.I79M Missense 4/8 -
7-116340333-A-C MET c.1195A>C p.N399H Missense 2/21 -
1-120510087-C-A NOTCH2 c.1422G>T p.K474N Missense 8/34 -
1-120510197-C-G NOTCH2 c.1312G>C p.G438R Missense 8/34 -
7-55249124-A-C EGFR c.2422A>C p.N808H Missense 20/28 -
7-148506475-C-G EZH2 c.2037G>C p.V679= Synonymous 18/20 -
1-120458186-G-C NOTCH2 c.7159C>G p.P2387A Missense 34/34 -
12-6646310-C-G GAPDH c.371C>G p.P124R Missense 6/9 -
1-120458731-T-G NOTCH2 c.6614A>C p.H2205P Missense 34/34 -
11-113935088-C-G ZBTB16 c.1066C>G p.L356V Missense 2/7 -
7-148525970-A-C EZH2 c.487T>G p.C163G Missense 6/20 -
3-178947133-A-C PIK3CA c.2569A>C p.I857L Missense 18/21 -
3-140123411-A-T CLSTN2 c.440A>T p.H147L Missense 4/17 -
3-12650359-A-C RAF1 c.487T>G p.F163V Missense 5/17 -
4-1803135-C-G FGFR3 c.487C>G p.L163V Missense 5/18 -
12-112888199-C-G PTPN11 c.215C>G p.A72G Missense 3/16 -
12-112884102-G-C PTPN11 c.37G>C p.G13R Missense 2/16 -
5-112102063-C-G APC c.176C>G p.A59G Missense 3/16 -
12-25380231-T-G KRAS c.227A>C p.E76A Missense 3/5 -