Chr Start End Ref Alt Func.refGene Gene.refGene GeneDetail.refGene ExonicFunc.refGene AAChange.refGene phastConsElements46way genomicSuperDups esp6500si_all 1000g2012apr_all cosmic65 nci60 snp137 avsift LJB_PhyloP LJB_PhyloP_Pred LJB_SIFT LJB_SIFT_Pred LJB_PolyPhen2 LJB_PolyPhen2_Pred LJB_LRT LJB_LRT_Pred LJB_MutationTaster LJB_MutationTaster_Pred LJB_GERP++ tumor_ref tumor_var misRate_tumor normal_ref normal_var misRate_normal p-value(Fisher) strandRatio_tumor strandRatio_normal tumor_realign(total,ref,alt,freq) normal_realign(total,ref,alt,freq) p-value(Realaign) p-value(EBcall) chr1 15888681 15888681 A C exonic DNAJC16 nonsynonymous SNV DNAJC16:NM_015291:exon9:c.A1199C:p.K400T ID=COSM463217;OCCURENCE=1(kidney) 0.58 0.940984 N 0.65 T 0.0 B 0.575641 N 0.980016 D 1.82 122 29 0.192 191 0 0.000 9.6625017680858469e-12 1.000 --- 171,115,55,0.324 145,145,0,0.000 16.789 60 chr1 24416601 24416601 G A exonic MYOM3 synonymous SNV MYOM3:NM_152372:exon13:c.C1440T:p.P480P Score=423;Name=lod=70 63 8 0.113 55 0 0.000 0.00944068046104650816 0.375 --- 62,51,9,0.150 51,51,0,0.000 2.453 6.54 chr1 159023333 159023333 G A exonic IFI16 nonsynonymous SNV IFI16:NM_001206567:exon10:c.G1928A:p.R643K,IFI16:NM_005531:exon10:c.G1928A:p.R643K 0.31 0.139627 N 0.52 T 0.0030 B 0.612987 NA 2.0E-6 N -3.08 82 11 0.118 82 0 0.000 0.000874793589579679314 0.636 --- 79,70,9,0.114 70,70,0,0.000 2.459 4.981 chr1 160607286 160607286 C G exonic SLAMF1 nonsynonymous SNV SLAMF1:NM_003037:exon2:c.G110C:p.R37P 0.15 0.017659 N 0.85 T 0.023 B 0.241892 N 0.013121 N -6.01 95 21 0.181 116 0 0.000 3.5278556220206604e-07 0.381 --- 102,85,17,0.167 97,96,0,0.000 5.081 11.343 chr1 161140922 161140922 C T exonic PPOX nonsynonymous SNV PPOX:NM_000309:exon13:c.C1390T:p.R464C,PPOX:NM_001122764:exon13:c.C1390T:p.R464C Score=552;Name=lod=233 0.000077 rs147480828 0 0.99877 C 1.0 D 1.0 D 1.0 D 0.994943 D 4.63 230 41 0.151 195 0 0.000 7.55196697092428229e-11 0.512 --- 219,184,35,0.160 161,161,0,0.000 8.831 5.815 chr1 235505353 235505353 C A exonic GGPS1 nonsynonymous SNV GGPS1:NM_001037277:exon4:c.C169A:p.H57N Score=709;Name=lod=1012 0 0.999392 C 1.0 D 0.999 D 1.0 D 0.999622 D 5.82 60 10 0.143 65 0 0.000 0.001461909040978769 0.600 --- 67,58,9,0.134 60,60,0,0.000 2.489 6.849 chr2 179622365 179622365 C A exonic TTN nonsynonymous SNV TTN:NM_133432:exon44:c.G10444T:p.D3482Y,TTN:NM_001267550:exon45:c.G10582T:p.D3528Y Score=725;Name=lod=1179 221 28 0.112 303 0 0.000 8.64476407198727796e-11 0.571 --- 210,185,24,0.115 256,256,0,0.000 8.669 9.504 chr2 219747043 219747043 G T exonic WNT10A nonsynonymous SNV WNT10A:NM_025216:exon2:c.G274T:p.A92S Score=677;Name=lod=754 0.01 0.00881 N 0.86 T 0.924 D 0.999999 D 0.999933 D 4.66 243 42 0.147 207 0 0.000 3.86608889616188001e-11 0.405 --- 249,210,38,0.153 183,183,0,0.000 9.637 60 chr2 220315865 220315865 G A exonic SPEG synonymous SNV SPEG:NM_005876:exon5:c.G2121A:p.S707S ID=COSM247555;OCCURENCE=1(prostate) 121 16 0.117 134 0 0.000 1.93902239710185758e-05 0.812 --- 119,105,14,0.118 111,111,0,0.000 4.045 10.333 chr5 180041103 180041103 G T exonic FLT4 nonsynonymous SNV FLT4:NM_002020:exon24:c.C3296A:p.S1099Y,FLT4:NM_182925:exon24:c.C3296A:p.S1099Y Score=582;Name=lod=310 0 0.998825 C 1.0 D 0.961 D 1.0 NA 0.999997 D 3.32 83 11 0.117 75 0 0.000 0.00128128127679230184 0.727 --- 66,57,9,0.136 59,59,0,0.000 2.489 6.758 chr6 169648697 169648697 C T exonic THBS2 nonsynonymous SNV THBS2:NM_003247:exon4:c.G424A:p.V142I Score=506;Name=lod=152 0.07 0.997339 C 0.83 T 0.868 D 0.998845 U 1.09E-4 N 4.45 320 45 0.123 314 0 0.000 2.02365602767764149e-13 0.578 --- 307,268,38,0.124 263,263,0,0.000 10.684 13.548 chr7 5262239 5262239 G A exonic WIPI2 nonsynonymous SNV WIPI2:NM_001033520:exon5:c.G499A:p.V167M,WIPI2:NM_001033519:exon7:c.G622A:p.V208M,WIPI2:NM_016003:exon7:c.G622A:p.V208M,WIPI2:NM_001033518:exon8:c.G676A:p.V226M,WIPI2:NM_015610:exon8:c.G676A:p.V226M Score=457;Name=lod=96 0 0.999656 C 1.0 D 0.845 P 0.999773 N 0.998085 D 5.31 80 9 0.101 80 0 0.000 0.00347671816876566737 0.556 --- 71,63,8,0.113 59,59,0,0.000 2.102 5.976 chr9 35091449 35091449 A C exonic PIGO stopgain PIGO:NM_032634:exon7:c.T2435G:p.L812X Score=605;Name=lod=384 0.02 0.998676 C 0.904121 NA 0.731423 NA 0.977759 N 1.0 A 4.71 271 40 0.129 269 1 0.004 8.97971049498173978e-11 1.000 1.000 347,277,70,0.202 249,247,2,0.008 15.012 13.95 chr9 90501303 90501303 C T exonic SPATA31E1 nonsynonymous SNV SPATA31E1:NM_178828:exon4:c.C1901T:p.A634V 0.14 0.23333 N 0.84 T 0.0010 B 0.063036 N 0.00308 N 0.413 273 40 0.128 286 0 0.000 1.51765890025989524e-12 0.425 --- 279,244,35,0.125 254,254,0,0.000 10.298 6.096 chr9 127174656 127174656 G A exonic PSMB7 nonsynonymous SNV PSMB7:NM_002799:exon4:c.C370T:p.R124W Score=557;Name=lod=244 0.000077 ID=COSM1222330;OCCURENCE=1(large_intestine) 0.01 0.993603 C 0.99 D 0.995 D 1.0 D 0.999995 D 3.76 163 22 0.119 123 0 0.000 1.26658259689830676e-05 0.682 --- 149,128,21,0.141 101,101,0,0.000 4.946 3.629 chr12 129467603 129467603 A C exonic GLT1D1 nonsynonymous SNV GLT1D1:NM_144669:exon8:c.A769C:p.I257L 0.05 0.067759 N 0.93 T 0.02 B 0.981852 N 0.197355 N -4.98 95 11 0.104 105 0 0.000 0.000743199268351879823 0.000 --- 109,89,20,0.183 89,89,0,0.000 5.429 6.769 chr17 7577538 7577538 C T exonic TP53 nonsynonymous SNV TP53:NM_001126115:exon3:c.G347A:p.R116Q,TP53:NM_001126116:exon3:c.G347A:p.R116Q,TP53:NM_001126117:exon3:c.G347A:p.R116Q,TP53:NM_001276697:exon3:c.G266A:p.R89Q,TP53:NM_001276698:exon3:c.G266A:p.R89Q,TP53:NM_001276699:exon3:c.G266A:p.R89Q,TP53:NM_001126118:exon6:c.G626A:p.R209Q,TP53:NM_000546:exon7:c.G743A:p.R248Q,TP53:NM_001126112:exon7:c.G743A:p.R248Q,TP53:NM_001126113:exon7:c.G743A:p.R248Q,TP53:NM_001126114:exon7:c.G743A:p.R248Q,TP53:NM_001276695:exon7:c.G626A:p.R209Q,TP53:NM_001276696:exon7:c.G626A:p.R209Q,TP53:NM_001276760:exon7:c.G626A:p.R209Q,TP53:NM_001276761:exon7:c.G626A:p.R209Q Score=520;Name=lod=173 0.000077 ID=COSM99602,COSM99021,COSM99020,COSM10662;OCCURENCE=3(vulva),29(ovary),6(bone),73(breast),33(stomach),67(haematopoietic_and_lymphoid_tissue),1(soft_tissue),2(kidney),37(urinary_tract),9(pancreas),1(peritoneum),6(liver),38(oesophagus),1(pituitary),1(adrenal_gland),10(skin),5(prostate),19(lung),3(cervix),2(thyroid),32(upper_aerodigestive_tract),142(large_intestine),37(central_nervous_system),1(small_intestine),4(biliary_tract),11(endometrium) 0.041 rs11540652 0.01 0.979252 C 0.98 D 1.0 D 1.0 D 1.0 D 3.05 45 13 0.224 64 0 0.000 2.87306623182079781e-05 0.385 --- 44,35,9,0.205 49,49,0,0.000 3.132 5.063 chr20 33876381 33876381 C T exonic FAM83C nonsynonymous SNV FAM83C:NM_178468:exon3:c.G689A:p.R230H Score=451;Name=lod=91 0 0.998129 C 0.99 D 1.0 D 0.993202 N 0.993418 D 4.45 368 46 0.111 244 0 0.000 2.74368927209466796e-10 0.391 --- 347,307,39,0.113 212,212,0,0.000 8.385 11.978 chr20 57899443 57899443 A C exonic EDN3 nonsynonymous SNV EDN3:NM_207033:exon4:c.A604C:p.M202L,EDN3:NM_000114:exon5:c.A646C:p.M216L,EDN3:NM_207034:exon5:c.A646C:p.M216L 0.13 0.002323 N 1.0 D 0.0 B 0.556561 NA 1.0E-6 N -5.8 175 23 0.116 236 0 0.000 6.94169606980409128e-09 0.000 --- 197,148,49,0.249 171,171,0,0.000 14.384 11.005 chr22 36661827 36661827 T G exonic APOL1 synonymous SNV APOL1:NM_001136541:exon5:c.T891G:p.G297G,APOL1:NM_001136540:exon6:c.T945G:p.G315G,APOL1:NM_003661:exon6:c.T945G:p.G315G,APOL1:NM_145343:exon7:c.T993G:p.G331G Score=0.909256;Name=chr22:36620662 239 38 0.137 247 0 0.000 1.22269764990572703e-11 0.000 --- 322,242,80,0.248 219,219,0,0.000 19.832 15.654 chrX 134992676 134992676 C A exonic SAGE1 nonsynonymous SNV SAGE1:NM_018666:exon16:c.C1967A:p.A656E 0.58 0.865113 N 1.0 D 0.03 B 0.979687 N 5.8E-5 N 0.185 70 19 0.213 74 0 0.000 6.06673683532052845e-06 0.526 --- 70,54,16,0.229 55,55,0,0.000 4.271 6.85