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 1290315 1290315 G A exonic MXRA8 synonymous SNV MXRA8:NM_032348:exon5:c.C696T:p.R232R Score=456;Name=lod=95 217 53 0.196 359 0 0.000 1.37043687129438105e-21 0.472 --- 234,186,48,0.205 308,308,0,0.000 18.830 60 chr1 11733702 11733702 G A exonic FBXO6 nonsynonymous SNV FBXO6:NM_018438:exon6:c.G676A:p.G226S Score=265;Name=lod=16 0 0.999677 C 1.0 D 0.987 D 1.0 D 0.996804 D 5.37 111 26 0.190 143 0 0.000 2.22776969189486989e-09 0.577 --- 116,93,23,0.198 127,127,0,0.000 7.935 15.0 chr1 18661400 18661400 G A exonic IGSF21 nonsynonymous SNV IGSF21:NM_032880:exon4:c.G320A:p.R107Q Score=497;Name=lod=140 0.000231 rs139350650 0.15 0.992076 C 0.74 T 0.351 P 0.999999 D 0.80927 D 4.1 55 9 0.141 103 0 0.000 0.000123179442112044005 0.889 --- 52,44,8,0.154 85,85,0,0.000 3.521 6.713 chr1 32798622 32798622 A G exonic HDAC1 nonsynonymous SNV HDAC1:NM_004964:exon14:c.A1426G:p.K476E Score=512;Name=lod=160 0.08 0.974767 C 0.76 T 0.08 B 0.992969 N 1.0 D 3.46 55 9 0.141 93 0 0.000 0.000217806092093398579 0.667 --- 49,43,6,0.122 78,78,0,0.000 2.568 6.359 chr1 37270625 37270625 A G exonic GRIK3 nonsynonymous SNV GRIK3:NM_000831:exon15:c.T2528C:p.F843S Score=532;Name=lod=193 0 0.994351 C 1.0 D 0.966 D 1.0 D 0.92538 D 3.84 93 33 0.262 197 0 0.000 1.7507797436289936e-15 0.636 --- 111,82,29,0.261 166,165,0,0.000 12.555 60 chr1 44595385 44595385 G A exonic KLF17 nonsynonymous SNV KLF17:NM_173484:exon2:c.G442A:p.G148S Score=0.900223;Name=chr12:62625441 0.000154 rs145084649 1 0.033035 N 0.35 T 0.0 B 0.597352 N 6.4E-4 N -4.38 119 26 0.179 172 0 0.000 3.88712620826800484e-10 0.462 --- 121,98,23,0.190 142,141,0,0.000 8.255 60 chr1 154471631 154471631 G A exonic SHE synonymous SNV SHE:NM_001010846:exon2:c.C675T:p.N225N Score=369;Name=lod=42 115 50 0.303 181 0 0.000 8.53175955618625918e-19 0.480 --- 124,90,34,0.274 139,139,0,0.000 12.304 60 chr1 173604852 173604852 C T exonic LOC730159 synonymous SNV LOC730159:NM_001195190:exon1:c.C192T:p.C64C 122 35 0.223 159 0 0.000 2.72227211691168764e-12 0.514 --- 132,99,33,0.250 132,132,0,0.000 10.627 60 chr1 202287777 202287777 C G exonic LGR6 nonsynonymous SNV LGR6:NM_001017404:exon16:c.C1929G:p.D643E,LGR6:NM_001017403:exon18:c.C2346G:p.D782E,LGR6:NM_021636:exon18:c.C2190G:p.D730E Score=620;Name=lod=443 0.01 0.022593 N 0.96 D 0.86 D 0.999997 D 0.055406 N -4.01 174 58 0.250 276 0 0.000 2.19083466923985586e-22 0.500 --- 196,144,52,0.265 242,242,0,0.000 20.026 60 chr1 237955536 237955536 C A exonic RYR2 nonsynonymous SNV RYR2:NM_001035:exon94:c.C13695A:p.S4565R 0.13 97 35 0.265 163 0 0.000 3.41877724687540375e-14 0.400 --- 107,78,29,0.271 130,130,0,0.000 11.057 14.085 chr1 237955557 237955557 G C exonic RYR2 nonsynonymous SNV RYR2:NM_001035:exon94:c.G13716C:p.L4572F Score=284;Name=lod=19 0 97 31 0.242 168 0 0.000 5.01127403646119282e-13 0.387 --- 102,78,23,0.228 136,136,0,0.000 9.220 12.787 chr2 11772121 11772121 C T exonic GREB1 synonymous SNV GREB1:NM_014668:exon27:c.C4698T:p.D1566D ID=COSM441040;OCCURENCE=1(breast) 80 16 0.167 124 0 0.000 8.04517800821833574e-07 0.375 --- 74,60,14,0.189 96,96,0,0.000 5.388 8.672 chr2 16740819 16740819 A C exonic FAM49A nonsynonymous SNV FAM49A:NM_030797:exon10:c.T746G:p.L249R Score=531;Name=lod=191 0.26 0.998798 C 0.79 T 0.03 B 1.0 D 0.999942 D 5.0 146 18 0.110 196 0 0.000 4.1781835356697473e-07 0.444 --- 128,116,12,0.094 160,160,0,0.000 4.356 8.088 chr2 84821148 84821148 T G exonic DNAH6 nonsynonymous SNV DNAH6:NM_001370:exon17:c.T2663G:p.L888R Score=496;Name=lod=138 0.01 68 12 0.150 100 0 0.000 3.62864733546603607e-05 0.750 --- 64,53,10,0.159 81,81,0,0.000 3.779 9.384 chr2 97338969 97338969 G A exonic FER1L5 synonymous SNV FER1L5:NM_001113382:exon18:c.G1632A:p.P544P Score=515;Name=lod=165 138 18 0.115 159 0 0.000 1.90014538091693933e-06 0.333 --- 129,113,16,0.124 130,130,0,0.000 5.059 5.976 chr2 165946668 165946668 G A exonic SCN3A stopgain SCN3A:NM_001081676:exon28:c.C5848T:p.Q1950X,SCN3A:NM_001081677:exon28:c.C5848T:p.Q1950X,SCN3A:NM_006922:exon28:c.C5995T:p.Q1999X Score=714;Name=lod=1068 1 0.995429 C 0.781845 NA 0.414635 NA 0.864561 N 3.91E-4 N 3.07 104 36 0.257 137 0 0.000 2.33435521399334399e-12 0.611 --- 114,86,28,0.246 112,112,0,0.000 8.941 8.976 chr2 179594202 179594202 C T exonic TTN synonymous SNV TTN:NM_133378:exon61:c.G14949A:p.P4983P,TTN:NM_001256850:exon62:c.G17730A:p.P5910P,TTN:NM_001267550:exon64:c.G18681A:p.P6227P 0.000083 169 105 0.383 348 0 0.000 4.29046532199972158e-44 0.448 --- 230,143,87,0.378 306,305,0,0.000 36.848 60 chr2 219206830 219206830 C T exonic PNKD synonymous SNV PNKD:NM_022572:exon6:c.C672T:p.C224C,PNKD:NM_015488:exon7:c.C744T:p.C248C Score=642;Name=lod=543 71 15 0.174 84 0 0.000 3.15787369614564415e-05 0.467 --- 66,56,10,0.152 66,66,0,0.000 2.869 8.378 chr2 233350967 233350967 C T exonic ECEL1 nonsynonymous SNV ECEL1:NM_004826:exon2:c.G397A:p.G133S Score=683;Name=lod=796 0.01 0.964846 C 0.98 D 0.993 D 1.0 D 0.998854 D 3.19 210 127 0.377 409 0 0.000 1.58744018160614725e-51 0.449 --- 291,182,109,0.375 345,345,0,0.000 42.884 12.304 chr3 12977467 12977467 G A exonic IQSEC1 nonsynonymous SNV IQSEC1:NM_001134382:exon3:c.C1049T:p.S350L,IQSEC1:NM_014869:exon3:c.C1091T:p.S364L Score=278;Name=lod=18 0.000081 0.04 0.999418 C 0.93 T 0.673 P 1.0 D 0.752582 D 4.4 162 48 0.229 281 0 0.000 6.22913585933184391e-20 0.604 --- 187,142,45,0.241 239,239,0,0.000 17.551 13.656 chr3 124492709 124492709 C G exonic ITGB5 nonsynonymous SNV ITGB5:NM_002213:exon11:c.G1744C:p.G582R Score=536;Name=lod=201 0 0.998697 C 1.0 D 0.994 D 1.0 D 0.999999 D 4.59 102 23 0.184 146 0 0.000 5.63269634881332447e-09 0.435 --- 107,88,18,0.170 124,123,0,0.000 6.388 9.76 chr3 142281121 142281121 T C exonic ATR nonsynonymous SNV ATR:NM_001184:exon4:c.A1123G:p.I375V Score=387;Name=lod=50 0.09 0.998014 C 0.2 T 0.0050 B 0.999889 D 0.012146 N 5.32 179 38 0.175 243 0 0.000 6.12877633016827876e-14 0.553 --- 171,142,29,0.170 193,193,0,0.000 10.111 60 chr3 159605683 159605683 G A exonic IQCJ-SCHIP1,SCHIP1 nonsynonymous SNV SCHIP1:NM_001197108:exon4:c.G487A:p.V163I,SCHIP1:NM_001197109:exon4:c.G454A:p.V152I,SCHIP1:NM_001197107:exon5:c.G1144A:p.V382I,SCHIP1:NM_014575:exon5:c.G1183A:p.V395I,IQCJ-SCHIP1:NM_001197114:exon7:c.G1330A:p.V444I,IQCJ-SCHIP1:NM_001197113:exon8:c.G1411A:p.V471I Score=468;Name=lod=106 0.000077 rs143827102 0.41 0.999615 C 0.73 T 0.924 D 1.0 D 0.996464 D 5.22 182 41 0.184 325 0 0.000 8.9842203987768486e-18 0.463 --- 183,148,35,0.191 258,258,0,0.000 14.278 9.314 chr3 167250718 167250718 C A exonic WDR49 nonsynonymous SNV WDR49:NM_178824:exon8:c.G946T:p.A316S Score=366;Name=lod=41 0.02 0.999117 C 0.88 T 0.47 P 0.997616 N 0.00278 N 5.47 67 20 0.230 113 0 0.000 1.47215790156075257e-08 0.500 --- 74,59,15,0.203 97,97,0,0.000 5.843 60 chr3 178936082 178936082 G A exonic PIK3CA nonsynonymous SNV PIK3CA:NM_006218:exon10:c.G1624A:p.E542K Score=549;Name=lod=228 Score=0.979452;Name=chr22:17049389 ID=COSM760,COSM125369;OCCURENCE=18(ovary),183(breast),4(penis),2(haematopoietic_and_lymphoid_tissue),17(stomach),2(kidney),2(soft_tissue),44(urinary_tract),6(liver),9(oesophagus),1(pituitary),19(skin),1(prostate),9(lung),14(thyroid),7(cervix),8(upper_aerodigestive_tract),166(large_intestine),7(central_nervous_system),1(biliary_tract),52(endometrium) rs121913273 0.04 0.999704 C 0.935844 NA 0.889 D 1.0 D 0.998979 D 5.43 46 9 0.164 82 0 0.000 0.000177493742007036755 0.556 --- 44,37,7,0.159 64,64,0,0.000 2.862 8.209 chr3 196737619 196737619 G A exonic MFI2 nonsynonymous SNV MFI2:NM_005929:exon10:c.C1280T:p.T427M 0.2 0.007673 N 0.84 T 0.037 B 0.679282 N 7.5E-4 N -10.3 116 21 0.153 191 0 0.000 4.17037168411284351e-09 0.429 --- 105,89,16,0.152 141,141,0,0.000 6.222 11.471 chr5 34033433 34033433 G A exonic C1QTNF3 synonymous SNV C1QTNF3:NM_030945:exon3:c.C327T:p.Y109Y,C1QTNF3:NM_181435:exon3:c.C546T:p.Y182Y Score=519;Name=lod=172 116 27 0.189 213 0 0.000 4.03124472799052672e-12 0.593 --- 120,97,22,0.185 173,173,0,0.000 9.123 8.192 chr5 112175507 112175507 C T exonic APC stopgain APC:NM_001127511:exon14:c.C4162T:p.Q1388X,APC:NM_000038:exon16:c.C4216T:p.Q1406X,APC:NM_001127510:exon17:c.C4216T:p.Q1406X Score=567;Name=lod=268 ID=COSM19087;OCCURENCE=18(large_intestine) 0.53 0.988781 C 0.902973 NA 0.733706 NA 0.999948 D 1.0 D 4.83 106 23 0.178 188 0 0.000 2.93909715751224418e-10 0.478 --- 111,90,19,0.174 167,166,0,0.000 8.083 12.655 chr5 115298973 115298973 T C exonic AQPEP nonsynonymous SNV AQPEP:NM_173800:exon1:c.T659C:p.L220P Score=309;Name=lod=24 0.01 0.994667 C 0.99 D 0.978 D 0.98607 N 0.309354 N 4.25 109 35 0.243 249 0 0.000 2.87543374045401734e-17 0.314 --- 126,96,30,0.238 222,222,0,0.000 14.310 15.477 chr5 140176753 140176753 G A exonic PCDHA2 nonsynonymous SNV PCDHA2:NM_018905:exon1:c.G2204A:p.G735E,PCDHA2:NM_031495:exon1:c.G2204A:p.G735E 0.12 0.848305 N 0.83 T 0.47149 NA 0.976063 U 0.119193 N -1.45 197 29 0.128 248 0 0.000 1.72196757699968577e-10 0.483 --- 190,163,27,0.142 207,207,0,0.000 9.091 13.187 chr5 140216146 140216146 G A exonic PCDHA7 synonymous SNV PCDHA7:NM_018910:exon1:c.G2178A:p.P726P,PCDHA7:NM_031852:exon1:c.G2178A:p.P726P Score=0.911161;Name=chr5:140228158 127 42 0.249 178 0 0.000 3.80955266960995988e-15 0.452 --- 145,106,39,0.269 158,158,0,0.000 13.820 60 chr5 140308392 140308392 C T exonic PCDHAC1 nonsynonymous SNV PCDHAC1:NM_018898:exon1:c.C1915T:p.R639W,PCDHAC1:NM_031882:exon1:c.C1915T:p.R639W 0 0.981846 C 1.0 D 0.534868 NA 0.853543 NA 0.010577 N 4.32 138 26 0.159 202 0 0.000 2.63802543103405789e-10 0.654 --- 142,116,25,0.177 169,169,0,0.000 9.104 10.411 chr5 162880976 162880976 T C exonic NUDCD2 synonymous SNV NUDCD2:NM_145266:exon4:c.A471G:p.K157K Score=645;Name=lod=558 0.001230 0.01 rs137919306 40 10 0.200 79 0 0.000 4.17727052543027093e-05 0.700 --- 36,28,8,0.222 59,59,0,0.000 3.604 8.639 chr5 169533534 169533534 G A exonic FOXI1 synonymous SNV FOXI1:NM_012188:exon1:c.G573A:p.P191P,FOXI1:NM_144769:exon1:c.G573A:p.P191P Score=486;Name=lod=126 0.000231 ID=COSM1496050;OCCURENCE=1(kidney) 0.025 rs200309754 191 44 0.187 269 0 0.000 2.46796491096460783e-16 0.364 --- 197,162,34,0.173 221,221,0,0.000 11.868 60 chr6 31855435 31855435 G A exonic EHMT2 nonsynonymous SNV EHMT2:NM_025256:exon14:c.C1828T:p.R610W,EHMT2:NM_006709:exon15:c.C1930T:p.R644W Score=469;Name=lod=107 0 0.803225 N 0.99 D 0.999 D 0.999962 D 0.943416 D -2.72 89 11 0.110 132 0 0.000 6.86261402861436856e-05 0.818 --- 93,82,11,0.118 120,119,0,0.000 4.089 7.91 chr6 37616851 37616851 G A exonic MDGA1 nonsynonymous SNV MDGA1:NM_153487:exon9:c.C1801T:p.R601C Score=429;Name=lod=74 0.02 191 47 0.197 298 0 0.000 1.64232979481001057e-18 0.574 --- 198,158,40,0.202 257,255,0,0.000 15.444 10.275 chr6 49519156 49519156 A C exonic C6orf141 synonymous SNV C6orf141:NM_001145652:exon1:c.A651C:p.A217A 153 38 0.199 232 0 0.000 8.08504094128947619e-15 0.421 --- 176,142,34,0.193 193,192,0,0.000 11.690 60 chr6 76744384 76744384 C T exonic IMPG1 nonsynonymous SNV IMPG1:NM_001563:exon3:c.G422A:p.G141E Score=546;Name=lod=221 ID=COSM232537;OCCURENCE=1(skin) 0 0.999065 C 0.99 D 0.995 D 0.999997 D 0.995771 D 5.42 96 11 0.103 162 0 0.000 2.85104205871999033e-05 0.727 --- 89,81,8,0.090 135,135,0,0.000 3.293 5.368 chr6 106960437 106960437 C G exonic AIM1 nonsynonymous SNV AIM1:NM_001624:exon1:c.C221G:p.A74G 0.32 0.209397 N 1.0 D 0.0030 B 0.293858 N 9.42E-4 N -2.8 259 76 0.227 305 0 0.000 4.50909326159749629e-24 0.474 --- 292,227,64,0.220 270,270,0,0.000 19.731 60 chr6 146254280 146254280 G A exonic SHPRH stopgain SHPRH:NM_001042683:exon14:c.C3025T:p.Q1009X,SHPRH:NM_173082:exon14:c.C3052T:p.Q1018X Score=586;Name=lod=320 0.06 0.999647 C 0.903841 NA 0.735497 NA 0.999971 D 1.0 A 5.3 160 28 0.149 221 0 0.000 1.0956044199506335e-10 0.464 --- 137,114,22,0.162 180,179,0,0.000 8.479 8.4 chr7 4899954 4899954 C T exonic PAPOLB synonymous SNV PAPOLB:NM_020144:exon1:c.G1488A:p.Q496Q Score=511;Name=lod=159 91 11 0.108 165 0 0.000 1.78230420048941555e-05 0.273 --- 86,74,12,0.140 138,138,0,0.000 5.208 7.927 chr7 43436461 43436461 C T exonic HECW1 nonsynonymous SNV HECW1:NM_015052:exon7:c.C604T:p.R202W Score=525;Name=lod=181 0 0.923622 N 1.0 D 1.0 D 1.0 D 0.999056 D 3.23 55 13 0.191 83 0 0.000 1.56629653924313576e-05 0.538 --- 51,43,8,0.157 69,69,0,0.000 3.120 7.524 chr7 100490238 100490238 G A exonic ACHE nonsynonymous SNV ACHE:NM_000665:exon3:c.C1270T:p.R424C,ACHE:NM_015831:exon3:c.C1270T:p.R424C 0.01 0.99866 C 0.98 D 0.955 D 0.99902 N 0.25797 N 3.77 229 54 0.191 356 0 0.000 3.55751831787654391e-21 0.463 --- 237,195,41,0.174 307,307,0,0.000 15.768 10.339 chr7 136699781 136699781 G A exonic CHRM2 nonsynonymous SNV CHRM2:NM_001006629:exon2:c.G169A:p.V57I,CHRM2:NM_001006627:exon3:c.G169A:p.V57I,CHRM2:NM_001006628:exon3:c.G169A:p.V57I,CHRM2:NM_001006632:exon3:c.G169A:p.V57I,CHRM2:NM_000739:exon4:c.G169A:p.V57I,CHRM2:NM_001006630:exon4:c.G169A:p.V57I,CHRM2:NM_001006631:exon4:c.G169A:p.V57I,CHRM2:NM_001006626:exon5:c.G169A:p.V57I Score=719;Name=lod=1113 0.000077 ID=COSM452408;OCCURENCE=1(breast) rs143842239 0 0.999371 C 0.91 T 0.782 P 1.0 D 0.86077 D 4.86 142 32 0.184 221 0 0.000 7.02462000314567231e-13 0.469 --- 153,125,28,0.183 188,188,0,0.000 10.395 12.361 chr7 156798276 156798276 C T exonic MNX1 nonsynonymous SNV MNX1:NM_001165255:exon3:c.G508A:p.D170N,MNX1:NM_005515:exon3:c.G1144A:p.D382N Score=419;Name=lod=67 0.07 0.995236 C 0.95 T 0.745981 NA 0.999349 U 0.935795 D 3.93 137 35 0.203 194 0 0.000 4.33209476093106204e-13 0.771 --- 135,108,27,0.200 152,152,0,0.000 9.507 13.261 chr8 19809404 19809404 C T exonic LPL nonsynonymous SNV LPL:NM_000237:exon3:c.C374T:p.A125V Score=457;Name=lod=96 0.74 0.944796 N 0.35 T 0.037 B 1.0 D 0.979725 D 3.27 86 30 0.259 199 0 0.000 6.55195316676366509e-15 0.467 --- 93,68,24,0.261 153,153,0,0.000 11.134 15.477 chr8 113241106 113241106 C A exonic CSMD3 stopgain CSMD3:NM_052900:exon68:c.G10336T:p.E3446X,CSMD3:NM_198123:exon70:c.G10843T:p.E3615X,CSMD3:NM_198124:exon71:c.G10723T:p.E3575X Score=708;Name=lod=1007 0.17 0.999209 C 0.903805 NA 0.73543 NA 1.0 D 1.0 A 5.58 60 17 0.221 83 0 0.000 1.42639048998646039e-06 0.294 --- 68,53,15,0.221 69,69,0,0.000 4.942 7.587 chr9 21202102 21202102 A C exonic IFNA7 synonymous SNV IFNA7:NM_021057:exon1:c.T63G:p.S21S Score=0.942811;Name=chr9:21165785 141 31 0.180 198 0 0.000 9.95804552831263494e-12 0.323 --- 144,118,26,0.181 162,162,0,0.000 9.080 15.955 chr9 98215819 98215819 G A exonic PTCH1 synonymous SNV PTCH1:NM_000264:exon20:c.C3390T:p.A1130A,PTCH1:NM_001083602:exon20:c.C3192T:p.A1064A,PTCH1:NM_001083603:exon20:c.C3387T:p.A1129A,PTCH1:NM_001083604:exon20:c.C2937T:p.A979A,PTCH1:NM_001083605:exon20:c.C2937T:p.A979A,PTCH1:NM_001083606:exon20:c.C2937T:p.A979A,PTCH1:NM_001083607:exon20:c.C2937T:p.A979A 154 33 0.176 222 0 0.000 1.13722169688794269e-12 0.515 --- 156,125,30,0.194 173,173,0,0.000 10.477 13.674 chr9 100971220 100971220 G A exonic TBC1D2 nonsynonymous SNV TBC1D2:NM_001267572:exon3:c.C500T:p.P167L,TBC1D2:NM_001267571:exon9:c.C1880T:p.P627L,TBC1D2:NM_018421:exon9:c.C1880T:p.P627L Score=363;Name=lod=40 0 0.999676 C 1.0 D 0.992 D 1.0 D 0.942403 D 5.03 168 51 0.233 277 1 0.004 5.87854349988596383e-19 0.529 1.000 193,148,44,0.229 241,240,1,0.004 15.429 60 chr10 73330663 73330663 G A exonic CDH23 synonymous SNV CDH23:NM_001171930:exon8:c.G741A:p.E247E,CDH23:NM_001171931:exon8:c.G741A:p.E247E,CDH23:NM_001171932:exon8:c.G741A:p.E247E,CDH23:NM_022124:exon8:c.G741A:p.E247E,CDH23:NM_052836:exon8:c.G741A:p.E247E Score=480;Name=lod=119 132 33 0.200 153 0 0.000 7.5636644738253171e-11 0.303 --- 134,105,29,0.216 125,125,0,0.000 8.970 60 chr10 101824969 101824969 C T exonic CPN1 synonymous SNV CPN1:NM_001308:exon4:c.G735A:p.T245T 154 39 0.202 214 0 0.000 2.44652287627925321e-14 0.487 --- 151,123,27,0.180 177,177,0,0.000 9.741 15.353 chr11 55322458 55322458 G A exonic OR4C15 nonsynonymous SNV OR4C15:NM_001001920:exon1:c.G676A:p.V226I 0.18 0.95 N 0.63 T 0.321206 NA 0.846816 NA 1.1E-4 N 2.53 134 33 0.198 227 0 0.000 6.68286276886235608e-14 0.515 --- 137,110,26,0.191 186,186,0,0.000 10.391 60 chr11 64081759 64081759 G A exonic ESRRA nonsynonymous SNV ESRRA:NM_004451:exon4:c.G491A:p.R164Q Score=583;Name=lod=311 Score=0.948593;Name=chr13:20133398 0.08 0.99882 C 0.808899 NA 0.282 P 1.0 D 0.997264 D 4.06 155 25 0.139 205 0 0.000 2.14794177915965777e-09 0.440 --- 152,131,21,0.138 165,165,0,0.000 7.038 5.612 chr12 10010225 10010225 G A exonic CLEC2B stopgain CLEC2B:NM_005127:exon3:c.C85T:p.R29X ID=COSM1510419;OCCURENCE=1(lung) 0.84 8.97E-4 N 0.840185 NA 0.395022 NA 1.0E-6 N 1.0 A -4.22 66 12 0.154 128 0 0.000 4.93783495631643481e-06 0.250 --- 61,51,10,0.164 96,96,0,0.000 4.317 5.004 chr12 43847821 43847821 G A exonic ADAMTS20 nonsynonymous SNV ADAMTS20:NM_025003:exon12:c.C1649T:p.T550M Score=562;Name=lod=257 ID=COSM50782,COSM1361599;OCCURENCE=2(large_intestine) 0.45 103 43 0.295 227 0 0.000 3.84200762315101361e-20 0.535 --- 116,84,32,0.276 178,176,0,0.000 14.116 60 chr12 56721171 56721171 C T exonic PAN2 nonsynonymous SNV PAN2:NM_001127460:exon6:c.G896A:p.R299H,PAN2:NM_001166279:exon6:c.G896A:p.R299H,PAN2:NM_014871:exon6:c.G896A:p.R299H Score=611;Name=lod=406 0 0.998924 C 0.96 D 0.999 D 1.0 D 0.993141 D 4.96 89 10 0.101 140 0 0.000 0.000112514300792142472 0.600 --- 88,79,8,0.092 125,125,0,0.000 3.180 5.049 chr12 113810525 113810525 C T exonic PLBD2 synonymous SNV PLBD2:NM_001159727:exon3:c.C456T:p.C152C,PLBD2:NM_173542:exon3:c.C456T:p.C152C Score=559;Name=lod=250 86 17 0.165 174 0 0.000 2.02720207436438076e-08 0.471 --- 92,74,18,0.196 152,151,0,0.000 8.085 11.075 chr13 52707881 52707881 G A exonic NEK3 synonymous SNV NEK3:NM_001146099:exon14:c.C1329T:p.H443H,NEK3:NM_002498:exon15:c.C1380T:p.H460H,NEK3:NM_152720:exon15:c.C1380T:p.H460H 0.000082 128 100 0.439 211 0 0.000 7.51541954785961514e-35 0.380 --- 195,112,83,0.426 172,172,0,0.000 27.104 60 chr13 113960863 113960863 T C exonic LAMP1 nonsynonymous SNV LAMP1:NM_005561:exon2:c.T125C:p.I42T 0 0.996973 C 1.0 D 0.376 P 1.0 D 0.999944 D 4.88 124 50 0.287 140 0 0.000 4.8307819952285801e-15 0.440 --- 125,88,37,0.296 113,113,0,0.000 11.411 60 chr14 24791912 24791912 G T exonic ADCY4 nonsynonymous SNV ADCY4:NM_001198568:exon19:c.C2345A:p.P782H,ADCY4:NM_001198592:exon20:c.C2345A:p.P782H,ADCY4:NM_139247:exon20:c.C2345A:p.P782H Score=560;Name=lod=252 0.08 0.999255 C 0.47 T 0.996 D 0.999679 D 0.987071 D 4.2 91 20 0.180 164 0 0.000 4.3253609188879712e-09 0.400 --- 102,83,19,0.186 135,135,0,0.000 7.412 11.136 chr14 64746840 64746840 G A exonic ESR2 nonsynonymous SNV ESR2:NM_001214902:exon2:c.C394T:p.R132C,ESR2:NM_001214903:exon2:c.C394T:p.R132C,ESR2:NM_001271876:exon2:c.C394T:p.R132C,ESR2:NM_001271877:exon2:c.C394T:p.R132C,ESR2:NM_001040275:exon3:c.C394T:p.R132C,ESR2:NM_001437:exon3:c.C394T:p.R132C 0.01 0.239867 N 0.99 D 0.0030 B 0.924235 N 1.01E-4 N 1.8 52 19 0.268 124 0 0.000 8.05099453876401161e-10 0.316 --- 61,45,16,0.262 95,95,0,0.000 7.117 13.555 chr14 102028704 102028704 C T exonic DIO3 unknown UNKNOWN Score=417;Name=lod=66 0.93529 N 0.957847 NA 0.998 D 0.956176 U 0.996496 D 2.08 90 23 0.204 178 0 0.000 7.84821630793328323e-11 0.478 --- 104,81,22,0.214 154,154,0,0.000 9.384 60 chr15 44949466 44949466 A G exonic SPG11 synonymous SNV SPG11:NM_001160227:exon4:c.T696C:p.Y232Y,SPG11:NM_025137:exon4:c.T696C:p.Y232Y rs111583187 72 32 0.308 161 0 0.000 3.38119400386920553e-15 0.344 --- 91,63,28,0.308 137,137,0,0.000 12.438 60 chr15 75913234 75913234 C T splicing SNUPN NM_005701:exon3:c.158+1G>A,NM_001042588:exon3:c.158+1G>A,NM_001042581:exon3:c.158+1G>A Score=462;Name=lod=101 62 19 0.235 78 0 0.000 1.21461433003083721e-06 0.684 --- 65,49,16,0.246 67,67,0,0.000 5.386 6.331 chr15 89398630 89398630 C T exonic ACAN synonymous SNV ACAN:NM_001135:exon12:c.C2814T:p.P938P,ACAN:NM_013227:exon12:c.C2814T:p.P938P 210 110 0.344 420 0 0.000 2.46310983080485717e-46 0.700 --- 290,185,104,0.360 388,386,0,0.000 43.908 60 chr16 3707018 3707018 T C exonic DNASE1 nonsynonymous SNV DNASE1:NM_005223:exon6:c.T455C:p.I152T Score=349;Name=lod=35 0.01 0.99646 C 0.99 D 0.264 P 0.999351 N 0.480807 N 4.69 174 32 0.155 307 0 0.000 4.41872377424728388e-14 0.688 --- 190,161,27,0.144 251,250,0,0.000 10.414 12.308 chr16 61747787 61747787 C G exonic CDH8 nonsynonymous SNV CDH8:NM_001796:exon10:c.G1612C:p.E538Q Score=682;Name=lod=790 0.03 0.987556 C 0.92 T 0.579 P 1.0 D 0.699039 D 4.97 54 6 0.100 77 0 0.000 0.00609162574133767971 0.500 --- 48,43,5,0.104 62,62,0,0.000 1.854 5.614 chr16 65026878 65026878 C T exonic CDH11 nonsynonymous SNV CDH11:NM_001797:exon5:c.G583A:p.A195T Score=506;Name=lod=152 0 0.999197 C 0.99 D 0.0050 B 1.0 D 0.99934 D 5.57 62 14 0.184 97 0 0.000 4.78093176363500005e-06 0.500 --- 64,54,10,0.156 70,70,0,0.000 3.382 14.085 chr16 66436916 66436916 C T exonic CDH5 synonymous SNV CDH5:NM_001795:exon12:c.C2199T:p.Y733Y Score=521;Name=lod=174 126 26 0.171 216 0 0.000 2.65003550308638646e-11 0.308 --- 133,110,23,0.173 192,192,0,0.000 9.456 12.081 chr16 68112725 68112725 C T exonic DUS2L nonsynonymous SNV DUS2L:NM_001271763:exon15:c.C1213T:p.R405W,DUS2L:NM_001271762:exon16:c.C1318T:p.R440W,DUS2L:NM_017803:exon17:c.C1318T:p.R440W Score=566;Name=lod=266 0.000616 0.02 rs116991581 0 0.998817 C 1.0 D 0.969 D 0.997431 N 0.921027 D 3.49 171 52 0.233 202 0 0.000 1.33706995313025387e-16 0.692 --- 183,140,43,0.235 164,164,0,0.000 12.988 14.913 chr16 76555113 76555113 C T exonic CNTNAP4 synonymous SNV CNTNAP4:NM_138994:exon15:c.C2223T:p.S741S Score=405;Name=lod=59 99 24 0.195 171 0 0.000 1.9639408853999631e-10 0.417 --- 101,81,20,0.198 140,139,0,0.000 8.040 15.955 chr17 5033675 5033675 G T exonic USP6 stopgain USP6:NM_004505:exon2:c.G13T:p.E5X Score=607;Name=lod=389 Score=0.947272;Name=chr17:18295494 0 0.820952 N 0.889566 NA 0.706113 NA 1.0 D 1.0 A 0.0465 89 12 0.119 129 0 0.000 3.48860535371426017e-05 0.750 --- 84,73,10,0.120 104,104,0,0.000 3.666 5.677 chr18 12453121 12453121 C T exonic SPIRE1 nonsynonymous SNV SPIRE1:NM_001128627:exon13:c.G1391A:p.R464Q,SPIRE1:NM_020148:exon13:c.G1751A:p.R584Q,SPIRE1:NM_001128626:exon14:c.G1793A:p.R598Q Score=634;Name=lod=505 0.999157 C 0.63 T 0.952 D 1.0 D 0.998278 D 5.52 35 7 0.167 82 0 0.000 0.000358396165590226886 0.571 --- 34,28,6,0.176 68,68,0,0.000 3.001 5.592 chr18 31319710 31319710 C T exonic ASXL3 nonsynonymous SNV ASXL3:NM_030632:exon11:c.C2342T:p.P781L Score=278;Name=lod=18 0.000333 rs201776257 0 145 36 0.199 234 0 0.000 1.21386853256796368e-14 0.417 --- 150,121,29,0.193 202,202,0,0.000 11.486 15.051 chr19 4896760 4896760 C T exonic ARRDC5 nonsynonymous SNV ARRDC5:NM_001080523:exon2:c.G424A:p.E142K Score=329;Name=lod=29 0.13 88 18 0.170 114 0 0.000 8.66471294475045423e-07 0.556 --- 79,67,12,0.152 93,93,0,0.000 4.266 12.391 chr19 7553870 7553870 C A exonic PEX11G synonymous SNV PEX11G:NM_001270539:exon1:c.G27T:p.S9S,PEX11G:NM_080662:exon1:c.G27T:p.S9S Score=550;Name=lod=230 93 19 0.170 169 0 0.000 9.48582487268937532e-09 0.316 --- 95,77,18,0.189 127,127,0,0.000 7.075 7.96 chr19 7677533 7677533 G T exonic CAMSAP3 nonsynonymous SNV CAMSAP3:NM_020902:exon11:c.G2154T:p.Q718H,CAMSAP3:NM_001080429:exon13:c.G2235T:p.Q745H Score=559;Name=lod=249 0 0.973272 C 1.0 D 0.774246 NA 0.999998 D 0.948604 D 2.97 154 23 0.130 212 0 0.000 5.93918426493765758e-09 0.609 --- 155,134,21,0.135 181,181,0,0.000 7.395 7.086 chr19 38384050 38384050 T C exonic WDR87 nonsynonymous SNV WDR87:NM_031951:exon4:c.A2176G:p.M726V 0.43 185 49 0.209 290 0 0.000 3.15704271256248088e-19 0.510 --- 204,161,43,0.211 245,245,0,0.000 15.902 15.955 chr19 39281393 39281393 C T exonic LGALS7B nonsynonymous SNV LGALS7B:NM_001042507:exon3:c.C160T:p.R54W Score=355;Name=lod=37 Score=0.951132;Name=chr19:39259970 0 0.752845 N 1.0 D 1.0 D 0.999106 N 0.999936 D -0.00552 237 36 0.132 295 0 0.000 9.74207140332546196e-13 0.611 --- 205,180,25,0.122 212,212,0,0.000 8.053 9.355 chr19 46443394 46443394 A C exonic NOVA2 synonymous SNV NOVA2:NM_002516:exon4:c.T1206G:p.A402A Score=742;Name=lod=1387 60 8 0.118 107 0 0.000 0.000398547592853171756 0.000 --- 86,64,22,0.256 100,100,0,0.000 8.087 5.851 chr19 46914908 46914908 G C exonic CCDC8 nonsynonymous SNV CCDC8:NM_032040:exon1:c.C1160G:p.A387G 0.12 0.84935 N 0.85 T 0.0 B 0.911643 N 0.103624 N 0.0951 239 48 0.167 371 0 0.000 4.53774790969909412e-19 0.604 --- 256,210,46,0.180 325,325,0,0.000 17.449 14.051 chr19 56125208 56125208 C T exonic ZNF865 nonsynonymous SNV ZNF865:NM_001195605:exon1:c.C224T:p.P75L 62 16 0.205 96 0 0.000 1.03789041322893842e-06 0.125 --- 80,61,19,0.237 97,97,0,0.000 7.127 4.657 chr20 48472104 48472104 C T exonic SLC9A8 synonymous SNV SLC9A8:NM_001260491:exon8:c.C747T:p.S249S,SLC9A8:NM_015266:exon8:c.C699T:p.S233S Score=522;Name=lod=176 144 35 0.196 148 0 0.000 2.41173116658895208e-10 0.314 --- 157,127,30,0.191 116,116,0,0.000 7.505 14.841 chr21 19716333 19716333 G A exonic TMPRSS15 stopgain TMPRSS15:NM_002772:exon11:c.C1216T:p.R406X Score=295;Name=lod=21 1 0.764511 N 0.885057 NA 0.696826 NA 0.999978 D 1.0 A 1.67 69 24 0.258 146 0 0.000 1.85018973231243084e-11 0.417 --- 76,58,18,0.237 120,120,0,0.000 8.007 5.164 chr21 43176766 43176766 G C exonic RIPK4 nonsynonymous SNV RIPK4:NM_020639:exon2:c.C393G:p.F131L Score=560;Name=lod=251 0 0.999329 C 0.99 D 0.999 D 0.999996 D 0.99772 D 4.81 191 47 0.197 285 0 0.000 5.49240676316595564e-18 0.511 --- 192,152,40,0.208 235,235,0,0.000 14.966 12.572 chr22 31655150 31655150 T G exonic LIMK2 nonsynonymous SNV LIMK2:NM_001031801:exon3:c.T233G:p.M78R,LIMK2:NM_016733:exon3:c.T233G:p.M78R,LIMK2:NM_005569:exon4:c.T296G:p.M99R Score=611;Name=lod=404 0.31 0.998059 C 0.61 T 0.785 P 1.0 D 0.804436 D 5.34 40 5 0.111 80 0 0.000 0.0052093649343781549 1.000 --- 50,43,7,0.140 64,64,0,0.000 2.615 3.434 chrX 47433589 47433589 G T exonic SYN1 synonymous SNV SYN1:NM_006950:exon12:c.C1794A:p.A598A,SYN1:NM_133499:exon12:c.C1794A:p.A598A Score=591;Name=lod=336 315 83 0.209 504 3 0.006 2.89974840419247791e-28 0.482 0.333 343,272,71,0.207 423,421,2,0.005 23.712 4.152 chrX 100274284 100274284 C T exonic TRMT2B nonsynonymous SNV TRMT2B:NM_001167972:exon11:c.G1277A:p.R426H,TRMT2B:NM_001167970:exon12:c.G1277A:p.R426H,TRMT2B:NM_001167971:exon12:c.G1142A:p.R381H,TRMT2B:NM_024917:exon12:c.G1277A:p.R426H 0 0.113232 N 1.0 D 1.0 D 0.998634 N 0.999996 D -1.44 107 21 0.164 178 0 0.000 4.00192124537316452e-09 0.524 --- 106,89,17,0.160 142,142,0,0.000 6.620 10.788