VARIANT RANKER RESULTS

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Chr Start End Ref Alt Func_refGene Gene_refGene GeneDetail_refGene ExonicFunc_refGene Func_ensGene Gene_ensGene GeneDetail_ensGene ExonicFunc_ensGene phastConsElements46way gwasCatalog cytoband tfbsConsSites wgEncodeRegTfbsClustered wgEncodeRegDnaseClustered evofold snp138 1000g2014sep_all 1000g2014sep_eur 1000g2014sep_eas 1000g2014sep_amr 1000g2014sep_afr 1000g2014sep_sas ExAC popfreq_max SIFT_score SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_pred LRT_score LRT_pred MutationTaster_score MutationTaster_pred MutationAssessor_score MutationAssessor_pred FATHMM_score FATHMM_pred RadialSVM_score RadialSVM_pred LR_score LR_pred CADD_raw CADD_phred GERP_RS phyloP46way_placental phyloP100way_vertebrate SiPhy_29way_logOdds cadd caddgt10 avsift esp6500_ea esp6500_aa cosmic67 cg69 clinvar_20140929 rank_score
3111795803111795803GTexonicTMPRSS7NAnonsynonymous SNVexonicENSG00000176040NAnonsynonymous SNVScore=525;Name=lod=181NA3q13.2Score=844;Name=V$FOXJ2_02NANANANANANANANANANANANA0D1.0D0.999D0.000D1.000D2.235M-2.48D0.750D0.819D5.143326.112.9068.81017.6515.1429915.1429910NANANANANA22.3333334
10123256215123256215TGexonicFGFR2NAnonsynonymous SNVexonicENSG00000066468NAnonsynonymous SNVScore=355;Name=lod=37NA10q26.13Score=857;Name=V$OCT1_02NANANArs121918506NANANANANANANANA0D1.0D0.998D0.000D1.000A3.77H-3.85D1.102D0.949D4.45323.75.281.9947.91015.2584.4526754.4526750.02NANANANACLINSIG=pathogenic;CLNDBN=Pfeiffer_syndrome;CLNREVSTAT=single;CLNACC=RCV000014219.24;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1455:C1863356:101600:ORPHA71022.3333334
147547265375472653AGexonicEIF2B2NAnonsynonymous SNVexonicENSG00000119718NAnonsynonymous SNVScore=626;Name=lod=466NA14q24.3Score=827;Name=V$FOXO3_01NANANANANANANANANANA0.000008236NA0D1.0D0.999D0.000D1.000D3.08M-3.96D1.064D0.940D3.7619.094.361.0652.54312.1313.7601113.7601110NANANANANA22.3333252
1205744020205744020GAexonicRAB7L1NAnonsynonymous SNVexonicENSG00000117280NAnonsynonymous SNVScore=472;Name=lod=111NA1q32.1NAName=ZBTB7A_(SC-34508)NANANANANANANANANA0.0000663NA0.03D0.999D0.96D0.000D1.000D4.085H-1.71D0.898D0.825D5.579355.712.6925.39917.6135.57935.57930NANANANANA22.3332671
12121416797121416797GAexonicHNF1ANAnonsynonymous SNVexonicENSG00000135100NAnonsynonymous SNVScore=456;Name=lod=95NA12q24.31Score=950;Name=V$GATA1_01NANANANANANANANANANANANA0.03D0.999D0.994D0.000D1.000D1.7L-4.98D1.099D0.947D4.84227.64.341.9546.43515.8364.842334.842330.01NANANANANA21.3333334
1924157752415775CAexonicTMPRSS9NAnonsynonymous SNVexonicENSG00000178297NAnonsynonymous SNVScore=343;Name=lod=33NA19p13.3NAName=Pol2(phosphoS2),CCNT2Name=3NANANANANANANANA0.00004201NA0D0.993D0.936D0.000D1.000D3.42M0.12T0.164D0.457T3.38117.43.81.9765.66514.4153.380523.380520NANANANANA21.3332914
13110855918110855918CGexonicCOL4A1NAnonsynonymous SNVexonicENSG00000187498NAnonsynonymous SNVScore=410;Name=lod=62NA13q34NAName=ZNF263NANArs1501827140.0001996810.001NANANANA0.000049420.00130.04D1.0D1.0D0.000D1.000D3.515H-4.63D1.032D0.985D2.26913.544.792.3765.19617.8162.2690082.2690080.090.0002330NANANA21.332051
117755359577553595GCexonicAAMDCNAnonsynonymous SNVexonicENSG00000087884NAnonsynonymous SNVScore=633;Name=lod=500NA11q14.1NAName=c-Jun,c-FosName=47NArs1383819670.0001996810.001NANANANA0.00020.00130.04D0.999D0.912D0.000D1.000D2.005M0.7T0.109D0.558D4.27622.34.672.9416.47714.8554.2763834.2763830.040.0004660.000227NANANA21.3316674
74733159447331594GAexonicTNS3NAnonsynonymous SNVexonicENSG00000136205NAnonsynonymous SNVScore=243;Name=lod=13NA7p12.3Score=728;Name=V$PAX4_04Name=Pol2Name=124NArs412806960.001797120.006NA0.0043NANA0.00460.010.02D1.0D0.964D0.020N1.000D1.795L-3.05D0.782D0.844D3.8819.725.862.7756.82817.6803.8804123.8804120.010.0084020.00161NANANA21.3143314
1272808507280850CTexonicRBP5NAnonsynonymous SNVexonicENSG00000139194NAnonsynonymous SNVScore=391;Name=lod=52NA12p13.31NAName=GABP,TAF1,Pol2Name=7NANANANANANANANANANA0.01D0.999D0.981D0.000D1.000D2.29M1.49T-0.663T0.190T2.96215.873.552.2703.66416.4222.9619732.9619730.01NANANANANA20.3333334
204457920644579206CTexonicZNF335NAnonsynonymous SNVexonicENSG00000198026NAnonsynonymous SNVScore=644;Name=lod=551NA20q13.12NAName=Pol2Name=8NANANANANANANANA0.000008252NA0.01D1.0D0.998D0.000D1.000D2.475M2.31T-0.902T0.137T4.95328.84.822.6817.23917.4384.9528534.9528530NANANANANA20.3333251
63525909135259091GTexonicZNF76NAnonsynonymous SNVexonicENSG00000065029NAnonsynonymous SNVScore=637;Name=lod=517NA6p21.31Score=878;Name=V$AREB6_01NAName=5NANANANANANANANA0.0000286NA0D1.0D0.992D0.001D1.000D2.51M1.9T-0.866T0.151T5.209335.112.8169.60118.0695.2085445.2085440NANANANANA20.3333048
2204053267204053267GCexonicNBEAL1NAnonsynonymous SNVexonicENSG00000144426NAnonsynonymous SNVScore=592;Name=lod=338NA2q33.2Score=932;Name=V$LMO2COM_01NANANANANANANANANANA0.000058NA0.16T0.997D0.95D0.000D1.000D2.08M-1.44T0.198D0.649D5.15325.852.7739.75119.7615.1501835.1501830.04NANANANANA20.3332754
63825606938256069GAexonicBTBD9NAnonsynonymous SNVexonicENSG00000183826NAnonsynonymous SNVScore=505;Name=lod=150NA6p21.2NANANANArs375379024NANANANANANA0.00010.00010D1.0D1.0D0.000D1.000D2.68M-4.91D1.105D0.960D3.74519.015.311.6369.32315.6603.7448853.74488500.0001180NANANA20.3331154
73306169433061694TGexonicNT5C3ANAnonsynonymous SNVexonicENSG00000122643NAnonsynonymous SNVScore=575;Name=lod=289NA7p14.3Score=798;Name=V$COMP1_01NANANArs1444527820.0005990420.003NANANANA0.0010.00190.16T0.999D0.989D0.000D1.000D2.14M-1.9D0.474D0.725D4.19721.85.42.0584.73115.4184.1969834.1969830.090.0018620.000683NANANA20.3274714
13267492732674927TCexonicDCDC2BNAnonsynonymous SNVexonicENSG00000222046NAnonsynonymous SNVScore=489;Name=lod=130NA1p35.1NAName=Pol2NANArs1448048500.001397760.005NA0.0029NANA0.00530.010D1.0D1.0D..1.000D3.045M-4.22D0.919D0.936D4.77126.85.162.0787.39914.9584.7708334.77083300.0080950.001212NANANA20.3149384
194042127040421270CTexonicFCGBPNAnonsynonymous SNVexonicENSG00000090920NAnonsynonymous SNVScore=449;Name=lod=89NA19q13.2NANANANANANANANANANANA0.000009676NA0D1.0D1.0D0.000D1.000D2.91M-0.15T0.129D0.496T5.266334.942.4497.74717.2845.2659485.265948NANANANANANA19.3333237
93573340635733406TCexonicCREB3NAnonsynonymous SNVexonicENSG00000107175NAnonsynonymous SNVNANA9p13.3NAName=PU.1,CTCF,CTCF_(C-20),Pol2,Sin3Ak-20Name=130NArs1389815260NANANANANA0.00040.00020D1.0D0.998D0.001N0.950D2.295M-1.86D0.443D0.700D3.21216.763.620.7683.6888.6843.2124643.21246400.0002330NANANA19.3327004
13794723537947235ATexonicZC3H12ANAnonsynonymous SNVexonicENSG00000163874NAnonsynonymous SNVScore=534;Name=lod=198NA1p34.3NAName=Egr-1Name=29NArs2013883170.0001996810.001NANANANA0.000074150.00010.03D1.0D0.994D0.000D1.000D1.935M0.89T-0.630T0.240T4.95728.95.422.0545.26715.4664.9572464.95724600.0001160NANANA19.3321433
11117979606117979606GCexonicTMPRSS4NAnonsynonymous SNVexonicENSG00000137648NAnonsynonymous SNVScore=391;Name=lod=52NA11q23.3NANANANArs454410970.002595850.006NA0.0086NA0.0010.00420.010D1.0D0.999D0.000D1.000D2.97M0.26T0.898D0.961D4.03620.74.932.5645.37715.1724.0363914.03639100.0051210.000909NA0.051NA19.3180124
134558961645589616CGexonicKIAA1704NAnonsynonymous SNVexonicENSG00000133114NAnonsynonymous SNVScore=599;Name=lod=361NA13q14.12NAName=c-Fos,GATA-2Name=27NArs1513097350.001996810.006NANANA0.00410.0040.00770.05D0.999D0.984D0.000D1.000D2.42M..-0.205T0.374T4.54824.65.512.7467.19218.7824.5483554.5483550.010.0076740.001589NANANA19.3156594
63328150433281504CAexonicTAPBPNAnonsynonymous SNVexonicENSG00000231925NAnonsynonymous SNVScore=321;Name=lod=27NA6p21.32NAName=EBF,BAF155,EBF1_(C-8),CEBPB,Pol2,TBPName=111NArs455837370.003394570.0089NA0.00290.00080.00510.00510.00760D1.0D0.996D0.000D0.996D2.28M1.14T-0.631T0.222T1.79511.964.152.3001.96112.1271.7953451.79534500.0075720.001365NANANA19.3117614
48236928482369284TGexonicRASGEF1BNAnonsynonymous SNVexonicENSG00000138670NAnonsynonymous SNVScore=558;Name=lod=248NA4q21.21NAName=FOSL1_(SC-183)Name=7NANANANANANANANA0.00006589NA0.06T0.972D0.844P0.000D1.000D2.085M1.58T-0.886T0.156T4.64425.55.312.2435.82015.1004.6436584.6436580.01NANANANANA18.8332675
3154886383154886383AGexonicMMENAnonsynonymous SNVexonicENSG00000196549NAnonsynonymous SNVScore=496;Name=lod=138NA3q25.2Score=862;Name=V$OCT1_07NANANArs1817458190.0003993610.001NA0.0014NANA0.000033010.00280.12T0.976D0.739P0.000D1.000D1L-1.64D0.011D0.512D3.86519.645.251.9887.08215.1823.8654463.8654460.07NANANANANA18.8323004
111804715418047154CTexonicTPH1NAnonsynonymous SNVexonicENSG00000129167NAnonsynonymous SNVScore=659;Name=lod=635NA11p15.1NANANANArs1458551090.000399361NANANANA0.0020.00070.00070.02D0.808P0.298B0.000D1.000D3.28M-6.41D1.111D0.981D4.90428.35.712.6927.77319.8344.9040464.9040460.030.0006990NANANA18.8319344
181915383519153835CTexonicESCO1NAnonsynonymous SNVexonicENSG00000141446NAnonsynonymous SNVScore=586;Name=lod=322NA18q11.2Score=824;Name=V$FOXO3_01Name=MafK_(ab50322)NANArs1485369420.001198080.003NA0.00290.0008NA0.00120.010.03D0.996D0.837P0.000D0.998D1.935M1.44T-0.398T0.296T4.078215.742.7155.03818.1164.0781694.078169NA0.0016280.000227NANANA18.8275054
1622876492287649ACexonicDNASE1L2NAnonsynonymous SNVexonicENSG00000167968NAnonsynonymous SNVScore=403;Name=lod=58NA16p13.3NAName=Pol2Name=10NArs626212820.002595850.005NA0.0115NANA0.00260.010.14T0.984D0.831P0.000D0.528N2.56M-1.28T0.199D0.502D2.5414.454.371.8334.6509.9042.5399142.5399140.020.0029080.000761NANANA18.8228254
213397551533975515CTexonicC21orf59NAnonsynonymous SNVexonicENSG00000159079,ENSG00000265590NAnonsynonymous SNVScore=554;Name=lod=239NA21q22.11Score=959;Name=V$MZF1_01NANANArs617357810.003793930.0099NA0.0014NA0.00820.00450.0110.02D0.999D0.907P0.000D0.999D2.77M..0.014D0.434T4.31722.65.382.6772.54819.5014.3166714.3166710.010.0072090.001362NA0.065NA18.8117244
93771138237711382GCexonicFRMPD1NAnonsynonymous SNVexonicENSG00000070601NAnonsynonymous SNVScore=472;Name=lod=111NA9p13.2NANANANANANANANANANANANANA0D1.0D0.984D0.000D1.000D2.53M0.63T-0.384T0.311T4.13521.35.312.4865.33114.4824.1351374.1351370NANANANANA18.3333334
114589197745891977TGexonicCRY2NAnonsynonymous SNVexonicENSG00000121671NAnonsynonymous SNVScore=538;Name=lod=204NA11p11.2Score=764;Name=V$HOX13_01NANANANANANANANANANANANA0D0.923P0.85P0.000D0.997D3.075M..0.057D0.461T3.78319.2-2.88-0.421-1.30915.3003.782543.782540NANANANANA18.3333334
162345643123456431GCexonicCOG7NAnonsynonymous SNVexonicENSG00000168434NAnonsynonymous SNVScore=533;Name=lod=195NA16p12.2NANANANANANANANANANANANANA0.04D0.999D0.964D0.000D1.000D2.22M0.01T-0.175T0.430T4.86327.85.552.6016.75318.4984.8633314.8633310NANANANANA18.3333334
5140209597140209597GTexonicPCDHA6NAnonsynonymous SNVexonicENSG00000081842NAnonsynonymous SNVScore=259;Name=lod=15NA5q31.3NANANANANANANANANANANA0.00002487NA0D1.0D0.99D0.002U1.000D3.355M0.69T0.010D0.385T1.80211.983.982.2165.61916.6521.8018391.8018390NANANANANA18.3333085
182149477721494777CAexonicLAMA3NAnonsynonymous SNVexonicENSG00000053747NAnonsynonymous SNVScore=361;Name=lod=39NA18q11.2NANANANArs2015470610.000399361NANA0.0029NANA0.000049560.00280.01D1.0D1.0D..1.000D2.52M-0.81T0.325D0.608D3.3917.444.872.5134.88918.2013.390013.390010NANANANANA18.3332838
122102818121028181TAexonicSLCO1B3NAnonsynonymous SNVexonicENSG00000111700,ENSG00000257046NAnonsynonymous SNVScore=355;Name=lod=37NA12p12.2NANANANANANANANANANANA0.0001NA0D1.0D0.998D0.000D1.000D3.42M0.87T-0.245T0.323T2.49214.293.921.6536.00011.1262.4923482.4923480NANANANANA18.3332334
173962037639620376CTexonicKRT32NAnonsynonymous SNVexonicENSG00000108759NAnonsynonymous SNVScore=399;Name=lod=56NA17q21.2NANANANArs1441112670.00179712NANANA0.0068NA0.0010.00890.01D1.0D0.997D0.005N0.812D1.8L-2.68D0.706D0.728D3.8519.565.042.4923.64911.2703.8499173.8499170.0300.008852NANANA18.3323334
1211836799211836799AGexonicNEK2NAnonsynonymous SNVexonicENSG00000117650NAnonsynonymous SNVScore=374;Name=lod=44NA1q32.3NANANANArs2020991460.0001996810.001NANANANA0.000087190.00130.29T1.0D0.977D0.001D1.000D1.43L-2.4D0.438D0.742D3.98920.45.462.1957.71415.8343.9888333.9888330.090.0003490NANANA18.3318972
57602928576029285CAexonicF2RNAnonsynonymous SNVexonicENSG00000181104NAnonsynonymous SNVNANA5q13.3Score=719;Name=V$SEF1_CNANANArs22277990.001198080.003NA0.00140.0015NA0.00030.0110.04D1.0D0.972D0.342N0.872D1.995M-1.06T0.314D0.605D3.12116.434.792.6415.03918.3783.1210713.12107100.0002330.000227NA0.007NA18.3298004
161620892816208928GAexonicABCC1NAnonsynonymous SNVexonicENSG00000103222NAnonsynonymous SNVScore=497;Name=lod=139NA16p13.11NANANANArs749859300.0003993610.001NANANA0.0010.00150.00170.35T1.0D0.997D0.000D1.000D0.105N-2.67D0.355D0.686D3.40617.55.182.4177.99217.6863.405673.405670.120.0012990ID=COSM702670;OCCURENCE=1(lung)NANA18.3295344
7103969537103969537GTexonicLHFPL3NAnonsynonymous SNVexonicENSG00000187416NAnonsynonymous SNVScore=831;Name=lod=3182NA7q22.2NANAName=3NArs1901676770.0005990420.002NA0.0014NANA0.00090.00280.46T0.991D0.962D0.020N1.000D2.62M-0.69T0.125D0.629D4.524.25.062.3399.49018.4554.4999614.4999610.210.0009490NANANA18.3294844
154485682744856827GAexonicSPG11NAnonsynonymous SNVexonicENSG00000104133NAnonsynonymous SNVScore=569;Name=lod=274NA15q21.1Score=768;Name=V$MEF2_01NANANArs1393341670.001797120.004NA0.0072NANA0.00130.0110.07T0.999D0.967D0.028N1.000D2.125M-1.12T0.215D0.560D3.74919.045.261.6111.32715.1473.7492093.7492090.050.002210.000682NA0.007NA18.3258234
171035472710354727TGexonicMYH4NAnonsynonymous SNVexonicENSG00000264424NAnonsynonymous SNVScore=401;Name=lod=57NA17p13.1NANANANArs346105030.002396170.002NA0.0029NA0.00820.00320.00330.01D0.849P0.649P0.001U0.979D2.865M-1.65D0.444D0.646D4.17221.65.622.2632.04311.2454.172484.17248NA0.0032560.000681NANANA18.3248774
125801866858018668TGexonicSLC26A10NAnonsynonymous SNVexonicENSG00000135502NAnonsynonymous SNVScore=340;Name=lod=32NA12q13.3NANANANArs1119241040.003594250.003NA0.00580.00530.00410.00540.010.03D0.997D0.952D..1.000D1.735L-2.4D0.394D0.697D2.24613.473.652.0294.4227.2612.2463572.2463570.020.006860.004085NANANA18.3180734
168998609189986091GAexonicMC1RNAnonsynonymous SNVexonicENSG00000198211,ENSG00000258839NAnonsynonymous SNVScore=538;Name=lod=204NA16q24.3NANANANArs115474640.002795530.0089NA0.00580.0008NA0.0050.01..1.0D1.0D0.001U1.000D4.11H-4.27D0.907D0.957D5.507354.812.2346.45316.8525.5074125.50741200.0074420.000682NANANA18.3119914
2179643775179643775CTexonicTTNNAnonsynonymous SNVexonicENSG00000155657NAnonsynonymous SNVScore=638;Name=lod=524NA2q31.2Score=855;Name=V$ZID_01NANANArs360218560.003793930.0159NA0.0043NANA0.00990.020D1.0D1.0D..1.000D2.38M-0.24T-0.120T0.356T3.31217.135.722.7117.78119.8953.3116453.3116450.030.0073260.000681NANACLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000040288.1|RCV000126011.1;CLNDSDB=.|.;CLNDSDBID=.|.18.3002074
147541607375416073TCexonicPGFNAnonsynonymous SNVexonicENSG00000119630NAnonsynonymous SNVScore=483;Name=lod=123NA14q24.3NANANANANANANANANANANA0.00001789NA0D0.999D0.888P0.000D0.976D1.965M..-0.440T0.292T3.61618.44.161.7534.21010.1893.6159253.6159250NANANANANA17.8333155
9109692959109692959GCexonicZNF462NAnonsynonymous SNVexonicENSG00000148143NAnonsynonymous SNVScore=419;Name=lod=67NA9q31.2Score=758;Name=V$HEN1_02NAName=7NANA0.0001996810.001NANANANA0.00002474NA0.1T0.991D0.766P0.000D1.000D0.55N3.9T-1.035T0.024T3.26216.955.092.3592.74513.4743.2621113.2621110.01NANANANANA17.8323087
53931133639311336ATexonicC9NAnonsynonymous SNVexonicENSG00000113600NAnonsynonymous SNVScore=533;Name=lod=195NA5p13.1Score=741;Name=V$MEF2_04NANANArs1416007250.000399361NANA0.0014NA0.0010.00080.00280.48T0.957D0.67P0.000D0.981D1.75L-2.07D-0.125T0.536D4.20121.84.312.0821.6469.8794.2014174.2014170.040.0020930.000681NANANA17.8304404
111682459916824599CTexonicPLEKHA7NAnonsynonymous SNVexonicENSG00000166689NAnonsynonymous SNVScore=595;Name=lod=349NA11p15.1Score=795;Name=V$ER_Q6NANANArs345564580.00619010.0119NA0.02020.00080.00410.00680.030.04D0.995D0.867P0.000D1.000D2.215M1.41T-0.980T0.075T5.112325.842.7687.27219.7385.1120125.1120120.180.0078020.001591NANANA17.8068314
72785653627856536AGexonicTAX1BP1NAnonsynonymous SNVexonicENSG00000106052NAnonsynonymous SNVScore=573;Name=lod=283NA7p15.2NANANANANANANANANANANANANA0.08T0.999D0.985D0.000D1.000D2.085M2.55T-0.649T0.246T4.05620.85.672.1787.14115.9154.0556654.0556650NANANANANA17.3333334
27374697573746975AGexonicALMS1NAnonsynonymous SNVexonicENSG00000116127NAnonsynonymous SNVScore=459;Name=lod=98NA2p13.1NANANANANANANANANANANA0.000008286NA0.01D0.999D0.996D0.000D1.000D1.525L2.69T-1.141T0.075T4.15421.55.622.2774.86812.5134.1538144.1538140NANANANANA17.3333251
117380927873809278GCexonicC2CD3NAnonsynonymous SNVexonicENSG00000168014NAnonsynonymous SNVScore=652;Name=lod=593NA11q13.4NANANANANANANANANANANA0.000008256NA0.13T0.998D0.996D0.000D1.000D2.26M0.23T-0.331T0.408T4.85227.75.622.7945.57019.6254.8524334.8524330NANANANANA17.3333251
3100605051100605051CAexonicABI3BPNAnonsynonymous SNVexonicENSG00000154175NAnonsynonymous SNVScore=502;Name=lod=146NA3q12.2NANANANArs199740093NANANANANANA0.00001666NA0.01D1.0D1.0D0.000D1.000D1.905M1.14T-0.713T0.230T4.71326.25.712.6956.75319.8534.7133324.7133320NANANANANA17.3333167
144540073745400737GAexonicKLHL28NAnonsynonymous SNVexonicENSG00000179454NAnonsynonymous SNVScore=733;Name=lod=1274NA14q21.2Score=834;Name=V$PAX3_01NANANANANANANANANANA0.00001687NA0.18T1.0D0.999D0.000D1.000D0.33N-1.33T-0.016T0.489T2.33713.774.722.3215.16417.6312.337462.337460.19NANANANANA17.3333165
173345736433457364CTexonicFNDC8NAnonsynonymous SNVexonicENSG00000073598NAnonsynonymous SNVScore=426;Name=lod=72NA17q12Score=694;Name=V$PPARG_02Name=Pol2NANANANANANANANANA0.00002472NA0D0.993D0.353B0.111N1.000D0.345N1.38T-1.087T0.053T2.49914.323.921.3992.16110.5652.4988182.498818NANANANANANA17.3333087
191386978613869786GAexonicCCDC130NAnonsynonymous SNVexonicENSG00000104957NAnonsynonymous SNVScore=529;Name=lod=188NA19p13.2NANANANANANANANANANANA0.0000254NA0.12T1.0D0.996D0.000D1.000D2.295M1.46T-0.822T0.194T5.02929.75.062.6458.59115.9545.0286675.0286670NANAID=COSM991728;OCCURENCE=1(endometrium)NANA17.333308
12616167726161677CTexonicAUNIPNAnonsynonymous SNVexonicENSG00000127423NAnonsynonymous SNVScore=494;Name=lod=136NA1p36.11NANANANANANANANANANANA0.00004123NA0D1.0D1.0D0.000D0.997D1.1L-0.43T-0.311T0.372T4.15821.55.392.8263.94314.5884.1582974.158297NANANANANANA17.3332922
5172341813172341813GAexonicERGIC1NAnonsynonymous SNVexonicENSG00000113719NAnonsynonymous SNVScore=567;Name=lod=269NA5q35.1NANANANArs369010301NANANANANANA0.0000082860.00010.02D1.0D0.999D0.000D1.000D2.375M..-0.042T0.465T5.204335.372.5059.35618.7495.2044175.2044170.010.0001160NANANA17.3332091
1161681057161681057CTexonicFCRLANAnonsynonymous SNVexonicENSG00000132185NAnonsynonymous SNVScore=295;Name=lod=21NA1q23.3Score=798;Name=V$PAX5_02NANANArs1475923820.000199681NANA0.0014NANA0.000090950.00020D1.0D0.949D0.541N1.000D3.42M2.6T-0.952T0.087T3.69418.774.071.3121.3769.2713.6940623.69406200.0002330NANANA17.3330094
6128303989128303989TAexonicPTPRKNAnonsynonymous SNVexonicENSG00000152894NAnonsynonymous SNVScore=583;Name=lod=312NA6q22.33NANANANArs1443865220.000599042NANANANA0.00310.00040.00030D0.999D0.984D0.000D1.000D1.935M1.54T-0.906T0.137T4.50224.25.982.2898.04016.4564.5020964.50209600.0003490NANANA17.3325844
47943245379432453GAexonicFRAS1NAnonsynonymous SNVexonicENSG00000138759NAnonsynonymous SNVScore=627;Name=lod=469NA4q21.21NANANANArs617293660.001397760.006NANA0.0008NA0.00570.0110.04D1.0D0.999D0.000D1.000D2.175M2.46T-1.046T0.097T5.455355.72.6989.65719.8315.4546385.45463800.0098130.00119NA0.007NA17.3118204
161629586316295863TCexonicABCC6NAnonsynonymous SNVexonicENSG00000091262NAnonsynonymous SNVScore=537;Name=lod=203NA16p13.11NAName=PU.1NANArs726537620.002795530.0099NA0.0029NA0.0020.00610.010D1.0D1.0D0.000U1.000D2.68M-2.8D0.533D0.760D2.83315.441.80.5100.5499.2382.8329672.83296700.0091860.001821NANANA17.3081474
4154279631154279631AGexonicMND1NAnonsynonymous SNVexonicENSG00000121211NAnonsynonymous SNVScore=603;Name=lod=377NA4q31.3NANANANANANANANANANANANANA0.06T0.973D0.848P0.000D1.000D2.34M..-0.224T0.395T2.99315.985.72.1657.04715.9592.9928632.9928630.03NANANANANA16.8333334
119253108892531088TAexonicFAT3NAnonsynonymous SNVexonicENSG00000165323NAnonsynonymous SNVScore=435;Name=lod=78NA11q14.3Score=836;Name=V$ER_Q6NANANANANANANANANANANANA0.01D0.962D0.604P..1.000D1.54L0.64T-0.787T0.177T3.83419.475.812.2247.97516.1673.833983.833980.01NANANANANA16.8333334
162483484724834847CAexonicTNRC6ANAnonsynonymous SNVexonicENSG00000090905NAnonsynonymous SNVScore=695;Name=lod=890NA16p12.1Score=745;Name=V$MYOGNF1_01NANANANANANANANANANANANA0.17T0.976D0.761P0.000D1.000D0.415N2.76T-0.681T0.204T1.806125.642.6383.60119.7101.8060071.8060070.47NANANANANA16.8333334
2209010521209010521GAexonicCRYGBNAnonsynonymous SNVexonicENSG00000182187NAnonsynonymous SNVScore=464;Name=lod=103NA2q34Score=801;Name=V$TCF11MAFG_01NANANArs2015027490.000199681NA0.001NANANA0.000042220.00170.04D0.777P0.343B0.000D1.000D2.71M-1.05T-0.125T0.427T2.27713.572.741.3141.51610.1032.2766972.2766970.05NANAID=COSM573104;OCCURENCE=1(lung)NANA16.8332912
35493387454933874CTexonicCACNA2D3NAnonsynonymous SNVexonicENSG00000157445NAnonsynonymous SNVScore=537;Name=lod=203NA3p14.3NANANANANANANANANANANA0.00009301NA0.03D0.998D0.644P0.000D1.000D1.245L-0.53T-0.497T0.291T4.38223.24.632.6243.58910.5414.3815074.3815070.02NANANANANA16.8332404
1202126900202126900CTexonicPTPN7NAnonsynonymous SNVexonicENSG00000143851NAnonsynonymous SNVScore=516;Name=lod=167NA1q32.1Score=761;Name=V$P53_01NAName=3NArs1497837640.0003993610.002NANANANA0.00040.00130.11T0.983D0.713P0.000D1.000D0.945L2.76T-0.603T0.237T2.39913.985.182.4001.86218.6772.3990482.3990480.080.0003490.000227NANANA16.8305844
2179597590179597590TCexonicTTNNAnonsynonymous SNVexonicENSG00000155657NAnonsynonymous SNVScore=463;Name=lod=102NA2q31.2Score=777;Name=V$HEN1_01NANANArs1906362720.0001996810.001NANANANA0.00080.00130D0.98D0.819P..1.000D0.3N-0.26T-0.428T0.279T2.05212.826.172.3716.03616.8222.0519982.051998NA0.0009640.000254NANACLINSIG=unknown;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039885.1;CLNDSDB=.;CLNDSDBID=.16.8305694
45782966957829669GAexonicNOA1NAnonsynonymous SNVexonicENSG00000084092NAnonsynonymous SNVScore=439;Name=lod=81NA4q12NANANANArs617473750.003793930.004NA0.0043NA0.01230.00310.0110.01D0.997D0.861P0.000D1.000D2.585M1.1T-0.540T0.211T3.87519.695.412.6815.12419.1593.8753613.87536100.0023260.001135NA0.007NA16.8239074
171769740417697404CTexonicRAI1NAnonsynonymous SNVexonicENSG00000108557NAnonsynonymous SNVScore=422;Name=lod=69NA17p11.2NANANANArs1132082900.002995210.0109NA0.0043NA0.0010.00360.0110.04D0.976D0.696P0.005N1.000D1.935M1.44T-0.975T0.106T3.0116.045.552.6213.14119.4943.0102113.0102110.010.0046510.001589NA0.007CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082255.3;CLNDSDB=.;CLNDSDBID=.16.8141824
2170029657170029657CTexonicLRP2NAnonsynonymous SNVexonicENSG00000081479NAnonsynonymous SNVScore=429;Name=lod=74NA2q31.1Score=830;Name=V$CHOP_01NANANArs343551350.003793930.006NA0.0115NA0.00510.00550.010.23T0.607P0.145B0.000N1.000D3.27M-3.93D0.063D0.724D1.27910.18-0.879-0.1671.2623.4731.2794581.2794580.040.0077910.001589NANACLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000117500.1;CLNDSDB=.;CLNDSDBID=.16.8140424
984656668465666CGexonicPTPRDNAnonsynonymous SNVexonicENSG00000153707NAnonsynonymous SNVScore=616;Name=lod=425NA9p24.1NANANANANANANANANANANANANA..0.981D0.932D0.000D1.000D1.78L0.91T-0.619T0.306T4.14421.45.52.7467.44519.7574.1441764.1441760.25NANANANANA16.3333334
1992967029296702TCexonicOR7D2NAnonsynonymous SNVexonicENSG00000188000NAnonsynonymous SNVNANA19p13.2NANANANANANANANANANANANANA0D0.999D0.967D0.007U0.992D4.13H7.41T-1.048T0.006T2.85115.52.211.2966.6339.5172.851052.851050NANANANANA16.3333334
63525848135258481GTexonicZNF76NAnonsynonymous SNVexonicENSG00000065029NAnonsynonymous SNVScore=589;Name=lod=329NA6p21.31Score=960;Name=V$CEBP_01NANANANANANANANANANA0.000008238NA0.4T0.956P0.622P0.000D0.962D1.01L1.28T-1.145T0.056T3.21316.765.362.7975.94413.5753.2126113.2126110.18NANANANANA16.3333252
5140209598140209598ATexonicPCDHA6NAnonsynonymous SNVexonicENSG00000081842NAnonsynonymous SNVScore=259;Name=lod=15NA5q31.3NANANANANANANANANANANA0.00002487NA0D0.998D0.96D0.002U1.000D2.035M0.74T-0.681T0.236T1.74811.82.80.6928.1879.4741.7477031.7477030NANANANANA16.3333085
143986879439868794CTexonicFBXO33NAnonsynonymous SNVexonicENSG00000165355NAnonsynonymous SNVScore=654;Name=lod=609NA14q21.1NANANANANANANANANANANA0.00003489NA..0.999D0.972D0.000D1.000D0.345N0.89T-0.935T0.153T2.38413.935.852.7674.38320.1542.3842052.3842050NANANANANA16.3332985
6155606327155606327TCexonicTFB1MNAnonsynonymous SNVexonicENSG00000029639NAnonsynonymous SNVScore=336;Name=lod=31NA6q25.3Score=752;Name=V$STAT3_01NANANANANANANANANANA0.00009887NA0.74T0.372B0.216B0.001D0.999D2.045M1.58T-1.100T0.042T1.66711.535.92.2542.60912.1741.6666881.6666880.94NANANANANA16.3332345
182110442521104425AGexonicC18orf8NAnonsynonymous SNVexonicENSG00000141452NAnonsynonymous SNVScore=525;Name=lod=182NA18q11.2NANANANArs147982431NANANANANANA0.00020.0010.22T0.994D0.978D0.000D1.000D2.14M..-0.304T0.408T4.53824.55.42.0328.85715.4124.5383774.53837700.0010470NANANA16.3320864
35730360357303603CGexonicAPPL1NAnonsynonymous SNVexonicENSG00000157500NAnonsynonymous SNVScore=689;Name=lod=844NA3p14.3NANANANArs1384858170.000199681NANA0.0014NANA0.00060.00280.02D0.999D0.99D0.000D1.000D0.975L2.74T-1.150T0.076T2.89815.665.652.8177.43620.0782.8978852.8978850.010.0019770NANANA16.3307564
134653811846538118GTexonicZC3H13NAnonsynonymous SNVexonicENSG00000123200NAnonsynonymous SNVScore=635;Name=lod=507NA13q14.13NANANANArs1434615740.0003993610.002NANANANA0.00070.00260D1.0D0.999D0.000D1.000D1.7L2.3T-0.557T0.286T3.718.85.732.7135.28419.8983.700063.7000600.0004650NANANA16.3301684
2101643904101643904CGexonicTBC1D8NAnonsynonymous SNVexonicENSG00000204634NAnonsynonymous SNVScore=295;Name=lod=21NA2q11.2Score=759;Name=V$STAT3_01NANANArs2017200970.0005990420.002NANANA0.0010.00070.00260.81T1.0D0.998D0.000D0.945D1.78L0.82T-0.787T0.238T3.89119.785.182.5543.81017.2383.8910883.8910880.010.0004840NANANA16.3301494
47036118270361182TCexonicUGT2B4NAnonsynonymous SNVexonicENSG00000156096NAnonsynonymous SNVScore=272;Name=lod=17NA4q13.2NANANANArs1816037900.000998403NANA0.00580.0008NA0.00160.010.05D1.0D0.999D0.003U0.999D2.305M-0.06T-0.445T0.293T1.711.642.41.1013.2648.3601.6999371.6999370.030.0022340.00048NANANA16.3294994
135304919853049198GCexonicCKAP2NAnonsynonymous SNVexonicENSG00000136108NAnonsynonymous SNVScore=340;Name=lod=32NA13q14.3Score=947;Name=V$LYF1_01NANANArs346247480.0001996810.001NANANANA0.0020.0020.01D1.0D0.996D0.000D1.000D2.485M1.69T-0.804T0.159T3.04716.173.860.6070.7489.7383.0470533.04705300.0019770NANANA16.3283564
99448638194486381GAexonicROR2NAnonsynonymous SNVexonicENSG00000169071NAnonsynonymous SNVScore=563;Name=lod=260NA9q22.31Score=824;Name=V$CEBP_CNANANArs1412357200.0003993610.001NANA0.0008NA0.00210.00340.33T1.0D0.996D0.001D1.000D0.805L-1.13T-0.210T0.474T2.7715.224.652.4154.34717.7512.7701862.7701860.190.0033720.000908ID=COSM48755;OCCURENCE=1(lung),1(large_intestine)NANA16.3268614
9134308126134308126GAexonicPRRC2BNAnonsynonymous SNVexonicENSG00000130723NAnonsynonymous SNVScore=720;Name=lod=1122NA9q34.13NANANANArs413026750.001397760.003NA0.0043NA0.0010.00380.0040.02D0.997D0.992D0.002U1.000D2.7M1.08T-0.418T0.323T5.537356.032.8619.47619.5455.5370885.53708800.0029590.001207NANANA16.3235744
5140362125140362125CGexonicPCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2NAnonsynonymous SNVexonicENSG00000081842,ENSG00000204961,ENSG00000204962,ENSG00000204963,ENSG00000204965,ENSG00000204967,ENSG00000204969,ENSG00000204970,ENSG00000239389,ENSG00000243232,ENSG00000248383,ENSG00000249158,ENSG00000250120,ENSG00000251664,ENSG00000255408NAnonsynonymous SNVScore=608;Name=lod=396NA5q31.3NAName=POU2F2,Oct-2,PU.1,Pbx3NANArs792474750.001597440.005NANANA0.00310.00550.0110.08T1.0D0.998D0.001D1.000D1.845L0.78T-0.605T0.247T4.54624.65.92.8024.95017.1794.5455764.54557600.0043020.000454NA0.007NA16.3185314
2242742842242742842AGexonicGAL3ST2NAnonsynonymous SNVexonicENSG00000154252NAnonsynonymous SNVScore=340;Name=lod=32NA2q37.3NAName=Egr-1NANArs1393446220.001198080.003NA0.0029NA0.0010.00510.0080D1.0D0.988D0.011N0.877N3.46M1.7T-0.689T0.166T3.28317.023.831.7375.33913.0893.283023.2830200.0080250.001589NA0.007NA16.3172084
205187150251871502GAexonicTSHZ2NAnonsynonymous SNVexonicENSG00000182463NAnonsynonymous SNVScore=488;Name=lod=128NA20q13.2NANANANArs454797920.002995210.008NA0.00720.00080.0010.00660.010.11T0.994D0.97D0.000D1.000D2.31M1.6T-0.800T0.148T3.90819.874.981.4827.60417.0833.9075983.9075980.020.0075580.002043NANANA16.3111754
10101591737101591737TCexonicABCC2NAnonsynonymous SNVexonicENSG00000023839NAnonsynonymous SNVNANA10q24.2NANANANArs454411990.002196490.0099NA0.0014NANA0.00530.010.03D0.316B0.232B0.510N1.000D1.985M-3.61D0.452D0.762D2.09312.965.642.1492.19515.8332.0934622.0934620.040.0087210.001362NA0.014NA16.3094124
108236333782363337CTexonicSH2D4BNAnonsynonymous SNVexonicENSG00000178217NAnonsynonymous SNVScore=361;Name=lod=39NA10q23.1NANANANANANANANANANANA0NA0.05D0.581P0.123B0.000N1.000D2.24M1.97T-1.087T0.059T3.4417.645.121.5673.18112.9343.439683.439680.08NANANANANA15.8333334
13675524736755247GAexonicTHRAP3NAnonsynonymous SNVexonicENSG00000054118NAnonsynonymous SNVScore=512;Name=lod=160NA1p34.3Score=739;Name=V$SEF1_CNANANANANANANANANANA0.0000083NA0.08T0.486P0.356B0.000D1.000D1.525L2.55T-1.178T0.052T3.87619.696.062.8827.82719.6093.8755633.8755630.01NANANANANA15.8333251
14105413326105413326GAexonicAHNAK2NAnonsynonymous SNVexonicENSG00000185567NAnonsynonymous SNVScore=431;Name=lod=75NA14q32.33NANANANArs369899617NANANANANANA0.000041420.00030.01D0.998D0.827P..1.000D3.64H4.6T-0.969T0.038T2.27913.583.641.5814.33314.9762.2787532.278753000.000254ID=COSM953891;OCCURENCE=1(endometrium)NANA15.833292
1050110815011081ATexonicAKR1C1NAnonsynonymous SNVexonicENSG00000187134NAnonsynonymous SNVScore=487;Name=lod=127NA10p15.1Score=959;Name=V$MYOD_Q6Name=Pol2NANArs11474NANANANANANA0.00006589NA0.05D0.111B0.448P0.006N0.999D1.405L1.79T-0.913T0.178T1.7911.952.11.2094.4138.1031.790431.790430.04NANANANANA15.8332675
125662903356629033CTexonicSLC39A5NAnonsynonymous SNVexonicENSG00000139540NAnonsynonymous SNVScore=615;Name=lod=421NA12q13.3NANANANArs147133811NANANANANANA0.000088860.00070D0.998D0.88P0.008N0.994D2.18M0.74T-0.148T0.388T3.38717.434.442.4203.80816.7033.386513.38651000.000681NANANA15.8332445
1232942679232942679TCexonicMAP10NAnonsynonymous SNVexonicENSG00000212916NAnonsynonymous SNVScore=265;Name=lod=16NA1q42.2NANANANArs202096626NANANANANANA0.00050.00060D0.998D0.9P0.008U1.000D2.175M..-0.370T0.324T3.05216.194.872.2914.89811.5563.0517353.05173500.0006130NANANA15.8322204
13655360936553609GAexonicTEKT2NAnonsynonymous SNVexonicENSG00000092850NAnonsynonymous SNVScore=539;Name=lod=207NA1p34.3NAName=MaxName=5NArs141119805NANANANANANA0.00070.00070.39T0.997D0.728P0.003N0.987D1.305L4.31T-0.823T0.017T4.41123.44.952.2662.98417.7934.4113274.4113270.590.0006980NANANA15.8319354
149135700791357007CTexonicRPS6KA5NAnonsynonymous SNVexonicENSG00000100784NAnonsynonymous SNVScore=563;Name=lod=258NA14q32.11NANANANArs559112490.0009984030.002NA0.0043NANA0.00210.00280.04D0.994D0.831P0.000D1.000D1.005L-0.08T-0.481T0.300T529.45.452.5357.78019.2844.9996144.9996140.080.0019770.000681NANANA15.8272564
115817071258170712CTexonicOR5B3NAnonsynonymous SNVexonicENSG00000172769NAnonsynonymous SNVScore=468;Name=lod=106NA11q12.1NANANANArs1389761010.0009984030.005NANANANA0.00290.010D0.98D0.782P0.016N0.998D3.945H2.99T-0.705T0.084T3.17916.644.192.3384.65115.5833.178723.1787200.0051220.001817NANANA15.8203114
107305560773055607GAexonicUNC5BNAnonsynonymous SNVexonicENSG00000107731NAnonsynonymous SNVScore=613;Name=lod=412NA10q22.1Score=885;Name=V$ZID_01NANANArs617492310.003194890.006NA0.0086NA0.00410.00440.010.04D0.934P0.208B0.000D0.989D0.55N0.85T-1.066T0.048T2.06912.873.762.4371.6409.7072.0685092.0685090.050.0086050.001589NA0.007NA15.8143284
1216108128216108128TCexonicUSH2ANAnonsynonymous SNVexonicENSG00000042781NAnonsynonymous SNVScore=374;Name=lod=44NA1q41NANANANArs1110333940.002995210.0119NA0.0043NANA0.00380.010.3T0.919P0.375B0.000D1.000D2.125M2.71T-0.994T0.031T3.12616.455.812.2103.79312.0713.1255863.1255860.090.0045370.00227NANACLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041903.1;CLNDSDB=.;CLNDSDBID=.15.8130964
195569346955693469CTexonicPTPRHNAnonsynonymous SNVexonicENSG00000080031NAnonsynonymous SNVScore=500;Name=lod=143NA19q13.42Score=959;Name=V$MYOD_Q6NANANArs455414340.005191690.0119NA0.0130.00080.00410.00750.020.99T0.975D0.655P0.004N0.521D-0.45N-1.59D-0.594T0.154T3.68518.723.821.1961.7938.9623.6848273.6848270.210.0091860.003404NA0.007NA15.8047474
12768639927686399GTexonicMAP3K6NAnonsynonymous SNVexonicENSG00000142733NAnonsynonymous SNVScore=620;Name=lod=442NA1p36.11NANANANANANANANANANANANANA0.03D0.906P0.542P..0.991D0.565N-0.08T-0.769T0.177T3.81319.365.032.6105.20112.0373.8129963.812996NANANANANANA15.3333334
63881066338810663ACexonicDNAH8NAnonsynonymous SNVexonicENSG00000124721NAnonsynonymous SNVScore=593;Name=lod=343NA6p21.2NANANANANANANANANANANANANA0.04D0.1B0.279B0.001D0.995N3.18M0.05T-0.656T0.242T1.99812.645.122.0476.1769.7211.9983871.9983870.02NANANANANA15.3333334
173856073138560731CTexonicTOP2ANAnonsynonymous SNVexonicENSG00000131747NAnonsynonymous SNVScore=459;Name=lod=98NA17q21.2NANANANANANANANANANANA0.00004198NA0.01D0.273B0.23B0.000D1.000D1.745L1.93T-1.046T0.090T4.06420.95.52.5927.76019.3834.0643834.0643830.03NANANANANA15.3332914
2160706630160706630GAexonicLY75,LY75-CD302NAnonsynonymous SNVexonicENSG00000054219,ENSG00000248672NAnonsynonymous SNVScore=431;Name=lod=75NA2q24.2Score=949;Name=V$CETS1P54_01NANANArs1452628650.000199681NA0.001NANANA0.000024910.00170.1T1.0D0.999D0.005U1.000D1.825L2.21T-1.107T0.107T3.63718.55.542.6094.30516.3733.6369313.6369310.010.0001160.000227ID=COSM1008195;OCCURENCE=1(endometrium)NANA15.3331925
187765904577659045GCexonicKCNG2NAnonsynonymous SNVexonicENSG00000178342NAnonsynonymous SNVScore=679;Name=lod=765NA18q23NANANANArs200870939NANANANANANA0.00020.00010.34T0.793P0.459P0.120U1.000D2.045M-4.42D0.434D0.834D1.84912.141.310.6381.8584.3221.8490261.8490260.090.0001160NANANA15.3330174
34914776049147760CTexonicUSP19NAnonsynonymous SNVexonicENSG00000172046NAnonsynonymous SNVScore=602;Name=lod=374NA3p21.31NANANANArs1857550990NANANANANA0.00030.010.17T0.999D0.997D0.000D1.000D1.24L1.4T-0.967T0.136T4.86927.95.672.6667.47619.7634.868954.868950.030.0002360NANANA15.3327974
33804977438049774CAexonicPLCD1NAnonsynonymous SNVexonicENSG00000187091NAnonsynonymous SNVScore=340;Name=lod=32NA3p22.2NANANANArs784269510.0003993610.001NA0.0014NANA0.00090.00280.51T0.998D0.955D0.000D1.000D1.335L-0.36T-0.642T0.328T3.97520.34.052.4771.71712.7053.9745263.9745260.010.0013950.000454NANANA15.3300384
1248702334870233AGexonicGALNT8NAnonsynonymous SNVexonicENSG00000130035NAnonsynonymous SNVScore=505;Name=lod=150NA12p13.32NANANANArs1438072680.0007987220.0020.001NANA0.0010.00090.00170D0.943P0.543P0.044N0.882D3.235M0.2T-0.194T0.296T3.8219.43.271.3898.5319.6723.8198133.81981300.0017440.001135NANANA15.3286894
73857453938574539GAexonicAMPHNAnonsynonymous SNVexonicENSG00000078053NAnonsynonymous SNVScore=608;Name=lod=394NA7p14.1NANANANArs1472344010.0003993610.001NANA0.0008NA0.00120.00280D1.0D0.997D0.000D1.000D2.135M-0.02T-0.224T0.386T3.65418.58-0.747-0.0371.23815.3763.6537293.65372900.0027910.000227ID=COSM1450618;OCCURENCE=1(large_intestine)NANA15.3283424
7143701389143701389ATexonicOR6B1NAnonsynonymous SNVexonicENSG00000221813NAnonsynonymous SNVScore=295;Name=lod=21NA7q35NANANANArs1824429400.002595850.004NA0.00860.00150.0010.00180.010D1.0D1.0D0.003U0.599D3.865H4.44T-0.976T0.030T3.58718.27-3.13-0.425-1.27113.9113.5874953.58749500.0021070.001631NA0.007NA15.3254264
6144184227144184227ACexonicLTV1NAnonsynonymous SNVexonicENSG00000135521NAnonsynonymous SNVScore=432;Name=lod=76NA6q24.2NANANANArs412850310.001797120.0089NANANANA0.00420.010.18T0.899P0.826P0.000D1.000D2.85M..-0.452T0.310T3.65318.574.450.9655.84611.3363.6533313.6533310.010.0056980.000454NANANA15.3145354
162370224623702246GCexonicERN2NAnonsynonymous SNVexonicENSG00000134398NAnonsynonymous SNVScore=401;Name=lod=57NA16p12.2NANANANArs561291670.003793930.007NA0.0072NA0.00720.00610.010D0.955P0.871P0.000D1.000D3.165M1.46T-0.652T0.163T2.28113.583.250.3066.64812.9832.2810592.2810590.010.0086050.001138NANANA15.3116284
12952702829527028GAexonicMECRNAnonsynonymous SNVexonicENSG00000116353NAnonsynonymous SNVScore=531;Name=lod=191NA1p35.3Score=808;Name=V$TCF11MAFG_01NANANArs1489788000.001797120.008NANA0.0008NA0.0050.010.08T0.965D0.335B0.022N0.951D2.22M3.44T-1.063T0.016T3.22516.814.752.6964.28210.2633.2245123.2245120.190.0087210.000681ID=COSM908048;OCCURENCE=1(endometrium)NANA15.3116124
91587458515874585TGexonicCCDC171NAnonsynonymous SNVexonicENSG00000164989NAnonsynonymous SNVScore=812;Name=lod=2661NA9p22.3NANANANArs1498148940.006789140.0109NA0.0058NA0.01940.00950.010.12T1.0D0.999D0.000D1.000D0.805L2.14T-0.907T0.142T3.60218.345.742.2055.17216.1053.6021893.60218900.0070930.001135ID=COSM1235977,COSM1235976;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)NANA15.3058404
16341206341206CGexonicAXIN1NAnonsynonymous SNVexonicENSG00000103126NAnonsynonymous SNVScore=567;Name=lod=270NA16p13.3NANANANANANANANANANANANANA0.39T0.501P0.086B0.000D1.000D1.39L0.19T-0.948T0.131T1.51911.033.571.8363.57414.0661.5191651.5191650.43NANANANANA14.8333334
201760031617600316TCexonicRRBP1NAnonsynonymous SNVexonicENSG00000125844NAnonsynonymous SNVNANA20p12.1NANANANANANANANANANANANANA0.11T0.989D0.889P0.000D0.999N2.19M2.04T-0.946T0.152T2.49614.314.751.0482.77210.792.4957972.4957970.01NANANANANA14.8333334
11119243493119243493CTexonicUSP2NAnonsynonymous SNVexonicENSG00000036672NAnonsynonymous SNVScore=309;Name=lod=24NA11q23.3NANANANANANANANANANANA0.00002701NA0.07T0.998D0.743P0.049N1.000D0.345N2.14T-1.102T0.057T2.72115.065.372.5011.67916.2652.7208042.7208040NANANANANA14.8333064
4110618781110618781CTexonicCASP6NAnonsynonymous SNVexonicENSG00000138794NAnonsynonymous SNVScore=358;Name=lod=38NA4q25NANANANArs377499378NANANANANANA0.000033950.00010.01D0.72P0.234B0.000D1.000D1.8L1.89T-1.063T0.068T2.58714.614.31.5611.3258.4452.5873692.5873690.060.0001160NANANA14.8331835
146461062964610629GAexonicSYNE2NAnonsynonymous SNVexonicENSG00000054654NAnonsynonymous SNVScore=561;Name=lod=253NA14q23.2NANANANArs1422063850.000399361NA0.001NA0.0008NA0.00020.0020.03D0.763P0.143B0.013N1.000D2.395M1.31T-0.906T0.120T2.79215.34.441.2403.9267.4842.7919822.79198200.0003490NANANA14.8327844
1235324212235324212GAexonicRBM34NAnonsynonymous SNVexonicENSG00000188739NAnonsynonymous SNVNANA1q42.3NAName=Pol2,Sin3Ak-20,CHD2_(N-1250)Name=115NArs1843494130.001797120.001NA0.00860.0015NA0.00040.010.2T0.969D0.691P0.001N0.687N2.215M2.35T-1.091T0.057T3.95920.33.171.2872.4298.9073.9590163.9590160.010.0003640.000785NANANA14.8315694
133926282639262826CGexonicFREM2NAnonsynonymous SNVexonicENSG00000150893NAnonsynonymous SNVScore=496;Name=lod=138NA13q13.3NANANANArs1900637250.0003993610.002NANANANA0.00010.00130.25T0.988D0.751P0.000D1.000D0.93L1.71T-1.141T0.087T2.63314.775.62.6482.59719.6232.6334042.6334040.13NANANANANA14.8312334
72338333923383339TCexonicIGF2BP3NAnonsynonymous SNVexonicENSG00000136231NAnonsynonymous SNVScore=630;Name=lod=484NA7p15.3NANANANArs1506977250.001397760.0030.001NANA0.00310.00160.0040.4T0.57P0.196B0.000D1.000D2.085M2.47T-1.107T0.051T3.43317.615.642.1456.15515.8623.4327793.4327790.20.0019770.000227NANANA14.8267564
77690390776903907CTexonicCCDC146NAnonsynonymous SNVexonicENSG00000135205NAnonsynonymous SNVNANA7q11.23Score=824;Name=V$BACH1_01NANANArs1481642330.004193290.0030.001NANA0.01740.00370.0040.03D0.99D0.727P0.001D0.997N1.39L1.04T-0.903T0.169T1.239.9895.712.6984.05719.4301.230341NA00.0025580.000681NANANA14.8240754
6161491684161491684GTexonicMAP3K4NAnonsynonymous SNVexonicENSG00000085511NAnonsynonymous SNVNANA6q26NANAName=2NArs340185420.0007987220.001NA0.00290.0008NA0.00290.00560.04D0.974D0.646P0.000D0.749N1.59L2.22T-1.105T0.030T1.1059.514.691.3633.2689.9761.105499NA0.010.0055810.000908NANANA14.8238524
97932385379323853CTexonicPRUNE2NAnonsynonymous SNVexonicENSG00000106772NAnonsynonymous SNVNANA9q21.2NANANANArs2008751800.0009984030.005NANANANA0.00380.00380D1.0D0.829P0.000D1.000D0.975L0.31T-0.885T0.201T2.62114.725.942.8264.16514.9542.6206392.62063900.0037690.000319NANANA14.8207644
193579049335790493CTexonicMAGNAnonsynonymous SNVexonicENSG00000105695NAnonsynonymous SNVScore=501;Name=lod=145NA19q13.12NANANANArs1445531630.002396170.005NA0.00140.00080.00510.00440.011T0.98D0.79P0.000D0.919D1.245L-1.0T-0.510T0.274T3.85919.64.572.3611.74214.8663.8585713.8585710.030.0043020.002497NANANA14.8196314
124949828449498284TGexonicLMBR1LNAnonsynonymous SNVexonicENSG00000139636NAnonsynonymous SNVScore=622;Name=lod=449NA12q13.12NANANANArs353437710.001597440.0050.0010.0029NANA0.00440.00481T0.91P0.909D0.000D1.000D0.8N2.07T-1.118T0.068T3.02616.16.072.3268.00515.6113.0259433.0259430.550.0047670.001589NANANA14.8191664
63528571935285719ACexonicDEF6NAnonsynonymous SNVexonicENSG00000023892NAnonsynonymous SNVScore=371;Name=lod=43NA6p21.31NAName=CTCF,HA-E2F1,c-MycName=127NArs617345790.004792330.0189NA0.0072NANA0.00880.020.06T0.985D0.67P0.001D1.000N0.64N2.64T-1.102T0.033T4.61925.32.830.8691.3498.7014.6189354.6189350.050.009070.001816NANANA14.7965634
64297709242977092TCexonicPPP2R5DNAsynonymous SNVexonicENSG00000112640NAsynonymous SNVScore=606;Name=lod=386NA6p21.1Score=909;Name=V$SOX9_B1Name=CTCF,CTCF_(C-20),ZNF263,CTCFL_(SC-98982),CTCF_(SC-5916),SMC3_(ab9263),Rad21Name=87NArs1149702160.001198080.005NA0.0014NANA0.00480.011........1.000D........0.7147.805-6.84-1.363-1.14318.2140.714379NANA0.0072090.002724NA0.014NA14.6496576
174907248649072486CTexonicSPAG9NAnonsynonymous SNVexonicENSG00000008294NAnonsynonymous SNVScore=325;Name=lod=28NA17q21.33NANANANANANANANANANANANANA0.03D0.449B0.265B0.001N1.000D1.75L1.88T-1.067T0.087T4.233225.592.6217.13519.5964.23284.23280.01NANANANANA14.3333334
4126373317126373317CTexonicFAT4NAnonsynonymous SNVexonicENSG00000196159NAnonsynonymous SNVScore=343;Name=lod=33NA4q28.1NANANANANANANANANANANA0.00001647NA0.01D0.219B0.034B0.003U1.000D1.845L0.53T-0.862T0.156T2.93815.794.921.4454.65114.7562.9378462.9378460NANAID=COSM232313,COSM232312;OCCURENCE=2(skin)NANA14.3333169
82226747322267473TGexonicSLC39A14NAnonsynonymous SNVexonicENSG00000104635NAnonsynonymous SNVScore=568;Name=lod=272NA8p21.3Score=836;Name=V$RREB1_01NANANANANANANANANANA0.00001648NA0.28T0.007B0.039B..1.000D..0.9T-1.077T0.073T2.57214.564.080.9953.2306.3332.5715122.5715120.3NANANANANA14.3333169
99526303995263039TCexonicECM2NAnonsynonymous SNVexonicENSG00000106823NAnonsynonymous SNVScore=568;Name=lod=272NA9q22.31NANANANANANANANANANANA0.00001655NA0.46T0.158B0.065B0.000D1.000D-0.93N0.72T-1.061T0.043T1.86812.23.962.0583.5399.8211.8676491.8676490.51NANANANANA14.3333168
72622482926224829CGexonicNFE2L3NAnonsynonymous SNVexonicENSG00000050344NAnonsynonymous SNVNANA7p15.2NAName=Pol2,Pol2-4H8,RXRAName=52NArs143155770NANANANANANA0.000049420.00130.02D0.083B0.024B0.095N1.000N2.165M1.39T-0.952T0.123T2.73915.125.132.5641.79618.9602.739452.739450.010.0002330NANANA14.333051
14105353232105353232AGexonicCEP170BNAnonsynonymous SNVexonicENSG00000099814NAnonsynonymous SNVScore=278;Name=lod=18NA14q32.33NANANANArs373327078NANANANANANA0.000043160.00020.02D0.985D0.952D0.000N1.000D1.655L0.4T-0.652T0.262T1.78111.922.150.5923.7847.8581.7811971.78119700.0002430NANANA14.3330472
1159410402159410402CTexonicOR10J1NAnonsynonymous SNVexonicENSG00000196184NAnonsynonymous SNVNANA1q23.2NANANANArs1444806270.000399361NANANA0.0015NA0.00030.00180D1.0D0.99D0.004N1.000N2.925M8.39T-1.040T0.001T3.11416.413.511.1893.62910.2273.1144263.114426000.001816NANANA14.3330334
174424878344248783GTexonicKANSL1NAnonsynonymous SNVexonicENSG00000120071NAnonsynonymous SNVScore=472;Name=lod=110NA17q21.31Score=767;Name=V$STAT3_01NANANArs1420969690.0007987220.001NA0.0043NANA0.00180.00240.5T0.103B0.058B0.000D1.000D0.345N2.72T-0.977T0.022T1.55611.166.042.8732.28613.6781.5562071.5562070.470.0024420.000227NANANA14.3280914
8110131553110131553GAexonicTRHRNAnonsynonymous SNVexonicENSG00000174417NAnonsynonymous SNVScore=426;Name=lod=72NA8q23.1Score=912;Name=V$TCF11_01NANANArs1470192350.0007987220.003NANA0.0008NA0.00210.0040.28T0.448B0.091B0.000N1.000D2.22M-0.23T-0.689T0.247T3.0216.074.931.4714.56914.2683.020093.020090.030.0018610.002497NANANA14.3263724
149673031396730313GAexonicBDKRB1NAstopgainexonicENSG00000100739NAstopgainNANA14q32.2Score=837;Name=V$GRE_CName=HA-E2F1,c-MycName=4NANANANANANANANANANA0.1T....0.784U1.000A........4.94928.83.490.616-0.1546.5914.9485664.9485660.57NANANANANA14
1145606274145606274CTsplicingPOLR3CNM_006468:exon6:c.678+1G>ANAsplicingENSG00000186141ENST00000334163:exon6:c.678+1G>A,ENST00000369294:exon6:c.678+1G>ANAScore=355;Name=lod=37NA1q21.1NAName=GATA-1Name=3NANANANANANANANA0.00005772NA........1.000D........3.7919.244.961.4854.25410.8153.790443.79044NANANANANANA13.9999423
195567789555677895ACexonicDNAAF3NAnonsynonymous SNVexonicENSG00000167646NAnonsynonymous SNVScore=336;Name=lod=31NA19q13.42NAName=Pol2,STAT3,NF-YB,E2F6_(H-50),NF-YANANANANANANANANANA0.000008294NA0.04D0.729P0.354B0.890N1.000D0.69N2.05T-1.092T0.040T1.4710.862.910.8640.4275.9761.4698471.4698470NANANANANA13.8333251
1621502542150254GAexonicPKD1NAnonsynonymous SNVexonicENSG00000008710NAnonsynonymous SNVScore=544;Name=lod=217NA16p13.3NANANANArs1479670210.000199681NANA0.0014NANA0.000094040.00280D0.891P0.283B0.002N0.998D1.265L-0.24T-0.685T0.188T2.13313.094.692.4242.19310.8312.1333642.1333640NANANANANA13.8332394
6109954427109954427CTexonicAK9NAnonsynonymous SNVexonicENSG00000155085NAnonsynonymous SNVScore=414;Name=lod=64NA6q21NANANANArs2000881890.000399361NANANANA0.0020.0001NA..0.536P0.246B0.000D1.000D1.15L-0.04T-1.005T0.099T2.27113.554.81.3892.10612.5152.2714272.2714270.02NANANANANA13.8332334
157094942470949424TCexonicUACANAnonsynonymous SNVexonicENSG00000137831NAnonsynonymous SNVScore=595;Name=lod=350NA15q23NANANANArs143220817NANANANANANA0.000082570.00020.04D0.783P0.205B0.043N1.000D1.61L1.58T-0.963T0.103T3.45717.715.52.2165.76515.9143.4567843.45678400.0001160.000227NANANA13.8331348
149364971393649713TCexonicMOAP1NAnonsynonymous SNVexonicENSG00000165943NAnonsynonymous SNVScore=329;Name=lod=29NA14q32.12Score=926;Name=V$AP1_CNAName=4NArs740752200.007587860.001NA0.00430.0257NA0.00260.030.2T0.784P0.391B..0.964N1.445L2.88T-1.065T0.011T1.71111.683.451.8162.5148.6721.7108111.7108110.150.0011630.015433NA0.022NA13.8285704
157829576578295765TCexonicTBC1D2BNAnonsynonymous SNVexonicENSG00000167202NAnonsynonymous SNVScore=461;Name=lod=100NA15q24.3NANANANArs1389883580.003594250.005NA0.00290.0083NA0.00180.010.11T0.642P0.412B0.000D1.000D1.005L2.0T-0.892T0.147T2.46214.195.291.9886.11614.4052.4624462.4624460.010.0015140.004326NANANA13.8250194
1031415423141542GAexonicPFKPNAnonsynonymous SNVexonicENSG00000067057NAnonsynonymous SNVScore=476;Name=lod=115NA10p15.2NAName=STAT3,CEBPBName=93NANANANANANANANANANA0.07T0.063B0.069B0.010N1.000D-0.255N-1.35T-0.879T0.222T3.06116.220.5190.0602.31110.3293.0611383.0611380.42NANANANANA13.3333334
125786347957863479CGexonicGLI1NAnonsynonymous SNVexonicENSG00000111087NAnonsynonymous SNVScore=461;Name=lod=100NA12q13.3Score=688;Name=V$BRACH_01NANANANANANANANANANANANA1T0.005B0.031B0.039N0.995N-0.235N2.79T-0.942T0.013T1.0489.2813.731.2961.4276.8671.048264NA0.23NANANANANA13.3333334
137590039475900394CTexonicTBC1D4NAnonsynonymous SNVexonicENSG00000136111NAnonsynonymous SNVScore=300;Name=lod=22NA13q22.2NANANANANANANANANANANANANA0.55T0.015B0.009B0.089N1.000D1.175L0.91T-1.077T0.079T2.43114.094.641.4462.83311.3452.4311352.4311350.4NANANANANA13.3333334
177707811577078115CAexonicENGASENAnonsynonymous SNVexonicENSG00000167280NAnonsynonymous SNVNANA17q25.3Score=851;Name=V$ARNT_01Name=Egr-1NANANANANANANANANANANA..0.068B0.038B0.046N0.999N1.155L..-1.057T0.046T-0.0853.584-7.57-1.356-3.2091.142-0.085074NA0.23NANANANANA13.3333334
63203674332036743CTexonicTNXBNAnonsynonymous SNVexonicENSG00000168477NAnonsynonymous SNVNANA6p21.33Score=793;Name=V$CDPCR3_01NANANANANANANANANANA0.000008655NA0.14T0.926P0.638P0.007N0.999N1.65L3.64T-0.979T0.010T2.55714.514.071.2261.7698.1062.5573042.5573040NANANANANA13.3333247
12129293353129293353AGexonicSLC15A4NAnonsynonymous SNVexonicENSG00000139370NAnonsynonymous SNVScore=498;Name=lod=141NA12q24.32Score=796;Name=V$PAX2_01NANANArs1896250270.000199681NANA0.0014NANA0.00001650.00280.31T0.001B0.004B0.000N1.000D1.35L3.85T-1.020T0.124T2.90715.694.320.9836.55511.8402.9069032.9069030.27NANANANANA13.3333169
1764831316483131TCexonicKIAA0753NAnonsynonymous SNVexonicENSG00000198920NAnonsynonymous SNVScore=313;Name=lod=25NA17p13.2NANANANANANANANANANANA0.00001657NA0.31T0.008B0.009B0.001N0.592D1.5L0.97T-0.983T0.082T3.35917.323.221.0082.6717.9313.358743.358740.15NANANANANA13.3333168
205187012051870120ATexonicTSHZ2NAnonsynonymous SNVexonicENSG00000182463NAnonsynonymous SNVNANA20q13.2NANANANANANANANANANANA0.00001662NA0.04D0.001B0.001B0.000D0.998N1.61L2.49T-1.088T0.026T0.3155.706-6.08-1.856-1.19411.7780.314831NA0.02NANANANANA13.3333168
171054775310547753GAexonicMYH3NAnonsynonymous SNVexonicENSG00000109063NAnonsynonymous SNVScore=521;Name=lod=174NA17p13.1NANANANANANANANANANANA0.00003295NA0.27T0.003B0.008B..0.646N0.91L-2.28D-0.326T0.453T1.49610.954.52.4963.32811.7581.4958211.495821NANANANANANA13.3333004
X28336432833643CAexonicARSDNAnonsynonymous SNVexonicENSG00000006756NAnonsynonymous SNVNANAXp22.33NANAName=4NArs115332247NANANANANANA0.0001NA0.06T0.005B0.02B0.914N1.000P1.39L-3.26D-0.434T0.591D0.7878.15-6.79-1.408-2.6912.4440.787191NA0.06NANAID=COSM1467377;OCCURENCE=1(large_intestine)NANA13.3332334
61779483717794837TCexonicKIF13ANAnonsynonymous SNVexonicENSG00000137177NAnonsynonymous SNVScore=456;Name=lod=95NA6p22.3NANANANArs201793412NANANANANANA0.00010.00020.13T0.14B0.247B0.000D1.000D1.895L1.21T-0.649T0.257T3.33617.235.552.2335.03015.9843.3361583.3361580.070.0002420NANANA13.3329914
1229079142907914GAexonicFKBP4NAnonsynonymous SNVexonicENSG00000004478NAnonsynonymous SNVScore=389;Name=lod=51NA12p13.33NANANANArs1912930850.0005990420.002NA0.0014NANA0.00009060.00280.32T0.307B0.065B0.000D1.000D0.68N0.56T-1.024T0.105T3.72618.924.872.2429.38316.5773.7257683.7257680.54NANANANANA13.3312428
146460465064604650AGexonicSYNE2NAnonsynonymous SNVexonicENSG00000054654NAnonsynonymous SNVScore=444;Name=lod=85NA14q23.2NAName=Rad21,SMC3_(ab9263),CTCF,CTCF_(C-20),CTCF_(SC-5916)Name=50NArs147640636NANANANANANA0.00070.00140.41T0.282B0.159B0.006N1.000D1.295L1.36T-1.101T0.068T2.21413.362.120.1172.6599.8382.2144932.2144930.120.0013950.000227NANANA13.3312384
72996622929966229TCexonicSCRN1NAnonsynonymous SNVexonicENSG00000136193NAnonsynonymous SNVScore=545;Name=lod=218NA7p14.3NANANANArs1512495490.0003993610.001NANA0.0008NA0.00120.002..0.103B0.031B0.000D1.000D1.63L3.18T-1.086T0.036T1.87212.225.682.1853.40414.7961.8724211.8724210.080.0013950.000908NANANA13.3297384
18215504215504GAexonicTHOC1NAnonsynonymous SNVexonicENSG00000079134NAnonsynonymous SNVScore=645;Name=lod=556NA18p11.32NANANANArs1386712460.0003993610.001NA0.0014NANA0.00140.00280.59T0.029B0.022B0.000D1.000D0.665N..-0.940T0.157T1.90312.325.442.5606.75719.2611.9025221.902522NA0.0019540.00027NANANA13.3289794
5110096992110096992AGexonicSLC25A46NAnonsynonymous SNVexonicENSG00000164209NAnonsynonymous SNVScore=502;Name=lod=146NA5q22.1NANANANArs1412138070.0003993610.001NANA0.0008NA0.0020.0030.38T0.008B0.009B0.000D1.000D1.32L-1.15T-0.343T0.471T1.52811.065.962.2845.90216.4451.5282771.5282770.670.0030240.001135NANANA13.3273094
1613081561308156GAexonicTPSD1NAnonsynonymous SNVexonicENSG00000095917NAnonsynonymous SNVNANA16p13.3NANANANArs1398552960.0009984030.005NANANANA0.00140.0040.55T0.607P0.505P0.000D1.000N1.41L-2.42D-0.420T0.562D1.42210.692.091.537-0.0188.8561.4223121.4223120.350.0020940.000456NANANA13.3248394
149225395292253952TGexonicTC2NNAnonsynonymous SNVexonicENSG00000165929NAnonsynonymous SNVScore=474;Name=lod=113NA14q32.12NANANANArs1441101310.0005990420.002NANA0.0008NA0.00230.00550.21T0.874P0.641P0.000D0.923N0.345N3.42T-1.099T0.026T2.58214.595.732.3086.60216.3122.5818562.5818560.20.0054650NANANA13.3235684
161077593210775932AGexonicTEKT5NAnonsynonymous SNVexonicENSG00000153060NAnonsynonymous SNVScore=300;Name=lod=22NA16p13.13NAName=HNF4A_(H-171),HNF4G_(SC-6558)NANArs1389883730.002196490.006NA0.0058NA0.0010.00250.0040.53T0.0B0.0B0.038N0.931D-1.28N4.43T-0.868T0.003T-0.581.3953.881.8891.1205.513-0.579606NA0.410.0033720.000683NANANA13.3214614
161078820010788200CGexonicTEKT5NAnonsynonymous SNVexonicENSG00000153060NAnonsynonymous SNVScore=429;Name=lod=74NA16p13.13NANANANArs1481857510.002595850.006NA0.00580.00150.0010.00270.0040.02D0.319B0.364B0.003N0.997D2.81M3.97T-1.173T0.028T1.90512.334.681.3680.2838.0291.9050421.9050420.010.0033720.001138NANANA13.3212614
1622969272296927GAexonicECI1NAnonsynonymous SNVexonicENSG00000167969NAnonsynonymous SNVScore=304;Name=lod=23NA16p13.3NANANANArs1127294040.006589460.0020.001NANA0.03070.00830.00420.1T0.962D0.344B0.000N1.000D2.01M-0.37T-0.712T0.228T1.1719.7633.220.7616.0339.0821.17056NA0.010.0041860.000227NANANA13.3188474
2136620315136620315TCexonicMCM6NAnonsynonymous SNVexonicENSG00000076003NAnonsynonymous SNVScore=698;Name=lod=919NA2q21.3NANANANArs1414488860.002396170.0080.0010.0014NA0.0020.0040.010.24T0.399B0.34B0.000D1.000D1.32L2.8T-1.082T0.026T4.19821.85.271.9737.58915.2084.197514.197510.050.0045350.000908NANANA13.3167984
116531427765314277GCexonicLTBP3NAnonsynonymous SNVexonicENSG00000168056NAnonsynonymous SNVScore=439;Name=lod=81NA11q13.1Score=987;Name=V$SP1_Q6Name=Pbx3,IRF1,E2F6_(H-50),TAF1,USF-1,SP1Name=71NArs1487809910.008785940.01090.0020.01010.0182NA0.00740.0150.36T0.234B0.11B0.001N1.000N-0.39N1.95T-1.000T0.011T1.88812.274.081.1090.6989.2871.8875661.8875660.210.0070090.015539NANANA13.3080244
2179393691179393691GAexonicTTNNAnonsynonymous SNVexonicENSG00000155657NAnonsynonymous SNVScore=510;Name=lod=157NA2q31.2NANANANArs558425570.003793930.0159NA0.0043NANA0.00980.020D0.257B0.068B..1.000N0.695N0.25T-0.944T0.084T2.62514.744.742.6773.45213.2482.6246092.624609NA0.0068180.000793NANACLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000040981.1|RCV000126004.1;CLNDSDB=.|.;CLNDSDBID=.|.13.3008154
115794722357947223CAexonicOR9Q1NAnonsynonymous SNVexonicENSG00000186509NAnonsynonymous SNVScore=378;Name=lod=46NA11q12.1NANANANANANANANANANANANANA0.01D0.552P0.12B0.218N0.840N1.815L7.54T-0.971T0.001T2.14813.142.911.4360.2051.3712.1478022.1478020.04NANANANANA12.8333334
225089882750898827GAexonicSBF1NAnonsynonymous SNVexonicENSG00000100241NAnonsynonymous SNVScore=591;Name=lod=336NA22q13.33NANANANArs202156491NANANANANANA0.00070.00090D0.998D0.9P0.004N0.961D0.895L2.85T-1.134T0.041T3.26116.941.580.2512.91011.433.2612723.26127200.0009360NANANA12.8316974
1235324219235324219GAexonicRBM34NAnonsynonymous SNVexonicENSG00000188739NAnonsynonymous SNVNANA1q42.3NAName=Sin3Ak-20,CHD2_(N-1250),Pol2Name=115NArs1819261760.001797120.001NA0.00860.0015NA0.00040.010.38T0.64P0.146B0.001N0.988D2.255M2.08T-1.084T0.030T3.30217.10.8960.2731.0876.0163.3019353.3019350.020.0003640.000779NANANA12.8315694
224693203246932032TAexonicCELSR1NAnonsynonymous SNVexonicENSG00000075275NAnonsynonymous SNVScore=498;Name=lod=141NA22q13.31NANANANArs1420904960.0007987220.002NA0.0014NA0.0010.00110.00280.06T0.972D0.694P0.000U0.868N1.785L4.66T-1.100T0.013T3.01716.064.211.5534.77712.9563.0168953.0168950.120.0026740.000454NANANA12.8275594
43759178337591783GAexonicC4orf19NAnonsynonymous SNVexonicENSG00000154274NAnonsynonymous SNVScore=278;Name=lod=18NA4p14NANANANArs754698590.001198080.003NA0.0014NA0.0020.00140.0040.08T0.977D0.787P0.462N1.000N1.59L1.49T-0.973T0.129T4.19121.75.542.8843.78313.0804.1913734.1913730.010.0017440NANANA12.8271894
11124756982124756982GAexonicROBO4NAnonsynonymous SNVexonicENSG00000154133NAnonsynonymous SNVScore=358;Name=lod=38NA11q24.2NANANANArs1384810930.001996810.0060.0010.00290.0008NA0.0050.010.1T0.986D0.534P0.303N0.997N1.78L0.18T-0.922T0.206T2.48414.263.830.9551.1967.8002.4838172.4838170.040.0074440.002499NANANA12.8148894
214370842243708422GAexonicABCG1NAsynonymous SNVexonicENSG00000160179NAsynonymous SNVScore=596;Name=lod=353NA21q22.3Score=819;Name=V$PAX2_01NAName=33NArs1410611430.00139776NANA0.00140.0045NA0.00020.0041........1.000D....-0.818T0.217T1.66911.542.30.8833.0099.9731.6694971.669497NA00.000681NANANA12.6664666
34866945448669454GCexonicSLC26A6NAnonsynonymous SNVexonicENSG00000225697NAnonsynonymous SNVScore=534;Name=lod=197NA3p21.31NANANANANANANANANANANANANA0.1T0.36B0.119B..1.000D0.395N-2.71D-0.432T0.508D2.93715.79-1.36-0.230-0.2969.9442.9372822.9372820.08NANANANANA12.3333334
57973901079739010AGexonicZFYVE16NAnonsynonymous SNVexonicENSG00000039319NAnonsynonymous SNVScore=422;Name=lod=69NA5q14.1NANANANANANANANANANANANANA0.22T0.0B0.0B0.101N0.993N-1.01N1.23T-1.047T0.029T-0.9170.4033.541.3222.7116.840-0.917387NA0.45NANANANANA12.3333334
194834300048343000GAexonicCRXNAnonsynonymous SNVexonicENSG00000105392NAnonsynonymous SNVScore=450;Name=lod=90NA19q13.33NANANANANANANANANANANANANA0.16T0.026B0.017B0.050N1.000N0.69N-2.03D-0.769T0.328T2.76515.212.040.4153.9374.4462.7653732.7653730.13NANAID=COSM439884;OCCURENCE=1(breast)NANA12.3333334
193761949637619496GCexonicZNF420NAnonsynonymous SNVexonicENSG00000197050NAnonsynonymous SNVNANA19q13.12NAName=SETDB1,ZNF274,KAP1NANANANANANANANANA0.000008241NA..0.821P0.57P..1.000N1.275L3.19T-1.027T0.027T-0.6950.9872.010.9800.4479.288-0.695326NA0.24NANANANANA12.3333252
10131965213131965213AGexonicGLRX3NAnonsynonymous SNVexonicENSG00000108010NAnonsynonymous SNVScore=549;Name=lod=227NA10q26.3Score=827;Name=V$GR_Q6NANANANANANANANANANA0.000008284NA0.5T0.002B0.002B0.002N0.742N0.015N3.2T-0.975T0.011T-0.790.7042.650.2592.0138.717-0.789589NA0.74NANANANANA12.3333251
123249062732490627TCexonicBICD1NAnonsynonymous SNVexonicENSG00000151746NAnonsynonymous SNVScore=780;Name=lod=1975NA12p11.21NANANANArs200867915NANANANANANA0.00004119NA0.48T0.008B0.007B0.001N1.000D0N1.01T-1.071T0.052T-0.1713.1684.661.9682.69410.447-0.170539NA0.83NANANANANA12.3332922
157513103175131031TCexonicULK3NAnonsynonymous SNVexonicENSG00000140474NAnonsynonymous SNVScore=446;Name=lod=87NA15q24.1Score=920;Name=V$HOXA3_01NANANANANANANANANANA0.00005975NA0.39T0.017B0.007B..0.815D1.085L2.06T-1.034T0.033T2.00812.671.630.0222.3255.6072.0081932.0081930.23NANAID=COSM1478352;OCCURENCE=1(breast)NANA12.3332736
203358452133584521GAexonicMYH7BNAnonsynonymous SNVexonicENSG00000078814NAnonsynonymous SNVNANA20q11.22NANAName=3NANANANANANANANA0.0003NA0.01D0.425B0.237B0.438N1.000N0.69N-1.66D-0.690T0.310T1.25810.12.090.3750.1091.0851.2582671.2582670.02NANANANANA12.3330334
10105104826105104826CTexonicPCGF6NAnonsynonymous SNVexonicENSG00000156374NAnonsynonymous SNVScore=629;Name=lod=480NA10q24.33Score=842;Name=V$IRF7_01NANANArs1379108920.000199681NANANANA0.0010.00020.00060.47T0.002B0.001B0.001N1.000D0.59N1.38T-1.098T0.054T2.45814.183.840.7634.68411.8922.4576672.4576670.320.0005810NANANA12.3325524
10102738626102738626GAexonicSEMA4GNAnonsynonymous SNVexonicENSG00000095539NAnonsynonymous SNVScore=440;Name=lod=82NA10q24.31NANANANArs138710515NANANANANANA0.00030.00060.38T0.208B0.052B0.000N1.000D1.015L2.83T-1.021T0.021T2.33913.784.731.3804.52111.6362.3392962.3392960.130.0005810NANANA12.3324524
887498958749895GAexonicMFHAS1NAnonsynonymous SNVexonicENSG00000147324NAnonsynonymous SNVScore=452;Name=lod=92NA8p23.1NAName=Pol2Name=113NArs1405442520.0001996810.001NANANANA0.00030.00070.37T0.146B0.038B0.004N0.926N1.58L1.81T-1.046T0.050T0.5416.9313.450.5733.0189.0580.541412NA0.790.0006980NANANA12.3313354
12108686280108686280GAexonicCMKLR1NAnonsynonymous SNVexonicENSG00000174600NAnonsynonymous SNVNANA12q23.3NANANANArs1466503780.0001996810.001NANANANA0.00050.00130.01D0.947P0.567P0.007N0.998N1.91M0.95T-0.900T0.147T0.75582.290.1631.40914.5050.755197NA0.020.0005880NANANA12.3312454
1110882499110882499TGexonicRBM15NAnonsynonymous SNVexonicENSG00000162775NAnonsynonymous SNVScore=435;Name=lod=78NA1p13.3NAName=ELK4,Egr-1,Pol2,USF1_(SC-8983),E2F6_(H-50),Sin3Ak-20Name=72NArs2009332580.0005990420.002NA0.0014NANA0.00020.00280.59T0.039B0.013B0.001N0.969N-0.345N0.9T-0.959T0.014T0.9188.7352.790.9540.9086.7090.917509NA0.78NANANANANA12.3311334
125296215752962157GAexonicKRT74NAnonsynonymous SNVexonicENSG00000170484NAnonsynonymous SNVScore=371;Name=lod=43NA12q13.13NANANANANA0.0005990420.0020.001NANANA0.0003NA0.05D0.926P0.507P0.004N1.000N1.415L-0.97T-0.249T0.563D2.38513.931.30.1370.56010.2302.3851472.3851470.1NANAID=COSM124031;OCCURENCE=1(upper_aerodigestive_tract)NANA12.3310334
184746372747463727GAexonicMYO5BNAnonsynonymous SNVexonicENSG00000167306NAnonsynonymous SNVNANA18q21.1NANANANArs751076670.0091853NA0.0010.00290.0325NA0.00230.030.08T0.002B0.014B0.531N0.824D0.435N-3.62D-0.408T0.460T1.509114.391.2293.85912.8971.5090131.5090130.140.000120.021378NA0.022NA12.3309134
167283113272831132CAexonicZFHX3NAnonsynonymous SNVexonicENSG00000140836NAnonsynonymous SNVScore=343;Name=lod=33NA16q22.2NANANANArs1483349470.0003993610.002NANANANA0.00090.00260.71T0.002B0.002B0.000D0.798N0.345N-0.7T-0.966T0.172T0.7878.1496.032.8542.50315.2580.786921NANA0.0015120.000227NANANA12.3289214
123972405239724052AGexonicKIF21ANAnonsynonymous SNVexonicENSG00000139116NAnonsynonymous SNVScore=623;Name=lod=454NA12q12NANANANArs1502942890.001397760.004NA0.0043NANA0.00110.010.78T0.0B0.002B..1.000D0N-0.38T-1.059T0.067T1.48310.914.821.0894.64711.2371.4829081.4829080.360.0016280.000681NANANA12.3266054
109593101195931011AGexonicPLCE1NAnonsynonymous SNVexonicENSG00000138193NAnonsynonymous SNVScore=497;Name=lod=140NA10q23.33Score=949;Name=V$CDPCR3HD_01NANANArs617514940.0007987220.003NA0.0014NANA0.00160.00350.44T0.006B0.004B0.001D0.930N0.46N1.45T-1.047T0.038T0.5526.9865.712.1720.9055.7290.55195NA0.150.0034810.000249NANANA12.3252524
456202635620263GAexonicEVC2NAnonsynonymous SNVexonicENSG00000173040NAnonsynonymous SNVNANA4p16.2NANANANArs1409519740.001797120.006NA0.0029NA0.0010.0040.010.21T0.97D0.265B0.000D1.000N0.695N-1.04T-0.822T0.168T2.83315.444.372.4881.9439.8762.8329752.8329750.050.0039530.000227NANANA12.3193804
1750856375085637GAexonicZNF594NAnonsynonymous SNVexonicENSG00000180626NAnonsynonymous SNVNANA17p13.2NAName=SETDB1,KAP1NANArs1897704990.002396170.004NA0.0029NA0.00610.00480.010.05D1.0D0.996D..1.000N2.325M0.68T-0.924T0.180T1.26410.12-0.6650.0340.2965.4641.264381.264380.040.0065340.001159NANANA12.3179994
10119043458119043458TGexonicPDZD8NAnonsynonymous SNVexonicENSG00000165650NAnonsynonymous SNVNANA10q25.3Score=810;Name=V$PBX1_02NANANArs1409225720.0007987220.004NANANANA0.00520.00670.37T0.132B0.051B0.001N0.975N0.805L-2.03D-0.798T0.278T-0.232.8893.171.0112.4848.570-0.230091NA0.360.0067440.00227NANANA12.3173894
191576088315760883GAexonicCYP4F3NAnonsynonymous SNVexonicENSG00000186529NAnonsynonymous SNVScore=295;Name=lod=21NA19p13.12Score=933;Name=V$TCF11_01NANANArs283715360.002995210.0099NA0.0043NA0.0020.00630.010.07T0.05B0.19B0.004U0.971D0.395N-0.34T-0.899T0.131T1.85412.162.940.6674.2579.4541.8537451.8537450.070.0093020.001135NANANA12.3078314
6132203615132203615GAsplicingENPP1NM_006208:exon21:c.2230+1G>ANAsplicingENSG00000197594ENST00000360971:exon21:c.2230+1G>A,ENST00000513998:exon21:c.2204+1G>ANAScore=387;Name=lod=50NA6q23.2NANANANANANANANANANANA0.000008239NA........1.000D........4.25422.26.162.9376.33818.6334.2537614.253761NANANANANANA11.9999918
4165878621165878621GAexonicFAM218ANAstopgainexonicENSG00000250486NAstopgainNANA4q32.3NANANANANANANANANANANA0.00001662NA0D......1.000N........1.59411.29-2.48-1.270-0.5070.0781.5939661.5939660NANANANANA11.9999834
34008576040085760GAexonicMYRIPNAsynonymous SNVexonicENSG00000170011NAnonsynonymous SNVScore=489;Name=lod=129NA3p22.1Score=797;Name=V$COMP1_01Name=FOXA1_(C-20)NANArs562487900.002196490.006NA0.0029NA0.00310.00220.01..0.017B0.002B..1.000D..2.0T-1.012T0.018T2.74615.14-10.9-2.7630.00812.2472.7455832.7455830.020.0022090.001135NANANA11.989591
2167273315167273315GAexonicSCN7ANAnonsynonymous SNVexonicENSG00000136546NAnonsynonymous SNVNANA2q24.3NANANANANANANANANANANA0.00002591NA0D0.669P0.04B0.736N1.000N-0.625N-4.09D-0.293T0.632D0.4166.260.4420.1720.80516.3700.416089NA0NANANANANA11.8333075
17570273675702736CAexonicSLC44A5NAnonsynonymous SNVexonicENSG00000137968NAnonsynonymous SNVNANA1p31.1NANANANArs1432510340.0003993610.001NA0.0014NANA0.00040.00280D0.982D0.891P0.202N0.998D2.175M2.84T-1.038T0.045T1.64311.45-1.470.0100.6716.5671.6431211.6431210.020.0001160NANANA11.8318174
121497637514976375CTexonicC12orf60NAnonsynonymous SNVexonicENSG00000182993NAnonsynonymous SNVNANA12p12.3Score=1000;Name=V$AML1_01NANANArs1494592420.0001996810.001NANANANA0.00060.0010.01D0.893P0.432B0.061N1.000N1.1L2.24T-1.060T0.032T1.46910.862.371.1850.6734.7781.4687771.4687770.040.0010470.000681NANANA11.8306864
178054397280543972CTexonicFOXK2NAnonsynonymous SNVexonicENSG00000141568NAnonsynonymous SNVNANA17q25.3NANANANArs121506820.003793930.0159NA0.00140.0015NA0.00550.0110.05D0.83P0.221B0.005N1.000N0.69N-3.34D-0.295T0.481T2.13913.113.370.8242.4329.0692.1385682.1385680.060.0083940.001137NA0.007NA11.8035394
1227921376227921376CTexonicJMJD4NAsynonymous SNVexonicENSG00000081692NAsynonymous SNVNANA1q42.13NANANANANANANANANANANA0.00002534NA........1.000D....-0.853T0.140T-0.0453.784-8.45-1.873-3.5267.639-0.045005NANANANANANANA11.6666413
3124438188124438188CTexonicKALRNNAsynonymous SNVexonicENSG00000160145NAsynonymous SNVScore=573;Name=lod=285NA3q21.2NANANANArs564100730.001597440.0050.0010.0029NANA0.00280.0044........1.000D....-0.772T0.223T0.5256.8444.421.4451.9539.6250.524926NANA0.0044190.001816NANANA11.6544476
9140611555140611555AGexonicEHMT1NAnonsynonymous SNVexonicENSG00000181090NAnonsynonymous SNVNANA9q34.3NANANANANANANANANANANANANA0.39T0.005B0.003B0.137N1.000N1.39L1.69T-0.991T0.180T2.14613.134.622.2361.8087.6362.1456272.1456270.04NANANANANA11.3333334
34984190349841903GAexonicFAM212ANAnonsynonymous SNVexonicENSG00000185614NAnonsynonymous SNVScore=278;Name=lod=18NA3p21.31NAName=Max,ZNF263Name=30NANANANANANANANA0.000008259NA0.34T0.007B0.006B0.630N0.953N-0.115N..-1.005T0.039T0.4586.4891.950.1560.5285.0730.458382NA0.24NANANANANA11.3333251
14459514444595144GTexonicKLF17NAnonsynonymous SNVexonicENSG00000171872NAnonsynonymous SNVNANA1p34.1NANANANANANANANANANANA0.000008433NA0.09T0.16B0.027B0.233N1.000N0.55N3.2T-0.999T0.015T1.89112.283.661.5201.80010.2961.890871.890870.05NANANANANA11.333325
174843585148435851GAexonicXYLT2NAnonsynonymous SNVexonicENSG00000015532NAnonsynonymous SNVScore=587;Name=lod=324NA17q21.33NANANANArs369581548NANANANANANA0.00002489NA0.14T0.023B0.009B0.014N1.000D1.59L3.56T-1.002T0.014T3.33717.232.620.5711.6597.7863.3371023.3371020.03NANANANANA11.3333085
224680494346804943TCexonicCELSR1NAnonsynonymous SNVexonicENSG00000075275NAnonsynonymous SNVScore=235;Name=lod=12NA22q13.31NANANANArs201049711NANANANANANA0.00004212NA1T0.0B0.0B0.001N1.000D-2.12N-0.08T-0.939T0.044T-1.0330.2162.450.3551.78411.220-1.032644NA1NANANANANA11.3332913
1196963210196963210AGexonicCFHR5NAnonsynonymous SNVexonicENSG00000134389NAnonsynonymous SNVScore=251;Name=lod=14NA1q31.3NANANANArs2017872380.000199681NANA0.0014NANA0.000075690.0002..0.378B0.15B..1.000N0.805L1.64T-0.902T0.224T1.53411.083.981.4481.7819.2681.5338541.5338540.0100.000228NANANA11.3332577
4159091777159091777CGexonicFAM198BNAnonsynonymous SNVexonicENSG00000164125NAnonsynonymous SNVNANA4q32.1NAName=TAF1,CTCF,Rad21,c-Myc,CTCF_(SC-5916)Name=34NANA0.000199681NA0.001NANANA0.0001NA0.29T0.01B0.022B0.124N1.000N1.845L1.6T-1.009T0.056T0.5256.8442.890.4870.3520.5480.524885NA0.23NANANANANA11.3332334
10135342118135342118CTexonicCYP2E1NAnonsynonymous SNVexonicENSG00000130649NAnonsynonymous SNVNANA10q26.3Score=861;Name=V$NFKB_CNAName=7NANA0.000199681NANA0.0014NANA0.0002NA0.01D0.122B0.036B0.020N1.000N1.685L-0.41T-0.909T0.175T2.60514.67-0.662-0.1890.7693.7842.6045152.6045150NANANANANA11.3331334
125036699750366997TGexonicAQP6NAnonsynonymous SNVexonicENSG00000086159NAnonsynonymous SNVNANA12q13.12NANANANArs144813201NANANANANANA0.00010.00020D0.003B0.001B0.297N0.977N1.355L-2.16D-0.607T0.473T1.2219.954-4.12-0.913-1.0766.2731.221033NA00.0002330.000227NANANA11.3330004
11102398322102398322CGexonicMMP7NAnonsynonymous SNVexonicENSG00000137673NAnonsynonymous SNVScore=385;Name=lod=49NA11q22.2NANANANArs1419566710.00219649NANANA0.0083NA0.00040.00410.06T0.934P0.725P0.271N1.000N1.965M0.71T-0.966T0.167T2.32913.741.40.398-1.4765.5372.3287342.3287340.4300.001816NANANA11.3329334
143176513831765138TGexonicHEATR5ANAnonsynonymous SNVexonicENSG00000129493NAnonsynonymous SNVScore=631;Name=lod=490NA14q12NANAName=2NArs2001602160.000798722NANA0.0058NANA0.0004NA0.06T0.941P0.796P0.013N1.000D1.61L-0.16T-0.592T0.307T2.32113.720.688-0.1080.36710.2462.3208662.3208660.02NANANANANA11.3329334
191967576919675769CTexonicPBX4NAnonsynonymous SNVexonicENSG00000105717NAnonsynonymous SNVScore=343;Name=lod=33NA19p13.11Score=967;Name=V$MYOD_Q6NANANArs1167914230.000599042NA0.002NANA0.0010.00030.00050.6T0.003B0.001B0.015N0.817D1.005L-2.69D-0.708T0.435T0.8328.355-1.5-0.4310.4054.1640.831761NA0.790.0001160.000454NANANA11.3329174
191732159617321596GAexonicMYO9BNAnonsynonymous SNVexonicENSG00000099331NAnonsynonymous SNVNANA19p13.11NANANANArs1995228180.000199681NANANA0.0008NA0.00030.00070.73T0.051B0.004B0.387N1.000N0.695N-1.77D-0.867T0.320T1.410.625.012.3213.15112.4071.3999741.3999740.50.0001180.000712NANANA11.3329154
146224908362249083CTexonicSNAPC1NAnonsynonymous SNVexonicENSG00000023608NAnonsynonymous SNVScore=304;Name=lod=23NA14q23.2NANANANArs140945950NANANANANANA0.00060.00030.33T0.181B0.074B0.481N0.995D1.1L..-1.099T0.181T1.52911.065.281.6020.52814.5251.5289431.5289430.030.0003490NANANA11.3323844
11006826110068261AGexonicRBP7NAnonsynonymous SNVexonicENSG00000162444NAnonsynonymous SNVScore=558;Name=lod=246NA1p36.22NANANANArs1456181740.0001996810.001NANANANA0.00030.00050.03D0.042B0.031B0.012N0.658N1.65L3.13T-1.093T0.021T2.27913.582.990.6564.3966.3052.2788532.2788530.030.0003490.000454NANANA11.3316844
82477481224774812GAexonicNEFMNAnonsynonymous SNVexonicENSG00000104722NAnonsynonymous SNVNANA8p21.2NANANANArs617510470.0009984030.001NANA0.003NA0.00060.00340.29T0.002B0.001B0.075N1.000N2.35M-1.61D-0.171T0.702D-0.9070.4241.680.4991.7856.416-0.906998NA0.050.0004650.003404ID=COSM454338;OCCURENCE=1(breast)NANA11.3312684
111874026918740269GAexonicIGSF22NAnonsynonymous SNVexonicENSG00000179057NAnonsynonymous SNVNANA11p15.1NANANANArs2014660350.0005990420.002NA0.0014NANA0.00070.00090.03D0.999D0.96D0.073U1.000N1.965M0.61T-0.918T0.191T2.98715.96-0.237-0.3290.1413.8402.9871412.9871410.060.0008550NANANA11.3297784
23759989637599896ACexonicQPCTNAnonsynonymous SNVexonicENSG00000115828NAnonsynonymous SNVScore=577;Name=lod=295NA2p22.2NANANANArs1399346640.001198080.003NA0.00290.0008NA0.00140.00260.26T0.149B0.125B0.000N1.000D1.28L0.79T-1.048T0.111T2.1513.142.090.1083.30814.3732.1495542.1495540.140.0012790.000681NANANA11.3276544
1111957583111957583AGexonicOVGP1NAnonsynonymous SNVexonicENSG00000085465NAnonsynonymous SNVNANA1p13.2NAName=RXRA,FOSL2NANArs1126656NANANANANANA0.00650.220.47T0.0B0.0B..1.000P-1.24N3.83T-0.937T0.001T-0.6151.263-5.76-3.042-2.1051.698-0.615397NA0.11NANANA0.051NA11.3268334
223821957038219570CGexonicGALR3NAnonsynonymous SNVexonicENSG00000128310NAnonsynonymous SNVScore=415;Name=lod=65NA22q13.1NANANANArs786508360.0009984030.001NA0.00290.00080.0010.00370.0060.61T0.12B0.023B0.001N0.986N0.595N1.23T-1.053T0.031T1.64411.454.242.8852.0776.6971.6437891.6437890.760.0060470.001135NANANA11.3225864
158916973889169738GAexonicAENNAnonsynonymous SNVexonicENSG00000181026NAnonsynonymous SNVNANA15q26.1NAName=Pol2NANArs1474775490.001597440.006NA0.00140.0008NA0.00280.010.76T0.006B0.002B0.007N1.000N-0.255N2.31T-1.010T0.011T-0.571.433-6.78-1.137-1.1683.393-0.569745NA0.480.0038380.000455NANANA11.3206954
2220097286220097286GAexonicANKZF1NAnonsynonymous SNVexonicENSG00000163516NAnonsynonymous SNVNANA2q35NANANANArs2005067190.001996810.004NANANA0.00610.00660.0110.79T0.176B0.037B0.120N1.000N2.125M1.76T-1.009T0.042T1.85712.174.661.5762.40710.0221.8567581.8567580.040.0060720.002347NA0.007NA11.3166614
1957728235772823GCexonicCATSPERDNAnonsynonymous SNVexonicENSG00000174898NAnonsynonymous SNVNANA19p13.3NANANANArs1436603930.002396170.008NA0.0043NA0.0010.00420.010.01D1.0D0.996D0.307N1.000N2.045M1.67T-1.055T0.106T2.59114.631.950.8030.8105.3002.5913322.5913320.010.005310.00141NA0.036NA11.3158234
173419006934190069CAexonicC17orf66NAnonsynonymous SNVexonicENSG00000172653NAnonsynonymous SNVNANA17q12Score=822;Name=V$HNF4_01_BNANANArs1156413630.002795530.0099NA0.0029NA0.0020.00480.0110.54T0.386B0.232B0.382N1.000N0.805L0.82T-1.056T0.052T0.7017.741-5.35-1.235-1.1672.7220.701267NA0.170.0061630.001589NA0.007NA11.3124704
2121726366121726366CTexonicGLI2NAsynonymous SNVexonicENSG00000074047NAnonsynonymous SNVScore=457;Name=lod=96NA2q14.2NANANANArs1427934810.003594250.00890.0020.0014NA0.00610.00730.010D0.008B0.002B..1.000D....-0.994T0.122T4.12421.3-4.85-0.744-0.85114.4354.1243124.12431200.0054650.001589NANANA10.978335
139882917598829175CGexonicRNF113BNAnonsynonymous SNVexonicENSG00000139797NAnonsynonymous SNVScore=702;Name=lod=953NA13q32.2NANANANANANANANANANANANANA0.71T0.804P0.446B0.002U1.000N1.045L1.49T-1.027T0.050T2.04712.81.160.9364.9518.1842.0466542.0466540.65NANANANANA10.8333334
7142637601142637601TCexonicC7orf34NAnonsynonymous SNVexonicENSG00000165131NAnonsynonymous SNVNANA7q34NANANANArs1480108640.000798722NANA0.00290.0015NA0.00050.00280.01D0.597P0.199B0.003N1.000N0.69N..-1.054T0.053T1.65511.493.330.8462.3307.1631.654831.654830.030.0006980.000227NANANA10.8321354
27331560473315604CTexonicRAB11FIP5NAnonsynonymous SNVexonicENSG00000135631NAnonsynonymous SNVNANA2p13.2NANANANArs1995170710.0003993610.002NANANANA0.000083070.00260.34T0.998D0.747P0.258N1.000N1.61L0.91T-1.032T0.126T2.29813.643.281.0740.0875.8352.2983962.2983960.58NANANANANA10.8312503
12121593936121593936CTexonicP2RX7NAnonsynonymous SNVexonicENSG00000089041NAnonsynonymous SNVNANA12q24.31NANAName=3NArs283604450.0009984030.002NA0.0043NANA0.00130.010D0.976D0.657P0.544N1.000N0N3.64T-0.944T0.008T1.19.489-1.17-0.427-0.1065.9731.100292NA00.0019770.000454NANANA10.8280564
5171765882171765882CTexonicSH3PXD2BNAnonsynonymous SNVexonicENSG00000174705NAnonsynonymous SNVNANA5q35.1Score=714;Name=V$P53_01NANANArs1411030050.002396170.003NANANA0.00920.00130.0026..0.53P0.059B0.052N1.000N0.695N0.13T-1.055T0.083T-0.5971.33-4.75-0.9161.1831.810-0.59705NA0.060.0012790.000454NA0.043NA10.8277544
1957835155783515GAexonicPRR22NAnonsynonymous SNVexonicENSG00000212123NAnonsynonymous SNVNANA19p13.3NAName=Pol2,Pol2-4H8NANArs345729340.0009984030.003NA0.0029NANA0.00160.00280.17T0.999D0.889P..1.000N0.975L-0.04T-0.890T0.246T2.49914.322.360.7170.4367.7742.49912.49910.020.0024610.002537NA0.036NA10.8262724
27136043171360431GAexonicMPHOSPH10NAnonsynonymous SNVexonicENSG00000124383NAnonsynonymous SNVNANA2p13.3NANANANArs1507572040.0009984030.003NA0.0029NANA0.00170.00310.18T0.753P0.195B0.622N1.000N1.355L2.93T-1.042T0.028T1.76311.854.162.5281.82110.8481.7626251.7626250.270.003140.000227NANANA10.8254934
1156641746156641746CGexonicNESNAnonsynonymous SNVexonicENSG00000132688NAnonsynonymous SNVNANA1q23.1NANANANArs1406520000.0001996810.001NANANANA0.00320.00410D0.915P0.321B..1.000N1.525L-2.27D-0.647T0.294T2.04412.79-3.54-0.414-0.7847.4172.0436512.04365100.004070NANANA10.8250634
156497049664970496CTexonicZNF609NAnonsynonymous SNVexonicENSG00000180357NAnonsynonymous SNVNANA15q22.31NANANANArs1465223590.001397760.004NA0.00290.0008NA0.00220.0110.08T0.567P0.092B0.311N1.000N0.345N0.94T-1.039T0.062T1.99912.645.622.6402.92112.9371.9991851.9991850.020.0046520.001362NA0.007NA10.8224814
34745267647452676GAexonicPTPN23NAnonsynonymous SNVexonicENSG00000076201NAnonsynonymous SNVNANA3p21.31Score=866;Name=V$YY1_01NANANArs1383293110.003594250.0099NA0.00860.00080.0010.00780.010.54T0.909P0.128B0.000N1.000N0.345N3.92T-0.855T0.004T1.0349.2242.360.6112.8278.3041.03403NA0.470.0098480.00117NANANA10.8057854
204208961342089613GAexonicSRSF6NAsynonymous SNVexonicENSG00000124193NAsynonymous SNVScore=536;Name=lod=201NA20q13.11Score=879;Name=V$MAZR_01Name=Pol2-4H8,HEY1Name=6NANANANANANANANA0.0001NANANANANANANANANANANANANANANANANANANANANANANANANA0.305371NANANANANANANA10.6665666
1990066639006663CTexonicMUC16NAsynonymous SNVexonicENSG00000181143NAsynonymous SNVNANA19p13.2Score=748;Name=V$NRSF_01NANANArs3763223940.000998403NA0.001NA0.00230.0010.00040.0005..............-1.037T0.059T-0.5821.387-5.98-5.897-11.1094.038-0.581746NANA00.000502NANANA10.6662666
2182783550182783550AGexonicSSFA2NAsynonymous SNVexonicENSG00000138434NAsynonymous SNVScore=625;Name=lod=462NA2q31.3NAName=MafK_(ab50322)NANArs788946630.005790730.001NA0.00290.0197NA0.00250.027........1.000D....-0.998T0.087T1.2059.8922.520.2050.6249.0811.204576NANA0.0001160.026782NANANA10.6630506
5102343291102343291CAexonicPAMNAsynonymous SNVexonicENSG00000145730NAsynonymous SNVScore=599;Name=lod=364NA5q21.1Score=861;Name=V$IRF1_01NANANArs347460260.005591050.003NA0.0014NA0.02450.0050.011........1.000D....-0.979T0.124T0.9118.7063.350.7200.3280.8920.910841NANA0.0044190.000908NA0.007NA10.6542476
3167248948167248948TCexonicWDR49NAnonsynonymous SNVexonicENSG00000174776NAnonsynonymous SNVScore=431;Name=lod=75NA3q26.1NANANANANANANANANANANANANA0.43T0.008B0.001B0.081N1.000N0.925L1.63T-1.032T0.066T-0.5461.5243.150.3980.8887.950-0.546232NA0.12NANANANANA10.3333334
4169393005169393005CTexonicDDX60LNAnonsynonymous SNVexonicENSG00000181381NAnonsynonymous SNVNANA4q32.3NANANANANANANANANANANANANA0.07T0.341B0.124B0.643U1.000N1.1L2.3T-1.024T0.035T2.26413.532.310.1764.7599.1132.2640162.2640160.02NANANANANA10.3333334
6126210903126210903GTexonicNCOA7NAnonsynonymous SNVexonicENSG00000111912NAnonsynonymous SNVNANA6q22.32NANANANANANANANANANANANANA0.23T0.1B0.054B0.283N1.000N0.805L1.46T-1.028T0.018T-0.6970.9832.661.4340.6774.318-0.696532NA0NANANANANA10.3333334
83070605530706055GCexonicTEX15NAnonsynonymous SNVexonicENSG00000133863NAnonsynonymous SNVNANA8p12NANANANANANANANANANANANANA0D0.004B0.006B0.082N1.000N-0.11N2.82T-1.004T0.010T1.37410.52-3.57-0.583-0.4850.3671.3742621.3742620.18NANANANANA10.3333334
1235602095235602095GCexonicTBCENAnonsynonymous SNVexonicENSG00000116957NAnonsynonymous SNVScore=389;Name=lod=51NA1q42.3NANANANANANANANANANANA0.000008239NA0.62T0.001B0.003B0.024N0.720N1.24L1.93T-1.028T0.040T0.3225.7482.560.906-0.0187.5610.322375NA0.47NANANANANA10.3333252
8145112442145112442GAexonicOPLAHNAnonsynonymous SNVexonicENSG00000178814NAnonsynonymous SNVNANA8q24.3NANANANANANANANANANANA0.000039NA0.27T0.009B0.007B0.101N0.980N....-0.900T0.106T2.49614.33.22.025-0.01212.2172.4955362.4955360.28NANANANANA10.3332944
155638588656385886TCexonicRFX7NAnonsynonymous SNVexonicENSG00000181827NAnonsynonymous SNVScore=696;Name=lod=901NA15q21.3NANANANArs3751770460.000199681NANANA0.0008NA0.000099580.00030.75T0.0B0.0B0.031N0.507N-0.55N0.77T-1.018T0.039T-1.1330.115-8.18-1.633-0.34116.183-1.132757NA0.8200.000262NANANA10.3332338
1175049305175049305CAexonicTNNNAnonsynonymous SNVexonicENSG00000120332NAnonsynonymous SNVNANA1q25.1NANANANANANANANANANANA0.0001NA0.09T0.04B0.063B0.306N1.000N0.6N3.97T-0.954T0.011T2.00412.663.70.7041.39212.2922.0040752.0040750.03NANANANANA10.3332334
191148664311486643CGexonicSWSAP1NAnonsynonymous SNVexonicENSG00000173928NAnonsynonymous SNVNANA19p13.2NAName=Pol2NANArs150033461NANANANANANA0.0002NA0.12T0.164B0.027B0.527N1.000N0.895L0.86T-1.034T0.076T2.1513.152.861.0510.0023.3432.1500132.1500130.05NANANANANA10.3331334
10126715565126715565CTexonicCTBP2NAnonsynonymous SNVexonicENSG00000175029NAnonsynonymous SNVNANA10q26.13NANANANArs1432817060.000199681NANANANA0.0010.000091460.00010D0.957D0.312B0.491N1.000N..-1.7D-0.635T0.336T1.34410.421.450.2040.0402.6571.3439451.34394500.0001160NANANA10.3331259
20744428744428GAexonicSLC52A3NAnonsynonymous SNVexonicENSG00000101276NAnonsynonymous SNVScore=333;Name=lod=30NA20p13Score=847;Name=V$ER_Q6NANANArs1501598420.000998403NANA0.0072NANA0.00020.00020.05D0.003B0.003B0.875N1.000N1.39L-0.59T-0.884T0.211T1.78811.94-0.1510.0770.5034.4461.7884921.7884920.040.0001160.000227NANANA10.3330174
225029810050298100GCexonicALG12NAnonsynonymous SNVexonicENSG00000182858NAnonsynonymous SNVNANA22q13.33NANANANArs1820069990.000399361NANANANA0.0020.00030.00010.12T0.26B0.207B0.400N1.000N1.33L-0.07T-1.077T0.061T-0.4821.783-9.54-4.196-4.6061.528-0.481512NA0.040.0001160NANANA10.3329174
9125673569125673569CGexonicZBTB6NAnonsynonymous SNVexonicENSG00000186130NAnonsynonymous SNVScore=608;Name=lod=394NA9q33.2NANANANArs1438949460.000199681NANA0.0014NANA0.00020.00280.23T0.048B0.027B0.000D0.981D1.645L2.95T-1.040T0.024T1.61211.35-0.222-0.0080.80010.3871.6124241.6124240.070.0002330NANANA10.3329004
10101639648101639648CTexonicDNMBPNAnonsynonymous SNVexonicENSG00000107554NAnonsynonymous SNVNANA10q24.2NANANANArs199968530NANANANANANA0.00030.00030.48T0.001B0.001B0.184N1.000N0.345N2.8T-1.071T0.038T1.45810.82-9.7-1.438-5.9635.0721.4580871.4580870.680.0003490NANANA10.3326844
193991589639915896AGexonicPLEKHG2NAnonsynonymous SNVexonicENSG00000090924NAnonsynonymous SNVScore=333;Name=lod=30NA19q13.2Score=846;Name=V$NFKB_CName=Pol2NANArs1999995250.000798722NANA0.0058NANA0.00030.0004..0.005B0.011B0.083N0.977N1.185L-0.56T-0.982T0.183T1.91412.361.570.2650.6416.4201.9135481.9135480.130.0003560NANANA10.3326774
115788644157886441CTexonicOR9I1NAnonsynonymous SNVexonicENSG00000172377NAnonsynonymous SNVNANA11q12.1NANANANArs1393006570.000199681NANA0.0014NANA0.00030.00281T0.429B0.099B0.000D1.000N-0.915N9.1T-1.099T0.000T-0.8020.6724.031.4330.0347.138-0.801673NA0.710.0005820.000227ID=COSM415544;OCCURENCE=1(urinary_tract)NANA10.3324514
62484313124843131CTexonicFAM65BNAnonsynonymous SNVexonicENSG00000111913NAnonsynonymous SNVScore=516;Name=lod=166NA6p22.3NANANANArs2019623450.000199681NANA0.0014NANA0.00030.00280.41T0.069B0.039B0.035N0.999D1.24L1.32T-1.087T0.029T2.80115.331.960.6072.8419.1422.8010082.8010080.010.0007320NANANA10.3323014
154356871543568715TCexonicTGM7NAnonsynonymous SNVexonicENSG00000159495NAnonsynonymous SNVScore=507;Name=lod=154NA15q15.2NANANANArs1482748090.0005990420.001NA0.0014NA0.0010.00180.0111T0.003B0.007B0.336N0.951N0.915L-0.19T-0.993T0.122T2.34313.793.30.6471.3058.5392.3432382.3432380.540.0018610.000227NA0.007NA10.3286724
12123187313123187313CGexonicHCAR2NAnonsynonymous SNVexonicENSG00000182782NAnonsynonymous SNVNANA12q24.31Score=815;Name=V$CDPCR3_01NANANArs1443764930.001198080.005NA0.0014NANA0.0018NA0.3T0.008B0.016B0.324N1.000N1.15L1.06T-1.047T0.078T-0.451.915-9.83-2.003-0.13614.223-0.449758NA0.61NANANANANA10.3265334
12123187314123187314CTexonicHCAR2NAnonsynonymous SNVexonicENSG00000182782NAnonsynonymous SNVNANA12q24.31Score=815;Name=V$CDPCR3_01NANANArs1410520380.001198080.005NA0.0014NANA0.0019NA0.26T0.005B0.004B0.324N1.000N0.645N1.07T-1.063T0.047T-0.3632.29-10.5-2.694-1.2761.363-0.362698NA0.6NANANANANA10.3264334
2130931095130931095GAexonicSMPD4NAsynonymous SNVexonicENSG00000136699NAstopgainScore=448;Name=lod=88NA2q21.1NANANANArs1452306160.006389780.004NA0.00430.00380.02040.0040.0110.92T......1.000D........4.10221.1-4.12-0.6770.3621.1294.1021824.10218210.0011630.00227NA0.007NA10.3241703
33930783239307832TCexonicCX3CR1NAnonsynonymous SNVexonicENSG00000168329NAnonsynonymous SNVNANA3p22.2Score=790;Name=V$CMYB_01NANANArs1998111980.0007987220.003NANANA0.0010.00290.00410D0.166B0.096B0.204N1.000N0.41N1.22T-1.029T0.054T1.99212.624.230.897-0.0846.1221.9916761.9916760.10.0040630.000248NANANA10.3233704
47014642370146423GAexonicUGT2B28NAnonsynonymous SNVexonicENSG00000135226NAnonsynonymous SNVNANA4q13.2NANANANArs1502610840.001397760.002NA0.00580.0008NA0.00320.010.62T0.24B0.102B0.190U1.000N-0.345N0.06T-1.041T0.045T-2.0190.006-4.36-4.831-7.7781.429-2.019228NA0.530.0054320.001719NANANA10.3227014
116874750768747507TGexonicMRGPRDNAnonsynonymous SNVexonicENSG00000172938NAnonsynonymous SNVNANA11q13.3NAName=ELF1_(SC-631)NANArs1433098520.002595850.004NA0.00430.00080.00510.00380.010.19T0.007B0.004B0.030U1.000N1.495L3.76T-1.009T0.010T1.23410.01-9.11-1.6490.1629.0181.2337281.2337280.040.0036970.001205NANANA10.3218364
3171452701171452701CTexonicPLD1NAnonsynonymous SNVexonicENSG00000075651NAnonsynonymous SNVNANA3q26.31NANANANArs1489725950.002396170.005NA0.00720.00080.0010.00250.010.28T0.013B0.022B0.000N1.000N1.115L3.32T-1.059T0.039T2.18113.254.011.4361.4689.0582.1814832.1814830.070.0044190.000908NA0.007NA10.3214144
1981710678171067CTexonicFBN3NAnonsynonymous SNVexonicENSG00000142449NAnonsynonymous SNVScore=572;Name=lod=281NA19p13.2NANANANArs1512741630.0009984030.005NANANANA0.00580.011T0.0B0.0B0.023N0.994N0.475N-3.77D-0.509T0.512D-1.8310.009-0.849-0.252-0.29311.606-1.830866NA10.0054650.002724ID=COSM1157870;OCCURENCE=1(pancreas)NANA10.3170684
2220099713220099713CTexonicANKZF1NAnonsynonymous SNVexonicENSG00000163516NAnonsynonymous SNVNANA2q35NANANANArs1403958410.001996810.004NANANA0.00610.00660.0110.21T0.048B0.01B0.106N1.000N1.87L1.9T-1.087T0.050T-0.3722.2475.22.7051.80015.585-0.372488NA0.10.0059780.002217NA0.007NA10.3167554
83886920738869207GAexonicADAM9NAnonsynonymous SNVexonicENSG00000168615NAnonsynonymous SNVScore=498;Name=lod=141NA8p11.22Score=833;Name=V$OCT1_02NANANArs617536720.003993610.005NA0.00290.00080.01230.00640.0110.97T0.084B0.097B0.003N0.633N0.28N3.24T-0.951T0.008T0.3495.8921.190.4691.0846.3020.348613NA0.30.005930.000454NA0.007NA10.3160034
16723506723506CTexonicRHOT2NAnonsynonymous SNVexonicENSG00000140983NAnonsynonymous SNVNANA16p13.3NANAName=4NArs1479735040.002795530.006NA0.0029NA0.00610.00530.0110.12T0.021B0.017B0.007N0.733N0.345N2.58T-1.024T0.017T1.40510.634.642.1390.46814.9961.4048651.4048650.040.0064010.000909ID=COSM328360;OCCURENCE=1(pancreas)0.007NA10.3156324
191400120614001206GAexonicC19orf57NAnonsynonymous SNVexonicENSG00000132016NAnonsynonymous SNVNANA19p13.12NANANANArs1445024460.002795530.0089NA0.00140.00230.0010.00720.0110.25T0.0B0.001B..1.000N0.145N1.67T-1.066T0.020T-0.8960.447-5.29-3.561-4.4660.575-0.895879NA0.270.0064090.001136NA0.007NA10.3108244
55224085052240850CAexonicITGA1NAnonsynonymous SNVexonicENSG00000213949NAnonsynonymous SNVScore=450;Name=lod=90NA5q11.2Score=791;Name=V$MEF2_02NAName=20NArs1511027560.005391370.01290.0010.0014NA0.01230.00720.010.41T0.136B0.017B0.042N0.860N0.64N0.79T-1.103T0.039T2.01112.680.4240.381-0.5920.5432.0106772.0106770.120.0079070.001362NANANA10.3053264
222113383121133831CAexonicSERPIND1NAnonsynonymous SNVexonicENSG00000099937NAnonsynonymous SNVNANA22q11.21NANANANArs59030.003394570.0119NA0.0043NA0.0020.00690.00971T0.0B0.0B0.001N1.000N-0.295N-1.53D-0.812T0.089T0.1644.885-11.5-1.815-2.1717.5760.164489NA10.0096510.00227NANANA10.3048824
74461037644610376GAexonicDDX56NAstopgainexonicENSG00000136271NAstopgainNANA7p13Score=730;Name=V$PPARG_01NANANANANANANANANANA0.000008267NA0.36T....0.176N1.000N........14.196481.50.2560.87413.21614.19591814.1959180.51NANANANANA9.9999917
9118162670118162670CAexonicDEC1NAnonsynonymous SNVexonicENSG00000173077NAnonsynonymous SNVNANA9q33.1NANANANANANANANANANANA0.000008293NA0D0.722P0.156B..1.000N..0.19T-1.023T0.112T0.0324.178-1.37-0.540-0.1996.5630.031525NANANANAID=COSM202034;OCCURENCE=1(large_intestine)NANA9.8333251
69036843190368431TAexonicMDN1NAnonsynonymous SNVexonicENSG00000112159NAnonsynonymous SNVScore=272;Name=lod=17NA6q15NANANANArs139030773NANANANANANA0.000049420.00050.36T0.759P0.202B0.000D0.668N1.1L3.8T-0.820T0.004T1.95312.491.020.3610.1037.2651.9527331.9527330.060.0001160.000454NANANA9.833168
1161018422161018422CGexonicARHGAP30NAnonsynonymous SNVexonicENSG00000186517NAnonsynonymous SNVNANA1q23.3NANANANArs617333530.0081869NANA0.00290.0295NA0.00240.0190.03D0.553P0.343B0.438N1.000N2.015M3.01T-1.021T0.037T0.3696.0030.7560.282-0.3104.0190.369047NA0.030.0001160.018838NA0.007NA9.8308174
133290513329051GAexonicPRDM16NAnonsynonymous SNVexonicENSG00000142611NAnonsynonymous SNVScore=582;Name=lod=308NA1p36.32NANANANArs1493334090.0007987220.003NA0.0014NANA0.00120.010.07T0.8P0.259B0.071U0.920N1.87L3.45T-1.031T0.012T0.2015.0841.680.2411.8775.9220.201188NA0.020.0024020NANANA9.8267314
16727983567279835GAexonicWDR78NAnonsynonymous SNVexonicENSG00000152763NAnonsynonymous SNVNANA1p31.3NANANANArs1487349450.0009984030.004NA0.0014NANA0.00190.010.03D0.498P0.153B0.335N1.000N0.345N0.35T-0.993T0.073T0.6227.3471.770.2931.1778.2010.622068NA0.010.0035050.000454NA0.007NA9.8239284
10105037868105037868CTexonicINANAsynonymous SNVexonicENSG00000148798NAsynonymous SNVScore=791;Name=lod=2184NA10q24.33Score=847;Name=V$ELK1_01NAName=3NANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANA1.183071NANANANANANANA9.6666666
191093981610939816CTexonicDNM2NAsynonymous SNVexonicENSG00000079805NAsynonymous SNVScore=552;Name=lod=233NA19p13.2NAName=CTCF,ZBTB33,CTCF_(SC-5916)Name=8NANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANA-0.706356NANANANANANANA9.6666666
1774064767406476GCexonicPOLR2ANAsynonymous SNVexonicENSG00000181222NAsynonymous SNVScore=560;Name=lod=251NA17p13.1NAName=CTCF_(C-20),CTCF,CTCF_(SC-5916),Pol2-4H8,SMC3_(ab9263),Rad21Name=14NANANANANANANANA0.000008624NANANANANANANANANANANANANANANANANANANANANANANANANA1.103732NANANANANANANA9.666658
6116325143116325143GAexonicFRKNAsynonymous SNVexonicENSG00000111816NAsynonymous SNVScore=540;Name=lod=209NA6q22.1NAName=JunD,PU.1Name=7NANANANANANANANA0.00001657NANANANANANANANANANANANANANANANANANANANANANANANANA0.4737NANANANANANANA9.66665
11116661330116661330GAexonicAPOA5NAsynonymous SNVexonicENSG00000110243NAsynonymous SNVScore=433;Name=lod=77NA11q23.3Score=960;Name=V$USF_CNAName=8NANANANANANANANA0.00001861NANANANANANANANANANANANANANANANANANANANANANANANANA0.832431NANANANANANANA9.666648
117686774576867745GAexonicMYO7ANAsynonymous SNVexonicENSG00000137474NAsynonymous SNVScore=525;Name=lod=181NA11q13.5Score=734;Name=V$PPARG_01NANAScore=87;Name=431899_0_+_87rs344771440.0009984030.001NA0.00140.00150.0010.00250.01NANANANANANANANANANANANANANANANANANANANANANANANA1.103259NANA0.0027240NANACLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036177.1;CLNDSDB=.;CLNDSDBID=.9.6604426
7151859523151859523GAexonicMLL3NAsynonymous SNVexonicENSG00000055609NAsynonymous SNVNANA7q36.1NANAName=3NArs1404820400.001198080.004NA0.0029NANA0.00290.0045........1.000N........1.40110.623.41.2680.6306.3241.401191.40119NA0.0045350.000227NANANA9.6552316
171055191910551919GCexonicMYH3NAsynonymous SNVexonicENSG00000109063NAsynonymous SNVScore=488;Name=lod=128NA17p13.1Score=987;Name=V$IK2_01Name=CTCFName=4NArs1471489340.003194890.003NA0.00720.00080.00720.00480.01NANANANANANANANANANANANANANANANANANANANANANANANA0.531339NANA0.0047670.00227NANANA9.6540996
1879482879482GCexonicSAMD11NAsynonymous SNVexonicENSG00000187634NAsynonymous SNVNANA1p36.33NANANANArs1498807980.003993610.0149NA0.0072NANA0.00620.020.01D....0.000D0.690N....-0.968T0.056T-0.8430.567-5.2-0.861-0.1133.898-0.842805NANA0.0088370.001816NANANA9.6367296
82536514825365148CTexonicCDCA2NAnonsynonymous SNVexonicENSG00000184661NAnonsynonymous SNVNANA8p21.2NANAName=24NANANANANANANANANANA0.29T0.178B0.165B0.159N1.000N0.805L1.44T-1.036T0.054T2.19613.30.5420.073-0.2201.9292.1957312.1957310.06NANANANANA9.3333334
193634255136342551CGexonicNPHS1NAnonsynonymous SNVexonicENSG00000161270NAnonsynonymous SNVNANA19q13.12NANANANANANANANANANANA0.00001963NA0.04D0.442B0.135B0.002N1.000N0.46N-0.71T-0.891T0.178T3.6718.651.410.574.7.2263.6697843.6697840.03NANANANANA9.3333138
9135140221135140221GAexonicSETXNAnonsynonymous SNVexonicENSG00000107290NAnonsynonymous SNVNANA9q34.13NANANANArs376524608NANANANANANA0.000041180.00010.25T0.041B0.011B0.065N1.000N1.67L-1.73D-0.448T0.554D2.06412.860.0490.1540.6457.8482.0642542.0642540.080.0001160NANANA9.3331762
145122698351226983GAexonicNINNAnonsynonymous SNVexonicENSG00000100503NAnonsynonymous SNVNANA14q22.1NAName=YY1Name=3NArs147946706NANANANANANA0.00030.00010.32T0.002B0.009B0.980N1.000N0.4N3.51T-0.949T0.021T1.0959.4671.720.2840.4436.8371.094578NA0.160.0001160NANANA9.3329174
93586949835869498CTexonicOR13J1NAnonsynonymous SNVexonicENSG00000168828NAnonsynonymous SNVNANA9p13.3NANANANArs146834712NANANANANANA0.00020.00050.02D0.01B0.002B0.254N1.000N1.04L1.19T-1.018T0.071T0.4576.4812.660.417-0.38711.9450.456986NA0.010.0004650NANANA9.3326684
16291077062910770AGexonicUSP1NAnonsynonymous SNVexonicENSG00000162607NAnonsynonymous SNVNANA1p31.3NANANANANA0.0001996810.001NANANANA0.000008339NA0.74T0.0B0.003B0.026N1.000N1.245L2.29T-0.985T0.019T1.1129.536-2.73-0.3310.3440.5371.112106NA0.32NANANANANA9.3323251
89625994896259948TCexonicC8orf37NAnonsynonymous SNVexonicENSG00000156172NAnonsynonymous SNVScore=363;Name=lod=40NA8q22.1NANANANArs1481145320.000998403NANANANA0.00510.00070.00060.1T0.433B0.127B0.007N0.955N1.87L-1.65D-0.551T0.422T2.83915.461.450.0060.56113.0872.8387872.8387870.30.0005810NANANA9.3320524
204451125444511254CTexonicZSWIM1NAnonsynonymous SNVexonicENSG00000168612NAnonsynonymous SNVNANA20q13.12NAName=NRSFNANArs351656400.0001996810.001NANANANA0.00020.00130.02D0.011B0.001B..1.000N0N1.84T-1.014T0.028T0.0734.3950.014-0.031-0.0163.8790.072866NA0.210.0003490NANANA9.3317844
195508746855087468GAexonicLILRA2NAnonsynonymous SNVexonicENSG00000239998NAnonsynonymous SNVNANA19q13.42NANANANArs1511544590.0003993610.001NA0.0014NANA0.00080.0013..0.009B0.047B0.154N1.000N-0.07N4.4T-0.915T0.005T-1.5030.017-3.32-0.506-2.3634.249-1.502921NA10.0005810.000227NANANA9.3309524
107096861370968613CAexonicSUPV3L1NAnonsynonymous SNVexonicENSG00000156502NAnonsynonymous SNVNANA10q22.1Score=764;Name=V$PAX5_01NANANArs2009005440.0001996810.001NANANANA0.00070.00130.39T0.012B0.01B0.989N1.000N0.895L1.58T-0.999T0.041T-1.9520.007-2.32-0.391-0.2592.626-1.951546NA0.960.0008140.000227NANANA9.3308194
1150131687150131687CTexonicPLEKHO1NAnonsynonymous SNVexonicENSG00000023902NAnonsynonymous SNVNANA1q21.2Score=837;Name=V$GRE_CName=Pol2-4H8,c-FosNANArs1503822280.0003993610.001NA0.0014NANA0.00110.00280.32T0.063B0.016B0.999N1.000N0N1.06T-0.981T0.022T1.56811.2-0.7920.0160.55213.3721.5679331.5679330.120.0011630NANANA9.3300704
10126172791126172791GAexonicLHPPNAnonsynonymous SNVexonicENSG00000107902NAnonsynonymous SNVNANA10q26.13NANANANArs1489623330.0001996810.001NANANANA0.00090.00170.4T0.008B0.009B0.664N1.000N1.02L1.67T-1.021T0.045T0.1674.897-7.11-1.870-0.1298.0110.166709NA0.380.0017440.000227NANANA9.3296894
213212747032127470TCexonicKRTAP21-1NAnonsynonymous SNVexonicENSG00000187005NAnonsynonymous SNVScore=389;Name=lod=51NA21q22.11NANANANArs1483482780.00199681NANANANA0.01020.0030.00140D0.008B0.006B..1.000N....-1.003T0.073T0.0994.5330.6140.2370.1035.7750.099027NA00.0013950.000227NANANA9.3289384
168452033984520339TCexonicTLDC1NAnonsynonymous SNVexonicENSG00000140950NAnonsynonymous SNVNANA16q24.1NANANANArs1414595200.0005990420.003NANANANA0.00090.00130.03D0.071B0.107B0.011N1.000N1.44L0.96T-0.983T0.095T-0.1213.411.750.0161.4228.882-0.120503NA0.170.0012790.000455NANANA9.3281544
66611514666115146CTexonicEYSNAnonsynonymous SNVexonicENSG00000188107NAnonsynonymous SNVNANA6q12NANANANArs1128222560.002196490.003NANA0.00530.0010.00180.0110.03D0.001B0.001B..1.000N0.6N-1.61D-0.827T0.246T0.9849.018-1.66-0.6790.1036.7560.984254NA0.010.0012790.006128NA0.007NA9.3272544
145550991955509919GAexonicSOCS4NAnonsynonymous SNVexonicENSG00000180008NAnonsynonymous SNVNANA14q22.3NANANANArs1464217240.001797120.003NA0.0086NANA0.00140.00280.15T0.0B0.0B0.310N1.000N0N1.48T-1.024T0.035T-0.3952.148-4.77-1.350-0.4336.006-0.395268NA0.20.0017440NANANA9.3271894
123299407332994073GAexonicPKP2NAnonsynonymous SNVexonicENSG00000057294NAnonsynonymous SNVNANA12p11.21NANANANArs1468825810.003793930.005NA0.00290.0091NA0.00230.010.12T0.198B0.032B0.002N1.000N1.56L-1.07T-0.835T0.225T-0.1373.3272.010.0680.5028.816-0.137495NA0.080.0023260.006355NANACLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038172.1;CLNDSDB=.;CLNDSDBID=.9.3237074
9136340625136340625CTexonicSLC2A6NAnonsynonymous SNVexonicENSG00000160326NAnonsynonymous SNVScore=426;Name=lod=72NA9q34.2NANANANArs1478541600.0007987220.003NA0.0014NANA0.00260.00510.37T0.021B0.003B0.042N0.996N-0.525N-0.84T-1.018T0.092T0.5987.2250.6440.2061.1896.9880.598187NA0.80.0051170.00091NANANA9.3226164
125713223657132236CTexonicPRIM1NAnonsynonymous SNVexonicENSG00000198056NAnonsynonymous SNVScore=456;Name=lod=95NA12q13.3NANANANArs1432460890.002595850.004NA0.01010.00080.0010.00670.010.2T0.0B0.0B0.448N1.000N-1.1N0.96T-1.029T0.025T1.1079.5162.00.349-0.2176.0711.106991NA0.530.0084270.00134NANANA9.3142064
3100364914100364914GAexonicGPR128NAnonsynonymous SNVexonicENSG00000144820NAnonsynonymous SNVNANA3q12.2NANANANArs617428360.004193290.0159NA0.00430.0015NA0.00490.0110.75T0.001B0.002B0.866N1.000N1.155L1.44T-0.992T0.044T1.2119.917-2.94-0.446-1.5827.0781.211071NA0.290.0074420.001135NA0.007NA9.3050914
61110548311105483CAexonicERVFRD-1NAnonsynonymous SNVexonicENSG00000244476NAnonsynonymous SNVNANA6p24.2NANANANANANANANANANANA0.000033130.0110.04D0.743P0.095B..0.670N0.345N2.43T-0.962T0.007T1.91412.360.2350.3080.305.1.9137891.913789NANANANA0.007NA8.8333003
11433417433417CTexonicANO9NAnonsynonymous SNVexonicENSG00000185101NAnonsynonymous SNVNANA11p15.5NANANANArs1501634230.0001996810.001NANANANA0.00080.00090.02D0.454P0.115B0.000N1.000N0.805L-0.27T-0.922T0.169T-0.7540.8060.4330.114-0.7833.842-0.75377NA0.120.000930.000454NANANA8.8306034
121503591915035919TCexonicMGPNAnonsynonymous SNVexonicENSG00000111341NAnonsynonymous SNVNANA12p12.3NANANANArs18017160.003993610.003NA0.0043NA0.01430.00510.010.28T0.454P0.026B0.556N1.000N1.245L1.52T-1.047T0.031T1.36910.51.860.1661.7994.4131.3689781.3689780.550.0048840.000908NANANA8.8203494
1161126745161126745GAexonicUFC1NAsynonymous SNVexonicENSG00000143222NAsynonymous SNVScore=507;Name=lod=154NA1q23.3Score=843;Name=V$FOXO4_02NANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANA0.952975NANANANANANANA8.6666666
39956963899569638TCexonicFILIP1LNAsynonymous SNVexonicENSG00000168386NAsynonymous SNVScore=616;Name=lod=425NA3q12.1NANAName=19NANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANA0.447102NANANANANANANA8.6666666
12132490838132490838CGexonicEP400NAsynonymous SNVexonicENSG00000183495NAsynonymous SNVScore=462;Name=lod=101NA12q24.33NANAName=2NANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANA0.890294NANANANANANANA8.6666666
24802679948026799CTexonicMSH6NAsynonymous SNVexonicENSG00000116062NAsynonymous SNVScore=493;Name=lod=135NA2p16.3NAName=BCL3NANArs63749893NANANANANANA0.000008266NANANANANANANANANANANANANANANANANANANANANANANANANA-0.057606NANANANANANACLINSIG=unknown;CLNDBN=Lynch_syndrome;CLNREVSTAT=exp;CLNACC=RCV000074679.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:3150580058.6666583
2087458178745817GAexonicPLCB1NAsynonymous SNVexonicENSG00000182621NAsynonymous SNVScore=457;Name=lod=96NA20p12.3Score=836;Name=V$RFX1_02NANANANANANANANANANA0.00002492NANANANANANANANANANANANANANANANANANANANANANANANANA1.109695NANANANANANANA8.6666417
1940287984028798GCexonicPIAS4NAsynonymous SNVexonicENSG00000105229NAsynonymous SNVScore=589;Name=lod=329NA19p13.3Score=798;Name=V$COMP1_01NANANANANANANANANANA0.00002496NANANANANANANANANANANANANANANANANANANANANANANANANA1.151904NANANANANANANA8.6666416
194221389842213898CTexonicCEACAM5NAsynonymous SNVexonicENSG00000105388,ENSG00000267881NAsynonymous SNVNANA19q13.2NANANANANANANANANANANA0.00003341NA........1.000N....-1.000T0.058T-0.3852.194-0.9930.156-1.7675.338-0.3845NANANANANANANA8.6666332
109935862999358629CTexonicHOGA1NAsynonymous SNVexonicENSG00000241935NAsynonymous SNVScore=471;Name=lod=109NA10q24.2NANAName=6NANANANANANANANA0.00004943NANANANANANANANANANANANANANANANANANANANANANANANANA1.043967NANANANANANANA8.6666172
204522115945221159CTexonicSLC13A3NAsynonymous SNVexonicENSG00000158296NAsynonymous SNVNANA20q13.12NANANANArs139819116NANANANANANA0.000049770.0005........1.000D....-0.784T0.130T0.918.703-10.6-3.351-0.5817.2430.910273NANA00.000454ID=COSM189078;OCCURENCE=1(large_intestine)NANA8.6666168
192191031321910313CGexonicZNF100NAsynonymous SNVexonicENSG00000197020NAsynonymous SNVScore=366;Name=lod=41NA19p12NAName=ZNF274NANANANANANANANANA0.00005017NANANANANANANANANANANANANANANANANANANANANANANANANA-0.164785NANANANANANANA8.6666164
116487638364876383CTexonicVPS51NAsynonymous SNVexonicENSG00000149823NAsynonymous SNVScore=585;Name=lod=317NA11q13.1NAName=ERalpha_a,c-Myc,p300,Pol2,GATA3_(SC-268),FOXA1_(C-20)Name=5NArs143862116NANANANANANA0.00005185NANANANANANANANANANANANANANANANANANANANANANANANANA0.386751NANANANANANANA8.6666148
12133384698133384698CTexonicGOLGA3NAsynonymous SNVexonicENSG00000090615NAsynonymous SNVScore=417;Name=lod=66NA12q24.33Score=707;Name=V$NRSF_01NANANANANANANANANANA0.00006016NANANANANANANANANANANANANANANANANANANANANANANANANA-0.589333NANANANANANANA8.6666064
72082483320824833GAexonicSP8NAsynonymous SNVexonicENSG00000164651NAsynonymous SNVScore=715;Name=lod=1072NA7p21.1Score=855;Name=V$CEBPB_02Name=CTCFNANArs374176171NANANANANANA0.00020.0001NANANANANANANANANANANANANANANANANANANANANANANANA0.35515NA00.0001380NANANA8.6663286
194130714041307140CTexonicEGLN2NAsynonymous SNVexonicENSG00000269858NAsynonymous SNVScore=577;Name=lod=296NA19q13.2Score=743;Name=V$TAXCREB_02Name=Pol2-4H8NANArs1509735730.00199681NANA0.00580.0045NA0.00070.01NANANANANANANANANANANANANANANANANANANANANANANANA1.041245NANA0.0001160.004087ID=COSM1393896;OCCURENCE=1(large_intestine)NANA8.6658506
149329963193299631CTexonicGOLGA5NAsynonymous SNVexonicENSG00000066455NAsynonymous SNVNANA14q32.12NANANANArs3718553740.0003993610.001NANA0.0008NA0.00020.0005........1.000N....-1.028T0.059T1.41310.66-10.4-2.363-1.2188.6661.4131761.413176NA0.0004650NANANA8.6650016
142193685521936855TGexonicRAB2BNAsynonymous SNVexonicENSG00000129472NAsynonymous SNVScore=635;Name=lod=510NA14q11.2Score=925;Name=V$LMO2COM_01NANANANA0.00339457NANANANA0.01740.0018NANANANANANANANANANANANANANANANANANANANANANANANANA1.5087841.508784NANANANANANA8.6648666
222970466229704662CTexonicGAS2L1NAsynonymous SNVexonicENSG00000185340NAsynonymous SNVNANA22q12.2NAName=Egr-1Name=5NANA0.00119808NANANANA0.00610.0018NANANANANANANANANANANANANANANANANANANANANANANANANA0.876715NANANANANANANA8.6648666
82477198424771984GTexonicNEFMNAsynonymous SNVexonicENSG00000104722NAsynonymous SNVScore=823;Name=lod=2949NA8p21.2Score=855;Name=V$CHOP_01NAName=81NArs617354630.001996810.001NANA0.0068NA0.00080.0066NANANANANANANANANANANANANANANANANANANANANANANANA0.956319NANA0.0004650.006582NANANA8.6644016
125609481656094816CTexonicITGA7NAsynonymous SNVexonicENSG00000135424NAsynonymous SNVScore=622;Name=lod=448NA12q13.2Score=1000;Name=V$MZF1_01Name=c-JunNANArs1454636770.0007987220.002NA0.0014NA0.0010.00080.0028NANANANANANANANANANANANANANANANANANANANANANANANA0.593918NANA0.0010470.000454NANANA8.6628196
7103969525103969525CTexonicLHFPL3NAsynonymous SNVexonicENSG00000187416NAsynonymous SNVScore=831;Name=lod=3182NA7q22.2Score=786;Name=V$AHR_01NAName=3NArs1850705160.0005990420.002NA0.0014NANA0.00090.0028NANANANANANANANANANANANANANANANANANANANANANANANA0.996819NANA0.0009520NANANA8.6628146
10115804956115804956CAexonicADRB1NAsynonymous SNVexonicENSG00000043591NAsynonymous SNVScore=747;Name=lod=1448NA10q25.3NAName=ELF1_(SC-631),PAX5-C20,MaxName=23NArs1416339520.000199681NANANANA0.0010.0020.0037NANANANANANANANANANANANANANANANANANANANANANANANA0.06735NANA0.0037430.000912NANANA8.6609236
191297588412975884CTexonicMAST1NAsynonymous SNVexonicENSG00000105613NAsynonymous SNVScore=542;Name=lod=212NA19p13.2Score=802;Name=V$XBP1_01Name=TCF4NANArs359523110.002595850.003NA0.0014NA0.00920.00430.011NANANANANANANANANANANANANANANANANANANANANANANANA0.556803NANA0.0066280.001362NA0.007NA8.6527386
63328150533281505CAexonicTAPBPNAsynonymous SNVexonicENSG00000231925NAsynonymous SNVNANA6p21.32Score=829;Name=V$EGR1_01Name=EBF,BAF155,EBF1_(C-8),CEBPB,Pol2,TBPName=111NArs455015920.003394570.0089NA0.00290.00080.00510.00510.0076NANANANANANANANANANANANANANANANANANANANANANANANA-0.104785NANA0.0075720.001366NANANA8.6450946
67296795272967952GAexonicRIMS1NAsynonymous SNVexonicENSG00000079841NAsynonymous SNVScore=697;Name=lod=907NA6q13NANANANArs412654930.004792330.0139NA0.0014NA0.00920.00790.011........1.000D....-1.027T0.061T0.8988.65-0.137-0.0360.3881.8880.898107NANA0.0097680.002564NA0.007NA8.6350986
2182766624182766624CAexonicSSFA2NAnonsynonymous SNVexonicENSG00000138434NAnonsynonymous SNVNANA2q31.3NANANANANANANANANANANANANA0.69T0.0B0.001B0.415N0.960N0.345N2.76T-0.976T0.017T-0.0833.5941.560.0800.2280.793-0.08308NA0.29NANANANANA8.3333334
13329244233292442CTexonicS100PBPNAnonsynonymous SNVexonicENSG00000116497NAnonsynonymous SNVNANA1p35.1NANANANArs146571632NANANANANANA0.00010.0005..0.043B0.029B0.000N1.000N0.805L..-1.043T0.060T1.1289.5972.620.3720.0745.5491.127564NA000.000454NANANA8.3332334
149918353299183532CTexonicC14orf177NAnonsynonymous SNVexonicENSG00000176605NAnonsynonymous SNVNANA14q32.2NANANANArs143969442NANANANANANA0.00020.00050D0.0B0.0B..1.000N0N1.14T-1.028T0.040T1.2259.968-0.782-0.137-0.0774.2521.224784NANA0.0004650.000227ID=COSM355766;OCCURENCE=1(lung)NANA8.3326684
1292569729256972CTexonicA2MNAnonsynonymous SNVexonicENSG00000175899NAnonsynonymous SNVNANA12p13.31NANANANArs200364039NANANANANANA0.00080.00040.19T0.051B0.006B0.861N1.000N1.575L1.64T-1.004T0.068T0.6217.340.749-0.061-1.2068.1600.620724NA0.190.0003650NANANA8.3321684
152934625729346257CTexonicAPBA2NAnonsynonymous SNVexonicENSG00000034053NAnonsynonymous SNVScore=313;Name=lod=25NA15q13.1NANANANArs1413585680.0007987220.001NA0.0043NANA0.00040.010.15T0.0B0.001B0.607N1.000N-0.41N1.02T-1.027T0.040T0.4446.4121.710.360-0.2859.1870.444058NA0.280.0006980.000681ID=COSM268249;OCCURENCE=1(ovary),1(large_intestine),1(endometrium)NANA8.3312354
116348778263487782CTexonicRTN3NAnonsynonymous SNVexonicENSG00000133318NAnonsynonymous SNVNANA11q13.1NANAName=49NArs1168074900.00858626NANA0.00290.031NA0.00210.0220.41T0.021B0.013B0.025N1.000N0.145N1.98T-1.023T0.015T1.41710.680.155-0.0450.0037.7131.4173221.4173220.4500.021808NA0.014NA8.3312334
142470500424705004GTexonicGMPR2NAnonsynonymous SNVexonicENSG00000100938NAnonsynonymous SNVNANA14q12Score=830;Name=V$MRF2_01NANANArs455306360.0005990420.001NA0.0014NA0.0010.00030.00280.23T0.004B0.017B0.415N1.000N-0.345N-1.13T-0.985T0.152T1.99812.64-0.0530.2350.8422.5111.9977761.9977760.140.0008430NANANA8.3311904
12125299559125299559GAexonicSCARB1NAnonsynonymous SNVexonicENSG00000073060NAnonsynonymous SNVNANA12q24.31NANANANArs1502229650.00199681NANA0.0029NA0.00820.00280.00280.19T0.047B0.016B0.363N1.000N1.12L-0.65T-0.962T0.197T1.2249.966-4.44-0.743-0.2415.6461.224264NA0.160.0019770.001135NANANA8.3285564
9130479638130479638GAexonicTTC16NAnonsynonymous SNVexonicENSG00000167094NAnonsynonymous SNVNANA9q34.11NANANANArs1397538250.0007987220.002NA0.0029NANA0.00110.00190.65T0.925P0.626P0.096N1.000N1.115L0.66T-0.983T0.102T2.3913.950.1070.1200.0697.5922.389652.389650.660.001860NANANA8.3283734
176189845961898459CTexonicFTSJ3NAnonsynonymous SNVexonicENSG00000108592NAnonsynonymous SNVNANA17q23.3NAName=Pol2NANArs1415775370.0005990420.002NA0.0014NANA0.00120.00280.77T0.001B0.018B0.054N1.000N0N1.58T-0.997T0.026T1.82512.06-0.723-0.226-0.1344.5681.8245661.8245660.190.0022090.000227NANANA8.3279244
2113831941113831941GAexonicIL1F10NAnonsynonymous SNVexonicENSG00000136697NAnonsynonymous SNVNANA2q13NANANANArs728278720.001996810.001NA0.0043NA0.00610.00360.00480.58T0.001B0.001B0.026N1.000N1.445L1.38T-1.030T0.085T0.476.5492.80.6410.7797.5680.469618NA0.090.0047670.001135NA0.065NA8.3239664
223810922738109227CGexonicTRIOBPNAnonsynonymous SNVexonicENSG00000100106NAnonsynonymous SNVNANA22q13.1NANANANArs1996461350.000798722NANA0.00430.0008NA0.00490.010D0.02B0.008B..1.000N0.695N2.03T-1.004T0.021T1.45310.8-0.516-0.0480.4084.031.4532211.45322100.0080170.000529NANANA8.3204164
8110457592110457592CTexonicPKHD1L1NAnonsynonymous SNVexonicENSG00000205038NAnonsynonymous SNVNANA8q23.1NANANANArs1489828210.001397760.007NANANANA0.00230.010.58T0.0B0.002B0.031N1.000N-0.805N-2.39D-0.829T0.199T-0.4411.9510.580.1450.5184.534-0.441195NA0.080.0037540.000517NANANA8.3202794
11113267947113267947CAexonicANKK1NAnonsynonymous SNVexonicENSG00000170209NAnonsynonymous SNVScore=304;Name=lod=23NA11q23.2NANANANArs1386081710.0009984030.005NANANANA0.00310.010.87T0.079B0.063B0.234N0.999N-0.32N1.56T-0.996T0.016T-0.2222.925-0.6120.0170.1583.197-0.22226NA0.720.0053470.000476NANANA8.3198864
124972415349724153TAexonicTROAPNAnonsynonymous SNVexonicENSG00000135451NAnonsynonymous SNVNANA12q13.12NANANANArs1431834720.002196490.004NANANA0.00720.00660.010.82T0.103B0.058B0.062N1.000N1.24L..-1.026T0.051T1.2259.971-5.91-0.919-0.5477.7111.225472NA0.870.0070930.000681NANANA8.3156404
1225152253225152253CTexonicDNAH14NAnonsynonymous SNVexonicENSG00000185842NAnonsynonymous SNVNANA1q42.12NANANANArs412673490.003594250.0089NA0.00430.00380.0010.00590.010.06T0.059B0.027B0.717N1.000N..2.27T-1.027T0.037T1.79211.950.6030.2541.3212.1941.7920511.7920510.080.0065220.003625NANANA8.3120114
1935511253551125CTexonicMFSD12NAsynonymous SNVexonicENSG00000161091NAnonsynonymous SNVNANA19p13.3Score=808;Name=V$PAX5_01Name=Pol2NANArs617338540.001597440.007NA0.0014NANA0.00690.01NANANANANANANANANANANANANANANANANANANANANANANANA0.060997NANA0.0066910.001705NANANA7.979409
399700889970088CTexonicIL17RCNAnonsynonymous SNVexonicENSG00000163702NAnonsynonymous SNVNANA3p25.3NANANANArs117199810.000798722NA0.0010.0014NA0.0020.00170.00170.79T0.462P0.023B0.617N1.000N0.035N2.49T-0.978T0.011T-0.6311.205-0.0820.1400.2803.667-0.631326NA0.510.0017460.000909NANANA7.8298874
79970489299704892CTexonicTAF6NAnonsynonymous SNVexonicENSG00000106290NAnonsynonymous SNVNANA7q22.1NANANANArs1463480210.001397760.003NA0.0058NANA0.00360.010.83T0.6P0.208B0.006N0.867N0N0.93T-1.004T0.028T2.49814.311.010.310-0.0996.7662.4980762.4980760.30.0051390.000459NANANA7.8215944
10134218287134218287GAexonicPWWP2BNAnonsynonymous SNVexonicENSG00000171813NAnonsynonymous SNVNANA10q26.3NANANANArs1998720850.001397760.003NA0.00290.00080.0010.00480.010.5T0.892P0.163B0.265N1.000N-0.14N1.55T-1.055T0.043T1.61511.36-0.469-0.2400.2866.8631.6146371.6146370.390.0049030.000744NANANA7.8206304
1158906715158906715CTexonicPYHIN1NAsynonymous SNVexonicENSG00000163564NAsynonymous SNVNANA1q23.1Score=891;Name=V$EVI1_06NANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANA-0.838178NANANANANANANA7.6666666
25547658255476582TCexonicMTIF2NAsynonymous SNVexonicENSG00000085760NAsynonymous SNVNANA2p16.1Score=824;Name=V$PAX3_01NANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANA1.4087051.408705NANANANANANA7.6666666
2120849134120849134GAexonicEPB41L5NAsynonymous SNVexonicENSG00000115109NAsynonymous SNVScore=587;Name=lod=325NA2q14.2NANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANA-0.899925NANANANANANANA7.6666666
65189303751893037GTexonicPKHD1NAsynonymous SNVexonicENSG00000170927NAsynonymous SNVScore=309;Name=lod=24NA6p12.2NANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANA-0.553054NANANANANANANA7.6666666
72044923920449239AGexonicITGB8NAsynonymous SNVexonicENSG00000105855NAsynonymous SNVScore=632;Name=lod=494NA7p21.1NANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANA0.863262NANANANANANANA7.6666666
920395752039575CTexonicSMARCA2NAsynonymous SNVexonicENSG00000080503NAsynonymous SNVScore=460;Name=lod=99NA9p24.3NANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANA1.4944211.494421NANANANANANA7.6666666
34708802847088028GAexonicSETD2NAsynonymous SNVexonicENSG00000181555NAsynonymous SNVNANA3p21.31Score=855;Name=V$AP4_01NANANANANANANANANANA0.00000824NANANANANANANANANANANANANANANANANANANANANANANANANA0.726036NANANANANANANA7.6666584
1628139612813961ATexonicSRRM2NAsynonymous SNVexonicENSG00000167978NAsynonymous SNVNANA16p13.3NAName=Pol2(phosphoS2)NANANANANANANANANA0.000008264NANANANANANANANANANANANANANANANANANANANANANANANANA-1.760836NANANANANANANA7.6666583
177916475279164752CTexonicAZI1NAsynonymous SNVexonicENSG00000141577NAsynonymous SNVScore=358;Name=lod=38NA17q25.3NANANANANANANANANANANA0.000008514NANANANANANANANANANANANANANANANANANANANANANANANANA0.850059NANANANANANANA7.6666581
116413721864137218CTexonicRPS6KA4NAsynonymous SNVexonicENSG00000162302NAsynonymous SNVScore=561;Name=lod=253NA11q13.1NANANANANANANANANANANA0.00000932NANANANANANANANANANANANANANANANANANANANANANANANANA1.4023421.402342NANANANANANA7.6666573
1618104591810459CTexonicMAPK8IP3NAsynonymous SNVexonicENSG00000138834NAsynonymous SNVScore=549;Name=lod=228NA16p13.3NANANANANANANANANANANA0.00004151NANANANANANANANANANANANANANANANANANANANANANANANANA0.711969NANANANANANANA7.6666251
39768049397680493CAexonicMINANAsynonymous SNVexonicENSG00000170854NAsynonymous SNVNANA3q11.2Score=828;Name=V$FREAC4_01NANANANANANANANANANA0.0000579NANANANANANANANANANANANANANANANANANANANANANANANANA0.212759NANANANANANANA7.6666087
34869963648699636CTexonicCELSR3NAsynonymous SNVexonicENSG00000008300NAsynonymous SNVNANA3p21.31NAName=NRSFNANANANANANANANANA0.00006836NANANANANANANANANANANANANANANANANANANANANANANANANA0.179707NANANANANANANA7.6665982
152757215327572153CTexonicGABRG3NAsynonymous SNVexonicENSG00000182256NAsynonymous SNVScore=512;Name=lod=161NA15q12Score=805;Name=V$PBX1_02NANANArs3766763200.000199681NANA0.0014NANA0.00030.0003NANANANANANANANANANANANANANANANANANANANANANANANA0.536718NANA00.000257ID=COSM1372205;OCCURENCE=1(large_intestine)NANA7.6663666
86910472269104722CTexonicPREX2NAsynonymous SNVexonicENSG00000046889NAsynonymous SNVNANA8q13.2NAName=HA-E2F1,E2F6_(H-50)Name=6NArs617537050.000399361NANA0.0029NANA0.00040.01NANANANANANANANANANANANANANANANANANANANANANANANA-0.632216NANANANANANANA7.6662666
5148689617148689617CTexonicAFAP1L1NAsynonymous SNVexonicENSG00000157510NAsynonymous SNVScore=587;Name=lod=325NA5q32Score=956;Name=V$AP4_Q5NANANArs139614291NANANANANANA0.00010.0005NANANANANANANANANANANANANANANANANANANANANANANANA1.152516NANA0.0003490.000454NANANA7.6662176
191812375718123757GAexonicARRDC2NAsynonymous SNVexonicENSG00000105643NAsynonymous SNVScore=470;Name=lod=108NA19p13.11Score=964;Name=V$TCF11_01NANANArs1405708000.000199681NANA0.0014NANA0.00020.0003NANANANANANANANANANANANANANANANANANANANANANANANA0.279701NANA0.0003490NANANA7.6661176
9114131316114131316TCexonicKIAA0368NAsynonymous SNVexonicENSG00000136813NAsynonymous SNVScore=443;Name=lod=84NA9q31.3NANANANANA0.0001996810.001NANANANA0.00001755NANANANANANANANANANANANANANANANANANANANANANANANANA0.196511NANANANANANANA7.665649
9138651555138651555GAexonicKCNT1NAsynonymous SNVexonicENSG00000107147NAsynonymous SNVNANA9q34.3Score=772;Name=V$PAX5_02Name=ZNF263,JunDNANArs142756900NANANANANANA0.00060.0006NANANANANANANANANANANANANANANANANANANANANANANANA0.564634NANA0.0005810NANANA7.6654856
98014411480144114CTexonicGNA14NAsynonymous SNVexonicENSG00000156049NAsynonymous SNVScore=622;Name=lod=448NA9q21.2Score=866;Name=V$HAND1E47_01NANANArs1477095590.0005990420.001NA0.0029NANA0.00030.0001NANANANANANANANANANANANANANANANANANANANANANANANA1.4192881.419288NA0.0001160NANANA7.6652506
146221248662212486TCexonicHIF1ANAsynonymous SNVexonicENSG00000100644NAsynonymous SNVScore=607;Name=lod=391NA14q23.2Score=820;Name=V$OCT1_04NANANArs1490199500.0005990420.001NA0.0014NA0.0010.00040.0028NANANANANANANANANANANANANANANANANANANANANANANANA1.3407991.340799NA0.0002330.000227NANANA7.6650336
2196774877196774877AGexonicDNAH7NAsynonymous SNVexonicENSG00000118997NAsynonymous SNVScore=501;Name=lod=145NA2q32.3Score=931;Name=V$LMO2COM_01NANANArs2005758090.0001996810.001NANANANA0.00030.0004NANANANANANANANANANANANANANANANANANANANANANANANA1.208386NANA0.0003650NANANA7.6650016
47393051973930519GAexonicCOX18NAsynonymous SNVexonicENSG00000163626NAsynonymous SNVScore=501;Name=lod=145NA4q13.3NANAName=15NArs617414330.00259585NANA0.00290.0083NA0.00150.011NANANANANANANANANANANANANANANANANANANANANANANANA0.532201NANA0.0002330.011348NANANA7.6649336
64981423949814239GAexonicCRISP1NAsynonymous SNVexonicENSG00000124812NAsynonymous SNVScore=383;Name=lod=48NA6p12.3NAName=TAL1_(SC-12984)NANArs138679779NANANANANANA0.00060.0014NANANANANANANANANANANANANANANANANANANANANANANANA-0.660061NANA0.0013950.000454NANANA7.6646716
15534931855349318GAexonicDHCR24NAsynonymous SNVexonicENSG00000116133NAsynonymous SNVScore=622;Name=lod=451NA1p32.3Score=791;Name=V$CART1_01NANANArs617331340.0071885NANA0.00140.0265NA0.00210.033NANANANANANANANANANANANANANANANANANANANANANANANA1.2448731.244873NA0.0003490.020654NA0.022NA7.6642176
1205628425205628425GAexonicSLC45A3NAsynonymous SNVexonicENSG00000158715NAsynonymous SNVNANA1q32.1Score=867;Name=V$YY1_01NAName=132NArs1432827810.000199681NANANANA0.0010.00130.0013NANANANANANANANANANANANANANANANANANANANANANANANA1.032311NANA0.0012790.000681NANANA7.6640876
158160561281605612CTexonicSTARD5NAsynonymous SNVexonicENSG00000172345NAsynonymous SNVNANA15q25.1NAName=STAT3,CEBPB,p300,Pol2(b),GR,JunD,c-Fos,ERalpha_a,Max,c-JunName=114NArs616591950.00778754NANANA0.0295NA0.00280.025NANANANANANANANANANANANANANANANANANANANANANANANA0.165718NA0.010.0001160.024739NA0.014NA7.6637506
27179775471797754CTexonicDYSFNAsynonymous SNVexonicENSG00000135636NAsynonymous SNVScore=521;Name=lod=175NA2p13.2Score=834;Name=V$MRF2_01NANANArs1434757510.0003993610.001NA0.0014NANA0.00090.001NANANANANANANANANANANANANANANANANANANANANANANANA-0.36781NANA0.0010470NANANA7.6637196
57935173879351738AGexonicTHBS4NAsynonymous SNVexonicENSG00000113296NAsynonymous SNVNANA5q14.1NAName=EBFName=12NArs178825130.003394570.001NA0.00430.0098NA0.00150.011NANANANANANANANANANANANANANANANANANANANANANANANA-0.651602NANA0.0005810.007717NA0.007NA7.6635856
162308036323080363GAexonicUSP31NAsynonymous SNVexonicENSG00000103404NAsynonymous SNVScore=366;Name=lod=41NA16p12.2Score=851;Name=V$FAC1_01NANANArs1465544150.0007987220.002NA0.0029NANA0.00060.0028NANANANANANANANANANANANANANANANANANANANANANANANA0.36519NANA0.0005810.000683NANANA7.6634856
165217016521701CTexonicTNFRSF25NAsynonymous SNVexonicENSG00000215788NAsynonymous SNVScore=628;Name=lod=477NA1p36.31Score=860;Name=V$P300_01NANANArs1495950850.0003993610.002NANANANA0.00030.0041NANANANANANANANANANANANANANANANANANANANANANANANA1.5478961.547896NA0.0010470NANANA7.6633196
X28359642835964GAexonicARSDNAsynonymous SNVexonicENSG00000006756NAsynonymous SNVNANAXp22.33NAName=CCNT2,HMGN3,YY1Name=5NArs73632972NANANANANANA0.0045NANANANANANANANANANANANANANANANANANANANANANANANANA-1.118953NANANANANANANA7.6621666
1157177805717780CTexonicTRIM22NAsynonymous SNVexonicENSG00000132274NAsynonymous SNVNANA11p15.4Score=820;Name=V$E4BP4_01NAName=7NArs617352710.007987220.002NA0.01150.0227NA0.00240.022NANANANANANANANANANANANANANANANANANANANANANANANA1.137621NANA0.0009410.011516NA0.029NA7.6613256
10102762598102762598CTexonicLZTS2NAsynonymous SNVexonicENSG00000107816NAsynonymous SNVScore=403;Name=lod=58NA10q24.31Score=714;Name=V$HOX13_01NANANArs1178764790.006389780.0030.02780.0014NANA0.00460.02NANANANANANANANANANANANANANANANANANANANANANANANA1.4450051.445005NA0.0003490.000227NANANA7.6587176
111607733116077331TCexonicSOX6NAsynonymous SNVexonicENSG00000110693NAsynonymous SNVScore=739;Name=lod=1341NA11p15.2Score=850;Name=V$EVI1_04NANANArs1460223260.001597440.004NA0.00430.0008NA0.00220.01NANANANANANANANANANANANANANANANANANANANANANANANA0.763303NANA0.001980.000682NANANA7.6584866
1975945117594511CTexonicMCOLN1NAsynonymous SNVexonicENSG00000090674NAsynonymous SNVScore=651;Name=lod=588NA19p13.2Score=782;Name=V$PAX2_01NANANArs1477540920.001198080.003NANA0.00150.0010.00250.003NANANANANANANANANANANANANANANANANANANANANANANANA1.4518821.451882NA0.0030230.000908NANANA7.6581436
214754594947545949TCexonicCOL6A2NAsynonymous SNVexonicENSG00000142173NAsynonymous SNVScore=336;Name=lod=31NA21q22.3Score=905;Name=V$RORA1_01NANANArs617358300.0003993610.002NANANANA0.00280.0038NANANANANANANANANANANANANANANANANANANANANANANANA0.113945NANA0.0038370.000908NANANA7.6580296
191321150813211508CTexonicLYL1NAsynonymous SNVexonicENSG00000104903NAsynonymous SNVScore=573;Name=lod=284NA19p13.2NANAName=2NArs1426874630.001597440.001NA0.0029NA0.00510.00390.011NANANANANANANANANANANANANANANANANANANANANANANANA1.3743261.374326NA0.0051160.001816ID=COSM565176;OCCURENCE=1(lung)0.007NA7.6566506
1158262459158262459CTexonicCD1CNAsynonymous SNVexonicENSG00000158481NAsynonymous SNVNANA1q23.1NANANANArs31381030.0009984030.004NA0.0014NANA0.00280.0042........1.000N....-0.977T0.019T0.3986.164-1.61-0.310-2.3892.9740.398461NANA0.0041860.001362NANANA7.6556806
161620871416208714GAexonicABCC1NAsynonymous SNVexonicENSG00000103222NAsynonymous SNVScore=412;Name=lod=63NA16p13.11Score=760;Name=V$PAX6_01NANANArs1910178380.0007987220.003NA0.0014NANA0.00340.0077NANANANANANANANANANANANANANANANANANANANANANANANA0.003538NANA0.0077050.001157NANANA7.6525616
82622032126220321AGexonicPPP2R2ANAsynonymous SNVexonicENSG00000221914NAsynonymous SNVScore=641;Name=lod=536NA8p21.2Score=830;Name=V$E4BP4_01NANANArs1421567980.002795530.008NA0.0086NANA0.0040.01NANANANANANANANANANANANANANANANANANANANANANANANA1.114223NANA0.0024420.000681NANANA7.6522246
168874494988744949GTexonicSNAI3NAsynonymous SNVexonicENSG00000185669NAsynonymous SNVScore=439;Name=lod=81NA16q24.3Score=812;Name=V$CDPCR3_01NANANArs1393756900.004193290.0089NA0.0029NA0.01020.00460.01NANANANANANANANANANANANANANANANANANANANANANANANA0.317645NANA0.004070.000227NANANA7.6490966
214429957344299573CTexonicWDR4NAsynonymous SNVexonicENSG00000160193NAsynonymous SNVNANA21q22.3Score=793;Name=V$CMYB_01Name=ETS1,GRp20,USF1_(SC-8983),ZNF263,c-Jun,THAP1_(SC-98174),YY1_(C-20),SRF,Max,eGFP-JunD,c-Myc,GABP,HA-E2F1,Pol2-4H8,BRCA1_(C-1863),ELF1_(SC-631),E2F4,E2F6,TAF1,NRSF,NFKB,Pol2,USF-1,CEBPB,Sin3Ak-20,HEY1,YY1,HDAC2_(SC-6296),Pol2(phosphoS2)NANArs1382950400.002995210.0080.0010.0029NA0.00410.00450.01NANANANANANANANANANANANANANANANANANANANANANANANA2.0172812.017281NA0.0058150.000454NANANA7.6483516
146093831960938319TCexonicC14orf39NAsynonymous SNVexonicENSG00000179008NAsynonymous SNVScore=517;Name=lod=168NA14q23.1Score=895;Name=V$MSX1_01NANANArs355438390.003194890.0060.0010.00140.00080.00720.00550.01NANANANANANANANANANANANANANANANANANANANANANANANA1.217291NANA0.0074540.001817NA0.051NA7.6477126
34869447148694471CTexonicCELSR3NAsynonymous SNVexonicENSG00000008300NAsynonymous SNVScore=560;Name=lod=251NA3p21.31NANAName=7NArs1452290580.001597440.005NA0.0043NANA0.0060.01NANANANANANANANANANANANANANANANANANANANANANANANA1.199285NANA0.0088430.001136ID=COSM166490;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)NANA7.6468236
166722047967220479GAexonicEXOC3L1NAsynonymous SNVexonicENSG00000179044NAsynonymous SNVScore=412;Name=lod=63NA16q22.1NANAName=42NArs756135640.001996810.008NA0.00140.0008NA0.00510.01NANANANANANANANANANANANANANANANANANANANANANANANA-0.896996NANA0.0080230.00182NANANA7.6455436
156858317268583172CGexonicFEM1BNAsynonymous SNVexonicENSG00000169018NAsynonymous SNVScore=428;Name=lod=73NA15q23Score=707;Name=V$BRACH_01NANANArs1436376600.002196490.0099NANANA0.0010.00590.01NANANANANANANANANANANANANANANANANANANANANANANANA-1.375857NANA0.0065150.000909NANANA7.6443516
3145913061145913061GTexonicPLSCR4NAsynonymous SNVexonicENSG00000114698NAsynonymous SNVNANA3q24NAName=c-Jun,GATA-2,c-Fos,Pol2(b)Name=22NArs344671900.003793930.0129NA0.00140.00080.00410.00570.011NANANANANANANANANANANANANANANANANANANANANANANANA-0.183986NANA0.0070930.001362NA0.007NA7.6409736
34968815549688155CTexonicBSNNAsynonymous SNVexonicENSG00000164061NAsynonymous SNVScore=361;Name=lod=39NA3p21.31Score=710;Name=V$NRSF_01NANANArs1397871010.002196490.0089NA0.00140.0008NA0.00910.01NANANANANANANANANANANANANANANANANANANANANANANANA0.50166NANA0.0095370.001817NANANA7.6391296
2179396573179396573TGexonicTTNNAsynonymous SNVexonicENSG00000155657NAsynonymous SNVScore=619;Name=lod=436NA2q31.2NANANANArs563750870.003793930.0159NA0.0043NANA0.010.02NANANANANANANANANANANANANANANANANANANANANANANANA0.469225NANA0.0067710.000517NANACLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000040946.1|RCV000125986.1;CLNDSDB=.|.;CLNDSDBID=.|.7.6339956
9115759518115759518CTexonicZNF883NAnonsynonymous SNVncRNA_exonicENSG00000228623NANANANA9q32NAName=KAP1,SETDB1Name=8NArs376231861NANANANANANA0.000082930.0002NANANANANANANANANANANANANANANANANANANANANANANANA-0.926876NANA00.000234NANANA7.4999171
225095667550956675CTexonicNCAPH2NAnonsynonymous SNVexonicENSG00000025770NAnonsynonymous SNVNANA22q13.33NANANANArs139403039NANANANANANA0.000091760.00051T0.009B0.008B0.015N1.000N0N..-1.017T0.041T0.6987.7231.130.195-0.7644.5750.697691NA0.30.0001160.000454ID=COSM1035498,COSM1154045;OCCURENCE=1(endometrium)NANA7.3331256
142354979723549797TAexonicACIN1NAnonsynonymous SNVexonicENSG00000100813NAnonsynonymous SNVNANA14q11.2NANANANArs1430407210.0001996810.001NANANANA0.000057660.00010.16T0.002B0.004B0.117N1.000N0.205N2.04T-1.017T0.025T1.26710.131.30.068-0.5627.4931.2667711.2667710.040.0001160NANANA7.3321597
194272906942729069CAexonicZNF526NAnonsynonymous SNVexonicENSG00000167625NAnonsynonymous SNVNANA19q13.2NANANANArs1432315790.0001996810.001NANANANA0.000065910.0003..0.041B0.025B0.800N1.000N1.39L3.0T-0.961T0.022T0.8268.3280.8070.5840.8784.2510.825797NA0.020.0003490NANANA7.3319185
195508746355087463GCexonicLILRA2NAnonsynonymous SNVexonicENSG00000239998NAnonsynonymous SNVNANA19q13.42NANANANArs1406402000.005191690.0010.0010.0014NA0.02350.0010.004..0.0B0.001B0.101N1.000N-3.575N4.11T-0.843T0.001T-1.2470.052-0.7560.048-0.3722.962-1.246702NA0.530.0005810.000227NANANA7.3307524
92123955221239552CTexonicIFNA14NAnonsynonymous SNVexonicENSG00000228083NAnonsynonymous SNVNANA9p21.3NANANANArs283837700.002396170.003NA0.00860.00080.0020.00230.010.07T0.002B0.027B0.677N1.000N1.54L3.5T-0.976T0.013T0.6837.653-0.705-0.028-0.5756.540.68335NA0.070.0046510NANANA7.3233824
1248458766248458766TCexonicOR2T12NAnonsynonymous SNVexonicENSG00000177201NAnonsynonymous SNVNANA1q44NANANANArs413105730.007587860.0050.0010.00430.0219NA0.00290.031T0.0B0.0B0.199N1.000N-2.915N8.1T-0.950T0.000T-1.4370.021.55-0.1590.6567.423-1.436879NA10.0024420.008625ID=COSM1341135;OCCURENCE=1(large_intestine)NANA7.3229914
1948915644891564CTexonicARRDC5NAnonsynonymous SNVexonicENSG00000205784NAnonsynonymous SNVNANA19p13.3NANANANArs1172293230.002396170.006NA0.0058NA0.0020.00390.010.57T0.003B0.003B0.005N1.000N0.975L2.12T-1.006T0.019T-0.3292.4390.4120.339-0.0744.368-0.329008NA0.670.0045650.000753NANANA7.3188684
1168013876168013876GAexonicDCAF6NAnonsynonymous SNVexonicENSG00000143164NAnonsynonymous SNVNANA1q24.2NANANANArs1131510680.001996810.007NA0.0043NANA0.00260.010.58T0.044B0.022B0.054N1.000N0N1.45T-0.971T0.009T1.7311.75-1.27-0.094-0.3431.9011.7303341.7303340.150.0051160.000227NANANA7.3186174
1937529273752927CTexonicAPBA3NAnonsynonymous SNVexonicENSG00000011132NAnonsynonymous SNVNANA19p13.3NANANANArs1171978910.004992010.0089NA0.00430.00080.01230.00690.010.37T0.0B0.0B0.135N1.000N0.525N0.55T-1.052T0.055T0.4586.489-1.63-0.2980.0358.9020.458359NA0.060.0089580.001362NANANA7.3085754
33917581039175810CTexonicTTC21ANAsynonymous SNVexonicENSG00000168026NAsynonymous SNVNANA3p22.2NANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANA-1.405211NANANANANANANA6.6666666
6129813620129813620CTexonicLAMA2NAsynonymous SNVexonicENSG00000196569NAsynonymous SNVNANA6q22.33NANAName=19NArs3189618NANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANA0.729104NANANANANANANA6.6666666
101708314917083149AGexonicCUBNNAsynonymous SNVexonicENSG00000107611NAsynonymous SNVNANA10p13NANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANA-0.425768NANANANANANANA6.6666666
194453672544536725TCexonicZNF222NAsynonymous SNVexonicENSG00000159885NAsynonymous SNVNANA19q13.31NANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANANA0.139963NANANANANANANA6.6666666
484013108401310GAexonicACOX3NAsynonymous SNVexonicENSG00000087008NAsynonymous SNVNANA4p16.1NANANANANANANANANANANA0.000008249NANANANANANANANANANANANANANANANANANANANANANANANANA-0.773892NANANANANANANA6.6666584
8105459708105459708AGexonicDPYSNAsynonymous SNVexonicENSG00000147647NAsynonymous SNVNANA8q22.3NANANANANANANANANANANA0.000008239NANANANANANANANANANANANANANANANANANANANANANANANANA1.013054NANANANANANANA6.6666584
2217280117217280117CTexonicSMARCAL1NAsynonymous SNVexonicENSG00000138375NAsynonymous SNVNANA2q35NANANANANANANANANANANA0.00001647NANANANANANANANANANANANANANANANANANANANANANANANANA0.163757NANANANANANANA6.6666501
920776442077644CTexonicSMARCA2NAsynonymous SNVexonicENSG00000080503NAsynonymous SNVScore=547;Name=lod=223NA9p24.3NANANANArs1498905630.000199681NANANA0.0008NA0.000016480.002NANANANANANANANANANANANANANANANANANANANANANANANA0.595623NANANANANANANA6.6666501
35332656753326567CTexonicDCP1ANAsynonymous SNVexonicENSG00000162290NAsynonymous SNVScore=295;Name=lod=21NA3p21.1NANANANArs200307108NANANANANANA0.00001659NANANANANANANANANANANANANANANANANANANANANANANANANA2.3957622.395762NANANANANANA6.66665
93839591038395910GAexonicALDH1B1NAsynonymous SNVexonicENSG00000137124NAsynonymous SNVNANA9p13.2NANANANANANANANANANANA0.00002473NANANANANANANANANANANANANANANANANANANANANANANANANA-1.349347NANANANANANANA6.6666419
193578668235786682GAexonicMAGNAsynonymous SNVexonicENSG00000105695NAsynonymous SNVNANA19q13.12Score=867;Name=V$SPZ1_01NANANArs1997502540.000199681NANANANA0.0010.00002476NANANANANANANANANANANANANANANANANANANANANANANANANA-0.174811NANANANAID=COSM994929,COSM994928;OCCURENCE=1(large_intestine),1(endometrium)NANA6.6666418
1780467798046779GAexonicPER1NAsynonymous SNVexonicENSG00000179094NAsynonymous SNVNANA17p13.1NANANANANANANANANANANA0.00003935NANANANANANANANANANANANANANANANANANANANANANANANANA-1.515826NANANANANANANA6.6666273
221996745319967453CTexonicARVCFNAsynonymous SNVexonicENSG00000099889NAsynonymous SNVNANA22q11.21NANANANANANANANANANANA0.00006909NANANANANANANANANANANANANANANANANANANANANANANANANA0.390619NANANANANANANA6.6665975
97430019174300191GAexonicTMEM2NAsynonymous SNVexonicENSG00000135048NAsynonymous SNVNANA9q21.13NANANANANANANANANANANA0.00007417NANANANANANANANANANANANANANANANANANANANANANANANANA0.162327NANANANANANANA6.6665924
214353167543531675CTexonicUMODL1NAsynonymous SNVexonicENSG00000177398NAsynonymous SNVNANA21q22.3NAName=EBFNANArs2016489160.000399361NANANA0.0015NA0.00010.002NANANANANANANANANANANANANANANANANANANANANANANANA-0.005235NANANANANANANA6.6665666
12859916028599160CTexonicSESN2NAsynonymous SNVexonicENSG00000130766NAsynonymous SNVScore=496;Name=lod=138NA1p35.3NANANANArs147643685NANANANANANA0.000032960.0002NANANANANANANANANANANANANANANANANANANANANANANANA1.2402481.240248NA0.0001160.000227NANANA6.6665176
87592914275929142TCexonicCRISPLD1NAsynonymous SNVexonicENSG00000121005NAsynonymous SNVScore=560;Name=lod=251NA8q21.11NANANANArs200626463NANANANANANA0.00020.0028NANANANANANANANANANANANANANANANANANANANANANANANA0.411363NANA0.0001180NANANA6.6663486
158046453280464532CAexonicFAHNAsynonymous SNVexonicENSG00000103876NAsynonymous SNVScore=440;Name=lod=82NA15q25.1NANANANArs1470169950.000399361NANANA0.0015NA0.000090630.011NANANANANANANANANANANANANANANANANANANANANANANANA1.224893NANA0.0002330NA0.007NA6.666343
1273617547361754CTexonicPEX5NAsynonymous SNVexonicENSG00000139197NAsynonymous SNVScore=533;Name=lod=195NA12p13.31NANANANArs143571888NANANANANANA0.00030.0005NANANANANANANANANANANANANANANANANANANANANANANANA0.934377NANA0.0002330.000454NANANA6.6661336
175668860556688605GAexonicTEX14NAsynonymous SNVexonicENSG00000121101NAsynonymous SNVScore=451;Name=lod=91NA17q22NANANANArs1929366720.0001996810.001NANANANA0.00020.0013NANANANANANANANANANANANANANANANANANANANANANANANA1.117293NANANANANANANA6.6654666
15522434655224346CTexonicPARS2NAsynonymous SNVexonicENSG00000162396NAsynonymous SNVNANA1p32.3Score=761;Name=V$TCF11MAFG_01NANANArs1459674720.00119808NANANA0.0045NA0.00090.01NANANANANANANANANANANANANANANANANANANANANANANANA-1.40927NANA0.0003490.01044NANANA6.6654176
195282579652825796AGexonicZNF480NAsynonymous SNVexonicENSG00000198464NAsynonymous SNVNANA19q13.41NAName=SETDB1NANArs1507015760.00259585NANANA0.0098NA0.00080.01NANANANANANANANANANANANANANANANANANANANANANANANA-0.378952NANA0.0004650.00522NANANA6.6654016
1109805587109805587GTexonicCELSR2NAsynonymous SNVexonicENSG00000143126NAsynonymous SNVScore=395;Name=lod=54NA1p13.3NANANANArs2008419820.0001996810.001NANANANA0.00020.0001NANANANANANANANANANANANANANANANANANANANANANANANA0.774455NANA0.0001160NANANA6.6653506
133327397333273973ACexonicPDS5BNAsynonymous SNVexonicENSG00000083642NAsynonymous SNVScore=701;Name=lod=941NA13q13.1NANANANArs3718169130.0001996810.001NANANANA0.00030.0001NANANANANANANANANANANANANANANANANANANANANANANANA1.2639811.263981NA0.0001230NANANA6.6652436
34659305846593058GAexonicLRRC2NAsynonymous SNVexonicENSG00000163827NAsynonymous SNVScore=428;Name=lod=73NA3p21.31NANANANArs1463440150.0005990420.001NANANA0.0020.00020.0003NANANANANANANANANANANANANANANANANANANANANANANANA1.099416NANA0.0003490.000227NANANA6.6651176
108737329987373299GAexonicGRID1NAsynonymous SNVexonicENSG00000182771NAsynonymous SNVScore=516;Name=lod=166NA10q23.1NANANANArs1500331400.0001996810.001NANANANA0.00020.0003NANANANANANANANANANANANANANANANANANANANANANANANA1.053053NANA0.0003490NANANA6.6651176
194126955141269551CTexonicSNRPANAsynonymous SNVexonicENSG00000077312NAsynonymous SNVScore=591;Name=lod=337NA19q13.2NANANANArs1164935270.00519169NA0.0030.00580.0144NA0.00170.02NANANANANANANANANANANANANANANANANANANANANANANANA1.166233NANA0.0001160.011348NANANA6.6648506
193370325433703254GAexonicSLC7A10NAsynonymous SNVexonicENSG00000130876NAsynonymous SNVScore=618;Name=lod=434NA19q13.11NANANANArs1155818460.00658946NANA0.00140.0242NA0.00210.022NANANANANANANANANANANANANANANANANANANANANANANANA1.5112051.511205NA0.0003490.0202NA0.014NA6.6642176
1205764031205764031GAexonicSLC41A1NAsynonymous SNVexonicENSG00000133065NAsynonymous SNVScore=579;Name=lod=301NA1q32.1NANANANArs1513050520.000399361NANANANA0.0020.00130.0012NANANANANANANANANANANANANANANANANANANANANANANANA1.3696351.369635NA0.0011630.000454NANANA6.6642036
107697907076979070AGexonicVDAC2NAsynonymous SNVexonicENSG00000165637NAsynonymous SNVScore=615;Name=lod=422NA10q22.2NANANANArs1447041030.0001996810.001NANANANA0.00090.0013NANANANANANANANANANANANANANANANANANANANANANANANA0.805591NANA0.0006980NANANA6.6640686
214574668545746685CTexonicPFKLNAsynonymous SNVexonicENSG00000141959NAsynonymous SNVScore=604;Name=lod=380NA21q22.3NANANANArs1465838750.0007987220.002NA0.0029NANA0.00090.0028NANANANANANANANANANANANANANANANANANANANANANANANA-0.107598NANA0.0003490.000682NANANA6.6634176
108226918582269185CTexonicTSPAN14NAsynonymous SNVexonicENSG00000108219NAsynonymous SNVScore=548;Name=lod=224NA10q23.1NANANANArs1165833600.004592650.001NA0.00430.01360.0010.00190.012NANANANANANANANANANANANANANANANANANANANANANANANA1.4141241.414124NA0.0005810.011802ID=COSM197151;OCCURENCE=1(pancreas),1(large_intestine)0.007NA6.6631856
390554359055435GAexonicSRGAP3NAsynonymous SNVexonicENSG00000196220NAsynonymous SNVScore=618;Name=lod=432NA3p25.3NANANANArs1455318610.000199681NANANA0.0008NA0.00140.0023NANANANANANANANANANANANANANANANANANANANANANANANA1.003317NANA0.0023260.000227NANANA6.6629406
222138366121383661GAexonicSLC7A4NAsynonymous SNVexonicENSG00000099960NAsynonymous SNVScore=590;Name=lod=332NA22q11.21NANANANArs456184350.0009984030.001NA0.0058NANA0.00130.0028NANANANANANANANANANANANANANANANANANANANANANANANA1.043046NANA0.0016280.000908NANANA6.6627386
2219887947219887947GTexonicCCDC108NAsynonymous SNVexonicENSG00000181378NAsynonymous SNVScore=385;Name=lod=49NA2q35NANANANArs1464173520.001996810.0010.001NANA0.00820.00220.0009NANANANANANANANANANANANANANANANANANANANANANANANA0.881703NANA0.000930.000227NANANA6.6625366
106203854762038547GAexonicANK3NAsynonymous SNVexonicENSG00000151150NAsynonymous SNVScore=604;Name=lod=381NA10q21.2NANANANArs773166970.0003993610.002NANANANA0.00060.011NANANANANANANANANANANANANANANANANANANANANANANANA1.377641.37764NA0.001860.000454NA0.007NA6.6622066
72068973420689734GAexonicABCB5NAsynonymous SNVexonicENSG00000004846NAsynonymous SNVScore=500;Name=lod=143NA7p21.1NANANANArs1396339340.001397760.002NA0.00580.0008NA0.00110.011NANANANANANANANANANANANANANANANANANANANANANANANA0.903532NANA0.0018150NA0.007NA6.6617516
165720620557206205CTexonicFAM192ANAsynonymous SNVexonicENSG00000172775NAsynonymous SNVScore=685;Name=lod=811NA16q13NANANANArs1807027540.0007987220.001NA0.0014NA0.0020.00170.011NANANANANANANANANANANANANANANANANANANANANANANANA1.018266NANA0.0023220NA0.007NA6.6616446
3121260205121260205GAexonicPOLQNAsynonymous SNVexonicENSG00000051341NAsynonymous SNVScore=652;Name=lod=595NA3q13.33NANANANArs1422898480.001198080.003NA0.0043NANA0.00070.01NANANANANANANANANANANANANANANANANANANANANANANANA0.81806NANA0.0013950.000681NANANA6.6615716
2172926350172926350GAexonicMETAP1DNAsynonymous SNVexonicENSG00000172878NAsynonymous SNVScore=525;Name=lod=182NA2q31.1NANANANArs1497140870.0007987220.001NANA0.0023NA0.00150.0028NANANANANANANANANANANANANANANANANANANANANANANANA1.12063NANA0.0027910.001135NANANA6.6613756
9137803106137803106GAexonicFCN1NAsynonymous SNVexonicENSG00000085265NAsynonymous SNVNANA9q34.3Score=732;Name=V$SEF1_CNANANArs1429431840.0005990420.003NANANANA0.00180.0026NANANANANANANANANANANANANANANANANANANANANANANANA-1.394818NANA0.0016280NANANA6.6602386
49519822995198229CGexonicSMARCAD1NAsynonymous SNVexonicENSG00000163104NAsynonymous SNVScore=681;Name=lod=779NA4q22.3NANANANArs617626620.0005990420.003NANANANA0.0020.0015NANANANANANANANANANANANANANANANANANANANANANANANA1.090326NANA0.0015120.000454NANANA6.6601546
68885408288854082GAexonicCNR1NAsynonymous SNVexonicENSG00000118432NAsynonymous SNVScore=435;Name=lod=78NA6q15NANANANArs1442339630.00718850.002NA0.00430.0234NA0.00330.02NANANANANANANANANANANANANANANANANANANANANANANANA-0.574087NANA0.0013950.019973NANANA6.6599716
1620271952027195CTexonicTBL3NAsynonymous SNVexonicENSG00000183751NAsynonymous SNVScore=455;Name=lod=94NA16p13.3NANANANArs1481690750.001397760.003NA0.0058NANA0.00160.01NANANANANANANANANANANANANANANANANANANANANANANANA-0.224139NANA0.0025590.000455NANANA6.6595076
1204197978204197978TCexonicPLEKHA6NAsynonymous SNVexonicENSG00000143850NAsynonymous SNVScore=467;Name=lod=105NA1q32.1NANANANArs1421135370.0005990420.002NA0.0014NANA0.00180.0035NANANANANANANANANANANANANANANANANANANANANANANANA1.063056NANA0.0034880.000681NANANA6.6593786
63869085538690855GCexonicDNAH8NAsynonymous SNVexonicENSG00000124721NAsynonymous SNVNANA6p21.2NAName=Pol2-4H8,Pol2(b)NANArs1807231410.001397760.003NA0.0043NA0.0010.00260.01NANANANANANANANANANANANANANANANANANANANANANANANA0.669405NANA0.0027620.000571NANANA6.6583046
114598698045986980GAexonicPHF21ANAsynonymous SNVexonicENSG00000135365NAsynonymous SNVScore=723;Name=lod=1155NA11p11.2NANANANArs356462590.0007987220.003NA0.0014NANA0.00190.01NANANANANANANANANANANANANANANANANANANANANANANANA1.3617241.361724NA0.0036050.001817NANANA6.6581616
21177890711778907CTexonicGREB1NAsynonymous SNVexonicENSG00000196208NAsynonymous SNVScore=529;Name=lod=188NA2p25.1NANANANArs1382732380.001397760.005NANANA0.0020.00110.004NANANANANANANANANANANANANANANANANANANANANANANANA1.082463NANA0.0025490.000526NANANA6.6580176
6111527803111527803TCexonicSLC16A10NAsynonymous SNVexonicENSG00000112394NAsynonymous SNVNANA6q21Score=799;Name=V$OCT1_04NANANArs1493745480.001198080.005NANANA0.0010.00210.01NANANANANANANANANANANANANANANANANANANANANANANANA0.742347NANA0.0016280NANANA6.6579386
1130398663039866GAexonicCARSNAsynonymous SNVexonicENSG00000110619NAsynonymous SNVScore=603;Name=lod=377NA11p15.4NANANANArs800411950.001198080.003NA0.0029NA0.0010.00270.0031NANANANANANANANANANANANANANANANANANANANANANANANA0.399787NANA0.0031410.000681NANANA6.6578256
125792093557920935CAexonicMBD6NAsynonymous SNVexonicENSG00000166987NAsynonymous SNVScore=654;Name=lod=605NA12q13.3NANANANArs769178390.00858626NANA0.00580.02870.0010.00580.033NANANANANANANANANANANANANANANANANANANANANANANANA0.318036NANA0.0031450.03297NA0.014NA6.6577216
99451964594519645GAexonicROR2NAsynonymous SNVexonicENSG00000169071NAsynonymous SNVScore=444;Name=lod=85NA9q22.31NANANANArs1455683680.0007987220.003NANA0.0008NA0.00270.0047NANANANANANANANANANANANANANANANANANANANANANANANA0.837016NANA0.0046510.001362NANANA6.6563156
5118969692118969692AGexonicFAM170ANAsynonymous SNVexonicENSG00000164334NAsynonymous SNVNANA5q23.1Score=833;Name=V$TST1_01NANANArs1481563570.001996810.005NA0.00290.00080.0020.00360.01NANANANANANANANANANANANANANANANANANANANANANANANA-0.205398NANA0.003730.001282NANANA6.6543366
672315217231521CTexonicRREB1NAsynonymous SNVexonicENSG00000124782NAsynonymous SNVScore=455;Name=lod=94NA6p24.3NANANANArs1481165300.002995210.003NANANA0.01230.00490.0051NANANANANANANANANANANANANANANANANANANANANANANANA1.2370421.237042NA0.005120.000908NANANA6.6536466
176711106567111065GAexonicABCA6NAsynonymous SNVexonicENSG00000154262NAsynonymous SNVScore=454;Name=lod=93NA17q24.3NANANANArs1384795970.001397760.003NA0.00430.0008NA0.00330.01NANANANANANANANANANANANANANANANANANANANANANANANA-0.478053NANA0.006860.000908NANANA6.6535066
9134349958134349958ACexonicPRRC2BNAsynonymous SNVexonicENSG00000130723NAsynonymous SNVScore=659;Name=lod=637NA9q34.13NANANANArs2002688880.001597440.004NA0.0058NANA0.00350.0057NANANANANANANANANANANANANANANANANANANANANANANANA0.644339NANA0.0057110.001595NANANA6.6534556
14105850736105850736CTexonicPACS2NAsynonymous SNVexonicENSG00000179364NAsynonymous SNVScore=539;Name=lod=207NA14q32.33NANANANArs1430711120.001797120.005NA0.00430.0008NA0.00420.0049NANANANANANANANANANANANANANANANANANANANANANANANA1.07223NANA0.0048850.001135NANANA6.6525816
4156634600156634600TCexonicGUCY1A3NAsynonymous SNVexonicENSG00000164116NAsynonymous SNVNANA4q32.1Score=775;Name=V$ER_Q6NANANArs1434726640.002396170.006NA0.0072NA0.0010.00360.01NANANANANANANANANANANANANANANANANANANANANANANANA0.52329NANA0.0050.000681NANANA6.6520666
206231991962319919GAexonicRTEL1NAsynonymous SNVexonicENSG00000026036,ENSG00000258366NAsynonymous SNVNANA20q13.33NAName=Pol2,Pol2(phosphoS2)NANArs1169005680.001797120.006NA0.0043NANA0.00410.0049NANANANANANANANANANANANANANANANANANANANANANANANA0.542143NANA0.00490.000456ID=COSM35349;OCCURENCE=1(central_nervous_system)NANA6.6516666
193818969438189694GAexonicZNF607NAsynonymous SNVexonicENSG00000198182NAsynonymous SNVScore=414;Name=lod=64NA19q13.12NANANANArs1173573790.002795530.006NA0.01010.0008NA0.00340.011NANANANANANANANANANANANANANANANANANANANANANANANA0.15107NANA0.0056980.000908NA0.007NA6.6515686
158626238386262383GAexonicAKAP13NAsynonymous SNVexonicENSG00000170776NAsynonymous SNVNANA15q25.3NANAName=2NArs799914990.002396170.007NA0.00580.0008NA0.0030.022NANANANANANANANANANANANANANANANANANANANANANANANA0.582599NANA0.005350.001362NA0.014NA6.6513166
73305531533055315CTexonicNT5C3ANAsynonymous SNVexonicENSG00000122643NAsynonymous SNVScore=622;Name=lod=451NA7p14.3NANANANArs725557460.009384980.0040.0020.0029NA0.03990.00760.022NANANANANANANANANANANANANANANANANANANANANANANANA0.69355NANA0.0043020.000908NA0.014NA6.6507646
73259095132590951GCexonicAVL9NAsynonymous SNVexonicENSG00000105778NAsynonymous SNVScore=662;Name=lod=655NA7p14.3NANANANArs1463425710.001198080.003NA0.0029NA0.0010.00480.011NANANANANANANANANANANANANANANANANANANANANANANANA-0.825969NANA0.0082650.001589NA0.007NA6.6506016
1110256162110256162CGexonicGSTM5NAsynonymous SNVexonicENSG00000134201NAsynonymous SNVScore=551;Name=lod=231NA1p13.3NANANANArs1448398850.00718850.0089NA0.0058NA0.02350.00790.01NANANANANANANANANANANANANANANANANANANANANANANANA1.01377NANANANANANANA6.6498666
932571223257122CTexonicRFX3NAsynonymous SNVexonicENSG00000080298NAsynonymous SNVScore=758;Name=lod=1604NA9p24.2NANANANArs354832630.001198080.005NANANA0.0010.00440.01NANANANANANANANANANANANANANANANANANANANANANANANA1.124845NANA0.0074420.000908NANANA6.6498246
116530412465304124CTexonicSCYL1NAsynonymous SNVexonicENSG00000142186NAsynonymous SNVScore=514;Name=lod=163NA11q13.1NANANANArs562965790.002396170.008NA0.0029NA0.0020.00410.01NANANANANANANANANANANANANANANANANANANANANANANANA1.7137461.713746NA0.005670.001405NANANA6.6488966
12904079929040799AGexonicGMEB1NAsynonymous SNVexonicENSG00000162419NAsynonymous SNVNANA1p35.3Score=960;Name=V$AP2REP_01NANANArs168376670.002196490.004NA0.0014NA0.00610.00630.0083NANANANANANANANANANANANANANANANANANANANANANANANA0.437808NANA0.0082560.001135NANANA6.6481106
1154744807154744807CTexonicKCNN3NAsynonymous SNVexonicENSG00000143603NAsynonymous SNVScore=625;Name=lod=462NA1q21.3NANANANArs10516140.004392970.0089NA0.01010.00150.00410.00990.011NANANANANANANANANANANANANANANANANANANANANANANANA2.6055862.605586NANANANA0.007NA6.6478666
21796292417962924CTexonicGEN1NAsynonymous SNVexonicENSG00000178295NAsynonymous SNVNANA2p24.2NAName=FOXA2_(SC-6554),FOXA1_(C-20),FOXA1_(SC-101058)NANArs1487813340.003394570.0089NA0.0072NA0.00310.00440.01NANANANANANANANANANANANANANANANANANANANANANANANA-0.130331NANA0.0063950.001816NANANA6.6469716
154263291542632915AGexonicGANCNAsynonymous SNVexonicENSG00000214013NAsynonymous SNVScore=369;Name=lod=42NA15q15.1NANANANArs1172642720.003194890.005NA0.0086NA0.00510.00630.022NANANANANANANANANANANANANANANANANANANANANANANANA-0.214277NANA0.0086070.001589NA0.014NA6.6467596
2233347590233347590CTexonicECEL1NAsynonymous SNVexonicENSG00000171551NAsynonymous SNVScore=569;Name=lod=274NA2q37.1NANANANArs11904290.002396170.0089NA0.0043NANA0.00320.01NANANANANANANANANANANANANANANANANANANANANANANANA1.059892NANA0.0080230.001362NANANA6.6465436
195374084953740849AGexonicZNF677NAsynonymous SNVexonicENSG00000197928NAsynonymous SNVNANA19q13.42NAName=SETDB1,KAP1,ZNF274NANArs1470883860.003394570.0099NA0.00580.00080.0020.00520.01NANANANANANANANANANANANANANANANANANANANANANANANA0.711707NANA0.005930.000908ID=COSM1396076;OCCURENCE=1(large_intestine)NANA6.6456366
2173352458173352458CGexonicITGA6NAsynonymous SNVexonicENSG00000091409NAsynonymous SNVScore=531;Name=lod=191NA2q31.1NANANANArs617482470.004592650.008NA0.0014NA0.01430.00530.01NANANANANANANANANANANANANANANANANANANANANANANANA0.958749NANA0.0077910.00227NANANA6.6455756
124249137942491379TAexonicGXYLT1NAsynonymous SNVexonicENSG00000151233NAsynonymous SNVScore=575;Name=lod=289NA12q12NANANANArs1390729420.003194890.008NA0.0072NA0.00310.00530.01NANANANANANANANANANANANANANANANANANANANANANANANA0.340794NANA0.0081770.000539NANANA6.6451896
1146159494615949GAexonicOR52I1NAsynonymous SNVexonicENSG00000232268NAsynonymous SNVScore=343;Name=lod=33NA11p15.4NANANANArs2005730640.003194890.01090.0010.0043NA0.0010.00390.007NANANANANANANANANANANANANANANANANANANANANANANANA0.079148NANA0.006980.000454NANANA6.6448866
1936619163661916GAexonicPIP5K1CNAsynonymous SNVexonicENSG00000186111NAsynonymous SNVScore=606;Name=lod=388NA19p13.3NANANANArs1151364130.002196490.0089NA0.0014NA0.0010.00590.01NANANANANANANANANANANANANANANANANANANANANANANANA-0.17103NANA0.0082560.001589NANANA6.6436106
3120121656120121656GAexonicFSTL1NAsynonymous SNVexonicENSG00000163430NAsynonymous SNVNANA3q13.33Score=777;Name=V$PAX2_01NANANArs1393559170.002396170.0099NA0.00140.0008NA0.00830.01NANANANANANANANANANANANANANANANANANANANANANANANA-1.539513NANA0.0088370.00227NANANA6.6396296
10135086073135086073TCexonicADAM8NAnonsynonymous SNVexonicENSG00000151651NAnonsynonymous SNVNANA10q26.3NANANANArs1432757080.0003993610.002NANANANA0.00070.0013NANANANANANANANANANANANANANANANANANANANANANANANA1.3219081.3219080.270.0012790.000227NANANA6.3293544
48679786797AGexonicZNF595NAunknownncRNA_exonicENSG00000255436NANANANA4p16.3NAName=SETDB1,ZNF274,KAP1NANArs1807429080.001996810.0089NA0.0014NANA0.00540.01NANANANANANANANANANANANANANANANANANANANANANANANA1.073377NANA0.0062320.001873NANANA5.8128013
2103300756103300756GAexonicSLC9A2NAsynonymous SNVexonicENSG00000115616NAsynonymous SNVNANA2q12.1NANANANArs2014287530.000199681NANANA0.0008NA0.000041190.002NANANANANANANANANANANANANANANANANANANANANANANANA-0.287988NANANANANANANA5.6666254
202366940623669406CTexonicCST4NAsynonymous SNVexonicENSG00000101441NAsynonymous SNVNANA20p11.21NANANANArs1916605100.000599042NANA0.00140.0015NA0.00010.011NANANANANANANANANANANANANANANANANANANANANANANANA-0.273506NANA00.000227NA0.007NA5.6665666
1634874703487470AGexonicZNF597NAsynonymous SNVexonicENSG00000167981NAsynonymous SNVNANA16p13.3NANANANArs369212733NANANANANANA0.000032990.0001NANANANANANANANANANANANANANANANANANANANANANANANA-1.287098NANA0.0001160NANANA5.6665176
1615753091575309CTexonicIFT140NAsynonymous SNVexonicENSG00000187535NAsynonymous SNVNANA16p13.3NANANANArs374661866NANANANANANA0.0002NANANANANANANANANANANANANANANANANANANANANANANANANA-0.799387NANANANANANANA5.6664666
11101833008101833008AGexonicKIAA1377NAsynonymous SNVexonicENSG00000110318NAsynonymous SNVNANA11q22.1NANANANArs373938848NANANANANANA0.000091490.0002NANANANANANANANANANANANANANANANANANANANANANANANA-1.290791NANA0.0001160.000227NANANA5.6664591
1229738080229738080GAexonicTAF5LNAsynonymous SNVexonicENSG00000135801NAsynonymous SNVNANA1q42.13NANANANArs1502309380.000798722NANANA0.003NA0.000098860.011NANANANANANANANANANANANANANANANANANANANANANANANA0.419641NANA0.0001160.000227NA0.007NA5.6664517
145125946351259463CTexonicNINNAsynonymous SNVexonicENSG00000100503NAsynonymous SNVNANA14q22.1NANANANArs146441468NANANANANANA0.00020.0001NANANANANANANANANANANANANANANANANANANANANANANANA1.168968NANA0.0001160ID=COSM1370038,COSM1370040,COSM1370039;OCCURENCE=1(large_intestine)NANA5.6663506
16601653601653CTexonicSOLHNAsynonymous SNVexonicENSG00000103326NAsynonymous SNVNANA16p13.3NANANANArs1440755300.00259585NANA0.00140.0091NA0.00090.011NANANANANANANANANANANANANANANANANANANANANANANANA-0.471488NANA0.0002330.008864NA0.007NA5.6655336
195343248353432483GAexonicZNF816-ZNF321PNAsynonymous SNVexonicENSG00000180257,ENSG00000221874NAsynonymous SNVNANA19q13.41NANANANArs373329746NANANANANANA0.00060.0007NANANANANANANANANANANANANANANANANANANANANANANANA-0.776614NANA0.0006980NANANA5.6653686
1773659917365991GAexonicZBTB4NAsynonymous SNVexonicENSG00000174282NAsynonymous SNVNANA17p13.1NANANANArs1382378860.0001996810.001NANANANA0.00030.01NANANANANANANANANANANANANANANANANANANANANANANANA0.216933NANANANANANANA5.6653666
193885121038851210CTexonicCATSPERGNAsynonymous SNVexonicENSG00000099338NAsynonymous SNVNANA19q13.2NANANANArs2001374530.0005990420.001NA0.0029NANA0.00040.0028NANANANANANANANANANANANANANANANANANANANANANANANA-0.092291NANANANANANANA5.6652666
9117063988117063988CTexonicCOL27A1NAsynonymous SNVexonicENSG00000196739NAsynonymous SNVNANA9q32NANANANArs1425050890.0001996810.001NANANANA0.00030.0013NANANANANANANANANANANANANANANANANANANANANANANANA0.678869NANA0.0001160ID=COSM1166305;OCCURENCE=1(large_intestine)NANA5.6652506
101525528315255283GAexonicFAM171A1NAsynonymous SNVexonicENSG00000148468NAsynonymous SNVNANA10p13NANANANArs1399384750.0001996810.001NANANANA0.00020.0013NANANANANANANANANANANANANANANANANANANANANANANANA-1.670128NANA0.0002330NANANA5.6652336
146525366865253668GAexonicSPTBNAsynonymous SNVexonicENSG00000070182NAsynonymous SNVNANA14q23.3NANANANArs1472350450.001397760.001NA0.0014NA0.00510.00120.011NANANANANANANANANANANANANANANANANANANANANANANANA0.339591NANA0.0012790.000227NA0.007NA5.6631876
133701283137012831GAexonicCCNA1NAsynonymous SNVexonicENSG00000133101NAsynonymous SNVNANA13q13.3NANANANArs617552830.003594250.002NA0.00430.0098NA0.00130.011NANANANANANANANANANANANANANANANANANANANANANANANA0.450022NANA0.0006980.001816NA0.007NA5.6626686
125674827356748273GAexonicSTAT2NAsynonymous SNVexonicENSG00000170581NAsynonymous SNVNANA12q13.3NANANANArs1476050880.0005990420.001NA0.0029NANA0.00180.01NANANANANANANANANANANANANANANANANANANANANANANANA-0.033245NANA0.0015120.000454NANANA5.6623546
181306892113068921CTexonicCEP192NAsynonymous SNVexonicENSG00000101639NAsynonymous SNVNANA18p11.21NANANANArs1430419660.001198080.003NA0.0014NA0.0020.0010.0028NANANANANANANANANANANANANANANANANANANANANANANANA-1.068828NANA0.0005810NANANA5.6620856
740890114089011GAexonicSDK1NAsynonymous SNVexonicENSG00000146555NAsynonymous SNVNANA7p22.2NANANANArs1396421980.0003993610.002NANANANA0.00210.0027NANANANANANANANANANANANANANANANANANANANANANANANA0.080055NANA0.0026740.000908NANANA5.6598926
74791712647917126TCexonicPKD1L1NAsynonymous SNVexonicENSG00000158683NAsynonymous SNVNANA7p12.3NANANANArs1398540350.002396170.005NA0.0101NANA0.00110.01NANANANANANANANANANANANANANANANANANANANANANANANA-0.22408NANA0.0008140.000227NANANA5.6597526
203181294931812949CTexonicBPIFA3NAsynonymous SNVexonicENSG00000131059NAsynonymous SNVNANA20q11.21NANANANArs1476322610.004792330.004NA0.00290.0136NA0.00190.02NANANANANANANANANANANANANANANANANANANANANANANANA-0.130387NANA0.0011630.012256NA0.007NA5.6596036
3195507993195507993GAexonicMUC4NAsynonymous SNVexonicENSG00000145113NAsynonymous SNVNANA3q29NANANANArs2011799490.001797120.006NA0.0029NA0.0010.0038NANANANANANANANANANANANANANANANANANANANANANANANANA-0.60326NANANANANANANA5.6568666
12130898844130898844GAexonicRIMBP2NAsynonymous SNVexonicENSG00000060709NAsynonymous SNVNANA12q24.33NANANANArs1177532380.002196490.005NA0.00430.0023NA0.00250.01NANANANANANANANANANANANANANANANANANANANANANANANA-1.252501NANA0.0023260.002043NANANA5.6568406
9136337164136337164CGexonicSLC2A6NAsynonymous SNVexonicENSG00000160326NAsynonymous SNVNANA9q34.2NANANANArs1420010280.0007987220.003NA0.0014NANA0.00250.0053NANANANANANANANANANANANANANANANANANANANANANANANA-1.425845NANA0.0053490.001135NANANA5.6558176
149677207596772075GAexonicATG2BNAsynonymous SNVexonicENSG00000066739NAsynonymous SNVNANA14q32.2NANANANArs1460286740.001996810.006NA0.0058NANA0.00220.01NANANANANANANANANANANANANANANANANANANANANANANANA-1.060957NANA0.0033720.001589NANANA5.6550946
92041429820414298AGexonicMLLT3NAsynonymous SNVexonicENSG00000171843NAsynonymous SNVNANA9p21.3NANANANArs1432549400.001397760.005NA0.00140.0008NA0.00270.004NANANANANANANANANANANANANANANANANANANANANANANANA-0.504768NANA0.0039540.001135ID=COSM1569325;OCCURENCE=1(large_intestine)NANA5.6550126
214766474647664746CTexonicMCM3APNAsynonymous SNVexonicENSG00000160294NAsynonymous SNVNANA21q22.3NANANANArs171832550.0009984030.005NANANANA0.00230.0045NANANANANANANANANANANANANANANANANANANANANANANANA0.475805NANA0.0045350.001362NANANA5.6548316
162099652520996525GAexonicDNAH3NAsynonymous SNVexonicENSG00000158486NAsynonymous SNVNANA16p12.3NANANANArs1395023850.001597440.005NA0.0029NA0.0010.00290.01NANANANANANANANANANANANANANANANANANANANANANANANA0.247373NANA0.0044190.001817ID=COSM434832,COSM434831;OCCURENCE=1(breast)NANA5.6543476
5133901934133901934CTexonicPHF15NAsynonymous SNVexonicENSG00000043143NAsynonymous SNVNANA5q31.1NANANANArs1481552460.0007987220.004NANANANA0.00460.01NANANANANANANANANANANANANANANANANANANANANANANANA-0.824129NANA0.0037210.000454NANANA5.6543456
1247835885247835885GCexonicOR13G1NAsynonymous SNVexonicENSG00000197437NAsynonymous SNVNANA1q44NANANANArs1502423760.0007987220.004NANANANA0.00360.0052NANANANANANANANANANANANANANANANANANANANANANANANA0.10829NANA0.0052330.000681NANANA5.6538336
53209308232093082GTexonicPDZD2NAsynonymous SNVexonicENSG00000133401NAsynonymous SNVNANA5p13.3NANANANArs1494477620.001996810.005NA0.00430.00080.0010.00370.01NANANANANANANANANANANANANANANANANANANANANANANANA-1.186449NANA0.0054650.001362NANANA5.6525016
154216716542167165TCexonicSPTBN5NAsynonymous SNVexonicENSG00000137877NAsynonymous SNVNANA15q15.1NANANANArs1119586200.002595850.004NA0.0043NA0.00610.00590.011NANANANANANANANANANANANANANANANANANANANANANANANA-1.231043NANA0.0058740.000493NA0.007NA5.6508926
77298518572985185GAexonicTBL2NAsynonymous SNVexonicENSG00000106638NAsynonymous SNVNANA7q11.23NANANANArs1464375320.002795530.005NA0.013NANA0.00470.02NANANANANANANANANANANANANANANANANANANANANANANANA-1.243823NANA0.0061640.001816NANANA5.6508026
195187573251875732GAexonicNKG7NAsynonymous SNVexonicENSG00000105374NAsynonymous SNVNANA19q13.41NANANANArs1476288820.002396170.008NA0.0043NA0.0010.00390.01NANANANANANANANANANANANANANANANANANANANANANANANA0.494658NANA0.0051160.001135NANANA5.6496506
213582184935821849CTexonicKCNE1NAsynonymous SNVexonicENSG00000180509NAsynonymous SNVNANA21q22.12NANANANArs171735100.003793930.0089NA0.0144NANA0.00360.01NANANANANANANANANANANANANANANANANANANANANANANANA0.155574NANA0.0055810.001362NA0.007NA5.6485856
84232338042323380CTexonicSLC20A2NAsynonymous SNVexonicENSG00000168575NAsynonymous SNVNANA8p11.21NANANANArs341249530.005191690.004NANANA0.02250.0070.0077NANANANANANANANANANANANANANANANANANANANANANANANA-0.033093NANA0.0076740.000227NANANA5.6479926
194343367643433676GCexonicPSG7NAnonsynonymous SNVexonicENSG00000221878NAunknownNANA19q13.31NANANANArs1465695650.004392970.0080.00790.0043NA0.00310.00590.01NANANANANANANANANANANANANANANANANANANANANANANANA-1.180333NANA0.0074440.00159NANANA5.6453227
11120929151120929151CGexonicTBCELNAsynonymous SNVexonicENSG00000154114NAsynonymous SNVNANA11q23.3NANANANArs353803710.009384980.008NA0.00720.02120.00610.00690.02NANANANANANANANANANANANANANANANANANANANANANANANA0.969775NANA0.008490.01793NA0.007NA5.6432766
1161641267161641267GAexonicFCGR2BNAsynonymous SNVexonicENSG00000072694NAsynonymous SNVNANA1q23.3NANANANArs1445731390.003793930.0139NA0.0014NA0.00410.00490.02NANANANANANANANANANANANANANANANANANANANANANANANA0.134527NANA0.0073260.000454NANANA5.6405406
184324380243243802GAexonicSLC14A2NAsynonymous SNVexonicENSG00000132874NAsynonymous SNVNANA18q12.3NANANANArs1432638780.007987220.0149NA0.01010.00080.01740.00940.011NANANANANANANANANANANANANANANANANANANANANANANANA-0.93294NANA0.0072090.002043NA0.007NA5.6351576
11128840872128840872GAexonicARHGAP32NAsynonymous SNVexonicENSG00000134909NAsynonymous SNVNANA11q24.3NANANANArs617488290.003993610.0179NANANA0.0020.00990.02NANANANANANANANANANANANANANANANANANANANANANANANA-0.179501NANA0.0098910.002726NANANA5.6289756
Chromosomal distribution