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$FOXJ2_02NANANANANANANANANANANANA0D1.0D0.999D0.000D1.000D2.235M-2.48D0.750D0.819D5.143326.112.9068.81017.6515.1429915.1429910NANANANANA22.3333334
147547265375472653AGexonicEIF2B2NAnonsynonymous SNVexonicENSG00000119718NAnonsynonymous SNVScore=626;Name=lod=466NA14q24.3Score=827;Name=V$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$GATA1_01NANANANANANANANANANANANA0.03D0.999D0.994D0.000D1.000D1.7L-4.98D1.099D0.947D4.84227.64.341.9546.43515.8364.842334.842330.01NANANANANA21.3333334
1924157752415775CAexonicTMPRSS9NAnonsynonymous SNVexonicENSG00000178297NAnonsynonymous SNVScore=343;Name=lod=33NA19p13.3NAName=CCNT2,Pol2(phosphoS2)Name=3NANANANANANANANA0.00004201NA0D0.993D0.936D0.000D1.000D3.42M0.12T0.164D0.457T3.38117.43.81.9765.66514.4153.380523.380520NANANANANA21.3332914
167205094272050942GAexonicDHODHNAnonsynonymous SNVexonicENSG00000102967NAnonsynonymous SNVScore=505;Name=lod=150NA16q22.2NANANANArs267606766NANANANANANA0.000099370.00010D1.0D1.0D0.000D1.000D4.64H-4.22D1.059D0.976D1.9312.415.822.7579.13519.0891.9298491.92984900.000120NANACLINSIG=pathogenic;CLNDBN=Miller_syndrome;CLNREVSTAT=single;CLNACC=RCV000018294.26;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=C0265257:263750:ORPHA246:6603800121.333114
13110855918110855918CGexonicCOL4A1NAnonsynonymous SNVexonicENSG00000187498NAnonsynonymous SNVScore=410;Name=lod=62NA13q34NAName=ZNF263NANArs1501827140.0001996810.001NANANANA0.000049420.00130.04D1.0D1.0D0.000D1.000D3.515H-4.63D1.032D0.985D2.26913.544.792.3765.19617.8162.2690082.2690080.090.0002330NANANA21.332051
117755359577553595GCexonicAAMDCNAnonsynonymous SNVexonicENSG00000087884NAnonsynonymous SNVScore=633;Name=lod=500NA11q14.1NAName=c-Jun,c-FosName=47NArs1383819670.0001996810.001NANANANA0.00020.00130.04D0.999D0.912D0.000D1.000D2.005M0.7T0.109D0.558D4.27622.34.672.9416.47714.8554.2763834.2763830.040.0004660.000227NANANA21.3316674
74733159447331594GAexonicTNS3NAnonsynonymous SNVexonicENSG00000136205NAnonsynonymous SNVScore=243;Name=lod=13NA7p12.3Score=728;Name=V$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
191739634417396344GAexonicANKLE1NAnonsynonymous SNVexonicENSG00000160117NAnonsynonymous SNVScore=548;Name=lod=225NA19p13.11Score=874;Name=V$TAL1ALPHAE47_01NANANArs776833480.01018370.01990.0060.0130.0030.01230.01750.0270D1.0D0.999D0.000D1.000D3.045M-3.52D0.550D0.801D4.28622.44.352.2528.50214.4174.2855664.28556600.0269770.004085NANANA21.2689564
9140777306140777306CGexonicCACNA1BNAnonsynonymous SNVexonicENSG00000148408NAnonsynonymous SNVScore=572;Name=lod=281NA9q34.3NAName=SUZ12,NRSFName=9NArs4422842NANANANANANA0.49990.490.02D1.0D0.999D0.000D1.000D4.925H-5.66D1.009D0.987D1.49110.93-4.66-0.938-1.17513.2151.4908931.4908930.03NANANA0.486NA20.8334334
1272808507280850CTexonicRBP5NAnonsynonymous SNVexonicENSG00000139194NAnonsynonymous SNVScore=391;Name=lod=52NA12p13.31NAName=GABP,TAF1,Pol2Name=7NANANANANANANANANANA0.01D0.999D0.981D0.000D1.000D2.29M1.49T-0.663T0.190T2.96215.873.552.2703.66416.4222.9619732.9619730.01NANANANANA20.3333334
204457920644579206CTexonicZNF335NAnonsynonymous SNVexonicENSG00000198026NAnonsynonymous SNVScore=644;Name=lod=551NA20q13.12NAName=Pol2Name=8NANANANANANANANA0.000008252NA0.01D1.0D0.998D0.000D1.000D2.475M2.31T-0.902T0.137T4.95328.84.822.6817.23917.4384.9528534.9528530NANANANANA20.3333251
63525909135259091GTexonicZNF76NAnonsynonymous SNVexonicENSG00000065029NAnonsynonymous SNVScore=637;Name=lod=517NA6p21.31Score=878;Name=V$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
123087897630878976GCexonicCAPRIN2NAnonsynonymous SNVexonicENSG00000110888NAnonsynonymous SNVScore=432;Name=lod=76NA12p11.21NAName=c-Jun,STAT3,GATA-2,c-Fos,eGFP-FOS,p300,JunD,CEBPB,p300_(N-15)Name=113NArs730799760.01118210.0109NA0.01730.00080.03270.00920.010.01D1.0D1.0D0.001D0.980D1.65L2.21T0.305D0.569D3.81619.384.721.3484.49315.9503.8163913.81639100.0087210.001135NA0.043NA20.3045124
2170129547170129547CTexonicLRP2NAnonsynonymous SNVexonicENSG00000081479NAnonsynonymous SNVScore=602;Name=lod=373NA2q31.1NANANANArs342919000.0149760.0368NA0.0130.00150.02760.02850.040.07T1.0D1.0D0.000D1.000D2.58M-2.33D0.205D0.520D4.93728.65.382.6817.72919.4964.9370224.93702200.0352330.005674NANACLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117514.2;CLNDSDB=.;CLNDSDBID=.20.2328004
1104117921104117921GAexonicAMY2BNAnonsynonymous SNVexonicENSG00000240038NAnonsynonymous SNVScore=637;Name=lod=516NA1p21.1Score=767;Name=V$HTF_01NANANArs1409789830.01737220.0457NA0.03890.00230.01120.0230.040D1.0D1.0D0.000D1.000D3.655H..0.440D0.592D4.70126.15.262.4626.71118.9394.7013394.70133900.0333880.006355NA0.022NA20.2312454
6111913262111913262CTexonicTRAF3IP2NAnonsynonymous SNVexonicENSG00000056972NAnonsynonymous SNVScore=493;Name=lod=135Name=Psoriatic arthritis,Psoriasis6q21Score=682;Name=V$P53_01NAName=70NArs339805000.08366610.08550.0040.11960.1430.05830.08250.140D1.0D1.0D0.000D0.000P2.045M0.66T-0.609T0.245T4.78526.95.52.5885.03817.5824.7852614.78526100.0774420.14049NA0.058CLINSIG=other;CLNDBN=Psoriasis_susceptibility_13;CLNREVSTAT=single;CLNACC=RCV000023605.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C3279754:61407020.0878914
172131920821319208CTexonicKCNJ12,KCNJ18NAnonsynonymous SNVexonicENSG00000184185NAnonsynonymous SNVScore=523;Name=lod=178NA17p11.2Score=798;Name=V$YY1_02NANANArs73979896NANANANANANA0.46430.110.02D0.984D0.435B0.000D1.000D2.34M-3.76D0.890D0.851D4.56824.85.322.4967.68018.9984.5681414.5681410.04NANANA0.101NA19.8690334
172131908721319087GAexonicKCNJ12,KCNJ18NAnonsynonymous SNVexonicENSG00000184185NAnonsynonymous SNVScore=598;Name=lod=358NA17p11.2NANANANArs750290970.000199681NA0.001NANANA0.49050.0870.01D1.0D1.0D0.000D1.000D4.135H-7.9D0.899D0.997D5.04729.95.232.4489.69018.7915.0470225.0470220.01NANANA0.087NA19.8428334
172131994321319943AGexonicKCNJ12,KCNJ18NAnonsynonymous SNVexonicENSG00000184185NAnonsynonymous SNVScore=500;Name=lod=144NA17p11.2Score=860;Name=V$P300_01NANANArs5021699NANANANANANA0.49720.30.04D1.0D0.999D0.023N1.000D2.175M-2.63D0.810D0.829D3.51617.965.412.0669.09115.4543.5156523.5156520.06NANANA0.304NA19.8361334
1160011512160011512GAexonicKCNJ10NAnonsynonymous SNVexonicENSG00000177807NAnonsynonymous SNVScore=651;Name=lod=591NA1q23.2NANANANArs11301830.01477640.0477NA0.0259NA0.00820.04570.0660.02D0.999D0.862P0.000D1.000D1.585L-2.94D0.651D0.775D3.54918.15.442.8372.91916.8113.548743.548740.050.0654650.012937NA0.087CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117320.2|RCV000126411.1;CLNDSDB=.|.;CLNDSDBID=.|.19.6744684
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=Pol2,CTCF_(C-20),CTCF,PU.1,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=GATA-2,c-FosName=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,TBP,EBF1_(C-8),CEBPB,Pol2Name=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
49676215896762158GCexonicPDHA2NAnonsynonymous SNVexonicENSG00000163114NAnonsynonymous SNVScore=488;Name=lod=128NA4q22.3NANANANArs1479662340.004792330.007NA0.0043NA0.01430.00910.0110D1.0D1.0D0.000D1.000D4.685H-6.13D0.850D0.988D3.38417.423.170.7853.3458.9063.3844933.38449300.0105810.000681NANANA19.3066524
675810327581032CTexonicDSPNAnonsynonymous SNVexonicENSG00000096696NAnonsynonymous SNVScore=304;Name=lod=23NA6p24.3NAName=FOXA1_(C-20),FOXA2_(SC-6554),FOXA1_(SC-101058)Name=9NArs287639670.003594250.0159NA0.00140.0008NA0.00910.0140.04D1.0D0.965D0.000D1.000D1.1L-0.87T-0.245T0.393T3.22416.85.852.7722.05115.8123.2242443.2242440.010.0143020.002951NA0.014CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038052.1;CLNDSDB=.;CLNDSDBID=.19.2940314
221856628818566288CGexonicPEX26NAnonsynonymous SNVexonicENSG00000215193NAnonsynonymous SNVScore=358;Name=lod=38NA22q11.21NANANANArs124846570.004392970.0119NA0.0144NANA0.010.0180.05D1.0D0.998D0.391U0.652N2.34M-3.2D0.569D0.801D3.52317.995.472.7242.40516.8563.5227883.5227880.030.0175580.003631NA0.072CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081925.1;CLNDSDB=.;CLNDSDBID=.19.2938754
1264583506458350AGexonicSCNN1ANAnonsynonymous SNVexonicENSG00000111319NAnonsynonymous SNVScore=358;Name=lod=38NA12p13.31NANANANArs57429120.01337860.0249NA0.02590.0030.02040.01820.030D1.0D1.0D0.000D1.000A3.305M-0.15T0.047D0.266T3.93420.15.191.9845.59411.5223.9335393.93353900.0237210.00522NA0.007CLINSIG=pathogenic;CLNDBN=Bronchiectasis_with_or_without_elevated_sweat_chloride_2;CLNREVSTAT=single;CLNACC=RCV000009851.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C2751666:61302119.2665124
14322348943223489CTexonicLEPRE1NAnonsynonymous SNVexonicENSG00000117385NAnonsynonymous SNVScore=437;Name=lod=80NA1p34.2NANAName=7NArs67006770.05491210.03880.0010.03890.1120.06130.04480.110D1.0D1.0D0.000D1.000D2.89M-1.66D-0.536T0.067T4.366235.842.7697.48717.6434.3657184.36571800.0434880.108488ID=COSM1342736,COSM1342737;OCCURENCE=2(large_intestine)0.058NA19.2062454
223547852935478529GAexonicISXNAnonsynonymous SNVexonicENSG00000175329NAnonsynonymous SNVScore=366;Name=lod=41NA22q12.3NANANANArs81402870.03075080.05570.0030.03170.00230.07160.0430.060.16T1.0D0.999D0.000D1.000D3.47M-4.29D0.107D0.743D4.91628.44.942.5458.75815.6834.9161814.91618100.0537210.011575NA0.022NA19.1809124
58991492589914925TGexonicGPR98NAnonsynonymous SNVexonicENSG00000164199NAnonsynonymous SNVScore=630;Name=lod=485NA5q14.3Score=846;Name=V$IRF1_01NANANArs413113330.01637380.0497NA0.0346NA0.00820.06180.050D0.999D0.972D0.000D1.000D1.935M1.35T-0.952T0.044T3.93520.15.432.0637.49215.4903.9353633.93536300.0458680.006656NA0.022CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000039577.1|RCV000125292.1;CLNDSDB=.|.;CLNDSDBID=.|.19.1759654
174521460545214605TCexonicCDC27NAnonsynonymous SNVexonicENSG00000004897NAnonsynonymous SNVScore=658;Name=lod=631NA17q21.32Score=721;Name=V$SRF_01Name=CTCF,TAF7_(SQ-8),IRF3,c-Fos,YY1,GATA-2,ZZZ3,CTCFL_(SC-98982),GCN5,c-Jun,GABP,ZBTB33,STAT1,SUZ12,TAF1,EBF,ZNF274Name=148NArs76926116NANANANANANA0.49870.0220D0.848P0.513P0.000D1.000D3.425M0.32T-0.114T0.354T4.75226.65.812.2286.30814.1084.7522694.7522690NANANA0.029NA18.8346334
172131912121319121CTexonicKCNJ12,KCNJ18NAnonsynonymous SNVexonicENSG00000184185NAnonsynonymous SNVScore=455;Name=lod=94NA17p11.2Score=894;Name=V$USF_Q6NANANArs1714864NANANANANANA0.49970.50.01D1.0D1.0D0.000D1.000D2.795M-3.43D-1.369T0.000T4.63825.45.322.4967.68018.9984.6377634.6377630.01NANANA0.341NA18.8336334
48236928482369284TGexonicRASGEF1BNAnonsynonymous SNVexonicENSG00000138670NAnonsynonymous SNVScore=558;Name=lod=248NA4q21.21NAName=FOSL1_(SC-183)Name=7NANANANANANANANA0.00006589NA0.06T0.972D0.844P0.000D1.000D2.085M1.58T-0.886T0.156T4.64425.55.312.2435.82015.1004.6436584.6436580.01NANANANANA18.8332675
3154886383154886383AGexonicMMENAnonsynonymous SNVexonicENSG00000196549NAnonsynonymous SNVScore=496;Name=lod=138NA3q25.2Score=862;Name=V$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
2241808314241808314CTexonicAGXTNAnonsynonymous SNVexonicENSG00000172482NAnonsynonymous SNVScore=251;Name=lod=14NA2q37.3NAName=HDAC2_(SC-6296),HEY1NANArs341165840.08087060.2048NA0.13110.03630.06130.15450.210.02D1.0D1.0D0.000D0.000P2.43M-2.36D-1.138T0.003T2.73715.114.422.0146.30211.6352.7368162.7368160.060.2034190.061164NA0.094CLINSIG=other;CLNDBN=Primary_hyperoxaluriax2c_type_I;CLNREVSTAT=mult;CLNACC=RCV000005995.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT;CLNDSDBID=NBK1283:C0268164:259900:ORPHA416:ORPHA93598:6552000118.7706144
154569544545695445CGexonicSPATA5L1NAnonsynonymous SNVexonicENSG00000171763NAnonsynonymous SNVNANA15q21.1NAName=TAF1,HA-E2F1,CCNT2Name=114NArs1434530380.009984030.0298NA0.02020.00230.00310.04870.030D0.974D0.812P0.015N1.000N2.09M-3.22D0.109D0.662D3.99920.54.92.5367.24716.8263.9992823.9992820.010.0206710.005012NA0.043NA18.7341624
17839244678392446GAexonicNEXNNAnonsynonymous SNVexonicENSG00000162614NAnonsynonymous SNVScore=558;Name=lod=247NA1p31.1Score=933;Name=V$STAT_01Name=PU.1,MEF2AName=20NArs11666980.1507590.21070.380.11670.01060.06650.18460.410.31T1.0D1.0D0.000D0.000P2.63M-0.06T-0.291T0.460T4.44223.75.642.6438.91519.6944.4424994.4424990.020.2073110.046582NA0.152CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000041182.1|RCV000127191.1;CLNDSDB=.|.;CLNDSDBID=.|.18.7307224
76645347666453476AGexonicSBDSNAnonsynonymous SNVexonicENSG00000126524NAnonsynonymous SNVScore=363;Name=lod=40NA7q11.21NANANANArs793448180.01697280.0457NA0.0360.00450.00820.02480.040.01D0.154B0.599P0.000D1.000D2.805M-4.1D0.405D0.718D3.525182.650.3946.4875.3173.5245183.5245180.050.0388370.006582NA0.014CLINSIG=non-pathogenic;CLNDBN=Shwachman_syndrome;CLNREVSTAT=single;CLNACC=RCV000020733.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1756:C0272170:260400:ORPHA811:8945400118.7239964
194618139246181392GCexonicGIPRNAnonsynonymous SNVexonicENSG00000010310NAnonsynonymous SNVScore=578;Name=lod=297Name=Obesity19q13.32Score=874;Name=V$NMYC_01Name=CTCF,c-Myc,CTCF_(SC-5916)Name=21NArs18004370.1611420.21370.20730.12680.12330.1350.20190.220.07T1.0D0.999D0.000D0.021P2.545M0.9T-1.097T0.000T4.46823.93.140.9543.26511.0624.467824.467820.010.2034880.113482NA0.167NA18.7142454
206145133261451332CTexonicCOL9A3NAnonsynonymous SNVexonicENSG00000092758NAnonsynonymous SNVScore=457;Name=lod=96NA20q13.33Score=795;Name=V$OLF1_01NANANArs617346510.02196490.0636NA0.02740.00380.02250.04790.070.02D0.997D0.761P0.052U0.816D2.92M-1.78D0.001D0.323T2.99315.983.592.1060.8358.3332.9926112.9926110.010.0672090.014526NA0.058CLINSIG=other;CLNDBN=Intervertebral_disc_diseasex2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000018677.1;CLNDSDB=.;CLNDSDBID=.18.6546244
125291366852913668CTexonicKRT5NAnonsynonymous SNVexonicENSG00000186081NAnonsynonymous SNVScore=451;Name=lod=91NA12q13.13NAName=Pol2NANArs111701640.02655750.0676NA0.01730.00450.04810.05820.0740.01D0.959D0.503P0.000D0.999D3.09M-1.02T0.002D0.391T3.25516.925.452.559.19.2863.255263.255260.010.0743020.016114NA0.007CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000056586.1;CLNDSDB=.;CLNDSDBID=.18.6332314
8101718965101718965GAexonicPABPC1NAnonsynonymous SNVexonicENSG00000070756NAnonsynonymous SNVScore=624;Name=lod=459NA8q22.3NAName=CTCF_(SC-5916)Name=2NArs62513921NANANANANANA0.4118NA0.03D0.97D0.711P0.000D1.000D2.095M0.89T-0.833T0.164T2.96715.894.521.4276.0139.4892.9666362.9666360NANANANANA18.4215334
174521452745214527TCexonicCDC27NAnonsynonymous SNVexonicENSG00000004897NAnonsynonymous SNVScore=658;Name=lod=631NA17q21.32NAName=SUZ12,TAF1,EBF,ZNF274,IRF3,YY1,GATA-2,ZZZ3,c-Fos,c-Jun,CTCFL_(SC-98982)Name=148NArs62075618NANANANANANA0.47630.0870D0.985D0.79P0.000D0.000P3.91H0.26T0.329D0.469T5.00429.45.982.2936.30814.4095.0044635.0044630NANANA0.087NA18.3570334
93771138237711382GCexonicFRMPD1NAnonsynonymous SNVexonicENSG00000070601NAnonsynonymous SNVScore=472;Name=lod=111NA9p13.2NANANANANANANANANANANANANA0D1.0D0.984D0.000D1.000D2.53M0.63T-0.384T0.311T4.13521.35.312.4865.33114.4824.1351374.1351370NANANANANA18.3333334
114589197745891977TGexonicCRY2NAnonsynonymous SNVexonicENSG00000121671NAnonsynonymous SNVScore=538;Name=lod=204NA11p11.2Score=764;Name=V$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
2103334983103334983GCexonicMFSD9NAnonsynonymous SNVexonicENSG00000135953NAnonsynonymous SNVScore=346;Name=lod=34NA2q12.1Score=779;Name=V$PAX5_01NANANArs349775050.02176520.001NA0.00580.0787NA0.00590.070.05D1.0D0.999D0.000D1.000D2.215M-1.24T-0.444T0.119T4.29122.44.61.4629.20314.5754.2909964.2909960.120.0010470.057195NA0.022NA18.3253864
171035472710354727TGexonicMYH4NAnonsynonymous SNVexonicENSG00000264424NAnonsynonymous SNVScore=401;Name=lod=57NA17p13.1NANANANArs346105030.002396170.002NA0.0029NA0.00820.00320.00330.01D0.849P0.649P0.001U0.979D2.865M-1.65D0.444D0.646D4.17221.65.622.2632.04311.2454.172484.17248NA0.0032560.000681NANANA18.3248774
125801866858018668TGexonicSLC26A10NAnonsynonymous SNVexonicENSG00000135502NAnonsynonymous SNVScore=340;Name=lod=32NA12q13.3NANANANArs1119241040.003594250.003NA0.00580.00530.00410.00540.010.03D0.997D0.952D..1.000D1.735L-2.4D0.394D0.697D2.24613.473.652.0294.4227.2612.2463572.2463570.020.006860.004085NANANA18.3180734
168998609189986091GAexonicMC1RNAnonsynonymous SNVexonicENSG00000198211,ENSG00000258839NAnonsynonymous SNVScore=538;Name=lod=204NA16q24.3NANANANArs115474640.002795530.0089NA0.00580.0008NA0.0050.01..1.0D1.0D0.001U1.000D4.11H-4.27D0.907D0.957D5.507354.812.2346.45316.8525.5074125.50741200.0074420.000682NANANA18.3119914
2179643775179643775CTexonicTTNNAnonsynonymous SNVexonicENSG00000155657NAnonsynonymous SNVScore=638;Name=lod=524NA2q31.2Score=855;Name=V$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
63159852331598523CTexonicPRRC2ANAnonsynonymous SNVexonicENSG00000204469NAnonsynonymous SNVScore=355;Name=lod=37NA6p21.33NAName=Pol2(b),Pol2-4H8Name=4NArs115382620.006389780.01590.0030.00580.00150.00720.00760.0110D1.0D0.996D0.000D1.000D0.975L3.15T-1.105T0.026T1.6411.444.21.3591.91611.8511.6399681.63996800.0110470.00227NA0.007NA18.2987864
1977080587708058CTexonicSTXBP2NAnonsynonymous SNVexonicENSG00000076944NAnonsynonymous SNVScore=259;Name=lod=15NA19p13.2Score=904;Name=V$AREB6_01NANANArs1177618370.004592650.0139NA0.00720.00150.0020.01090.020.02D1.0D0.992D0.000D1.000D2.045M-0.99T-0.144T0.353T2.64214.84.312.5137.66112.1702.6423462.6423460.020.0161630.003404NA0.007NA18.2923704
16390252463902524CGexonicALG6NAnonsynonymous SNVexonicENSG00000088035NAnonsynonymous SNVScore=407;Name=lod=60NA1p31.3NANANANArs412853720.004193290.0159NA0.00430.00080.0010.01210.0180.12T1.0D0.998D0.000D1.000D2.25M-1.76D0.120D0.585D3.12516.453.190.6472.01011.1043.1254063.12540600.0176740.005447NANANA18.2876594
22013025920130259GAexonicWDR35NAnonsynonymous SNVexonicENSG00000118965NAnonsynonymous SNVScore=284;Name=lod=19NA2p24.1NANANANArs563952660.005191690.0209NA0.00580.0008NA0.010.0220.01D1.0D0.931D0.000D1.000D2.445M-0.21T0.075D0.412T2.56514.545.522.5965.61918.4112.5645512.5645510.010.0184880.004312NA0.014NA18.2839454
2178545566178545566CTexonicPDE11ANAnonsynonymous SNVexonicENSG00000128655NAnonsynonymous SNVScore=606;Name=lod=388NA2q31.2NANANANArs751272790.01317890.02490.0010.0101NA0.03370.02020.030D0.995D0.918D0.000D1.000D2.205M-1.65D-0.582T0.198T4.42523.55.772.8844.61320.3474.4254474.42544700.0221030.004316NA0.007NA18.2661304
45724871657248716GCexonicAASDHNAnonsynonymous SNVexonicENSG00000157426NAnonsynonymous SNVScore=278;Name=lod=18NA4q12Score=855;Name=V$HAND1E47_01Name=MafK_(ab50322)NANArs342287950.06469650.01790.19050.02310.01290.08280.0430.210.02D0.995D0.962D0.000D0.000P3.24M0.8T-1.042T0.001T2.39913.985.031.4684.19412.1112.399342.399340.070.0208140.013164NA0.058NA18.2516194
13114088074114088074GAexonicADPRHL1NAnonsynonymous SNVexonicENSG00000153531NAnonsynonymous SNVScore=557;Name=lod=244NA13q34Score=952;Name=V$TCF11_01NANANArs1390756280.0137780.0368NA0.01440.00080.02150.03580.040D0.998D0.913D0.000D1.000D3.005M-0.69T-0.081T0.251T4.83227.44.662.1678.54417.2184.832494.832490.010.0247960.005239NA0.007NA18.2359374
83261197032611970GTexonicNRG1NAnonsynonymous SNVexonicENSG00000157168NAnonsynonymous SNVScore=604;Name=lod=379NA8p12Score=1000;Name=V$AML1_01NANANArs749420160.0143770.0467NA0.02590.00080.00610.0290.0470.01D0.998D0.997D0.000D1.000D2.25M2.63T-0.560T0.114T5.559355.622.6399.86919.6575.5588675.5588670.010.0470930.010667NA0.022NA18.2105404
161402903314029033GAexonicERCC4NAnonsynonymous SNVexonicENSG00000175595NAnonsynonymous SNVScore=489;Name=lod=129NA16p13.12Score=710;Name=V$P53_01NANANArs18000670.02855430.0865NA0.03890.00380.02450.05570.0760.01D1.0D0.98D0.000D1.000D2.44M-0.02T-0.679T0.052T5.806365.772.7269.47618.9895.8061235.80612300.0765120.012289NA0.087NA18.1146214
X135956506135956506CGexonicRBMXNAnonsynonymous SNVexonicENSG00000147274NAnonsynonymous SNVScore=861;Name=lod=4226NAXq26.3Score=807;Name=V$PAX3_01Name=Pol2-4H8NANArs77794331NANANANANANA0.2280.0220.06T0.996D0.969D0.000U1.000D1.845L-1.18T0.185D0.586D3.28817.045.42.3807.71718.4313.2875833.2875830.05NANANA0.022NA18.1053334
126417380764173807GAexonicTMEM5NAnonsynonymous SNVexonicENSG00000118600NAnonsynonymous SNVScore=462;Name=lod=101NA12q14.2NAName=NFKB,YY1_(C-20),TAF1,Pol2(b),Egr-1,STAT1,GABP,TBP,IRF1,ELF1_(SC-631),YY1,Pol2,c-Myc,CCNT2,HA-E2F1,HMGN3Name=146NArs619359240.05231630.10440.01290.05620.01660.08490.08980.1..1.0D0.997D0.000D1.000D1.555L1.47T-1.203T0.004T4.5424.52.51.0094.3636.7544.5400864.5400860.150.1050.02837NANACLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118638.1;CLNDSDB=.;CLNDSDBID=.18.0341334
6123122464123122464CTexonicSMPDL3ANAnonsynonymous SNVexonicENSG00000172594NAnonsynonymous SNVScore=414;Name=lod=64NA6q22.31NANAName=13NArs283856090.1006390.13720.02480.07490.05070.2270.13490.150.2T1.0D1.0D0.000D0.000P1.685L-1.84D0.187D0.676D3.25516.925.722.8576.51420.2413.2552433.25524300.1456980.046074NA0.08NA17.9155354
2211060050211060050TGexonicACADLNAnonsynonymous SNVexonicENSG00000115361NAnonsynonymous SNVScore=519;Name=lod=171Name=Metabolite levels2q34Score=793;Name=V$OCT1_01NAName=28NArs22869630.2110620.31310.18650.22480.08930.28630.30110.340.26T0.978D0.841P0.000D0.000P1.785L-3.95D-1.577T0.000T3.57618.225.772.2136.84216.1483.5764733.5764730.10.3413950.150023NA0.261CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000115027.1;CLNDSDB=.;CLNDSDBID=.17.8777384
222457915724579157GTexonicSUSD2NAnonsynonymous SNVexonicENSG00000099994NAnonsynonymous SNVScore=393;Name=lod=53NA22q11.23NANANANArs79232038NANANANANANA0.4683NA0.31T1.0D0.999D0.000D1.000D2.33M-1.28T0.119D0.617D3.94220.23.332.2083.23713.1233.9420953.9420950NANAID=COSM1180264;OCCURENCE=1(prostate)NANA17.8650334
172120419221204192CTexonicMAP2K3NAnonsynonymous SNVexonicENSG00000034152NAnonsynonymous SNVScore=461;Name=lod=100NA17p11.2Score=801;Name=V$ER_Q6NANANArs56216806NANANANANANA0.49980.50.01D1.0D0.994D0.000D1.000D2.375M-0.23T-0.944T0.000T2.69814.985.082.3592.45813.4512.6984432.6984430NANANA0.5NA17.8335334
114834706748347067CTexonicOR4C3NAnonsynonymous SNVexonicENSG00000176547NAnonsynonymous SNVScore=381;Name=lod=47NA11p11.2Score=743;Name=V$SRF_01NANANArs73464001NANANANANANA0.50.50D1.0D0.998D0.000D0.997D2.51M8.65T-0.533T0.000T3.6818.75.782.7822.48117.6803.6799213.6799210.01NANANA0.377NA17.8333334
147541607375416073TCexonicPGFNAnonsynonymous SNVexonicENSG00000119630NAnonsynonymous SNVScore=483;Name=lod=123NA14q24.3NANANANANANANANANANANA0.00001789NA0D0.999D0.888P0.000D0.976D1.965M..-0.440T0.292T3.61618.44.161.7534.21010.1893.6159253.6159250NANANANANA17.8333155
9109692959109692959GCexonicZNF462NAnonsynonymous SNVexonicENSG00000148143NAnonsynonymous SNVScore=419;Name=lod=67NA9q31.2Score=758;Name=V$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
109509361995093619GAexonicMYOFNAnonsynonymous SNVexonicENSG00000138119NAnonsynonymous SNVScore=543;Name=lod=214NA10q23.33Score=760;Name=V$LUN1_01Name=STAT3,JunDName=23NArs618612900.00619010.0189NA0.01440.00080.0010.01090.020.12T0.973D0.749P0.000D1.000D1.67L1.1T-0.954T0.103T4.79727.15.232.7219.26318.9994.7974674.7974670.020.0168450.003406NA0.007NA17.7866884
1150940625150940625TGexonicCERS2NAnonsynonymous SNVexonicENSG00000143418NAnonsynonymous SNVScore=636;Name=lod=511Name=Rhegmatogenous retinal detachment1q21.3NANANANArs2677380.06809110.19090.02580.09510.00610.05010.14690.210.28T0.863P0.756P0.000D0.000P2.565M-3.89D0.822D0.867D5.158324.92.0587.46014.3745.1582325.1582320.010.2117440.039946ID=COSM1333906;OCCURENCE=1(large_intestine)0.058NA17.7837894
8145006992145006992CTexonicPLECNAnonsynonymous SNVexonicENSG00000178209NAnonsynonymous SNVScore=587;Name=lod=325NA8q24.3NANANANArs31351030.006589460.02580.0010.0058NA0.0020.0150.020.12T0.993D0.494P0.029U1.000D1.01L-3.06D0.174D0.506D3.25216.915.122.3904.32917.3223.2521363.2521360.060.0195330.005024NA0.007CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117956.2;CLNDSDB=.;CLNDSDBID=.17.7730004
157908312079083120GAexonicADAMTS7NAnonsynonymous SNVexonicENSG00000136378NAnonsynonymous SNVScore=467;Name=lod=105NA15q25.1Score=733;Name=V$PAX4_04NANANArs2127898NANANANANANA0.32150.30.01D1.0D0.98D0.000D0.031P2.645M-2.36D-1.272T0.000T3.08416.32.851.0604.6337.9583.0844073.08440700.2618220.286885NA0.261NA17.7500114
195466204354662043CTexonicLENG1NAnonsynonymous SNVexonicENSG00000105617NAnonsynonymous SNVScore=440;Name=lod=82NA19q13.42Score=780;Name=V$MEF2_02NANANArs350898610.01737220.06160.0010.02450.00230.00410.03790.060.04D0.975D0.632P0.000D1.000D3.405M0.57T-0.548T0.063T5.073315.142.5783.34117.8255.0725315.07253100.054070.006809NA0.029NA17.6797634
91545982115459821ACexonicSNAPC3NAnonsynonymous SNVexonicENSG00000164975NAnonsynonymous SNVScore=689;Name=lod=840NA9p22.3Score=965;Name=V$CREL_01NANANArs30876530.03853830.0596NA0.02310.04160.06340.04510.0760.05D0.98D0.721P0.000D1.000D2.005M0.93T-0.994T0.042T5.082315.862.3677.28316.5605.0815535.0815530.050.0494190.03291NA0.051NA17.6792144
118901796189017961GAexonicTYRNAnonsynonymous SNVexonicENSG00000077498NAnonsynonymous SNVScore=505;Name=lod=150Name=Tanning,Sunburns11q14.3NANANANArs11268090.081270.25250.0010.12540.00910.05420.1770.28..0.999D0.994D0.000D0.000P2.025M-4.81D-1.761T0.001T5.01429.54.682.1667.49917.6255.0137265.0137260.020.2812280.050659NA0.188CLINSIG=other|pathogenic|other|other|other|pathogenic|untested;CLNDBN=Oculocutaneous_albinism_type_1B|Oca1-ts|Cutaneous_malignant_melanoma_8|Skin/hair/eye_pigmentationx2c_variation_inx2c_3|Skin/hair/eye_pigmentation_3x2c_blue/green_eyes|WAARDENBURG_SYNDROME_2_AND_OCULAR_ALBINISMx2c_DIGENIC|not_provided;CLNREVSTAT=mult|single|single|single|single|single|not;CLNACC=RCV000003978.5|RCV000003979.3|RCV000003980.3|RCV000003981.4|RCV000003982.4|RCV000023596.3|RCV000085910.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:Orphanet|.|MedGen:OMIM:Orphanet|MedGen:OMIM|.|.|.;CLNDSDBID=NBK1166:C1847024:606952:ORPHA352731:ORPHA352737:ORPHA79434|.|C3152204:614456:ORPHA293822|C2677190:601800|.|.|.17.6226054
8101719121101719121GAexonicPABPC1NAnonsynonymous SNVexonicENSG00000070756NAnonsynonymous SNVScore=494;Name=lod=136NA8q22.3Score=833;Name=V$FREAC4_01NAName=2NArs79986761NANANANANANA0.2769NA0.03D0.87P0.368B0.000D1.000D2.345M2.54T-0.696T0.189T3.49317.865.632.8168.99120.0343.4928583.4928580NANANANANA17.5564334
107355895273558952CTexonicCDH23NAnonsynonymous SNVexonicENSG00000107736NAnonsynonymous SNVScore=387;Name=lod=50NA10q22.1Score=990;Name=V$MZF1_01NANANArs47471950.3282750.27440.52980.34730.24430.27610.29970.520.03D1.0D0.981D0.000D0.000P2.605M5.69T-0.845T0.000T4.30522.55.552.6237.78619.5164.3047584.30475800.2612410.24006ID=COSM146955;OCCURENCE=1(stomach)0.326CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000039264.1|RCV000124204.1;CLNDSDB=.|.;CLNDSDBID=.|.17.4979924
2152476028152476028CGexonicNEBNAnonsynonymous SNVexonicENSG00000183091NAnonsynonymous SNVScore=457;Name=lod=96NA2q23.3NAName=HA-E2F1,CTCF,JunD,eGFP-JunD,NRSF,c-Fos,GATA-2,c-JunName=67NArs101720230.2198480.30620.2440.24780.13160.20550.28910.330.07T1.0D0.995D0.000D0.000P2.885M1.46T-1.099T0.000T2.38713.945.612.7931.49416.2702.3874162.3874160.030.3314290.138985NA0.167CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081108.3;CLNDSDB=.;CLNDSDBID=.17.4066044
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
167205511072055110GCexonicDHODHNAnonsynonymous SNVexonicENSG00000102967NAnonsynonymous SNVScore=449;Name=lod=89NA16q22.2NAName=CTCF,GABP,Rad21Name=4NArs267606767NANANANANANANANA0.46T0.158B0.12B0.000D1.000D0.255N-2.08D-0.390T0.436T2.11113.015.232.5969.69719.1932.1108022.1108020.16NANANANACLINSIG=pathogenic;CLNDBN=Miller_syndrome,Miller_syndrome;CLNREVSTAT=single,single;CLNACC=RCV000018296.26,RCV000018295.26;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT,MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=C0265257:263750:ORPHA246:66038001,C0265257:263750:ORPHA246:6603800117.3333334
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
118891169688911696CAexonicTYRNAnonsynonymous SNVexonicENSG00000077498NAnonsynonymous SNVNAName=Freckles,Skin pigmentation11q14.3Score=929;Name=V$ZIC3_01NANANArs10426020.1234030.37180.0010.23780.01210.06340.25180.38..0.997D0.974D0.000D1.000P2.135M-5.1D-1.784T0.000T3.276176.072.8854.43615.3853.275963.275960.070.3767160.075647ID=COSM430000;OCCURENCE=1(breast)0.232CLINSIG=other|non-pathogenic|untested;CLNDBN=Skin/hair/eye_pigmentationx2c_variation_inx2c_3|Oculocutaneous_albinism_type_1A|not_provided;CLNREVSTAT=single|single|not;CLNACC=RCV000003977.4|RCV000055807.1|RCV000085955.1;CLNDSDB=MedGen:OMIM|GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT|.;CLNDSDBID=C2677190:601800|NBK1166:C0268494:203100:ORPHA352731:ORPHA79431:6483008|.17.3330174
1161681057161681057CTexonicFCRLANAnonsynonymous SNVexonicENSG00000132185NAnonsynonymous SNVScore=295;Name=lod=21NA1q23.3Score=798;Name=V$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
79276372092763720GAexonicSAMD9LNAnonsynonymous SNVexonicENSG00000177409NAnonsynonymous SNVScore=415;Name=lod=65NA7q21.2NANANANArs1513045010.006988820.0139NA0.01870.00150.00610.01430.0220.01D0.996D0.929D0.000D0.974D1.955M2.28T-1.047T0.055T3.60618.364.592.3841.27617.1613.6064543.6064540.010.0220930.004766NA0.007NA17.2830404
161404207714042077AGexonicERCC4NAnonsynonymous SNVexonicENSG00000175595NAnonsynonymous SNVScore=289;Name=lod=20NA16p13.12NANANANArs18001240.005790730.0199NA0.00430.00080.00510.01310.020D0.937P0.585P0.000D1.000D2.715M2.44T-1.045T0.050T4.589256.162.3678.71115.9874.5889154.58891500.0174420.004324NA0.007CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116989.3;CLNDSDB=.;CLNDSDBID=.17.2828914
1689069148906914ACexonicPMM2NAnonsynonymous SNVexonicENSG00000140650NAnonsynonymous SNVScore=295;Name=lod=21NA16p13.2NANANANArs342582850.008985620.0249NA0.02160.00150.00310.01930.030.47T0.018B0.024B0.000D1.000D1.645L-4.95D0.363D0.691D1.1899.8354.891.8392.48910.2621.189414NA0.110.0254650.004779NANACLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078593.1;CLNDSDB=.;CLNDSDBID=.17.2636684
125120812251208122CGexonicATF1NAnonsynonymous SNVexonicENSG00000123268NAnonsynonymous SNVScore=487;Name=lod=127NA12q13.12NANANANArs22306740.00918530.0258NA0.0187NA0.00720.0250.0310.03D0.999D0.994D0.000D1.000D2.175M0.21T-0.359T0.214T2.7715.224.792.3754.46318.2112.7701762.7701760.030.0308140.006355NA0.007NA17.2517194
X28358632835863GTexonicARSDNAnonsynonymous SNVexonicENSG00000006756NAnonsynonymous SNVScore=329;Name=lod=29NAXp22.33NANANANArs78034736NANANANANANA0.10170.120D1.0D0.993D0.001U0.000P4.72H-3.86D-0.813T0.163T2.8915.633.361.3386.14814.3202.8895172.8895170NANAID=COSM1319458;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)NACLINSIG=other;CLNDBN=Malignant_melanoma;CLNREVSTAT=not;CLNACC=RCV000073163.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:209200317.2316334
19447384694473846GAexonicABCA4NAnonsynonymous SNVexonicENSG00000198691NAnonsynonymous SNVScore=389;Name=lod=51NA1p22.1NANANANArs561421410.01657350.04670.0010.03460.00530.00410.03060.0370.05D0.01B0.009B0.566N1.000D1.19L-4.04D0.044D0.764D2.78715.285.352.9412.65419.6142.7873962.7873960.10.0374420.009759NANACLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000085768.2;CLNDSDB=.;CLNDSDBID=.17.2185914
10101829514101829514CTexonicCPN1NAnonsynonymous SNVexonicENSG00000120054NAnonsynonymous SNVScore=552;Name=lod=233NA10q24.2Score=826;Name=V$CMYB_01NANANArs617515070.02655750.04370.02480.06340.00230.01740.04180.060.2T0.863P0.764P0.000D1.000D2.075M2.58T-1.190T0.010T2.17613.234.251.3166.04516.1752.1757452.1757450.020.0480230.010894NA0.022CLINSIG=pathogenic;CLNDBN=Anaphylotoxin_inactivator_deficiency;CLNREVSTAT=single;CLNACC=RCV000007002.1;CLNDSDB=MedGen:OMIM:SNOMED_CT:SNOMED_CT;CLNDSDBID=C0398782:212070:124493003:23462700917.1998104
13839742338397423CGintronicINPP5BNANAexonicENSG00000204084NAnonsynonymous SNVScore=403;Name=lod=58NA1p34.3Score=881;Name=V$AP2_Q6Name=Egr-1,Pol2(phosphoS2),E2F6_(H-50),SP2_(SC-643),YY1,HA-E2F1,USF-1,CCNT2,IRF3,HMGN3,CHD2_(N-1250),ETS1,GABP,USF1_(SC-8983),Pol2,TAF1,Pol2-4H8,YY1_(C-20),ELF1_(SC-631)Name=148NArs1995512690.0005990420.002NA0.0014NANA0.007NA0D0.992D0.938D0.081N1.000D..-0.42T0.116D0.865D1.8812.252.970.7140.20710.1431.8802721.8802720NANANANANA17.1576667
6100957344100957344TCexonicASCC3NAnonsynonymous SNVexonicENSG00000112249NAnonsynonymous SNVScore=620;Name=lod=442Name=Economic and political preferences (immigration/crime)6q16.3Score=862;Name=V$OCT1_06Name=ERalpha_aName=7NArs2407680.1363820.05170.16070.11380.230.08790.0820.20.04D0.538P0.591P0.008N0.000P1.845L0.2T-0.741T0.172T2.63414.774.841.0573.71311.2332.6343042.6343040.140.0462790.195188NA0.159NA17.1533544
57079854170798541AGexonicBDP1NAnonsynonymous SNVexonicENSG00000145734NAnonsynonymous SNVScore=393;Name=lod=53NA5q13.2NANANANArs360092810.03254790.0885NA0.04320.0030.04090.05610.0840.02D0.998D0.994D0.000D1.000D1.995M2.7T-1.233T0.006T2.98115.944.72.1091.18510.7292.980562.9805600.0834560.015046NA0.029NA17.1052774
X135956467135956467CTexonicRBMXNAnonsynonymous SNVexonicENSG00000147274NAnonsynonymous SNVScore=861;Name=lod=4226NAXq26.3Score=1000;Name=V$NKX25_01Name=Pol2-4H8NANArs35899675NANANANANANA0.23320.0430.13T0.981D0.954D0.000U0.000P1.355L-1.08T0.014D0.537D2.52414.45.42.3804.93318.4312.5238172.5238170.28NANAID=COSM292203;OCCURENCE=1(liver),1(large_intestine)0.058NA17.1001334
63202439532024395CTexonicTNXBNAnonsynonymous SNVexonicENSG00000168477NAnonsynonymous SNVScore=304;Name=lod=23NA6p21.33Score=776;Name=V$HEN1_01NANANArs109472300.1054310.09340.08230.07490.2020.03270.07850.210.03D1.0D0.998D0.000D0.000P3.595H3.51T-0.946T0.064T2.86515.544.612.0992.36114.4092.8647932.86479300.0619820.157831NA0.087NA17.0994514
X135956408135956408AGexonicRBMXNAnonsynonymous SNVexonicENSG00000147274NAnonsynonymous SNVScore=861;Name=lod=4226NAXq26.3Score=895;Name=V$SPZ1_01Name=USF-1,Pol2-4H8NANArs76876438NANANANANANA0.24330.0220.08T0.995D0.969D0.000U0.000P1.7L-1.1T0.188D0.557D1.93812.445.661.9009.18414.8981.9378721.9378720.04NANANA0.036NA17.0900334
222988501629885016GAexonicNEFHNAnonsynonymous SNVexonicENSG00000100285NAnonsynonymous SNVScore=517;Name=lod=169NA22q12.2NANANANArs593710990.0293530.0855NA0.05190.00530.01840.06870.0980D1.0D0.984D0.000D0.000P1.61L-1.77D-0.521T0.062T4.57924.95.792.7466.35420.0314.5785654.5785650.010.098140.01566NA0.036CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=not;CLNACC=RCV000057181.1;CLNDSDB=.;CLNDSDBID=.17.0809934
9131483551131483551TAexonicZDHHC12NAnonsynonymous SNVexonicENSG00000160446NAnonsynonymous SNVScore=506;Name=lod=152NA9q34.11NANANANArs115392090.05611020.07060.05460.05190.01590.10020.11470.0770D1.0D0.999D0.000D1.000D2.16M0.24T-0.755T0.042T4.47423.94.941.8487.41612.5424.4737394.47373900.0772010.019143NA0.036NA17.0708324
8101719004101719004GAexonicPABPC1NAnonsynonymous SNVexonicENSG00000070756NAnonsynonymous SNVScore=624;Name=lod=459NA8q22.3Score=824;Name=V$AP4_01Name=CTCF_(SC-5916)Name=2NArs62513924NANANANANANA0.3078NA0.03D0.452B0.302B0.000D1.000D1.565L2.5T-0.838T0.165T3.72918.945.32.6587.24819.3213.7294043.7294040.02NANANANANA17.0255334
133942262439422624CTexonicFREM2NAnonsynonymous SNVexonicENSG00000150893NAnonsynonymous SNVScore=525;Name=lod=182NA13q13.3NAName=FOXA1_(C-20)NANArs95485050.1096250.08950.0010.25220.14450.09410.12240.20.01D0.999D0.927D0.000D0.000P2.79M1.66T-1.204T0.000T4.61525.25.662.6904.80419.7544.6148094.6148090.010.109070.141625NA0.087NA17.0123634
17526907526907GTexonicVPS53NAnonsynonymous SNVexonicENSG00000141252NAnonsynonymous SNVScore=478;Name=lod=117NA17p13.3Score=880;Name=V$HSF1_01NANANArs169540560.09424920.10930.18550.08210.05820.04190.11160.230.01D0.999D0.973D0.000D0.000P2.31M1.02T-1.214T0.000T4.97929.15.72.6839.47618.8294.9786624.97866200.1076740.066046NA0.08NA17.0047594
117758326677583266GAexonicAAMDCNAnonsynonymous SNVexonicENSG00000087884NAnonsynonymous SNVScore=417;Name=lod=66NA11q14.1Score=919;Name=V$CDPCR3HD_01NANANArs21865640.1409740.10040.17660.18880.12860.12880.13350.20.06T0.998D0.953D0.000D0.000P2.28M-1.51D-1.099T0.002T4.24522.15.282.7466.49314.3414.2445714.2445710.010.0963420.119545ID=COSM147295;OCCURENCE=1(stomach)0.152NA17.0030914
125271308852713088GAexonicKRT83NAnonsynonymous SNVexonicENSG00000170523NAnonsynonymous SNVScore=633;Name=lod=498NA12q13.13NAName=Rad21,CTCF_(SC-5916),SMC3_(ab9263),CTCFName=17NArs28576630.1277960.10340.08040.05760.15890.20960.1190.160.01D0.067B0.077B0.048U1.000D3.115M-2.54D-0.757T0.010T3.34317.254.392.1579.62112.4533.3428233.3428230.010.1119770.146164NA0.203NA16.9989564
1155105985510598ATexonicOR52D1NAnonsynonymous SNVexonicENSG00000181609NAnonsynonymous SNVScore=346;Name=lod=34NA11p15.4NAName=Pol2(b)NANArs79500820.07547920.11630.0030.07350.0840.09820.10130.130D0.999D0.98D0.000D0.000P4.35H6.99T-1.148T0.000T3.59118.295.582.3438.85314.7233.5908153.59081500.1200840.095184NA0.094NA16.9956494
2152500449152500449CGexonicNEBNAnonsynonymous SNVexonicENSG00000183091NAnonsynonymous SNVScore=574;Name=lod=286NA2q23.3Score=876;Name=V$NF1_Q6NANANArs130132090.2933310.46620.26090.44380.0310.39670.4150.470.02D0.999D0.998D0.000D0.000P2.98M1.13T-0.977T0.000T4.32422.75.772.7294.89719.9944.3238924.32389200.473690.098309NA0.29CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000081143.3;CLNDSDB=.;CLNDSDBID=.16.9784434
165876812958768129CAexonicGOT2NAnonsynonymous SNVexonicENSG00000125166NAnonsynonymous SNVScore=429;Name=lod=74NA16q21Score=802;Name=V$YY1_02Name=Pol2,c-Myc,CTCF,HMGN3,Ini1,HEY1,Pol2(phosphoS2),TCF4,Pol2-4H8,E2F4,TBP,GTF2F1_(RAP-74),GABP,PU.1,NRSF,POU2F2,NFKB,Oct-2,TAF1,ZNF263NANArs115581710.04333070.1203NA0.04320.00450.06130.12180.12..0.984D0.935D0.000D0.954D1.1L2.14T-1.175T0.002T3.44917.684.942.5583.16813.5503.4493463.4493460.080.1129580.023245ID=COSM435472;OCCURENCE=1(breast)0.022NA16.9782754
85385287153852871ATexonicNPBWR1NAnonsynonymous SNVexonicENSG00000183729NAnonsynonymous SNVScore=558;Name=lod=247NA8q11.23NANANANArs339777750.08706070.13020.120.0850.00380.12270.11460.130D1.0D0.999D0.000D0.000P2.425M-2.2D-0.710T0.039T4.81727.35.062.1206.87514.9714.8166624.81666200.1182770.029759NA0.014NA16.9702564
165660279856602798GAexonicMT4NAnonsynonymous SNVexonicENSG00000102891NAnonsynonymous SNVScore=428;Name=lod=73NA16q12.2Score=993;Name=V$AP2ALPHA_01NANANArs116438150.05630990.12520.00790.0980.00760.07160.11080.130D1.0D1.0D0.000D1.000D..2.65T-1.273T0.001T3.47217.775.922.8106.70115.8213.4719853.47198500.1320070.029197NA0.029NA16.9653264
172010818420108184CGexonicSPECC1NAnonsynonymous SNVexonicENSG00000128487NAnonsynonymous SNVScore=405;Name=lod=59NA17p11.2Score=936;Name=V$LMO2COM_01NANANArs99080320.1136180.12230.09420.14550.0930.12990.11820.130.04D1.0D0.999D0.000D0.000P2.005M2.77T-0.961T0.010T4.03220.75.382.6983.06817.0054.0315374.0315370.130.1341860.114843NA0.152NA16.9586474
8101718968101718968CTexonicPABPC1NAnonsynonymous SNVexonicENSG00000070756NAnonsynonymous SNVScore=624;Name=lod=459NA8q22.3NAName=CTCF_(SC-5916)Name=2Score=67;Name=2348421_0_+_67rs62513922NANANANANANA0.4114NA0.4T0.003B0.008B0.000D1.000D1.955M0.95T-0.998T0.128T4.87427.95.42.7067.23319.5284.8738274.8738270.31NANANANANA16.9219334
36396790063967900AGexonicATXN7NAnonsynonymous SNVexonicENSG00000163635NAnonsynonymous SNVScore=582;Name=lod=310NA3p14.1Score=896;Name=V$YY1_01Name=c-Myc,PU.1NANArs10533380.1146170.14710.14780.19160.01210.13090.13440.180.11T0.997D0.985D0.000D0.000P1.185L1.35T-1.101T0.000T3.25116.94.571.0054.06211.6023.2513283.2513280.030.1309410.035123NA0.08CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116489.2;CLNDSDB=.;CLNDSDBID=.16.9208924
212830521228305212CTexonicADAMTS5NAnonsynonymous SNVexonicENSG00000154736NAnonsynonymous SNVScore=516;Name=lod=167NA21q21.3Score=869;Name=V$YY1_01NANANArs28305850.09884190.17990.09920.11380.04840.07260.12580.180D1.0D0.999D0.000D0.000P2.87M0.49T-1.067T0.002T5.474356.032.8547.48720.5675.4736295.473629NA0.1595350.072401ID=COSM1413521;OCCURENCE=3(large_intestine)0.188NA16.8680984
6154360797154360797AGexonicOPRM1NAnonsynonymous SNVexonicENSG00000112038NAnonsynonymous SNVScore=431;Name=lod=75NA6q25.2Score=693;Name=V$BRACH_01Name=NRSF,CtBP2Name=44NArs17999710.2234420.1620.39290.20030.00910.41820.18560.380.01D0.95P0.775P0.137N0.000P0N2.16T-0.989T0.037T4.35622.95.752.2002.32215.0414.3559254.3559250.020.1287920.030622NA0.094CLINSIG=unknown;CLNDBN=Opioid_dependence_1;CLNREVSTAT=single;CLNACC=RCV000010146.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1864733:61006416.8569414
7151945007151945007CTexonicMLL3NAnonsynonymous SNVexonicENSG00000055609NAnonsynonymous SNVScore=651;Name=lod=589NA7q36.1Score=766;Name=V$MYOGNF1_01NANANArs2479172NANANANANANA0.4944NA0.43T1.0D0.999D0.000D1.000D1.04L-2.3D-0.835T0.230T4.38123.15.672.6587.48419.7694.3811864.3811860.01NANANANANA16.8389334
174521460445214604ATexonicCDC27NAnonsynonymous SNVexonicENSG00000004897NAnonsynonymous SNVScore=658;Name=lod=631NA17q21.32Score=721;Name=V$SRF_01Name=ZZZ3,GATA-2,YY1,c-Fos,IRF3,TAF7_(SQ-8),CTCF,c-Jun,GCN5,CTCFL_(SC-98982),SUZ12,STAT1,ZBTB33,GABP,ZNF274,EBF,TAF1Name=148NArs75661039NANANANANANA0.4987NA0D0.999D0.983D0.000D1.000D3.08M0.34T-0.378T0.345T4.38823.2-1.66-0.6480.08811.9204.387754.387750NANANANANA16.8346334
1144994658144994658CAexonicPDE4DIPNAnonsynonymous SNVexonicENSG00000178104NAnonsynonymous SNVScore=720;Name=lod=1125NA1q21.1NANAName=52NArs1664022NANANANANANA0.49980.50D1.0D1.0D..1.000D2.945M1.47T-0.625T0.209T5.72365.782.7317.70817.5005.7196245.7196240NANANA0.5NA16.8335334
1144871738144871738CAexonicPDE4DIPNAnonsynonymous SNVexonicENSG00000178104NAnonsynonymous SNVScore=574;Name=lod=288NA1q21.1Score=881;Name=V$NF1_Q6Name=PU.1NANArs1698605NANANANANANA0.50.50.48T0.997D0.985D..1.000D1.995M4.7T-0.798T0.015T5.071315.972.8346.65017.9185.0713755.0713750.06NANANA0.442NA16.8333334
1144931330144931330CTexonicPDE4DIPNAnonsynonymous SNVexonicENSG00000178104NAnonsynonymous SNVScore=500;Name=lod=143NA1q21.1NAName=c-Myc,HA-E2F1,ZNF263Name=134NArs2762745NANANANANANA0.50.50.02D1.0D0.988D..1.000D1.87L2.56T-1.152T0.064T4.03120.75.32.4676.05616.4374.0314934.0314930.08NANANA0.5NA16.8333334
4154279631154279631AGexonicMND1NAnonsynonymous SNVexonicENSG00000121211NAnonsynonymous SNVScore=603;Name=lod=377NA4q31.3NANANANANANANANANANANANANA0.06T0.973D0.848P0.000D1.000D2.34M..-0.224T0.395T2.99315.985.72.1657.04715.9592.9928632.9928630.03NANANANANA16.8333334
119253108892531088TAexonicFAT3NAnonsynonymous SNVexonicENSG00000165323NAnonsynonymous SNVScore=435;Name=lod=78NA11q14.3Score=836;Name=V$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
1151374025151374025TCexonicPSMB4NAnonsynonymous SNVexonicENSG00000159377NAnonsynonymous SNVScore=431;Name=lod=75NA1q21.3Score=822;Name=V$IRF7_01NAName=28NArs46030.1920930.14610.31650.30260.06660.20250.19370.350D0.836P0.776P0.000D0.000P2.845M1.74T-0.840T0.120T3.97220.35.992.2917.79113.8673.9723733.97237300.1727910.09419NA0.152NA16.8207424
154167968541679685GCexonicNDUFAF1NAnonsynonymous SNVexonicENSG00000137806NAnonsynonymous SNVScore=539;Name=lod=207NA15q15.1Score=895;Name=V$PAX4_02NANANArs129007020.07208470.1849NA0.1110.01210.08380.13820.190.01D0.952P0.683P0.000D0.000P2.18M-0.14T-1.176T0.001T5.19325.582.6448.85919.5925.1895595.1895590.010.190.036995NA0.08CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117704.2;CLNDSDB=.;CLNDSDBID=.16.8202334
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$CHOP_01NANANArs343551350.003793930.006NA0.0115NA0.00510.00550.010.23T0.607P0.145B0.000N1.000D3.27M-3.93D0.063D0.724D1.27910.18-0.879-0.1671.2623.4731.2794581.2794580.040.0077910.001589NANACLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000117500.1;CLNDSDB=.;CLNDSDBID=.16.8140424
3167320010167320010TCexonicWDR49NAnonsynonymous SNVexonicENSG00000174776NAnonsynonymous SNVScore=532;Name=lod=193NA3q26.1NAName=NANOG_(SC-33759),SP1Name=3NArs752180750.07268370.0050.20340.01010.0870.03270.02280.190.17T0.997D0.905P0.001D1.000D1.66L0.23T-1.063T0.001T4.21921.95.42.0382.99614.4314.2192944.21929400.0019770.063323NA0.051NA16.8035564
202525900625259006GTexonicPYGBNAnonsynonymous SNVexonicENSG00000100994NAnonsynonymous SNVScore=630;Name=lod=484NA20p11.21Score=797;Name=V$PAX5_02NANANArs22289760.162340.18490.35120.12970.0530.11550.16660.350.06T0.971D0.941D0.000D0.000P3.005M-4.02D-1.863T0.000T5.03629.83.612.0279.37815.4245.0363985.0363980.010.1856980.079891ID=COSM149154;OCCURENCE=1(breast),1(stomach)0.094NA16.7961354
125321698953216989GAexonicKRT79NAnonsynonymous SNVexonicENSG00000185640NAnonsynonymous SNVScore=289;Name=lod=20NA12q13.13NANANANArs176886270.07208470.2147NA0.12680.00530.05110.13260.220D0.997D0.937D0.001D0.025P2.455M-2.38D-1.167T0.002T2.75515.173.82.4127.74211.5592.7551492.75514900.1906980.034271NA0.036NA16.7953354
3132218075132218075CTexonicDNAJC13NAnonsynonymous SNVexonicENSG00000138246NAnonsynonymous SNVScore=514;Name=lod=164NA3q22.1NANANANArs617481020.01277960.0209NA0.01010.02420.00410.01770.0330.01D0.998D0.803P0.000D1.000D2.56M0.65T-0.635T0.127T5.361345.422.7067.53519.5795.3605865.36058600.0188370.02542NA0.043NA16.7758964
11124180359124180359ACexonicOR8D1NAnonsynonymous SNVexonicENSG00000196341NAnonsynonymous SNVScore=371;Name=lod=43NA11q24.2NANAName=5NArs25104330.01058310.0219NA0.02310.00080.01430.0170.040.01D0.991D0.881P0.051U0.855D3.005M7.56T-0.816T0.001T1.69211.624.291.8134.0208.8491.692031.6920300.0250060.004316NA0.036NA16.7694274
429067072906707GTexonicADD1NAnonsynonymous SNVexonicENSG00000087274NAnonsynonymous SNVScore=766;Name=lod=1731NA4p16.3NANANANArs49610.2084660.20480.45240.17440.04920.20040.20190.50.02D1.0D1.0D0.000D0.000P1.975M2.05T-0.946T0.000T4.04920.85.552.6106.52119.4964.0494874.0494870.020.1951160.085565NA0.275CLINSIG=other;CLNDBN=Hypertensionx2c_salt-sensitive_essentialx2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000019936.1;CLNDSDB=.;CLNDSDBID=.16.7315174
133122110631221106CTexonicUSPL1NAnonsynonymous SNVexonicENSG00000132952NAnonsynonymous SNVScore=547;Name=lod=223NA13q12.3NANANANArs37423030.04073480.03280.05850.02450.00150.09510.03980.070D0.988D0.68P0.000D0.986D2.28M0.79T-0.967T0.024T3.94420.24.721.4891.71012.9203.9436333.94363300.0332560.006809NA0.101NA16.7274774
2179650408179650408GAexonicTTNNAnonsynonymous SNVexonicENSG00000155657NAnonsynonymous SNVScore=570;Name=lod=277NA2q31.2Score=943;Name=V$EGR1_01Name=Egr-1NANArs358138710.1004390.21570.0010.14990.08620.06850.16910.230D0.999D0.951D..0.062P0.895L0.25T-1.116T0.000T2.4614.195.512.7385.61919.7842.4602172.46021700.2345350.102133NA0.13CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040075.2|RCV000125850.1;CLNDSDB=.|.;CLNDSDBID=.|.16.7139984
193349056633490566TCexonicRHPN2NAnonsynonymous SNVexonicENSG00000131941NAnonsynonymous SNVScore=548;Name=lod=224NA19q13.11Score=884;Name=V$ZID_01NANANArs745829270.2781550.28830.24010.21760.30030.320.3653NA0.2T1.0D0.982D0.000D1.000D2.34M2.26T-1.024T0.112T4.38923.24.721.7657.27814.2054.3894444.3894440.08NANAID=COSM1480906;OCCURENCE=2(breast)NANA16.6797334
11124294377124294377AGexonicOR8B4NAnonsynonymous SNVexonicENSG00000198657NAnonsynonymous SNVScore=389;Name=lod=51NA11q24.2NAName=MafF_(M8194),MafK_(SC-477),MafK_(ab50322)NANArs40577500.2599840.19780.21630.19310.38430.24850.23250.430.01D1.0D0.999D0.000D0.001P3.38M7.58T-0.931T0.000T3.5318.024.622.0738.75614.1353.5301063.5301060.010.2283090.341209NA0.341NA16.6747244
11124294236124294236AGexonicOR8B4NAnonsynonymous SNVexonicENSG00000198657NAnonsynonymous SNVScore=355;Name=lod=37NA11q24.2Score=887;Name=V$GATA1_02NANANArs40577490.281550.19880.21630.1960.46370.24850.23780.510.01D1.0D0.995D0.000D0.000P3.76H0.02T-0.966T0.000T3.01116.054.022.0707.01613.7133.0114843.0114840.010.2286580.389368NA0.355NA16.6680754
159132609991326099CTexonicBLMNAnonsynonymous SNVexonicENSG00000197299NAnonsynonymous SNVScore=593;Name=lod=343NA15q26.1Score=817;Name=V$CEBP_CNANANArs22279350.05131790.0736NA0.0490.07490.05110.05590.090.02D0.81P0.342B0.000D0.000P2.395M0.66T-0.918T0.010T3.82919.455.542.6035.64716.9753.8292463.82924600.0652630.073476NA0.029CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000078058.4;CLNDSDB=.;CLNDSDBID=.16.6385704
1910799591079959GAexonicHMHA1NAnonsynonymous SNVexonicENSG00000180448NAnonsynonymous SNVScore=573;Name=lod=284NA19p13.3Score=867;Name=V$OCT1_02Name=USF1_(SC-8983),Rad21,CTCFName=6NArs360843540.02915340.08550.00690.05480.00450.00920.05840.0820.29T0.649P0.21B0.000U1.000D2.045M1.0T-1.131T0.008T3.3417.244.412.0212.74114.4943.3398323.3398320.240.0820930.018611ID=COSM438502;OCCURENCE=2(breast)0.08NA16.6073404
158257487982574879TCexonicFAM154BNAnonsynonymous SNVexonicENSG00000188659NAnonsynonymous SNVScore=300;Name=lod=22NA15q25.2Score=919;Name=V$NFKB_CName=NFKB,CTCFNANArs116301970.2348240.28730.16470.170.1460.41920.25350.30.33T1.0D0.998D0.000D0.000P2.67M2.16T-1.009T0.000T3.4317.63.91.7516.25513.1533.4298383.42983800.2556980.167272NA0.246NA16.5368354
1103379918103379918GAexonicCOL11A1NAnonsynonymous SNVexonicENSG00000060718NAnonsynonymous SNVScore=603;Name=lod=376Name=Glaucoma (primary open-angle)1p21.1NANANANArs37538410.4966050.61230.70340.7550.04920.58590.59160.730.09T0.935P0.715P0.000D0.000P2.75M-4.09D0.969D0.915D4.10721.25.752.7169.36519.9604.1072444.1072440.120.6116280.139582NA0.348NA16.5178054
6160952838160952838GAexonicLPANAnonsynonymous SNVexonicENSG00000198670NAnonsynonymous SNVScore=619;Name=lod=437NA6q25.3Score=837;Name=V$AHRARNT_01NANANArs31247840.2026760.29420.10810.13980.24210.19730.24560.290.1T1.0D0.994D..0.840P1.35L-2.5D0.354D0.664D0.617.2853.021.4122.79113.9630.609824NA0.020.2763950.232864NA0.167NA16.5171384
114747034547470345GAexonicRAPSNNAnonsynonymous SNVexonicENSG00000165917NAnonsynonymous SNVScore=546;Name=lod=221NA11p11.2NANANANArs343121540.05770770.11630.0050.10230.0030.09410.10080.120.04D0.999D0.862P0.000D0.000P1.1L-1.58D-0.705T0.019T4.77726.85.452.5535.47413.344.7769464.77694600.1067940.02249NA0.036CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118118.2;CLNDSDB=.;CLNDSDBID=.16.5094394
174521455845214558GAexonicCDC27NAstopgainexonicENSG00000004897NAstopgainScore=658;Name=lod=631NA17q21.32Score=917;Name=V$FOXO4_01Name=SUZ12,STAT1,GABP,TAF1,EBF,ZNF274,YY1,GATA-2,ZZZ3,c-Fos,CTCF,IRF3,c-Jun,CTCFL_(SC-98982)Name=148NArs77685276NANANANANANA0.4968NA1T....0.000D1.000A........7.519394.792.7612.04110.7197.5185327.5185321NANANANANA16.5032
54084174140841741CTexonicCARD6NAnonsynonymous SNVexonicENSG00000132357NAnonsynonymous SNVScore=309;Name=lod=24NA5p13.1Score=831;Name=V$CEBP_CName=GTF2F1_(RAP-74),Pol2,p300,FOXA1_(SC-101058),CTCF,YY1,HEY1,FOXA2_(SC-6554),FOXA1_(C-20),MafK_(SC-477),TAF1,MafK_(ab50322),MafF_(M8194),TBPName=105NArs105127470.0481230.12720.0050.06050.00680.05830.09130.130D0.989D0.845P0.135N0.677P1.935M2.76T-1.091T0.001T3.84119.514.011.2750.4798.5443.8406413.84064100.1204650.024512NA0.072NA16.4943684
5118811533118811533GAexonicHSD17B4NAnonsynonymous SNVexonicENSG00000133835NAnonsynonymous SNVScore=592;Name=lod=340NA5q23.1Score=887;Name=V$HSF1_01NANANArs256400.362620.44930.50690.50860.10970.3630.440.50.02D0.996D0.687P0.000D0.000P0.6N-2.29D-0.975T0.000T4.3823.15.672.6767.63319.3584.3802964.3802960.010.4599810.176203ID=COSM1432658;OCCURENCE=1(large_intestine)0.239CLINSIG=pathogenic;CLNDBN=Bifunctional_peroxisomal_enzyme_deficiency;CLNREVSTAT=single;CLNACC=RCV000008096.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C0342870:261515:23806800716.4840524
10115410234115410234TCexonicNRAPNAnonsynonymous SNVexonicENSG00000197893NAnonsynonymous SNVScore=519;Name=lod=171NA10q25.3Score=885;Name=V$GATA1_04NANANArs21859130.2034740.30120.33430.2450.01820.18920.25980.350.02D1.0D1.0D0.000D0.000P2.44M2.32T-1.062T0.000T4.51324.36.172.3717.28316.8224.5128884.5128880.020.2920930.058103ID=COSM147049;OCCURENCE=1(stomach)0.174NA16.4802404
193242139324213CTexonicH6PDNAnonsynonymous SNVexonicENSG00000049239NAnonsynonymous SNVScore=304;Name=lod=23NA1p36.22Score=979;Name=V$AP2REP_01NANANArs173685280.0968450.13020.06850.11380.00530.20350.11850.130.02D0.913P0.208B0.001D0.000P2.075M-4.76D-0.514T0.077T2.42414.064.762.6771.81713.1472.4236912.423691NA0.1226150.022727NA0.094NA16.4620184
1155106885510688TCexonicOR52D1NAnonsynonymous SNVexonicENSG00000181609NAnonsynonymous SNVScore=278;Name=lod=18NA11p15.4NAName=Pol2(b)NANArs71019190.1543530.31110.03970.27670.05670.15640.26110.320D1.0D0.99D0.000D0.000P3.255M8.52T-0.783T0.000T3.45517.75.582.3432.09514.7233.4548923.45489200.3219690.096547NA0.275NA16.4391644
1226019633226019633TCexonicEPHX1NAnonsynonymous SNVexonicENSG00000143819NAnonsynonymous SNVScore=468;Name=lod=106NA1q42.12NANANANArs10517400.3132990.30420.48210.31990.14070.37730.31340.450D0.998D0.986D0.000D0.000P2.185M3.7T-0.886T0.000T4.9929.35.582.1367.80915.7584.9902244.99022400.2996510.176123NA0.326CLINSIG=other|other|other|other;CLNDBN=Lymphoproliferative_disordersx2c_susceptibility_to|Preeclampsiax2c_susceptibility_to|Emphysemax2c_susceptibility_to|Pulmonary_diseasex2c_chronic_obstructivex2c_susceptibility_to;CLNREVSTAT=single|single|single|single;CLNACC=RCV000018075.1|RCV000018076.1|RCV000018077.1|RCV000018078.1;CLNDSDB=.|.|.|.;CLNDSDBID=.|.|.|.16.4160824
167168371871683718AGexonicPHLPP2NAnonsynonymous SNVexonicENSG00000040199NAnonsynonymous SNVScore=547;Name=lod=223NA16q22.2NANANAScore=92;Name=928795_0_+_92rs617331270.0868610.14810.06650.06340.0280.14110.12140.160.02D0.975D0.853P0.000D0.000P2.99M2.28T-1.146T0.001T3.82619.435.92.2519.33915.5133.8261513.8261510.020.1498840.045723NA0.051NA16.4139494
173407723234077232GAexonicGAS2L2NAnonsynonymous SNVexonicENSG00000132139NAnonsynonymous SNVScore=550;Name=lod=229NA17q12Score=769;Name=V$PAX5_01Name=ZBTB7A_(SC-34508),Egr-1,E2F6_(H-50),ELF1_(SC-631)Name=42NArs116546040.1433710.1620.15670.20460.10140.12370.1560.20.4T0.998D0.773P0.318N0.584P1.95M0.98T-1.087T0.000T2.58314.65.112.3701.60812.7332.5834292.5834290.040.147360.108715NA0.196NA16.3679734
984656668465666CGexonicPTPRDNAnonsynonymous SNVexonicENSG00000153707NAnonsynonymous SNVScore=616;Name=lod=425NA9p24.1NANANANANANANANANANANANANA..0.981D0.932D0.000D1.000D1.78L0.91T-0.619T0.306T4.14421.45.52.7467.44519.7574.1441764.1441760.25NANANANANA16.3333334
172121751321217513GAexonicMAP2K3NAnonsynonymous SNVexonicENSG00000034152NAnonsynonymous SNVScore=522;Name=lod=177NA17p11.2Score=747;Name=V$STAT5A_02NANANArs2363198NANANANANANA0.50.50D0.997D0.789P0.000D1.000D1.655L-0.77T-0.986T0.000T3.58618.263.941.0577.17410.6663.585783.585780NANANA0.42NA16.3333334
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$STAT3_01NANANArs2017200970.0005990420.002NANANA0.0010.00070.00260.81T1.0D0.998D0.000D0.945D1.78L0.82T-0.787T0.238T3.89119.785.182.5543.81017.2383.8910883.8910880.010.0004840NANANA16.3301494
47036118270361182TCexonicUGT2B4NAnonsynonymous SNVexonicENSG00000156096NAnonsynonymous SNVScore=272;Name=lod=17NA4q13.2NANANANArs1816037900.000998403NANA0.00580.0008NA0.00160.010.05D1.0D0.999D0.003U0.999D2.305M-0.06T-0.445T0.293T1.711.642.41.1013.2648.3601.6999371.6999370.030.0022340.00048NANANA16.3294994
6132061420132061420GAexonicENPP3NAnonsynonymous SNVexonicENSG00000154269NAnonsynonymous SNVScore=295;Name=lod=21NA6q23.2NANAName=37NArs176015800.08925720.19980.01290.08790.01060.16160.1420.210.03D0.965D0.819P0.000D0.000P2.61M-0.48T-0.024T0.479T4.52824.45.452.7168.01519.6634.5278974.5278970.010.163140.028597NA0.116NA16.3283934
135304919853049198GCexonicCKAP2NAnonsynonymous SNVexonicENSG00000136108NAnonsynonymous SNVScore=340;Name=lod=32NA13q14.3Score=947;Name=V$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$CEBP_CNANANArs1412357200.0003993610.001NANA0.0008NA0.00210.00340.33T1.0D0.996D0.001D1.000D0.805L-1.13T-0.210T0.474T2.7715.224.652.4154.34717.7512.7701862.7701860.190.0033720.000908ID=COSM48755;OCCURENCE=1(lung),1(large_intestine)NANA16.3268614
9134308126134308126GAexonicPRRC2BNAnonsynonymous SNVexonicENSG00000130723NAnonsynonymous SNVScore=720;Name=lod=1122NA9q34.13NANANANArs413026750.001397760.003NA0.0043NA0.0010.00380.0040.02D0.997D0.992D0.002U1.000D2.7M1.08T-0.418T0.323T5.537356.032.8619.47619.5455.5370885.53708800.0029590.001207NANANA16.3235744
116229514962295149TGexonicAHNAKNAnonsynonymous SNVexonicENSG00000124942NAnonsynonymous SNVScore=547;Name=lod=223NA11q12.3NANANANArs615247890.02955270.002NA0.01010.1051NA0.00820.140.03D0.997D0.99D0.001U1.000D3.675H2.71T-1.128T0.001T3.03916.143.381.5465.88612.0113.0388923.0388920.280.0003490.085831NA0.036NA16.3227844
168962032889620328GAexonicSPG7NAnonsynonymous SNVexonicENSG00000197912NAnonsynonymous SNVScore=509;Name=lod=156NA16q24.3Score=809;Name=V$PAX4_01Name=c-MycNANArs129600.1058310.1660.1310.11240.00980.14310.15090.190.42T0.818P0.258B0.000D0.000P0.505N-1.69D-1.051T0.001T4.26422.25.212.4239.42317.7764.2640344.2640340.050.1938820.037534NA0.087CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118410.2;CLNDSDB=.;CLNDSDBID=.16.3225514
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=Pbx3,PU.1,POU2F2,Oct-2NANArs792474750.001597440.005NANANA0.00310.00550.0110.08T1.0D0.998D0.001D1.000D1.845L0.78T-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
203175695431756954GAexonicBPIFA2NAnonsynonymous SNVexonicENSG00000131050NAnonsynonymous SNVScore=383;Name=lod=48NA20q11.21NAName=CTCFNANArs171242770.02795530.005NA0.00580.0991NA0.00990.110D1.0D0.994D0.000D0.000P..1.4T-0.981T0.006T3.61518.44.222.6333.59612.3783.6150323.61503200.0019770.090785NA0.029NA16.3164564
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
104331858943318589ACexonicBMS1NAnonsynonymous SNVexonicENSG00000165733NAnonsynonymous SNVScore=638;Name=lod=522NA10q11.21NANANANArs138847020NANANANANANA0.0244NA0.58T0.999D0.994D0.000D1.000D3.065M2.61T-0.932T0.098T4.1521.44.541.8251.9408.0554.1496084.1496080NANAID=COSM1347789;OCCURENCE=1(large_intestine)NANA16.3089334
12121416650121416650ACexonicHNF1ANAnonsynonymous SNVexonicENSG00000135100NAnonsynonymous SNVScore=479;Name=lod=118Name=Cholesterol, total,LDL cholesterol,Gamma gluatamyl transferase levels12q24.31Score=755;Name=V$PPARA_01Name=TAF1NANArs11692880.2985220.3390.38890.330.08320.43250.35330.420.33T0.025B0.047B0.001D0.000P1.445L-4.99D-1.199T0.000T2.48514.274.451.6373.13512.9002.4852592.4852590.090.3351560.120744ID=COSM430522;OCCURENCE=1(breast)0.21CLINSIG=other|other|probable-non-pathogenic|non-pathogenic;CLNDBN=Insulin_resistancex2c_susceptibility_to|Serum_hdl_cholesterol_levelx2c_modifier_of|not_specified|not_provided;CLNREVSTAT=single|single|single|single;CLNACC=RCV000016074.1|RCV000016075.25|RCV000117233.3|RCV000125370.1;CLNDSDB=MedGen|.|.|.;CLNDSDBID=C1852091|.|.|.16.3058774
8143816828143816828GAexonicTHEM6NAnonsynonymous SNVexonicENSG00000130193NAnonsynonymous SNVScore=325;Name=lod=28NA8q24.3NANANANArs115405440.002196490.008NA0.0029NA0.0010.01940.0130.05D1.0D1.0D0.000D1.000D1.67L0.93T-0.814T0.152T1.49210.944.072.1042.71211.6461.4916891.4916890.020.0127040.001366NANANA16.2932294
10100017453100017453TGexonicLOXL4NAnonsynonymous SNVexonicENSG00000138131NAnonsynonymous SNVScore=420;Name=lod=68NA10q24.2Score=847;Name=V$OCT_CNANANArs19838640.362220.3410.60810.52310.05750.42840.37370.590D1.0D1.0D0.000D0.000P2.59M0.62T-0.872T0.000T4.64925.55.552.1046.29815.6924.6485334.64853300.3265120.104857NA0.312NA16.2921214
222530114225301142AGexonicSGSM1NAnonsynonymous SNVexonicENSG00000167037NAnonsynonymous SNVScore=529;Name=lod=189NA22q11.23Score=962;Name=V$TCF11_01NANANArs617422740.004193290.0169NA0.0043NA0.0010.01010.0150.53T0.981D0.916D0.000D1.000D0.175N3.96T-0.708T0.012T3.54918.15.622.2786.17715.3213.5488953.5488950.020.0146850.004425NANANA16.2916484
9139946040139946040GAexonicENTPD2NAnonsynonymous SNVexonicENSG00000054179NAnonsynonymous SNVScore=381;Name=lod=47NA9q34.3NANANANArs346186940.005990420.0249NA0.0029NA0.00310.01040.030.12T1.0D1.0D0.000D1.000D2.695M2.24T-0.980T0.056T4.06320.94.782.2037.48316.7904.0631994.06319900.0144190.003636NANANA16.2836144
33253324632533246TCexonicCMTM6NAnonsynonymous SNVexonicENSG00000091317NAnonsynonymous SNVScore=358;Name=lod=38NA3p22.3NANANANArs355748030.006988820.0239NA0.0072NA0.00610.01610.0260.07T1.0D0.998D0.000D1.000D2.545M2.95T-1.140T0.036T2.82415.415.742.1935.54215.0332.8238962.82389600.0265120.003177NA0.043NA16.2668214
12122618042122618042GAexonicMLXIPNAnonsynonymous SNVexonicENSG00000175727NAnonsynonymous SNVScore=278;Name=lod=18NA12q24.31Score=814;Name=V$HNF4_01_BName=CTCF_(SC-5916),CTCFName=12NArs1133362470.008386580.0288NA0.01010.00230.00310.02330.0330.36T0.948P0.642P0.111N0.989D..2.45T-1.111T0.050T1.97712.575.232.4374.15012.1911.9773351.9773350.010.0333090.006265NA0.014NA16.2479244
142453347424533474GAexonicLRRC16BNAnonsynonymous SNVexonicENSG00000186648NAnonsynonymous SNVScore=568;Name=lod=271NA14q11.2Score=865;Name=V$ATF_01NANANArs1170921130.01457670.0427NA0.02020.0030.01230.03250.0430.15T0.999D0.989D0.001D0.519D1.1L0.98T-0.867T0.053T2.84415.475.282.4671.17614.4362.8438572.8438570.160.0427910.010894NA0.022NA16.2153424
116635827466358274ACexonicCCDC87NAnonsynonymous SNVexonicENSG00000182791NAnonsynonymous SNVScore=352;Name=lod=36NA11q13.2NANANANArs620009690.0149760.0378NA0.02590.0030.01530.03170.050D1.0D0.999D0.004N0.986D2.425M1.6T-0.954T0.040T2.84615.485.072.1325.17111.1382.8463242.84632400.0499420.011818NA0.022NA16.2138914
73088041330880413GAexonicFAM188BNAnonsynonymous SNVexonicENSG00000106125NAnonsynonymous SNVScore=446;Name=lod=87NA7p14.3NAName=GATA-2Name=14NArs349708330.01617410.0427NA0.01870.00080.02450.03980.0530D0.155B0.111B0.000D1.000D0.11N1.68T-1.072T0.008T2.84815.494.932.5713.46815.6842.8482052.84820500.0526130.010579NA0.08NA16.1982204
6160196343160196343AGexonicACAT2NAnonsynonymous SNVexonicENSG00000120437NAnonsynonymous SNVScore=444;Name=lod=85NA6q25.3NANANANArs256830.3652160.54570.16370.59650.16790.48980.5160.570.05D0.969D0.621P0.000D0.000P1.68L-2.84D0.433D0.657D4.98629.25.652.1668.69115.8804.9864984.9864980.060.5744190.219927NA0.312NA16.1972144
84156643841566438CTexonicANK1NAnonsynonymous SNVexonicENSG00000029534NAnonsynonymous SNVScore=569;Name=lod=275NA8p11.21Score=777;Name=V$ER_Q6Name=MafK_(ab50322),MafK_(SC-477),MafF_(M8194)NANArs23048770.04033550.04370.03970.05040.05750.00720.04360.0760.04D0.02B0.005B0.000D1.000D2.55M-0.21T-0.884T0.035T2.413.983.720.7012.58911.7812.4000682.4000680.010.0488370.054698NA0.138NA16.1971964
127153353471533534CGexonicTSPAN8NAnonsynonymous SNVexonicENSG00000127324NAnonsynonymous SNVScore=533;Name=lod=195NA12q21.1NANANANArs37639780.2270370.39560.28470.22330.03780.25260.33320.410.01D0.999D0.989D0.000D0.000P3.59H-3.52D-1.673T0.000T3.88519.745.092.5254.36216.3633.8845053.8845050.080.410.109623ID=COSM1364054;OCCURENCE=1(large_intestine)0.225NA16.1945334
34973795449737954GAexonicRNF123NAnonsynonymous SNVexonicENSG00000164068NAnonsynonymous SNVScore=605;Name=lod=382NA3p21.31NAName=CTCFNANArs356202480.02236420.07160.0060.02590.00680.00720.04970.070.23T0.999D0.978D0.001D1.000D0.695N-0.63T-0.697T0.063T4.09521.15.42.5299.05318.1474.0954354.0954350.080.0605810.009759NA0.014NA16.1514524
142083703320837033TCexonicTEP1NAnonsynonymous SNVexonicENSG00000129566NAnonsynonymous SNVScore=472;Name=lod=111NA14q11.2Score=731;Name=V$SEF1_CNANANArs21049780.03454470.06560.0020.03170.0030.08080.05570.070.6T0.999D0.977D0.001D1.000D1.24L0.35T-1.021T0.026T4.15121.45.812.2263.91713.6844.1510484.1510480.120.0662790.014072NA0.014NA16.1457544
16751853467518534CTexonicSLC35D1NAnonsynonymous SNVexonicENSG00000116704NAnonsynonymous SNVScore=501;Name=lod=145NA1p31.3Score=899;Name=V$TAL1ALPHAE47_01Name=FOXA1_(C-20),FOXA2_(SC-6554),FOXA1_(SC-101058)Name=9NArs101574220.1042330.0577NA0.0620.2670.06950.0750.240.56T0.402B0.109B0.000D0.000P1.935M0.28T-0.903T0.125T5.02229.65.052.3427.39017.1615.0222455.0222450.250.065930.233999NA0.167NA16.1347034
2166152389166152389GAexonicSCN2ANAnonsynonymous SNVexonicENSG00000136531NAnonsynonymous SNVScore=785;Name=lod=2057NA2q24.3Score=890;Name=V$NFKAPPAB50_01NANANArs171838140.08386580.05670.13790.08210.02120.14210.0820.130.13T0.002B0.015B0.000D0.846P2.015M-4.0D-0.458T0.055T1.7611.855.552.6192.40913.7551.7602551.7602550.180.0716280.033591NA0.08CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118260.2;CLNDSDB=.;CLNDSDBID=.16.1230054
12440919124409191CTexonicMYOM3NAnonsynonymous SNVexonicENSG00000142661NAnonsynonymous SNVScore=309;Name=lod=24NA1p36.11Score=794;Name=V$ARP1_01NANANArs43207290.2567890.43640.42660.32130.01590.17690.36830.450.03D1.0D0.999D0.000D0.000P2.425M0.06T-1.025T0.000T3.70218.85.412.5465.78319.1973.7019813.70198100.4194470.08288NA0.188NA16.1091864
9125377734125377734AGexonicOR1Q1NAnonsynonymous SNVexonicENSG00000165202NAnonsynonymous SNVScore=464;Name=lod=103NA9q33.2NANANANArs7279130.119010.06460.31650.17150.02270.06440.10280.270D1.0D1.0D0.000D0.035P3.7H1.01T-1.093T0.000T4.19721.85.572.3408.87114.8574.1968364.19683600.0636050.027916NA0.058NA16.1023284
8101718932101718932CGexonicPABPC1NAnonsynonymous SNVexonicENSG00000070756NAnonsynonymous SNVScore=596;Name=lod=351NA8q22.3Score=846;Name=V$MRF2_01Name=CTCF_(SC-5916)NANArs62513920NANANANANANA0.2544NA0.32T0.0B0.003B0.001D1.000D1.915M1.01T-1.002T0.128T5.122325.32.6587.23319.3215.1223615.1223610.09NANANANANA16.0789334
1110766454110766454GAexonicKCNC4NAnonsynonymous SNVexonicENSG00000116396NAnonsynonymous SNVScore=547;Name=lod=222NA1p13.3NANANANArs591233610.05031950.09240.04370.08210.02650.02350.08270.110.57T0.861P0.531P0.015N0.992D1.59L-4.24D0.110D0.831D2.24913.484.892.4223.29912.5192.2485582.2485580.340.1052330.036768NA0.065NA16.0530004
174187907441879074TCexonicMPP3NAnonsynonymous SNVexonicENSG00000161647NAnonsynonymous SNVScore=437;Name=lod=80NA17q21.31NANANANArs177426830.06769170.11330.03670.07640.00610.12990.09010.110.01D0.999D0.994D0.000D0.001P1.975M2.18T-1.098T0.003T3.68218.715.332.2382.73912.9043.6824513.68245100.0987220.01749ID=COSM1579573;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)0.152NA16.0312114
67579730275797302CTexonicCOL12A1NAnonsynonymous SNVexonicENSG00000111799NAnonsynonymous SNVScore=584;Name=lod=316NA6q13NANANANArs9705470.7118610.77440.67960.77380.68310.67590.74510.790.05D1.0D0.999D0.000D0.000P1.65L-2.08D0.557D0.755D5.487355.752.7197.46319.5485.486795.486790.080.7842810.659067ID=COSM150125;OCCURENCE=1(stomach)0.826NA16.0295524
1746893134689313GCexonicVMO1NAnonsynonymous SNVexonicENSG00000182853NAnonsynonymous SNVScore=343;Name=lod=33NA17p13.2NANANANArs22799610.09464860.09940.09920.10520.1150.05010.10430.130.02D1.0D1.0D0.000D0.000P2.575M0.67T-0.929T0.005T3.07316.264.432.2867.18712.4043.0730613.07306100.1062790.125057NA0.072NA16.0233544
12125348263125348263CTexonicSCARB1NAnonsynonymous SNVexonicENSG00000073060NAnonsynonymous SNVScore=371;Name=lod=43NA12q24.31NAName=E2F6_(H-50),Oct-2,TAF1,Rad21,POU2F2,CCNT2,AP-2alpha,Pol2,Mxi1_(bHLH),Pol2-4H8,E2F6,AP-2gammaName=138NArs42380010.06429710.11630.0030.09940.06660.0460.10840.110.03D1.0D0.994D0.776U0.000P1.87L0.18T-0.739T0.030T3.63518.493.221.7341.36510.5913.6353653.63536500.0991330.052494NANANA16.0095004
124836797648367976CTexonicCOL2A1NAnonsynonymous SNVexonicENSG00000139219NAnonsynonymous SNVScore=495;Name=lod=137NA12q13.11Score=846;Name=V$RFX1_01NANANArs20707390.1709270.09640.42860.28960.00380.12370.150.430.17T1.0D0.999D0.000D0.000P2.835M-0.8T-1.115T0.000T4.5124.25.062.5004.06418.3804.5098324.5098320.030.0941860.022242NA0.101NA15.9927474
73643870936438709CGexonicANLNNAnonsynonymous SNVexonicENSG00000011426NAnonsynonymous SNVScore=499;Name=lod=142NA7p14.2NANANANArs37354000.1269970.09840.18060.16860.10360.10330.13070.160D1.0D0.999D0.000D0.000P2.255M3.82T-1.035T0.002T3.48117.814.591.4534.34614.3123.4810733.48107300.1132560.121652ID=COSM1131590;OCCURENCE=1(prostate)0.159NA15.9909774
1236175327236175327CAexonicNID1NAnonsynonymous SNVexonicENSG00000116962NAnonsynonymous SNVScore=479;Name=lod=118NA1q42.3Score=787;Name=V$PPARG_03NAName=6NArs37385310.1944890.08850.25890.31270.11040.26690.16550.260.11T0.953P0.895P0.000D0.000P1.15L-1.77D-1.131T0.000T3.08216.293.581.4251.1459.7293.0818013.081801NA0.0983720.110077NA0.145NA15.9809614
5162896650162896650CTexonicHMMRNAnonsynonymous SNVexonicENSG00000072571NAnonsynonymous SNVScore=363;Name=lod=40NA5q34NANANANArs2992840.07468050.14020.01190.06630.06880.08590.10370.140.02D1.0D0.983D0.000D0.000P2.135M1.36T-0.881T0.013T4.45823.85.311.6265.62315.7564.4577284.4577280.010.1176740.088743NA0.087NA15.9717594
1149451994945199CTexonicOR51G1NAnonsynonymous SNVexonicENSG00000176879NAnonsynonymous SNVScore=371;Name=lod=43NA11p15.4Score=820;Name=V$HNF4_01_BNANANArs347424700.04892170.1441NA0.09370.01440.01640.09370.140.01D1.0D0.996D0.001U0.000P3.33M-1.1T-0.687T0.016T2.66214.863.30.9882.99211.0452.662192.662190.020.1322710.036801NA0.123NA15.9632624
24373282343732823TCexonicTHADANAnonsynonymous SNVexonicENSG00000115970NAnonsynonymous SNVScore=549;Name=lod=228Name=Type 2 diabetes2p21Score=934;Name=V$SOX5_01NANANArs75785970.1371810.09050.0060.07490.30940.13190.17330.340.11T1.0D0.998D0.000D0.000P1.045L1.15T-0.995T0.000T3.09916.355.542.3234.61114.7953.0993373.0993370.120.1097380.260215NA0.152NA15.9597954
165586288355862883CAexonicCES1NAnonsynonymous SNVexonicENSG00000198848NAnonsynonymous SNVScore=251;Name=lod=14NA16q12.2NANANANArs3826190NANANANANANA0.39120.450.01D0.992D0.969D0.000N1.000D1.96M-0.17T-0.842T0.000T3.60418.353.522.0511.8819.5303.6041043.6041040NANAID=COSM1128928;OCCURENCE=1(prostate)0.007NA15.9421334
9132580901132580901CGexonicTOR1ANAnonsynonymous SNVexonicENSG00000136827NAnonsynonymous SNVScore=391;Name=lod=52NA9q34.11NANANANArs18019680.08366610.13820.05560.10950.00230.14830.12280.150.02D0.904P0.615P0.000D0.039P1.935M1.0T-1.035T0.001T3.63518.495.171.5571.2559.8793.6347093.6347090.010.1398840.027463NA0.051CLINSIG=other|pathogenic;CLNDBN=Dystonia_1x2c_torsionx2c_modifier_of|Dystonia_1;CLNREVSTAT=single|single;CLNACC=RCV000005490.3|RCV000020122.1;CLNDSDB=.|GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=.|NBK1492:C1851945:128100:ORPHA25615.9324494
191152676511526765GTexonicRGL3NAnonsynonymous SNVexonicENSG00000205517NAnonsynonymous SNVScore=417;Name=lod=66NA19p13.2Score=863;Name=V$STAT5A_01NANANArs1674790.4456870.46020.47820.54760.18610.67590.49520.520D1.0D0.993D0.000D0.046P2.215M1.54T-0.901T0.000T3.84219.513.810.9903.63313.1993.84193.841900.4850.235134NA0.355NA15.8929334
191941309219413092CTexonicSUGP1NAnonsynonymous SNVexonicENSG00000105705NAnonsynonymous SNVScore=509;Name=lod=156NA19p13.11Score=715;Name=V$NRSF_01NANANArs177510610.06888980.164NA0.10370.00610.10220.11970.160.06T1.0D0.999D0.000D0.000P2.28M0.93T-1.154T0.002T4.97429.15.032.3505.78816.9244.973754.973750.010.1580230.030413NA0.08NA15.8916104
6133789728133789728GAexonicEYA4NAnonsynonymous SNVexonicENSG00000112319NAnonsynonymous SNVScore=617;Name=lod=430NA6q23.2NANANANArs94936270.4095450.31110.34420.34290.56880.410.34170.570.42T0.969D0.868P0.000D0.000P1.535L-1.69D-0.202T0.533D5.55355.492.7399.42019.7445.5501845.5501840.090.3127910.519973NA0.5CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037882.1;CLNDSDB=.;CLNDSDBID=.15.8677424
157421954674219546GTexonicLOXL1NAnonsynonymous SNVexonicENSG00000129038NAnonsynonymous SNVScore=614;Name=lod=419NA15q24.1Score=835;Name=V$AHRARNT_01Name=c-Myc,Pol2Name=31NArs10486610.3113020.32010.51790.30550.15360.30670.33740.510.01D0.914P0.325B0.366N0.292P1.67L1.6T-0.911T0.000T4.33522.84.11.8182.79213.8244.3345874.33458700.3096670.160208NA0.007CLINSIG=other;CLNDBN=Exfoliation_syndromex2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000015434.1;CLNDSDB=.;CLNDSDBID=.15.8661664
93839600238396002CTexonicALDH1B1NAnonsynonymous SNVexonicENSG00000137124NAnonsynonymous SNVScore=457;Name=lod=96NA9p13.2NANANANArs22280930.2304310.15110.39290.28530.08090.30780.18510.40D1.0D0.996D0.000D0.000P3.07M1.73T-1.015T0.000T4.85727.75.512.5987.20116.9014.8568354.85683500.1329070.107127NA0.123NA15.8642264
211687811168781CAexonicSNTG2NAnonsynonymous SNVexonicENSG00000172554NAnonsynonymous SNVScore=472;Name=lod=111NA2p25.3NANANANArs285059700.206270.1690.10420.0980.36080.21780.16290.350.02D0.999D0.996D0.000D0.000P2.2M0.55T-1.085T0.000T2.5514.494.582.0674.96915.1672.5502712.5502710.020.1507540.301595ID=COSM148791;OCCURENCE=1(stomach)0.254NA15.8506794
3183861243183861243AGexonicEIF2B5NAnonsynonymous SNVexonicENSG00000145191NAnonsynonymous SNVScore=627;Name=lod=471NA3q27.1NAName=NFKB,USF2,USF-1Name=6NArs8433580.3899760.30420.52880.36460.32680.43870.34980.531T0.591P0.163B0.000D0.000P1.385L-1.55D-0.973T0.000T1.98812.65.722.1835.21416.0151.9880851.9880850.140.3287210.327054NA0.275CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000080353.3;CLNDSDB=.;CLNDSDBID=.15.8506124
154030885940308859GTexonicEIF2AK4NAnonsynonymous SNVexonicENSG00000128829NAnonsynonymous SNVScore=504;Name=lod=149NA15q15.1NANAName=59NArs356026050.06988820.17690.0060.09650.02340.06950.13060.180.08T1.0D0.995D0.000D0.000P2.265M1.18T-1.223T0.001T4.234225.522.7517.80719.8184.234064.2340600.1775050.050449NA0.072NA15.8483284
174523441745234417AGexonicCDC27NAnonsynonymous SNVexonicENSG00000004897NAnonsynonymous SNVScore=731;Name=lod=1246NA17q21.32Score=790;Name=V$GFI1_01Name=SETDB1,PU.1,BRF1,GTF2F1_(RAP-74),SUZ12,STAT1,ZBTB33,Pol2(b),TAL1_(SC-12984),ZNF274,TAF1,MafK_(ab50322),RPC155,EBF,NFKB,Nrf1,RXRA,SMC3_(ab9263),BRF2,CTCF,HA-E2F1,IRF3,TAF7_(SQ-8),CHD2_(N-1250),p300,HDAC2_(SC-6296),p300_(F-4),ZZZ3,YY1,GATA-2,TR4,CTCFL_(SC-98982),TBP,Mxi1_(bHLH),BDP1Name=145NArs193061947NANANANANANA0.4881NA0.56T0.131B0.046B0.000D1.000D0.695N0.81T-0.916T0.162T3.16916.65.442.0668.75413.4443.1689323.1689320.01NANANANANA15.8452334
6136582417136582417GAexonicBCLAF1NAnonsynonymous SNVexonicENSG00000029363NAnonsynonymous SNVScore=733;Name=lod=1274NA6q23.3NANANANArs62431283NANANANANANA0.4925NA0.04D1.0D0.997D0.000D1.000D0N4.26T-0.997T0.084T2.70515.015.712.6915.36318.0342.704942.704940.03NANANANANA15.8408334
9286593286593CAexonicDOCK8NAnonsynonymous SNVexonicENSG00000107099NAnonsynonymous SNVScore=556;Name=lod=242NA9p24.3NANAName=2NArs5292080.5297520.48410.72120.52310.39180.57060.52060.720.05D0.996D0.978D0.000D0.000P2.085M0.72T-0.961T0.000T3.73418.964.571.3153.1499.9933.7342023.7342020.080.4898840.414208NA0.442NA15.8387494
172131923021319230GCexonicKCNJ12,KCNJ18NAnonsynonymous SNVexonicENSG00000184185NAnonsynonymous SNVScore=512;Name=lod=161NA17p11.2NANANANArs1657742NANANANANANA0.49750.280.03D0.004B0.009B0.000N0.998D1.6L-3.38D0.178D0.691D1.78111.915.322.4962.5869.6781.7810111.7810110.06NANAID=COSM436189;OCCURENCE=1(breast)0.254NA15.8358334
6136582497136582497GTexonicBCLAF1NAnonsynonymous SNVexonicENSG00000029363NAnonsynonymous SNVScore=733;Name=lod=1274NA6q23.3Score=879;Name=V$YY1_01NANANArs62431284NANANANANANA0.49760.0110.06T1.0D0.999D0.001D1.000D0.46N4.32T-0.818T0.147T3.98820.45.52.5818.02019.3963.9877293.9877290.02NANANA0.014NA15.8357334
6136599822136599822CGexonicBCLAF1NAnonsynonymous SNVexonicENSG00000029363NAnonsynonymous SNVScore=741;Name=lod=1365NA6q23.3Score=877;Name=V$TST1_01NAName=2NArs99425170NANANANANA0.49990.50.09T0.999D0.992D0.000D0.000P1.79L0.12T-0.334T0.400T3.16616.595.642.6605.65519.6993.1658883.1658880NANANA0.5NA15.8334334
1144918957144918957TAexonicPDE4DIPNAnonsynonymous SNVexonicENSG00000178104NAnonsynonymous SNVScore=393;Name=lod=53NA1q21.1NANANANArs1061308NANANANANANA0.50.50D1.0D0.998D..1.000D1.935M4.41T-1.092T0.075T4.482245.642.1446.31013.7964.4820754.4820750NANANA0.5NA15.8333334
108236333782363337CTexonicSH2D4BNAnonsynonymous SNVexonicENSG00000178217NAnonsynonymous SNVScore=361;Name=lod=39NA10q23.1NANANANANANANANANANANA0NA0.05D0.581P0.123B0.000N1.000D2.24M1.97T-1.087T0.059T3.4417.645.121.5673.18112.9343.439683.439680.08NANANANANA15.8333334
114834693248346932GAexonicOR4C3NAnonsynonymous SNVexonicENSG00000176547NAnonsynonymous SNVScore=557;Name=lod=244NA11p11.2Score=740;Name=V$PPARG_01NANANArs802851950.00279553NANA0.00140.00680.00410.50.210.03D0.007B0.013B0.002N0.999D3.42M-1.1T-0.029T0.547D3.59818.325.782.7826.50717.6803.5981793.5981790.06NANANA0.196NA15.8333334
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
174424919944249199TGexonicKANSL1NAnonsynonymous SNVexonicENSG00000120071NAnonsynonymous SNVScore=827;Name=lod=3069NA17q21.31NANANANArs175859740.07268370.19980.0010.13980.01130.05110.12040.190D0.999D0.996D0.000D1.000D0.895L1.73T-1.162T0.000T3.41417.535.872.2446.67713.6653.4138653.41386500.1832560.038357NA0.051NA15.8298774
173963335439633354CTexonicKRT35NAnonsynonymous SNVexonicENSG00000197079NAnonsynonymous SNVScore=378;Name=lod=46NA17q21.2Score=834;Name=V$CHOP_01NANANArs124516520.1739220.1720.29560.12250.07410.22190.16350.290.01D0.011B0.022B0.000D0.163P2.685M-1.6D-1.060T0.000T2.09612.964.431.4961.90611.9932.0955272.09552700.1692510.090627NA0.123NA15.8285824
149135700791357007CTexonicRPS6KA5NAnonsynonymous SNVexonicENSG00000100784NAnonsynonymous SNVScore=563;Name=lod=258NA14q32.11NANANANArs559112490.0009984030.002NA0.0043NANA0.00210.00280.04D0.994D0.831P0.000D1.000D1.005L-0.08T-0.481T0.300T529.45.452.5357.78019.2844.9996144.9996140.080.0019770.000681NANANA15.8272564
157421958274219582GAexonicLOXL1NAnonsynonymous SNVexonicENSG00000129038NAnonsynonymous SNVScore=614;Name=lod=419Name=Glaucoma (exfoliation)15q24.1Score=929;Name=V$ZIC3_01Name=Pol2,c-MycName=31NArs38259420.2476040.17690.13990.16860.410.26790.18490.410.2T0.001B0.002B0.007N0.012P1.245L1.43T-0.936T0.000T3.67418.673.171.8182.7005.5083.6735923.67359200.1453020.36097NA0.007CLINSIG=other;CLNDBN=Exfoliation_syndromex2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000015435.1;CLNDSDB=.;CLNDSDBID=.15.8262314
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$ZID_01NANANArs617492310.003194890.006NA0.0086NA0.00410.00440.010.04D0.934P0.208B0.000D0.989D0.55N0.85T-1.066T0.048T2.06912.873.762.4371.6409.7072.0685092.0685090.050.0086050.001589NA0.007NA15.8143284
1216108128216108128TCexonicUSH2ANAnonsynonymous SNVexonicENSG00000042781NAnonsynonymous SNVScore=374;Name=lod=44NA1q41NANANANArs1110333940.002995210.0119NA0.0043NANA0.00380.010.3T0.919P0.375B0.000D1.000D2.125M2.71T-0.994T0.031T3.12616.455.812.2103.79312.0713.1255863.1255860.090.0045370.00227NANACLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041903.1;CLNDSDB=.;CLNDSDBID=.15.8130964
109042965290429652AGexonicLIPFNAnonsynonymous SNVexonicENSG00000182333NAnonsynonymous SNVScore=374;Name=lod=44NA10q23.31NANANANArs8146280.1679310.1740.30560.20460.00980.20760.17590.310D0.995D0.954D0.000D0.000P3.805H0.06T-1.153T0.000T3.66518.635.242.1948.62014.2643.6650123.6650120.010.1755810.045166NA0.087NA15.8078524
108137216681372166CGexonicSFTPA1NAnonsynonymous SNVexonicENSG00000122852NAnonsynonymous SNVScore=363;Name=lod=40NA10q22.3NAName=ZNF263NANArs11364520.005391370.008NA0.00140.01130.00310.00720.0140.16T0.972D0.673P0.015N0.817N0.9L-3.16D0.040D0.612D0.8478.4242.731.8400.9389.1160.847037NA0.10.010940.013845NANANA15.8071934
195569346955693469CTexonicPTPRHNAnonsynonymous SNVexonicENSG00000080031NAnonsynonymous SNVScore=500;Name=lod=143NA19q13.42Score=959;Name=V$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
155253659652536596CTexonicMYO5CNAnonsynonymous SNVexonicENSG00000128833NAnonsynonymous SNVScore=284;Name=lod=19NA15q21.2NAName=ELF1_(SC-631)NANArs557121420.03394570.00990.10020.0375NA0.03370.02240.110.5T0.788P0.126B0.000D1.000D1.855L-3.82D-0.408T0.066T3.92719.985.072.6345.61618.2413.9266673.9266670.460.0096310.003122NA0.022NA15.7914024
11123777302123777302TGexonicOR8D4NAnonsynonymous SNVexonicENSG00000181518NAnonsynonymous SNVScore=284;Name=lod=19NA11q24.1NANANANArs171279470.1865020.18290.09330.14550.28440.1830.17720.270D1.0D0.992D0.001D0.000P4.335H2.48T-1.019T0.000T2.92615.755.672.1437.87214.8892.9264982.92649800.1902770.245459ID=COSM147343;OCCURENCE=1(stomach)0.196NA15.7829564
159014461590144615TCexonicTICRRNAnonsynonymous SNVexonicENSG00000140534NAnonsynonymous SNVScore=412;Name=lod=63NA15q26.1NANANANArs129053870.006589460.02090.0010.0086NA0.00510.0110.020.01D0.972D0.673P0.025N0.906D2.095M1.81T-0.991T0.053T3.24316.874.391.0063.50010.8193.2426453.2426450.020.0195510.003363NANANA15.7818824
134132339741323397CTexonicMRPS31NAnonsynonymous SNVexonicENSG00000102738NAnonsynonymous SNVScore=483;Name=lod=123NA13q14.11Score=951;Name=V$LYF1_01NANANArs135080.1669330.18390.06750.20610.12780.27710.19330.190.02D0.999D0.951D0.000D0.000P1.87L1.47T-1.203T0.000T4.63125.45.172.4066.71917.2604.6314624.6314620.020.1779070.128234NA0.109NA15.7782264
181382639113826391CGexonicMC5RNAnonsynonymous SNVexonicENSG00000176136NAnonsynonymous SNVScore=495;Name=lod=137NA18p11.21Score=793;Name=V$MYOGNF1_01NANANArs22367000.2653750.1720.34330.35730.31540.14830.20710.370.61T1.0D0.996D0.000D0.000P2.51M1.35T-0.949T0.000T3.73618.973.181.0861.79010.5883.7364213.736421NA0.1787210.29596NA0.196NA15.7755124
114823918248239182CAexonicOR4B1NAnonsynonymous SNVexonicENSG00000175619NAnonsynonymous SNVScore=366;Name=lod=41NA11p11.2NANANANArs71300860.2621810.1740.38690.18440.12930.45910.21770.340D0.994D0.952D0.000D0.477P4.1H8.39T-1.047T0.000T2.18513.264.631.3471.09212.4822.1846732.18467300.1698460.140845NA0.196NA15.7717874
1118644524118644524TAexonicSPAG17NAnonsynonymous SNVexonicENSG00000155761NAnonsynonymous SNVScore=343;Name=lod=33NA1p12NANANANArs171854920.1158150.20780.13290.1470.02120.10940.1670.220.01D1.0D0.998D0.000D0.535P2.19M-0.0T-0.261T0.338T3.73518.975.392.1683.05013.0673.7348113.7348110.140.1993020.049705ID=COSM1178400;OCCURENCE=1(prostate)0.116NA15.7592314
1765133296513329GAexonicKIAA0753NAnonsynonymous SNVexonicENSG00000198920NAnonsynonymous SNVScore=409;Name=lod=61NA17p13.1NANAName=7NArs23049770.2717650.34590.35620.38760.03030.35280.35750.410.31T0.979D0.747P0.000D0.000P2.43M-2.02D-1.136T0.000T3.68918.744.151.2752.03711.2923.6888183.68881800.375730.085302NA0.232NA15.7542034
114689310846893108TCexonicLRP4NAnonsynonymous SNVexonicENSG00000134569NAnonsynonymous SNVScore=617;Name=lod=429Name=D-dimer levels11p11.2Score=906;Name=V$AP1_Q2NANANArs23060290.3676120.54170.25690.48410.11420.56240.49420.540.04D0.233B0.3B0.000D0.000P2.015M-3.81D-1.117T0.000T3.63418.485.812.2107.43712.3913.6337393.6337390.160.5432660.194911NA0.478NA15.7541674
114688607746886077ATexonicLRP4NAnonsynonymous SNVexonicENSG00000134569NAnonsynonymous SNVScore=508;Name=lod=155NA11p11.2NANANANArs1179369040.01218050.0408NA0.02020.00150.00410.01860.040.48T0.992D0.707P0.000D1.000D0.695N-2.76D-0.212T0.304T4.26522.35.992.2916.75314.7364.2652484.2652480.010.0220980.004543NANANA15.7518354
2170060603170060603TCexonicLRP2NAnonsynonymous SNVexonicENSG00000081479NAnonsynonymous SNVScore=278;Name=lod=18NA2q31.1NAName=FOXA1_(C-20),FOXA2_(SC-6554),GATA3_(SC-268),ERalpha_aName=4NArs178481690.01717250.03980.01290.01150.00150.02350.02950.040.87T0.514P0.053B0.007N1.000D0.815L-2.73D-0.588T0.166T-0.5011.7053.130.3742.34212.377-0.50059NA0.740.0374420.007036NA0.007CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117548.2;CLNDSDB=.;CLNDSDBID=.15.7265914
7143633157143633157TCexonicOR2F2NAnonsynonymous SNVexonicENSG00000221910NAnonsynonymous SNVScore=265;Name=lod=16NA7q35NANANANArs132352350.1655350.20280.0020.16570.34640.05110.18160.330D1.0D0.999D0.001D0.963P3.185M8.11T-0.948T0.000T1.149.6463.571.6264.37710.4201.140355NA0.010.2236570.333181NA0.239NA15.7252764
193805561238055612ATexonicZNF571NAnonsynonymous SNVexonicENSG00000180479NAnonsynonymous SNVNANA19q13.12NAName=SETDB1,ZNF274,KAP1Name=4NArs48020290.3682110.1680.65280.26370.35550.37220.26130.650.01D1.0D1.0D..0.000P4.02H0.59T-0.888T0.000T3.36417.343.781.5564.73211.5963.3637953.3637950.020.1855810.315252NA0.297NA15.7184524
191008505410085054GAexonicCOL5A3NAnonsynonymous SNVexonicENSG00000080573NAnonsynonymous SNVScore=538;Name=lod=205NA19p13.2Score=920;Name=V$NFKAPPAB50_01NANANArs38157450.1459660.20780.22020.12820.06880.12270.19390.250.62T0.993D0.953D0.000D0.030P1.075L-3.8D-1.025T0.001T4.04720.84.892.2466.79415.5334.0466284.0466280.150.2266280.090331NA0.145NA15.7050054
187217608372176083TCexonicCNDP2NAnonsynonymous SNVexonicENSG00000133313NAnonsynonymous SNVScore=437;Name=lod=80NA18q22.3NAName=TAL1_(SC-12984),GATA2_(CG2-96)NANArs22781610.2158550.18990.30060.31560.08020.26790.22690.30.01D0.535P0.778P0.000D0.000P4.02H0.61T-1.136T0.000T2.11913.045.572.1147.62915.7432.1191432.1191430.010.223140.118248ID=COSM148445;OCCURENCE=1(stomach)0.225NA15.6933934
223088852730888527CTexonicSEC14L4NAnonsynonymous SNVexonicENSG00000133488NAnonsynonymous SNVScore=569;Name=lod=275NA22q12.2Score=831;Name=V$HNF4_01NANANArs177385400.1471650.22960.03970.28240.10360.1360.19380.230.05D1.0D0.91D0.000D0.000P1.74L-1.05T-1.106T0.000T2.78315.272.761.1991.80411.4612.7830852.7830850.050.2251160.123014NA0.065NA15.6848174
173328666433286664AGexonicCCT6BNAnonsynonymous SNVexonicENSG00000132141NAnonsynonymous SNVScore=604;Name=lod=379NA17q12NANANANArs22305520.2909350.20180.52780.29680.12250.3620.24470.560D0.999D0.979D0.000D0.000P4.555H-1.39T-1.028T0.000T4.37923.14.291.9098.20811.7014.3793664.37936600.2126740.124149NA0.232NA15.6741594
6100966006100966006CTexonicASCC3NAnonsynonymous SNVexonicENSG00000112249NAnonsynonymous SNVScore=580;Name=lod=303NA6q16.3NANANANArs32135420.1240020.05070.15970.10810.18910.08590.07820.160.03D0.975D0.819P0.000D0.000P2.86M0.09T-0.243T0.342T4.32522.74.932.4333.94218.5054.3249124.3249120.030.0462790.152065NA0.138NA15.6581544
133926648439266484GAexonicFREM2NAnonsynonymous SNVexonicENSG00000150893NAnonsynonymous SNVScore=321;Name=lod=27NA13q13.3NANANANArs18684630.1212060.05470.2460.05760.0530.19840.08080.260.02D0.998D0.791P0.000D0.000P2.48M1.17T-1.109T0.000T4.29522.54.551.2845.48114.1224.2954514.2954510.010.050930.043123NA0.08NA15.6469034
1118657952118657952CTexonicSPAG17NAnonsynonymous SNVexonicENSG00000155761NAnonsynonymous SNVScore=289;Name=lod=20NA1p12Score=799;Name=V$E2F_01NANANArs121333810.106030.05860.27280.03460.00380.17180.0740.230D0.681P0.102B0.000D0.995P2.395M-0.32T-0.614T0.168T1.86812.25.021.5222.49614.1701.8677421.8677420.070.0545350.015213NA0.022NA15.6461984
145775556457755564GAexonicAP5M1NAnonsynonymous SNVexonicENSG00000053770NAnonsynonymous SNVScore=600;Name=lod=366NA14q22.3Score=845;Name=V$TST1_01NANANArs357599760.0343450.0736NA0.12540.00230.00820.06120.130.01D0.773P0.321B0.000D1.000D1.79L1.4T-1.187T0.002T5.107325.632.8147.05420.0535.1065535.1065530.020.0709950.015441NA0.022NA15.6275384
11116662407116662407GCexonicAPOA5NAnonsynonymous SNVexonicENSG00000110243NAnonsynonymous SNVNANA11q23.3NANAName=2NArs31355060.05571090.0676NA0.11670.06730.04190.0790.090D0.993D0.823P0.827N1.000N2.075M-0.46T-0.839T0.048T4.00720.55.412.8262.79614.5774.0066334.00663300.0649440.061109NA0.029CLINSIG=other;CLNDBN=Hypertriglyceridemiax2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000004653.1;CLNDSDB=.;CLNDSDBID=.15.6217894
193351751533517515CTexonicRHPN2NAnonsynonymous SNVexonicENSG00000131941NAnonsynonymous SNVScore=629;Name=lod=481NA19q13.11NANANANArs286263080.1162140.05960.15080.07350.05750.24850.09770.140.04D0.986D0.624P0.000D0.000P2.11M2.13T-1.066T0.001T2.36713.872.820.9532.82011.6872.3665552.3665550.040.0543020.065138NA0.072NA15.6217314
2118743630118743630GAexonicCCDC93NAnonsynonymous SNVexonicENSG00000125633NAnonsynonymous SNVScore=444;Name=lod=85NA2q14.1NANAName=3NArs339757080.04073480.0855NA0.07060.04240.01330.05680.090.01D0.994D0.79P0.002N0.000P2.045M0.83T-0.894T0.013T4.19121.74.812.4973.98013.2514.1906774.19067700.0739530.047208NA0.029NA15.6170804
177620096576200965CTexonicAFMIDNAnonsynonymous SNVexonicENSG00000183077NAnonsynonymous SNVScore=304;Name=lod=23NA17q25.3NANANANArs728978430.03913740.08350.0010.05330.00680.06650.06560.10.02D0.999D0.877P0.357N1.000D2.295M2.7T-1.224T0.003T3.57818.233.891.2244.62212.4913.578453.5784500.0983720.021562NA0.051NA15.5858614
X135956462135956462GCexonicRBMXNAnonsynonymous SNVexonicENSG00000147274NAnonsynonymous SNVScore=861;Name=lod=4226NAXq26.3Score=878;Name=V$NKX22_01Name=Pol2-4H8NANArs74463481NANANANANANA0.27190.0430.01D0.889P0.319B0.000U0.000P1.845L-1.47T0.063D0.412T1.82412.064.541.1684.69313.8401.8240571.8240570.04NANAID=COSM1636400;OCCURENCE=1(liver)0.065NA15.5614334
1634059863405986GAexonicOR2C1NAnonsynonymous SNVexonicENSG00000168158NAnonsynonymous SNVScore=336;Name=lod=31NA16p13.3NANANANArs12187620.2525960.26140.14290.24350.33890.24640.26440.370.02D0.998D0.922D0.001D0.005P3.72H5.96T-0.963T0.000T2.84215.474.352.2417.44914.4132.8417692.8417690.010.2748840.345926NA0.384NA15.5326494
6133045902133045902AGncRNA_exonicVNN3NANAexonicENSG00000093134NAnonsynonymous SNVScore=363;Name=lod=40NA6q23.2NANANANArs22947590.2693690.330.22320.41350.14670.3180.31680.40.42T1.0D0.979D0.000D0.000P..-2.27D0.245D0.673D3.65818.65.12.0494.68615.1773.6582743.65827400.3206930.166667NA0.203NA15.532507
11124294349124294349CAexonicOR8B4NAnonsynonymous SNVexonicENSG00000198657NAnonsynonymous SNVScore=251;Name=lod=14NA11q24.2NAName=MafK_(ab50322),MafF_(M8194)NANArs71165750.1607430.08750.19840.1110.26480.0920.11850.280.01D0.529P0.443B0.000D0.000P3.5M8.52T-0.903T0.000T1.64211.454.622.5642.95817.6031.6419591.6419590.010.1070020.223989NA0.167NA15.5203314
7100371417100371417GAexonicZANNAunknownexonicENSG00000146839NAnonsynonymous SNVScore=340;Name=lod=32NA7q22.1NANANANArs126730410.1074280.03680.10120.05620.15280.16160.07540.160D1.0D0.999D0.000D0.354P3.435M0.11T-1.124T0.083T2.87415.584.562.4695.89613.5392.8743272.874327NA0.0377870.145441NA0.036NA15.5166797
174072202940722029AGexonicMLXNAnonsynonymous SNVexonicENSG00000108788NAnonsynonymous SNVScore=587;Name=lod=325NA17q21.2NANAName=8NArs6652680.3214860.26540.43550.20750.19520.51330.29030.420.35T1.0D0.982D0.000D0.000P2.045M-1.08T-1.047T0.000T2.72815.084.651.0147.52511.4372.727692.727690.050.2732560.199047NA0.391NA15.5043774
81825810318258103GAexonicNAT2NAnonsynonymous SNVexonicENSG00000156006NAnonsynonymous SNVScore=369;Name=lod=42NA8p22NANANANArs17999300.2649760.28230.2560.17150.23750.35990.27730.290.08T1.0D0.991D0.000D0.002P2.33M4.43T-0.935T0.000T2.20413.332.511.7061.2918.6212.2044742.2044740.080.2903490.265774NA0.261CLINSIG=drug-response;CLNDBN=Slow_acetylator_due_to_N-acetyltransferase_enzyme_variant;CLNREVSTAT=single;CLNACC=RCV000000758.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C1827377:243400:42507900515.4833844
17935736079357360GCexonicELTD1NAnonsynonymous SNVexonicENSG00000162618NAnonsynonymous SNVScore=452;Name=lod=92NA1p31.1NANAName=2NArs22759020.2527960.30910.23120.20460.29050.20040.26630.31..0.999D0.992D0.000D0.000P2.84M0.78T-0.409T0.316T4.84327.65.592.6129.83519.5834.8431994.8431990.020.2941820.260406NA0.196NA15.4637514
4187004074187004074CTexonicTLR3NAnonsynonymous SNVexonicENSG00000164342NAnonsynonymous SNVScore=426;Name=lod=72NA4q35.1NANANANArs37752910.2318290.32410.32840.30550.02650.26280.27120.320.02D1.0D1.0D0.000N0.000P4.52H0.95T-1.355T0.000T2.88815.624.951.4584.03114.7982.8881562.88815600.2902330.071039ID=COSM149771;OCCURENCE=1(stomach)0.21CLINSIG=pathogenic;CLNDBN=Congenital_human_immunodeficiency_virus;CLNREVSTAT=single;CLNACC=RCV000034357.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1836230:60942315.4478004
201851337218513372CTexonicSEC23BNAnonsynonymous SNVexonicENSG00000101310NAnonsynonymous SNVScore=478;Name=lod=117NA20p11.23NANANANArs178076730.06130190.13020.0030.10950.00610.0910.11220.140.01D0.5P0.382B0.000D0.000P3.13M-0.91T-0.774T0.009T3.86119.624.752.6317.10917.2703.8608723.8608720.010.1436050.030186NA0.022CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081399.1;CLNDSDB=.;CLNDSDBID=.15.4473284
175644829756448297CTexonicRNF43NAnonsynonymous SNVexonicENSG00000108375NAnonsynonymous SNVScore=527;Name=lod=185Name=Pancreatic cancer17q22Score=794;Name=V$PAX5_01NANANArs22572050.2262380.11630.3730.10090.18310.33540.16410.350D1.0D0.902P0.023N0.000P0.695N0.91T-0.981T0.000T3.86319.625.452.5552.8187.9903.862563.8625600.1088370.185202NA0.181NA15.4440964
162044105320441053CGexonicACSM5NAnonsynonymous SNVexonicENSG00000183549NAnonsynonymous SNVScore=448;Name=lod=88NA16p12.3Score=789;Name=V$PAX2_01NANANArs80623440.4390970.28130.57740.20460.68460.29350.32380.670D0.994D0.94D0.001N0.000P2.15M0.87T-0.906T0.000T3.09816.354.442.1496.06816.2063.0981093.09810900.2945350.60985NA0.493NA15.4336984
223887746138877461TGexonicKDELR3NAnonsynonymous SNVexonicENSG00000100196NAnonsynonymous SNVScore=641;Name=lod=539NA22q13.1NAName=Pol2,Pol2(phosphoS2),Pol2-4H8Name=44NArs120040.2551920.30620.35420.19740.16570.26280.28840.380.03D0.823P0.568P0.001N0.000P2.56M-0.96T-1.143T0.000T3.19416.694.651.9507.86814.2263.1939453.19394500.3062790.187018NA0.261NA15.4324544
10126715436126715436CTexonicCTBP2NAnonsynonymous SNVexonicENSG00000175029NAnonsynonymous SNVScore=333;Name=lod=30NA10q26.13NANANANArs37814110.1220050.13520.04560.28960.10890.08590.13950.240D0.999D0.873P0.000D0.000P..-2.27D-1.254T0.001T4.2522.13.962.4233.85914.1734.2496594.24965900.1310470.101906NA0.101NA15.4275864
123290823732908237CAexonicYARS2NAnonsynonymous SNVexonicENSG00000139131NAnonsynonymous SNVScore=566;Name=lod=266NA12p11.21NAName=USF-1,CTCF,AP-2alpha,CCNT2,CTCF_(C-20),Znf143_(16618-1-AP),Pol2,c-Myc,Pol2(phosphoS2),PAX5-C20,HEY1,GATA-2,YY1,Pol2-4H8,AP-2gamma,ELF1_(SC-631),TBP,BCLAF1_(M33-P5B11),Max,Sin3Ak-20,PU.1,GABP,GTF2F1_(RAP-74),TCF12,PAX5-N19,BAF155,ZNF263,TAF1,YY1_(C-20),Rad21,CTCF_(SC-5916),RXRA,SMC3_(ab9263)Name=147NArs115394450.1265970.1620.08330.09370.1770.090.12590.170.01D0.617P0.188B0.000D0.000P-0.255N0.72T-1.067T0.000T2.97815.934.21.3844.21111.5882.978492.978490.210.143140.162052NA0.08NA15.4022934
56869594068695940TGexonicRAD17NAnonsynonymous SNVexonicENSG00000152942NAnonsynonymous SNVScore=603;Name=lod=375NA5q13.2NANANANArs10450510.2547920.32310.31550.30120.04460.37320.29920.340D1.0D1.0D0.000D0.000P2.05M1.79T-1.039T0.000T4.29122.45.732.2037.24815.0604.291214.2912100.3217440.083976NA0.225NA15.3892894
82433967924339679GAexonicADAM7NAnonsynonymous SNVexonicENSG00000069206NAnonsynonymous SNVScore=444;Name=lod=85NA8p21.2NANANANArs132556940.2613820.30320.18750.4280.10060.39370.32610.410D1.0D1.0D0.000D0.000P3.595H-0.7T-1.131T0.000T3.35717.315.632.6524.06415.1763.3570263.35702600.3295720.127099NA0.181NA15.3744614
8110413762110413762TCexonicPKHD1L1NAnonsynonymous SNVexonicENSG00000205038NAnonsynonymous SNVScore=576;Name=lod=291NA8q23.1Score=768;Name=V$MEF2_01NANANArs9643070.31230.31110.39290.47410.14830.33740.33090.420D0.998D0.972D0.002N0.997P1.955M2.03T-0.921T0.000T3.69818.785.752.1935.61414.0073.6976573.69765700.3190290.188974NA0.29NA15.3723044
38169813081698130TCexonicGBE1NAnonsynonymous SNVexonicENSG00000114480NAnonsynonymous SNVScore=710;Name=lod=1022NA3p12.2Score=856;Name=V$HAND1E47_01NANANArs22295190.3214860.30520.44250.30260.25790.31290.37460.440.02D0.028B0.009B0.004N0.423P2.91M-2.15D-0.925T0.000T2.27313.564.812.2553.4773.4752.2727622.2727620.030.3005420.276631NA0.326CLINSIG=other;CLNDBN=Malignant_melanoma;CLNREVSTAT=not;CLNACC=RCV000066196.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:209200315.3529914
162860365528603655TGexonicSULT1A2NAnonsynonymous SNVexonicENSG00000197165NAnonsynonymous SNVScore=454;Name=lod=93NA16p11.2NANANANArs10594910.224840.31710.07440.39770.22090.16770.31260.360.01D1.0D1.0D0.000D0.022P2.82M4.45T-0.944T0.000T3.9520.24.981.8647.95712.6593.9500883.9500880.010.3608140.246472ID=COSM1579553;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)0.174NA15.3428194
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
1144930940144930940TCexonicPDE4DIPNAnonsynonymous SNVexonicENSG00000178104NAnonsynonymous SNVScore=265;Name=lod=16NA1q21.1Score=844;Name=V$FAC1_01Name=KAP1Name=134NArs2147326NANANANANANA0.50.51T0.763P0.311B..1.000D1.7L2.72T-1.113T0.015T0.8928.6255.532.1003.06113.6040.89225NA1NANANA0.5NA15.3333334
63881066338810663ACexonicDNAH8NAnonsynonymous SNVexonicENSG00000124721NAnonsynonymous SNVScore=593;Name=lod=343NA6p21.2NANANANANANANANANANANANANA0.04D0.1B0.279B0.001D0.995N3.18M0.05T-0.656T0.242T1.99812.645.122.0476.1769.7211.9983871.9983870.02NANANANANA15.3333334
173856073138560731CTexonicTOP2ANAnonsynonymous SNVexonicENSG00000131747NAnonsynonymous SNVScore=459;Name=lod=98NA17q21.2NANANANANANANANANANANA0.00004198NA0.01D0.273B0.23B0.000D1.000D1.745L1.93T-1.046T0.090T4.06420.95.52.5927.76019.3834.0643834.0643830.03NANANANANA15.3332914
2160706630160706630GAexonicLY75,LY75-CD302NAnonsynonymous SNVexonicENSG00000054219,ENSG00000248672NAnonsynonymous SNVScore=431;Name=lod=75NA2q24.2Score=949;Name=V$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
2228102723228102723GCexonicCOL4A3NAnonsynonymous SNVexonicENSG00000169031NAnonsynonymous SNVNANA2q36.3NAName=FOXA1_(SC-101058)NANArs134242430.2302320.35390.05160.26370.320.14210.28840.370.01D1.0D0.997D0.008N1.000P3.85H-4.63D-1.817T0.000T3.00516.024.311.3151.2459.7843.0048563.00485600.3712960.306486NA0.217NA15.3197374
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$TCF11MAFG_01NANANArs1489788000.001797120.008NANA0.0008NA0.0050.010.08T0.965D0.335B0.022N0.951D2.22M3.44T-1.063T0.016T3.22516.814.752.6964.28210.2633.2245123.2245120.190.0087210.000681ID=COSM908048;OCCURENCE=1(endometrium)NANA15.3116124
173893587638935876CTexonicKRT27NAnonsynonymous SNVexonicENSG00000171446NAnonsynonymous SNVScore=371;Name=lod=43NA17q21.2NAName=E2F6_(H-50),TBPName=12NArs175585320.1613420.18490.06250.15710.16110.24230.16980.190.08T0.525P0.177B0.000D0.000P0.935L-2.48D-0.971T0.002T4.40323.35.522.7542.48218.7774.4033294.4033290.190.1708140.173173NA0.159NA15.3078194
133362939333629393CTexonicKLNAnonsynonymous SNVexonicENSG00000133116NAnonsynonymous SNVScore=412;Name=lod=63NA13q13.1NANANANArs37524720.0389377NA0.08630.06920.0280.02350.02590.070.85T1.0D0.996D0.000D1.000D1.155L1.62T-1.140T0.014T3.70718.836.032.8617.41820.5573.7073443.7073440.010.0011630.009986NA0.022NA15.3062704
91587458515874585TGexonicCCDC171NAnonsynonymous SNVexonicENSG00000164989NAnonsynonymous SNVScore=812;Name=lod=2661NA9p22.3NANANANArs1498148940.006789140.0109NA0.0058NA0.01940.00950.010.12T1.0D0.999D0.000D1.000D0.805L2.14T-0.907T0.142T3.60218.345.742.2055.17216.1053.6021893.60218900.0070930.001135ID=COSM1235977,COSM1235976;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)NANA15.3058404
7129663496129663496CTexonicZC3HC1NAnonsynonymous SNVexonicENSG00000091732NAnonsynonymous SNVScore=457;Name=lod=96Name=Coronary heart disease7q32.2Score=809;Name=V$ER_Q6NANANArs115569240.1557510.37670.04960.20890.02650.17480.27290.380.48T1.0D0.959D0.000D0.000P1.79L1.28T-0.984T0.000T4.49724.15.492.5902.56716.0964.497154.4971500.3825580.08148NA0.145NA15.3011754
69705855397058553AGexonicFHL5NAnonsynonymous SNVexonicENSG00000112214NAnonsynonymous SNVScore=439;Name=lod=81NA6q16.1NANANANArs22736210.3981630.35190.35220.30260.54990.35580.34850.560.02D0.051B0.12B0.007N0.127P2.955M-2.32D0.066D0.573D2.95815.864.71.0194.67013.1272.958372.9583700.3344190.506128NA0.449NA15.2985144
23829813938298139TCexonicCYP1B1NAnonsynonymous SNVexonicENSG00000138061NAnonsynonymous SNVScore=502;Name=lod=146NA2p22.2Score=953;Name=V$FOXO1_01NAName=9NArs18004400.09964060.19580.0050.13110.00680.20140.15470.20.04D0.596P0.306B0.000D0.000P1.725L-0.22T-1.072T0.000T3.65118.565.952.2796.03514.3763.6512563.6512560.010.1869770.033364ID=COSM1408011;OCCURENCE=2(large_intestine)0.109NA15.2958564
177326301273263012CTexonicMIF4GDNAnonsynonymous SNVexonicENSG00000125457NAnonsynonymous SNVScore=611;Name=lod=405NA17q25.1Score=925;Name=V$LMO2COM_01Name=Pol2-4H8,Pol2Name=8NArs617393240.1034350.0010.09920.0720.21330.08690.03640.250.59T0.896P0.519P..0.000P1.78L2.28T-0.942T0.000T3.25616.924.761.4287.45014.6903.2556353.2556350.040.0027910.154789NA0.109NA15.2931424
4187518041187518041TCexonicFAT1NAnonsynonymous SNVexonicENSG00000083857NAnonsynonymous SNVScore=395;Name=lod=54NA4q35.2NANANANArs727162440.005990420.0169NA0.01440.00080.0020.01070.020.26T1.0D0.998D0.000D1.000D1.21L-0.55T-0.476T0.265T2.4414.125.232.2064.02915.2872.4395352.4395350.090.0142680.001597NA0.087NA15.2914654
1634586093458609GAexonicZNF174NAnonsynonymous SNVexonicENSG00000103343NAnonsynonymous SNVNANA16p13.3NAName=SETDB1,MafK_(ab50322),KAP1,MafK_(SC-477)NANArs116401770.003993610.0149NA0.0043NA0.0020.01160.020D1.0D0.982D0.021N1.000D0.695N5.47T-0.543T0.004T2.08612.934.112.6042.17812.1512.0863682.0863680.330.0177910.004779NANANA15.2890424
118666329686663296GAexonicFZD4NAnonsynonymous SNVexonicENSG00000174804NAnonsynonymous SNVScore=581;Name=lod=306NA11q14.2Score=900;Name=V$CEBPB_01NAName=50NArs617353030.01477640.0109NA0.02450.00760.03680.01660.022..0.146B0.024B0.000D1.000D0N-1.46T-0.771T0.156T2.89815.665.822.7606.39920.1002.8978482.8978480.020.0180270.008632NA0.014NA15.2878064
3136664737136664737CTexonicNCK1NAnonsynonymous SNVexonicENSG00000158092NAnonsynonymous SNVScore=726;Name=lod=1195NA3q22.3Score=686;Name=V$PPARG_02NANANArs133204850.008586260.0179NA0.02740.00230.00310.01170.030.06T0.415B0.119B0.000D1.000D1.995M-0.32T-0.751T0.120T4.83627.56.162.9374.45118.3544.8361654.8361650.050.0166280.002724NA0.014NA15.2871054
114759932247599322TCexonicKBTBD4NAnonsynonymous SNVexonicENSG00000123444,ENSG00000231880NAnonsynonymous SNVScore=715;Name=lod=1078NA11p11.2NAName=eGFP-GATA2,ZNF274Name=27NArs753524630.005191690.0219NA0.0029NA0.0020.0120.020.06T0.271B0.148B0.000D1.000D1.1L-0.5T-0.733T0.133T3.0616.215.432.0477.64715.4683.0599693.0599690.010.016170.004089NA0.007NA15.2832634
5112178795112178795GAexonicAPCNAnonsynonymous SNVexonicENSG00000134982NAnonsynonymous SNVScore=366;Name=lod=41NA5q22.2NANANANArs22299950.008386580.0209NA0.00430.00080.01740.01990.02..0.234B0.156B0.000D0.995D0N-1.71D-0.723T0.172T2.88615.625.952.8252.61611.3092.88622.88620.230.020.00386NANACLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified|Adenomatous_polyposis_coli;CLNREVSTAT=mult|single|single;CLNACC=RCV000034399.2|RCV000077994.2|RCV000119135.1;CLNDSDB=.|.|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=.|.|NBK1345:CN074282:175100:ORPHA733:7092100715.2725334
16745043167450431AGexonicMIER1NAnonsynonymous SNVexonicENSG00000198160NAnonsynonymous SNVScore=498;Name=lod=141NA1p31.3NAName=BATF,NFKB,BCL11AName=12NArs171295630.006589460.0209NA0.013NA0.00310.01490.0260.2T0.156B0.016B0.000D1.000D0.55N0.53T-1.073T0.055T2.62814.755.552.2364.30214.5822.6282862.6282860.010.0260330.004355NANANA15.2715004
175882461758824617GAexonicBCAS3NAnonsynonymous SNVexonicENSG00000141376NAnonsynonymous SNVScore=584;Name=lod=315NA17q23.2NANANANArs344317140.00918530.02290.0020.01730.00080.00820.01910.030.15T0.974D0.969D0.000D1.000D1.205L3.24T-1.194T0.018T3.35717.315.472.5856.85914.8833.3567553.3567550.150.024830.007547NANANA15.2665034
122531148925311489GTexonicCASC1NAnonsynonymous SNVexonicENSG00000118307NAnonsynonymous SNVScore=401;Name=lod=57NA12p12.1NANANANArs108424960.2537940.37570.19250.34870.12930.29240.33210.370.02D1.0D0.999D0.000D0.000P2.125M1.99T-1.027T0.000T3.40217.495.422.5353.83614.7263.4015563.40155600.361680.154562NA0.254NA15.2638534
1920397272039727CTexonicMKNK2NAnonsynonymous SNVexonicENSG00000099875NAnonsynonymous SNVScore=618;Name=lod=432NA19p13.3Score=730;Name=V$LUN1_01Name=Pol2-4H8Name=5NArs344756380.01078270.0338NA0.0159NA0.00920.01920.030.44T0.342B0.027B0.015N1.000D0.895L-0.22T-1.060T0.046T2.6414.792.491.9802.7003.8162.6395432.6395430.50.0245460.003858NA0.014NA15.2557874
175634810656348106TCexonicMPONAnonsynonymous SNVexonicENSG00000005381NAnonsynonymous SNVScore=462;Name=lod=101NA17q22Score=761;Name=V$MEF2_01Name=GABP,ZEB1_(SC-25388),CTCF_(SC-5916),CTCF,ELF1_(SC-631)Name=11NArs27590.01337860.0298NA0.02450.01060.00610.02470.0431T0.118B0.117B0.000D0.995D-0.19N-0.15T-1.038T0.024T0.878.5284.242.1370.61410.0340.870326NA0.520.0286050.010894NA0.029NA15.2502284
204235516942355169GCexonicGTSF1LNAnonsynonymous SNVexonicENSG00000124196NAnonsynonymous SNVScore=522;Name=lod=177NA20q13.12NANANANArs178260380.0143770.0328NA0.0360.00150.01230.02150.040.06T1.0D0.998D0.001D0.869D2.6M-0.18T-0.474T0.141T2.3813.922.741.1370.7817.1102.3802392.3802390.010.0303490.006355NA0.014NA15.2486844
630127783012778GAexonicNQO2NAnonsynonymous SNVexonicENSG00000124588NAnonsynonymous SNVScore=340;Name=lod=32NA6p25.2NANANANArs173001410.01777160.0268NA0.01010.00150.05420.02940.03..1.0D0.98D0.000D0.997D3.055M2.94T-0.929T0.079T2.52214.394.480.7525.15117.6522.5216752.52167500.0297670.004312NANANA15.2473664
649965434996543CTexonicRPP40NAnonsynonymous SNVexonicENSG00000124787NAnonsynonymous SNVScore=325;Name=lod=28NA6p25.1Score=814;Name=V$PAX5_01NANANArs623851180.04652560.02780.03870.0360.06730.05320.03430.0650.5T0.074B0.034B0.000D0.986D2.48M0.94T-1.022T0.070T1.41210.664.451.2232.16914.3981.4120491.4120490.010.034070.064458NA0.036NA15.2371634
3184099050184099050CTexonicCHRDNAnonsynonymous SNVexonicENSG00000090539NAnonsynonymous SNVScore=537;Name=lod=203NA3q27.1Score=683;Name=V$P53_01Name=E2F6_(H-50)Name=7NArs340957240.03893770.03780.0020.01730.0930.02040.03350.110.43T0.004B0.014B0.001D1.000D0.205N2.83T-0.888T0.000T-0.143.3154.31.1690.4627.737-0.140029NA0.720.0339770.093097NA0.051NA15.2280564
12932001329320013GAexonicEPB41NAnonsynonymous SNVexonicENSG00000159023NAnonsynonymous SNVScore=560;Name=lod=252NA1p35.3Score=691;Name=V$P53_01Name=CEBPBNANArs1116427500.01557510.0408NA0.03460.00230.01020.03410.051..0.896P0.87P0.008N1.000D1.735L-1.0T-0.313T0.245T3.29317.064.311.1894.67112.4263.2932883.29328800.0513950.011348NA0.094NA15.2070384
165831860458318604TCexonicPRSS54NAnonsynonymous SNVexonicENSG00000103023NAnonsynonymous SNVScore=519;Name=lod=172NA16q21Score=901;Name=V$OCT1_06Name=Egr-1,USF-1Name=7NArs38158030.5369410.55370.39290.37180.7670.47440.52090.740.46T0.767P0.262B0.000D0.512P1.92M0.29T-0.948T0.000T1.1899.8323.281.0461.8937.4581.188593NA0.120.5582560.742721ID=COSM148088;OCCURENCE=1(stomach)0.58NA15.2004774
222622245426222454CTexonicMYO18BNAnonsynonymous SNVexonicENSG00000133454NAnonsynonymous SNVScore=361;Name=lod=39NA22q12.1Score=850;Name=V$ZID_01NANANArs96249090.1409740.2386NA0.18010.18380.10020.18510.250.07T0.982D0.842P0.000D0.001P1.78L-2.32D-1.289T0.000T4.39823.34.261.9234.54115.2484.3978184.39781800.2171240.18932NA0.203NA15.1925094
109152254891522548AGexonicKIF20BNAnonsynonymous SNVexonicENSG00000138182NAnonsynonymous SNVScore=459;Name=lod=98NA10q23.31Score=963;Name=V$NKX25_02NANANArs343544930.106430.22760.0010.18010.00980.16870.18450.230D0.971D0.814P0.001N0.000P2.095M0.24T-1.172T0.000T5.01929.66.062.3248.14715.5925.0193225.01932200.2339530.051748NA0.145NA15.1872804
172850517428505174ACexonicNSRP1NAnonsynonymous SNVexonicENSG00000126653NAnonsynonymous SNVScore=633;Name=lod=497NA17q11.2NANANANArs115449450.02116610.06660.0010.0360.00380.00820.03690.060.02D0.992D0.938D0.000D1.000D1.33L0.83T-1.045T0.030T3.72318.913.90.8293.2099.4933.7232393.7232390.010.05690.011575NA0.014NA15.1729334
121016337510163375CAexonicCLEC12BNAnonsynonymous SNVexonicENSG00000256660NAnonsynonymous SNVScore=395;Name=lod=54NA12p13.2NANANANArs13590820.31250.42450.15380.37750.38960.21060.35270.430.02D1.0D0.998D0.000D0.000P2.125M4.73T-0.857T0.000T3.54318.074.882.6521.81814.2693.5427623.5427620.280.3844190.373808NA0.413NA15.1717144
142084695020846950CTexonicTEP1NAnonsynonymous SNVexonicENSG00000129566NAnonsynonymous SNVScore=448;Name=lod=88NA14q11.2Score=762;Name=V$YY1_02NANANArs80228050.03075080.0586NA0.03030.0030.07160.04950.070.26T1.0D0.96D0.000D0.990D1.135L0.29T-1.041T0.028T4.2922.44.872.7240.6019.7354.2904624.2904620.170.0577910.010894NA0.007NA15.1674424
42512570325125703CGexonicSEPSECSNAnonsynonymous SNVexonicENSG00000109618NAnonsynonymous SNVScore=557;Name=lod=244NA4p15.2NANANANArs23025660.112220.05670.11010.10950.16260.10530.06680.150.19T0.995D0.912D0.000D0.000P2.395M-1.64D-0.825T0.008T3.36217.331.050.2441.0452.8883.3619943.3619940.110.0457080.137767NA0.13CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118326.1;CLNDSDB=.;CLNDSDBID=.15.1641254
1612727501272750GAexonicTPSG1NAnonsynonymous SNVexonicENSG00000116176NAnonsynonymous SNVNANA16p13.3NANANANArs1138566250.02715650.0557NA0.0375NA0.05520.05350.0650D0.999D0.939D..0.573N3.67H-3.43D0.025D0.512D2.9715.92.470.5190.77410.5312.9695252.9695250.010.0651160.010687ID=COSM434651;OCCURENCE=1(breast)0.043NA15.1590174
173961911539619115GAexonicKRT32NAnonsynonymous SNVexonicENSG00000108759NAnonsynonymous SNVScore=412;Name=lod=63NA17q21.2NANANANArs20715630.368810.42450.33630.4020.42590.24440.37540.430.01D1.0D1.0D0.001N0.285P3.625H-2.95D-1.530T0.000T3.40117.485.072.4932.38017.8013.4005133.4005130.010.3751160.410576NA0.413NA15.1583174
142453491624534916GTexonicLRRC16BNAnonsynonymous SNVexonicENSG00000186648NAnonsynonymous SNVScore=366;Name=lod=41NA14q11.2NANANANArs793283560.01956870.06160.0030.02450.0030.01230.04760.0670.01D1.0D0.998D0.005N1.000D0.55N2.25T-1.150T0.006T3.64518.544.511.2721.8069.7563.6452093.6452090.010.0667440.014299NA0.007NA15.1573894
204435262044352620GAexonicSPINT4NAnonsynonymous SNVexonicENSG00000149651NAnonsynonymous SNVScore=381;Name=lod=47NA20q13.12Score=887;Name=V$RFX1_02NANANArs60176670.5197680.38570.47420.31990.72310.57160.42620.740D1.0D1.0D0.000D0.296P..-0.36T-0.881T0.000T2.92715.754.472.4863.97612.8512.9269932.92699300.3747670.641171NA0.442NA15.1466664
233922953392295AGexonicTRAPPC12NAnonsynonymous SNVexonicENSG00000171853NAnonsynonymous SNVScore=556;Name=lod=242NA2p25.3NANANANArs116862120.4678510.40060.60810.31410.41750.56950.41440.610.02D0.998D0.969D0.000D0.000P2.215M0.24T-0.854T0.000T4.8928.15.072.2488.56814.4554.8897284.88972800.374070.412846ID=COSM442851;OCCURENCE=2(breast)0.493NA15.1442634
2197521750197521750GAexonicCCDC150NAnonsynonymous SNVexonicENSG00000144395NAnonsynonymous SNVScore=474;Name=lod=113NA2q33.1NANANANArs341336360.1054310.05960.02380.06340.19290.14830.07880.160.4T1.0D0.994D0.000D0.000P1.935M1.54T-1.093T0.001T2.17913.243.881.1994.20512.5942.1787772.17877700.0533090.160051ID=COSM149033;OCCURENCE=1(stomach)0.188NA15.1416244
9104152846104152846GAexonicMRPL50NAnonsynonymous SNVexonicENSG00000136897NAnonsynonymous SNVScore=525;Name=lod=181NA9q31.1NANANANArs81310.06549520.07360.11110.03750.00380.11350.06580.110.05D0.999D0.972D0.007N0.000P2.215M0.8T-1.008T0.009T3.68818.744.962.7931.27915.7753.6875913.6875910.070.0647980.011802NA0.065NA15.1291354
3167068256167068256TAexonicZBBXNAnonsynonymous SNVexonicENSG00000169064NAnonsynonymous SNVScore=542;Name=lod=212NA3q26.1NAName=CTCF_(SC-5916),SMC3_(ab9263),Rad21,CTCFName=52NArs46197840.2551920.40760.17560.33430.07560.36710.37250.430.01D0.997D0.972D0.089U0.033P1.1L1.54T-0.920T0.000T4.06620.95.542.1012.67413.6404.0657754.0657750.010.4263620.130867NA0.326NA15.1268714
165666081656660816GAexonicMT1ENAnonsynonymous SNVexonicENSG00000169715NAnonsynonymous SNVScore=532;Name=lod=194NA16q12.2NAName=Pol2NANArs728184170.03753990.0775NA0.06480.00080.06540.06910.080.02D0.854P0.746P..1.000D..2.89T-1.162T0.003T1.95512.492.391.3344.5966.5451.9550211.9550210.020.0762790.015469NA0.123NA15.1104544
142044402620444026TGexonicOR4K15NAnonsynonymous SNVexonicENSG00000169488NAnonsynonymous SNVScore=243;Name=lod=13NA14q11.2NANANANArs38615130.2182510.22270.1230.17150.21410.35070.23690.270.01D0.998D0.872P0.000D0.976P3.31M5.82T-0.992T0.000T2.82315.43.81.5781.74310.5362.8232822.8232820.010.2655890.240127NA0.196NA15.1081444
2233243586233243586CTexonicALPPNAnonsynonymous SNVexonicENSG00000163283NAnonsynonymous SNVNANA2q37.1NANANANArs11303350.08446490.07260.21530.05330.0250.06440.08190.210.03D1.0D0.994D0.000D0.148P2.815M-1.75D-1.033T0.002T2.4614.181.81.299-0.0947.5122.4596352.4596350.030.0811630.041534NA0.152CLINSIG=non-pathogenic|pathogenic;CLNDBN=ALKALINE_PHOSPHATASEx2c_PLACENTALx2c_ALLELE-1_POLYMORPHISM|ALPP*1,ALKALINE_PHOSPHATASEx2c_PLACENTALx2c_ALLELE-3_POLYMORPHISM|ALPP*3;CLNREVSTAT=single|single,single|single;CLNACC=RCV000014644.1|RCV000014645.24,RCV000014646.1|RCV000014647.24;CLNDSDB=.|.,.|.;CLNDSDBID=.|.,.|.15.0976704
7142750147142750147CTexonicOR6V1NAnonsynonymous SNVexonicENSG00000225781NAnonsynonymous SNVScore=317;Name=lod=26NA7q34NANANANArs102457780.0818690.08150.03470.06630.12250.08690.08030.130D1.0D1.0D..0.989P3.115M8.15T-0.909T0.000T2.55514.53.841.2161.56310.3002.5553262.55532600.0826780.122803NA0.058NA15.0888554
31033145710331457GTexonicGHRLNAnonsynonymous SNVexonicENSG00000157017NAnonsynonymous SNVScore=259;Name=lod=15NA3p25.3NANANANArs6962170.08326680.08750.19150.04760.00910.0930.08560.190.13T1.0D0.999D0.068N0.000P2.34M1.38T-1.041T0.001T2.30513.663.442.2611.6228.3782.304672.304670.020.0770930.02315NA0.087CLINSIG=pathogenic|other;CLNDBN=Obesityx2c_age_at_onset_of|Metabolic_syndromex2c_susceptibility_to;CLNREVSTAT=single|single;CLNACC=RCV000005365.1|RCV000005366.1;CLNDSDB=.|.;CLNDSDBID=.|.15.0831404
22443904824439048AGexonicITSN2NAnonsynonymous SNVexonicENSG00000198399NAnonsynonymous SNVScore=440;Name=lod=82NA2p23.3Score=787;Name=V$COMP1_01NANANArs37316250.06549520.08950.07840.05480.04010.06950.07850.090.01D0.4B0.382B0.080U1.000D3.065M-0.46T-0.704T0.034T3.88319.745.382.1898.85015.7593.8834793.88347900.0837210.047662ID=COSM148811;OCCURENCE=1(stomach)0.036NA15.0816124
10129690826129690826ATexonicCLRN3NAnonsynonymous SNVexonicENSG00000180745NAnonsynonymous SNVScore=371;Name=lod=43NA10q26.2NANANANArs350705290.03654150.1083NA0.0620.01060.01740.06510.10.32T1.0D0.999D0.000D0.000P2.31M-1.12T-0.644T0.044T3.11316.45.522.3234.94213.2733.1130793.11307900.0919770.017703NA0.116NA15.0679564
123125651731256517CTexonicDDX11NAnonsynonymous SNVexonicENSG00000013573NAnonsynonymous SNVScore=511;Name=lod=159NA12p11.21Score=924;Name=V$HOXA3_01NANANArs1403354020.04233230.11130.0020.07780.00980.03170.07250.10.01D1.0D0.999D0.489N0.000P1.385L-0.8T-1.053T0.005T0.0744.4033.141.5826.56811.8160.074498NA00.0993240.016018ID=COSM1318019,COSM1318020;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)NANA15.0502094
57818147778181477CTexonicARSBNAnonsynonymous SNVexonicENSG00000113273NAnonsynonymous SNVScore=272;Name=lod=17NA5q14.1NANANANArs10657570.2855430.46620.3720.42940.03710.24440.39070.450.13T1.0D0.994D0.000D0.000P1.57L-4.96D-1.542T0.000T4.12221.35.462.5553.98518.2844.121794.121790.130.4324420.114389NA0.29CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000077997.1;CLNDSDB=.;CLNDSDBID=.15.0439914
6136589448136589448CAexonicBCLAF1NAnonsynonymous SNVexonicENSG00000029363NAnonsynonymous SNVScore=683;Name=lod=793NA6q23.3NANANANArs78267720NANANANANANA0.2922NA0.21T0.998D0.965D0.000D1.000D1.495L2.54T-1.158T0.049T3.5318.024.972.4784.58716.7673.5298723.5298720.09NANANANANA15.0411334
63111889831118898ATexonicCCHCR1NAnonsynonymous SNVexonicENSG00000204536NAnonsynonymous SNVScore=265;Name=lod=16NA6p21.33NANANANArs115408220.06409740.11230.03470.1340.00760.07160.09550.140.01D1.0D0.999D0.380N0.924P2.08M3.51T-1.125T0.031T2.90515.684.341.6384.23510.0122.905382.9053800.0854560.023541NA0.022NA15.0400774
27116308671163086TCexonicATP6V1B1NAnonsynonymous SNVexonicENSG00000116039NAnonsynonymous SNVScore=309;Name=lod=24NA2p13.3NANANANArs116816420.368810.44730.35910.29390.37140.34760.40950.460D0.826P0.599P0.000D1.000P..-1.61D-1.075T0.000T2.25213.494.91.8342.69612.5002.2516762.25167600.4365120.373128NA0.13CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037207.1;CLNDSDB=.;CLNDSDBID=.15.0400214
74791356047913560GTexonicPKD1L1NAnonsynonymous SNVexonicENSG00000158683NAnonsynonymous SNVScore=272;Name=lod=17NA7p12.3Score=726;Name=V$PPARG_01NAName=67NArs788339720.09225240.09050.08230.16430.0030.17380.10770.130.06T1.0D0.997D0.010N0.000P1.845L-0.29T-0.904T0.008T3.22116.794.282.3001.43315.0053.2206443.2206440.080.0986050.018384NA0.036NA15.0365284
1207109116207109116CTexonicPIGRNAnonsynonymous SNVexonicENSG00000162896NAnonsynonymous SNVScore=349;Name=lod=35NA1q32.1Score=734;Name=V$SEF1_CName=CTCF,CTCF_(SC-5916),SMC3_(ab9263),YY1_(C-20),Rad21Name=63NArs22755310.2963260.45630.32840.32710.19440.21470.38330.460.13T1.0D1.0D0.001N0.357P2.305M3.66T-0.911T0.000T2.77815.254.641.3520.6018.6872.777912.777910.130.4579070.218665ID=COSM425158;OCCURENCE=1(breast)0.449NA15.0358264
165773590057735900GCexonicCCDC135NAnonsynonymous SNVexonicENSG00000159625NAnonsynonymous SNVScore=433;Name=lod=77NA16q21Score=830;Name=V$ISRE_01Name=PU.1Name=6NArs71960160.2845450.26040.3760.28240.23680.28120.2850.380.28T0.585P0.12B0.000D0.000P0.735N0.41T-0.951T0.000T2.17213.224.111.0959.20714.4722.1716312.1716310.190.2532560.263876NA0.196NA15.0346774
2170003432170003432TGexonicLRP2NAnonsynonymous SNVexonicENSG00000081479NAnonsynonymous SNVScore=536;Name=lod=202NA2q31.1NANANANArs46675910.5559110.79320.49010.72770.1460.81190.71760.790.03D0.995D0.992D0.000N0.000P3.105M-3.03D-0.903T0.000T4.84127.54.50.9576.28412.9504.8414054.8414050.070.7901160.24217ID=COSM1401028;OCCURENCE=1(large_intestine)0.587CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000117509.2;CLNDSDB=.;CLNDSDBID=.15.0324174
2138759649138759649CTexonicHNMTNAnonsynonymous SNVexonicENSG00000150540NAnonsynonymous SNVScore=487;Name=lod=127NA2q22.1NANANANArs115585380.05950480.10440.03170.07780.0030.10530.10170.10.4T0.729P0.602P0.001N1.000D2.125M0.99T-1.146T0.007T4.10221.15.271.5805.28415.1714.1015884.1015880.010.1047670.023831NA0.08CLINSIG=other;CLNDBN=Asthmax2c_susceptibility_to;CLNREVSTAT=single;CLNACC=RCV000005467.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1869116:60080715.0224664
203421867334218673GCexonicCPNE1NAnonsynonymous SNVexonicENSG00000214078NAnonsynonymous SNVScore=547;Name=lod=222NA20q11.22Score=902;Name=V$NFY_CNANANArs124812280.1036340.10040.08330.12250.07490.15340.10610.130.02D0.763P0.656P0.000U0.000P2.55M2.0T-1.219T0.002T4.75926.75.322.7679.57718.7854.7594084.7594080.010.1063950.087154NA0.094NA15.0204384
1156351699156351699GAexonicRHBGNAnonsynonymous SNVexonicENSG00000132677NAnonsynonymous SNVScore=595;Name=lod=348NA1q22NANANANArs37485690.5447280.40950.70140.60370.57190.44380.480.70.01D1.0D1.0D0.000D0.000P3.455M1.12T-0.251T0.288T4.74526.54.442.2867.43814.5904.7446734.74467300.4252910.526125NA0.616NA15.0185424
12828229228282292TCexonicSMPDL3BNAnonsynonymous SNVexonicENSG00000130768NAnonsynonymous SNVScore=336;Name=lod=31NA1p35.3NANANANArs38138030.1863020.26840.21230.2550.07030.1830.25070.30.06T0.992D0.814P0.000D0.420P2.095M-3.1D-1.516T0.000T3.40917.525.342.0097.60815.2913.4093773.4093770.010.2963950.105311NA0.13NA15.0178384
225031917050319170AGexonicCRELD2NAnonsynonymous SNVexonicENSG00000184164NAnonsynonymous SNVScore=259;Name=lod=15NA22q13.33NAName=NFKB,EBF,EBF1_(C-8)NANArs115457630.0674920.11930.05460.07350.00450.10840.0930.130.28T0.998D0.947D0.042U0.042P-1.18N-3.05D-0.520T0.016T3.08416.34.411.6675.45712.7823.0838263.0838260.070.1044190.02315ID=COSM149319;OCCURENCE=1(stomach)0.174NA15.0166144
1111857208111857208GAexonicCHIANAnonsynonymous SNVexonicENSG00000134216NAnonsynonymous SNVScore=547;Name=lod=222NA1p13.2NANANANArs38188220.1295930.09840.09330.08070.19360.14720.11310.170D1.0D0.998D0.000N0.000P3.725H3.38T-0.895T0.070T3.91819.934.562.2338.82315.1933.9180083.91800800.1072910.16284NA0.159NA15.0145424
12114282496114282496CTexonicRBM19NAnonsynonymous SNVexonicENSG00000122965NAnonsynonymous SNVScore=492;Name=lod=133NA12q24.13NANANANArs20753870.2196490.30020.1310.20320.18150.29140.24930.310.05D0.997D0.86P0.000D0.000P1.935M3.47T-0.939T0.000T4.14421.45.112.3684.40818.1554.1436754.1436750.020.2698840.176123NA0.232NA15.0139494
54271923942719239ACexonicGHRNAnonsynonymous SNVexonicENSG00000112964NAnonsynonymous SNVScore=429;Name=lod=74NA5p12Score=727;Name=V$PAX4_04NAName=2NArs61800.4444890.41850.56940.40060.3790.46220.44340.580.08T0.933P0.897P0.074N1.000P3.585H1.3T-0.908T0.000T2.48214.263.431.1351.5745.4152.4822252.4822250.010.4605810.389015NA0.406CLINSIG=other;CLNDBN=Familial_hypercholesterolemia;CLNREVSTAT=single;CLNACC=RCV000009190.1;CLNDSDB=MedGen:OMIM:OMIM:SNOMED_CT:SNOMED_CT;CLNDSDBID=C0020445:143890:144400:397915002:39803600015.0108524
4162307312162307312CAexonicFSTL5NAnonsynonymous SNVexonicENSG00000168843NAnonsynonymous SNVScore=446;Name=lod=87NA4q32.2NANANANArs37495980.09105430.12030.07040.1210.06280.09920.10850.120.01D1.0D0.976D0.000D0.000P1.995M1.6T-1.046T0.003T3.02116.083.980.7714.52411.5273.021453.021450.010.096860.067181NA0.08NA15.0076734
10123970722123970722TAexonicTACC2NAnonsynonymous SNVexonicENSG00000138162NAnonsynonymous SNVScore=333;Name=lod=30NA10q26.13Score=755;Name=V$NRSF_01NANANArs22958760.08905750.08350.11510.13110.00450.15240.11970.130.12T1.0D0.988D0.009N0.000P1.95M4.09T-1.091T0.001T2.02412.735.02.0163.0889.2912.0240842.0240840.010.124070.026555NA0.138NA15.0060634
12110011230110011230CTexonicMMABNAnonsynonymous SNVexonicENSG00000139428NAnonsynonymous SNVScore=300;Name=lod=22NA12q24.11NAName=TBP,Pol2-4H8,E2F6,NANOG_(SC-33759),ELF1_(SC-631),Pol2(phosphoS2),YY1,HEY1,HMGN3,CCNT2,c-Myc,Pol2,TAF1,YY1_(C-20),Oct-2,POU2F2,E2F6_(H-50),Sin3Ak-20,ZEB1_(SC-25388),ETS1Name=114NArs107747750.2849440.28530.16070.29390.4380.19940.29020.45..0.989D0.556P0.034N0.000P0.895L-1.76D-1.001T0.000T2.36813.883.891.3511.23611.1842.3683782.3683780.010.2669380.389699NANANA14.9908954
2136409574136409574ACexonicR3HDM1NAnonsynonymous SNVexonicENSG00000048991NAnonsynonymous SNVScore=566;Name=lod=266NA2q21.3NANANANArs23051650.1884980.13220.17560.22910.09230.36090.1390.190.27T0.997D0.979D0.000D0.001P2.045M0.56T-1.145T0.001T4.0921.15.422.0397.95415.1134.0902644.0902640.040.0829070.112347NA0.094NA14.9792264
83984023439840234AGexonicIDO2NAnonsynonymous SNVexonicENSG00000188676NAnonsynonymous SNVScore=407;Name=lod=60NA8p11.21Score=896;Name=V$GATA1_03NANANArs47367940.1597440.10140.33430.21180.02270.18810.16030.36..0.999D0.996D0.000D0.016P1.14L0.99T-0.965T0.000T4.05720.85.292.0096.90311.6404.0569924.056992NA0.0949370.030472NA0.159NA14.9766964
177612131876121318GAexonicTMC6NAnonsynonymous SNVexonicENSG00000141524NAnonsynonymous SNVScore=480;Name=lod=119NA17q25.3NANAName=15NArs124498580.1050320.09240.20630.2550.00830.03780.18420.270.02D1.0D0.989D0.000U0.000P1.795L0.18T-1.066T0.000T4.11321.23.371.5807.53312.8594.1125974.1125970.030.0938740.025705NA0.101NA14.9628594
2220417266220417266CTexonicOBSL1NAnonsynonymous SNVexonicENSG00000124006NAnonsynonymous SNVScore=464;Name=lod=103NA2q35Score=864;Name=V$ELK1_02Name=HEY1,HA-E2F1,CCNT2Name=136NArs593324770.3765970.45830.38190.52020.34950.22190.46830.470.43T1.0D0.997D..0.000P1.27L-0.24T-0.929T0.000T4.25222.24.612.3903.58514.2904.2524064.2524060.170.4455860.365784NA0.37NA14.9611474
174524933545249335TGexonicCDC27NAnonsynonymous SNVexonicENSG00000004897NAnonsynonymous SNVScore=690;Name=lod=850NA17q21.32Score=836;Name=V$GR_Q6Name=YY1,BDP1,TBP,c-Jun,TR4,STAT2,BRF2,Nrf1,ZNF274,TAF1Name=123NArs76782714NANANANANANA0.3761NA0.31T0.0B0.001B0.002N1.000D-0.145N-0.81T-0.975T0.158T1.91412.364.60.9853.1857.1991.913761.913760.17NANANANANA14.9572334
213405935234059352TCexonicSYNJ1NAnonsynonymous SNVexonicENSG00000159082NAnonsynonymous SNVScore=643;Name=lod=548NA21q22.11Score=873;Name=V$FOXO3_01NANANArs22545620.3041130.28730.32840.28820.29880.31490.29340.340.03D0.992D0.843P0.000D0.000P1.5L0.29T-1.097T0.000T5.106325.852.2397.88816.2395.1062995.1062990.040.2979050.297045NA0.326NA14.9547284
4187542755187542755TCexonicFAT1NAnonsynonymous SNVexonicENSG00000083857NAnonsynonymous SNVScore=444;Name=lod=85NA4q35.2NANANANArs284891160.2004790.11130.38490.19880.21410.08490.15170.40.19T0.998D0.993D0.000D0.000P2.38M0.17T-1.037T0.000T3.06316.235.192.3047.82515.5103.0633253.0633250.180.1180120.160648ID=COSM1131155,COSM1131153;OCCURENCE=1(prostate)0.225NA14.9523214
16334543334543CGexonicPDIA2NAnonsynonymous SNVexonicENSG00000185615NAnonsynonymous SNVScore=409;Name=lod=61NA16p13.3NANANANArs456148400.04792330.1421NA0.07490.00450.03990.10430.140D1.0D0.999D0.006N0.007P3.63H3.47T-1.050T0.001T2.34213.793.171.8731.86911.2462.3418042.34180400.1347830.025475NA0.123NA14.9521504
1201009182201009182AGexonicCACNA1SNAnonsynonymous SNVexonicENSG00000081248NAnonsynonymous SNVScore=313;Name=lod=25NA1q32.1NANANANArs121395270.2292330.10540.10910.10230.60590.06130.15490.570.02D0.999D0.994D..0.128P1.905M0.56T-0.869T0.000T3.69618.774.931.8515.6188.9083.6957573.69575700.1306980.541307NA0.246NA14.9423354
185917475959174759CAexonicCDH20NAnonsynonymous SNVexonicENSG00000101542NAnonsynonymous SNVScore=454;Name=lod=93NA18q21.33NANANANArs19433300.05930510.14610.03170.07930.01210.04810.10360.140.07T0.999D0.981D0.000D0.001P2.54M0.61T-1.047T0.004T3.26416.954.891.4113.90416.4273.2637483.2637480.120.141860.028143NA0.109NA14.9417734
63315352833153528CTexonicCOL11A2NAnonsynonymous SNVexonicENSG00000204248NAnonsynonymous SNVScore=512;Name=lod=160NA6p21.32Score=788;Name=V$COMP1_01NANANArs92779340.3218850.27730.24210.27380.38580.39780.30370.390.81T0.976D0.651P0.360U0.000P0.69N-2.32D-0.520T0.387T1.36210.483.82.1213.91611.3461.3618851.3618850.580.3143230.367131NA0.254CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039839.1;CLNDSDB=.;CLNDSDBID=.14.9380104
9138516190138516190TCexonicGLT6D1NAnonsynonymous SNVexonicENSG00000204007NAnonsynonymous SNVScore=259;Name=lod=15NA9q34.3Score=757;Name=V$HEN1_02NANANArs357622230.1234030.13720.15380.13690.11570.07870.13090.150D0.999D0.986D0.021N0.647P3.115M5.08T-1.097T0.000T3.12616.452.340.7195.8907.3203.1256573.1256570.020.1292160.125ID=COSM150746;OCCURENCE=1(stomach)0.094NA14.9360174
7126542667126542667ATexonicGRM8NAnonsynonymous SNVexonicENSG00000179603NAnonsynonymous SNVScore=676;Name=lod=747NA7q31.33Score=992;Name=V$LYF1_01NANANArs781249130.1226040.14810.20830.13690.00980.15030.13090.210.38T0.75P0.473P0.000D0.000P1.1L-2.33D-1.097T0.001T3.13516.484.881.8279.28313.6823.1350523.1350520.220.1241860.03064ID=COSM150386;OCCURENCE=1(stomach)0.065NA14.9301474
134246571342465713CTexonicVWA8NAnonsynonymous SNVexonicENSG00000102763NAnonsynonymous SNVScore=544;Name=lod=216NA13q14.11NANANANArs95623620.2020770.31710.17860.29540.01510.29450.27960.330D0.989D0.832P0.000D0.000P3.27M0.29T-1.158T0.000T5.663365.712.8617.53620.2245.6629975.66299700.3182560.059464NA0.232NA14.9183774
1148428664842866AGexonicOR51F2NAnonsynonymous SNVexonicENSG00000176925NAnonsynonymous SNVScore=317;Name=lod=26NA11p15.4NANANANArs350030530.06050320.163NA0.10230.03710.01940.10390.160D1.0D0.991D0.001U0.000P3.54H-0.27T-0.812T0.005T3.65618.594.431.9915.65912.9243.6564563.65645600.1485570.060654NA0.123NA14.9178764
2067591156759115ATexonicBMP2NAnonsynonymous SNVexonicENSG00000125845NAnonsynonymous SNVScore=534;Name=lod=198NA20p12.3Score=804;Name=V$ER_Q6NANANArs2357680.7667730.62230.82840.72910.98030.590.67430.980.01D0.978D0.871P0.000D0.000P2.855M-0.45T-1.044T0.000T2.95515.855.722.3194.86116.3632.9553362.95533600.6276740.927793NA0.674NA14.9090594
125584662355846623TCexonicOR6C2NAnonsynonymous SNVexonicENSG00000179695NAnonsynonymous SNVNANA12q13.2NANANANArs111714670.0912540.1571NA0.09370.13460.05730.12360.160D0.992D0.929D0.000D1.000P3.195M0.78T-0.891T0.002T2.3913.955.422.2752.16811.0792.3897342.38973400.1645350.132093NA0.145NA14.8880984
125571504855715048CTexonicOR6C1NAnonsynonymous SNVexonicENSG00000205330NAnonsynonymous SNVNANA12q13.2NANANANArs71326000.1074280.1571NA0.09510.19820.05320.12980.20D0.997D0.984D0.000D1.000P3.055M8.58T-0.600T0.000T1.97412.564.622.3803.18517.2441.9740871.97408700.1643020.201316NA0.159NA14.8821314
9286491286491GAexonicDOCK8NAnonsynonymous SNVexonicENSG00000107099NAnonsynonymous SNVScore=533;Name=lod=196NA9p24.3NANAName=2NArs32094410.07008790.1650.00690.08070.00910.11250.12340.180.07T1.0D0.992D..0.000P2.24M1.56T-1.229T0.001T5.384345.472.5749.47919.3435.3838435.38384300.175930.031548NA0.094NA14.8690034
35662803156628031GAexonicCCDC66NAnonsynonymous SNVexonicENSG00000180376NAnonsynonymous SNVScore=587;Name=lod=323NA3p14.3NANANANArs76374490.2150560.53880.04860.28390.07410.19530.39610.560.01D1.0D0.999D0.000D0.000P2.045M0.49T-0.870T0.000T5.03829.85.812.7394.88017.8525.0384955.0384950.010.5373260.153881NA0.319NA14.8611074
5176382995176382995GAexonicUIMC1NAnonsynonymous SNVexonicENSG00000087206NAnonsynonymous SNVScore=480;Name=lod=119NA5q35.2NANAName=42NArs37338760.1026360.15710.19440.08790.01890.07570.14250.170.04D1.0D0.999D0.001N0.001P1.355L2.58T-1.162T0.000T2.04812.85.532.7752.38915.1882.0479472.0479470.010.1739530.043577NA0.123NA14.8597804
194437766944377669GAexonicZNF404NAnonsynonymous SNVexonicENSG00000176222NAnonsynonymous SNVScore=435;Name=lod=78NA19q13.31NANANANArs129773030.3899760.5070.55360.56920.08550.38550.47460.570D1.0D0.999D..0.867P3.99H-2.17D-1.108T0.000T2.07112.882.561.4445.11112.2572.0708592.0708590.020.493420.139971NA0.37NA14.8583134
1145281543145281543CTexonicNOTCH2NLNAnonsynonymous SNVexonicENSG00000213240,ENSG00000255168NAnonsynonymous SNVScore=641;Name=lod=535NA1q21.1Score=997;Name=V$MYOD_Q6Name=FOXA1_(C-20),CTCF,p300,c-MycName=13NArs8002NANANANANANA0.4808NA0.06T1.0D0.996D..0.997N1.43L-3.12D-0.067T0.699D3.32117.171.870.4730.8598.5863.3208953.3208950.04NANANANANA14.8525334
174523442045234420TGexonicCDC27NAnonsynonymous SNVexonicENSG00000004897NAnonsynonymous SNVScore=731;Name=lod=1246NA17q21.32Score=790;Name=V$GFI1_01Name=p300,HDAC2_(SC-6296),HA-E2F1,CTCF,TAF7_(SQ-8),IRF3,CHD2_(N-1250),ZZZ3,GATA-2,YY1,p300_(F-4),TR4,CTCFL_(SC-98982),BDP1,TBP,Mxi1_(bHLH),BRF1,GTF2F1_(RAP-74),SETDB1,PU.1,Pol2(b),TAL1_(SC-12984),ZBTB33,STAT1,SUZ12,NFKB,ZNF274,MafK_(ab50322),TAF1,RPC155,EBF,RXRA,SMC3_(ab9263),BRF2,Nrf1Name=145NArs78493795NANANANANANA0.4898NA0.4T0.003B0.006B0.000D0.000P0.55N0.9T-0.853T0.139T2.26513.535.442.0667.52213.4442.2647832.2647830.11NANANANANA14.8435334
194441868044418680GCexonicZNF45NAnonsynonymous SNVexonicENSG00000124459NAnonsynonymous SNVScore=383;Name=lod=48NA19q13.31NAName=SETDB1NANArs3886850.4143370.51190.54860.57640.1740.38550.47890.570.01D1.0D0.999D0.003N0.000P2.375M2.29T-0.893T0.000T1.8612.183.391.9152.85014.0501.860141.860140.10.5006980.225601NA0.413NA14.8418354
6136599393136599393GCexonicBCLAF1NAnonsynonymous SNVexonicENSG00000029363NAnonsynonymous SNVScore=810;Name=lod=2601NA6q23.3Score=731;Name=V$PPARG_01NANANArs69400180.4982030.4990.50.50.49850.49390.49990.550.07T0.998D0.896P0.000D1.000D1.15L2.83T-1.182T0.050T3.21716.785.972.8343.27115.1753.216673.216670.01NANANA0.493NA14.8344334
1144866643144866643GAexonicPDE4DIPNAnonsynonymous SNVexonicENSG00000178104NAnonsynonymous SNVScore=597;Name=lod=357NA1q21.1NANANANArs1620560NANANANANANA0.50.50.01D1.0D0.995D..1.000D2.365M3.99T-1.099T0.019T2.13513.12.240.3301.0886.2872.134962.134960.03NANANA0.493NA14.8333334
1144916748144916748CGexonicPDE4DIPNAnonsynonymous SNVexonicENSG00000178104NAnonsynonymous SNVScore=602;Name=lod=374NA1q21.1NANANANArs1747930NANANANANANA0.50.50.06T0.998D0.991D..1.000D2.045M4.57T-0.400T0.367T4.58324.95.732.8864.31917.8174.5833154.5833150.01NANANA0.5NA14.8333334
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
221918409519184095TCexonicCLTCL1NAnonsynonymous SNVexonicENSG00000070371NAnonsynonymous SNVScore=614;Name=lod=419NA22q11.21NAName=eGFP-NR4A1NANArs10613250.4035540.51490.30750.45680.22770.58790.48970.520.14T0.975D0.994D0.000D0.000P2.295M2.55T-0.901T0.000T3.45817.713.51.4697.14412.1523.4576213.4576210.040.4970290.261745NA0.333NA14.8317044
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
107354408673544086GAexonicCDH23NAnonsynonymous SNVexonicENSG00000107736NAnonsynonymous SNVScore=547;Name=lod=223NA10q22.1NANANANArs38027110.1389780.18390.24010.12820.05750.10630.15480.210.37T1.0D0.993D0.000D0.000P1.145L..-1.158T0.000T5.596355.442.5566.67618.8955.5960165.5960160.090.1644610.07785NA0.087CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000039213.1|RCV000124200.1;CLNDSDB=.|.;CLNDSDBID=.|.14.8301724
1223285200223285200GAexonicTLR5NAstopgainexonicENSG00000187554NAstopgainScore=343;Name=lod=33NA1q41Score=755;Name=V$SEF1_CNANANArs57441680.05031950.06060.03870.03030.02270.10330.05560.061T....0.138N1.000D........7.367394.671.3301.88510.0797.3673967.367396NA0.0546510.024058NA0.029CLINSIG=other|pathogenic|pathogenic;CLNDBN=Legionellosis|Systemic_lupus_erythematosusx2c_resistance_tox2c_1|Melioidosisx2c_resistance_to;CLNREVSTAT=single|single|single;CLNACC=RCV000007037.2|RCV000007038.2|RCV000074501.2;CLNDSDB=MedGen:OMIM|MedGen|MedGen;CLNDSDBID=C1837872:608556|C1864265|CN18225214.829149
83986288139862881CTexonicIDO2NAnonsynonymous SNVexonicENSG00000188676NAnonsynonymous SNVScore=598;Name=lod=358NA8p11.21NANAName=5NArs101098530.4181310.51390.28770.45820.3260.55010.48430.53..1.0D1.0D0.000D0.003P3.69H-0.32T-0.914T0.000T3.90119.836.032.8613.02315.9343.9006163.900616NA0.506080.357105NA0.362NA14.8290534
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
1226555302226555302AGexonicPARP1NAnonsynonymous SNVexonicENSG00000143799NAnonsynonymous SNVScore=616;Name=lod=424NA1q42.12NANANAScore=100;Name=216809_0_+_100rs11364100.1968850.15410.43650.35160.03710.10020.20180.460.24T0.728P0.731P0.000D0.000P2.11M2.69T-0.836T0.000T4.0620.95.562.1228.95715.7094.0596214.0596210.020.1594190.052882NA0.196NA14.8180144
204587811845878118CGexonicZMYND8NAnonsynonymous SNVexonicENSG00000101040NAnonsynonymous SNVNANA20q13.12NAName=Pol2(b)NANArs771370730.003793930.0149NA0.0043NA0.0010.00850.0130.14T0.881P0.338B0.001D1.000N1.355L-1.73D-0.158T0.515D0.9288.7825.72.6833.20913.0830.928382NA0.010.0132560.003404ID=COSM221041;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)NANA14.7966774
63528571935285719ACexonicDEF6NAnonsynonymous SNVexonicENSG00000023892NAnonsynonymous SNVScore=371;Name=lod=43NA6p21.31NAName=c-Myc,CTCF,HA-E2F1Name=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
3148880043148880043GAexonicHPS3NAnonsynonymous SNVexonicENSG00000163755NAnonsynonymous SNVScore=407;Name=lod=60NA3q24NAName=GRNANArs783362490.003793930.0139NA0.0072NANA0.00960.0160.05D0.457P0.244B0.000N1.000D1.445L-0.35T-0.727T0.144T3.70118.85.111.5425.70315.0023.7011033.7011030.030.0156980.004539NANANA14.7941354
1186050417186050417AGexonicHMCN1NAnonsynonymous SNVexonicENSG00000143341NAnonsynonymous SNVScore=385;Name=lod=49NA1q31.1NANANANArs107980350.5826680.4990.56940.63110.69520.49590.54530.670.1T0.999D0.996D0.000D0.000P2.24M1.54T-0.918T0.000T4.80827.25.862.2418.90414.8164.8080574.8080570.020.4975580.667045ID=COSM424810;OCCURENCE=1(breast)0.63CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082286.1;CLNDSDB=.;CLNDSDBID=.14.7914754
12108012066108012066GAexonicBTBD11NAnonsynonymous SNVexonicENSG00000151136NAnonsynonymous SNVScore=760;Name=lod=1629NA12q23.3NANANANArs617533940.006589460.0209NA0.0115NA0.00410.01080.030.74T0.979D0.798P0.000D1.000D0.175N1.36T-1.095T0.041T3.92619.975.072.5099.81318.8083.9257283.9257280.580.0155810.001589NA0.007NA14.7860524
64659322446593224AGexonicCYP39A1NAnonsynonymous SNVexonicENSG00000146233NAnonsynonymous SNVNANA6p12.3Score=839;Name=V$OCT1_01NANANArs178563320.007388180.0249NA0.01150.00230.0010.01240.030.71T0.97D0.827P0.000D1.000N0.97L-1.96D-0.597T0.380T2.16713.25.21.9704.96011.4582.1665042.1665040.10.019070.00522NANANA14.7769634
11726550717265507CTexonicCROCCNAnonsynonymous SNVexonicENSG00000058453NAnonsynonymous SNVScore=383;Name=lod=48NA1p36.13NANAName=9NArs201951425NANANANANANA0.0270.030.31T0.995D0.852P..1.000D1.735L2.78T-1.193T0.021T2.84815.495.392.7025.11314.6062.8477092.8477090.070.029680.012881ID=COSM424609;OCCURENCE=1(breast)0.014NA14.7766534
191591880215918802CGexonicOR10H1NAnonsynonymous SNVexonicENSG00000186723NAnonsynonymous SNVScore=278;Name=lod=18NA19p13.12NANANANArs48083830.1529550.17790.120.11240.13310.21680.18740.20.01D1.0D0.97D0.000D0.270P3.475M5.94T-1.045T0.000T2.106132.280.3231.9396.9582.1059912.1059910.010.1970930.138901NA0.239NA14.7709404
6116943975116943975GAexonicRSPH4ANAnonsynonymous SNVexonicENSG00000111834NAnonsynonymous SNVScore=652;Name=lod=594NA6q22.1NANANANArs412899420.01198080.02490.0010.0216NA0.01940.01960.030.09T0.868P0.427B0.000D1.000D3.075M2.09T-1.040T0.064T3.29317.064.82.6611.83513.5333.2929483.29294800.0232560.004312NA0.007NA14.7655774
1293129519312951GAexonicPZPNAnonsynonymous SNVexonicENSG00000126838NAnonsynonymous SNVScore=358;Name=lod=38NA12p13.31NANANANArs570067640.2707670.19090.47620.26950.16190.28940.21010.440D1.0D0.996D0.000U0.983P3.11M1.04T-0.968T0.000T1.51411.013.671.0442.4588.6441.51431.514300.1693020.161144NA0.167NA14.7630314
12529101025291010ATexonicRUNX3NAnonsynonymous SNVexonicENSG00000020633NAnonsynonymous SNVScore=509;Name=lod=156NA1p36.11NAName=Pol2,Pol2-4H8NANArs66724200.5776760.52090.68850.7190.38730.67890.57030.660.01D1.0D0.994D0.414N0.000P0.69N-4.2D-0.903T0.000T1.94712.475.672.1635.45212.3161.9474791.94747900.4839530.423706NA0.384NA14.7581804
1160078996007899CTexonicOR52L1NAnonsynonymous SNVexonicENSG00000183313NAnonsynonymous SNVScore=486;Name=lod=126NA11p15.4NANANANArs45019590.1673320.18790.32640.29540.01210.10120.19680.310.01D1.0D0.99D0.001N0.015P3.19M-0.2T-1.111T0.000T3.79519.272.71.7471.8459.4293.7953753.7953750.010.1926890.043664NA0.065NA14.7559444
1179497077949707AGexonicOR10A6NAnonsynonymous SNVexonicENSG00000175393NAnonsynonymous SNVScore=346;Name=lod=34NA11p15.4NANANANArs1114885590.01837060.0258NA0.06480.00150.01940.03430.040D0.981D0.832P0.000D0.932N3.505H8.58T-1.038T0.001T1.82812.073.240.7921.0527.0241.8280031.82800300.0393480.009768NA0.007NA14.7338854
174071480440714804CAexonicCOASYNAnonsynonymous SNVexonicENSG00000068120NAnonsynonymous SNVScore=483;Name=lod=122NA17q21.2NAName=Pol2,CEBPBName=41NArs6159420.5069890.52390.45240.4870.42890.66560.5390.580.01D0.944P0.66P0.001D0.000P0.695N1.45T-0.903T0.000T3.84519.535.692.6935.15317.2983.8451833.8451830.040.5429270.43094ID=COSM1383389;OCCURENCE=1(large_intestine)0.601NA14.7275064
19451256594512565CTexonicABCA4NAnonsynonymous SNVexonicENSG00000198691NAnonsynonymous SNVScore=366;Name=lod=41NA1p22.1Score=882;Name=V$AP4_01NANANArs18015810.01537540.0368NA0.00860.00230.03170.03070.0410.16T0.519P0.163B0.003N1.000N0.855L-2.81D-0.481T0.429T1.51311.013.541.2941.0657.5551.5126691.5126690.350.0410470.014299NA0.072CLINSIG=other|pathogenic|non-pathogenic;CLNDBN=MACULAR_DEGENERATIONx2c_AGE-RELATEDx2c_2x2c_SUSCEPTIBILITY_TO|Stargardt_disease_1|not_provided;CLNREVSTAT=single|single|single;CLNACC=RCV000008374.1|RCV000008375.1|RCV000085512.2;CLNDSDB=.|MedGen:OMIM:Orphanet|.;CLNDSDBID=.|C1855465:248200:ORPHA827|.14.7247864
193991575839915758CGexonicPLEKHG2NAnonsynonymous SNVexonicENSG00000090924NAnonsynonymous SNVScore=409;Name=lod=61NA19q13.2NAName=Pol2NANArs317280.5922520.53380.60020.50580.6770.5910.55270.68..0.999D0.991D0.001D0.000P2.015M-1.23T-0.846T0.000T2.89915.663.032.4811.1159.1952.8988142.8988140.020.52980.6787NA0.478NA14.7170334
11960040619600406CTncRNA_exonicAKR7LNANAexonicENSG00000211454NAunknownScore=482;Name=lod=121NA1p36.13NANANANArs1492466560.01956870.0348NA0.03170.00080.04090.04310.0410.02D1.0D1.0D0.000D1.000D....-0.441T0.152T3.90619.863.151.7724.61913.3013.9060273.906027NA0.0405410.006522NANANA14.7148923
223758142237581422GCexonicC1QTNF6NAnonsynonymous SNVexonicENSG00000133466NAnonsynonymous SNVScore=358;Name=lod=38Name=Hypothyroidism22q12.3NANANANArs2295260.1890970.20680.10710.13690.27690.17380.19990.280.13T0.919P0.483P0.001D0.000P2.24M1.08T-1.056T0.000T1.55711.164.492.0393.88315.3691.5574931.5574930.110.223140.26532NA0.196NA14.7034934
49351139693511396CTexonicGRID2NAnonsynonymous SNVexonicENSG00000152208NAnonsynonymous SNVScore=534;Name=lod=197NA4q22.1NANANANArs341443240.02276360.04470.0020.05330.01210.01430.03510.060D0.963D0.595P0.000D0.528N0N2.38T-0.717T0.075T3.82819.445.962.8265.08515.9483.8284493.8284490.020.0505810.020881ID=COSM1130995;OCCURENCE=1(prostate)0.029NA14.7029524
9104385711104385711CTexonicGRIN3ANAnonsynonymous SNVexonicENSG00000198785NAnonsynonymous SNVScore=660;Name=lod=640NA9q31.1Score=926;Name=V$HSF2_01NANANArs109895630.1315890.23860.04660.16710.07030.16670.20340.190.34T0.999D0.977D0.000D0.000P1.79L1.69T-1.211T0.000T4.92128.45.722.7167.81819.8944.921164.921160.230.1917440.089877NANANA14.6995894
78993868089938680CTexonicC7orf63NAnonsynonymous SNVexonicENSG00000105792NAnonsynonymous SNVScore=474;Name=lod=113NA7q21.13NANANANArs11349560.3805910.55770.20240.39910.28590.49690.50710.570.01D1.0D1.0D0.000D0.000P2.395M1.55T-0.886T0.000T4.16421.55.512.6014.33519.4214.1639534.1639530.010.5719020.346494NA0.449NA14.6966314
173964334039643340TGexonicKRT36NAnonsynonymous SNVexonicENSG00000126337NAnonsynonymous SNVNANA17q21.2Score=765;Name=V$HTF_01Name=Rad21,TCF12,CTCFName=29NArs116573230.1421730.23160.0040.12390.17550.16050.19230.240.02D0.286B0.395B0.000D1.000P2.015M-2.43D-0.986T0.001T2.49114.293.840.520-0.7705.6032.4914252.4914250.020.2163950.169542NA0.196NA14.6930384
47524850575248505GTexonicEREGNAnonsynonymous SNVexonicENSG00000124882NAnonsynonymous SNVScore=441;Name=lod=83NA4q13.3Score=874;Name=V$TAL1ALPHAE47_01NANANArs788031210.01817090.0527NA0.02020.00080.02350.03690.0550.46T0.85P0.424B0.005N0.895D2.165M2.61T-1.050T0.007T212.643.841.4360.9537.9921.999571.999570.160.0548840.013845NA0.007NA14.6888494
44803792648037926AGexonicNIPAL1NAnonsynonymous SNVexonicENSG00000163293NAnonsynonymous SNVScore=514;Name=lod=163NA4p12Score=766;Name=V$YY1_02NANANArs131166840.2040730.21870.16370.19160.22620.20960.20970.28..0.994D0.974D0.000N0.014P2.255M-3.11D-1.183T0.001T2.2413.452.240.1686.08512.2212.2400682.2400680.060.2170930.203813NA0.239NA14.6878404
223088849430888494CTexonicSEC14L4NAnonsynonymous SNVexonicENSG00000133488NAnonsynonymous SNVScore=569;Name=lod=275NA22q12.2NANANANArs177385270.143970.22960.03970.2810.09230.1360.19280.230.06T0.992D0.917D0.000D0.000P2.445M1.6T-1.202T0.000T5.495355.092.5275.66217.6025.4953055.49530500.2251160.113482NA0.058NA14.6858174
3132226100132226100AGexonicDNAJC13NAnonsynonymous SNVexonicENSG00000138246NAnonsynonymous SNVScore=663;Name=lod=662NA3q22.1NANANANArs799532860.02416130.0586NA0.04610.00230.02760.04470.070.06T0.992D0.62P0.000D1.000D1.15L2.21T-1.201T0.005T2.15613.175.752.1815.34416.0502.156412.156410.160.0603490.013618NA0.036NA14.6696844
2108875198108875198GAexonicSULT1C3NAnonsynonymous SNVexonicENSG00000196228NAnonsynonymous SNVScore=460;Name=lod=99NA2q12.3NANANANArs22190780.349840.19180.67660.38760.30640.20760.28030.730D1.0D1.0D0.002N0.000P4.02H-2.23D-0.903T0.000T2.15613.172.210.6175.2409.2082.1560472.15604700.1930230.293917NA0.275NA14.6682104
148125125581251255TCexonicCEP128NAnonsynonymous SNVexonicENSG00000100629NAnonsynonymous SNVScore=358;Name=lod=38NA14q31.1NAName=CTCFName=59NArs3274630.3322680.38270.18060.36020.23830.5440.38540.40.49T0.996D0.89P0.001D0.000P1.5L1.55T-0.913T0.000T1.63811.434.882.3262.08812.7801.6377921.6377920.360.404070.268271ID=COSM147825;OCCURENCE=1(stomach)0.377NA14.6611634
1113098534113098534CTexonicST7LNAnonsynonymous SNVexonicENSG00000007341NAnonsynonymous SNVScore=718;Name=lod=1107NA1p13.2NANANAScore=73;Name=123186_0_-_73rs66585550.12480.24060.08930.11960.0930.0890.19310.260.14T1.0D0.998D0.000D0.000P1.765L2.05T-1.128T0.093T5.171325.592.6256.08619.1885.1711965.1711960.130.2487210.118021ID=COSM146584;OCCURENCE=1(stomach)0.101NA14.6509124
64297709242977092TCexonicPPP2R5DNAsynonymous SNVexonicENSG00000112640NAsynonymous SNVScore=606;Name=lod=386NA6p21.1Score=909;Name=V$SOX9_B1Name=Rad21,ZNF263,CTCFL_(SC-98982),SMC3_(ab9263),CTCF_(SC-5916),CTCF_(C-20),CTCFName=87NArs1149702160.001198080.005NA0.0014NANA0.00480.011........1.000D........0.7147.805-6.84-1.363-1.14318.2140.714379NANA0.0072090.002724NA0.014NA14.6496576
214285249742852497CTexonicTMPRSS2NAnonsynonymous SNVexonicENSG00000184012NAnonsynonymous SNVScore=466;Name=lod=104NA21q22.3NANANANArs123297600.2613820.23560.36210.15420.28670.2260.25020.40.02D0.999D0.938D0.022N0.077P2.755M-0.75T-1.061T0.000T3.61618.44.232.3921.5789.9163.6155933.6155930.030.2162790.290286ID=COSM149228;OCCURENCE=1(stomach)0.21NA14.6312544
73487403834874038CGexonicNPSR1NAnonsynonymous SNVexonicENSG00000187258NAnonsynonymous SNVScore=497;Name=lod=139NA7p14.3Score=863;Name=V$IRF1_01NANANArs7271620.3176920.21770.35120.35160.27080.42540.27770.330.15T0.999D0.974D0.000D0.000P1.755L1.22T-0.996T0.000T2.11113.024.752.4561.41510.1442.1113042.1113040.070.2106980.26759NA0.254NA14.6272354
154325619143256191TCexonicUBR1NAnonsynonymous SNVexonicENSG00000159459NAnonsynonymous SNVScore=516;Name=lod=166NA15q15.2Score=799;Name=V$FREAC3_01NANANArs39172230.0331470.07360.0010.02590.00230.07160.06380.080.3T0.702P0.217B0.000D1.000D0.995L0.8T-1.153T0.006T2.47214.234.651.9693.86012.4582.4720632.4720630.210.0735050.016568NA0.036NA14.6224284
11116633862116633862GAexonicBUD13NAnonsynonymous SNVexonicENSG00000137656NAnonsynonymous SNVScore=265;Name=lod=16Name=Metabolic syndrome (bivariate traits)11q23.3NANANANArs118205890.08885780.0696NA0.1340.18080.0440.07870.180D0.733P0.229B0.002N0.000P2.31M2.15T-1.061T0.000T1.34710.424.082.5974.40312.9591.3466011.3466010.010.0682190.164698NA0.072NA14.6168144
114394060243940602CGexonicALKBH3NAnonsynonymous SNVexonicENSG00000166199NAnonsynonymous SNVScore=477;Name=lod=116NA11p11.2NANANANArs11302900.1389780.25750.09330.13980.08020.14310.19850.260.01D0.898P0.779P0.000D0.000P2.085M2.58T-1.210T0.000T4.65925.65.912.7932.59115.7994.6586954.65869500.2610470.097821ID=COSM1127789;OCCURENCE=1(prostate)0.145NA14.6162864
12723992027239920CGexonicNR0B2NAnonsynonymous SNVexonicENSG00000131910NAnonsynonymous SNVScore=580;Name=lod=304NA1p36.11NANANANArs66591760.04652560.07460.0060.0490.05520.0460.06150.0810.61T0.991D0.894P0.000D1.000D0.965L-3.43D-0.331T0.189T4.02120.63.430.5883.82611.3464.0206114.0206110.020.0812790.061734NA0.043NA14.6159544
223076214030762140GAexonicCCDC157NAnonsynonymous SNVexonicENSG00000187860NAnonsynonymous SNVScore=540;Name=lod=208NA22q12.2Score=909;Name=V$RORA1_01NANANArs7402230.1591450.26940.14680.15710.14150.08380.19610.260.15T1.0D1.0D..0.000P1.905M1.46T-1.212T0.000T5.589355.252.6139.06017.3825.5889285.5889280.040.2562790.151384NA0.275NA14.6115544
115918991259189912GAexonicOR5A2NAnonsynonymous SNVexonicENSG00000172324NAnonsynonymous SNVScore=346;Name=lod=34NA11q12.1NANANANArs14535470.1259980.25150.11210.13110.02420.14520.2090.260.01D0.997D0.993D0.004U0.259P2.45M8.76T-0.551T0.000T3.86619.644.551.4283.15713.8893.865683.865680.020.2628640.058155NA0.109NA14.6099694
115922460859224608AGexonicOR4D6NAnonsynonymous SNVexonicENSG00000166884NAnonsynonymous SNVScore=410;Name=lod=62NA11q12.1NANANANArs14535440.12520.25250.11410.13260.01970.14310.20920.270D0.939P0.76P0.000D0.403P3.205M2.99T-1.061T0.000T2.19313.294.881.0887.51611.1492.192612.1926100.2635620.055429ID=COSM1178424;OCCURENCE=1(prostate)0.094NA14.6080714
15527358055273580GTexonicC1orf177NAnonsynonymous SNVexonicENSG00000162398NAnonsynonymous SNVScore=403;Name=lod=58NA1p32.3NANANANArs97829800.4980030.59050.27080.45680.50230.66050.56040.60D1.0D0.999D0.000D0.000P2.135M1.76T-0.903T0.000T2.58914.624.452.5313.4749.0072.5894422.58944200.5982560.509532NA0.565NA14.5841774
1205814485205814485GAexonicPM20D1NAnonsynonymous SNVexonicENSG00000162877NAnonsynonymous SNVScore=514;Name=lod=164NA1q32.1NANANANArs11048990.24980.25150.2550.25360.18680.32520.26340.250.01D0.996D0.962D0.000D0.000P3.38M0.06T-1.022T0.000T2.02712.743.960.7932.6485.2172.0273952.0273950.020.2494190.203132NA0.188NA14.5690144
62952395229523952AGexonicUBDNAnonsynonymous SNVexonicENSG00000213886NAnonsynonymous SNVScore=251;Name=lod=14NA6p22.1NANANANArs20764850.181510.24950.17560.20890.02950.30370.25360.260D1.0D0.99D0.727N0.003P3.14M-1.39T-0.189T0.597D3.01716.063.00.3521.0337.0343.0168383.0168380.020.2626430.067836ID=COSM1442903;OCCURENCE=1(large_intestine)0.123NA14.5675904
17649547649547GCexonicGEMIN4NAnonsynonymous SNVexonicENSG00000179409NAnonsynonymous SNVScore=409;Name=lod=61NA17p13.3NANANANArs9109250.7100640.58850.72320.64120.88580.63290.62440.880.03D1.0D0.997D0.000D0.000P2.095M2.35T-1.080T0.000T4.44223.75.842.7799.63319.1354.4420244.4420240.10.562530.832337NA0.565NA14.5579034
157456077674560776GTexonicCCDC33NAnonsynonymous SNVexonicENSG00000140481NAnonsynonymous SNVNANA15q24.1Score=731;Name=V$LUN1_01NANANArs561076950.08206870.08450.07740.12970.01130.14620.09690.140.01D0.967D0.876P0.016N1.000P2.075M2.1T-1.079T0.001T1.2089.9053.780.9782.4659.1661.207964NA0.010.0993980.021156NA0.036NA14.5525354
183384858133848581TCexonicMOCOSNAnonsynonymous SNVexonicENSG00000075643NAnonsynonymous SNVScore=466;Name=lod=104NA18q12.2Score=845;Name=V$ELK1_01NANANArs10572510.0724840.07750.07040.17580.03780.04290.09770.170.03D0.835P0.144B0.052N0.961P2.175M2.41T-1.035T0.000T2.75615.185.742.3234.25712.7602.7559882.75598800.1162790.04562NA0.051NA14.5418544
191830470018304700AGexonicMPV17L2NAnonsynonymous SNVexonicENSG00000254858NAnonsynonymous SNVScore=552;Name=lod=234Name=Multiple sclerosis19p13.11NANAName=22NArs8746280.174720.28130.06550.19740.19670.13190.23450.281T0.799P0.587P0.000D0.062P0.82L0.97T-0.903T0.000T2.23913.444.451.7582.4779.8022.2389332.2389330.020.2757550.190313NA0.225NA14.5417784
1153644505364450AGexonicOR51B5NAnonsynonymous SNVexonicENSG00000242180NAnonsynonymous SNVScore=259;Name=lod=15NA11p15.4NANANANArs110369120.3256790.44040.17960.40350.25950.39260.41390.450D0.991D0.881P0.000D0.000P2.78M3.99T-0.910T0.000T3.51417.954.762.0172.29613.2953.5138683.51386800.4471720.279191NA0.362NA14.5318614
117730134177301341GAexonicAQP11NAnonsynonymous SNVexonicENSG00000178301NAnonsynonymous SNVScore=482;Name=lod=121NA11q14.1Score=822;Name=V$PAX3_01NAName=60NArs22764150.1459660.09640.18250.19020.13770.13910.13570.210.32T0.952P0.334B0.000N0.000P1.955M-1.92D-1.077T0.001T3.40217.493.680.7152.7199.8643.4023963.4023960.020.0933130.135NA0.159NA14.5079204
3164793758164793758CAexonicSINAnonsynonymous SNVexonicENSG00000090402NAnonsynonymous SNVScore=361;Name=lod=39NA3q26.1NANANANArs92902640.1994810.27530.11110.17870.21180.21060.25510.30.07T0.955P0.649P0.001D0.012P2.19M-2.84D-1.400T0.000T2.74215.135.682.7022.19515.2962.7423712.7423710.010.2968570.214934NA0.159NA14.5060764
1145075683145075683CTexonicPDE4DIPNAstopgainexonicENSG00000178104NAstopgainScore=329;Name=lod=29NA1q21.1NAName=CCNT2,CtBP2,Pol2,SUZ12,TAF1,ZNF274,TBPName=117NArs2762779NANANANANANA0.49990.511T......1.000A........4.41923.53.722.0682.19111.1874.4186074.4186070NANAID=COSM423677;OCCURENCE=1(breast)0.442NA14.5001
1144852390144852390CTexonicPDE4DIPNAstopgainexonicENSG00000178104NAstopgainScore=289;Name=lod=20NA1q21.1Score=948;Name=V$P53_02Name=CTCFNANArs2455986NANANANANANA0.50.211T......1.000D........15.108493.482.2162.28210.25915.10774215.107742NANANANA0.181NA14.5
114834701448347014GAexonicOR4C3NAstopgainexonicENSG00000176547NAstopgainScore=313;Name=lod=25NA11p11.2Score=817;Name=V$RREB1_01NANANArs72473368NANANANANANA0.50.51T....0.000D1.000D........4.66725.75.782.7821.46117.6804.6673164.6673160NANANA0.486NA14.5
1237841390237841390AGexonicRYR2NAnonsynonymous SNVexonicENSG00000198626NAnonsynonymous SNVScore=609;Name=lod=398NA1q43NAName=CTCF,SMC3_(ab9263),CTCF_(SC-5916),Rad21,p300_(N-15)Name=81NArs349678130.09924120.2942NA0.19880.01130.04910.25330.30.42T0.287B0.032B0.000D0.000P1.16L-0.29T-1.093T0.000T3.36817.355.672.1647.16810.2873.3679053.3679050.380.3041630.052618NA0.13CLINSIG=probable-non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Cardiomyopathy|not_specified|not_provided;CLNREVSTAT=single|mult|single;CLNACC=RCV000030429.1|RCV000036801.2|RCV000127843.1;CLNDSDB=MedGen:SNOMED_CT|.|.;CLNDSDBID=C0878544:85898001|.|.14.4816704
191599043115990431CTexonicCYP4F2NAnonsynonymous SNVexonicENSG00000186115NAnonsynonymous SNVScore=503;Name=lod=147Name=Acenocoumarol maintenance dosage,Warfarin maintenance dose,Response to Vitamin E supplementation,Vitamin E levels,Metabolite levels19p13.12NAName=ZNF263NANArs21086220.2368210.29030.21430.23780.08250.41310.27260.290.01D1.0D0.98D0.000U0.000P3.08M-0.51T-1.120T0.000T2.40814.011.720.4761.9957.542.4078032.4078030.010.2911630.09714NA0.152NA14.4792704
223913420739134207CTexonicSUN2NAnonsynonymous SNVexonicENSG00000100242NAnonsynonymous SNVScore=437;Name=lod=80NA22q13.1NAName=ZNF263,Pol2-4H8NANArs20727970.09504790.13120.16770.05190.00680.13290.10930.190.1T0.969D0.86P0.002N0.000P2.335M0.93T-1.196T0.001T4.57424.84.892.2845.52917.7544.5737384.57373800.1136050.021335ID=COSM149297;OCCURENCE=1(stomach)0.087NA14.4792284
6152772264152772264AGexonicSYNE1NAnonsynonymous SNVexonicENSG00000131018NAnonsynonymous SNVScore=391;Name=lod=52NA6q25.2NANANANArs2149760.6072280.44730.7490.37320.80860.51940.48110.770.06T0.481P0.164B0.325N0.000P1.955M0.63T0.108D0.536D3.74619.025.842.3678.64416.5603.7457853.7457850.010.4295350.733545NA0.587CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118478.2;CLNDSDB=.;CLNDSDBID=.14.4753984
113496911234969112AGexonicPDHXNAnonsynonymous SNVexonicENSG00000110435NAnonsynonymous SNVScore=500;Name=lod=143NA11p13Score=830;Name=V$FREAC4_01NANANArs115392020.1088260.3191NA0.15270.02570.08590.21970.330.33T0.999D0.996D0.000D0.000P-0.135N2.0T-0.914T0.000T3.22816.824.931.0918.12911.8723.2280633.2280630.120.3215450.086512NA0.094NA14.4729884
99200367992003679CTexonicSEMA4DNAnonsynonymous SNVexonicENSG00000187764NAnonsynonymous SNVScore=450;Name=lod=90NA9q22.2NANANANArs115264680.225240.30720.32940.27230.01740.28120.27150.380.15T1.0D0.98D0.000D0.000P3.595H2.52T-0.985T0.000T4.67925.84.031.2505.52114.4734.678514.678510.110.289070.063096NA0.246NA14.4655634
815140091514009CAexonicDLGAP2NAnonsynonymous SNVexonicENSG00000198010NAnonsynonymous SNVScore=278;Name=lod=18NA8p23.3Score=828;Name=V$AP4_01NANANArs23019630.4606630.45030.44840.57490.34340.56130.49430.550.03D0.976D0.636P0.003N0.561P2.2M1.98T-0.891T0.000T2.69514.974.552.2383.41217.7162.695382.695380.10.4474050.373023NA0.486NA14.4413284
224291209742912097CTexonicRRP7ANAnonsynonymous SNVexonicENSG00000189306NAnonsynonymous SNVScore=295;Name=lod=21NA22q13.2NAName=TCF4Name=6NArs115534410.07607830.14610.0030.17720.05670.03370.12710.20.12T0.941P0.373B0.000D0.000P2M2.21T-1.004T0.000T1.2129.9192.90.9463.84512.1151.211667NA00.1374420.077621NA0.167NA14.4226914
1248224216248224216CTexonicOR2L3NAnonsynonymous SNVexonicENSG00000198128NAnonsynonymous SNVScore=278;Name=lod=18NA1q44NANANANArs66582270.1878990.14410.2540.0980.2980.07980.14790.30D0.969D0.883P0.007U0.000P3.465M4.6T-0.993T0.000T2.54414.472.051.1242.85211.9652.5443572.54435700.1380230.273718NA0.152NA14.4033104
193054459305445ACexonicH6PDNAnonsynonymous SNVexonicENSG00000049239NAnonsynonymous SNVScore=401;Name=lod=57NA1p36.22Score=755;Name=V$STAT1_01NANANArs346034010.07607830.1630.0010.10230.00530.14110.12030.160.19T0.698P0.338B0.000D0.000P1.535L-4.72D-0.833T0.023T2.35313.834.172.1345.82411.0082.3533862.353386NA0.1519770.027236NA0.101NA14.3980564
12124427306124427306TAexonicCCDC92NAnonsynonymous SNVexonicENSG00000119242NAnonsynonymous SNVScore=361;Name=lod=39NA12q24.31NANANANArs110574010.2503990.34890.07940.31840.31090.19530.27970.340.01D1.0D0.971D0.001D0.000P2.44M0.86T-1.056T0.000T4.4323.53.440.4693.0199.4934.4295984.4295980.010.3094190.32433ID=COSM1359878;OCCURENCE=1(large_intestine)0.29NA14.3953144
1146085424608542CTexonicOR52I2NAnonsynonymous SNVexonicENSG00000226288NAnonsynonymous SNVScore=259;Name=lod=15NA11p15.4NANANANArs18476320.4115420.3260.55850.41210.28520.51840.34860.580D1.0D0.961D0.000D0.984P3.705H0.89T-0.906T0.000T0.9268.7723.260.9840.8786.9970.926203NA00.2810610.274875NA0.239NA14.3776724
12121691096121691096GAexonicCAMKK2NAnonsynonymous SNVexonicENSG00000110931NAnonsynonymous SNVScore=500;Name=lod=144NA12q24.31NANANANArs11327800.2412140.14910.27780.28390.27990.21570.18250.290.01D0.981D0.729P0.000D0.000P1.045L-0.25T-1.067T0.000T2.1713.214.471.2792.0499.0372.1695242.1695240.010.1295350.280073NA0.225NA14.3721984
4106859549106859549GCexonicNPNTNAnonsynonymous SNVexonicENSG00000168743NAnonsynonymous SNVScore=521;Name=lod=174NA4q24NANANANArs351328910.3246810.3340.18250.33290.46070.2720.31410.430.01D0.997D0.947D0.000D0.032P2.015M1.3T-1.148T0.000T3.34517.263.490.6983.8038.6963.3449233.3449230.040.3252330.410803NA0.377NA14.3600004
44790147647901476GAexonicNFXL1NAnonsynonymous SNVexonicENSG00000170448NAnonsynonymous SNVScore=544;Name=lod=216NA4p12NANANANArs126513010.3887780.3270.60020.34150.3290.34870.35130.630.32T1.0D1.0D0.000D0.000P2.255M0.91T-0.904T0.000T3.34317.255.582.6259.43419.5583.3431263.34312600.310.332501NA0.471NA14.3450334
172120418721204187GTexonicMAP2K3NAnonsynonymous SNVexonicENSG00000034152NAnonsynonymous SNVScore=461;Name=lod=100NA17p11.2NANANANArs56067280NANANANANANA0.49980.50.01D0.982D0.671P0.000D0.000P0.595N1.09T-1.001T0.000T3.31417.145.082.3597.84518.4823.3141113.3141110NANAID=COSM288153;OCCURENCE=1(large_intestine)0.5NA14.3335334
172120219121202191CAexonicMAP2K3NAnonsynonymous SNVexonicENSG00000034152NAnonsynonymous SNVScore=381;Name=lod=47NA17p11.2Score=964;Name=V$ZIC1_01NANANArs339112180.000199681NANANA0.0008NA0.50.50.15T0.734P0.326B0.000D1.000D0.95L-0.65T-0.940T0.000T2.55814.514.951.5007.04317.1332.5579592.5579590.06NANANA0.5NA14.3333334
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$TCF11_01NANANArs1470192350.0007987220.003NANA0.0008NA0.00210.0040.28T0.448B0.091B0.000N1.000D2.22M-0.23T-0.689T0.247T3.0216.074.931.4714.56914.2683.020093.020090.030.0018610.002497NANANA14.3263724
1748635404863540TCexonicSPAG7NAnonsynonymous SNVexonicENSG00000091640NAnonsynonymous SNVScore=613;Name=lod=415NA17p13.2Score=760;Name=V$TCF11MAFG_01NANANArs733433820.03075080.001NA0.00580.1127NA0.00920.091T0.003B0.008B0.000D0.987D0.76N0.94T-1.113T0.003T-0.7320.8715.32.2251.80913.238-0.732127NA0.850.0004770.089985NA0.058NA14.3226564
156932822669328226CTexonicNOX5NAnonsynonymous SNVexonicENSG00000255346NAnonsynonymous SNVScore=530;Name=lod=190NA15q23NAName=CTCF,CTCF_(C-20),Znf143_(16618-1-AP),c-Myc,CTCFL_(SC-98982),E2F6_(H-50),Max,CTCF_(SC-5916),SMC3_(ab9263),Rad21Name=30NArs129071960.2711660.53580.1240.330.11350.32210.42330.560.12T0.975D0.791P0.039N0.003P2.105M-3.14D-1.022T0.000T2.59914.651.181.4330.9846.6012.5990532.5990530.010.5551420.171818NA0.304NA14.3190914
89473862994738629GAexonicFAM92A1NAunknownexonicENSG00000188343NAnonsynonymous SNVScore=628;Name=lod=474NA8q22.1NANANANArs361173620.06230030.1252NA0.10370.04920.05010.10150.140.01D0.325B0.041B0.000D1.000D2.135M2.54T-1.149T0.001T3.4917.855.52.7327.83519.7623.4900723.49007200.1240490.050633NA0.094NA14.3159177
39798371197983711TCexonicOR5H6NAnonsynonymous SNVexonicENSG00000230301NAnonsynonymous SNVScore=352;Name=lod=36NA3q11.2NANANANArs98538870.6250.68490.6210.5980.5870.6380.6560.680D0.999D0.991D0.000D0.000P4.42H0.02T-0.900T0.000T2.72315.072.191.0066.5067.9662.7227412.72274100.6787710.631244NA0.457NA14.3136624
7143657232143657232AGexonicOR2F1NAnonsynonymous SNVexonicENSG00000213215NAnonsynonymous SNVScore=304;Name=lod=23NA7q35NANANANArs617313920.04912140.003NA0.02160.17170.0010.01550.170D0.409B0.11B0.000D0.772P2.595M7.19T-0.866T0.000T2.52614.415.652.3712.95713.8742.5258482.5258480.010.0022110.148888NA0.058NA14.3126224
79494608494946084ATexonicPON1NAnonsynonymous SNVexonicENSG00000005421NAnonsynonymous SNVScore=505;Name=lod=151NA7q21.3NAName=PU.1Name=4NArs8545600.1827080.35790.03370.20610.14980.1840.29130.370.02D0.983D0.925D0.001D0.500P1.845L0.79T-1.032T0.000T3.7118.84-1.76-0.0660.1964.2103.70953.70950.040.3730230.172946NA0.275CLINSIG=other|other|pathogenic;CLNDBN=Coronary_artery_diseasex2c_susceptibility_to|Microvascular_complications_of_diabetes_5|Enzyme_activity_finding;CLNREVSTAT=single|single|single;CLNACC=RCV000014742.1|RCV000014743.1|RCV000133465.1;CLNDSDB=MedGen|MedGen:OMIM|MedGen:SNOMED_CT;CLNDSDBID=C1840169|C2674665:612633|C1827841:42401700914.3111104
115921118859211188GAexonicOR5A1NAnonsynonymous SNVexonicENSG00000172320NAnonsynonymous SNVScore=436;Name=lod=79NA11q12.1Score=939;Name=V$ZIC3_01NANANArs65915360.6353830.69380.76090.58360.44330.74230.660.730.02D1.0D1.0D0.001N0.001P2.755M8.59T-1.097T0.000T3.9219.945.982.8357.83414.7363.9203133.92031300.6734580.4791NA0.659NA14.3060754
3436384436384ATexonicCHL1NAnonsynonymous SNVexonicENSG00000134121NAnonsynonymous SNVScore=428;Name=lod=73NA3p26.3NANANANArs1451625910.002995210.0099NA0.00580.0008NA0.00620.0120.17T0.609P0.565P0.000D1.000D1.435L0.44T-0.843T0.157T3.70918.845.472.0608.15815.5093.7086013.7086010.150.011860.002724NA0.007NA14.3053734
4169369920169369920CTexonicDDX60LNAnonsynonymous SNVexonicENSG00000181381NAnonsynonymous SNVScore=358;Name=lod=38NA4q32.3NANANANArs125075820.3284740.34290.6190.51590.02120.29650.35390.650D1.0D0.999D0.001U0.989P2.08M2.41T-0.954T0.000T2.40213.992.461.3463.4139.9102.4024862.40248600.3311990.072808NA0.29NA14.3053344
19216364692163646GAexonicTGFBR3NAnonsynonymous SNVexonicENSG00000069702NAnonsynonymous SNVScore=456;Name=lod=95NA1p22.1NAName=CEBPBName=68NArs22283630.004193290.0099NA0.0086NA0.00510.00660.012..0.01B0.009B0.075N0.876D-1.1N1.5T-0.998T0.012T2.03312.765.032.4704.43114.2192.033372.033370.610.0120930.001589NANANA14.3047404
11111635566111635566CTexonicPPP2R1BNAnonsynonymous SNVexonicENSG00000137713NAnonsynonymous SNVScore=654;Name=lod=606NA11q23.1NANAName=53NArs18050760.003594250.0139NA0.0043NA0.0010.00630.020.27T0.0B0.0B0.031N1.000D-1.415N3.45T-1.061T0.011T0.4446.4093.221.3832.5319.5730.443517NA0.310.0122180.002726NA0.007CLINSIG=pathogenic;CLNDBN=Lung_cancer;CLNREVSTAT=single;CLNACC=RCV000007000.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C0684249:211980:18787500714.3009154
12666587326665873CGexonicAIM1LNAnonsynonymous SNVexonicENSG00000176092NAnonsynonymous SNVScore=504;Name=lod=149NA1p36.11NAName=CTCF,ELF1_(SC-631),CTCF_(SC-5916)Name=5NArs1420350960.00718850.0159NA0.01010.00150.01120.01250.020.39T0.837P0.597P0.000D1.000D2.25M-1.04T-0.656T0.244T2.34313.790.98-0.014-0.0704.1362.3428622.3428620.210.0110470.004085NANANA14.2938864
167283111172831111GCexonicZFHX3NAnonsynonymous SNVexonicENSG00000140836NAnonsynonymous SNVScore=361;Name=lod=39NA16q22.2NANANANArs790379570.004392970.0189NA0.00140.00080.0010.01110.020.02D0.948P0.458P0.001N0.999D1.04L-1.28T-0.463T0.221T0.1374.7365.071.5281.62910.6610.136913NANA0.0126740.002502NANANA14.2906594
29679844096798440CTexonicASTLNAnonsynonymous SNVexonicENSG00000188886NAnonsynonymous SNVNANA2q11.1NANANANArs617351950.006589460.0129NA0.01730.00150.00610.01240.020.04D0.952P0.507P0.000D0.982N2.25M-0.24T-0.710T0.177T3.59118.293.692.2112.04911.2463.5912133.5912130.040.0189530.00227NANANA14.2890804
159182727191827271AGexonicSV2BNAnonsynonymous SNVexonicENSG00000185518NAnonsynonymous SNVScore=618;Name=lod=433NA15q26.1NAName=CTCFNANArs1173615510.01118210.0169NA0.0130.00080.02970.01260.0220.61T0.094B0.123B0.000D0.999D1.2L1.0T-1.070T0.051T1.27510.165.612.1522.31714.6871.2747231.2747230.50.0147740.00273NA0.014NA14.2890594
12611023626110236GAexonicMAN1C1NAnonsynonymous SNVexonicENSG00000117643NAnonsynonymous SNVNANA1p36.11Score=756;Name=V$STAT3_01NANANArs795073110.00619010.02390.0010.00430.00080.0020.01040.020.04D0.999D0.988D0.004N0.852N2.685M-0.74T-0.347T0.372T3.48917.852.260.1821.3428.8063.4893653.48936500.0138370.001362NA0.029NA14.2851964
173326964833269648CGexonicCCT6BNAnonsynonymous SNVexonicENSG00000132141NAnonsynonymous SNVScore=630;Name=lod=484NA17q12NANANANArs22305530.2432110.37280.26390.18590.1490.25660.30890.380.03D0.588P0.458P0.000D0.000P3.255M-0.27T-1.074T0.000T3.24516.884.062.2207.01914.0943.2449783.2449780.010.3671090.173864NA0.225NA14.2845244
2218747073218747073ACexonicTNS1NAnonsynonymous SNVexonicENSG00000079308NAnonsynonymous SNVScore=489;Name=lod=130NA2q35Score=835;Name=V$OCT1_02NANANArs116808540.01038340.01690.0010.0360.00230.00610.01570.030.06T1.0D0.997D0.003U0.999D2.165M-3.17D-0.941T0.093T2.998160.438-0.0600.0275.7472.9980042.99800400.019070.004766NANANA14.2816634
1975730987573098TAexonicC19orf45NAnonsynonymous SNVexonicENSG00000198723NAnonsynonymous SNVScore=346;Name=lod=34NA19p13.2Score=917;Name=V$MSX1_01Name=eGFP-JunD,eGFP-FOS,c-Fos,Pol2,FOSL1_(SC-183),Pol2-4H8,c-JunNANArs4759230.2883390.36280.17460.38330.2950.25260.3270.420.8T1.0D0.999D0.020N0.556P1.905M1.24T-0.972T0.000T2.43714.114.051.8390.0479.5772.4365922.4365920.870.3639220.298457ID=COSM440623;OCCURENCE=1(breast)0.362NA14.2796114
25554473655544736TCexonicCCDC88ANAnonsynonymous SNVexonicENSG00000115355NAnonsynonymous SNVScore=581;Name=lod=306NA2p16.1NANANANArs412815010.007987220.0308NA0.0043NA0.00610.01180.040.57T0.999D0.995D0.000U1.000D0.105N3.06T-1.098T0.026T1.29810.254.771.0664.97011.9061.2977871.2977870.540.0119770.003858NANANA14.2787564
27469959574699595GTexonicMRPL53NAnonsynonymous SNVexonicENSG00000204822NAnonsynonymous SNVScore=504;Name=lod=149NA2p13.1NAName=E2F6_(H-50),Sin3Ak-20,ETS1,Pol2,E2F6,KAP1Name=56NArs788340870.007787540.0258NA0.0173NA0.0010.01260.020.3T0.213B0.096B0.000D1.000D-0.345N0.91T-1.089T0.023T0.5336.8873.631.3670.6747.8900.533193NA0.540.0170930.002951NANANA14.2778404
62991057229910572CTexonicHLA-ANAnonsynonymous SNVexonicENSG00000206503NAnonsynonymous SNVScore=295;Name=lod=21NA6p22.1NAName=Pol2-4H8,CTCFName=11NArs45569434NANANANANANA0.06030.060D1.0D0.98D0.690U0.991N3.54H5.54T-0.994T0.009T2.15213.151.870.3630.2095.3232.1518492.1518490NANAID=COSM1442948;OCCURENCE=1(large_intestine)NANA14.2730334
21192723811927238GAexonicLPIN1NAnonsynonymous SNVexonicENSG00000134324NAnonsynonymous SNVScore=497;Name=lod=139NA2p25.1NANANANArs339978570.00718850.0229NA0.0130.00080.00310.01570.0220.02D0.947P0.847P0.020N1.000D1.83L-0.56T-0.257T0.310T4.1821.65.572.6304.24919.5534.1799074.17990700.0220930.004993NA0.014NA14.2726404
27469037874690378CTexonicMOGSNAnonsynonymous SNVexonicENSG00000115275NAnonsynonymous SNVScore=500;Name=lod=144NA2p13.1Score=881;Name=V$CREB_02NANANArs10635880.518770.15810.82140.31270.80860.33230.26690.820.42T0.561P0.23B0.001D0.000P0.525N1.23T-1.077T0.000T1.98312.594.852.5040.99413.3471.9830341.9830340.750.136320.674012NA0.413CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000081381.1;CLNDSDB=.;CLNDSDBID=.14.2720134
193867335338673353GAexonicSIPA1L3NAnonsynonymous SNVexonicENSG00000105738NAnonsynonymous SNVScore=300;Name=lod=22NA19q13.13Score=906;Name=V$P300_01NANANArs617291450.007787540.02680.0010.00720.00230.00310.01780.0290.37T0.972D0.25B0.240N0.667D0.205N-0.95T-0.787T0.073T2.6914.955.392.5153.63413.6422.6897672.6897670.060.0284880.003404NA0.007NA14.2602454
5149509446149509446CTexonicPDGFRBNAnonsynonymous SNVexonicENSG00000113721NAnonsynonymous SNVScore=395;Name=lod=54NA5q32NAName=CTCF,c-Myc,Egr-1,E2F6_(H-50),E2F6,ZNF263Name=145NArs412871100.01078270.0328NA0.02160.00150.00410.01870.040.38T0.126B0.034B0.001N0.952D0.69N-0.98T-0.921T0.063T2.21413.363.732.4091.82612.5112.2143862.2143860.470.0260470.004766NANANA14.2557864
91929079419290794ACexonicDENND4CNAnonsynonymous SNVexonicENSG00000137145NAnonsynonymous SNVScore=676;Name=lod=748NA9p22.1NANANANArs412690190.01158150.0338NA0.02740.00150.00310.01950.040.41T0.996D0.915D0.003U1.000D1.62L..-0.871T0.093T4.71626.25.442.2876.10915.6564.7161654.7161650.010.0294330.007069NA0.022NA14.2506004
1168917586891758ACexonicOR10A2NAnonsynonymous SNVexonicENSG00000170790NAnonsynonymous SNVScore=361;Name=lod=39NA11p15.4NANANANArs79260830.3244810.35690.31350.37320.20730.42640.35330.370.01D0.999D0.993D0.001D0.791P0.805L8.71T-0.606T0.000T1.65811.54.181.9082.22911.5681.6576571.6576570.020.3730210.201045NA0.268NA14.2501124
214350543643505436GAexonicUMODL1NAnonsynonymous SNVexonicENSG00000177398NAnonsynonymous SNVScore=369;Name=lod=42NA21q22.3NANANANArs733715770.06090260.02580.15670.04320.0280.05520.04340.170.01D1.0D0.966D0.002N0.567P2.045M-1.05T-0.919T0.003T3.40817.513.010.9262.7809.2733.4075493.40754900.0188410.017969NA0.065NA14.2452924
154302098343020983GAexonicCDAN1NAnonsynonymous SNVexonicENSG00000140326NAnonsynonymous SNVScore=493;Name=lod=134NA15q15.2NANAName=3NArs80235240.2629790.18590.04960.12820.49240.34760.21580.450.05D0.993D0.491P0.457N0.164P1.39L-1.13T-0.995T0.000T3.6518.563.791.4470.8628.3913.6504533.6504530.010.1884160.428053NA0.261CLINSIG=non-pathogenic;CLNDBN=Congenital_dyserythropoietic_anemiax2c_type_I;CLNREVSTAT=single;CLNACC=RCV000020955.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK5313:C0271933:224120:ORPHA98869:5954800514.2432174
71187140611871406GCexonicTHSD7ANAnonsynonymous SNVexonicENSG00000005108NAnonsynonymous SNVScore=415;Name=lod=65NA7p21.3Score=917;Name=V$PAX4_03Name=Pol2,CTCF,Rad21Name=105NArs1404744260.0193690.02090.0010.05190.00080.03890.03770.060.53T0.099B0.04B0.358U0.959N0.46N0.3T-1.098T0.019T1.23510.024.792.4824.20213.1121.2354741.2354740.60.0330840.006801ID=COSM1235712;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)NANA14.2416494
12109936056109936056TCexonicUBE3BNAnonsynonymous SNVexonicENSG00000151148NAnonsynonymous SNVScore=483;Name=lod=122NA12q24.11NANAName=5NArs617480690.01118210.03780.0010.00580.00150.01120.02470.050.01D0.232B0.229B0.001N1.000D1.59L1.42T-1.000T0.028T3.15616.564.652.2362.73211.3413.1562283.1562280.020.0304650.007717ID=COSM1178430;OCCURENCE=1(prostate)NANA14.2403684
1765242986524298TAexonicKIAA0753NAnonsynonymous SNVexonicENSG00000198920NAnonsynonymous SNVScore=440;Name=lod=82NA17p13.1NANANANArs98893630.3079070.34890.35620.40060.15810.35280.36950.430.03D0.999D0.994D0.017N0.000P2.34M-2.19D-1.146T0.000T4.484243.840.9910.8107.6264.4841994.4841990.090.3772060.202093NA0.261NA14.2377274
3178968634178968634CTexonicKCNMB3NAnonsynonymous SNVexonicENSG00000171121NAnonsynonymous SNVScore=466;Name=lod=104NA3q26.32NANANANArs76455500.3152960.37080.1230.31270.4160.32210.34560.410.17T1.0D0.996D0.000D0.004P2.34M2.89T-0.920T0.000T3.54418.086.082.8944.58918.1573.5444343.5444340.010.381860.388107ID=COSM149519;OCCURENCE=1(stomach)0.319NA14.2350734
171034835410348354TCexonicMYH4NAnonsynonymous SNVexonicENSG00000264424NAnonsynonymous SNVScore=542;Name=lod=212NA17p13.1NANANANArs22776490.4548720.31810.82140.47550.2330.50310.42820.830D0.993D0.969D0.002U0.000P3.62H-1.18T-0.909T0.000T3.80919.345.52.2146.25715.8873.8090623.809062NA0.3546510.258057NA0.522NA14.2323824
33922867639228676TGexonicXIRP1NAnonsynonymous SNVexonicENSG00000168334NAnonsynonymous SNVScore=346;Name=lod=34NA3p22.2NANANANArs622441660.02016770.05070.0010.03460.00450.01940.03160.050.11T0.997D0.942D0.001N1.000D2.08M3.71T-1.178T0.007T1.68511.594.111.8730.1686.3031.6851171.6851170.050.0441860.008852NA0.087NA14.2068474
11124180282124180282ACexonicOR8D1NAnonsynonymous SNVexonicENSG00000196341NAnonsynonymous SNVNANA11q24.2Score=909;Name=V$TAL1BETAITF2_01NAName=5NArs71075390.2675720.40660.41770.33720.08930.16160.33870.420.01D1.0D1.0D0.001U0.621P3.835H3.2T-0.998T0.000T2.6714.89-3.22-0.868-1.11714.3722.670232.6702300.3932310.140618NA0.188NA14.1948024
13102220193102220193GTexonicITGBL1NAnonsynonymous SNVexonicENSG00000198542NAnonsynonymous SNVScore=489;Name=lod=129NA13q33.1Score=916;Name=V$AREB6_01NANANArs11406050.1160140.03380.1250.06920.21480.0910.06980.220.03D0.165B0.056B0.000N0.000P0.915L-2.58D-0.998T0.001T2.71915.054.581.4173.74414.1332.7189342.7189340.070.0434880.17635NA0.13NA14.1862454
10102006625102006625GAexonicCWF19L1NAnonsynonymous SNVexonicENSG00000095485NAnonsynonymous SNVScore=626;Name=lod=467NA10q24.31Score=941;Name=V$CETS1P54_01NANANArs70736100.08007190.04870.06150.05190.12330.0930.05260.10.34T0.066B0.01B0.000D0.000P1.445L1.57T-1.094T0.002T2.42114.054.62.6342.5116.4372.4207342.4207340.230.0462790.095325NA0.051CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116860.2;CLNDSDB=.;CLNDSDBID=.14.1857544
171035537110355371CTexonicMYH4NAnonsynonymous SNVexonicENSG00000264424NAnonsynonymous SNVScore=612;Name=lod=409NA17p13.1NANANANArs116512950.5079870.3340.86310.48410.30110.61760.45220.870D0.984D0.911D0.002U0.000P3.59H-1.38T-0.903T0.000T5.3345.512.7457.72219.7775.2999955.299995NA0.3639530.315706NA0.5NA14.1831804
1205031116205031116CTexonicCNTN2NAnonsynonymous SNVexonicENSG00000184144NAnonsynonymous SNVScore=529;Name=lod=188NA1q32.1Score=802;Name=V$ARP1_01NANANArs22298660.5511180.3390.8760.55910.3230.73720.47540.870.03D0.029B0.023B0.000D0.000P2.04M-0.3T-0.957T0.000T4.05520.84.942.2844.64317.7444.0551424.0551420.420.3436120.336058NA0.377NA14.1753214
139748483097484830AGexonicHS6ST3NAnonsynonymous SNVexonicENSG00000185352NAnonsynonymous SNVScore=574;Name=lod=288NA13q32.1NANANANArs95167710.03773960.04870.02080.03750.00380.090.05680.0580.1T0.433B0.103B0.000D1.000D2.205M-0.9T-0.746T0.065T4.34522.95.72.1579.33515.9624.3454894.3454890.080.0579070.014072NA0.029NA14.1699264
7128363287128363287GAexonicFAM71F1NAnonsynonymous SNVexonicENSG00000135248NAnonsynonymous SNVScore=537;Name=lod=203NA7q32.1NANANANArs69710910.1595450.23360.10520.16280.05980.2720.20390.240.2T0.998D0.892P0.001D0.026P2.095M2.87T-1.144T0.000T3.74819.035.22.8684.04614.4313.7481483.7481480.050.2294190.079664NA0.109NA14.1664144
1630732403073240GTexonicHCFC1R1NAnonsynonymous SNVexonicENSG00000103145NAnonsynonymous SNVScore=289;Name=lod=20NA16p13.3Score=803;Name=V$ARP1_01Name=Pol2,Pol2(phosphoS2),Pol2-4H8Name=104NArs105080.1890970.23560.11810.19160.13540.28530.2240.230.09T0.571P0.183B0.667N0.013P0.55N0.91T-1.048T0.000T1.2289.9813.141.1722.4587.4931.228065NA0.130.2297670.137853ID=COSM1478796,COSM435123;OCCURENCE=1(breast)0.232NA14.1439664
23908832339088323GAexonicDHX57NAnonsynonymous SNVexonicENSG00000163214NAnonsynonymous SNVScore=512;Name=lod=161NA2p22.1NANANANArs118930620.02336260.0765NA0.04470.00450.00310.04780.070.08T0.998D0.968D0.002N1.000D1.385L1.82T-1.192T0.014T4.26122.25.672.6777.63719.7734.2605544.26055400.0684880.013618NA0.036NA14.1405454
11116655600116655600GAexonicZNF259NAnonsynonymous SNVexonicENSG00000109917NAnonsynonymous SNVScore=456;Name=lod=95NA11q23.3Score=915;Name=V$CHOP_01NANANArs351206330.04672520.0666NA0.11530.03330.0440.06150.090.15T0.134B0.046B0.000D1.000D1.715L0.91T-1.101T0.016T3.15816.565.922.7956.26913.5003.1579043.1579040.140.0647110.029532NA0.036NA14.1405224
113295512232955122AGexonicQSER1NAnonsynonymous SNVexonicENSG00000060749NAnonsynonymous SNVScore=395;Name=lod=54NA11p13NANANANArs22977810.07887380.05770.05950.07780.07720.12370.07260.0870.01D0.996D0.986D0.000D0.008P1.04L2.2T-1.031T0.010T2.31713.713.830.8155.63211.8282.3174582.31745800.0644960.072732ID=COSM147173;OCCURENCE=1(stomach)0.058NA14.1385374
194437693744376937GAexonicZNF404NAnonsynonymous SNVexonicENSG00000176222NAnonsynonymous SNVNANA19q13.31NAName=KAP1,p300_(N-15),SETDB1Name=13NArs763110650.02236420.08050.0010.02590.00450.00610.04950.080.05D0.999D0.918D..1.000N1.36L3.19T-1.071T0.002T0.0234.133-3.98-0.530-2.7815.3720.023005NA0.030.0654890.009553NA0.007NA14.1378444
224664302346643023ACexonicCDPF1NAnonsynonymous SNVexonicENSG00000205643NAnonsynonymous SNVScore=454;Name=lod=93NA22q13.31Score=829;Name=V$AHRARNT_02NANANArs556410180.1066290.0696NA0.05190.2950.03890.07090.270.46T0.998D0.944D0.051N0.940P1.175L0.93T-1.020T0.000T0.7337.8954.281.9981.0725.9640.733169NA0.580.063140.246482NA0.181NA14.1296934
123090635830906358GAexonicCAPRIN2NAnonsynonymous SNVexonicENSG00000110888NAnonsynonymous SNVScore=602;Name=lod=373NA12p11.21NAName=Rad21,SMC3_(ab9263),CTCF_(SC-5916),CTCF_(C-20),CTCF,KAP1Name=126NArs176885670.03753990.07460.0030.0720.00450.05520.05590.0730.17T0.136B0.05B0.008N1.000D0.145N1.88T-1.054T0.003T1.89512.294.292.5202.35910.6571.8949031.8949030.060.0733720.011575NA0.051NA14.1294614
61812250618122506GAexonicNHLRC1NAnonsynonymous SNVexonicENSG00000187566NAnonsynonymous SNVNANA6p22.3NANANANArs109494830.3428510.39960.38690.49140.20420.32110.42110.440.19T0.164B0.04B0.001D0.930P1.87L-4.18D0.499D0.769D2.81415.375.232.4181.49217.5812.8139532.8139530.020.3850150.243062NA0.21CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117782.1|RCV000127205.1;CLNDSDB=.|.;CLNDSDBID=.|.14.1276184
7150554553150554553CTexonicABP1NAnonsynonymous SNVexonicENSG00000002726NAnonsynonymous SNVNANA7q36.1NANANANArs10497420.0531150.07850.0020.06050.08770.02760.06020.090.01D0.991D0.973D0.015N1.000N2.89M3.68T-1.234T0.003T3.31217.144.962.7352.25516.0833.3124683.31246800.0737550.086136NA0.174NA14.1208784
142350402123504021GAexonicPSMB5NAnonsynonymous SNVexonicENSG00000100804NAnonsynonymous SNVScore=461;Name=lod=100NA14q11.2NAName=Pol2-4H8,TR4,KAP1,TBP,Pol2,c-Myc,TAF7_(SQ-8),HEY1,YY1,Pol2(phosphoS2),POU2F2,NFKB,THAP1_(SC-98174),YY1_(C-20),Oct-2,TAF1,Sin3Ak-20,Pol2(b)Name=148NArs115439470.03594250.06260.0010.02880.02340.06650.06770.0830.04D0.007B0.003B0.048N1.000D0.55N0.72T-1.098T0.005T2.82515.413.370.5701.3164.4262.8245492.8245490.010.0826740.038357NA0.007NA14.1203594
2230861519230861519GTexonicFBXO36NAnonsynonymous SNVexonicENSG00000153832NAnonsynonymous SNVScore=358;Name=lod=38NA2q36.3Score=797;Name=V$OCT1_04Name=MafK_(ab50322)NANArs10358340.1797120.26540.10420.2680.19590.08490.2130.290.05D0.987D0.864P0.000D0.000P2.555M0.44T-1.060T0.000T2.25413.490.9620.1250.76512.4252.2541632.2541630.040.240.18906ID=COSM149087;OCCURENCE=1(stomach)0.13NA14.1149334
176249667062496670ACexonicDDX5NAnonsynonymous SNVexonicENSG00000108654NAnonsynonymous SNVScore=625;Name=lod=464NA17q23.3NAName=Pol2(b),Pol2,Pol2-4H8Name=15NArs11404090.02915340.0835NA0.04610.0030.02660.06440.090.47T0.024B0.01B0.010N0.943D0.895L..-1.097T0.006T0.0944.5064.641.0964.3587.5470.093795NA0.670.0715120.011575NA0.022NA14.1139214
202149418421494184CTexonicNKX2-2NAnonsynonymous SNVexonicENSG00000125820NAnonsynonymous SNVScore=583;Name=lod=313NA20p11.22Score=843;Name=V$YY1_02Name=SUZ12Name=9NArs81925620.02995210.0944NA0.04180.0030.02250.0560.080.59T0.0B0.001B0.013N0.765N-0.895N-2.71D-0.908T0.026T1.2289.9811.461.0501.3964.5561.228068NA0.360.0789530.014753NA0.014NA14.1039804
167059446705944CTexonicDNAJC11NAnonsynonymous SNVexonicENSG00000007923NAnonsynonymous SNVScore=502;Name=lod=146NA1p36.31NAName=ZNF263NANArs121377940.04412940.0795NA0.12820.00380.04810.06920.0820.42T0.222B0.019B0.000D0.996D-0.345N2.53T-0.999T0.002T2.07312.894.252.4725.6483.8382.0725842.0725840.320.0823260.017022NA0.022NA14.1023074
102978407229784072GCexonicSVILNAnonsynonymous SNVexonicENSG00000197321NAnonsynonymous SNVScore=317;Name=lod=26NA10p11.23NANANANArs2368406NANANANANANA0.7510.70.1T0.968D0.853P0.000D0.000P2.215M2.69T-0.976T0.000T4.0320.74.372.2676.34617.1534.0302264.0302260.07NANAID=COSM1599890;OCCURENCE=1(central_nervous_system)0.725NA14.0823334
11963501119635011CTexonicAKR7A2NAnonsynonymous SNVexonicENSG00000053371NAnonsynonymous SNVNANA1p36.13Score=853;Name=V$AHRARNT_01NANANArs10436570.03753990.09740.0030.06050.02570.01120.06390.10.02D0.999D0.952D0.000D1.000P2.02M3.66T-1.098T0.001T1.27210.150.9110.3842.2675.6641.2723951.2723950.010.0937210.030867NA0.022NA14.0783124
29827709098277090TCexonicACTR1BNAnonsynonymous SNVexonicENSG00000115073NAnonsynonymous SNVScore=579;Name=lod=302NA2q11.2NANAName=5NArs796168020.1331870.08850.01590.09650.35170.03070.08470.30.29T0.0B0.0B0.000D0.035P-1.84N-4.2D-0.975T0.000T0.5697.0774.332.0942.5748.8620.569383NA0.640.0825580.288243NA0.13NA14.0775754
11759331617593316GAexonicPADI3NAnonsynonymous SNVexonicENSG00000142619NAnonsynonymous SNVScore=395;Name=lod=54NA1p36.13NANANANArs22726290.1198080.08750.15080.12390.02870.24130.10090.150.11T0.999D0.921D0.008N0.481P2.12M2.01T-1.094T0.001T1.70111.653.941.1761.7709.3981.7014191.7014190.10.080.033364NA0.087NA14.0649334
155290377252903772TCexonicFAM214ANAnonsynonymous SNVexonicENSG00000047346NAnonsynonymous SNVScore=562;Name=lod=256NA15q21.3NANANANArs80366800.07807510.08650.0010.07060.13770.07360.08890.13..0.999D0.995D0.000D0.000P1.155L1.42T-1.186T0.002T4.95828.96.162.3675.98116.8064.9582154.9582150.10.0980970.125948NA0.08NA14.0598364
1118565953118565953GAexonicSPAG17NAnonsynonymous SNVexonicENSG00000155761NAnonsynonymous SNVNANA1p12NAName=CTCF,Rad21NANArs109234720.287340.43140.15670.41070.15510.3650.39480.450.01D1.0D0.998D0.030N0.226P2.045M2.07T-1.040T0.099T3.56718.185.632.6692.08415.1893.5669223.56692200.4484880.203586NA0.377NA14.0586454
190094519009451GCexonicCA6NAnonsynonymous SNVexonicENSG00000131686NAnonsynonymous SNVScore=289;Name=lod=20NA1p36.23NANANANArs22743290.09464860.10540.16470.04610.00530.16670.09240.17..1.0D0.987D0.009N0.000P2.24M0.57T-0.965T0.002T3.47217.773.391.3484.3338.0183.4716613.47166100.0953490.020881NA0.072NA14.0401844
63111248431112484CTexonicCCHCR1NAnonsynonymous SNVexonicENSG00000204536NAnonsynonymous SNVScore=381;Name=lod=47NA6p21.33NANANANArs1300720.07847440.11230.03470.13690.05670.07670.0990.150.22T1.0D0.998D0.005N0.390P2.28M3.26T-1.099T0.034T4.34622.94.21.1442.1789.3434.3462384.34623800.0867440.053109NA0.043NA14.0352894
125801549458015494GAexonicSLC26A10NAnonsynonymous SNVexonicENSG00000135502NAnonsynonymous SNVScore=435;Name=lod=78NA12q13.3NAName=Pol2,HMGN3,CTCF,E2F6Name=85NArs9238280.2651760.43740.27780.32420.13990.20250.43730.430.25T0.734P0.501P..0.737P0.975L-2.99D-1.169T0.000T3.44117.653.892.1974.39011.5853.4411943.4411940.450.4340080.186078NA0.29NA14.0246254
125649499856494998ATexonicERBB3NAnonsynonymous SNVexonicENSG00000065361NAnonsynonymous SNVScore=432;Name=lod=76NA12q13.2NANANANArs7731230.06649360.11230.0020.06630.07870.06950.09080.110.07T1.0D0.998D0.000D0.000P0N-1.06T-0.609T0.018T4.12721.35.872.3716.23414.0964.126794.126790.010.1065120.087154NA0.101NA14.0237214
18947906389479063GAexonicGBP3NAnonsynonymous SNVexonicENSG00000117226NAnonsynonymous SNVScore=391;Name=lod=52NA1p22.2NANANANArs46560770.3336660.44040.30750.29250.17930.48880.41720.45..1.0D0.99D0.006N1.000P3.63H-1.13T0.418D0.631D3.317.092.920.9402.43810.8343.2996343.2996340.010.4537210.261008NA0.246NA14.0220124
165348101053481010AGexonicRBL2NAnonsynonymous SNVexonicENSG00000103479NAnonsynonymous SNVScore=590;Name=lod=332NA16q12.2Score=819;Name=V$OCT1_04NANANArs178007270.1080270.28830.0010.20750.01890.08280.21570.310.19T0.997D0.87P0.000D0.000P0.16N-0.71T-1.058T0.000T3.28917.055.382.0475.90315.3883.2892263.2892260.150.3077910.053027NA0.21NA14.0215424
213225351332253513ATexonicKRTAP11-1NAnonsynonymous SNVexonicENSG00000182591NAnonsynonymous SNVScore=349;Name=lod=35NA21q22.11NANANANArs96368450.174920.08850.46630.20320.00450.17380.13560.430.08T1.0D0.999D0.013N0.002P2.445M3.61T-0.877T0.000T2.99215.985.42.1974.10613.7232.9923182.992318NA0.089070.02542NA0.254NA14.0201634
132390790923907909AGexonicSACSNAnonsynonymous SNVexonicENSG00000151835NAnonsynonymous SNVScore=462;Name=lod=101NA13q12.12NANANANArs170786050.2589860.27830.31450.36170.05520.38450.27780.360.12T0.745P0.251B0.000D0.062P0.55N-2.19D-1.113T0.000T3.116.355.942.2799.33916.3983.0995883.0995880.020.260060.096232NA0.152CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118228.2;CLNDSDB=.;CLNDSDBID=.14.0171734
143965092439650924AGexonicPNNNAnonsynonymous SNVexonicENSG00000100941NAnonsynonymous SNVScore=733;Name=lod=1267NA14q21.1NAName=Pol2(b),HEY1NANArs130210.1259980.10240.31450.05910.06960.07980.10660.340.08T0.924P0.827P0.000D0.000P0.425N2.53T-0.902T0.000T1.51811.034.742.3645.38010.9861.5183751.5183750.040.1093020.075579NA0.043NA14.0150314
12129559421129559421CTexonicTMEM132DNAnonsynonymous SNVexonicENSG00000151952NAnonsynonymous SNVScore=460;Name=lod=99NA12q24.33Score=794;Name=V$ER_Q6NANANArs731595400.08266770.11730.11610.07780.00450.12170.09750.12..0.936P0.797P0.000D0.000P0.48N2.54T-0.972T0.001T1.0669.3534.22.0332.48016.8841.066018NA0.530.1077910.019973NA0.087NA14.0107424
149673031396730313GAexonicBDKRB1NAstopgainexonicENSG00000100739NAstopgainNANA14q32.2Score=837;Name=V$GRE_CName=c-Myc,HA-E2F1Name=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
9108366734108366734GAexonicFKTNNAnonsynonymous SNVexonicENSG00000106692NAnonsynonymous SNVScore=575;Name=lod=289NA9q31.2NANANANArs347879990.1581470.27240.09130.22050.13390.09820.24460.320.16T0.947P0.197B0.003N0.078P2.075M-1.61D-1.150T0.000T3.35717.315.362.4964.39911.5453.3568593.3568590.050.3189530.15842NA0.123CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079437.3;CLNDSDB=.;CLNDSDBID=.13.9973804
135267627552676275TGexonicNEK5NAnonsynonymous SNVexonicENSG00000197168NAnonsynonymous SNVScore=478;Name=lod=117NA13q14.3NANANANArs347561390.07208470.11730.05460.11670.01970.08280.10680.130.31T0.995D0.92D0.000D0.235P0.495N-0.19T-1.010T0.004T2.39113.954.811.0933.45111.9922.3913232.3913230.040.1139530.039492ID=COSM147693;OCCURENCE=1(stomach)0.022NA13.9952804
10115352005115352005AGexonicNRAPNAnonsynonymous SNVexonicENSG00000197893NAnonsynonymous SNVScore=502;Name=lod=146NA10q25.3NANANANArs111963890.08765970.11930.10620.07350.04390.10530.10390.120.37T0.998D0.982D0.000D0.000P1.565L2.29T-1.160T0.002T3.39617.475.672.2887.07616.2043.3964493.3964490.050.1223260.052882NA0.043NA13.9878074
1753669475366947GAexonicDHX33NAnonsynonymous SNVexonicENSG00000005100NAnonsynonymous SNVScore=563;Name=lod=259NA17p13.2NANANANArs80693150.1082270.12330.02280.06770.2330.04090.10860.220.01D0.136B0.032B0.000D0.000P2.55M3.16T-1.044T0.000T4.82627.45.042.3404.53217.3684.8256694.8256690.030.1141860.205175NA0.109NA13.9872474
109670204796702047CTexonicCYP2C9NAnonsynonymous SNVexonicENSG00000138109NAnonsynonymous SNVScore=532;Name=lod=194Name=Warfarin maintenance dose10q23.33NANANANArs17998530.04792330.12430.0010.09940.00830.03480.09140.130.01D1.0D0.995D0.000U0.002P2.275M-0.44T-0.866T0.007T3.01516.061.420.194-0.3075.9093.0148453.0148450.030.1307890.026782NA0.094CLINSIG=other;CLNDBN=Warfarin_response;CLNREVSTAT=single;CLNACC=RCV000008920.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=CN078029:12270013.9868444
4107845794107845794CTexonicDKK2NAnonsynonymous SNVexonicENSG00000155011NAnonsynonymous SNVScore=550;Name=lod=230NA4q25NANANANArs170371020.1655350.10830.38590.30690.00530.11350.13650.340.1T1.0D0.992D0.000D0.051P0.895L0.94T-1.041T0.000T3.26416.955.752.7172.64519.9463.2635583.2635580.410.1024420.032002ID=COSM149724;OCCURENCE=1(stomach),2(prostate)0.087NA13.9860914
168124110081241100GCexonicPKD1L2NAnonsynonymous SNVexonicENSG00000166473,ENSG00000269323NAnonsynonymous SNVScore=410;Name=lod=62NA16q23.2NANANANArs111503700.4736420.43840.86610.47840.1770.50310.4820.840.03D1.0D0.977D0.000D0.000P..-0.2T-0.975T0.000T2.74215.134.932.2776.04918.1542.7419912.74199100.4274270.207368NANANA13.9855064
21093090310930903TCexonicPDIA6NAnonsynonymous SNVexonicENSG00000143870NAnonsynonymous SNVScore=429;Name=lod=74NA2p25.1Score=926;Name=V$ISRE_01Name=MEF2AName=8NArs48070.281350.26540.39480.33720.10590.37830.2980.360.06T0.049B0.469P0.000N0.000P1.215L3.9T-0.867T0.000T3.38117.414.561.0165.14411.4263.3814663.3814660.040.2852330.124149ID=COSM1398675;OCCURENCE=1(large_intestine)0.232NA13.9847004
2179432185179432185AGexonicTTNNAnonsynonymous SNVexonicENSG00000155657NAnonsynonymous SNVScore=609;Name=lod=398NA2q31.2NANANANArs124636740.1299920.30910.04270.11240.00530.21680.23680.320D0.801P0.192B..0.000P2.34M-0.64T-1.099T0.000T2.87615.585.652.1405.98915.8742.8758112.875811NA0.3029560.054348NA0.174CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=mult|single;CLNACC=RCV000040637.3|RCV000125894.1;CLNDSDB=.|.;CLNDSDBID=.|.13.9844774
225029788850297888TCexonicALG12NAnonsynonymous SNVexonicENSG00000182858NAnonsynonymous SNVScore=358;Name=lod=38NA22q13.33NANANANArs39228720.09165340.12430.05650.08210.03860.17280.11220.130.17T0.999D0.998D0.000D0.000P1.655L0.5T-1.009T0.004T2.72515.074.270.8554.97211.0732.7247092.72470900.1147670.04562NA0.174CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000082161.1;CLNDSDB=.;CLNDSDBID=.13.9820664
4103964529103964529ACexonicSLC9B2NAnonsynonymous SNVexonicENSG00000164038NAnonsynonymous SNVScore=412;Name=lod=63NA4q24NANANANArs22769760.143570.10640.18060.16280.0620.24030.13130.160.18T0.995D0.911D0.066N0.004P2.135M2.33T-1.187T0.001T2.91715.725.932.2706.43416.3872.9172322.9172320.070.1158140.059918NA0.123NA13.9798194
31239312512393125CGexonicPPARGNAnonsynonymous SNVexonicENSG00000132170NAnonsynonymous SNVScore=300;Name=lod=22Name=Fasting insulin-related traits (interaction with BMI),Type 2 diabetes3p25.2Score=843;Name=V$RORA2_01NANANArs18012820.07028750.12030.02580.11670.00530.11960.11010.120.02D0.0B0.0B0.541N0.000P0.695N-2.99D-0.726T0.019T2.18213.252.930.8590.3765.3412.1815342.18153400.1236050.026101NA0.051CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118044.2;CLNDSDB=.;CLNDSDBID=.13.9793284
578971917897191CTexonicMTRRNAnonsynonymous SNVexonicENSG00000124275NAnonsynonymous SNVNANA5p15.31Score=682;Name=V$P53_01Name=CTCF,YY1_(C-20)NANArs103800.2194490.11030.13990.31990.36840.14110.15090.320.04D0.001B0.004B0.438N0.965P2.02M-2.14D-1.095T0.000T-2.5160.0034.531.2640.53211.123-2.516189NA0.150.0977910.320018NA0.283NA13.9743424
34972153249721532GAexonicMST1NAnonsynonymous SNVexonicENSG00000173531NAnonsynonymous SNVNAName=Ulcerative colitis,Primary sclerosing cholangitis,Inflammatory bowel disease,Crohn's disease3p21.31Score=761;Name=V$PAX5_02NANANArs31979990.1918930.31310.05650.16860.21790.18810.25570.310.02D0.727P0.338B0.290N0.998P2.26M-2.48D-1.025T0.000T3.32717.19-2.82-0.5451.07512.6943.3273083.3273080.030.2936050.235134ID=COSM149393;OCCURENCE=1(stomach)0.109NA13.9709284
167016433470164334AGexonicPDPRNAnonsynonymous SNVexonicENSG00000090857NAnonsynonymous SNVScore=500;Name=lod=143NA16q22.1NANANANArs10852462NANANANANANA0.40080.40.37T0.071B0.074B0.000D1.000D0.12N-1.51D-1.042T0.000T1.70711.674.931.8435.9168.4791.7066471.7066470.42NANAID=COSM148098;OCCURENCE=1(stomach)0.167NA13.9325334
8101719138101719138CTexonicPABPC1NAnonsynonymous SNVexonicENSG00000070756NAnonsynonymous SNVScore=668;Name=lod=693NA8q22.3Score=876;Name=V$MYCMAX_02NAName=2NArs79940439NANANANANANA0.4025NA0.53T0.032B0.004B0.003N1.000D0.86L2.73T-1.063T0.088T4.67725.85.632.8167.21220.0344.6768114.6768110.15NANANANANA13.9308334
1963122906312290TCexonicACER1NAnonsynonymous SNVexonicENSG00000167769NAnonsynonymous SNVScore=576;Name=lod=291NA19p13.3NAName=CTCF,CTCF_(SC-5916),Rad21Name=4NArs729819710.1599440.13320.31940.13540.01130.24130.1580.380.81T0.01B0.018B0.001D0.242P0.455N1.01T-0.937T0.000T-0.5411.5432.41.8841.5883.792-0.541318NA10.1253490.036314NA0.152NA13.9167844
14100795139100795139GTexonicSLC25A47NAnonsynonymous SNVexonicENSG00000140107NAnonsynonymous SNVNANA14q32.2Score=771;Name=V$HEN1_02Name=TAF1,HNF4A,HNF4G_(SC-6558),Pol2,HEY1,HNF4A_(H-171),TBPName=4NArs350078800.3272760.4920.22620.31270.04240.65750.44460.480.68T0.936P0.541P0.042N0.000P1.01L-1.52D-0.944T0.000T0.9078.693.932.2621.6033.2000.907281NA0.30.4799520.101711ID=COSM432666;OCCURENCE=1(breast)0.319NA13.9167814
182872014728720147CTexonicDSC1NAnonsynonymous SNVexonicENSG00000134765NAnonsynonymous SNVScore=363;Name=lod=40NA18q12.1NANANANArs178001590.1863020.13320.47920.2320.00910.14620.15940.490.56T0.999D0.995D0.000D0.005P1.62L-0.09T-0.931T0.000T2.63114.765.832.7613.85817.9032.6312572.6312570.160.1288370.024966ID=COSM148417,COSM148416;OCCURENCE=1(stomach)0.275NA13.9118964
8101719201101719201AGexonicPABPC1NAnonsynonymous SNVexonicENSG00000070756NAnonsynonymous SNVScore=668;Name=lod=693NA8q22.3Score=942;Name=V$GATA2_01NANANArs72681439NANANANANANA0.4216NA..0.0B0.004B0.000D0.999D1.485L2.61T-0.727T0.252T3.42317.575.632.2728.62816.1253.4229273.4229270.26NANANANANA13.9117334
122961755029617550GAexonicOVCH1NAnonsynonymous SNVexonicENSG00000187950NAnonsynonymous SNVScore=259;Name=lod=15NA12p11.22NANANANArs110502430.1821090.13520.08530.10230.35850.14830.15020.340.12T1.0D0.995D..0.986P2.185M0.07T-1.050T0.000T3.19516.72.731.8361.7767.0773.1948553.1948550.070.1410720.338918ID=COSM147461;OCCURENCE=1(stomach)0.254NA13.9068614
173781408037814080GAexonicSTARD3NAnonsynonymous SNVexonicENSG00000131748NAnonsynonymous SNVScore=545;Name=lod=219NA17q12Score=883;Name=V$ZID_01Name=ZNF263NANArs18770310.469050.6730.41570.50430.18530.67280.61460.680.31T0.97D0.637P0.000D0.000P1.245L0.94T-0.978T0.000T3.16916.64.382.1253.66617.3053.1688113.1688110.120.6526740.236723ID=COSM148258;OCCURENCE=1(stomach),1(large_intestine)0.471NA13.8930594
161511121815111218CTexonicPDXDC1NAnonsynonymous SNVexonicENSG00000179889NAnonsynonymous SNVScore=346;Name=lod=34NA16p13.11Score=740;Name=V$PPARA_01Name=FOXA1_(C-20),FOXA2_(SC-6554),FOXA1_(SC-101058),p300Name=90NArs4985162NANANANANANA0.26540.430.35T0.015B0.016B0.000N0.001P0.55N1.19T-0.920T0.000T2.31713.74.491.2603.08212.4402.3168412.3168410.330.1831510.145426NA0.051NA13.8847824
5120021817120021817CAexonicPRR16NAnonsynonymous SNVexonicENSG00000184838NAnonsynonymous SNVScore=355;Name=lod=37NA5q23.1NANANANArs178538610.0918530.1620.05360.0850.07110.0920.12910.16..1.0D0.999D0.000D0.000P1.845L0.83T-1.203T0.002T3.7418.995.582.6403.30618.3983.7402563.74025600.1584880.079891ID=COSM149903;OCCURENCE=1(stomach)NANA13.8837454
166502571865025718GAexonicCDH11NAnonsynonymous SNVexonicENSG00000140937NAnonsynonymous SNVScore=636;Name=lod=513NA16q21NANANANArs351950.181510.3310.20440.20750.02340.19940.27280.360.01D0.996D0.88P0.000N0.000P2.205M3.92T-0.899T0.000T3.78219.24.591.3443.38813.2833.7824743.78247400.3560470.072855NA0.159NA13.8734864
167218456672184566CTexonicPMFBP1NAnonsynonymous SNVexonicENSG00000118557NAnonsynonymous SNVScore=440;Name=lod=82NA16q22.2NANANANArs353706340.08765970.1620.02180.06340.01510.19430.14490.170.75T1.0D0.989D0.000D0.000P0.695N2.47T-0.986T0.002T5.204336.172.9413.76116.3805.2039285.20392800.1632560.035942NA0.138NA13.8631774
173962206839622068GTexonicKRT32NAnonsynonymous SNVexonicENSG00000108759NAnonsynonymous SNVScore=538;Name=lod=205NA17q21.2NANANANArs20715610.4996010.47610.63690.51870.24130.71780.5120.590D0.983D0.977D0.002N0.268P3.725H-2.74D-1.064T0.000T3.51417.954.121.2850.6009.1393.5137333.51373300.4986050.287789NA0.42NA13.8466284
12124826462124826462CTexonicNCOR2NAnonsynonymous SNVexonicENSG00000196498NAnonsynonymous SNVScore=512;Name=lod=161NA12q24.31NANANANArs22298400.1609420.15510.10710.26370.1120.21570.17050.230.34T1.0D0.99D0.000D0.000P0.665N2.37T-1.025T0.000T2.97615.924.371.9854.64610.5892.9760072.9760070.380.1624650.115932NA0.123NA13.8452684
214754576847545768GAexonicCOL6A2NAnonsynonymous SNVexonicENSG00000142173NAnonsynonymous SNVScore=584;Name=lod=316NA21q22.3NANANANArs10429170.393970.50990.43060.63980.2080.31390.47840.620.09T1.0D0.982D0.000D0.000P1.39L-1.15T-0.854T0.000T2.61314.74.41.9984.76416.9942.6132962.6132960.090.5011630.240808NA0.268CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000079868.2;CLNDSDB=.;CLNDSDBID=.13.8438704
14100615961100615961CTexonicDEGS2NAnonsynonymous SNVexonicENSG00000168350NAnonsynonymous SNVScore=483;Name=lod=122NA14q32.2Score=718;Name=V$NRSF_01NANANArs49059370.1423720.1670.18250.15990.07490.15440.16480.170.39T0.908P0.449P0.000D0.000P1.515L1.42T-1.057T0.000T3.52217.994.42.1545.96117.3133.5219913.5219910.210.1602240.086482NA0.072NA13.8413094
1205812912205812912AGexonicPM20D1NAnonsynonymous SNVexonicENSG00000162877NAnonsynonymous SNVNANA1q32.1NANANANArs75189790.2545930.1690.38290.13980.36910.1370.17820.390.07T0.996D0.97D0.000D0.448P3.02M2.93T-0.977T0.000T1.95112.484.921.0856.98813.2171.9508331.9508330.020.1451160.332728NA0.203NA13.8410174
1144877176144877176CTexonicPDE4DIPNAnonsynonymous SNVexonicENSG00000178104NAnonsynonymous SNVScore=522;Name=lod=177NA1q21.1Score=827;Name=V$SREBP1_02Name=HEY1,CTCFNANArs2762875NANANANANANA0.50.51T0.0B0.0B..1.000D-2.325N5.54T-0.991T0.000T0.2645.4255.180.9945.4449.3200.263515NA1NANANA0.5NA13.8333334
1144882823144882823CTexonicPDE4DIPNAnonsynonymous SNVexonicENSG00000178104NAnonsynonymous SNVScore=559;Name=lod=249NA1q21.1NANANANArs1698647NANANANANANA0.50.50.58T0.998D0.995D..1.000D0.805L4.69T-0.530T0.009T5.06315.762.7363.31017.4515.0604475.0604470.07NANANA0.5NA13.8333334
1144912233144912233CTexonicPDE4DIPNAnonsynonymous SNVexonicENSG00000178104NAnonsynonymous SNVScore=476;Name=lod=115NA1q21.1Score=735;Name=V$MYOGNF1_01NANANArs1629011NANANANANANA0.50.50.12T1.0D0.998D..1.000D0.975L4.35T-1.123T0.052T1.45710.824.620.7432.22412.2641.4569151.4569150NANANA0.5NA13.8333334
195567789555677895ACexonicDNAAF3NAnonsynonymous SNVexonicENSG00000167646NAnonsynonymous SNVScore=336;Name=lod=31NA19q13.42NAName=E2F6_(H-50),Pol2,STAT3,NF-YA,NF-YBNANANANANANANANANA0.000008294NA0.04D0.729P0.354B0.890N1.000D0.69N2.05T-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
27116317371163173CTexonicATP6V1B1NAnonsynonymous SNVexonicENSG00000116039NAnonsynonymous SNVScore=470;Name=lod=108NA2p13.3NANANANArs177203030.1585460.15310.18650.21470.1150.15440.18020.240.15T0.0B0.001B0.000D0.000P0.805L-1.64D-1.098T0.000T2.77215.234.892.2562.27915.5592.77212.77210.080.1677910.14049NA0.13CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000037210.1;CLNDSDB=.;CLNDSDBID=.13.8322424
174424883744248837TCexonicKANSL1NAnonsynonymous SNVexonicENSG00000120071NAnonsynonymous SNVScore=699;Name=lod=924NA17q21.31Score=782;Name=V$MEF2_02NANANArs356432160.07268370.19980.0010.13980.01130.05110.12050.190.13T0.42B0.128B0.000D1.000D0.205N2.85T-0.711T0.000T1.90712.334.972.3173.2659.2541.9071051.9071050.10.1819770.037903NA0.051NA13.8310564
149364971393649713TCexonicMOAP1NAnonsynonymous SNVexonicENSG00000165943NAnonsynonymous SNVScore=329;Name=lod=29NA14q32.12Score=926;Name=V$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
1150808445080844TCexonicOR52E2NAnonsynonymous SNVexonicENSG00000176787NAnonsynonymous SNVNANA11p15.4Score=805;Name=V$BRN2_01NANANArs169094400.3091050.32410.38290.3530.18530.35380.33690.390.01D0.963D0.601P0.000D0.947P2.125M-0.07T-0.983T0.000T2.63314.763.611.8850.7367.0022.6329362.6329360.010.3509770.220127NA0.304NA13.8213564
222615706826157068CGexonicMYO18BNAnonsynonymous SNVexonicENSG00000133454NAnonsynonymous SNVScore=521;Name=lod=175NA22q12.1NAName=GATA-2Name=5NArs617349460.07707670.18390.0020.12250.01290.09920.14190.190D0.999D0.998D0.002N0.984P1.78L-2.59D-0.843T0.003T3.53818.05-0.9020.0290.0362.6093.5379533.53795300.1893090.040301NA0.058NA13.8182244
177807348578073485GAexonicCCDC40NAnonsynonymous SNVexonicENSG00000141519NAnonsynonymous SNVNANA17q25.3Score=773;Name=V$PAX2_01NANANArs617405090.01337860.0070.0010.07780.00080.00410.01190.070.07T0.99D0.814P..0.992N1.935M0.68T-1.120T0.021T3.05716.22.421.2390.7326.3333.0566283.0566280.290.0023810.001213NA0.007CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000081928.1;CLNDSDB=.;CLNDSDBID=.13.8120524
14579508445795084GAexonicMUTYHNAnonsynonymous SNVexonicENSG00000132781NAnonsynonymous SNVNANA1p34.1Score=824;Name=V$HEN1_01Name=BAF155,Pol2Name=19NArs1401182730.004592650.008NA0.00860.00380.00410.00790.0220.04D0.908P0.351B0.638N1.000N1.1L-0.34T-0.963T0.131T0.7287.8690.173-0.0481.7416.8020.727764NA0.030.0125580.008171NA0.022CLINSIG=non-pathogenic|non-pathogenic|untested|non-pathogenic;CLNDBN=not_provided|MYH-associated_polyposis|not_specified|Neoplastic_Syndromesx2c_Hereditary;CLNREVSTAT=mult|single|not|single;CLNACC=RCV000034672.2|RCV000119200.1|RCV000121601.1|RCV000132436.1;CLNDSDB=.|GeneReviews:MedGen:OMIM:Orphanet|.|MedGen;CLNDSDBID=.|NBK107219:C1837991:608456:ORPHA220460|.|C002767213.8048754
31285749312857493CTexonicCAND2NAnonsynonymous SNVexonicENSG00000144712NAnonsynonymous SNVScore=401;Name=lod=57NA3p25.2NAName=CTCF,Rad21Name=4NArs23053970.3228830.57750.17660.3660.31540.19120.42580.570.11T0.137B0.147B0.000D0.000P2.105M2.79T-0.928T0.000T1.84112.115.122.3955.98416.0851.8410131.8410130.180.5259380.346267ID=COSM1418693,COSM1418692;OCCURENCE=1(large_intestine)0.406NA13.8040954
202526276925262769GAexonicPYGBNAnonsynonymous SNVexonicENSG00000100994NAnonsynonymous SNVScore=284;Name=lod=19NA20p11.21NAName=HA-E2F1NANArs22278910.1621410.18490.35020.12970.05140.11760.16720.340.2T0.009B0.012B0.000D0.000P1.2L-3.18D-1.124T0.000T2.44914.153.932.1827.57216.1012.4486382.4486380.140.1852760.079318NA0.094NA13.7959574
203699333336993333AGexonicLBPNAnonsynonymous SNVexonicENSG00000129988NAnonsynonymous SNVNANA20q11.23NANANANArs22326070.004592650.0129NA0.00580.00230.00310.01120.0170.01D0.987D0.842P0.023N1.000N2.54M2.4T-1.054T0.051T1.8412.114.461.1291.9259.5101.8400671.8400670.010.0167440.003404NANANA13.7924894
11959612419596124CTncRNA_exonicAKR7LNANAexonicENSG00000211454NAunknownScore=567;Name=lod=268NA1p36.13Score=808;Name=V$CEBP_CName=CTCFNANArs22357940.6649360.69180.80160.73340.39640.81080.68670.810.01D1.0D0.997D0.000D0.000P....-0.962T0.000T4.14521.43.882.1617.07714.9094.1448364.144836NA0.6634190.434249NA0.428NA13.7914143
7151680072151680072TCexonicGALNTL5NAnonsynonymous SNVexonicENSG00000106648NAnonsynonymous SNVScore=300;Name=lod=22NA7q36.1NANANANArs69602700.8011180.84490.84030.86020.7390.75770.84140.860D1.0D0.997D0.000D0.000P2.89M0.32T-1.019T0.000T3.97820.44.652.0563.52512.3493.977563.977560.010.8558140.748071NA0.812NA13.7912194
2168931636168931636CTexonicSTK39NAnonsynonymous SNVexonicENSG00000198648NAnonsynonymous SNVScore=624;Name=lod=457NA2q24.3NANANANArs560315490.006389780.0169NA0.0159NA0.00410.01080.030.25T0.599P0.266B0.000D1.000D1.7L-0.74T-0.703T0.146T4.87427.95.582.6385.93014.4174.8743654.8743650.040.014420.002011NANANA13.7912134
191585308015853080GAexonicOR10H3NAnonsynonymous SNVexonicENSG00000171936NAnonsynonymous SNVScore=403;Name=lod=58NA19p13.12NANANANArs22402290.1573480.1690.1220.1110.15050.22390.18770.20.01D1.0D0.999D0.031U0.949P3.39M1.1T-0.992T0.001T1.58311.252.371.3300.94110.3921.5827031.5827030.010.1887210.173854NA0.181NA13.7879124
63089048330890483GTexonicVARS2NAnonsynonymous SNVexonicENSG00000137411NAnonsynonymous SNVScore=504;Name=lod=149NA6p21.33Score=967;Name=V$LMO2COM_01Name=CTCFName=15NArs20745060.2220450.35590.2470.20750.09830.23620.3240.380.14T0.594P0.283B0.002N0.000P0.95L3.56T-0.906T0.010T2.05812.845.312.5053.91116.4622.0577832.0577830.310.3766160.145792NA0.283NA13.7768174
62940797029407970TCexonicOR10C1NAnonsynonymous SNVexonicENSG00000206474NAnonsynonymous SNVScore=443;Name=lod=84NA6p22.1Score=864;Name=V$NKX3A_01NANANArs20744690.1787140.18390.2490.2450.07560.19330.190.240.07T0.997D0.995D0.002U0.000P2.05M6.65T-0.668T0.003T2.17713.243.61.6340.45512.352.1770072.177007NA0.1878460.083388NA0.152NA13.7715874
29837384298373842ATexonicTMEM131NAnonsynonymous SNVexonicENSG00000075568NAnonsynonymous SNVScore=321;Name=lod=27NA2q11.2Score=790;Name=V$MIF1_01NANANArs1496309380.01238020.0239NA0.02160.01660.0010.01750.0230.13T0.731P0.241B0.001N1.000D0N1.31T-1.086T0.027T3.24416.885.482.3048.01215.7293.2436623.24366200.0227810.014971NA0.007NA13.7691524
204636563646365636CTexonicSULF2NAnonsynonymous SNVexonicENSG00000196562NAnonsynonymous SNVScore=628;Name=lod=474NA20q13.12Score=915;Name=V$SP1_Q6NANANArs562185010.07767570.21670.0010.13540.00610.06950.1430.210.31T0.002B0.004B0.000D0.003P-0.03N-4.94D-0.815T0.003T2.36213.865.442.5592.9738.5082.3624782.3624780.310.2148840.03813ID=COSM1412272;OCCURENCE=1(large_intestine)0.138NA13.7587494
3137849888137849888CTexonicA4GNTNAnonsynonymous SNVexonicENSG00000118017NAnonsynonymous SNVScore=428;Name=lod=73NA3q22.3NANANANArs797917620.01218050.03180.0040.02160.00380.00510.02050.030.62T0.993D0.62P0.002N0.725D1.355L-0.87T-0.614T0.136T2.31313.694.551.2813.79110.3312.3129662.3129660.180.0276740.007717NANANA13.7533594
11130784396130784396GAexonicSNX19NAnonsynonymous SNVexonicENSG00000120451NAnonsynonymous SNVScore=272;Name=lod=17NA11q24.3NANANANArs626212840.1275960.19880.15380.08930.04920.16050.17520.210.37T1.0D0.978D0.022N0.000P2.075M2.51T-1.163T0.000T3.04216.155.632.6606.28417.8543.0419153.0419150.010.2080520.071558NA0.217NA13.7512814
63628731236287312GCexonicC6orf222NAnonsynonymous SNVexonicENSG00000189325NAnonsynonymous SNVNANA6p21.31NAName=c-Myc,Max,CTCF,ZNF263Name=8NArs7438520.3883790.55960.21830.36890.37370.42130.47560.560.02D1.0D0.993D0.002N0.993P2.42M0.02T-0.454T0.289T3.70418.823.61.3980.8537.0433.7043163.704316NA0.5561630.397186NA0.449NA13.7419704
214351043743510437AGexonicUMODL1NAnonsynonymous SNVexonicENSG00000177398NAnonsynonymous SNVNANA21q22.3NANANANArs171143590.07907350.0467NA0.03310.21480.04290.04860.110.04D0.983D0.79P0.878N1.000P0.695N-2.96D0.127D0.695D1.71411.691.510.1881.8648.6931.7141011.7141010.11NANANA0.08NA13.7380334
124850116148501161ATexonicPFKMNAnonsynonymous SNVexonicENSG00000152556NAnonsynonymous SNVScore=441;Name=lod=83NA12q13.11Score=809;Name=V$BRN2_01Name=PAX5-N19,PAX5-C20Name=9NArs116093990.356230.1620.64680.45680.2330.35170.26630.60.05D....0.209N0.000P0N-1.33T-0.924T0.000T1.0369.231-2.34-0.434-1.2328.6611.035795NA00.1698770.227679NA0.203NA13.7351564
172609659726096597GAexonicNOS2NAnonsynonymous SNVexonicENSG00000007171NAnonsynonymous SNVScore=458;Name=lod=97NA17q11.2Score=816;Name=V$GFI1_01NANANArs22975180.1653350.23160.15180.17440.12710.15640.17770.230.16T0.918P0.623P0.001D0.001P1.315L-0.83T-1.190T0.000T3.4117.525.272.4646.20417.4603.4095413.4095410.050.1953490.113482NA0.174NA13.7286844
12123806219123806219CTexonicSBNO1NAnonsynonymous SNVexonicENSG00000139697NAnonsynonymous SNVScore=594;Name=lod=346NA12q24.31NANANANArs10601050.1246010.22270.0020.18880.05140.20350.1870.230.48T0.981D0.943D0.000D0.000P1.39L1.45T-1.120T0.000T4.06520.95.482.5516.92119.3614.0648274.0648270.170.1974420.082388NA0.145NA13.7261914
115151600051516000CTexonicOR4C46NAnonsynonymous SNVexonicENSG00000185926NAnonsynonymous SNVScore=397;Name=lod=55NA11p11.12NANANANArs112466070.4333070.54670.54270.58930.2020.40590.51830.60.01D0.884P0.68P0.000D0.917P3.045M1.1T-0.903T0.000T1.46110.832.331.3455.27310.4621.4606061.4606060.010.5456240.261018NA0.341NA13.7227094
125681465356814653GAexonicTIMELESSNAnonsynonymous SNVexonicENSG00000111602NAnonsynonymous SNVScore=436;Name=lod=79NA12q13.3NANANANArs22917390.3915730.56360.27680.37030.31240.4550.49240.560.06T1.0D0.977D0.000D0.000P1.955M2.69T-0.871T0.000T3.54118.075.42.7089.17018.3183.541193.541190.10.5565120.35429NA0.464NA13.7208214
124891965948919659TCexonicOR8S1NAnonsynonymous SNVexonicENSG00000197376NAnonsynonymous SNVScore=278;Name=lod=18NA12q13.11NANANANArs40752580.5782750.51390.69050.65990.48490.59710.57440.710D1.0D0.992D0.006N0.000P3.885H7.41T-1.097T0.000T3.83119.465.032.1054.30212.7623.8313713.83137100.530930.495461NA0.246NA13.7141034
104405290344052903ACexonicZNF239NAnonsynonymous SNVexonicENSG00000196793NAnonsynonymous SNVScore=284;Name=lod=19NA10q11.21NAName=SETDB1NANArs22306610.5449280.53080.55060.5130.49170.64830.55730.580.01D0.998D0.991D..0.157P3.895H-0.97T-0.961T0.000T1.9212.382.880.9004.4527.2811.9200411.9200410.030.5345810.532512NA0.543NA13.7106524
63123890931238909GAexonicHLA-CNAnonsynonymous SNVexonicENSG00000204525NAnonsynonymous SNVNANA6p21.33NAName=Pol2-4H8NANArs10506860.3787940.31410.36410.37610.4130.41620.3147NA0.05D0.925P0.676P0.000U1.000N3.535H5.67T-0.885T0.004T-0.6661.083-5.41-5.533-9.3177.012-0.666291NA0.03NANANANANA13.7045334
51381177513811775TCexonicDNAH5NAnonsynonymous SNVexonicENSG00000039139NAnonsynonymous SNVScore=414;Name=lod=64NA5p15.2NANANANArs100783910.2621810.21470.55850.17580.18840.16670.21490.510.02D0.389B0.194B0.000D0.000P2.65M1.79T-0.922T0.000T2.7315.095.782.2047.97716.1192.7303162.7303160.010.2047670.201543NA0.261NA13.6989664
223089129430891294GCexonicSEC14L4NAnonsynonymous SNVexonicENSG00000133488NAnonsynonymous SNVScore=355;Name=lod=37NA22q12.2Score=985;Name=V$STAT3_02NANANArs96067390.1485620.22960.03970.28390.10820.1360.19530.230.33T0.868P0.525P0.000D0.000P1.7L-0.99T-1.115T0.000T1.89812.32.621.1612.70711.6741.897921.8979200.2252330.12778NA0.065NA13.6832004
2223559089223559089TCexonicMOGAT1NAnonsynonymous SNVexonicENSG00000124003NAnonsynonymous SNVScore=361;Name=lod=39NA2q36.1Score=852;Name=V$IRF7_01NANANArs18680240.2298320.23360.11610.23490.36540.15640.21350.340.37T0.022B0.104B0.000D0.000P1.025L-2.93D-1.104T0.000T-1.2470.0522.961.0492.6517.694-1.247371NA0.410.2183910.343432NA0.232NA13.6678424
116089323560893235CTexonicCD5NAnonsynonymous SNVexonicENSG00000110448NAnonsynonymous SNVScore=423;Name=lod=70NA11q12.2NANANANArs22291770.6910940.55170.98810.66280.50830.79550.61050.990.01D1.0D0.952D0.000D0.010P1.04L1.49T-1.050T0.000T4.12921.35.012.3134.53416.4824.1293684.12936800.5033730.530413ID=COSM1355182;OCCURENCE=1(large_intestine)0.681NA13.6677604
146455773464557734ACexonicSYNE2NAnonsynonymous SNVexonicENSG00000054654NAnonsynonymous SNVScore=425;Name=lod=71NA14q23.2NANANANArs101379720.09245210.04670.08430.0490.18840.04910.06590.20.12T0.958D0.66P0.000D0.000P1.79L4.53T-1.097T0.000T1.88512.263.420.4495.9868.4501.8845591.8845590.580.0554650.146391NA0.123CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118501.1;CLNDSDB=.;CLNDSDBID=.13.6652684
1236413230236413230TAexonicERO1LBNAnonsynonymous SNVexonicENSG00000086619NAnonsynonymous SNVScore=369;Name=lod=42NA1q42.3Score=694;Name=V$PPARG_02NANANArs24775990.3354630.60140.13290.36460.13540.52040.47910.620.05D0.92P0.491P0.000D0.000P1.59L0.88T-0.890T0.000T3.23616.854.721.0254.28211.2043.236063.236060.050.595970.194823NA0.341NA13.6568634
125324244053242440AGexonicKRT78NAnonsynonymous SNVexonicENSG00000170423NAnonsynonymous SNVScore=363;Name=lod=40NA12q13.13NANANANArs20133350.5153750.57850.51880.55190.29650.71680.54690.570D1.0D0.998D..0.000P3.45M-1.2T-0.972T0.000T3.94220.25.182.0817.51014.1533.9421073.94210700.5541860.341126NA0.493NA13.6537474
1111861974111861974TCexonicCHIANAnonsynonymous SNVexonicENSG00000134216NAnonsynonymous SNVScore=548;Name=lod=224NA1p13.2NAName=NFKBNANArs22752540.4422920.59540.380.30980.31540.61450.50820.620.02D1.0D0.997D0.099N0.215P3.275M3.4T-1.055T0.046T2.52214.393.80.7963.4659.3552.5215852.5215850.050.5762790.34975NA0.464NA13.6534544
134149561841495618CGncRNA_exonicSUGT1P3NANAncRNA_exonicENSG00000168852,ENSG00000239827NANAScore=423;Name=lod=70NA13q14.11Score=807;Name=V$AHR_01Name=GATA-1,Pol2(b),Rad21,TAF1,Pol2,CTCF,Pol2-4H8Name=116NArs1494679000.003594250.0089NA0.00290.00080.00610.00930.010D......0.970N....-0.918T0.134T2.66414.873.262.1171.33312.2832.664112.664110NANANANANA13.6484666
7138602916138602916GCexonicKIAA1549NAnonsynonymous SNVexonicENSG00000122778NAnonsynonymous SNVScore=309;Name=lod=24NA7q34NANANANArs27181310.2104630.25550.06550.15560.3880.11250.2150.40.18T1.0D0.998D0.000D0.001P1.04L0.21T-0.975T0.000T2.42514.074.582.3884.55714.7062.424822.424820.040.2300650.36266NA0.261NA13.6327684
191932992419329924CTexonicNCANNAnonsynonymous SNVexonicENSG00000130287NAnonsynonymous SNVScore=536;Name=lod=201NA19p13.11NANANANArs22286030.04392970.06760.05560.02310.00610.07360.06430.0740.72T0.957D0.752P0.002N1.000D0.315N4.33T-0.601T0.001T2.38213.924.662.1191.31915.0422.3821162.3821160.230.074070.013845ID=COSM439006,COSM439007;OCCURENCE=2(breast)0.051NA13.6273634
1151062957151062957GAexonicGABPB2NAnonsynonymous SNVexonicENSG00000143458NAnonsynonymous SNVScore=585;Name=lod=318NA1q21.3NANANANArs112047740.05491210.0656NA0.03460.13390.00820.06020.150.25T0.915P0.93D0.000D0.000P0.68N1.04T-1.059T0.114T3.8619.615.462.8619.36818.0973.8604543.8604540.170.0819770.150931NA0.058NA13.6255564
135252448852524488TCexonicATP7BNAnonsynonymous SNVexonicENSG00000123191NAnonsynonymous SNVScore=432;Name=lod=76NA13q14.3NANANANArs10614720.5023960.59540.40080.47690.49770.53580.53840.590.09T0.954P0.789P0.000D0.000P0.16N-2.64D-0.931T0.000T3.41717.555.542.1076.20615.6573.4167693.4167690.140.5863370.483719NA0.464CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Wilson's_disease|not_specified;CLNREVSTAT=single|single;CLNACC=RCV000029356.1|RCV000078043.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.;CLNDSDBID=NBK1512:C0019202:277900:ORPHA905:88518009|.13.6131964
3121415720121415720TCexonicGOLGB1NAnonsynonymous SNVexonicENSG00000173230NAnonsynonymous SNVScore=272;Name=lod=17NA3q13.33NANANANArs37324100.2198480.25050.48410.15850.05220.18610.23110.470.17T0.999D0.969D0.000D0.154P0.975L2.09T-0.897T0.000T1.34910.434.592.2101.96610.8521.3494151.3494150.240.2456980.074217NA0.138NA13.6060354
222446838624468386GAexonicCABIN1NAnonsynonymous SNVexonicENSG00000099991NAnonsynonymous SNVScore=557;Name=lod=244NA22q11.23NANANANArs178548740.06130190.09740.15870.03170.00380.02250.06280.170.31T0.996D0.638P0.000D0.000P1.845L0.34T-1.132T0.001T3.14816.534.572.3005.90316.8003.1481963.1481960.080.0712790.015887NA0.123NA13.6018544
158544887585448875CAexonicSLC28A1NAnonsynonymous SNVexonicENSG00000156222NAnonsynonymous SNVScore=446;Name=lod=87NA15q25.3NANANANArs81877580.3005190.23660.30750.36460.15730.50720.27380.350.39T0.999D0.999D0.000D0.000P1.475L2.6T-0.895T0.000T1.29210.234.032.2405.57511.8821.2920381.2920380.120.2240060.170676NA0.29NA13.5989274
201003045210030452GAexonicANKEF1NAnonsynonymous SNVexonicENSG00000132623NAnonsynonymous SNVScore=441;Name=lod=83NA20p12.2NANANANArs5246250.1956870.26040.00690.15560.27990.23820.22020.260.33T1.0D0.973D0.000D0.000P1.625L-0.13T-1.184T0.000T2.00612.665.862.9371.84120.5632.0058792.0058790.260.2587850.262381NA0.159NA13.5939484
191403879114038791CTexonicCC2D1ANAnonsynonymous SNVexonicENSG00000132024NAnonsynonymous SNVScore=405;Name=lod=59NA19p13.12NANANANArs23057770.1250.26440.06150.18160.01740.15240.21040.270.16T1.0D0.992D0.001N0.015P1.185L1.98T-1.014T0.000T3.10616.385.222.4473.94513.3123.1057793.1057790.130.2671980.043783NA0.21CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116591.2;CLNDSDB=.;CLNDSDBID=.13.5913354
11108040484108040484GTexonicNPATNAnonsynonymous SNVexonicENSG00000149308NAnonsynonymous SNVScore=468;Name=lod=106NA11q22.3NANANANArs340528820.04253190.08550.01190.04030.00680.07980.06860.0950.01D0.925P0.439B0.000D0.992D2.175M3.55T-0.985T0.001T3.08716.312.460.3250.8274.8033.0868523.0868520.030.094830.018589NA0.007NA13.5844034
73079533130795331AGexonicINMTNAnonsynonymous SNVexonicENSG00000241644NAnonsynonymous SNVScore=376;Name=lod=45NA7p14.3NAName=p300,CTCF,NRSFNANArs23023400.3292730.42940.54760.50860.0590.23930.4040.550.07T0.969D0.847P0.002N0.015P2.24M2.77T-0.926T0.000T3.19116.683.671.6353.45210.6013.1907173.1907170.110.415930.125511ID=COSM150255;OCCURENCE=1(stomach)0.261NA13.5840034
6117724379117724379CTexonicROS1NAnonsynonymous SNVexonicENSG00000047936NAnonsynonymous SNVScore=473;Name=lod=112NA6q22.1NANANANArs22433800.05011980.09340.04070.08650.00380.05210.0710.10.06T0.908P0.222B0.000D0.000P2.125M0.24T-0.846T0.102T3.88119.724.442.6872.6439.6533.8805343.8805340.10.0917440.01793NA0.101NA13.5771894
1201934578201934578GAexonicTIMM17ANAnonsynonymous SNVexonicENSG00000134375NAnonsynonymous SNVScore=524;Name=lod=179NA1q32.1Score=812;Name=V$CDPCR3_01NANANArs46480.06150160.08550.03770.07930.03480.08490.07940.0910.35T0.456P0.307B0.000D0.000P0.975L1.53T-1.083T0.004T2.96315.885.362.6636.12116.9252.9626822.9626820.40.0912790.046074ID=COSM146732;OCCURENCE=1(stomach)0.138NA13.5771544
152236886222368862GAexonicOR4M2NAnonsynonymous SNVexonicENSG00000182974NAnonsynonymous SNVNANA15q11.2NAName=GATA3_(SC-268)NANArs1835183NANANANANANA0.62770.690.04D0.97D0.735P0.000D1.000P2.42M2.95T-1.046T0.000T2.14613.132.51.4220.39410.8082.1464212.1464210.010.6352330.41035NA0.652NA13.5704004
410187051018705CAexonicFGFRL1NAnonsynonymous SNVexonicENSG00000127418NAnonsynonymous SNVScore=278;Name=lod=18NA4p16.3Score=840;Name=V$RREB1_01NANANArs46479300.1369810.26740.08230.13830.0310.20140.22810.270.16T0.105B0.03B0.000D0.000P1.355L-1.89D-1.107T0.000T2.61514.73.860.9882.05611.9102.6149392.6149390.350.2696880.074192NA0.138NA13.5681454
221890596418905964CTexonicPRODHNAnonsynonymous SNVexonicENSG00000100033NAnonsynonymous SNVScore=588;Name=lod=328NA22q11.21NANANANArs29045520.04293130.10540.0010.05760.02340.03780.07940.10.16T0.996D0.87P0.000N0.999D2.34M1.31T-1.182T0.006T3.91419.911.160.4741.1788.7393.9138713.91387100.1046510.036558NA0.022CLINSIG=pathogenic|other;CLNDBN=Proline_dehydrogenase_deficiency|Schizophrenia_4;CLNREVSTAT=single|single;CLNACC=RCV000004224.1|RCV000004225.1;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM;CLNDSDBID=C0268529:239500:ORPHA419:61071003|C1833247:60085013.5438824
129560429095604290TCexonicFGD6NAnonsynonymous SNVexonicENSG00000180263NAnonsynonymous SNVNANA12q22Score=784;Name=V$YY1_02NANANArs105070470.1285940.07750.23310.15710.09830.09410.11730.240.09T0.483P0.084B0.000D1.000P1.935M-0.45T-1.075T0.000T0.18654.851.0931.9557.7200.185724NA0.030.0972090.095778ID=COSM1128444;OCCURENCE=1(prostate)0.094NA13.5413244
927186542718654GAexonicKCNV2NAsynonymous SNVexonicENSG00000168263NAsynonymous SNVScore=600;Name=lod=366NA9p24.2Score=1000;Name=V$USF_CNAName=4NArs78599930.02655750.0467NA0.03170.03860.01330.03560.050.03D......1.000D....-0.820T0.066T0.8588.4714.182.3620.31411.4250.85755NA00.0498950.040891NA0.022NA13.5344716
93571200335712003GAexonicTLN1NAnonsynonymous SNVexonicENSG00000137076NAnonsynonymous SNVScore=615;Name=lod=420NA9p13.3Score=916;Name=V$AP1FJ_Q2Name=c-Myc,AP-2gamma,ERalpha_aName=14NArs22957950.2014780.27040.33830.2680.01970.18810.24980.370.25T0.002B0.001B0.010N0.000P1.7L2.71T-0.915T0.000T2.999164.921.4667.69516.3892.9993362.9993360.20.280.06355NA0.188NA13.5331334
109544127295441272GAexonicFRA10AC1NAnonsynonymous SNVexonicENSG00000148690NAnonsynonymous SNVScore=403;Name=lod=58NA10q23.33Score=851;Name=V$HAND1E47_01NANANArs111875830.08166930.11930.03370.09650.0930.06650.09320.130.02D0.91P0.424B0.002N0.953P1.845L1.81T-1.107T0.001T2.73415.15.172.5724.74815.7462.734052.734050.010.1132820.087421NA0.058NA13.5075514
172120421021204210CTexonicMAP2K3NAstopgainexonicENSG00000034152NAstopgainScore=586;Name=lod=320NA17p11.2NANANANArs55796947NANANANANANA0.49970.50.74T....0.000D1.000A........4.87627.95.082.3595.82618.4824.8762264.8762260.78NANANA0.5NA13.5003
124835998448359984CTexonicTMEM106CNAnonsynonymous SNVexonicENSG00000134291NAnonsynonymous SNVScore=363;Name=lod=40NA12q13.11NANANANArs22860250.1683310.10140.3760.33720.00380.12580.15150.39..0.985D0.831P0.000D0.000P1.59L2.03T-0.903T0.000T3.29817.083.471.4093.08213.8083.298023.298020.010.0996510.023831NA0.101NA13.4807824
1717035431703543GCexonicSMYD4NAnonsynonymous SNVexonicENSG00000186532NAnonsynonymous SNVNANA17p13.3Score=879;Name=V$OCT1_03NANANArs38098750.2793530.27730.19050.23050.39260.25460.27790.410.51T0.986D0.936D0.016N1.000P2.105M2.92T-0.857T0.000T1.62611.44.832.9413.50016.8521.6262841.62628400.3003490.393327NA0.391NA13.4777844
28891327388913273GCexonicEIF2AK3NAnonsynonymous SNVexonicENSG00000172071NAnonsynonymous SNVScore=558;Name=lod=247NA2p11.2Score=828;Name=V$RFX1_01NANANArs8675290.2805510.29820.48510.33430.01660.37010.29830.480.17T0.002B0.003B0.000D0.000P0.995L1.51T-0.898T0.000T2.52714.415.382.5075.70419.1382.5273712.5273710.240.2702330.058103NA0.196CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000116969.2;CLNDSDB=.;CLNDSDBID=.13.4666004
176505230465052304GAexonicCACNG1NAnonsynonymous SNVexonicENSG00000108878NAnonsynonymous SNVScore=272;Name=lod=17NA17q24.2NANANANArs17999380.09444890.13220.08730.170.00830.12580.11960.150.03D0.956P0.368B0.000N0.000P2.665M-0.5T-0.912T0.003T3.33817.234.031.2447.60612.7183.3375533.3375530.030.1150.024739NA0.13NA13.4665334
223068865930688659CTexonicTBC1D10ANAnonsynonymous SNVexonicENSG00000099992NAnonsynonymous SNVScore=389;Name=lod=51NA22q12.2NANANANArs48230860.04532750.14610.0010.06920.00450.02560.09090.140.05D0.99D0.469P0.003N0.000P1.61L3.51T-1.019T0.000T2.52514.45.512.7681.72612.1902.5249252.5249250.140.1367440.026101NA0.159NA13.4595894
214998991499899CTexonicTPONAsynonymous SNVexonicENSG00000115705NAsynonymous SNVNANA2p25.3Score=839;Name=V$NFKB_Q6Name=AP-2gammaName=7NArs7326080.4388980.40160.40870.42650.43490.52250.41090.460D....0.000D0.000P..-0.65T-0.999T0.000T-1.380.025-5.71-1.146-1.5592.751-1.379854NANA0.3984880.441443ID=COSM1685440;OCCURENCE=1(skin)0.406NA13.4556786
26860794768607947GTexonicPLEKNAnonsynonymous SNVexonicENSG00000115956NAnonsynonymous SNVScore=645;Name=lod=555NA2p13.3NANANANArs38162810.4271170.27040.68850.4150.29580.50510.35370.670.46T0.999D0.947D0.000D0.000P0.565N2.73T-1.123T0.000T3.32917.24.01.4692.1729.8953.3288373.3288370.410.2570930.288243NA0.333NA13.4521404
191022454810224548GAexonicP2RY11,PPAN-P2RY11NAnonsynonymous SNVexonicENSG00000130810,ENSG00000243207,ENSG00000244165NAnonsynonymous SNVScore=474;Name=lod=113NA19p13.2NAName=Pol2-4H8,Pol2Name=38NArs37456010.1825080.10830.33040.15850.11420.21570.15920.340.39T0.992D0.788P0.670U0.000P1.46L1.17T-0.975T0.000T3.23916.863.532.411-0.04411.8123.2394993.2394990.020.1137470.108715NA0.08NA13.4520864
4189061106189061106GAexonicTRIML1NAnonsynonymous SNVexonicENSG00000184108NAnonsynonymous SNVScore=329;Name=lod=29NA4q35.2NANAName=4NArs131315250.2555910.46720.06550.49420.11570.25360.43830.50.01D0.99D0.868P0.038N0.023P1.79L0.06T-0.898T0.000T2.18813.274.852.6252.60714.1952.1879112.1879110.150.5005810.178166NA0.333NA13.4272524
148840788888407888AGexonicGALCNAnonsynonymous SNVexonicENSG00000054983NAnonsynonymous SNVNANA14q31.3NANANANArs3986070.4474840.48810.23120.3790.64520.410.44060.610.03D0.656P0.345B0.002N0.992P1.905M-3.33D-1.005T0.000T3.95120.25.732.1959.27016.0263.9509393.9509390.040.4812820.614208NA0.428CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000078194.1;CLNDSDB=.;CLNDSDBID=.13.4233514
1151735576151735576TCexonicMRPL9NAnonsynonymous SNVexonicENSG00000143436NAnonsynonymous SNVNANA1q21.3Score=804;Name=V$CEBP_CName=ELF1_(SC-631),CTCF,c-Myc,Pol2Name=39NArs70070.1224040.13220.11010.1210.12710.11960.13920.140.12T0.937P0.347B0.008N0.000P1.955M1.36T-1.085T0.045T2.52814.413.70.8611.0768.5322.52782.52780.210.1395670.116205NA0.051NA13.4223664
63872951138729511TCexonicDNAH8NAnonsynonymous SNVexonicENSG00000124721NAnonsynonymous SNVScore=559;Name=lod=250NA6p21.2Score=835;Name=V$POU6F1_01NANANArs617486000.08386580.13720.01980.23340.04690.03890.12880.220.21T0.429B0.46P0.000D0.000P1.81L0.35T-0.865T0.141T4.11521.26.02.2974.28714.0314.1147534.1147530.10.152710.063323NA0.188NA13.4146234
171549672715496727TGexonicCDRT1NAnonsynonymous SNVexonicENSG00000241322NAnonsynonymous SNVScore=625;Name=lod=464NA17p12NANANANArs793851000.1970850.12130.23310.2810.19360.1830.17030.26..0.995D0.908P..0.000P1.905M2.13T-1.043T0.000T3.41617.553.611.7814.7849.8863.416433.416430.010.1282560.188379NA0.181NA13.4134774
204274724742747247CTexonicJPH2NAnonsynonymous SNVexonicENSG00000149596NAnonsynonymous SNVScore=510;Name=lod=158NA20q13.12Score=679;Name=V$P53_01NANANArs38105100.2703670.11630.35710.10090.39330.29350.18460.380.19T0.967D0.605P0.097N0.000P1.53L0.06T-1.000T0.000T4.19521.73.841.0054.05011.6544.1947214.1947210.120.1289530.330232ID=COSM1411944;OCCURENCE=1(large_intestine)0.319NA13.4034804
34195285241952852TCexonicULK4NAnonsynonymous SNVexonicENSG00000168038NAnonsynonymous SNVScore=358;Name=lod=38NA3p22.1NANANANArs352639170.08406550.1660.0020.09080.06350.10740.12440.180.03D0.917P0.437B0.275N0.000P2.175M0.42T-1.026T0.001T4.16421.55.221.9795.41114.1264.164154.164150.010.150220.077154NA0.13NA13.3927134
882342198234219GAexonicSGK223NAnonsynonymous SNVexonicENSG00000182319NAnonsynonymous SNVNANA8p23.1NAName=Pol2NANArs48409550.4532750.30020.64090.43230.3880.52040.38550.640.05D0.123B0.023B0.000D0.422P1.935M0.23T-0.899T0.000T2.4414.124.912.4464.2507.8192.4403342.4403340.210.2740960.319891NANANA13.3735374
154317079343170793AGexonicTTBK2NAnonsynonymous SNVexonicENSG00000128881NAnonsynonymous SNVScore=544;Name=lod=217NA15q15.2NAName=TAL1_(SC-12984)Name=11NArs64930680.5147760.28030.41570.28670.95920.41920.37840.950.35T0.0B0.0B..0.001P-0.11N1.21T-1.008T0.000T2.47414.235.291.2425.23714.2102.4743632.4743630.140.3039830.811663NA0.58CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000118718.2;CLNDSDB=.;CLNDSDBID=.13.3706504
11880793818807938CAexonicKLHDC7ANAnonsynonymous SNVexonicENSG00000179023NAnonsynonymous SNVNANA1p36.13Score=913;Name=V$SPZ1_01Name=TCF12,PAX5-N19,ERalpha_aName=11NArs29927540.2667730.12520.6230.24640.1740.18510.20140.620.47T0.845P0.421B0.242U1.000P0.345N-0.84T-0.985T0.000T2.78515.275.42.6802.05216.2412.7849932.7849930.860.1434340.191679NA0.167NA13.3632994
12121435427121435427GAexonicHNF1ANAnonsynonymous SNVexonicENSG00000135100NAnonsynonymous SNVScore=586;Name=lod=322NA12q24.31Score=785;Name=V$TAXCREB_02NANANArs24641960.3176920.31610.47320.35010.1120.41410.34650.520.14T0.106B0.147B0.000N0.000P1.245L-4.39D-1.097T0.000T1.92512.393.530.9761.52710.4951.9246441.9246440.060.3111630.122787NA0.196CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000117227.3|RCV000125374.1;CLNDSDB=.|.;CLNDSDBID=.|.13.3595704
116402663964026639GAexonicPLCB3NAnonsynonymous SNVexonicENSG00000149782NAnonsynonymous SNVScore=376;Name=lod=45NA11q13.1Score=777;Name=V$E2F_01NANANArs121464870.0768770.15510.05650.08360.02720.07980.16530.160.14T0.983D0.782P0.001N0.000P1.245L0.62T-1.100T0.001T4.075214.612.1123.4599.9774.0749224.0749220.010.1576120.05553NA0.116NA13.3553214
159851384598513845TCexonicARRDC4NAnonsynonymous SNVexonicENSG00000140450NAnonsynonymous SNVScore=499;Name=lod=142NA15q26.3NANAName=3NArs21308820.4191290.48110.54860.50430.05450.65440.50210.560.49T0.998D0.878P0.000D0.002P1.345L3.05T-0.998T0.000T2.48414.264.350.9943.88612.0812.4837972.4837970.490.5074450.116295ID=COSM1375590;OCCURENCE=1(large_intestine)0.435NA13.3426884
8101718987101718987GAexonicPABPC1NAsynonymous SNVexonicENSG00000070756NAsynonymous SNVScore=624;Name=lod=459NA8q22.3Score=824;Name=V$AP4_01Name=CTCF_(SC-5916)Name=2Score=67;Name=2348421_0_+_67rs62513923NANANANANANA0.332NA........1.000D....-0.946T0.162T1.41910.68-2.54-0.6810.3537.0451.4191341.419134NANANANANANA13.3346666
6136597281136597281ATexonicBCLAF1NAnonsynonymous SNVexonicENSG00000029363NAnonsynonymous SNVScore=841;Name=lod=3476NA6q23.3NANANANArs1967445NANANANANANA0.49880.490.54T0.99D0.723P0.039N1.000D1.15L2.48T-1.000T0.018T1.2079.9024.060.9581.6328.5391.207187NA0.01NANANA0.486NA13.3345334
6136597288136597288ACexonicBCLAF1NAnonsynonymous SNVexonicENSG00000029363NAnonsynonymous SNVScore=841;Name=lod=3476NA6q23.3NANANANArs1967446NANANANANANA0.49890.490.62T0.886P0.439B0.000D1.000D0.69N2.62T-0.952T0.013T1.73611.775.212.1114.11114.0191.7364711.7364710.64NANANA0.486NA13.3344334
1144922583144922583GAexonicPDE4DIPNAnonsynonymous SNVexonicENSG00000178104NAnonsynonymous SNVScore=471;Name=lod=109NA1q21.1Score=874;Name=V$BACH2_01NANANArs1359300NANANANANANA0.50.50.01D0.723P0.172B..1.000D0.69N4.82T-0.958T0.009T2.11513.033.20.8962.1524.7762.1150892.1150890.07NANANA0.5NA13.3333334
1031415423141542GAexonicPFKPNAnonsynonymous SNVexonicENSG00000067057NAnonsynonymous SNVScore=476;Name=lod=115NA10p15.2NAName=CEBPB,STAT3Name=93NANANANANANANANANANA0.07T0.063B0.069B0.010N1.000D-0.255N-1.35T-0.879T0.222T3.06116.220.5190.0602.31110.3293.0611383.0611380.42NANANANANA13.3333334
125786347957863479CGexonicGLI1NAnonsynonymous SNVexonicENSG00000111087NAnonsynonymous SNVScore=461;Name=lod=100NA12q13.3Score=688;Name=V$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=SMC3_(ab9263),CTCF_(SC-5916),Rad21,CTCF,CTCF_(C-20)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
155264356452643564GAexonicMYO5ANAnonsynonymous SNVexonicENSG00000197535NAnonsynonymous SNVScore=378;Name=lod=46NA15q21.2NAName=CEBPBNANArs10582190.1485620.18190.17160.14990.09910.15640.15430.210.01D0.997D0.648P0.006N0.000P0N3.53T-1.013T0.000T3.70918.842.260.7342.5038.5873.708963.7089600.1675430.102475NA0.174NA13.3295904
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
11116728630116728630GCexonicSIK3NAnonsynonymous SNVexonicENSG00000160584NAnonsynonymous SNVScore=532;Name=lod=193NA11q23.3NANANANArs122252300.1707270.15110.09720.19020.15130.27910.1870.190D0.967D0.663P0.001U0.001P0.805L1.37T-1.055T0.001T1.65311.495.542.5855.06513.7451.653341.6533400.1731840.136983NA0.065NA13.3220494
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
83969567739695677CAexonicADAM2NAnonsynonymous SNVexonicENSG00000104755NAnonsynonymous SNVNANA8p11.22NANANANArs348005190.02635780.003NA0.01010.0923NA0.00750.1..1.0D0.999D..1.000N2.52M5.24T-1.098T0.001T2.75215.163.262.1141.10410.2852.7518272.75182700.001860.067862NA0.007NA13.3209734
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,USF-1,SP1,IRF1,E2F6_(H-50),TAF1Name=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
154181971641819716CTexonicRPAP1NAnonsynonymous SNVexonicENSG00000103932NAnonsynonymous SNVScore=432;Name=lod=76NA15q15.1NANANANArs12003450.5099840.51790.35120.56920.64370.44270.50730.650.06T0.995D0.454P0.000D0.000P2.62M-0.2T-0.875T0.000T4.64325.55.372.6925.64718.2514.6428654.6428650.010.5037210.63232ID=COSM147884;OCCURENCE=1(stomach)0.493NA13.3044124
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
107251783072517830GAexonicADAMTS14NAnonsynonymous SNVexonicENSG00000138316NAnonsynonymous SNVScore=410;Name=lod=62NA10q22.1Score=782;Name=V$MYOGNF1_01Name=CCNT2NANArs109995160.2134580.18490.370.22620.15430.15240.18820.370.7T0.464P0.288B0.057N0.952P-0.785N0.65T-0.978T0.000T1.70311.653.392.2502.3735.8641.7029811.7029810.320.160930.174535NA0.261NA13.2993034
8128428823128428823GCexonicPOU5F1BNAnonsynonymous SNVexonicENSG00000212993NAnonsynonymous SNVScore=251;Name=lod=14NA8q24.21NANANANArs70022250.4840260.52390.59820.60230.24280.56750.51060.620.06T1.0D1.0D0.000D0.000P2.89M-3.95D-1.005T0.000T2.88115.60.2010.0776.5555.4552.8806292.8806290NANANA0.507NA13.2988334
27174089771740897CAexonicDYSFNAnonsynonymous SNVexonicENSG00000135636NAnonsynonymous SNVScore=452;Name=lod=92NA2p13.2NAName=ZNF263NANArs349990290.004193290.0109NA0.01010.00080.0020.00980.0220.99T0.187B0.278B0.032N0.969N0.55N-1.61D-0.847T0.208T0.6117.2913.51.1420.09812.7830.611124NA0.760.0153490.000681NA0.014CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000080300.3;CLNDSDB=.;CLNDSDBID=.13.2972844
168218241882182418TCexonicMPHOSPH6NAnonsynonymous SNVexonicENSG00000135698NAnonsynonymous SNVScore=538;Name=lod=204NA16q23.3NANANANArs343753240.004193290.01590.0010.0029NA0.0020.00890.020.07T0.346B0.077B0.000D1.000D1.39L0.87T-1.072T0.052T3.40817.515.842.2325.87415.3763.4080343.4080340.090.0154650.003862NA0.007NA13.2930684
165570349855703498CTexonicSLC6A2NAnonsynonymous SNVexonicENSG00000103546NAnonsynonymous SNVScore=461;Name=lod=100NA16q12.2Score=711;Name=V$HOX13_01NANANArs18050650.005591050.0129NA0.01440.00150.00310.00940.0180.82T0.001B0.008B0.000D1.000D-0.205N-0.71T-0.942T0.064T1.40110.624.92.7780.9238.9671.4008081.4008080.510.0183720.004777NANANA13.2926614
62932390529323905ACexonicOR5V1NAnonsynonymous SNVexonicENSG00000243729NAnonsynonymous SNVNANA6p22.1NANANANArs69300330.2511980.170.40380.24780.16720.29350.21130.40.05D0.997D0.817P0.205N1.000P2.325M3.42T-1.124T0.029T2.86915.564.371.9531.17413.6642.868852.868850.120.1602980.148089NA0.261NA13.2917354
174660795846607958TAexonicHOXB1NAnonsynonymous SNVexonicENSG00000120094NAnonsynonymous SNVNANA17q21.32NANANANArs129398110.1144170.19280.09820.10230.06510.12580.16220.20.03D0.641P0.19B0.001D1.000P1.625L-2.58D-0.903T0.001T0.8488.428-5.68-1.633-1.05011.7970.847945NA0.180.1884880.077848NA0.174NA13.2898454
11124440362124440362CGexonicOR8A1NAnonsynonymous SNVexonicENSG00000196119NAnonsynonymous SNVScore=366;Name=lod=41NA11q24.2NANANANArs558618660.2721650.35980.26590.38470.07260.37830.33680.380D0.956P0.836P0.000D0.046P3.635H4.98T-0.988T0.000T3.55318.123.170.7073.4017.4853.5527233.55272300.3471740.131304NA0.254NA13.2895594
1186026474186026474TCexonicHMCN1NAnonsynonymous SNVexonicENSG00000143341NAnonsynonymous SNVScore=567;Name=lod=270NA1q31.1Score=857;Name=V$E4BP4_01NANANArs121296500.5299520.4960.56750.61240.53930.4550.53890.60.05D0.918P0.446B0.000N0.000P2.76M-0.64T-0.910T0.000T3.5718.194.671.0205.74311.7653.5695213.5695210.040.5101160.555152NA0.514NA13.2883174
99705531097055310CTexonicZNF169NAnonsynonymous SNVexonicENSG00000175787NAnonsynonymous SNVScore=289;Name=lod=20NA9q22.32NANANANArs15366900.1835060.17590.05650.15710.25260.24740.18620.260D0.997D0.88P..0.000P1.815L5.45T-1.007T0.000T1.51611.023.091.7541.6249.8221.5163721.51637200.1834880.246255NA0.159NA13.2877454
184455984444559844GAexonicTCEB3BNAnonsynonymous SNVexonicENSG00000206181NAnonsynonymous SNVNANA18q21.1NANANANArs617434150.007587860.02090.0060.01010.00080.00310.01190.020.01D0.99D0.929D0.003N1.000N2.745M1.46T-1.034T